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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	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	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
ZP4	57829	broad.mit.edu	37	chr1	238045749	238045749	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacatttggtctgggcaactCttctgtttcttgacagccaa	8	11	4	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr1:238045749C>T	uc001hym.3	-	11	1883	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	532					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGGGCAACTCTTCTGTTTCT	0.443													5	209					0	0	1	0	0	T	238045749	C	T	238045749	2	4	1	1	0	0	0	0	0	0	0	1	18215	912	32	2		2	ZP4	1	238045749	Silent	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		238045749	11204872	1	1											
MRPS5	64969	broad.mit.edu	37	chr2	95773945	95773945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaccagggtcagggggGccaagactgatgcctcccca	15	13	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:95773945G>A	uc002sub.3	-	4	830	c.612C>T	c.(610-612)ggC>ggT	p.G204G	MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Silent_p.G204G	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	204					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGTCAGGGGGGCCAAGACTGA	0.488													4	130					0	0	1	0	0	A	95773945	G	A	95773945	2	1	1	1	0	0	0	0	0	0	0	1	9846	1190	42	2		2	MRPS5	2	95773945	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		95773945	147425428	2	2											
SCN1A	6323	broad.mit.edu	37	chr2	166894497	166894497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctttgtagcttttaccaAagagctgcatgccgaccacg	8	11	1	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:166894497A>G	uc002udo.4	-	16	2962	c.2735T>C	c.(2734-2736)tTt>tCt	p.F912S	SCN1A_uc010fpk.3_Missense_Mutation_p.F884S|SCN1A_uc021vsb.1_Missense_Mutation_p.F901S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	912						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCTTTTACCAAAGAGCTGCAT	0.478													35	117					0	0	1	0	0	G	166894497	A	G	166894497	3	3	1	1	0	0	0	0	1	0	0	0	13914	14	1	3	3342	3	SCN1A	2	166894497	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	71120552	166894497	76304876	3	3											
SSFA2	6744	broad.mit.edu	37	chr2	182783539	182783539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttgtttagaacacaaAtgatggatttagaattggca	9	3	0	4			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:182783539A>G	uc002uoi.3	+	12	3245	c.2923A>G	c.(2923-2925)Atg>Gtg	p.M975V	SSFA2_uc002uoh.3_Missense_Mutation_p.M975V|SSFA2_uc002uoj.3_Missense_Mutation_p.M975V|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.M822V|SSFA2_uc002uol.3_Missense_Mutation_p.M822V|SSFA2_uc002uom.3_Missense_Mutation_p.M443V	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	975						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGAACACAAATGATGGATTT	0.373													3	99					0	0	1	0	0	G	182783539	A	G	182783539	3	3	1	1	0	0	0	0	1	0	0	0	15182	101	4	3	2973	3	SSFA2	2	182783539	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	15889042	182783539	60415834	4	4											
NEK10	152110	broad.mit.edu	37	chr3	27332763	27332763	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagtcaccttgtaaacaCagccaaaagctccacttcca	6	13	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:27332763C>G	uc003cdt.2	-	18	1869	c.1595G>C	c.(1594-1596)tGt>tCt	p.C532S	NEK10_uc003cds.1_5'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	532	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGTAAACACAGCCAAAAGC	0.383													8	45					0	0	1	0	0	G	27332763	C	G	27332763	3	3	1	1	0	0	0	0	1	0	0	0	10322	478	17	4	571	4	NEK10	3	27332763	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		27332763	170689667	5	5											
HTR3C	170572	broad.mit.edu	37	chr3	183777748	183777748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttcactccctgctgctccActgcaccagcccagggagat	9	17	1	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:183777748A>T	uc003fmk.3	+	7	1092	c.1058A>T	c.(1057-1059)cAc>cTc	p.H353L		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	353						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTGCTGCTCCACTGCACCAGC	0.642													23	50					0	0	1	0	0	T	183777748	A	T	183777748	3	4	1	1	0	0	0	0	1	0	0	0	7446	159	6	5	1088	5	HTR3C	3	183777748	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	156444985	183777748	14244682	6	6											
EIF4G1	1981	broad.mit.edu	37	chr3	184040719	184040719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagagggattgccacatAtcagtgacgtggtgctggac	14	9	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:184040719A>G	uc010hxx.3	+	13	2198	c.1927A>G	c.(1927-1929)Atc>Gtc	p.I643V	EIF4G1_uc003fno.2_Missense_Mutation_p.I577V|EIF4G1_uc010hxw.2_Missense_Mutation_p.I472V|EIF4G1_uc003fnt.3_Missense_Mutation_p.I347V|EIF4G1_uc010hxy.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnp.3_Missense_Mutation_p.I636V|EIF4G1_uc003fnq.3_Missense_Mutation_p.I549V|EIF4G1_uc003fnr.3_Missense_Mutation_p.I472V|EIF4G1_uc003fns.3_Missense_Mutation_p.I596V|EIF4G1_uc003fnv.4_Missense_Mutation_p.I636V|EIF4G1_uc003fnw.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnx.3_Missense_Mutation_p.I440V|SNORD66_uc003fnz.3_5'Flank	NM_001194946	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 6, mRNA.	636	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.K643N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTGCCACATATCAGTGACGT	0.507													6	285					0	0	1	0	0	G	184040719	A	G	184040719	3	3	1	1	0	0	0	0	1	0	0	0	5036	449	16	3	1948	3	EIF4G1	3	184040719	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	262971	184040719	13981711	7	7											
FRYL	285527	broad.mit.edu	37	chr4	48591854	48591854	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatgtctgaggatgctAtctaatgcttttcttacttg	7	8	3	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr4:48591854A>G	uc003gyh.1	-	17	2153	c.1548T>C	c.(1546-1548)gaT>gaC	p.D516D	FRYL_uc003gyk.3_Silent_p.D516D	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGAGGATGCTATCTAATGCTT	0.353													4	249					0	0	1	0	0	G	48591854	A	G	48591854	2	3	1	1	0	0	0	0	0	0	0	1	6064	446	16	3		3	FRYL	4	48591854	Silent	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		48591854	142562422	8	8											
DNAH5	1767	broad.mit.edu	37	chr5	13751210	13751210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgtgagaatgacccTccccagtaactgatcttcta	6	13	3	3			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr5:13751210T>C	uc003jfd.2	-	64	11230	c.11188A>G	c.(11188-11190)Agg>Ggg	p.R3730G	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3730	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAATGACCCTCCCCAGTAAC	0.443									Kartagener syndrome				32	70					0	0	1	0	0	C	13751210	T	C	13751210	3	2	1	1	0	0	0	0	1	0	0	0	4604	1550	54	3	2746	3	DNAH5	5	13751210	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		13751210	167164050	9	9											
ZFAND3	60685	broad.mit.edu	37	chr6	38029485	38029485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctcgataaccacgccaActcttagtcccagccagcag	6	16	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:38029485A>G	uc003onx.3	+	2	644	c.229A>G	c.(229-231)Act>Gct	p.T77A		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.	77							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AACCACGCCAACTCTTAGTCC	0.493													15	49					0	0	1	0	0	G	38029485	A	G	38029485	3	3	1	1	0	0	0	0	1	0	0	0	17626	43	2	3	239	3	ZFAND3	6	38029485	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		38029485	133085582	10	10											
PTPRK	5796	broad.mit.edu	37	chr6	128540102	128540102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcaaaattggacacaccgGaacctcgttctgactgagtt	10	10	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:128540102G>A	uc011ebu.2	-	5	1200	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PTPRK_uc010kfc.3_Missense_Mutation_p.S278F|PTPRK_uc003qbj.3_Missense_Mutation_p.S278F|PTPRK_uc003qbk.3_Missense_Mutation_p.S278F|PTPRK_uc003qbl.1_Missense_Mutation_p.S148F|PTPRK_uc011ebv.1_Missense_Mutation_p.S278F	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 1, mRNA.	278	Ig-like C2-type.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGACACACCGGAACCTCGTTC	0.398													41	158					0	0	1	0	0	A	128540102	G	A	128540102	3	1	1	1	0	0	0	0	1	0	0	0	12805	1174	41	2	3611	2	PTPRK	6	128540102	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	90510617	128540102	42574965	11	11											
C7orf10	79783	broad.mit.edu	37	chr7	40899976	40899976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgcccccgctgctcggGcagcacacaacgcacatcct	10	19	0	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:40899976G>A	uc022acd.1	+	14	1338	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	C7orf10_uc003thn.2_Silent_p.G412G|C7orf10_uc003tho.2_Silent_p.G364G|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	412							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CGCTGCTCGGGCAGCACACAA	0.572													11	285					0	0	1	0	0	A	40899976	G	A	40899976	2	1	1	1	0	0	0	0	0	0	0	1	2376	1190	42	2		2	C7orf10	7	40899976	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		40899976	118238687	12	12											
HUS1	3364	broad.mit.edu	37	chr7	48016402	48016402	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctttatggggatgtcatgGgtcacaatgcggctactgct	12	9	2	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:48016402G>T	uc003tod.2	-	3	496	c.390C>A	c.(388-390)acC>acA	p.T130T		NM_004507	NP_004498	O60921	HUS1_HUMAN	Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA.	130					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGATGTCATGGGTCACAATGC	0.408								Direct reversal of damage;Other conserved DNA damage response genes					7	247					0	0	1	0	0	T	48016402	G	T	48016402	2	4	1	1	0	0	0	0	0	0	0	1	7459	1219	43	4		4	HUS1	7	48016402	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	7116426	48016402	111122261	13	13											
CNGB3	54714	broad.mit.edu	37	chr8	87683262	87683262	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgacgcattcttttcaccaGgttgtgtagctgggcatcgg	12	9	2	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr8:87683262G>C	uc003ydx.3	-	3	451	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V	CNGB3_uc010maj.3_5'UTR	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	135					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTTTCACCAGGTTGTGTAGC	0.473													12	499					0	0	1	0	0	C	87683262	G	C	87683262	3	2	1	1	0	0	0	0	1	0	0	0	3601	991	35	4	2086	4	CNGB3	8	87683262	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		87683262	58680760	14	14											
FGD3	89846	broad.mit.edu	37	chr9	95797678	95797678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactgagtgtgccggaccCtgaggagaggctggactcgg	16	10	0	3			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr9:95797678C>T	uc004asw.2	+	17	2613	c.1985C>T	c.(1984-1986)cCt>cTt	p.P662L	FGD3_uc004asx.2_Missense_Mutation_p.P661L|FGD3_uc004asz.2_Missense_Mutation_p.P662L|FGD3_uc011luc.1_Missense_Mutation_p.P265L	NM_001083536	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 1, mRNA.	662	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GTGCCGGACCCTGAGGAGAGG	0.672													6	13					0	0	1	0	0	T	95797678	C	T	95797678	3	4	1	1	0	0	0	0	1	0	0	0	5834	681	24	2	2047	2	FGD3	9	95797678	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		95797678	45415753	15	15											
FRMPD2	143162	broad.mit.edu	37	chr10	49409405	49409405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttcccagtgacactgCttgtgatggtgaactttttt	9	9	1	3			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:49409405C>T	uc001jgi.3	-	14	2151	c.1820G>A	c.(1819-1821)aGc>aAc	p.S607N	FRMPD2_uc001jgh.3_Missense_Mutation_p.S575N|FRMPD2_uc001jgj.3_Missense_Mutation_p.S576N	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	607	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGTGACACTGCTTGTGATGGT	0.453													52	170					0	0	1	0	0	T	49409405	C	T	49409405	3	4	1	1	0	0	0	0	1	0	0	0	6058	797	28	2	2169	2	FRMPD2	10	49409405	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		49409405	86125342	16	16											
C10orf76	79591	broad.mit.edu	37	chr10	103735059	103735059	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactacctggatgcagcgtcTgtaacagggaaagcaaaaaa	10	8	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:103735059T>C	uc009xwy.1	-	20	1509	c.1407_splice	c.e20-1	p.I469_splice	C10orf76_uc009xwx.1_Splice_Site	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	469						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATGCAGCGTCTGTAACAGGGA	0.493													19	49					0	0	1	0	0	C	103735059	T	C	103735059	5	2	1	1	0	0	0	0	0	0	1	0	1616	1594	55	3	692	3	C10orf76	10	103735059	Splice_Site	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08	54325654	103735059	31799688	17	17											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122273473	122273473	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttgtgtggtgaaaattatCcggcgaacagacaagactga	11	6	0	4			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:122273473C>T	uc001lev.1	+	2	568	c.216C>T	c.(214-216)atC>atT	p.I72I	PPAPDC1A_uc010qtd.2_Silent_p.I72I|PPAPDC1A_uc009xzl.1_Silent_p.I72I|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	72					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TGAAAATTATCCGGCGAACAG	0.413													4	184					0	0	1	0	0	T	122273473	C	T	122273473	2	4	1	1	0	0	0	0	0	0	0	1	12293	845	30	2		2	PPAPDC1A	10	122273473	Silent	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	18538414	122273473	13261274	18	18											
OR5B2	390190	broad.mit.edu	37	chr11	58190019	58190019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtgaagtgagaggcaCaggtggacaatgctttttgg	15	6	0	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:58190019C>T	uc010rkg.2	-	0	768	c.716G>A	c.(715-717)tGt>tAt	p.C239Y		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGAGAGGCACAGGTGGACAA	0.438													27	57					0	0	1	0	0	T	58190019	C	T	58190019	3	4	1	1	0	0	0	0	1	0	0	0	11150	478	17	2	217	2	OR5B2	11	58190019	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		58190019	76816497	19	19											
C11orf9	745	broad.mit.edu	37	chr11	61551039	61551039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaattcgatgtccatcaCctcccagtactgtgctccag	9	13	1	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:61551039C>T	uc001nsc.1	+	22	3182	c.3086C>T	c.(3085-3087)aCc>aTc	p.T1029I	C11orf9_uc001nse.1_Missense_Mutation_p.T989I|C11orf9_uc010rll.1_Missense_Mutation_p.T415I|C11orf9_uc021qkh.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	1029					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						ATGTCCATCACCTCCCAGTAC	0.617													5	308					0	0	1	0	0	T	61551039	C	T	61551039	3	4	1	1	0	0	0	0	1	0	0	0	1671	507	18	2	3202	2	C11orf9	11	61551039	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	3361020	61551039	73455477	20	20											
OR2AT4	341152	broad.mit.edu	37	chr11	74800585	74800585	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatgggcttgtggaggctGggctctgccaccacggccac	14	13	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:74800585G>T	uc010rro.2	-	0	174	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTGGAGGCTGGGCTCTGCCA	0.502													5	87					0	0	1	0	0	T	74800585	G	T	74800585	2	4	1	1	0	0	0	0	0	0	0	1	10987	1335	47	4		4	OR2AT4	11	74800585	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	13249546	74800585	60205931	21	21											
SORL1	6653	broad.mit.edu	37	chr11	121424735	121424735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcagttgcctctcaccGggctacgggcagcagtggcc	14	15	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:121424735G>A	uc001pxx.3	+	16	2485	c.2356G>A	c.(2356-2358)Ggg>Agg	p.G786R		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	786					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCCTCTCACCGGGCTACGGGC	0.562													4	234					0	0	1	0	0	A	121424735	G	A	121424735	3	1	1	1	0	0	0	0	1	0	0	0	14934	1116	39	1	2422	1	SORL1	11	121424735	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	46624150	121424735	13581781	22	22											
THYN1	29087	broad.mit.edu	37	chr11	134122752	134122752	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgaaccagaagtcccagCcagcctcttccggggtctcg	10	16	2	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:134122752C>G	uc001qhf.3	-	1	127	c.25G>C	c.(25-27)Gct>Cct	p.A9P	THYN1_uc001qhg.3_Missense_Mutation_p.A9P|THYN1_uc001qhh.3_Missense_Mutation_p.A9P|THYN1_uc001qhi.3_Missense_Mutation_p.A9P|THYN1_uc001qhj.3_Missense_Mutation_p.A9P|THYN1_uc009zdb.3_Missense_Mutation_p.A9P|ACAD8_uc009zdc.3_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.2_5'Flank|ACAD8_uc001qhk.3_5'Flank|ACAD8_uc001qhl.3_5'Flank	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	9						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		GAAGTCCCAGCCAGCCTCTTC	0.512													3	148					0	0	1	0	0	G	134122752	C	G	134122752	3	3	1	1	0	0	0	0	1	0	0	0	15883	739	26	4	680	4	THYN1	11	134122752	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	12698017	134122752	883764	23	23											
A2ML1	144568	broad.mit.edu	37	chr12	9013729	9013729	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcttcatcttcactttttAggacccaatggtgagtcagg	9	9	5	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:9013729A>G	uc001quz.4	+	28	3438	c.3340_splice	c.e28-2	p.D1114_splice	A2ML1_uc001qva.1_Splice_Site_p.D694_splice|A2ML1_uc010sgm.2_Splice_Site_p.D614_splice	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	958						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTCACTTTTTAGGACCCAATG	0.433													3	193					0	0	1	0	0	G	9013729	A	G	9013729	5	3	1	1	0	0	0	0	0	0	1	0	5	434	15	3	3448	3	A2ML1	12	9013729	Splice_Site	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		9013729	124838166	24	24											
CCDC38	120935	broad.mit.edu	37	chr12	96310945	96310945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggagcaggacctggcccaAacttttcaaatgacctacca	8	13	1	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:96310945A>C	uc001tek.2	-	3	500	c.266T>G	c.(265-267)tTt>tGt	p.F89C		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	89										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTGGCCCAAACTTTTCAAA	0.373													6	94					0	0	1	0	0	C	96310945	A	C	96310945	3	2	1	1	0	0	0	0	1	0	0	0	2810	14	1	5	1477	5	CCDC38	12	96310945	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	87297216	96310945	37540950	25	25											
HSPH1	10808	broad.mit.edu	37	chr13	31728716	31728716	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttcatacttaaaagtaaTacaaagaacgcaaaaatgaa	4	6	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr13:31728716T>C	uc010aay.1	-	3	760	c.489A>G	c.(487-489)gtA>gtG	p.V163V	HSPH1_uc001utj.3_Intron|HSPH1_uc001utk.3_Intron|HSPH1_uc010aaw.3_Intron|HSPH1_uc001utl.3_Intron|HSPH1_uc010tds.2_Intron|HSPH1_uc010tdt.1_Intron|HSPH1_uc010aax.1_Intron			Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	0					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTAAAAGTAATACAAAGAACG	0.353													14	46					0	0	1	0	0	C	31728716	T	C	31728716	2	2	1	1	0	0	0	0	0	0	0	1	7431	1421	49	3		3	HSPH1	13	31728716	Silent	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		31728716	83441162	26	26											
TEP1	7011	broad.mit.edu	37	chr14	20869182	20869182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacgctttgttcccccgtaGgctcagctcccgctcccagg	10	18	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr14:20869182G>T	uc001vxe.3	-	8	1550	c.1510C>A	c.(1510-1512)Cta>Ata	p.L504I	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.L396I	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	504	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTCCCCCGTAGGCTCAGCTCC	0.547													51	107					0	0	1	0	0	T	20869182	G	T	20869182	3	4	1	1	0	0	0	0	1	0	0	0	15756	991	35	4	6561	4	TEP1	14	20869182	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		20869182	86480358	27	27											
MTHFD1	4522	broad.mit.edu	37	chr14	64882196	64882196	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgatcaatgctattgcacccGagaaggatgtggatgggtaa	13	6	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr14:64882196G>C	uc010aqf.3	+	4	748	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	MTHFD1_uc010aqe.2_Missense_Mutation_p.E157Q|MTHFD1_uc001xhb.3_Missense_Mutation_p.E121Q	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	121	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TATTGCACCCGAGAAGGATGT	0.383													3	280					0	0	1	0	0	C	64882196	G	C	64882196	3	2	1	1	0	0	0	0	1	0	0	0	9927	1059	37	4	379	4	MTHFD1	14	64882196	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	44013014	64882196	42467344	28	28											
INO80	54617	broad.mit.edu	37	chr15	41364115	41364115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatttgccattaaaaaTtgtgggctgtggaatatcct	8	6	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr15:41364115T>C	uc001zni.3	-	11	1750	c.1537A>G	c.(1537-1539)Att>Gtt	p.I513V	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	513	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATTAAAAATTGTGGGCTGT	0.448													3	218					0	0	1	0	0	C	41364115	T	C	41364115	3	2	1	1	0	0	0	0	1	0	0	0	7746	1493	52	3	3233	3	INO80	15	41364115	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		41364115	61167277	29	29											
AXIN1	8312	broad.mit.edu	37	chr16	364573	364573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgagggacagggtgtctGcatcgctggacaggctctgc	16	11	2	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:364573G>A	uc002cgp.2	-	2	1378	c.989C>T	c.(988-990)gCa>gTa	p.A330V	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.A330V	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	330	Interaction with TP53 (By similarity).				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGGGTGTCTGCATCGCTGGA	0.627													14	56					0	0	1	0	0	A	364573	G	A	364573	3	1	1	1	0	0	0	0	1	0	0	0	1236	1319	46	2	1635	2	AXIN1	16	364573	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		364573	89990180	30	30											
CDH8	1006	broad.mit.edu	37	chr16	61687826	61687826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtttaatatccttacgggGtaaaaatccattaattccat	6	7	0	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:61687826G>C	uc002eog.2	-	11	3041	c.2086C>G	c.(2086-2088)Ccc>Gcc	p.P696A		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	696					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCTTACGGGGTAAAAATCCA	0.408													39	188					0	0	1	0	0	C	61687826	G	C	61687826	3	2	1	1	0	0	0	0	1	0	0	0	3116	1261	44	4	317	4	CDH8	16	61687826	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	61323253	61687826	28666927	31	31											
C18orf62	284274	broad.mit.edu	37	chr18	73130763	73130763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaatatgctgttggcccTtttccagtcttcagaaaccc	7	12	2	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr18:73130763T>C	uc002lma.1	-	1	309	c.238A>G	c.(238-240)Agg>Ggg	p.R80G	C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	80						integral to membrane		p.R80G(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		ctgttggcccttttccagtct	0.368													3	199					0	0	1	0	0	C	73130763	T	C	73130763	3	2	1	1	0	0	0	0	1	0	0	0	1906	1608	56	3	75	3	C18orf62	18	73130763	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		73130763	4946485	32	32											
BSG	682	broad.mit.edu	37	chr19	579410	579410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaaaaccagtccttccCggggaggagccgcaggttcc	14	12	0	1			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:579410C>T	uc002lpc.3	+	0	561	c.467C>T	c.(466-468)cCg>cTg	p.P156L	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002loz.3_Intron|BSG_uc002lpa.3_Intron	NM_198589	NP_940991	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 2, mRNA.	0	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTCCTTCCCGGGGAGGAGC	0.677													4	38					0	0	1	0	0	T	579410	C	T	579410	3	4	1	1	0	0	0	0	1	0	0	0	1529	667	23	1		1	BSG	19	579410	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		579410	58549573	33	33											
MUC16	94025	broad.mit.edu	37	chr19	9064376	9064376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacggcaggtaaagacagCggggaggatggagggctggt	20	6	1	1	rs150330701	by1000genomes	TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:9064376C>T	uc002mkp.3	-	2	23274	c.23070G>A	c.(23068-23070)ccG>ccA	p.P7690P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7692	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAAGACAGCGGGGAGGATG	0.562													7	55					0	0	1	0	0	T	9064376	C	T	9064376	2	4	1	1	0	0	0	0	0	0	0	1	9973	755	27	1		1	MUC16	19	9064376	Silent	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	8484966	9064376	50064607	34	34											
VN1R1	57191	broad.mit.edu	37	chr19	57967438	57967438	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggaatccattgagaaggcaGatggtgctgagggaaactct	14	6	1	3			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967438G>C	uc002qos.2	-	0	670	c.417C>G	c.(415-417)atC>atG	p.I139M		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	139			I -> T (in allele VN1R1*2).		response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGAAGGCAGATGGTGCTGA	0.428													24	131					0	0	1	0	0	C	57967438	G	C	57967438	3	2	1	1	0	0	0	0	1	0	0	0	17175	932	33	4	648	4	VN1R1	19	57967438	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	48903062	57967438	1161545	35	35			1	1		3	3	275	G		5.934742e-08
VN1R1	57191	broad.mit.edu	37	chr19	57967675	57967675	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagaaaggaatttcccagGatcccaactccagtctgaat	9	10	1	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967675G>A	uc002qos.2	-	0	433	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	60					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.G59E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AATTTCCCAGGATCCCAACTC	0.413													14	88					0	0	1	0	0	A	57967675	G	A	57967675	2	1	1	1	0	0	0	0	0	0	0	1	17175	1164	41	2		2	VN1R1	19	57967675	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	237	57967675	1161308	36	36			1	1		3	3	275	G		5.934742e-08
VN1R1	57191	broad.mit.edu	37	chr19	57967712	57967712	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatgaggaagctaatccctGattttacttttccaaaagcc	7	9	0	2			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967712G>A	uc002qos.2	-	0	396	c.143C>T	c.(142-144)tCa>tTa	p.S48L		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	48					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCTAATCCCTGATTTTACTTT	0.358													17	91					0	0	1	0	0	A	57967712	G	A	57967712	3	1	1	1	0	0	0	0	1	0	0	0	17175	1294	45	2	922	2	VN1R1	19	57967712	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	37	57967712	1161271	37	37			1	1		3	3	275	G		5.934742e-08
UMODL1	89766	broad.mit.edu	37	chr21	43547305	43547305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagtgctgggcaaccccGtctagcaacgcccgggaccc	13	16	1	0			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr21:43547305G>A	uc002zag.1	+	17	3867	c.3867G>A	c.(3865-3867)ccG>ccA	p.P1289P	UMODL1_uc002zad.1_Silent_p.P1089P|UMODL1_uc002zae.1_Silent_p.P1217P|UMODL1_uc002zaf.1_Silent_p.P1161P|UMODL1_uc002zal.1_Silent_p.P111P|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1161						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGCAACCCCGTCTAGCAACG	0.562													5	126					0	0	1	0	0	A	43547305	G	A	43547305	2	1	1	1	0	0	0	0	0	0	0	1	16977	1132	40	1		1	UMODL1	21	43547305	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		43547305	4582590	38	38											
DDX3Y	8653	broad.mit.edu	37	chrY	15024673	15024673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacggagtgactatgatggtAttggcaatcgtgaaagacct	13	6	0	4			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chrY:15024673A>G	uc004fsu.1	+	5	625	c.316A>G	c.(316-318)Att>Gtt	p.I106V	DDX3Y_uc010nwv.1_Missense_Mutation_p.I106V|DDX3Y_uc011naq.1_Missense_Mutation_p.I106V|DDX3Y_uc004fsv.2_Missense_Mutation_p.I106V|DDX3Y_uc010nww.1_Intron|DDX3Y_uc011nar.1_Missense_Mutation_p.I103V	NM_001122665	NP_004651	O15523	DDX3Y_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA.	106						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTATGATGGTATTGGCAATCG	0.433													4	65					0	0	1	0	0	G	15024673	A	G	15024673	3	3	1	1	0	0	0	0	1	0	0	0	4359	449	16	3	334	3	DDX3Y	24	15024673	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		15024673	44348893	39	39											
RAP1GAP	5909	broad.mit.edu	37	chr1	21928276	21928276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctggggtcttctgaccaGccggagggctctccctgcgg	15	13	4	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:21928276G>A	uc001bev.3	-	17	1826	c.1808C>T	c.(1807-1809)gCt>gTt	p.A603V	RAP1GAP_uc001bew.3_Missense_Mutation_p.A582V|RAP1GAP_uc001bey.3_Missense_Mutation_p.A544V|RAP1GAP_uc001bex.3_Missense_Mutation_p.A518V	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	518					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTTCTGACCAGCCGGAGGGCT	0.667													12	65					0	0	1	0	0	A	21928276	G	A	21928276	3	1	2	1	0	0	0	0	1	0	0	0	13037	971	34	2	458	2	RAP1GAP	1	21928276	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		21928276	227322345	1	40											
ZMYM1	79830	broad.mit.edu	37	chr1	35579878	35579878	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacagtccatgatcgtacatTactatctgtgattgacagtc	8	9	1	3			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:35579878T>A	uc001bym.3	+	9	2593	c.2447T>A	c.(2446-2448)tTa>tAa	p.L816*	ZMYM1_uc001byn.3_Nonsense_Mutation_p.L816*|ZMYM1_uc010ohu.2_Nonsense_Mutation_p.L797*|ZMYM1_uc001byo.3_Nonsense_Mutation_p.L456*|ZMYM1_uc009vut.3_Nonsense_Mutation_p.L741*	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	816						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATCGTACATTACTATCTGTG	0.343													4	121					0	0	1	0	0	A	35579878	T	A	35579878	4	1	2	1	0	0	0	0	0	1	0	0	17696	1764	61	5	2481	5	ZMYM1	1	35579878	Nonsense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	13651602	35579878	213670743	2	41											
HEYL	26508	broad.mit.edu	37	chr1	40092678	40092678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagggccagtgggcgtgggcGaaggctccatctcggctgcg	18	11	1	0	rs139668981	byFrequency	TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:40092678G>A	uc001cdp.3	-	4	539	c.488C>T	c.(487-489)tCg>tTg	p.S163L	HEYL_uc010oiw.2_Missense_Mutation_p.S135L	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	163	Pro-rich.				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCGTGGGCGAAGGCTCCAT	0.652													40	51					0	0	1	0	0	A	40092678	G	A	40092678	3	1	2	1	0	0	0	0	1	0	0	0	7080	1059	37	1	502	1	HEYL	1	40092678	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	4512800	40092678	209157943	3	42											
ADAM15	8751	broad.mit.edu	37	chr1	155029547	155029547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccaggtccagccccagCcaagacctgcatcatggagg	11	15	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:155029547C>T	uc001fgr.1	+	10	1219	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Missense_Mutation_p.A58V|ADAM15_uc010pet.1_Missense_Mutation_p.A357V|ADAM15_uc010peu.1_Missense_Mutation_p.A390V|ADAM15_uc001fgx.1_Missense_Mutation_p.A373V|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.A373V|ADAM15_uc001fgs.1_Missense_Mutation_p.A373V|ADAM15_uc010pev.1_Missense_Mutation_p.A383V|ADAM15_uc001fgu.1_Missense_Mutation_p.A373V|ADAM15_uc001fgv.1_Missense_Mutation_p.A373V|ADAM15_uc001fgw.1_Missense_Mutation_p.A373V	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	373	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGCCCCAGCCAAGACCTGC	0.642													13	52					0	0	1	0	0	T	155029547	C	T	155029547	3	4	2	1	0	0	0	0	1	0	0	0	237	739	26	2	1160	2	ADAM15	1	155029547	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08	114936869	155029547	94221074	4	43											
TROVE2	6738	broad.mit.edu	37	chr1	193038698	193038698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcagttacaaaatatAaacagagaaatggctggtct	9	7	2	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:193038698A>G	uc001gss.3	+	1	890	c.514A>G	c.(514-516)Aaa>Gaa	p.K172E	TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Missense_Mutation_p.K172E|TROVE2_uc009wyp.3_Missense_Mutation_p.K172E|TROVE2_uc001gsw.3_Missense_Mutation_p.K172E|TROVE2_uc009wyq.3_Missense_Mutation_p.K172E|TROVE2_uc001gsx.2_Missense_Mutation_p.K172E	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	172	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TACAAAATATAAACAGAGAAA	0.458													43	110					0	0	1	0	0	G	193038698	A	G	193038698	3	3	2	1	0	0	0	0	1	0	0	0	16573	363	13	3	516	3	TROVE2	1	193038698	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	38009151	193038698	56211923	5	44											
CLK1	1195	broad.mit.edu	37	chr2	201719735	201719735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtcacttactggaaataCggtaaacccaagatagtatt	7	7	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr2:201719735C>A	uc010zhi.1	-	9	1593	c.1258G>T	c.(1258-1260)Gta>Tta	p.V420L	CLK1_uc002uwe.2_Missense_Mutation_p.V378L|CLK1_uc002uwf.2_Missense_Mutation_p.V152L|CLK1_uc002uwg.2_Missense_Mutation_p.V227L	NM_001162407	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 2, mRNA.	378	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGGAAATACGGTAAACCCA	0.388													48	80					0	0	1	0	0	A	201719735	C	A	201719735	3	1	2	1	0	0	0	0	1	0	0	0	3536	536	19	4	338	4	CLK1	2	201719735	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		201719735	41479638	6	45											
N4BP2	55728	broad.mit.edu	37	chr4	40113746	40113746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatatctcctataattatagAtaatacaaacctacaggcat	4	8	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:40113746A>G	uc003guy.4	+	5	1879	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G	N4BP2_uc010ifq.3_Missense_Mutation_p.D434G|N4BP2_uc010ifr.3_Missense_Mutation_p.D434G	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	514						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAATTATAGATAATACAAAC	0.274													124	133					0	0	1	0	0	G	40113746	A	G	40113746	3	3	2	1	0	0	0	0	1	0	0	0	10110	333	12	3	1555	3	N4BP2	4	40113746	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08		40113746	151040530	7	46											
MUC7	4589	broad.mit.edu	37	chr4	71339788	71339788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcactgagtgcttgctTctcggtaagtattcacccaa	9	11	2	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:71339788T>C	uc011cat.2	+	2	338	c.50T>C	c.(49-51)tTc>tCc	p.F17S	MUC7_uc011cau.2_Missense_Mutation_p.F17S|MUC7_uc003hfj.3_Missense_Mutation_p.F17S	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	17						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGTGCTTGCTTCTCGGTAAGT	0.388													49	97					0	0	1	0	0	C	71339788	T	C	71339788	3	2	2	1	0	0	0	0	1	0	0	0	9981	1783	62	3	52	3	MUC7	4	71339788	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	31226042	71339788	119814488	8	47											
SHROOM3	57619	broad.mit.edu	37	chr4	77660335	77660335	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaggtagggaggcccgaGcctcagcaaatggtcagggc	15	10	3	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77660335G>C	uc011cbx.2	+	4	1962	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P	SHROOM3_uc011cbz.1_Missense_Mutation_p.A161P|SHROOM3_uc003hkf.1_Missense_Mutation_p.A212P|SHROOM3_uc003hkg.3_Missense_Mutation_p.A115P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	337					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGGCCCGAGCCTCAGCAAA	0.552													48	95					0	0	1	0	0	C	77660335	G	C	77660335	3	2	2	1	0	0	0	0	1	0	0	0	14295	971	34	4	1027	4	SHROOM3	4	77660335	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	6320547	77660335	113493941	9	48											
SHROOM3	57619	broad.mit.edu	37	chr4	77661752	77661752	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctggttttggccataactAtaggccccacaggaccgtct	9	13	2	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77661752A>T	uc011cbx.2	+	4	3379	c.2426A>T	c.(2425-2427)tAt>tTt	p.Y809F	SHROOM3_uc011cbz.1_Missense_Mutation_p.Y633F|SHROOM3_uc003hkf.1_Missense_Mutation_p.Y684F|SHROOM3_uc003hkg.3_Missense_Mutation_p.Y587F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	809					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCATAACTATAGGCCCCAC	0.552													29	80					0	0	1	0	0	T	77661752	A	T	77661752	3	4	2	1	0	0	0	0	1	0	0	0	14295	449	16	5	2444	5	SHROOM3	4	77661752	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	1417	77661752	113492524	10	49											
SEC24B	10427	broad.mit.edu	37	chr4	110454843	110454843	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaataccacagaaaatggTcagtagattttatacacctt	5	8	2	2			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:110454843T>A	uc011cfp.2	+	23	3733	c.3678_splice	c.e23+2	p.M1226_splice	SEC24B_uc003hzk.3_Splice_Site_p.M1196_splice|SEC24B_uc003hzl.3_Splice_Site_p.M1161_splice|SEC24B_uc011cfq.2_Splice_Site_p.M1195_splice|SEC24B_uc011cfr.2_Splice_Site_p.M1160_splice	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	1196					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGAAAATGGTCAGTAGATTT	0.284													27	188					0	0	1	0	0	A	110454843	T	A	110454843	5	1	2	1	0	0	0	0	0	0	1	0	13995	1681	58	5	3676	5	SEC24B	4	110454843	Splice_Site	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	32793091	110454843	80699433	11	50											
MAP3K1	4214	broad.mit.edu	37	chr5	56181836	56181836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttaactacactgaacagttaCtccgtggcctttcgtatctc	6	12	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:56181836C>G	uc003jqw.4	+	16	4561	c.4060C>G	c.(4060-4062)Ctc>Gtc	p.L1354V		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1354	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGAACAGTTACTCCGTGGCCT	0.338													3	139					0	0	1	0	0	G	56181836	C	G	56181836	3	3	2	1	0	0	0	0	1	0	0	0	9243	565	20	4	4126	4	MAP3K1	5	56181836	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		56181836	124733424	12	51											
BDP1	55814	broad.mit.edu	37	chr5	70805633	70805633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaggtctgaaagcaaTgggaagagagatttgtctaa	14	4	2	4			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:70805633T>C	uc003kbp.1	+	16	2977	c.2714T>C	c.(2713-2715)aTg>aCg	p.M905T	BDP1_uc003kbn.1_Missense_Mutation_p.M905T|BDP1_uc003kbo.3_Missense_Mutation_p.M905T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	905	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTGAAAGCAATGGGAAGAGAG	0.418													32	86					0	0	1	0	0	C	70805633	T	C	70805633	3	2	2	1	0	0	0	0	1	0	0	0	1395	1464	51	3	2780	3	BDP1	5	70805633	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	14623797	70805633	110109627	13	52											
PCDHB1	29930	broad.mit.edu	37	chr5	140433491	140433491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattagagggccatgaccaGgtatctgatgactatatgta	11	6	1	5			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:140433491G>T	uc003lik.1	+	0	2513	c.2436G>T	c.(2434-2436)caG>caT	p.Q812H		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	812					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATGACCAGGTATCTGATG	0.418													31	139					0	0	1	0	0	T	140433491	G	T	140433491	3	4	2	1	0	0	0	0	1	0	0	0	11534	991	35	4	2438	4	PCDHB1	5	140433491	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	69627858	140433491	40481769	14	53											
GEMIN5	25929	broad.mit.edu	37	chr5	154280951	154280951	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcatacactttgtggaTggaaagtaggtgagaagcag	13	6	1	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:154280951T>A	uc003lvx.3	-	20	3045	c.2962A>T	c.(2962-2964)Atc>Ttc	p.I988F	GEMIN5_uc011ddk.1_Missense_Mutation_p.I987F	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	988					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTTTGTGGATGGAAAGTAGG	0.453													85	103					0	0	1	0	0	A	154280951	T	A	154280951	3	1	2	1	0	0	0	0	1	0	0	0	6331	1464	51	5	1596	5	GEMIN5	5	154280951	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	13847460	154280951	26634309	15	54											
TBC1D9B	23061	broad.mit.edu	37	chr5	179302050	179302050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacggcgctctcgaaggGcatgacgctgaggaagaggg	17	10	1	3			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:179302050G>A	uc003mlh.3	-	11	2073	c.2038C>T	c.(2038-2040)Ccc>Tcc	p.P680S	TBC1D9B_uc003mli.3_Missense_Mutation_p.P680S|TBC1D9B_uc003mlj.3_Missense_Mutation_p.P680S|TBC1D9B_uc011dgv.2_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	680	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGAAGGGCATGACGCTG	0.602													4	130					0	0	1	0	0	A	179302050	G	A	179302050	3	1	2	1	0	0	0	0	1	0	0	0	15625	1203	42	2	1758	2	TBC1D9B	5	179302050	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	25021099	179302050	1613210	16	55											
PRKDC	5591	broad.mit.edu	37	chr8	48749054	48749054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcggagtgagaacagtaCttcggaaacgccaatcagaa	10	9	1	2			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:48749054C>T	uc003xqi.3	-	58	7850	c.7793G>A	c.(7792-7794)aGt>aAt	p.S2598N	PRKDC_uc003xqj.3_Missense_Mutation_p.S2598N	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2599	KIP-binding.		R -> Q (in dbSNP:rs55923149).		cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGAACAGTACTTCGGAAACG	0.463								Non-homologous end-joining					3	26					0	0	1	0	0	T	48749054	C	T	48749054	3	4	2	1	0	0	0	0	1	0	0	0	12521	565	20	2	4706	2	PRKDC	8	48749054	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		48749054	97614968	17	56											
ENPP2	5168	broad.mit.edu	37	chr8	120575209	120575209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagacagctggtgatgatgCtgtagtagtgagttggaaca	14	6	0	4			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:120575209C>T	uc003yos.2	-	24	2551	c.2465G>A	c.(2464-2466)aGc>aAc	p.S822N	ENPP2_uc011lic.2_Missense_Mutation_p.S308N|ENPP2_uc003yor.2_Missense_Mutation_p.S405N|ENPP2_uc010mdd.2_Missense_Mutation_p.S795N|ENPP2_uc003yot.2_Missense_Mutation_p.S770N	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	770					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGTGATGATGCTGTAGTAGTG	0.507													8	68					0	0	1	0	0	T	120575209	C	T	120575209	3	4	2	1	0	0	0	0	1	0	0	0	5130	797	28	2	290	2	ENPP2	8	120575209	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08	71826155	120575209	25788813	18	57											
TG	7038	broad.mit.edu	37	chr8	133894135	133894135	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatttgtgaccttcagTtccttccagaggaggttccc	10	11	1	2			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:133894135T>C	uc003ytw.3	+	5	707	c.666T>C	c.(664-666)agT>agC	p.S222S		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	222	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGACCTTCAGTTCCTTCCAGA	0.483													44	87					0	0	1	0	0	C	133894135	T	C	133894135	2	2	2	1	0	0	0	0	0	0	0	1	15810	1722	60	3		3	TG	8	133894135	Silent	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	13318926	133894135	12469887	19	58											
SLC27A4	10999	broad.mit.edu	37	chr9	131112771	131112771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttcccaggtattaccGcatggctgccctggtgtact	11	13	0	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr9:131112771G>A	uc004but.3	+	5	1079	c.794G>A	c.(793-795)cGc>cAc	p.R265H	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	265					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGGTATTACCGCATGGCTGCC	0.627													4	59					0	0	1	0	0	A	131112771	G	A	131112771	3	1	2	1	0	0	0	0	1	0	0	0	14528	1087	38	1	812	1	SLC27A4	9	131112771	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		131112771	10100660	20	59											
PTEN	5728	broad.mit.edu	37	chr10	89692932	89692932	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgatatgtgcatattTattacatcggggcaaatttt	8	4	0	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89692932T>A	uc001kfb.3	+	4	1448	c.416T>A	c.(415-417)tTa>tAa	p.L139*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	139	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L139*(12)|p.?(5)|p.R55fs*1(5)|p.L139fs*40(4)|p.L139fs*7(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y138C(2)|p.Y138fs*9(1)|p.L139V(1)|p.I135fs*6(1)|p.L139F(1)|p.Y138*(1)|p.Y138D(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGCATATTTATTACATCGG	0.383		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			20	66					0	0	1	0	0	A	89692932	T	A	89692932	4	1	2	1	0	0	0	0	0	1	0	0	12738	1764	61	5	434	5	PTEN	10	89692932	Nonsense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08		89692932	45841815	21	60											
PTEN	5728	broad.mit.edu	37	chr10	89711928	89711928	+	Frame_Shift_Del	DEL	A	A	-													tattattatagctacctgttAaagaatcatctggattatag							TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89711928delA	uc001kfb.3	+	5	1578	c.546delA	c.(544-546)ttafs	p.L182fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	182	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.L182fs*16(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L182F(2)|p.Y27_N212>Y(2)|p.L181fs*2(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.V175fs*3(1)|p.L182*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			87	77	---	---	---	---						-	89711928	A	-	89711928	7	5	2	1	0	1	0	1	0	0	0	0	12738	359	13	0	568	0	PTEN	10	89711928	Frame_Shift_Del	DEL	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	18996	89711928	45822819	22	61											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5653565	5653565	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccagggaagcagtgcaatgGcttcaaaaatcttgcttaac	10	9	2	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:5653565G>C	uc001mbf.3	+	7	1329	c.1066G>C	c.(1066-1068)Gct>Cct	p.A356P	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbh.3_Missense_Mutation_p.A2P|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.A2P|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.A2P	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	356						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CAGTGCAATGGCTTCAAAAAT	0.517											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	23	124					0	0	1	0	0	C	5653565	G	C	5653565	3	2	2	1	0	0	0	0	1	0	0	0	16531	1203	42	4	1096	4	TRIM6-TRIM34	11	5653565	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		5653565	129352951	23	62											
FANCF	2188	broad.mit.edu	37	chr11	22646539	22646539	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttagcagacccagatagAcaggagacagcgctgggtgg	15	9	0	4			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:22646539A>C	uc001mql.1	-	0	849	c.818T>G	c.(817-819)gTc>gGc	p.V273G		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA.	273					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						ACCCAGATAGACAGGAGACAG	0.552			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	133					0	0	1	0	0	C	22646539	A	C	22646539	3	2	2	1	0	0	0	0	1	0	0	0	5667	275	10	5	310	5	FANCF	11	22646539	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	16992974	22646539	112359977	24	63											
AGBL1	123624	broad.mit.edu	37	chr15	86697783	86697783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgggctctgcgtgtgtttGcctccagtggtaagtgactc	13	10	2	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:86697783G>T	uc002blz.1	+	2	327	c.247G>T	c.(247-249)Gcc>Tcc	p.A83S		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	83					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCGTGTGTTTGCCTCCAGTGG	0.522													6	42					0	0	1	0	0	T	86697783	G	T	86697783	3	4	2	1	0	0	0	0	1	0	0	0	375	1319	46	4	253	4	AGBL1	15	86697783	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		86697783	15833609	25	64											
FAM169B	283777	broad.mit.edu	37	chr15	98982901	98982901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctggtggctgccctgCcagcccggcatcctcctctt	10	18	1	0			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:98982901C>T	uc002buk.1	-	6	788	c.538G>A	c.(538-540)Gca>Aca	p.A180T		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	180										large_intestine(3)|lung(3)|urinary_tract(1)	7						GGCTGCCCTGCCAGCCCGGCA	0.587													12	50					0	0	1	0	0	T	98982901	C	T	98982901	3	4	2	1	0	0	0	0	1	0	0	0	5488	739	26	2	44	2	FAM169B	15	98982901	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08	12285118	98982901	3548491	26	65											
SNTB2	6645	broad.mit.edu	37	chr16	69279566	69279566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattagtatcagatctgccGtgggaaggtgcagcccccca	11	12	3	1	rs143099113		TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr16:69279566G>A	uc002ewu.3	+	1	662	c.642G>A	c.(640-642)ccG>ccA	p.P214P	SNTB2_uc021tkg.1_Non-coding_Transcript	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.	214	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CAGATCTGCCGTGGGAAGGTG	0.448													107	263					0	0	1	0	0	A	69279566	G	A	69279566	2	1	2	1	0	0	0	0	0	0	0	1	14873	1132	40	1		1	SNTB2	16	69279566	Silent	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		69279566	21075187	27	66											
TCEB3B	51224	broad.mit.edu	37	chr18	44560437	44560437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcagtggtggcagattttCcagtctttttcttttgcttc	10	8	2	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr18:44560437C>T	uc002lcr.1	-	0	1552	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	400					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGATTTTCCAGTCTTTTT	0.478													50	164					0	0	1	0	0	T	44560437	C	T	44560437	3	4	2	1	0	0	0	0	1	0	0	0	15679	855	30	2	1066	2	TCEB3B	18	44560437	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		44560437	33516811	28	67											
ZNF565	147929	broad.mit.edu	37	chr19	36674128	36674128	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacattcataaggtttgacaCcagtatgaagtctctgatgt	8	7	2	3			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:36674128C>G	uc002odn.3	-	4	848	c.740G>C	c.(739-741)gGt>gCt	p.G247A	ZNF565_uc010ees.3_Missense_Mutation_p.G182A|ZNF565_uc002odo.3_Missense_Mutation_p.G247A	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGTTTGACACCAGTATGAAG	0.438													10	111					0	0	1	0	0	G	36674128	C	G	36674128	3	3	2	1	0	0	0	0	1	0	0	0	17993	507	18	4	763	4	ZNF565	19	36674128	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		36674128	22454855	29	68											
FCGBP	8857	broad.mit.edu	37	chr19	40366101	40366101	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccacgtaggtagccacTgcaggacagaggcctccagg	14	13	0	1			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:40366101T>C	uc002omp.4	-	29	14141	c.14133A>G	c.(14131-14133)gcA>gcG	p.A4711A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4711						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTAGCCACTGCAGGACAGA	0.672													22	33					0	0	1	0	0	C	40366101	T	C	40366101	2	2	2	1	0	0	0	0	0	0	0	1	5778	1567	55	3		3	FCGBP	19	40366101	Silent	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	3691973	40366101	18762882	30	69											
PPP2R1A	5518	broad.mit.edu	37	chr19	52719096	52719096	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccttccagaacctgaTgaaagactgtgaggccgagg	12	12	0	5			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:52719096T>A	uc002pyp.3	+	6	1167	c.872T>A	c.(871-873)aTg>aAg	p.M291K	PPP2R1A_uc010ydk.2_Missense_Mutation_p.M236K|PPP2R1A_uc010epm.1_Missense_Mutation_p.M331K|PPP2R1A_uc002pyq.3_Missense_Mutation_p.M112K	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	291	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		cagaacCTGATGAAAGACTGT	0.612			Mis		clear cell ovarian carcinoma								4	137					0	0	1	0	0	A	52719096	T	A	52719096	3	1	2	1	0	0	0	0	1	0	0	0	12382	1464	51	5	898	5	PPP2R1A	19	52719096	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	12352995	52719096	6409887	31	70											
NCAPH2	29781	broad.mit.edu	37	chr22	50961303	50961303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggagacagagctgagccaGcgcatcagggactgggagga	17	9	1	3			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr22:50961303G>T	uc003blx.4	+	17	1604	c.1482G>T	c.(1480-1482)caG>caT	p.Q494H	NCAPH2_uc003blv.3_Missense_Mutation_p.Q493H|NCAPH2_uc003blr.4_Missense_Mutation_p.Q493H	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	493					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		AGCTGAGCCAGCGCATCAGGG	0.647													5	59					0	0	1	0	0	T	50961303	G	T	50961303	3	4	2	1	0	0	0	0	1	0	0	0	10210	962	34	4	1591	4	NCAPH2	22	50961303	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		50961303	343263	32	71											
UBR4	23352	broad.mit.edu	37	chr1	19420477	19420477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatggtttgaatcgctccaCcaagatctgcattttctcca	7	11	2	2			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:19420477C>A	uc001bbi.3	-	94	13907	c.13903G>T	c.(13903-13905)Gtg>Ttg	p.V4635L	UBR4_uc010ocv.2_Missense_Mutation_p.V158L|UBR4_uc009vph.3_Missense_Mutation_p.V269L|UBR4_uc010ocw.2_Missense_Mutation_p.V299L|UBR4_uc001bbg.3_Missense_Mutation_p.V346L|UBR4_uc001bbh.3_Missense_Mutation_p.V344L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4635					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AATCGCTCCACCAAGATCTGC	0.463													17	26					0	0	1	0	0	A	19420477	C	A	19420477	3	1	3	1	0	0	0	0	1	0	0	0	16901	507	18	4	1696	4	UBR4	1	19420477	Missense_Mutation	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		19420477	229830144	1	72											
NLRP3	114548	broad.mit.edu	37	chr1	247586597	247586597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagacagcattgaagaggagTggatgggtttactggagtac	15	4	0	3			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:247586597T>C	uc001icr.3	+	3	487	c.349T>C	c.(349-351)Tgg>Cgg	p.W117R	NLRP3_uc001ics.3_Missense_Mutation_p.W117R|NLRP3_uc001icu.3_Missense_Mutation_p.W117R|NLRP3_uc001icw.3_Missense_Mutation_p.W117R|NLRP3_uc001icv.3_Missense_Mutation_p.W117R|NLRP3_uc010pyw.2_Missense_Mutation_p.W115R|NLRP3_uc001ict.1_Missense_Mutation_p.W115R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	117					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.W117L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGAAGAGGAGTGGATGGGTTT	0.423													94	108					0	0	1	0	0	C	247586597	T	C	247586597	3	2	3	1	0	0	0	0	1	0	0	0	10478	1696	59	3	355	3	NLRP3	1	247586597	Missense_Mutation	SNP	T	TCGA-BJ-A0Z2-01A-11D-A10S-08	228166120	247586597	1664024	2	73											
SNRNP27	11017	broad.mit.edu	37	chr2	70121125	70121125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggactccaaatgggtcgCagtcgcagccgctctccacg	13	15	1	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr2:70121125C>T	uc002sfw.3	+	0	51	c.9C>T	c.(7-9)cgC>cgT	p.R3R	SNRNP27_uc002sfv.3_Non-coding_Transcript	NM_006857	NP_006848	Q8WVK2	SNR27_HUMAN	Homo sapiens small nuclear ribonucleoprotein 27kDa (U4/U6.U5) (SNRNP27), transcript variant 1, mRNA.	3	Arg-rich.				RNA splicing|mRNA processing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGGGTCGCAGTCGCAGCC	0.542													35	35					0	0	1	0	0	T	70121125	C	T	70121125	2	4	3	1	0	0	0	0	0	0	0	1	14854	697	25	2		2	SNRNP27	2	70121125	Silent	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		70121125	173078248	3	74											
CACNA2D1	781	broad.mit.edu	37	chr7	81594935	81594936	+	Missense_Mutation	DNP	GC	GC	TT													tagtataatcatcatgatttGccatcagaagaaacccacca							TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:81594935_81594936GC>TT	uc003uhr.1	-	31	2804_2805	c.2548_2549GC>AA	c.(2548-2550)gca>AAa	p.A850K	CACNA2D1_uc011kgy.1_Missense_Mutation_p.A62K	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	862						voltage-gated calcium channel complex	metal ion binding	p.M849I(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATCATGATTTGCCATCAGAAGA	0.366													46	80					0	0	1	0	0	TT	81594936	GC	TT	81594935	3	4	3	1	0	0	0	0	1	0	0	0	2548	1319	46	4	758	4	CACNA2D1	7	81594935	Missense_Mutation	DNP	GC	TCGA-BJ-A0Z2-01A-11D-A10S-08		81594935	77543728	4	75											
IRF5	3663	broad.mit.edu	37	chr7	128588864	128588864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcctatgcacccagctggcAtgcaataacaaggctgcaga	11	12	0	1			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:128588864A>T	uc003vog.3	+	8	1658	c.1537A>T	c.(1537-1539)Atg>Ttg	p.M513L	IRF5_uc003voh.3_Missense_Mutation_p.M497L|IRF5_uc010llt.3_Missense_Mutation_p.M411L|IRF5_uc003voi.3_Missense_Mutation_p.M497L|IRF5_uc003voj.4_Missense_Mutation_p.M497L	NM_001098629	NP_001092099	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 5, mRNA.	497					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCCAGCTGGCATGCAATAACA	0.657													44	46					0	0	1	0	0	T	128588864	A	T	128588864	3	4	3	1	0	0	0	0	1	0	0	0	7833	217	8	5	1567	5	IRF5	7	128588864	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	46993929	128588864	30549799	5	76											
WEE2	494551	broad.mit.edu	37	chr7	141420816	141420816	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgttactattcctcatgggcAgaagatgaccacatgatcat	8	10	2	4			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:141420816A>T	uc003vwn.2	+	4	1246	c.840A>T	c.(838-840)gcA>gcT	p.A280A	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	280	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCTCATGGGCAGAAGATGACC	0.413													93	86					0	0	1	0	0	T	141420816	A	T	141420816	2	4	3	1	0	0	0	0	0	0	0	1	17342	175	7	5		5	WEE2	7	141420816	Silent	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	12831952	141420816	17717847	6	77											
PTK2B	2185	broad.mit.edu	37	chr8	27294958	27294958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatcgtgaagctgatcgGcatcattgaagaggagccca	12	10	1	4			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr8:27294958G>A	uc003xfn.2	+	21	2280	c.1472G>A	c.(1471-1473)gGc>gAc	p.G491D	PTK2B_uc022ate.1_Missense_Mutation_p.G491D|PTK2B_uc003xfp.2_Missense_Mutation_p.G491D|PTK2B_uc003xfq.2_Missense_Mutation_p.G491D|PTK2B_uc003xfr.1_Missense_Mutation_p.G237D	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	491	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AAGCTGATCGGCATCATTGAA	0.567													49	66					0	0	1	0	0	A	27294958	G	A	27294958	3	1	3	1	0	0	0	0	1	0	0	0	12763	1203	42	2	1534	2	PTK2B	8	27294958	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		27294958	119069064	7	78											
HRCT1	646962	broad.mit.edu	37	chr9	35906344	35906344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacaggtgctgctgtggcGgtcctgctgctgctgctgct	14	12	1	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:35906344G>A	uc003zyr.1	+	0	156	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	20						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						CTGCTGTGGCGGTCctgctgc	0.657													3	16					0	0	1	0	0	A	35906344	G	A	35906344	2	1	3	1	0	0	0	0	0	0	0	1	7353	1103	39	1		1	HRCT1	9	35906344	Silent	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		35906344	105307087	8	79											
NANS	54187	broad.mit.edu	37	chr9	100845135	100845135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgtccacagctgggcaAgtctgtggtggccaaagtga	13	8	1	1			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:100845135A>C	uc004ayc.3	+	5	1010	c.878A>C	c.(877-879)aAg>aCg	p.K293T	TRIM14_uc004ayd.2_Intron	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	293					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAGCTGGGCAAGTCTGTGGTG	0.488													32	37					0	0	1	0	0	C	100845135	A	C	100845135	3	2	3	1	0	0	0	0	1	0	0	0	10155	72	3	5	900	5	NANS	9	100845135	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	64938791	100845135	40368296	9	80											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			61	100					0	0	1	0	0	C	533874	T	C	533874	3	2	3	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BJ-A0Z2-01A-11D-A10S-08		533874	134472642	10	81											
MUC5B	727897	broad.mit.edu	37	chr11	1275535	1275535	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccactacaagtccatggAtatcgtcctcactgtcacca	5	15	2	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:1275535A>T	uc001lta.3	+	33	15490	c.15431A>T	c.(15430-15432)gAt>gTt	p.D5144V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5144	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGTCCATGGATATCGTCCTC	0.642													23	32					0	0	1	0	0	T	1275535	A	T	1275535	3	4	3	1	0	0	0	0	1	0	0	0	9979	333	12	5	15574	5	MUC5B	11	1275535	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	741661	1275535	133730981	11	82											
PIK3C2A	5286	broad.mit.edu	37	chr11	17144297	17144297	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttttggtaactgttccAggaacagaatttgtatgtga	9	6	0	2			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:17144297A>G	uc001mmq.4	-	12	2528	c.2463T>C	c.(2461-2463)ccT>ccC	p.P821P	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.P441P|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	821					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAACTGTTCCAGGAACAGAAT	0.313													7	75					0	0	1	0	0	G	17144297	A	G	17144297	2	3	3	1	0	0	0	0	0	0	0	1	11909	175	7	3		3	PIK3C2A	11	17144297	Silent	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	15868762	17144297	117862219	12	83											
PDE3A	5139	broad.mit.edu	37	chr12	20799741	20799741	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtattctcaaaaacgtatAatgtgacagatgataaatac	6	5	1	3			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:20799741A>T	uc001reh.2	+	11	2462	c.2422A>T	c.(2422-2424)Aat>Tat	p.N808Y	PDE3A_uc021qwa.1_Missense_Mutation_p.N486Y	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	808	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AAAAACGTATAATGTGACAGA	0.398													98	109					0	0	1	0	0	T	20799741	A	T	20799741	3	4	3	1	0	0	0	0	1	0	0	0	11637	362	13	5	2468	5	PDE3A	12	20799741	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08		20799741	113052154	13	84											
SUOX	6821	broad.mit.edu	37	chr12	56397583	56397583	+	Frame_Shift_Del	DEL	G	G	-													gggtcccctagagcccttctGggccctctatgctgttcaca							TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:56397583delG	uc001six.3	+	5	736	c.410delG	c.(409-411)tggfs	p.W137fs	SUOX_uc001siy.3_Frame_Shift_Del_p.W137fs|SUOX_uc001siz.3_Frame_Shift_Del_p.W137fs|SUOX_uc001sja.3_Frame_Shift_Del_p.W137fs	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	137	Cytochrome b5 heme-binding.					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAGCCCTTCTGGGCCCTCTAT	0.557													97	126	---	---	---	---						-	56397583	G	-	56397583	7	5	3	1	0	1	0	1	0	0	0	0	15392	1357	47	0	420	0	SUOX	12	56397583	Frame_Shift_Del	DEL	G	TCGA-BJ-A0Z2-01A-11D-A10S-08	35597842	56397583	77454312	14	85											
PRKD1	5587	broad.mit.edu	37	chr14	30066788	30066788	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcttcatcttcattaaatggGaatgtgccgcttaggcttac	8	9	4	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr14:30066788G>C	uc001wqh.3	-	15	2524	c.2343C>G	c.(2341-2343)ttC>ttG	p.F781L	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	781	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATTAAATGGGAATGTGCCGC	0.438													75	79					0	0	1	0	0	C	30066788	G	C	30066788	3	2	3	1	0	0	0	0	1	0	0	0	12518	1165	41	4	407	4	PRKD1	14	30066788	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		30066788	77282752	15	86											
ZNF652	22834	broad.mit.edu	37	chr17	47375973	47375973	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggggtgggggatgggCcgagggggaagagtgcttac	23	4	0	2			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr17:47375973C>A	uc002iov.4	-	5	2087	c.1623G>T	c.(1621-1623)cgG>cgT	p.R541R	ZNF652_uc002iow.3_Silent_p.R541R|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	541	Mediates interaction with CBFA2T3.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			gggggatgggccgagggGGAA	0.597													22	30					0	0	1	0	0	A	47375973	C	A	47375973	2	1	3	1	0	0	0	0	0	0	0	1	18062	726	26	4		4	ZNF652	17	47375973	Silent	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		47375973	33819237	16	87											
POTEC	388468	broad.mit.edu	37	chr18	14542921	14542921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccacgttgctcgtgccGctccccctgcagcaggggaa	13	16	0	0			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr18:14542921G>A	uc010dln.3	-	0	679	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	75								p.S75S(2)|p.S75R(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567													113	234					0	0	1	0	0	A	14542921	G	A	14542921	2	1	3	1	0	0	0	0	0	0	0	1	12262	1078	38	1		1	POTEC	18	14542921	Silent	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		14542921	63534327	17	88											
MUC16	94025	broad.mit.edu	37	chr19	9049457	9049457	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggtgagacagtcataattGgaatagctgaactggtttct	11	6	2	2			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr19:9049457G>C	uc002mkp.3	-	4	32378	c.32174C>G	c.(32173-32175)cCa>cGa	p.P10725R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10727	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCATAATTGGAATAGCTGA	0.443													159	215					0	0	1	0	0	C	9049457	G	C	9049457	3	2	3	1	0	0	0	0	1	0	0	0	9973	1348	47	4	11669	4	MUC16	19	9049457	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		9049457	50079526	18	89											
KIAA2022	340533	broad.mit.edu	37	chrX	73963336	73963336	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgcttcagggccccActcttagactctcgcttggg	10	15	4	1			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chrX:73963336A>C	uc004eby.3	-	2	1673	c.1056T>G	c.(1054-1056)agT>agG	p.S352R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	352					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAGGGCCCCACTCTTAGACT	0.468													4	71					0	0	1	0	0	C	73963336	A	C	73963336	3	2	3	1	0	0	0	0	1	0	0	0	8269	156	6	5	3502	5	KIAA2022	23	73963336	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08		73963336	81307224	19	90											
USP40	55230	broad.mit.edu	37	chr2	234389870	234389870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccttctccccagggccCgttgtttctgcttttctttt	6	13	3	0			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr2:234389870C>T	uc010zmr.2	-	29	3611	c.3611G>A	c.(3610-3612)cGg>cAg	p.R1204Q	USP40_uc002vul.3_Missense_Mutation_p.R188Q	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	1192					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCCCAGGGCCCGTTGTTTCTG	0.453													3	19					0	0	1	0	0	T	234389870	C	T	234389870	3	4	4	1	0	0	0	0	1	0	0	0	17069	652	23	1	140	1	USP40	2	234389870	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		234389870	8809503	1	91											
RAD18	56852	broad.mit.edu	37	chr3	8990195	8990195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaacaaaaactcaccaCacagcaagttggacactgag	8	10	1	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:8990195C>T	uc003brd.3	-	2	283	c.193G>A	c.(193-195)Gtg>Atg	p.V65M		NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.	65					DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		AAACTCACCACACAGCAAGTT	0.338								Rad6 pathway					4	155					0	0	1	0	0	T	8990195	C	T	8990195	3	4	4	1	0	0	0	0	1	0	0	0	12980	478	17	2	1338	2	RAD18	3	8990195	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		8990195	189032235	2	92											
CTNNB1	1499	broad.mit.edu	37	chr3	41280717	41280717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagatgggtggccaccacCctggtgctgactatccagtt	12	11	0	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:41280717C>A	uc010hia.1	+	15	2386	c.2230C>A	c.(2230-2232)Cct>Act	p.P744T	CTNNB1_uc003ckq.2_Missense_Mutation_p.P744T|CTNNB1_uc003ckp.2_Missense_Mutation_p.P744T|CTNNB1_uc003ckr.2_Missense_Mutation_p.P744T|CTNNB1_uc011azf.1_Missense_Mutation_p.P737T|CTNNB1_uc011azg.1_Missense_Mutation_p.P672T	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	744					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGCCACCACCCTGGTGCTGA	0.557		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				6	90					0	0	1	0	0	A	41280717	C	A	41280717	3	1	4	1	0	0	0	0	1	0	0	0	4016	623	22	4	2284	4	CTNNB1	3	41280717	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	32290522	41280717	156741713	3	93											
KBTBD5	131377	broad.mit.edu	37	chr3	42727577	42727577	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtggctgcccgcgacttcaTctgcgctcacttcacgctgg	11	16	4	0			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:42727577T>A	uc003clv.1	+	0	567	c.467T>A	c.(466-468)aTc>aAc	p.I156N		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	156	BACK.									breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGCGACTTCATCTGCGCTCAC	0.657													9	60					0	0	1	0	0	A	42727577	T	A	42727577	3	1	4	1	0	0	0	0	1	0	0	0	7996	1435	50	5	469	5	KBTBD5	3	42727577	Missense_Mutation	SNP	T	TCGA-BJ-A0Z3-01A-11D-A13W-08	1446860	42727577	155294853	4	94											
RASSF1	11186	broad.mit.edu	37	chr3	50368106	50368106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgctcctcctcctccCgctgcaggatacgtaggaag	13	13	0	0	rs142957899		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:50368106C>T	uc003dad.1	-	5	1072	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Missense_Mutation_p.R159Q|RASSF1_uc003dab.1_Missense_Mutation_p.R240Q|RASSF1_uc003dac.2_Missense_Mutation_p.R159Q|RASSF1_uc003dae.1_Missense_Mutation_p.R310Q|RASSF1_uc003daf.1_Missense_Mutation_p.R159Q|RASSF1_uc010hlk.1_Non-coding_Transcript	NM_170714	NP_733830	Q9NS23	RASF1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 1 (RASSF1), transcript variant D, mRNA.	314	SARAH.				Ras protein signal transduction|cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein N-terminus binding|protein binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCCTCCTCCCGCTGCAGGAT	0.587													27	90					0	0	1	0	0	T	50368106	C	T	50368106	3	4	4	1	0	0	0	0	1	0	0	0	13084	652	23	1	97	1	RASSF1	3	50368106	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	7640529	50368106	147654324	5	95											
CACNA1D	776	broad.mit.edu	37	chr3	53757947	53757947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgcagctgtttggcgGcaagtttaattttgatgaaa	13	4	0	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:53757947G>A	uc003dgu.4	+	14	2244	c.2081G>A	c.(2080-2082)gGc>gAc	p.G694D	CACNA1D_uc003dgv.4_Missense_Mutation_p.G674D|CACNA1D_uc003dgy.4_Missense_Mutation_p.G674D|CACNA1D_uc003dgw.4_Missense_Mutation_p.G341D	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 1, mRNA.	674					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGTTTGGCGGCAAGTTTAAT	0.458													4	179					0	0	1	0	0	A	53757947	G	A	53757947	3	1	4	1	0	0	0	0	1	0	0	0	2541	1203	42	2	2247	2	CACNA1D	3	53757947	Missense_Mutation	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08	3389841	53757947	144264483	6	96											
SLIT2	9353	broad.mit.edu	37	chr4	20259495	20259495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattttgcatttcagtcagCttatggagaataagattagc	8	5	2	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr4:20259495C>T	uc003gpr.1	+	2	460	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	SLIT2_uc003gps.1_Missense_Mutation_p.L86F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	86					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTCAGTCAGCTTATGGAGAA	0.333													5	189					0	0	1	0	0	T	20259495	C	T	20259495	3	4	4	1	0	0	0	0	1	0	0	0	14740	797	28	2	266	2	SLIT2	4	20259495	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		20259495	170894781	7	97											
SPEF2	79925	broad.mit.edu	37	chr5	35800129	35800129	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccccagcttgactacacacaGatgctgctttactttgcttg	7	13	0	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr5:35800129G>A	uc003jjo.3	+	33	5001	c.4890G>A	c.(4888-4890)caG>caA	p.Q1630Q	SPEF2_uc003jjp.1_Silent_p.Q1116Q|SPEF2_uc003jjr.3_Silent_p.Q685Q	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1630					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTACACACAGATGCTGCTTT	0.463													8	268					0	0	1	0	0	A	35800129	G	A	35800129	2	1	4	1	0	0	0	0	0	0	0	1	15034	933	33	2		2	SPEF2	5	35800129	Silent	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		35800129	145115131	8	98											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	72					0	0	1	0	0	T	140453136	A	T	140453136	3	4	4	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0Z3-01A-11D-A13W-08		140453136	18685527	9	99											
MCF2L	23263	broad.mit.edu	37	chr13	113742643	113742643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttttggggaaacaggcGccaactcctgagattaaagc	10	9	1	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr13:113742643G>A	uc001vsu.3	+	23	2862	c.2862G>A	c.(2860-2862)gcG>gcA	p.A954A	MCF2L_uc001vsq.3_Silent_p.A954A|MCF2L_uc010tjr.2_Silent_p.A897A|MCF2L_uc001vsr.3_Silent_p.A901A|MCF2L_uc001vss.4_Silent_p.A895A|MCF2L_uc010tjs.2_Silent_p.A895A	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	927					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGAAACAGGCGCCAACTCCTG	0.522													5	187					0	0	1	0	0	A	113742643	G	A	113742643	2	1	4	1	0	0	0	0	0	0	0	1	9379	1074	38	1		1	MCF2L	13	113742643	Silent	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		113742643	1427235	10	100											
PLCB2	5330	broad.mit.edu	37	chr15	40585837	40585837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagcttagttcgatagCgcctcttggggtccccagga	13	11	1	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr15:40585837C>T	uc001zld.3	-	19	2451	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.R713H|PLCB2_uc010ucm.2_Missense_Mutation_p.R717H	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	717	C2.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGTTCGATAGCGCCTCTTGGG	0.582													4	136					0	0	1	0	0	T	40585837	C	T	40585837	3	4	4	1	0	0	0	0	1	0	0	0	12028	768	27	1	1459	1	PLCB2	15	40585837	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		40585837	61945555	11	101											
ABCC6	368	broad.mit.edu	37	chr16	16256941	16256941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcctgggttcggaatgCccggaccactgtgctgccct	16	13	0	0	rs63750146		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr16:16256941C>T	uc002den.4	-	23	3452	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T	ABCC6_uc010bvo.3_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1139	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GTTCGGAATGCCCGGACCACT	0.582													4	156					0	0	1	0	0	T	16256941	C	T	16256941	3	4	4	1	0	0	0	0	1	0	0	0	57	739	26	2	1128	2	ABCC6	16	16256941	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		16256941	74097812	12	102											
C3	718	broad.mit.edu	37	chr19	6682003	6682003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagaaggctttgtccagCtcatacttggagatgtatct	11	8	2	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:6682003C>T	uc002mfm.3	-	34	4361	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1433	Properdin-binding.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTTGTCCAGCTCATACTTGG	0.562													57	169					0	0	1	0	0	T	6682003	C	T	6682003	2	4	4	1	0	0	0	0	0	0	0	1	2204	796	28	2		2	C3	19	6682003	Silent	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		6682003	52446980	13	103											
SIN3B	23309	broad.mit.edu	37	chr19	16952630	16952630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacttcaagcagcaggtgCcgtataaagaggacaaaccc	11	10	1	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:16952630C>T	uc002ney.2	+	3	456	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	SIN3B_uc002new.3_Missense_Mutation_p.P145S|SIN3B_uc002nez.2_Missense_Mutation_p.P145S	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	145					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCAGCAGGTGCCGTATAAAGA	0.522													4	119					0	0	1	0	0	T	16952630	C	T	16952630	3	4	4	1	0	0	0	0	1	0	0	0	14326	739	26	2	447	2	SIN3B	19	16952630	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	10270627	16952630	42176353	14	104											
ZNF616	90317	broad.mit.edu	37	chr19	52618688	52618688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcattcattgcatttgtAaggtttctctccactatgaa	7	10	2	1			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:52618688A>G	uc002pym.3	-	3	2012	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTGCATTTGTAAGGTTTCTCT	0.418													3	77					0	0	1	0	0	G	52618688	A	G	52618688	3	3	4	1	0	0	0	0	1	0	0	0	18038	362	13	3	620	3	ZNF616	19	52618688	Missense_Mutation	SNP	A	TCGA-BJ-A0Z3-01A-11D-A13W-08	35666058	52618688	6510295	15	105											
RFPL1	5988	broad.mit.edu	37	chr22	29835022	29835022	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatctactttgctgttgctGttccatggtctctcagaaga	10	9	3	2			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr22:29835022G>C	uc003afn.3	+	0	451	c.242G>C	c.(241-243)tGt>tCt	p.C81S	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	81							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TGCTGTTGCTGTTCCATGGTC	0.517													42	151					0	0	1	0	0	C	29835022	G	C	29835022	3	2	4	1	0	0	0	0	1	0	0	0	13253	1377	48	4	244	4	RFPL1	22	29835022	Missense_Mutation	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		29835022	21469544	16	106											
VCAM1	7412	broad.mit.edu	37	chr1	101198098	101198098	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcctgtggagcaggcagctCcctaacggggagctacagcc	13	13	0	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:101198098C>A	uc001dti.3	+	6	1871	c.1650C>A	c.(1648-1650)ctC>ctA	p.L550L	VCAM1_uc010ouj.2_Silent_p.L488L|VCAM1_uc001dtj.3_Silent_p.L458L	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	550	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.Q549K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAGGCAGCTCCCTAACGGGG	0.478													8	56					0	0	1	0	0	A	101198098	C	A	101198098	2	1	5	1	0	0	0	0	0	0	0	1	17134	842	30	4		4	VCAM1	1	101198098	Silent	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		101198098	148052523	1	107											
SLC26A9	115019	broad.mit.edu	37	chr1	205892719	205892719	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcagtgtccatgacctGggccagtgcatagccatttc	10	11	1	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:205892719G>C	uc001hdp.3	-	13	1633	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	SLC26A9_uc001hdo.3_Missense_Mutation_p.Q175E|SLC26A9_uc001hdq.3_Missense_Mutation_p.Q507E	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	507						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.Q507K(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCCATGACCTGGGCCAGTGCA	0.493													16	28					0	0	1	0	0	C	205892719	G	C	205892719	3	2	5	1	0	0	0	0	1	0	0	0	14524	1357	47	4	1184	4	SLC26A9	1	205892719	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	104694621	205892719	43357902	2	108											
CNIH4	29097	broad.mit.edu	37	chr1	224544627	224544627	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgacggaggaggaggAtggaggcggtggtgttcgtc	23	6	0	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:224544627A>T	uc001hom.1	+	0	33	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	CNIH4_uc001hon.1_Non-coding_Transcript	NM_014184	NP_054903	Q9P003	CNIH4_HUMAN	Homo sapiens cornichon homolog 4 (Drosophila) (CNIH4), mRNA.	1					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GAGGAGGAGGATGGAGGCGGT	0.647													3	1					0	0	1	0	0	T	224544627	A	T	224544627	3	4	5	1	0	0	0	0	1	0	0	0	3605	333	12	5	3	5	CNIH4	1	224544627	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	18651908	224544627	24705994	3	109											
APOB	338	broad.mit.edu	37	chr2	21230694	21230694	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcatgcctcccagtaaactCtgccttcccttctccaaaca	3	17	3	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:21230694C>A	uc002red.3	-	25	9174	c.9046G>T	c.(9046-9048)Gag>Tag	p.E3016*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3016					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGTAAACTCTGCCTTCCCT	0.423													20	46					0	0	1	0	0	A	21230694	C	A	21230694	4	1	5	1	0	0	0	0	0	1	0	0	785	922	32	4	4661	4	APOB	2	21230694	Nonsense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		21230694	221968679	4	110											
PTH2R	5746	broad.mit.edu	37	chr2	209302540	209302540	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggattttatgcacagcttAaataaaacatgggccaatta	8	6	0	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:209302540A>C	uc010zjb.2	+	3	664	c.378A>C	c.(376-378)ttA>ttC	p.L126F	PTH2R_uc002vdb.3_Missense_Mutation_p.L115F	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	115						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGCACAGCTTAAATAAAACAT	0.413													8	53					0	0	1	0	0	C	209302540	A	C	209302540	3	2	5	1	0	0	0	0	1	0	0	0	12760	359	13	5	359	5	PTH2R	2	209302540	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	188071846	209302540	33896833	5	111											
DBR1	51163	broad.mit.edu	37	chr3	137886109	137886109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatgatatatacttcttggCcaatcatgagacaagaatat	6	6	2	3			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr3:137886109C>A	uc003erv.3	-	4	682	c.528G>T	c.(526-528)tgG>tgT	p.W176C	DBR1_uc003eru.3_Missense_Mutation_p.W125C	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	176						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TACTTCTTGGCCAATCATGAG	0.328													3	34					0	0	1	0	0	A	137886109	C	A	137886109	3	1	5	1	0	0	0	0	1	0	0	0	4257	740	26	4	1122	4	DBR1	3	137886109	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		137886109	60136321	6	112											
PDZD2	23037	broad.mit.edu	37	chr5	32087441	32087441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctccccgggggagaaagCagcggctccccctgactaca	11	18	0	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:32087441C>A	uc003jhl.3	+	19	4275	c.3887C>A	c.(3886-3888)gCa>gAa	p.A1296E	PDZD2_uc003jhm.3_Missense_Mutation_p.A1296E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1296					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGGAGAAAGCAGCGGCTCCC	0.652													26	55					0	0	1	0	0	A	32087441	C	A	32087441	3	1	5	1	0	0	0	0	1	0	0	0	11701	710	25	4	3961	4	PDZD2	5	32087441	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		32087441	148827819	7	113											
SPATS1	221409	broad.mit.edu	37	chr6	44336175	44336175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacaatccatatatgtacCcagaacagagtaaaggcttc	8	10	0	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:44336175C>T	uc021yzz.1	+	5	735	c.634C>T	c.(634-636)Cca>Tca	p.P212S	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Missense_Mutation_p.P97S|SPATS1_uc003oxk.3_Missense_Mutation_p.P212S	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	212										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATATATGTACCCAGAACAGAG	0.378													11	47					0	0	1	0	0	T	44336175	C	T	44336175	3	4	5	1	0	0	0	0	1	0	0	0	15017	623	22	2	652	2	SPATS1	6	44336175	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		44336175	126778892	8	114											
AIM1	202	broad.mit.edu	37	chr6	106968615	106968615	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaccggctttacatttgAtgcagaaccttgacacaaaa	7	10	1	3			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:106968615A>T	uc003prh.3	+	1	3220	c.2308A>T	c.(2308-2310)Atg>Ttg	p.M770L		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	770							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTACATTTGATGCAGAACCT	0.453													38	47					0	0	1	0	0	T	106968615	A	T	106968615	3	4	5	1	0	0	0	0	1	0	0	0	430	333	12	5	2314	5	AIM1	6	106968615	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	62632440	106968615	64146452	9	115											
TAX1BP1	8887	broad.mit.edu	37	chr7	27856087	27856087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgttctcacattgtcaaaTgcacaaccagttctgcaata	5	10	3	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:27856087T>A	uc003szl.3	+	13	2066	c.1884T>A	c.(1882-1884)aaT>aaA	p.N628K	TAX1BP1_uc011jzo.2_Intron|TAX1BP1_uc003szk.3_Intron|TAX1BP1_uc011jzp.2_Intron	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	628					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CATTGTCAAATGCACAACCAG	0.378													37	73					0	0	1	0	0	A	27856087	T	A	27856087	3	1	5	1	0	0	0	0	1	0	0	0	15591	1461	51	5	1934	5	TAX1BP1	7	27856087	Missense_Mutation	SNP	T	TCGA-BJ-A0Z9-01A-11D-A10S-08		27856087	131282576	10	116											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				20	44					0	0	1	0	0	T	140453136	A	T	140453136	3	4	5	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	112597049	140453136	18685527	11	117											
ZNF467	168544	broad.mit.edu	37	chr7	149463284	149463284	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacctcctcttctgcctcctGatcttcgtcctccaccttca	4	19	4	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:149463284G>A	uc003wgd.2	-	4	448	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	ZNF467_uc003wgc.3_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCCTCCTGATCTTCGTCC	0.542													19	28					0	0	1	0	0	A	149463284	G	A	149463284	4	1	5	1	0	0	0	0	0	1	0	0	17924	1299	45	2	1484	2	ZNF467	7	149463284	Nonsense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	9010148	149463284	9675379	12	118											
KIAA1967	57805	broad.mit.edu	37	chr8	22476665	22476665	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccttctccaccttgcagagGagagccataaccgtttctca	7	14	2	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:22476665G>T	uc003xch.3	+	19	2773	c.2524G>T	c.(2524-2526)Gag>Tag	p.E842*	KIAA1967_uc003xci.3_Nonsense_Mutation_p.E842*|KIAA1967_uc003xcj.1_Nonsense_Mutation_p.E511*	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	842					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCTTGCAGAGGAGAGCCATAA	0.617													5	15					0	0	1	0	0	T	22476665	G	T	22476665	4	4	5	1	0	0	0	0	0	1	0	0	8265	1175	41	4	2598	4	KIAA1967	8	22476665	Nonsense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		22476665	123887357	13	119											
PXDNL	137902	broad.mit.edu	37	chr8	52339273	52339273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtttatattctttccaAcctcgacacttgtatcctga	4	10	1	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:52339273A>G	uc003xqu.4	-	12	1672	c.1571T>C	c.(1570-1572)gTt>gCt	p.V524A		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	524	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATTCTTTCCAACCTCGACACT	0.338													3	5					0	0	1	0	0	G	52339273	A	G	52339273	3	3	5	1	0	0	0	0	1	0	0	0	12848	43	2	3	2864	3	PXDNL	8	52339273	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	29862608	52339273	94024749	14	120											
PLEC	5339	broad.mit.edu	37	chr8	144994984	144994984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgcacagagcgctcacctCgctgcagctgctggtagagc	12	15	1	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:144994984C>T	uc003zaf.1	-	31	9586	c.9416G>A	c.(9415-9417)cGa>cAa	p.R3139Q	PLEC_uc003zab.1_Missense_Mutation_p.R3002Q|PLEC_uc003zac.1_Missense_Mutation_p.R3006Q|PLEC_uc003zad.2_Missense_Mutation_p.R3002Q|PLEC_uc003zae.1_Missense_Mutation_p.R2970Q|PLEC_uc003zag.1_Missense_Mutation_p.R2980Q|PLEC_uc003zah.2_Missense_Mutation_p.R2988Q|PLEC_uc003zaj.2_Missense_Mutation_p.R3029Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3139	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCTCACCTCGCTGCAGCTG	0.687													19	23					0	0	1	0	0	T	144994984	C	T	144994984	3	4	5	1	0	0	0	0	1	0	0	0	12052	884	31	1	4642	1	PLEC	8	144994984	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08	92655711	144994984	1369038	15	121											
KCNV2	169522	broad.mit.edu	37	chr9	2718725	2718725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgcccgacctgaggcGcttcgcgcgcagcgccctca	11	20	1	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr9:2718725G>A	uc003zho.2	+	0	1200	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	329						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GACCTGAGGCGCTTCGCGCGC	0.672													16	37					0	0	1	0	0	A	2718725	G	A	2718725	3	1	5	1	0	0	0	0	1	0	0	0	8095	1087	38	1	988	1	KCNV2	9	2718725	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		2718725	138494706	16	122											
C11orf70	85016	broad.mit.edu	37	chr11	101951999	101951999	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattacctcttctgtctttaAagtttcagcttatgtaagtg	7	7	4	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr11:101951999A>C	uc001pgp.3	+	5	695	c.662A>C	c.(661-663)aAa>aCa	p.K221T	C11orf70_uc001pgq.3_Missense_Mutation_p.K183T	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	221										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TCTGTCTTTAAAGTTTCAGCT	0.313													10	29					0	0	1	0	0	C	101951999	A	C	101951999	3	2	5	1	0	0	0	0	1	0	0	0	1659	14	1	5	566	5	C11orf70	11	101951999	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08		101951999	33054517	17	123											
LOC100132247	100132247	broad.mit.edu	37	chr16	22545452	22545454	+	In_Frame_Del	DEL	ATA	ATA	-													ccttccaccctcagcggatgAtaatctcaagacaccttccg							TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr16:22545452_22545454delATA	uc010bxg.3	+	8	1330_1332	c.1148_1150delATA	c.(1147-1152)gataat>gat	p.N384del	LOC100132247_uc010vbv.2_In_Frame_Del_p.N384del|LOC100132247_uc021tew.1_In_Frame_Del_p.N384del|LOC100132247_uc010bxi.3_In_Frame_Del_p.N365del|LOC100132247_uc010bxk.3_In_Frame_Del_p.N201del	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		TCAGCGGATGATAATCTCAAGAC	0.576													3	5	---	---	---	---						-	22545454	ATA	-	22545452	7	5	5	1	0	1	0	1	0	0	0	0	8868	333	12	0	1174	0	LOC100132247	16	22545452	In_Frame_Del	DEL	ATA	TCGA-BJ-A0Z9-01A-11D-A10S-08		22545452	67809301	18	124											
VPS53	55275	broad.mit.edu	37	chr17	465847	465847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtactgagctgagagcaTtgcaccatgcacttcttgta	9	11	1	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr17:465847T>C	uc010cjo.2	-	13	1599	c.1452A>G	c.(1450-1452)caA>caG	p.Q484Q	VPS53_uc002frk.3_Silent_p.Q3Q|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Silent_p.Q455Q|VPS53_uc002frn.2_Silent_p.Q484Q|VPS53_uc002fro.2_Silent_p.Q286Q|VPS53_uc010cjp.1_Silent_p.Q207Q	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	484					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCTGAGAGCATTGCACCATGC	0.567													6	59					0	0	1	0	0	C	465847	T	C	465847	2	2	5	1	0	0	0	0	0	0	0	1	17212	1490	52	3		3	VPS53	17	465847	Silent	SNP	T	TCGA-BJ-A0Z9-01A-11D-A10S-08		465847	80729363	19	125											
SIGLEC11	114132	broad.mit.edu	37	chr19	50455611	50455611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgacgccagctcccagGgcagcccccaggccaagtcc	12	19	0	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr19:50455611G>A	uc010ybh.2	-	8	1783	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A	SIGLEC11_uc010ybi.2_Silent_p.A468A	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	564					cell adhesion	integral to membrane	sugar binding	p.F563F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGCTCCCAGGGCAGCCCCCA	0.657													27	36					0	0	1	0	0	A	50455611	G	A	50455611	2	1	5	1	0	0	0	0	0	0	0	1	14307	1219	43	2		2	SIGLEC11	19	50455611	Silent	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		50455611	8673372	20	126											
SEL1L2	80343	broad.mit.edu	37	chr20	13830243	13830243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcagccagttccatctcGttgtgaactgctggcaagag	11	10	2	2			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr20:13830243G>A	uc010gcf.3	-	19	2037	c.1955C>T	c.(1954-1956)aCg>aTg	p.T652M	SEL1L2_uc002woq.4_Missense_Mutation_p.T513M|SEL1L2_uc010zrl.2_Missense_Mutation_p.T539M|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	652						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTCCATCTCGTTGTGAACTG	0.483													11	37					0	0	1	0	0	A	13830243	G	A	13830243	3	1	5	1	0	0	0	0	1	0	0	0	14011	1145	40	1	115	1	SEL1L2	20	13830243	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		13830243	49195277	21	127											
CXorf65	158830	broad.mit.edu	37	chrX	70324246	70324246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcatcacattgtatgcGcagtgcaactaagaacaagg	11	9	1	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:70324246G>A	uc011mpo.2	-	4	560	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	CXorf65_uc011mpp.2_Missense_Mutation_p.R62C	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	110								p.L109P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CATTGTATGCGCAGTGCAACT	0.478													3	16					0	0	1	0	0	A	70324246	G	A	70324246	3	1	5	1	0	0	0	0	1	0	0	0	4117	1087	38	1	231	1	CXorf65	23	70324246	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		70324246	84946314	22	128											
ARMCX2	9823	broad.mit.edu	37	chrX	100911988	100911988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggtgctgctaccccaggaCcctcggtcacctcagtgggt	12	14	2	0			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:100911988C>A	uc004eid.2	-	2	942	c.587G>T	c.(586-588)gGt>gTt	p.G196V	ARMCX2_uc010nnt.2_Missense_Mutation_p.G196V|ARMCX2_uc004eie.3_Missense_Mutation_p.G196V|ARMCX2_uc004eif.3_Missense_Mutation_p.G196V|ARMCX2_uc004eig.3_Missense_Mutation_p.G196V|ARMCX2_uc022caq.1_Missense_Mutation_p.G196V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	196	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TACCCCAGGACCCTCGGTCAC	0.662													19	34					0	0	1	0	0	A	100911988	C	A	100911988	3	1	5	1	0	0	0	0	1	0	0	0	960	507	18	4	1315	4	ARMCX2	23	100911988	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08	30587742	100911988	54358572	23	129											
FLNA	2316	broad.mit.edu	37	chrX	153593301	153593301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctgattgccacactcGgtgcccaccttcacttcgaa	6	16	2	1			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:153593301G>A	uc004fkk.2	-	11	1965	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	FLNA_uc010nuu.1_Silent_p.T572T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	572					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCACACTCGGTGCCCACCT	0.642													7	156					0	0	1	0	0	A	153593301	G	A	153593301	2	1	5	1	0	0	0	0	0	0	0	1	5933	1103	39	1		1	FLNA	23	153593301	Silent	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	52681313	153593301	1677259	24	130											
SLC25A24	29957	broad.mit.edu	37	chr1	108697672	108697672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtttgtaccatttcccCtccaaagcgagcggatacct	8	13	0	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:108697672C>A	uc001dvn.4	-	5	969	c.755G>T	c.(754-756)aGg>aTg	p.R252M	SLC25A24_uc001dvm.3_Missense_Mutation_p.R233M	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	252					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ACCATTTCCCCTCCAAAGCGA	0.388													4	123					0	0	1	0	0	A	108697672	C	A	108697672	3	1	6	1	0	0	0	0	1	0	0	0	14487	681	24	4	698	4	SLC25A24	1	108697672	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		108697672	140552949	1	131											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			102	150					0	0	1	0	0	C	115256529	T	C	115256529	3	2	6	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	6558857	115256529	133994092	2	132											
ATF6	22926	broad.mit.edu	37	chr1	161816351	161816351	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggacacatcagatggtattAtccagaaaaacagctacagg	9	8	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:161816351A>T	uc001gbs.3	+	9	1417	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F	ATF6_uc001gbq.2_Missense_Mutation_p.I434F	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	434					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AGATGGTATTATCCAGAAAAA	0.413													4	102					0	0	1	0	0	T	161816351	A	T	161816351	3	4	6	1	0	0	0	0	1	0	0	0	1084	449	16	5	1338	5	ATF6	1	161816351	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08	46559822	161816351	87434270	3	133											
PROC	5624	broad.mit.edu	37	chr2	128186036	128186036	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agcaccaccgacaatgacatCgcactgctgcacctggccca	8	17	0	1	rs112356403		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:128186036C>G	uc010yzi.2	+	7	1095	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	PROC_uc002tok.3_Missense_Mutation_p.I300M|PROC_uc002tol.3_Missense_Mutation_p.I321M|PROC_uc010yzj.2_Missense_Mutation_p.I195M|PROC_uc010yzk.2_Missense_Mutation_p.I355M			P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	300	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAATGACATCGCACTGCTGC	0.632													3	103					0	0	1	0	0	G	128186036	C	G	128186036	3	3	6	1	0	0	0	0	1	0	0	0	12545	874	31	4	930	4	PROC	2	128186036	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		128186036	115013337	4	134											
ZRANB3	84083	broad.mit.edu	37	chr2	136026599	136026599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caataaggtagtgaatattcAcagaactgcactggccaatt	8	8	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:136026599A>G	uc002tum.3	-	10	1436	c.1319T>C	c.(1318-1320)gTg>gCg	p.V440A	ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Missense_Mutation_p.V440A|ZRANB3_uc002tun.1_3'UTR	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	440	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGAATATTCACAGAACTGCA	0.423													8	194					0	0	1	0	0	G	136026599	A	G	136026599	3	3	6	1	0	0	0	0	1	0	0	0	18221	159	6	3	1964	3	ZRANB3	2	136026599	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08	7840563	136026599	107172774	5	135											
LPP	4026	broad.mit.edu	37	chr3	188584007	188584007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatactctggagcagtgcaAtgtgtgttccaagcccatca	10	10	2	0			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr3:188584007A>G	uc003frs.2	+	8	1676	c.1430A>G	c.(1429-1431)aAt>aGt	p.N477S	LPP_uc011bsg.2_Missense_Mutation_p.N330S|LPP_uc011bsi.2_Missense_Mutation_p.N477S|LPP_uc011bsj.2_Missense_Mutation_p.N314S	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	477	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGCAGTGCAATGTGTGTTCC	0.532			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								35	48					0	0	1	0	0	G	188584007	A	G	188584007	3	3	6	1	0	0	0	0	1	0	0	0	8923	101	4	3	1456	3	LPP	3	188584007	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08		188584007	9438423	6	136											
FBN2	2201	broad.mit.edu	37	chr5	127637170	127637170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacgtccatttctgcacaCctgaccaaaaaaggaactgc	6	13	1	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr5:127637170C>T	uc003kuu.3	-	46	6389	c.5950G>A	c.(5950-5952)Gtg>Atg	p.V1984M		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1984	EGF-like 33; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTCTGCACACCTGACCAAAA	0.368													6	134					0	0	1	0	0	T	127637170	C	T	127637170	3	4	6	1	0	0	0	0	1	0	0	0	5703	507	18	2	2864	2	FBN2	5	127637170	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		127637170	53278090	7	137											
LAMA4	3910	broad.mit.edu	37	chr6	112462655	112462655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagttcccaaattatagacGtataccagattatcattttt	4	7	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr6:112462655G>A	uc003pvu.2	-	20	3027	c.2718C>T	c.(2716-2718)taC>taT	p.Y906Y	LAMA4_uc003pvv.2_Silent_p.Y899Y|LAMA4_uc003pvt.2_Silent_p.Y899Y	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	906	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATTATAGACGTATACCAGAT	0.368													26	62					0	0	1	0	0	A	112462655	G	A	112462655	2	1	6	1	0	0	0	0	0	0	0	1	8608	1140	40	1		1	LAMA4	6	112462655	Silent	SNP	G	TCGA-BJ-A0ZA-01A-11D-A10S-08		112462655	58652412	8	138											
SRPK2	6733	broad.mit.edu	37	chr7	104786953	104786953	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacctgcagaccctgaAggaggaggagcacctgcttt	11	14	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr7:104786953A>T	uc003vcv.3	-	7	862	c.774T>A	c.(772-774)ccT>ccA	p.P258P	SRPK2_uc003vct.3_Silent_p.P247P|SRPK2_uc003vcu.3_Silent_p.P247P|SRPK2_uc003vcw.1_Silent_p.P247P	NM_182692	NP_872634	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 1, mRNA.	247	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAGACCCTGAAGGAGGAGGAG	0.498													8	44					0	0	1	0	0	T	104786953	A	T	104786953	2	4	6	1	0	0	0	0	0	0	0	1	15159	59	3	5		5	SRPK2	7	104786953	Silent	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08		104786953	54351710	9	139											
MAT1A	4143	broad.mit.edu	37	chr10	82036179	82036179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggctgcaggtggtagaCggtgtcttcgtccaggtact	15	9	1	1	rs147356286		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr10:82036179C>T	uc001kbw.3	-	5	976	c.721G>A	c.(721-723)Gtc>Atc	p.V241I		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	241					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGTGGTAGACGGTGTCTTCG	0.592													7	131					0	0	1	0	0	T	82036179	C	T	82036179	3	4	6	1	0	0	0	0	1	0	0	0	9329	536	19	1	482	1	MAT1A	10	82036179	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		82036179	53498568	10	140											
PC	5091	broad.mit.edu	37	chr11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagggacgtgatgggggCatctgtgccagggacaacgg	18	8	1	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:66638642C>T	uc001ojo.1	-	6	796	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_uc001ojp.1_Missense_Mutation_p.A172T|PC_uc001ojn.1_Missense_Mutation_p.A172T	NM_001040716	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	172	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622													12	130					0	0	1	0	0	T	66638642	C	T	66638642	3	4	6	1	0	0	0	0	1	0	0	0	11497	710	25	2	3090	2	PC	11	66638642	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		66638642	68367874	11	141											
AMOTL1	154810	broad.mit.edu	37	chr11	94592844	94592844	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcaccatccgacactTtgccatgaatgccgcagcca	10	14	0	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:94592844T>G	uc001pfb.3	+	8	2269	c.2099T>G	c.(2098-2100)tTt>tGt	p.F700C	AMOTL1_uc001pfc.3_Missense_Mutation_p.F650C	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	700						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATCCGACACTTTGCCATGAAT	0.522													3	21					0	0	1	0	0	G	94592844	T	G	94592844	3	3	6	1	0	0	0	0	1	0	0	0	583	1841	64	5	2133	5	AMOTL1	11	94592844	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	27954202	94592844	40413672	12	142											
TBX5	6910	broad.mit.edu	37	chr12	114793765	114793765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctggcatacatgcaagCttgccgctgtgccgactctg	12	12	1	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:114793765C>T	uc001tvo.3	-	8	1624	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	TBX5_uc001tvp.3_Missense_Mutation_p.A377T|TBX5_uc001tvq.3_Missense_Mutation_p.A327T	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	377					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TACATGCAAGCTTGCCGCTGT	0.602													62	89					0	0	1	0	0	T	114793765	C	T	114793765	3	4	6	1	0	0	0	0	1	0	0	0	15658	797	28	2	431	2	TBX5	12	114793765	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		114793765	19058130	13	143											
DNAH10	196385	broad.mit.edu	37	chr12	124408831	124408831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgtgattaggaaacaTttccctggagaaaagcaaaa	9	6	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:124408831T>C	uc001uft.4	+	65	11289	c.11264T>C	c.(11263-11265)aTt>aCt	p.I3755T	DNAH10_uc001ufu.4_5'Flank	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3755					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAGGAAACATTTCCCTGGAG	0.413													5	11					0	0	1	0	0	C	124408831	T	C	124408831	3	2	6	1	0	0	0	0	1	0	0	0	4598	1493	52	3	11526	3	DNAH10	12	124408831	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	9615066	124408831	9443064	14	144											
HS3ST2	9956	broad.mit.edu	37	chr16	22926609	22926609	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtcagtggcgagcgacTcatcactgacccggccggcg	13	15	3	1			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:22926609T>A	uc002dli.3	+	1	902	c.830T>A	c.(829-831)cTc>cAc	p.L277H		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	277						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	p.L277H(2)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGCGAGCGACTCATCACTGAC	0.557													8	218					0	0	1	0	0	A	22926609	T	A	22926609	3	1	6	1	0	0	0	0	1	0	0	0	7364	1551	54	5	836	5	HS3ST2	16	22926609	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08		22926609	67428144	15	145											
BBS2	583	broad.mit.edu	37	chr16	56539933	56539933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaagcatgaatgctcaTggcatgatttttcgactgaa	9	7	2	3			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:56539933T>C	uc002ejd.2	-	6	967	c.733A>G	c.(733-735)Atg>Gtg	p.M245V	BBS2_uc010ccg.2_Missense_Mutation_p.M245V	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	245					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGAATGCTCATGGCATGATTT	0.343									Bardet-Biedl syndrome				4	76					0	0	1	0	0	C	56539933	T	C	56539933	3	2	6	1	0	0	0	0	1	0	0	0	1338	1464	51	3	1476	3	BBS2	16	56539933	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	33613324	56539933	33814820	16	146											
DHX8	1659	broad.mit.edu	37	chr17	41570183	41570183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatcacgttccaggacccGggagaggaataaagtgaagt	13	8	1	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr17:41570183G>T	uc002idu.1	+	5	710	c.638G>T	c.(637-639)cGg>cTg	p.R213L	DHX8_uc010wif.1_Missense_Mutation_p.R122L|DHX8_uc010wig.2_Missense_Mutation_p.R213L	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	213	Arg/Ser-rich (RS domain).					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCCAGGACCCGGGAGAGGAAT	0.547													55	161					0	0	1	0	0	T	41570183	G	T	41570183	3	4	6	1	0	0	0	0	1	0	0	0	4515	1116	39	4	660	4	DHX8	17	41570183	Missense_Mutation	SNP	G	TCGA-BJ-A0ZA-01A-11D-A10S-08		41570183	39625027	17	147											
DSC2	1824	broad.mit.edu	37	chr18	28662246	28662246	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattggttttggcatctgtTacaattttaaaattgccatt	6	6	2	0			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:28662246T>C	uc002kwl.4	-	8	1675	c.1221A>G	c.(1219-1221)gtA>gtG	p.V407V	DSC2_uc002kwk.4_Silent_p.V407V	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	407	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGCATCTGTTACAATTTTAA	0.308													3	98					0	0	1	0	0	C	28662246	T	C	28662246	2	2	6	1	0	0	0	0	0	0	0	1	4766	1741	61	3		3	DSC2	18	28662246	Silent	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08		28662246	49415002	18	148											
MAPRE2	10982	broad.mit.edu	37	chr18	32677460	32677460	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccctggctgcattagtTtgaagaaagtaaaatttcaa	7	7	2	2			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:32677460T>C	uc002kyg.3	+	2	481	c.301T>C	c.(301-303)Ttg>Ctg	p.L101L	MAPRE2_uc010xcb.2_Silent_p.L58L|MAPRE2_uc010xcc.2_Silent_p.L89L|MAPRE2_uc002kyf.2_Silent_p.L101L|MAPRE2_uc002kyh.3_Silent_p.L48L|MAPRE2_uc010xcd.2_Silent_p.L58L	NM_014268	NP_001137298	Q15555	MARE2_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.	101	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGCATTAGTTTGAAGAAAGT	0.403													3	92					0	0	1	0	0	C	32677460	T	C	32677460	2	2	6	1	0	0	0	0	0	0	0	1	9295	1838	64	3		3	MAPRE2	18	32677460	Silent	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	4015214	32677460	45399788	19	149											
CSF3R	1441	broad.mit.edu	37	chr1	36937076	36937076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagtgggacgagaggtccCggctgagttataggccacaa	16	9	0	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:36937076C>T	uc001cax.2	-	9	1827	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	CSF3R_uc001cav.2_Missense_Mutation_p.G415R|CSF3R_uc001caw.2_Missense_Mutation_p.G415R	NM_156039	NP_724781	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 3, mRNA.	415	Fibronectin type-III 3.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGAGAGGTCCCGGCTGAGTTA	0.592													139	180					0	0	1	0	0	T	36937076	C	T	36937076	3	4	7	1	0	0	0	0	1	0	0	0	3937	652	23	1	1489	1	CSF3R	1	36937076	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		36937076	212313545	1	150											
KIF2C	11004	broad.mit.edu	37	chr1	45218850	45218850	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcagtggctgaaataccattGaggatggtcagcgaggagat	15	6	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:45218850G>C	uc001cmg.4	+	5	601	c.486G>C	c.(484-486)ttG>ttC	p.L162F	KIF2C_uc010olb.2_Intron|KIF2C_uc010olc.2_Missense_Mutation_p.L49F|KIF2C_uc001cmh.4_Missense_Mutation_p.L108F	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	162	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAATACCATTGAGGATGGTCA	0.547													3	135					0	0	1	0	0	C	45218850	G	C	45218850	3	2	7	1	0	0	0	0	1	0	0	0	8299	1281	45	4	508	4	KIF2C	1	45218850	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	8281774	45218850	204031771	2	151			1	2		2	2	14	G		2.519613e-05
KIF2C	11004	broad.mit.edu	37	chr1	45218863	45218863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taccattgaggatggtcagcGaggagatggaagagcaagtc	15	6	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:45218863G>A	uc001cmg.4	+	5	614	c.499G>A	c.(499-501)Gag>Aag	p.E167K	KIF2C_uc010olb.2_Intron|KIF2C_uc010olc.2_Missense_Mutation_p.E54K|KIF2C_uc001cmh.4_Missense_Mutation_p.E113K	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	167	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GATGGTCAGCGAGGAGATGGA	0.532													4	130					0	0	1	0	0	A	45218863	G	A	45218863	3	1	7	1	0	0	0	0	1	0	0	0	8299	1059	37	1	521	1	KIF2C	1	45218863	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	13	45218863	204031758	3	152			1	2		2	2	14	G		2.519613e-05
ARHGAP29	9411	broad.mit.edu	37	chr1	94639989	94639989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaattttctgtagagtttgCtggtcaaagccattaaattt	8	5	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:94639989C>T	uc001dqj.4	-	22	3591	c.3222G>A	c.(3220-3222)caG>caA	p.Q1074Q	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	1074					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGAGTTTGCTGGTCAAAGC	0.388													5	226					0	0	1	0	0	T	94639989	C	T	94639989	2	4	7	1	0	0	0	0	0	0	0	1	878	796	28	2		2	ARHGAP29	1	94639989	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	49421126	94639989	154610632	4	153											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531845	150531845	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacggagttcaacgtgacttCtccgagcaactgttctcacc	9	13	3	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:150531845C>A	uc009wlw.3	+	16	3073	c.2915C>A	c.(2914-2916)tCt>tAt	p.S972Y	ADAMTSL4_uc001eux.3_Missense_Mutation_p.S949Y|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.S910Y|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.S112Y	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	949	TSP type-1 6.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AACGTGACTTCTCCGAGCAAC	0.612											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	95					0	0	1	0	0	A	150531845	C	A	150531845	3	1	7	1	0	0	0	0	1	0	0	0	277	913	32	4	2979	4	ADAMTSL4	1	150531845	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	55891856	150531845	98718776	5	154											
NES	10763	broad.mit.edu	37	chr1	156641203	156641203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagtgactcttggtactctCcctttcccaggttctcttcc	6	15	4	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:156641203C>T	uc001fpq.3	-	3	2910	c.2777G>A	c.(2776-2778)gGa>gAa	p.G926E	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	926	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGGTACTCTCCCTTTCCCAG	0.527													6	246					0	0	1	0	0	T	156641203	C	T	156641203	3	4	7	1	0	0	0	0	1	0	0	0	10337	855	30	2	2092	2	NES	1	156641203	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	6109358	156641203	92609418	6	155											
CACNA1E	777	broad.mit.edu	37	chr1	181731728	181731728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaactatttccgagacaccTggaatatctttgacttcatc	6	10	2	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:181731728T>C	uc009wxt.3	+	32	4819	c.4624T>C	c.(4624-4626)Tgg>Cgg	p.W1542R	CACNA1E_uc001gow.3_Missense_Mutation_p.W1542R|CACNA1E_uc009wxs.3_Missense_Mutation_p.W1523R|CACNA1E_uc001gox.1_Missense_Mutation_p.W768R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1542					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGAGACACCTGGAATATCTT	0.363													11	45					0	0	1	0	0	C	181731728	T	C	181731728	3	2	7	1	0	0	0	0	1	0	0	0	2542	1580	55	3	4754	3	CACNA1E	1	181731728	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	25090525	181731728	67518893	7	156											
ELF3	1999	broad.mit.edu	37	chr1	201981484	201981484	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgtcagcttccagctcttCtgatgagctcagttggatca	9	11	5	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:201981484C>T	uc001gxg.4	+	2	3590	c.398C>T	c.(397-399)tCt>tTt	p.S133F	ELF3_uc001gxi.4_Missense_Mutation_p.S133F|ELF3_uc001gxh.4_Missense_Mutation_p.S133F	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	133					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCCAGCTCTTCTGATGAGCTC	0.582													4	112					0	0	1	0	0	T	201981484	C	T	201981484	3	4	7	1	0	0	0	0	1	0	0	0	5055	913	32	2	408	2	ELF3	1	201981484	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	20249756	201981484	47269137	8	157											
HHIPL2	79802	broad.mit.edu	37	chr1	222717148	222717148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccactcctacctgctcGgcaacaaagaagcgatgggt	9	14	0	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:222717148G>A	uc001hnh.1	-	1	763	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	235					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTACCTGCTCGGCAACAAAGA	0.622													10	86					0	0	1	0	0	A	222717148	G	A	222717148	2	1	7	1	0	0	0	0	0	0	0	1	7094	1103	39	1		1	HHIPL2	1	222717148	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	20735664	222717148	26533473	9	158											
CD207	50489	broad.mit.edu	37	chr2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttgttgaatggcgtgTcatccacccaggaccagtcc	11	13	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:71058862T>C	uc002shg.3	-	4	853	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	269	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572													5	125					0	0	1	0	0	C	71058862	T	C	71058862	3	2	7	1	0	0	0	0	1	0	0	0	2983	1667	58	3	188	3	CD207	2	71058862	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		71058862	172140511	10	159											
TTN	7273	broad.mit.edu	37	chr2	179408637	179408637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgtattttccagcatcGtaccgattaactttgtccac	6	10	0	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:179408637G>A	uc021vsy.1	-	294	88755	c.88530C>T	c.(88528-88530)taC>taT	p.Y29510Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y23205Y|TTN_uc021vta.1_Silent_p.Y23138Y|TTN_uc021vtb.1_Silent_p.Y23013Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30437	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGCATCGTACCGATTAA	0.413													44	74					0	0	1	0	0	A	179408637	G	A	179408637	2	1	7	1	0	0	0	0	0	0	0	1	16732	1140	40	1		1	TTN	2	179408637	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	108349775	179408637	63790736	11	160											
HTR2B	3357	broad.mit.edu	37	chr2	231973299	231973299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaggagaagcgtatctagtaGaatgattgatgaagactgaa	13	3	1	7			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:231973299G>C	uc002vro.3	-	3	1883	c.1378C>G	c.(1378-1380)Cta>Gta	p.L460V	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Missense_Mutation_p.L393V	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	460					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	GTATCTAGTAGAATGATTGAT	0.393													3	72					0	0	1	0	0	C	231973299	G	C	231973299	3	2	7	1	0	0	0	0	1	0	0	0	7442	933	33	4	71	4	HTR2B	2	231973299	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	52564662	231973299	11226074	12	161											
FANCD2	2177	broad.mit.edu	37	chr3	10091163	10091163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgttaaacccatctgctAtgatgatgaatgctgtcttt	8	7	2	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:10091163A>G	uc003buw.3	+	16	1597	c.1519A>G	c.(1519-1521)Atg>Gtg	p.M507V	FANCD2_uc003bux.1_Missense_Mutation_p.M507V|FANCD2_uc003buy.1_Missense_Mutation_p.M507V|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	507					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCCATCTGCTATGATGATGAA	0.418			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	258					0	0	1	0	0	G	10091163	A	G	10091163	3	3	7	1	0	0	0	0	1	0	0	0	5665	449	16	3	1581	3	FANCD2	3	10091163	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08		10091163	187931267	13	162											
CAMKV	79012	broad.mit.edu	37	chr3	49899480	49899480	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaggcctcaaactcacatCttgaggatgcctatctcgtt	7	14	4	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:49899480C>T	uc003cxt.1	-	2	418	c.225G>A	c.(223-225)aaG>aaA	p.K75K	CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Silent_p.K75K|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.K75K|CAMKV_uc011bcz.1_Intron|CAMKV_uc011bda.1_Silent_p.K75K|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	75	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAACTCACATCTTGAGGATGC	0.597													4	48					0	0	1	0	0	T	49899480	C	T	49899480	2	4	7	1	0	0	0	0	0	0	0	1	2608	912	32	2		2	CAMKV	3	49899480	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	39808317	49899480	148122950	14	163											
TOPBP1	11073	broad.mit.edu	37	chr3	133329896	133329896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggattttttttctccatctCattgctgcaagtgctagtct	7	9	3	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:133329896C>G	uc003eps.3	-	24	4257	c.4125G>C	c.(4123-4125)atG>atC	p.M1375I		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1375					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTCTCCATCTCATTGCTGCAA	0.353								Other conserved DNA damage response genes					8	167					0	0	1	0	0	G	133329896	C	G	133329896	3	3	7	1	0	0	0	0	1	0	0	0	16366	826	29	4	459	4	TOPBP1	3	133329896	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	83430416	133329896	64692534	15	164											
AMOTL2	51421	broad.mit.edu	37	chr3	134089564	134089564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcagcatgctggaagtGcgggctgccgcgggcacggt	17	11	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:134089564G>A	uc003eqf.2	-	1	1003	c.886C>T	c.(886-888)Cac>Tac	p.H296Y	AMOTL2_uc003eqg.1_Missense_Mutation_p.H238Y|AMOTL2_uc003eqh.1_Missense_Mutation_p.H238Y	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	238										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCTGGAAGTGCGGGCTGCCG	0.587													6	85					0	0	1	0	0	A	134089564	G	A	134089564	3	1	7	1	0	0	0	0	1	0	0	0	584	1319	46	2	1666	2	AMOTL2	3	134089564	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	759668	134089564	63932866	16	165											
ATR	545	broad.mit.edu	37	chr3	142268516	142268516	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtagaacttgtaatgtcctCtgaaaaagaatgcaacaatt	7	6	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:142268516C>G	uc003eux.4	-	15	3099	c.2977_splice	c.e15-1	p.R993_splice		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	993					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAATGTCCTCTGAAAAAGAA	0.343								Other conserved DNA damage response genes					3	49					0	0	1	0	0	G	142268516	C	G	142268516	5	3	7	1	0	0	0	0	0	0	1	0	1204	927	32	4	5090	4	ATR	3	142268516	Splice_Site	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	8178952	142268516	55753914	17	166											
PLCH1	23007	broad.mit.edu	37	chr3	155200705	155200705	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgactgacatgtgggcagtaGatacaatggtgtccccttgg	13	8	0	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:155200705G>C	uc021xge.1	-	22	3411	c.3134C>G	c.(3133-3135)tCt>tGt	p.S1045C	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1007C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1045					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGGCAGTAGATACAATGGT	0.463													3	177					0	0	1	0	0	C	155200705	G	C	155200705	3	2	7	1	0	0	0	0	1	0	0	0	12037	942	33	4	1951	4	PLCH1	3	155200705	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	12932189	155200705	42821725	18	167											
TTC14	151613	broad.mit.edu	37	chr3	180328136	180328136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagataccgtttaaatAcaaatcaaggagaatatgaa	7	5	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:180328136A>G	uc003fkk.3	+	11	2251	c.2119A>G	c.(2119-2121)Aca>Gca	p.T707A	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Intron	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	707							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCGTTTAAATACAAATCAAGG	0.378													3	101					0	0	1	0	0	G	180328136	A	G	180328136	3	3	7	1	0	0	0	0	1	0	0	0	16678	391	14	3	2195	3	TTC14	3	180328136	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	25127431	180328136	17694294	19	168											
GRID2	2895	broad.mit.edu	37	chr4	94693647	94693647	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaccgaggcacctccataTgagcatcaaacaaatctctt	6	13	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:94693647T>C	uc011cdt.2	+	15	3280	c.3022T>C	c.(3022-3024)Tga>Cga	p.*1008R	GRID2_uc011cdu.2_Nonstop_Mutation_p.*913R	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	0					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CACCTCCATATGAGCATCAAA	0.403													25	61					0	0	1	0	0	C	94693647	T	C	94693647	4	2	7	1	0	0	0	0	0	0	0	0	6772	1478	51	3	3084	3	GRID2	4	94693647	Nonstop_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		94693647	96460629	20	169											
ANK2	287	broad.mit.edu	37	chr4	114263046	114263046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaacaagaaaattttgctGaggtggccagaagcagggat	12	6	0	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:114263046G>A	uc003ibe.4	+	32	4196	c.4096G>A	c.(4096-4098)Gag>Aag	p.E1366K	ANK2_uc003ibd.4_Missense_Mutation_p.E1357K|ANK2_uc003ibf.4_Missense_Mutation_p.E1366K|ANK2_uc011cgc.2_Missense_Mutation_p.E542K|ANK2_uc003ibg.4_Missense_Mutation_p.E361K|ANK2_uc003ibh.4_Missense_Mutation_p.E40K|ANK2_uc011cgb.1_Missense_Mutation_p.E1381K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1333					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAATTTTGCTGAGGTGGCCAG	0.373													12	102					0	0	1	0	0	A	114263046	G	A	114263046	3	1	7	1	0	0	0	0	1	0	0	0	621	1291	45	2	4291	2	ANK2	4	114263046	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	19569399	114263046	76891230	21	170											
KIAA0922	23240	broad.mit.edu	37	chr4	154533507	154533507	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagattcacaaaacatcTagagaagacatgttttctga	7	6	3	5			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:154533507T>C	uc010ipp.3	+	25	3574	c.3522T>C	c.(3520-3522)tcT>tcC	p.S1174S	KIAA0922_uc003inm.4_Silent_p.S1173S|KIAA0922_uc010ipq.3_Silent_p.S942S	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1173						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACAAAACATCTAGAGAAGACA	0.343													35	38					0	0	1	0	0	C	154533507	T	C	154533507	2	2	7	1	0	0	0	0	0	0	0	1	8201	1509	53	3		3	KIAA0922	4	154533507	Silent	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	40270461	154533507	36620769	22	171											
ETF1	2107	broad.mit.edu	37	chr5	137844496	137844496	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gctctcgataagctcatgttCctgtccggtctacagggatg	11	11	3	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:137844496C>G	uc003ldc.4	-	9	1258	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	ETF1_uc011cyv.2_Missense_Mutation_p.E351Q|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Missense_Mutation_p.E332Q	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	365					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCTCATGTTCCTGTCCGGTC	0.433													8	161					0	0	1	0	0	G	137844496	C	G	137844496	3	3	7	1	0	0	0	0	1	0	0	0	5268	864	30	4	228	4	ETF1	5	137844496	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		137844496	43070764	23	172											
DBN1	1627	broad.mit.edu	37	chr5	176893800	176893800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gactgctccttcaaccgcctCttggcctcttccgcttctaa	6	17	4	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:176893800C>G	uc003mgx.2	-	8	1032	c.750G>C	c.(748-750)aaG>aaC	p.K250N	DBN1_uc003mgy.2_Missense_Mutation_p.K248N|DBN1_uc010jkn.1_Missense_Mutation_p.K198N|DBN1_uc003mgz.1_Missense_Mutation_p.K185N	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	248					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	p.R250L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			TCAACCGCCTCTTGGCCTCTT	0.602													4	260					0	0	1	0	0	G	176893800	C	G	176893800	3	3	7	1	0	0	0	0	1	0	0	0	4252	912	32	4	1233	4	DBN1	5	176893800	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	39049304	176893800	4021460	24	173											
TRIM52	84851	broad.mit.edu	37	chr5	180687578	180687578	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacacctctcgaatggagccGtcccatccatccatggcccc	7	18	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:180687578G>C	uc003mnp.3	-	0	542	c.237C>G	c.(235-237)gaC>gaG	p.D79E	BC016291_uc003mnq.3_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.	79	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GAATGGAGCCGTCCCATCCAT	0.552													4	199					0	0	1	0	0	C	180687578	G	C	180687578	3	2	7	1	0	0	0	0	1	0	0	0	16524	1136	40	4	664	4	TRIM52	5	180687578	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	3793778	180687578	227682	25	174											
MDC1	9656	broad.mit.edu	37	chr6	30681830	30681830	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaaggctcccacagtctcgGaggataggtgccttgtccca	11	12	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr6:30681830G>A	uc003nrg.4	-	2	707	c.267C>T	c.(265-267)ctC>ctT	p.L89L	MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Silent_p.L89L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	89	FHA.|Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.I88F(1)		breast(2)|kidney(1)|ovary(1)	4						CACAGTCTCGGAGGATAGGTG	0.517								Other conserved DNA damage response genes					4	98					0	0	1	0	0	A	30681830	G	A	30681830	2	1	7	1	0	0	0	0	0	0	0	1	9403	1161	41	2		2	MDC1	6	30681830	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		30681830	140433237	26	175											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	63					0	0	1	0	0	T	140453136	A	T	140453136	3	4	7	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08		140453136	18685527	27	176											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37720621	37720621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaaatgcagggtccgagGggctgtatttctttggaggg	16	6	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:37720621G>A	uc003xkm.2	-	5	3700	c.3644C>T	c.(3643-3645)cCc>cTc	p.P1215L	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.P581L|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.P544L	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	1215	FIP-RBD.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGGTCCGAGGGGCTGTATTT	0.448													5	134					0	0	1	0	0	A	37720621	G	A	37720621	3	1	7	1	0	0	0	0	1	0	0	0	12893	1232	43	2	211	2	RAB11FIP1	8	37720621	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		37720621	108643401	28	177											
PRKDC	5591	broad.mit.edu	37	chr8	48772221	48772221	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagggtcttgggagctgtatGaatagctctgaactccggtt	13	7	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:48772221G>C	uc003xqi.3	-	46	6212	c.6155C>G	c.(6154-6156)tCa>tGa	p.S2052*	PRKDC_uc003xqj.3_Nonsense_Mutation_p.S2052*	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2053					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.S2052*(1)|p.S2053*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGAGCTGTATGAATAGCTCTG	0.438								Non-homologous end-joining					6	206					0	0	1	0	0	C	48772221	G	C	48772221	4	2	7	1	0	0	0	0	0	1	0	0	12521	1294	45	4	6392	4	PRKDC	8	48772221	Nonsense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	11051600	48772221	97591801	29	178											
RUNX1T1	862	broad.mit.edu	37	chr8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgatggtgcttctcccagtCtttgtgctggcaaaatgagc	12	9	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:92972658C>G	uc022axs.1	-	11	1991	c.1804G>C	c.(1804-1806)Gac>Cac	p.D602H	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D516H|RUNX1T1_uc010mam.3_Missense_Mutation_p.D516H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D506H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D543H|RUNX1T1_uc022axo.1_Missense_Mutation_p.D543H|RUNX1T1_uc010mao.3_Missense_Mutation_p.D516H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D554H|RUNX1T1_uc022axp.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axq.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axr.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axt.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axu.1_Missense_Mutation_p.D523H|RUNX1T1_uc022axv.1_Missense_Mutation_p.D543H|RUNX1T1_uc010man.2_Missense_Mutation_p.D168H|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D506H	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	543					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567													5	51					0	0	1	0	0	G	92972658	C	G	92972658	3	3	7	1	0	0	0	0	1	0	0	0	13747	913	32	4	191	4	RUNX1T1	8	92972658	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	44200437	92972658	53391364	30	179											
ASAP1	50807	broad.mit.edu	37	chr8	131067027	131067027	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaaagacccccttcctttCaggctgtccttcgatgtggc	10	13	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:131067027C>T	uc003yta.2	-	29	3568	c.3340G>A	c.(3340-3342)Gaa>Aaa	p.E1114K	ASAP1_uc003ysz.2_Missense_Mutation_p.E925K|ASAP1_uc011liw.2_Missense_Mutation_p.E1107K	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	1114	SH3.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCCTTCCTTTCAGGCTGTCCT	0.527													6	127					0	0	1	0	0	T	131067027	C	T	131067027	3	4	7	1	0	0	0	0	1	0	0	0	1010	835	29	2	53	2	ASAP1	8	131067027	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	38094369	131067027	15296995	31	180											
FAM135B	51059	broad.mit.edu	37	chr8	139163752	139163752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgaacggaatgggtcAcagtggggcacacagtgcct	16	8	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:139163752A>G	uc003yuy.3	-	12	3137	c.2966T>C	c.(2965-2967)gTg>gCg	p.V989A	FAM135B_uc003yux.3_Missense_Mutation_p.V890A|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.V551A|FAM135B_uc003yvb.3_Missense_Mutation_p.V551A	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	989								p.T988T(1)|p.V989V(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	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)			GGAATGGGTCACAGTGGGGCA	0.493										HNSCC(54;0.14)			41	70					0	0	1	0	0	G	139163752	A	G	139163752	3	3	7	1	0	0	0	0	1	0	0	0	5449	159	6	3	1286	3	FAM135B	8	139163752	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	8096725	139163752	7200270	32	181											
OR1N2	138882	broad.mit.edu	37	chr9	125315950	125315950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggtgtgtgctgggtgCtaaccaactgtcctgccctg	14	11	0	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr9:125315950C>G	uc011lyx.2	+	0	502	c.502C>G	c.(502-504)Cta>Gta	p.L168V		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L168P(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTGCTGGGTGCTAACCAACTG	0.532													17	184					0	0	1	0	0	G	125315950	C	G	125315950	3	3	7	1	0	0	0	0	1	0	0	0	10970	796	28	4	504	4	OR1N2	9	125315950	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		125315950	15897481	33	182											
CHAT	1103	broad.mit.edu	37	chr10	50824648	50824648	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcccagcagtgaggagtcTgtgagtgacttttggagccc	13	10	1	3	rs143723043		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr10:50824648T>G	uc001jhz.2	+	2	540	c.387_splice	c.e2+1	p.S129_splice	CHAT_uc001jhv.1_Splice_Site_p.S11_splice|CHAT_uc001jhx.1_Splice_Site_p.S11_splice|CHAT_uc001jhy.1_Splice_Site_p.S11_splice|CHAT_uc001jia.2_Splice_Site_p.S47_splice|CHAT_uc010qgs.1_Splice_Site_p.S11_splice	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	129					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTGAGGAGTCTGTGAGTGACT	0.567													17	14					0	0	1	0	0	G	50824648	T	G	50824648	5	3	7	1	0	0	0	0	0	0	1	0	3313	1594	55	5	437	5	CHAT	10	50824648	Splice_Site	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		50824648	84710099	34	183											
MUC5B	727897	broad.mit.edu	37	chr11	1264048	1264048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacccacagctaccagcGttacacccatcccctcttcc	3	22	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:1264048G>A	uc001lta.3	+	30	5997	c.5938G>A	c.(5938-5940)Gtt>Att	p.V1980I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1980	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			VTP -> FTA (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTACCAGCGTTACACCCAT	0.632													79	117					0	0	1	0	0	A	1264048	G	A	1264048	3	1	7	1	0	0	0	0	1	0	0	0	9979	1145	40	1	6069	1	MUC5B	11	1264048	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		1264048	133742468	35	184											
OR51V1	283111	broad.mit.edu	37	chr11	5221748	5221748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ataggctggtgcaggcttggCtcagtccatatcacatggag	13	9	2	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:5221748C>G	uc010qyz.2	-	0	183	c.183G>C	c.(181-183)gaG>gaC	p.E61D		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGCTTGGCTCAGTCCATA	0.537													13	72					0	0	1	0	0	G	5221748	C	G	5221748	3	3	7	1	0	0	0	0	1	0	0	0	11107	796	28	4	785	4	OR51V1	11	5221748	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	3957700	5221748	129784768	36	185											
EIF4G2	1982	broad.mit.edu	37	chr11	10822345	10822345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcaggcttttcctggAtaagcggtggattagttttg	13	6	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:10822345A>G	uc009ygf.3	-	15	1883	c.1577T>C	c.(1576-1578)aTc>aCc	p.I526T	EIF4G2_uc001mjb.3_Missense_Mutation_p.I320T|EIF4G2_uc001mjc.3_Missense_Mutation_p.I320T|EIF4G2_uc001mjd.3_Missense_Mutation_p.I488T	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	526					RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTTTTCCTGGATAAGCGGTGG	0.383													48	75					0	0	1	0	0	G	10822345	A	G	10822345	3	3	7	1	0	0	0	0	1	0	0	0	5037	333	12	3	1174	3	EIF4G2	11	10822345	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	5600597	10822345	124184171	37	186											
PATL1	219988	broad.mit.edu	37	chr11	59421541	59421541	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggtctaaacattggggcctGagatctaagaaaaacggaaa	11	7	2	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:59421541G>C	uc001noe.4	-	8	1179	c.1036C>G	c.(1036-1038)Cag>Gag	p.Q346E	PATL1_uc009yms.1_Missense_Mutation_p.Q316E|PATL1_uc010rkw.2_Missense_Mutation_p.Q51E	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	346	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATTGGGGCCTGAGATCTAAGA	0.428													3	116					0	0	1	0	0	C	59421541	G	C	59421541	3	2	7	1	0	0	0	0	1	0	0	0	11475	1299	45	4	1320	4	PATL1	11	59421541	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	48599196	59421541	75584975	38	187											
TMEM109	79073	broad.mit.edu	37	chr11	60689584	60689584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgccaggtggaggagctgCgctggcgccagaggcgagcg	19	11	0	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:60689584C>T	uc001nqg.3	+	3	1057	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	227						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GGAGGAGCTGCGCTGGCGCCA	0.687													5	39					0	0	1	0	0	T	60689584	C	T	60689584	3	4	7	1	0	0	0	0	1	0	0	0	16022	768	27	1	689	1	TMEM109	11	60689584	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	1268043	60689584	74316932	39	188											
ASRGL1	80150	broad.mit.edu	37	chr11	62123836	62123836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaatggtgaggttgaaaTggatgctagtatcatggatg	13	4	1	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:62123836T>C	uc001nte.4	+	2	514	c.230T>C	c.(229-231)aTg>aCg	p.M77T	ASRGL1_uc001ntf.4_Missense_Mutation_p.M77T|ASRGL1_uc001ntg.4_Intron|ASRGL1_uc001nth.1_5'Flank	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	77					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GAGGTTGAAATGGATGCTAGT	0.453													64	95					0	0	1	0	0	C	62123836	T	C	62123836	3	2	7	1	0	0	0	0	1	0	0	0	1060	1464	51	3	236	3	ASRGL1	11	62123836	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	1434252	62123836	72882680	40	189											
A2M	2	broad.mit.edu	37	chr12	9264798	9264798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatccatggagacaacaCgaaatttcactgaaacagaa	6	9	2	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:9264798C>T	uc001qvk.1	-	3	553	c.440G>A	c.(439-441)cGt>cAt	p.R147H	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	147					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGAGACAACACGAAATTTCAC	0.393													13	35					0	0	1	0	0	T	9264798	C	T	9264798	3	4	7	1	0	0	0	0	1	0	0	0	4	536	19	1	4116	1	A2M	12	9264798	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		9264798	124587097	41	190											
PPHLN1	51535	broad.mit.edu	37	chr12	42836501	42836501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaacactgaaatggatcaCgacggaacccccgaaaacga	10	11	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:42836501C>T	uc001rng.1	+	10	1188	c.1083C>T	c.(1081-1083)caC>caT	p.H361H	PPHLN1_uc010skr.1_Silent_p.H306H|PPHLN1_uc010sks.1_Silent_p.H287H|PPHLN1_uc010skt.1_Silent_p.H241H|PPHLN1_uc001rni.1_Silent_p.H306H|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	361					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		aaatggatcacgacggaaccc	0.552													22	279					0	0	1	0	0	T	42836501	C	T	42836501	2	4	7	1	0	0	0	0	0	0	0	1	12315	535	19	1		1	PPHLN1	12	42836501	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	33571703	42836501	91015394	42	191											
ESPL1	9700	broad.mit.edu	37	chr12	53680377	53680377	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcagctgctgtactacccAactttttgcaagctcctggg	8	14	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:53680377A>T	uc001sck.2	+	17	3948	c.3857A>T	c.(3856-3858)cAa>cTa	p.Q1286L	ESPL1_uc001scj.2_Missense_Mutation_p.Q961L|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1286					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGTACTACCCAACTTTTTGCA	0.552													7	124					0	0	1	0	0	T	53680377	A	T	53680377	3	4	7	1	0	0	0	0	1	0	0	0	5253	130	5	5	3923	5	ESPL1	12	53680377	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	10843876	53680377	80171518	43	192											
CCT2	10576	broad.mit.edu	37	chr12	69985902	69985902	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaaatgctaaaattcTtattgcaaatactggtatgg	7	4	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:69985902T>G	uc001svb.1	+	7	807	c.713T>G	c.(712-714)cTt>cGt	p.L238R	CCT2_uc010stl.1_Missense_Mutation_p.L191R	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	238					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTAAAATTCTTATTGCAAAT	0.299													38	56					0	0	1	0	0	G	69985902	T	G	69985902	3	3	7	1	0	0	0	0	1	0	0	0	2953	1609	56	5	743	5	CCT2	12	69985902	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	16305525	69985902	63865993	44	193											
ACAD10	80724	broad.mit.edu	37	chr12	112185090	112185101	+	Splice_Site	DEL	CCCACTCAGGTT	CCCACTCAGGTT	-													tctctgactggaatatgctcCccactcaggttgcctcttca							TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:112185090_112185101delCCCACTCAGGTT	uc009zvx.3	+	17	2688	c.2488_splice	c.e17-1	p.V830_splice	ACAD10_uc001tsp.3_Splice_Site_p.V799_splice|ACAD10_uc001tsq.3_Splice_Site_p.V799_splice|ACAD10_uc001tss.1_Splice_Site	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	799							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GAATATGCTCCCCACTCAGGTTGCCTCTTCAG	0.561													34	56	---	---	---	---						-	112185101	CCCACTCAGGTT	-	112185090	8	5	7	1	0	1	0	1	0	0	1	0	108	638	22	0		0	ACAD10	12	112185090	Splice_Site	DEL	CCCACTCAGGTT	TCGA-BJ-A0ZB-01A-11D-A10S-08	42199188	112185090	21666805	45	194											
CIT	11113	broad.mit.edu	37	chr12	120241044	120241044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccccagtgccttgctgtAcgaaaaccccacaaacggca	7	15	0	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:120241044A>G	uc001txj.2	-	9	1317	c.1261T>C	c.(1261-1263)Tac>Cac	p.Y421H	CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Missense_Mutation_p.Y421H	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	421	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCCTTGCTGTACGAAAACCCC	0.488													3	101					0	0	1	0	0	G	120241044	A	G	120241044	3	3	7	1	0	0	0	0	1	0	0	0	3438	391	14	3	4974	3	CIT	12	120241044	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	8055954	120241044	13610851	46	195											
LCTL	197021	broad.mit.edu	37	chr15	66842425	66842425	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagcaagtttccaaagctttGaggtaccaactttccaccta	7	11	0	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:66842425G>C	uc002aqc.3	-	11	1674	c.1542C>G	c.(1540-1542)ctC>ctG	p.L514L	LCTL_uc002aqd.4_Silent_p.L341L|LCTL_uc010bhw.3_Intron	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	514					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAAAGCTTTGAGGTACCAAC	0.308													3	61					0	0	1	0	0	C	66842425	G	C	66842425	2	2	7	1	0	0	0	0	0	0	0	1	8694	1277	45	4		4	LCTL	15	66842425	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		66842425	35688967	47	196											
BNC1	646	broad.mit.edu	37	chr15	83932102	83932102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtctgctcagtctccCtctctgaattgtgtgtggcc	11	12	4	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:83932102C>T	uc002bjt.1	-	3	1989	c.1901G>A	c.(1900-1902)aGg>aAg	p.R634K	BNC1_uc010uos.1_Missense_Mutation_p.R622K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	634					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTCAGTCTCCCTCTCTGAATT	0.552													5	175					0	0	1	0	0	T	83932102	C	T	83932102	3	4	7	1	0	0	0	0	1	0	0	0	1474	681	24	2	1091	2	BNC1	15	83932102	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	17089677	83932102	18599290	48	197											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84582013	84582013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggccctgcctcctggaaGcatgtgatgagagcccggcc	13	14	0	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:84582013G>A	uc002bjz.4	+	15	2094	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.A624T	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	624	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCCTGGAAGCATGTGATGA	0.617													25	32					0	0	1	0	0	A	84582013	G	A	84582013	3	1	7	1	0	0	0	0	1	0	0	0	276	971	34	2	1928	2	ADAMTSL3	15	84582013	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	649911	84582013	17949379	49	198											
WDR73	84942	broad.mit.edu	37	chr15	85189404	85189404	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaagcaagggacaaagTaccacggtacctgaggtgta	13	9	0	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:85189404T>C	uc010upa.1	-	5	544	c.528A>G	c.(526-528)gtA>gtG	p.V176V	WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkw.2_Intron|WDR73_uc002bkx.2_Intron|AL357213_uc002bky.1_3'UTR			Q6P4I2	WDR73_HUMAN	Homo sapiens WD repeat domain 73 (WDR73), mRNA.	0										cervix(1)|large_intestine(1)|lung(1)	3						AGGGACAAAGTACCACGGTAC	0.582													7	20					0	0	1	0	0	C	85189404	T	C	85189404	2	2	7	1	0	0	0	0	0	0	0	1	17320	1653	57	3		3	WDR73	15	85189404	Silent	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	607391	85189404	17341988	50	199											
ITGAL	3683	broad.mit.edu	37	chr16	30521697	30521697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccccatagccagataCctgtgagctgcgaggagctt	11	14	0	2			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:30521697C>T	uc002dyi.4	+	21	2700	c.2524C>T	c.(2524-2526)Cct>Tct	p.P842S	ITGAL_uc002dyj.4_Missense_Mutation_p.P758S|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	842					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TAGCCAGATACCTGTGAGCTG	0.557													78	134					0	0	1	0	0	T	30521697	C	T	30521697	3	4	7	1	0	0	0	0	1	0	0	0	7886	507	18	2	2610	2	ITGAL	16	30521697	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		30521697	59833056	51	200											
ITGAD	3681	broad.mit.edu	37	chr16	31435803	31435803	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcagatggagatggtgctaGaagaagacgaggtctacaat	13	5	2	5			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:31435803G>C	uc010cap.1	+	28	3329	c.3280G>C	c.(3280-3282)Gaa>Caa	p.E1094Q	ITGAD_uc002ebv.1_Missense_Mutation_p.E1093Q	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	1093					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.E1094K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATGGTGCTAGAAGAAGACGA	0.542													6	105					0	0	1	0	0	C	31435803	G	C	31435803	3	2	7	1	0	0	0	0	1	0	0	0	7884	943	33	4	3391	4	ITGAD	16	31435803	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	914106	31435803	58918950	52	201											
ADAMTS18	170692	broad.mit.edu	37	chr16	77389861	77389861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttcttgagatactggCggctgcaggaagaccatgaa	13	7	1	3			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:77389861C>T	uc002ffc.4	-	8	1855	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	479	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R479H(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGATACTGGCGGCTGCAGGA	0.488													46	58					0	0	1	0	0	T	77389861	C	T	77389861	3	4	7	1	0	0	0	0	1	0	0	0	263	768	27	1	2289	1	ADAMTS18	16	77389861	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	45954058	77389861	12964892	53	202											
C17orf74	201243	broad.mit.edu	37	chr17	7330441	7330441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggctacagctcccaggaCccccgtgaggtgcggcgtcg	15	14	0	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr17:7330441C>T	uc002ggw.3	+	2	1204	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	377						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCTCCCAGGACCCCCGTGAGG	0.682													10	27					0	0	1	0	0	T	7330441	C	T	7330441	2	4	7	1	0	0	0	0	0	0	0	1	1879	506	18	2		2	C17orf74	17	7330441	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		7330441	73864769	54	203											
TK1	7083	broad.mit.edu	37	chr17	76170913	76170913	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccacggcttcccctggcTttcctggcactgggcagttc	11	16	0	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr17:76170913T>G	uc002juw.2	-	6	842	c.632A>C	c.(631-633)aAg>aCg	p.K211T		NM_003258	NP_003249	P04183	KITH_HUMAN	Homo sapiens thymidine kinase 1, soluble (TK1), mRNA.	211					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			TTCCCCTGGCTTTCCTGGCAC	0.632													8	11					0	0	1	0	0	G	76170913	T	G	76170913	3	3	7	1	0	0	0	0	1	0	0	0	15929	1609	56	5	76	5	TK1	17	76170913	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	68840472	76170913	5024297	55	204											
DNASE2	1777	broad.mit.edu	37	chr19	12991901	12991901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctctcgtccagatacttgTactgcagccctctctgcgcc	8	16	2	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:12991901T>C	uc002mvn.1	-	1	298	c.152A>G	c.(151-153)tAc>tGc	p.Y51C	DNASE2_uc010xmr.1_Missense_Mutation_p.Y51C	NM_001375	NP_001366	O00115	DNS2A_HUMAN	Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.	51					apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAGATACTTGTACTGCAGCCC	0.647													29	55					0	0	1	0	0	C	12991901	T	C	12991901	3	2	7	1	0	0	0	0	1	0	0	0	4664	1638	57	3	950	3	DNASE2	19	12991901	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		12991901	46137082	56	205											
EPS15L1	58513	broad.mit.edu	37	chr19	16548625	16548625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagattgctcaaggtaaCttcatggccactctgtgcac	8	11	4	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:16548625C>T	uc002ndx.3	-	4	271	c.265G>A	c.(265-267)Gtt>Att	p.V89I	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_5'Flank|EPS15L1_uc002ndz.1_Missense_Mutation_p.V89I|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Missense_Mutation_p.V89I|EPS15L1_uc010eah.1_Missense_Mutation_p.V89I|EPS15L1_uc002neb.1_5'Flank|EPS15L1_uc002nec.1_Missense_Mutation_p.V89I	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	89	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTCAAGGTAACTTCATGGCCA	0.468													7	53					0	0	1	0	0	T	16548625	C	T	16548625	3	4	7	1	0	0	0	0	1	0	0	0	5193	565	20	2	2405	2	EPS15L1	19	16548625	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	3556724	16548625	42580358	57	206											
KIR2DL1	3802	broad.mit.edu	37	chr19	55286820	55286820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctgggccctgccaccCacggagggacctacagatgc	11	16	1	1			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:55286820C>A	uc010erz.1	+	3	612	c.574C>A	c.(574-576)Cac>Aac	p.H192N	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.H192N	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	192	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CCCTGCCACCCACGGAGGGAC	0.567													8	148					0	0	1	0	0	A	55286820	C	A	55286820	3	1	7	1	0	0	0	0	1	0	0	0	8316	594	21	4	588	4	KIR2DL1	19	55286820	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	38738195	55286820	3842163	58	207											
ARHGAP6	395	broad.mit.edu	37	chrX	11200233	11200233	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaatatccccactgtctGgaggcctgcaaataagcaaa	9	11	1	0			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chrX:11200233G>A	uc004cup.1	-	5	2152	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Nonsense_Mutation_p.Q427*|ARHGAP6_uc004cum.1_Nonsense_Mutation_p.Q224*|ARHGAP6_uc004cun.1_Nonsense_Mutation_p.Q247*|ARHGAP6_uc010neb.1_Nonsense_Mutation_p.Q249*|ARHGAP6_uc011mif.1_Nonsense_Mutation_p.Q224*	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	427	Rho-GAP.				Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCACTGTCTGGAGGCCTGCA	0.398													6	165					0	0	1	0	0	A	11200233	G	A	11200233	4	1	7	1	0	0	0	0	0	1	0	0	887	1357	47	2	1799	2	ARHGAP6	23	11200233	Nonsense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		11200233	144070327	59	208											
TEX11	56159	broad.mit.edu	37	chrX	70053437	70053438	+	Frame_Shift_Ins	INS	-	-	AACT													ctttgaaaatccccttgagcINSaactgcctgaaaaagataaa							TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chrX:70053437_70053438insAACT	uc004dyl.3	-	8	738_739	c.576_577insAGTT	c.(574-579)gttgctfs	p.V192fs	TEX11_uc004dym.3_Frame_Shift_Ins_p.V177fs	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	192							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCCCTTGAGCAACTGCCTGAA	0.356													23	11	---	---	---	---						AACT	70053438	-	AACT	70053437	7	5	7	1	0	1	1	0	0	0	0	0	15771	710	25	0	2337	0	TEX11	23	70053437	Frame_Shift_Ins	INS	-	TCGA-BJ-A0ZB-01A-11D-A10S-08	58853204	70053437	85217123	60	209											
AMIGO1	57463	broad.mit.edu	37	chr1	110050830	110050830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgccgatactgccaGtgtgaaaacagctggtagag	12	10	1	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr1:110050830G>A	uc001dxx.4	-	1	1087	c.705C>T	c.(703-705)caC>caT	p.H235H	AMIGO1_uc021org.1_Silent_p.H235H	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	235	LRRCT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATACTGCCAGTGTGAAAACA	0.517													3	83					0	0	1	0	0	A	110050830	G	A	110050830	2	1	8	1	0	0	0	0	0	0	0	1	575	1020	36	2		2	AMIGO1	1	110050830	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		110050830	139199791	1	210											
RC3H1	149041	broad.mit.edu	37	chr1	173934152	173934152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagggagatccactgcacCttcatctggaaggatagctg	12	10	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr1:173934152C>T	uc010pmt.2	-	8	1528	c.1441G>A	c.(1441-1443)Ggt>Agt	p.G481S	RC3H1_uc001gju.4_Missense_Mutation_p.G481S|RC3H1_uc010pms.2_Missense_Mutation_p.G481S|RC3H1_uc001gjv.3_Missense_Mutation_p.G481S	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	481					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCCACTGCACCTTCATCTGGA	0.498													3	121					0	0	1	0	0	T	173934152	C	T	173934152	3	4	8	1	0	0	0	0	1	0	0	0	13166	681	24	2	2004	2	RC3H1	1	173934152	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08	63883322	173934152	75316469	2	211											
NPR3	4883	broad.mit.edu	37	chr5	32774825	32774825	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcaggttaacatgttTgttgaaggattccacgatgc	9	7	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr5:32774825T>C	uc003jhv.3	+	3	1516	c.1071T>C	c.(1069-1071)ttT>ttC	p.F357F	NPR3_uc010iuo.3_Silent_p.F141F|NPR3_uc003jhw.2_Silent_p.F141F|NPR3_uc003jhu.3_Silent_p.F357F	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	357					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTAACATGTTTGTTGAAGGAT	0.433													6	282					0	0	1	0	0	C	32774825	T	C	32774825	2	2	8	1	0	0	0	0	0	0	0	1	10596	1809	63	3		3	NPR3	5	32774825	Silent	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08		32774825	148140435	3	212											
RNF14	9604	broad.mit.edu	37	chr5	141364442	141364442	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggatttgcatgggttctctCtctagagcaaacccttacaa	8	10	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr5:141364442C>G	uc003llz.3	+	7	1559	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	RNF14_uc003lly.3_Silent_p.L437L|RNF14_uc003lma.3_Silent_p.L437L|RNF14_uc003lmb.3_Silent_p.L311L|RNF14_uc003lmc.3_Silent_p.L437L|RNF14_uc011dbg.2_Silent_p.L261L|RNF14_uc011dbh.2_Silent_p.L134L|RNF14_uc003lmd.3_Silent_p.L437L	NM_001201365	NP_001188294	Q9UBS8	RNF14_HUMAN	Homo sapiens ring finger protein 14 (RNF14), transcript variant 6, mRNA.	437	Interaction with androgen receptor.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGGGTTCTCTCTCTAGAGCAA	0.403													4	229					0	0	1	0	0	G	141364442	C	G	141364442	2	3	8	1	0	0	0	0	0	0	0	1	13443	900	32	4		4	RNF14	5	141364442	Silent	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08	108589617	141364442	39550818	4	213											
FOXQ1	94234	broad.mit.edu	37	chr6	1313344	1313344	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatggccatccgcgactcGgcgggcgggcgcttgacgct	16	15	0	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr6:1313344G>T	uc003mtl.4	+	0	670	c.405G>T	c.(403-405)tcG>tcT	p.S135S		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	135					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	p.S135L(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCCGCGACTCGGCGGGCGGGC	0.687													3	18					0	0	1	0	0	T	1313344	G	T	1313344	2	4	8	1	0	0	0	0	0	0	0	1	6030	1103	39	4		4	FOXQ1	6	1313344	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		1313344	169801723	5	214											
HIST1H4L	8368	broad.mit.edu	37	chr6	27841025	27841025	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcgcttgagcgcgtaAaccacgtccatggctgtgac	12	14	0	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr6:27841025A>T	uc003njz.3	-	0	265	c.264T>A	c.(262-264)gtT>gtA	p.V88V	HIST1H3I_uc003njy.3_5'Flank	NM_003546	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4l (HIST1H4L), mRNA.	88					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAGCGCGTAAACCACGTCCA	0.542													36	48					0	0	1	0	0	T	27841025	A	T	27841025	2	4	8	1	0	0	0	0	0	0	0	1	7176	1	1	5		5	HIST1H4L	6	27841025	Silent	SNP	A	TCGA-BJ-A0ZC-01A-12D-A13W-08	26527681	27841025	143274042	6	215											
PLEKHA8	84725	broad.mit.edu	37	chr7	30118255	30118255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattttgtggccgcgttaaCcgtaaaggaaggtgaccacc	12	9	0	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr7:30118255C>T	uc003taq.3	+	13	1814	c.1412C>T	c.(1411-1413)aCc>aTc	p.T471I	PLEKHA8_uc022aba.1_Intron|PLEKHA8_uc003tan.3_Intron	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	471					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GCCGCGTTAACCGTAAAGGAA	0.488													4	87					0	0	1	0	0	T	30118255	C	T	30118255	3	4	8	1	0	0	0	0	1	0	0	0	12062	522	18	2		2	PLEKHA8	7	30118255	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		30118255	129020408	7	216											
RBPMS	11030	broad.mit.edu	37	chr8	30361916	30361916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccccagtactcctctGcccaacactgtacctcagtt	4	18	2	0			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr8:30361916G>A	uc011lba.1	+	4	1025	c.360G>A	c.(358-360)ctG>ctA	p.L120L	RBPMS_uc003xic.1_Silent_p.L120L|RBPMS_uc003xid.1_Silent_p.L120L|RBPMS_uc003xie.1_Silent_p.L120L|RBPMS_uc003xif.1_Non-coding_Transcript|RBPMS_uc003xib.3_Silent_p.L120L|RBPMS_uc010lvh.1_Silent_p.L16L	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	Homo sapiens RNA binding protein with multiple splicing (RBPMS), transcript variant 4, mRNA.	120					RNA processing|positive regulation of SMAD protein import into nucleus|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GTACTCCTCTGCCCAACACTG	0.433													12	131					0	0	1	0	0	A	30361916	G	A	30361916	2	1	8	1	0	0	0	0	0	0	0	1	13163	1306	46	2		2	RBPMS	8	30361916	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		30361916	116002106	8	217											
RALYL	138046	broad.mit.edu	37	chr8	85785580	85785580	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagatcaaaactaaaattgaCtccttgctagggcgcctgga	9	10	1	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr8:85785580C>G	uc003yct.4	+	6	806	c.672C>G	c.(670-672)gaC>gaG	p.D224E	RALYL_uc003ycq.4_Missense_Mutation_p.D211E|RALYL_uc003ycr.4_Missense_Mutation_p.D211E|RALYL_uc003ycs.4_Missense_Mutation_p.D211E|RALYL_uc010lzy.3_Missense_Mutation_p.D200E|RALYL_uc003ycu.4_Missense_Mutation_p.D138E	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	211							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTAAAATTGACTCCTTGCTAG	0.428													2	14					0	0	1	0	0	G	85785580	C	G	85785580	3	3	8	1	0	0	0	0	1	0	0	0	13020	564	20	4	698	4	RALYL	8	85785580	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08	55423664	85785580	60578442	9	218											
ALAD	210	broad.mit.edu	37	chr9	116151734	116151734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttgtcctttacctccCgcacgatgtccaggtagggc	9	15	1	0			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr9:116151734C>A	uc004bhl.4	-	9	1153	c.872G>T	c.(871-873)cGg>cTg	p.R291L	ALAD_uc011lxe.2_Missense_Mutation_p.R245L|ALAD_uc011lxf.2_Missense_Mutation_p.R262L			P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	262					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CTTTACCTCCCGCACGATGTC	0.567													3	77					0	0	1	0	0	A	116151734	C	A	116151734	3	1	8	1	0	0	0	0	1	0	0	0	483	652	23	4	219	4	ALAD	9	116151734	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		116151734	25061697	10	219											
PHF21A	51317	broad.mit.edu	37	chr11	45959840	45959840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactttttctgcaaacgctGcaaaaatcctcatgaatatc	4	12	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr11:45959840G>A	uc001ncc.4	-	14	2097	c.1473C>T	c.(1471-1473)tgC>tgT	p.C491C	PHF21A_uc001ncb.4_Silent_p.C445C|PHF21A_uc009ykx.3_Silent_p.C445C|PHF21A_uc001nca.1_Silent_p.C227C	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	491	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGCAAACGCTGCAAAAATCCT	0.393													4	94					0	0	1	0	0	A	45959840	G	A	45959840	2	1	8	1	0	0	0	0	0	0	0	1	11833	1311	46	2		2	PHF21A	11	45959840	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		45959840	89046676	11	220											
DDX51	317781	broad.mit.edu	37	chr12	132626093	132626093	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tggggtctggtcgatgtggtCcaccaggcggccgggggtgg	21	9	1	0			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr12:132626093C>G	uc001ujy.4	-	6	1093	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	352	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCGATGTGGTCCACCAGGCGG	0.647													3	38					0	0	1	0	0	G	132626093	C	G	132626093	3	3	8	1	0	0	0	0	1	0	0	0	4369	855	30	4	982	4	DDX51	12	132626093	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		132626093	1225802	12	221											
AP4S1	11154	broad.mit.edu	37	chr14	31553973	31553973	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaattaaggtgttttttttAggaaccaattgatgaacttc	8	4	0	3			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr14:31553973A>T	uc001wqw.4	+	6	756	c.367_splice	c.e6-2	p.E123_splice	AP4S1_uc021rry.1_Intron|AP4S1_uc001wqx.4_Splice_Site|AP4S1_uc010amh.3_Splice_Site_p.E99_splice|AP4S1_uc001wqy.4_Intron|AP4S1_uc021rrz.1_Intron	NM_007077	NP_009008	Q9Y587	AP4S1_HUMAN	Homo sapiens adaptor-related protein complex 4, sigma 1 subunit (AP4S1), transcript variant 1, mRNA.	21						Golgi apparatus|coated pit	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		TGTTTTTTTTAGGAACCAATT	0.413													4	133					0	0	1	0	0	T	31553973	A	T	31553973	5	4	8	1	0	0	0	0	0	0	1	0	754	434	15	5	383	5	AP4S1	14	31553973	Splice_Site	SNP	A	TCGA-BJ-A0ZC-01A-12D-A13W-08		31553973	75795567	13	222											
SMOC1	64093	broad.mit.edu	37	chr14	70477484	70477484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagagaaagtctattcGtgtgaccaggagaggcagag	14	7	1	4			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr14:70477484G>A	uc001xlt.2	+	7	960	c.678G>A	c.(676-678)tcG>tcA	p.S226S	SMOC1_uc001xls.2_Silent_p.S226S	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	226	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAGTCTATTCGTGTGACCAGG	0.527													4	122					0	0	1	0	0	A	70477484	G	A	70477484	2	1	8	1	0	0	0	0	0	0	0	1	14801	1132	40	1		1	SMOC1	14	70477484	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08	38923511	70477484	36872056	14	223											
PIK3R5	23533	broad.mit.edu	37	chr17	8808196	8808196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaggtgctggctgcctTcagaaggagatccgagtctg	16	8	2	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr17:8808196T>C	uc002glt.3	-	4	377	c.310A>G	c.(310-312)Aag>Gag	p.K104E	PIK3R5_uc010vuz.2_Missense_Mutation_p.K104E|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	104					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGGCTGCCTTCAGAAGGAGA	0.552													27	50					0	0	1	0	0	C	8808196	T	C	8808196	3	2	8	1	0	0	0	0	1	0	0	0	11922	1792	62	3	2392	3	PIK3R5	17	8808196	Missense_Mutation	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08		8808196	72387014	15	224											
TBC1D16	125058	broad.mit.edu	37	chr17	77926612	77926612	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccggcgtcggagctggacGgggggctggtggaacaggtt	22	8	0	0			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr17:77926612G>T	uc002jxj.3	-	3	901	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	TBC1D16_uc002jxh.3_5'Flank|TBC1D16_uc002jxi.3_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	262	Ser-rich.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGAGCTGGACGGGGGGCTGGT	0.657													3	42					0	0	1	0	0	T	77926612	G	T	77926612	3	4	8	1	0	0	0	0	1	0	0	0	15602	1116	39	4	1554	4	TBC1D16	17	77926612	Missense_Mutation	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08	69118416	77926612	3268598	16	225											
APCDD1	147495	broad.mit.edu	37	chr18	10485461	10485461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttcttggcttcagaaCcacgaccatgcctgcatcgc	8	13	2	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr18:10485461C>A	uc002kom.4	+	3	1131	c.777C>A	c.(775-777)aaC>aaA	p.N259K		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	259					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGCTTCAGAACCACGACCATG	0.577													5	134					0	0	1	0	0	A	10485461	C	A	10485461	3	1	8	1	0	0	0	0	1	0	0	0	765	506	18	4	791	4	APCDD1	18	10485461	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		10485461	67591787	17	226											
HIF3A	64344	broad.mit.edu	37	chr19	46811989	46811989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatgaagagtacactcaCcagccgcgggcgcaccctca	11	16	2	2			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr19:46811989C>T	uc002peh.3	+	4	549	c.518C>T	c.(517-519)aCc>aTc	p.T173I	HIF3A_uc002pef.2_Missense_Mutation_p.T173I|HIF3A_uc002peg.4_Missense_Mutation_p.T173I|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.T117I|HIF3A_uc002pej.2_Missense_Mutation_p.T104I|HIF3A_uc010xxy.2_Missense_Mutation_p.T104I|HIF3A_uc002pel.3_Missense_Mutation_p.T171I|HIF3A_uc010xxz.2_Missense_Mutation_p.T122I	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGTACACTCACCAGCCGCGGG	0.716													5	5					0	0	1	0	0	T	46811989	C	T	46811989	3	4	8	1	0	0	0	0	1	0	0	0	7105	507	18	2	560	2	HIF3A	19	46811989	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		46811989	12316994	18	227											
ZHX3	23051	broad.mit.edu	37	chr20	39831621	39831621	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcattttggtttcacttcTcaggcggtccagttcctcat	9	11	4	0			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr20:39831621T>G	uc002xjr.1	-	3	2399	c.1936A>C	c.(1936-1938)Aga>Cga	p.R646R	ZHX3_uc002xjs.1_Silent_p.R646R|ZHX3_uc002xjt.1_Silent_p.R646R|ZHX3_uc002xju.1_Silent_p.R646R|ZHX3_uc002xjv.1_Silent_p.R646R|ZHX3_uc002xjw.1_Silent_p.R646R|ZHX3_uc010ggg.1_Silent_p.R646R	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	646					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GTTTCACTTCTCAGGCGGTCC	0.493													6	254					0	0	1	0	0	G	39831621	T	G	39831621	2	3	8	1	0	0	0	0	0	0	0	1	17674	1559	54	5		5	ZHX3	20	39831621	Silent	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08		39831621	23193899	19	228											
DMD	1756	broad.mit.edu	37	chrX	31854884	31854884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtacaaatgctgccctttaGacaaaatctcttccacatcc	4	13	1	1			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chrX:31854884G>A	uc004dda.1	-	48	7395	c.7151C>T	c.(7150-7152)tCt>tTt	p.S2384F	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.S1040F|DMD_uc004dcx.2_Missense_Mutation_p.S1043F|DMD_uc004dcz.2_Missense_Mutation_p.S2261F|DMD_uc004dcy.1_Missense_Mutation_p.S2380F|DMD_uc004ddb.1_Missense_Mutation_p.S2376F|DMD_uc004ddd.1_5'UTR	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2384					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCTTTAGACAAAATCTC	0.408													5	98					0	0	1	0	0	A	31854884	G	A	31854884	3	1	8	1	0	0	0	0	1	0	0	0	4580	942	33	2	4178	2	DMD	23	31854884	Missense_Mutation	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		31854884	123415676	20	229											
SCN9A	6335	broad.mit.edu	37	chr2	167055182	167055182	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatatatcaaaaatgaagctCtattttttgctttccttgct	4	7	2	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:167055182C>G	uc010fpl.3	-	26	6275	c.5934G>C	c.(5932-5934)taG>taC	p.*1978Y	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	0						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAATGAAGCTCTATTTTTTGC	0.318													11	17					0	0	1	0	0	G	167055182	C	G	167055182	4	3	9	1	0	0	0	0	0	0	0	0	13925	924	32	4	3	4	SCN9A	2	167055182	Nonstop_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08		167055182	76144191	1	230											
COL3A1	1281	broad.mit.edu	37	chr2	189853339	189853339	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccaggataccaaggaccCcctggtgaacctgggcaagc	11	14	1	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:189853339C>A	uc002uqj.1	+	6	723	c.606C>A	c.(604-606)ccC>ccA	p.P202P		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	202	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACCAAGGACCCCCTGGTGAAC	0.328													3	84					0	0	1	0	0	A	189853339	C	A	189853339	2	1	9	1	0	0	0	0	0	0	0	1	3688	610	22	4		4	COL3A1	2	189853339	Silent	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	22798157	189853339	53346034	2	231											
MITF	4286	broad.mit.edu	37	chr3	69987187	69987187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttacgcttaactccaActgtgaaaaagaggtaattc	7	8	0	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr3:69987187A>G	uc003dnz.3	+	2	732	c.569A>G	c.(568-570)aAc>aGc	p.N190S	MITF_uc011bgb.2_Missense_Mutation_p.N138S|MITF_uc003doa.3_Missense_Mutation_p.N189S|MITF_uc003dob.3_Missense_Mutation_p.N174S|MITF_uc021xam.1_Intron|MITF_uc003doe.3_Missense_Mutation_p.N83S|MITF_uc003dof.3_Missense_Mutation_p.N83S|MITF_uc021xal.1_Missense_Mutation_p.N83S	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	190					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTAACTCCAACTGTGAAAAA	0.488			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						41	70					0	0	1	0	0	G	69987187	A	G	69987187	3	3	9	1	0	0	0	0	1	0	0	0	9596	43	2	3	781	3	MITF	3	69987187	Missense_Mutation	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08		69987187	128035243	3	232											
MFAP3L	9848	broad.mit.edu	37	chr4	170913279	170913279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaccatgacgatggtgaaGgccaccaggcacacgaccat	12	12	0	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr4:170913279G>A	uc003isp.4	-	2	658	c.480C>T	c.(478-480)gcC>gcT	p.A160A	MFAP3L_uc003isn.4_Silent_p.A57A|MFAP3L_uc021xuj.1_Silent_p.A57A	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	160						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CGATGGTGAAGGCCACCAGGC	0.512													7	159					0	0	1	0	0	A	170913279	G	A	170913279	2	1	9	1	0	0	0	0	0	0	0	1	9516	987	35	2		2	MFAP3L	4	170913279	Silent	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		170913279	20240997	4	233											
ABCF1	23	broad.mit.edu	37	chr6	30553911	30553911	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttttcctcttcctctccagGaaaaacaaacgaaggaagcc	6	12	2	0			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:30553911G>C	uc003nql.3	+	18	1809	c.1714_splice	c.e18-1	p.E572_splice	ABCF1_uc003nqm.3_Splice_Site_p.E534_splice	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	572					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCCTCTCCAGGAAAAACAAAC	0.552													29	40					0	0	1	0	0	C	30553911	G	C	30553911	5	2	9	1	0	0	0	0	0	0	1	0	65	1188	41	4	1784	4	ABCF1	6	30553911	Splice_Site	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		30553911	140561156	5	234											
HLA-DMA	3108	broad.mit.edu	37	chr6	32917464	32917464	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtcagaaggttctggtgtGaagtttaagtaagaaaaggc	13	3	2	3			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:32917464G>A	uc003ocm.2	-	2	662	c.576C>T	c.(574-576)ttC>ttT	p.F192F	HLA-DMA_uc011dqm.1_3'UTR	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	192						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						GTTCTGGTGTGAAGTTTAAGT	0.478													4	102					0	0	1	0	0	A	32917464	G	A	32917464	2	1	9	1	0	0	0	0	0	0	0	1	7198	1281	45	2		2	HLA-DMA	6	32917464	Silent	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08	2363553	32917464	138197603	6	235											
GPT	2875	broad.mit.edu	37	chr8	145731945	145731945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccgagcaggtcttcaAtgaggctcctggcatcagct	11	13	4	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:145731945A>G	uc003zdh.4	+	8	1416	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	MFSD3_uc003zdi.1_5'Flank	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	398					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGGTCTTCAATGAGGCTCCT	0.692													5	9					0	0	1	0	0	G	145731945	A	G	145731945	3	3	9	1	0	0	0	0	1	0	0	0	6737	101	4	3	1227	3	GPT	8	145731945	Missense_Mutation	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08		145731945	632077	7	236											
PTGES	9536	broad.mit.edu	37	chr9	132511009	132511009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggcatcctcggggttgGcaaaggcctgaaatatacca	12	10	1	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr9:132511009G>A	uc004byi.3	-	1	187	c.134C>T	c.(133-135)gCc>gTc	p.A45V	PTGES_uc010myy.3_Non-coding_Transcript	NM_004878	NP_004869	O14684	PTGES_HUMAN	Homo sapiens prostaglandin E synthase (PTGES), mRNA.	45					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CTCGGGGTTGGCAAAGGCCTG	0.592													3	51					0	0	1	0	0	A	132511009	G	A	132511009	3	1	9	1	0	0	0	0	1	0	0	0	12746	1203	42	2	332	2	PTGES	9	132511009	Missense_Mutation	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		132511009	8702422	8	237											
ADM	133	broad.mit.edu	37	chr11	10327267	10327267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagctggtttccgtcgCcctgatgtacctgggttcgc	13	11	0	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:10327267C>T	uc001mil.1	+	1	176	c.20C>T	c.(19-21)gCc>gTc	p.A7V		NM_001124	NP_001115	P35318	ADML_HUMAN	Homo sapiens adrenomedullin (ADM), mRNA.	7					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GTTTCCGTCGCCCTGATGTAC	0.642													43	56					0	0	1	0	0	T	10327267	C	T	10327267	3	4	9	1	0	0	0	0	1	0	0	0	321	739	26	2	22	2	ADM	11	10327267	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08		10327267	124679249	9	238											
MEN1	4221	broad.mit.edu	37	chr11	64575515	64575515	+	Frame_Shift_Del	DEL	G	G	-													gtggacatcccggagacccaGggcctggcaggccccaacca							TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:64575515delG	uc001obj.3	-	2	590	c.517delC	c.(517-519)ctgfs	p.L173fs	MEN1_uc001obk.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obl.3_Frame_Shift_Del_p.L168fs|MEN1_uc001obm.3_Frame_Shift_Del_p.L168fs|MEN1_uc001obn.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obo.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obq.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obr.3_Frame_Shift_Del_p.L173fs	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	173			L -> P (in MEN1).|Missing (in MEN1).		DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	p.D172V(1)|p.A167fs*10(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGGAGACCCAGGGCCTGGCAG	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				21	41	---	---	---	---						-	64575515	G	-	64575515	7	5	9	1	0	1	0	1	0	0	0	0	9472	991	35	0	1362	0	MEN1	11	64575515	Frame_Shift_Del	DEL	G	TCGA-BJ-A0ZE-01A-11D-A10S-08	54248248	64575515	70431001	10	239											
ANKRD42	338699	broad.mit.edu	37	chr11	82959006	82959006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcaaagaactgcagggCcagctggagtatgaacgact	11	10	1	2			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:82959006C>T	uc001ozz.1	+	9	1555	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	ANKRD42_uc010rsv.1_Silent_p.G448G|ANKRD42_uc001paa.3_Silent_p.G448G|ANKRD42_uc001pab.1_Silent_p.G447G	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	378										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACTGCAGGGCCAGCTGGAGT	0.343													3	38					0	0	1	0	0	T	82959006	C	T	82959006	3	4	9	1	0	0	0	0	1	0	0	0	670	739	26	2	1171	2	ANKRD42	11	82959006	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	18383491	82959006	52047510	11	240											
KRAS	3845	broad.mit.edu	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	11	2	2	rs121913240		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:25380276T>C	uc001rgp.1	-	2	363	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_uc001rgq.1_Missense_Mutation_p.Q61R	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(144)|p.Q61R(112)|p.Q61K(32)|p.Q61P(24)|p.Q61E(10)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60G(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			34	76					0	0	1	0	0	C	25380276	T	C	25380276	3	2	9	1	0	0	0	0	1	0	0	0	8438	1812	63	3	520	3	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-BJ-A0ZE-01A-11D-A10S-08		25380276	108471619	12	241											
SPATS2	65244	broad.mit.edu	37	chr12	49890689	49890689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactctattcacaattctcaAcaacccaggaatgctgccaa	4	14	3	0			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:49890689A>G	uc001rud.2	+	7	1589	c.600A>G	c.(598-600)caA>caG	p.Q200Q	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Silent_p.Q200Q|SPATS2_uc001ruf.2_Silent_p.Q200Q	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	200						cytoplasm		p.Q200*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						ACAATTCTCAACAACCCAGGA	0.438													69	94					0	0	1	0	0	G	49890689	A	G	49890689	2	3	9	1	0	0	0	0	0	0	0	1	15018	40	2	3		3	SPATS2	12	49890689	Silent	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08	24510413	49890689	83961206	13	242											
ATP2A2	488	broad.mit.edu	37	chr12	110771021	110771021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagtgaattgtcaccagtAtgatggtctggtagaattag	11	6	2	3			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:110771021A>G	uc001tqk.4	+	9	1783	c.1220A>G	c.(1219-1221)tAt>tGt	p.Y407C	ATP2A2_uc001tql.4_Missense_Mutation_p.Y407C|ATP2A2_uc021rdt.1_Missense_Mutation_p.Y255C	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	407					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGTCACCAGTATGATGGTCTG	0.423													81	126					0	0	1	0	0	G	110771021	A	G	110771021	3	3	9	1	0	0	0	0	1	0	0	0	1137	449	16	3	1258	3	ATP2A2	12	110771021	Missense_Mutation	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08	60880332	110771021	23080874	14	243											
RPUSD1	113000	broad.mit.edu	37	chr16	837367	837367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttaccaatgccaggtaaGccttggtcacgcgccgctcc	10	15	2	0			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:837367G>A	uc002cka.3	-	1	527	c.293C>T	c.(292-294)gCt>gTt	p.A98V	RPUSD1_uc002ckb.3_Missense_Mutation_p.A98V|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	98					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGCCAGGTAAGCCTTGGTCAC	0.657													8	14					0	0	1	0	0	A	837367	G	A	837367	3	1	9	1	0	0	0	0	1	0	0	0	13666	971	34	2	661	2	RPUSD1	16	837367	Missense_Mutation	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		837367	89517386	15	244											
KIAA0895L	653319	broad.mit.edu	37	chr16	67213988	67213988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcagtacttttccagcaCagccgtgggcatgggctcct	11	14	0	0			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:67213988C>T	uc002ert.3	-	1	1361	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Missense_Mutation_p.V176M|EXOC3L1_uc002erv.1_Non-coding_Transcript	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	176								p.V176L(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTTTCCAGCACAGCCGTGGGC	0.582													36	88					0	0	1	0	0	T	67213988	C	T	67213988	3	4	9	1	0	0	0	0	1	0	0	0	8198	478	17	2	913	2	KIAA0895L	16	67213988	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	66376621	67213988	23140765	16	245											
APOBEC3F	200316	broad.mit.edu	37	chr22	39475061	39475061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagggtccctcaaggcccCctttggacgcaaagatcttt	9	13	2	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr22:39475061C>A	uc021wpr.1	+	1	435	c.142C>A	c.(142-144)Cct>Act	p.P48T	APOBEC3F_uc003awx.3_Missense_Mutation_p.P48T|APOBEC3F_uc003awy.3_5'Flank	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	48					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CTCAAGGCCCCCTTTGGACGC	0.507													3	51					0	0	1	0	0	A	39475061	C	A	39475061	3	1	9	1	0	0	0	0	1	0	0	0	793	623	22	4		4	APOBEC3F	22	39475061	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08		39475061	11829505	17	246											
ABCB7	22	broad.mit.edu	37	chrX	74332769	74332769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcatgaccatgccaAcatgtcctcttttctatcag	5	15	3	1			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chrX:74332769A>G	uc004ebz.3	-	2	313	c.288T>C	c.(286-288)tgT>tgC	p.C96C	ABCB7_uc010nlt.3_Silent_p.C95C|ABCB7_uc004eca.3_Silent_p.C95C|ABCB7_uc011mqn.2_Silent_p.C69C|ABCB7_uc010nls.3_Silent_p.C96C	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	95					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GACCATGCCAACATGTCCTCT	0.438													9	244					0	0	1	0	0	G	74332769	A	G	74332769	2	3	9	1	0	0	0	0	0	0	0	1	46	41	2	3		3	ABCB7	23	74332769	Silent	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08		74332769	80937791	18	247											
GOLGA4	2803	broad.mit.edu	37	chr3	37368937	37368937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacctgtcagattttggagCaaaagataaaagagctggat	10	5	1	3			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr3:37368937C>A	uc003cgw.3	+	14	5986	c.5626C>A	c.(5626-5628)Caa>Aaa	p.Q1876K	GOLGA4_uc010hgr.2_Missense_Mutation_p.Q1415K|GOLGA4_uc003cgv.3_Missense_Mutation_p.Q1854K|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.Q1735K	NM_001172713	NP_001166184	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 1, mRNA.	1854	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATTTTGGAGCAAAAGATAAA	0.373													4	98					0	0	1	0	0	A	37368937	C	A	37368937	3	1	10	1	0	0	0	0	1	0	0	0	6555	711	25	4	5684	4	GOLGA4	3	37368937	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		37368937	160653493	1	248											
TTC14	151613	broad.mit.edu	37	chr3	180324339	180324339	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cattagaaaactgtccaactCacagaaatgcaagaaaatac	5	9	1	3			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr3:180324339C>G	uc003fkk.3	+	8	1252	c.1120C>G	c.(1120-1122)Cac>Gac	p.H374D	TTC14_uc003fkl.3_Missense_Mutation_p.H374D|TTC14_uc003fkm.2_Missense_Mutation_p.H374D	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	374							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGTCCAACTCACAGAAATGC	0.383													4	196					0	0	1	0	0	G	180324339	C	G	180324339	3	3	10	1	0	0	0	0	1	0	0	0	16678	826	29	4	1154	4	TTC14	3	180324339	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	142955402	180324339	17698091	2	249											
CPE	1363	broad.mit.edu	37	chr4	166403472	166403472	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgccaatctccatggaggaGaccttgtggccaattatcca	9	12	1	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr4:166403472G>A	uc003irg.4	+	3	1028	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	251					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCATGGAGGAGACCTTGTGGC	0.403													4	151					0	0	1	0	0	A	166403472	G	A	166403472	3	1	10	1	0	0	0	0	1	0	0	0	3799	942	33	2	765	2	CPE	4	166403472	Missense_Mutation	SNP	G	TCGA-BJ-A0ZG-01A-11D-A10S-08		166403472	24750804	3	250											
MICAL1	64780	broad.mit.edu	37	chr6	109769507	109769507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggcctgtgcagacaccAccggtgtgatgcccagctca	11	16	1	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr6:109769507A>G	uc011eaq.2	-	12	2102	c.1811T>C	c.(1810-1812)gTg>gCg	p.V604A	MICAL1_uc003ptj.3_Missense_Mutation_p.V585A|MICAL1_uc003ptk.3_Missense_Mutation_p.V585A|MICAL1_uc010kdr.3_Missense_Mutation_p.V499A	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	585	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGCAGACACCACCGGTGTGAT	0.607													7	392					0	0	1	0	0	G	109769507	A	G	109769507	3	3	10	1	0	0	0	0	1	0	0	0	9569	159	6	3	1501	3	MICAL1	6	109769507	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		109769507	61345560	4	251											
GNGT1	2792	broad.mit.edu	37	chr7	93540201	93540201	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggacaaaaatcccttcaagGagctcaaaggaggctgtgtg	12	8	2	0			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr7:93540201G>C	uc003unc.1	+	2	344	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	GNGT1_uc003umx.1_Non-coding_Transcript	NM_021955	NP_068774	P63211	GBG1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 (GNGT1), mRNA.	66					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.K65K(1)|p.E66D(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TCCCTTCAAGGAGCTCAAAGG	0.348													5	84					0	0	1	0	0	C	93540201	G	C	93540201	3	2	10	1	0	0	0	0	1	0	0	0	6533	1175	41	4	202	4	GNGT1	7	93540201	Missense_Mutation	SNP	G	TCGA-BJ-A0ZG-01A-11D-A10S-08		93540201	65598462	5	252											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998408	8998408	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcaaaggatattcccaAatccggtccactgtggggct	11	11	1	0			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr8:8998408A>T	uc003wsn.4	-	1	919	c.754T>A	c.(754-756)Ttg>Atg	p.L252M	PPP1R3B_uc003wso.4_Missense_Mutation_p.L252M|PPP1R3B_uc022arp.1_Missense_Mutation_p.L252M	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	252					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GATATTCCCAAATCCGGTCCA	0.498													14	90					0	0	1	0	0	T	8998408	A	T	8998408	3	4	10	1	0	0	0	0	1	0	0	0	12372	11	1	5	107	5	PPP1R3B	8	8998408	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		8998408	137365614	6	253											
SMUG1	23583	broad.mit.edu	37	chr12	54576295	54576295	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccactcacttctgacTgtgggcactccagtcccagc	10	16	2	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr12:54576295T>A	uc001sfg.2	-	3	545	c.398A>T	c.(397-399)cAg>cTg	p.Q133L	SMUG1_uc001sfa.1_5'Flank|SMUG1_uc009znf.2_Missense_Mutation_p.Q133L|SMUG1_uc001sff.2_Missense_Mutation_p.Q133L|SMUG1_uc001sfc.4_Missense_Mutation_p.Q133L|SMUG1_uc001sfb.4_Missense_Mutation_p.Q133L|SMUG1_uc001sfd.4_Missense_Mutation_p.Q133L|SMUG1_uc021qyn.1_Missense_Mutation_p.Q133L|SMUG1_uc001sfe.2_3'UTR	NM_001243787	NP_001230716	Q53HV7	SMUG1_HUMAN	Homo sapiens single-strand-selective monofunctional uracil-DNA glycosylase 1 (SMUG1), transcript variant 2, mRNA.	133				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CACTTCTGACTGTGGGCACTC	0.562								Base excision repair (BER), DNA glycosylases					20	313					0	0	1	0	0	A	54576295	T	A	54576295	3	1	10	1	0	0	0	0	1	0	0	0	14818	1580	55	5	418	5	SMUG1	12	54576295	Missense_Mutation	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		54576295	79275600	7	254											
ANO4	121601	broad.mit.edu	37	chr12	101520843	101520843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcacaccacaacgagtggCcgtgaccatgtaggtgagag	13	10	0	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr12:101520843C>T	uc010svm.1	+	26	3435	c.2863C>T	c.(2863-2865)Ccg>Tcg	p.P955S	ANO4_uc001thw.2_Missense_Mutation_p.P920S|ANO4_uc001thx.2_Missense_Mutation_p.P955S|ANO4_uc001thy.2_Missense_Mutation_p.P475S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	955						chloride channel complex	chloride channel activity	p.P920S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAACGAGTGGCCGTGACCATG	0.488										HNSCC(74;0.22)			3	46					0	0	1	0	0	T	101520843	C	T	101520843	3	4	10	1	0	0	0	0	1	0	0	0	699	739	26	2	2856	2	ANO4	12	101520843	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	46944548	101520843	32331052	8	255											
TRMT5	57570	broad.mit.edu	37	chr14	61442344	61442344	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctccagccctttgccgAacatcctcagcagggttagc	9	15	1	0			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr14:61442344A>C	uc001xff.4	-	3	1384	c.1293T>G	c.(1291-1293)gtT>gtG	p.V431V		NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.	431						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CCCTTTGCCGAACATCCTCAG	0.483													8	148					0	0	1	0	0	C	61442344	A	C	61442344	2	2	10	1	0	0	0	0	0	0	0	1	16564	233	9	5		5	TRMT5	14	61442344	Silent	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		61442344	45907196	9	256											
MYO5C	55930	broad.mit.edu	37	chr15	52486124	52486124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctattcagaaagcctagcTtgaaactgctggggatctga	10	9	2	3			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr15:52486124T>C	uc010bff.3	-	40	5366	c.5204A>G	c.(5203-5205)aAg>aGg	p.K1735R	GNB5_uc002abt.1_5'Flank|MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1735						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AAAGCCTAGCTTGAAACTGCT	0.383													21	221					0	0	1	0	0	C	52486124	T	C	52486124	3	2	10	1	0	0	0	0	1	0	0	0	10080	1609	56	3	28	3	MYO5C	15	52486124	Missense_Mutation	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		52486124	50045268	10	257											
CHD9	80205	broad.mit.edu	37	chr16	53243396	53243396	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttttgtttctgtagccTccatcttccaagaagagcga	7	9	2	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr16:53243396T>C	uc002ehb.3	+	1	1619	c.1455T>C	c.(1453-1455)ccT>ccC	p.P485P	CHD9_uc002egy.3_Silent_p.P485P|CHD9_uc002egz.1_Silent_p.P485P|CHD9_uc002ehc.3_Silent_p.P485P|CHD9_uc002ehd.2_Silent_p.P11P	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	485					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTCTGTAGCCTCCATCTTCCA	0.343													3	33					0	0	1	0	0	C	53243396	T	C	53243396	2	2	10	1	0	0	0	0	0	0	0	1	3332	1538	54	3		3	CHD9	16	53243396	Silent	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		53243396	37111357	11	258											
CLIP3	25999	broad.mit.edu	37	chr19	36509847	36509847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacgggagaagtccatcCggggggtccggggtgtggag	20	8	0	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr19:36509847C>T	uc010eeq.2	-	7	1450	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.R379Q	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	379					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAGTCCATCCGGGGGGTCCG	0.612													19	135					0	0	1	0	0	T	36509847	C	T	36509847	3	4	10	1	0	0	0	0	1	0	0	0	3534	652	23	1	531	1	CLIP3	19	36509847	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		36509847	22619136	12	259											
ZNF790	388536	broad.mit.edu	37	chr19	37309574	37309574	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatccataaggttctgcatCagtatgaattttcttatgtc	7	8	3	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr19:37309574C>T	uc021utk.1	-	4	2101	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.D558N|ZNF790_uc021utl.1_Missense_Mutation_p.D558N|ZNF790_uc021utm.1_Missense_Mutation_p.D558N	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGTTCTGCATCAGTATGAATT	0.358													8	239					0	0	1	0	0	T	37309574	C	T	37309574	3	4	10	1	0	0	0	0	1	0	0	0	18159	826	29	2	242	2	ZNF790	19	37309574	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	799727	37309574	21819409	13	260											
LAMA5	3911	broad.mit.edu	37	chr20	60910087	60910087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcactcactgcggcagccAaaatagtcagcctgatccag	11	13	2	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr20:60910087A>C	uc002ycq.3	-	19	2539	c.2472T>G	c.(2470-2472)ttT>ttG	p.F824L	LAMA5_uc021wfw.1_Missense_Mutation_p.F824L|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	824	Laminin EGF-like 10.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCGGCAGCCAAAATAGTCAG	0.652													3	55					0	0	1	0	0	C	60910087	A	C	60910087	3	2	10	1	0	0	0	0	1	0	0	0	8609	127	5	5	8859	5	LAMA5	20	60910087	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		60910087	2115433	14	261											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802980	31802980	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttccctgagttacggatcCagattctgctacccaaacta	6	14	1	2			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr21:31802980C>A	uc011acw.2	+	0	387	c.387C>A	c.(385-387)tcC>tcA	p.S129S		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	129						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GTTACGGATCCAGATTCTGCT	0.473													8	105					0	0	1	0	0	A	31802980	C	A	31802980	2	1	10	1	0	0	0	0	0	0	0	1	8525	581	21	4		4	KRTAP13-4	21	31802980	Silent	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		31802980	16326915	15	262											
EIF1AX	1964	broad.mit.edu	37	chrX	20156731	20156731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctgcgtctgtttttaCctcctttacctgatggttta	6	12	1	1			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chrX:20156731C>T	uc004czt.3	-	1	234	c.26G>A	c.(25-27)gGt>gAt	p.G9D	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	9						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313													63	38					0	0	1	0	0	T	20156731	C	T	20156731	3	4	10	1	0	0	0	0	1	0	0	0	4992	507	18	2	432	2	EIF1AX	23	20156731	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		20156731	135113829	16	263											
ABCD1	215	broad.mit.edu	37	chrX	152991197	152991197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctggagggccaactggCcctgtcgttccgcagccgtc	12	15	0	0			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chrX:152991197C>T	uc004fif.2	+	0	875	c.476C>T	c.(475-477)gCc>gTc	p.A159V	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	159	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAACTGGCCCTGTCGTTC	0.647													3	39					0	0	1	0	0	T	152991197	C	T	152991197	3	4	10	1	0	0	0	0	1	0	0	0	60	739	26	2	478	2	ABCD1	23	152991197	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	132834466	152991197	2279363	17	264											
EXOSC10	5394	broad.mit.edu	37	chr1	11129618	11129618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccattacttcctcaccaGcaaaagccttgaagtctgac	6	15	2	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:11129618G>A	uc001asa.3	-	21	2536	c.2486C>T	c.(2485-2487)gCt>gTt	p.A829V	EXOSC10_uc001asb.3_Missense_Mutation_p.A804V	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	829					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTCCTCACCAGCAAAAGCCTT	0.502													6	624					0	0	1	0	0	A	11129618	G	A	11129618	3	1	11	1	0	0	0	0	1	0	0	0	5314	971	34	2	187	2	EXOSC10	1	11129618	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		11129618	238121003	1	265											
CGN	57530	broad.mit.edu	37	chr1	151491515	151491515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagcaccattgacactgctCccctgtcttcagtggactca	8	14	3	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:151491515C>T	uc009wmw.3	+	1	664	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	168	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGACACTGCTCCCCTGTCTTC	0.592													6	171					0	0	1	0	0	T	151491515	C	T	151491515	3	4	11	1	0	0	0	0	1	0	0	0	3303	855	30	2	522	2	CGN	1	151491515	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	140361897	151491515	97759106	2	266											
CCDC19	25790	broad.mit.edu	37	chr1	159842908	159842908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctgtaagcgccctgtgGcctttttctcctcctccagc	8	16	1	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:159842908G>A	uc001fui.3	-	10	1421	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.A383V|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	468						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCGCCCTGTGGCCTTTTTCTC	0.602													25	49					0	0	1	0	0	A	159842908	G	A	159842908	3	1	11	1	0	0	0	0	1	0	0	0	2795	1203	42	2	260	2	CCDC19	1	159842908	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	8351393	159842908	89407713	3	267											
SETD2	29072	broad.mit.edu	37	chr3	47162712	47162712	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagaaatttccggattcttCtctgttcctttatgaaggaa	7	7	2	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr3:47162712C>G	uc003cqv.3	-	2	3467	c.3381G>C	c.(3379-3381)gaG>gaC	p.E1127D	SETD2_uc003cqs.3_Missense_Mutation_p.E1138D	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.H1126Y(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCGGATTCTTCTCTGTTCCTT	0.373			"N, F, S, Mis"		clear cell renal carcinoma								12	220					0	0	1	0	0	G	47162712	C	G	47162712	3	3	11	1	0	0	0	0	1	0	0	0	14131	912	32	4	4356	4	SETD2	3	47162712	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		47162712	150859718	4	268											
SPARCL1	8404	broad.mit.edu	37	chr4	88415391	88415391	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctcttggtttccttgAtcccttaggccttggctatg	9	12	1	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr4:88415391A>T	uc010ikm.3	-	4	1133	c.561T>A	c.(559-561)gaT>gaA	p.D187E	SPARCL1_uc011cdc.2_Missense_Mutation_p.D62E|SPARCL1_uc003hqs.4_Missense_Mutation_p.D187E|SPARCL1_uc011cdd.2_Missense_Mutation_p.D62E	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	187					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.R186M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTTTCCTTGATCCCTTAGGC	0.398													8	577					0	0	1	0	0	T	88415391	A	T	88415391	3	4	11	1	0	0	0	0	1	0	0	0	14995	330	12	5	1465	5	SPARCL1	4	88415391	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08		88415391	102738885	5	269											
GHR	2690	broad.mit.edu	37	chr5	42718766	42718766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggatggcgactctggacGtaccagctgttgtgaacctg	14	9	1	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:42718766G>A	uc021xxv.1	+	9	1315	c.1178G>A	c.(1177-1179)cGt>cAt	p.R393H	GHR_uc003jmt.3_Missense_Mutation_p.R386H|GHR_uc003jmu.3_Missense_Mutation_p.R386H|GHR_uc003jmv.2_Missense_Mutation_p.R386H|GHR_uc021xxw.1_Missense_Mutation_p.R386H|GHR_uc021xxx.1_Missense_Mutation_p.R386H|GHR_uc021xxy.1_Missense_Mutation_p.R386H|GHR_uc021xxz.1_Missense_Mutation_p.R386H|GHR_uc021xya.1_Missense_Mutation_p.R386H|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.R199H|GHR_uc021xyd.1_Missense_Mutation_p.R364H	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	386					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GACTCTGGACGTACCAGCTGT	0.473													6	169					0	0	1	0	0	A	42718766	G	A	42718766	3	1	11	1	0	0	0	0	1	0	0	0	6371	1145	40	1	1191	1	GHR	5	42718766	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		42718766	138196494	6	270											
CNOT6	57472	broad.mit.edu	37	chr5	179996203	179996203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atactctgatgtgaagttggTacaaactatgatgttcctct	8	7	2	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:179996203T>C	uc003mlx.3	+	9	1470	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	CNOT6_uc010jld.3_Missense_Mutation_p.V374A|CNOT6_uc010jle.3_Missense_Mutation_p.V369A	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	374					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTGAAGTTGGTACAAACTATG	0.413													3	157					0	0	1	0	0	C	179996203	T	C	179996203	3	2	11	1	0	0	0	0	1	0	0	0	3622	1638	57	3	1155	3	CNOT6	5	179996203	Missense_Mutation	SNP	T	TCGA-BJ-A0ZH-01A-11D-A10S-08	137277437	179996203	919057	7	271											
DSP	1832	broad.mit.edu	37	chr6	7585761	7585761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccatccggaaggggttcAtagatggccgcgccgcacag	14	12	1	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr6:7585761A>G	uc003mxp.1	+	23	8545	c.8266A>G	c.(8266-8268)Ata>Gta	p.I2756V	DSP_uc003mxq.1_Missense_Mutation_p.I2157V|DSP_uc021yle.1_Missense_Mutation_p.I2313V	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2756	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGGGTTCATAGATGGCCG	0.537													5	152					0	0	1	0	0	G	7585761	A	G	7585761	3	3	11	1	0	0	0	0	1	0	0	0	4781	217	8	3	8360	3	DSP	6	7585761	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08		7585761	163529306	8	272											
NOD1	10392	broad.mit.edu	37	chr7	30491380	30491380	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggacgtggtcgctgccccCgcagggggcatccactcctg	14	16	0	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:30491380C>A	uc003tav.3	-	5	2176	c.1653G>T	c.(1651-1653)gcG>gcT	p.A551A		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	551					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGCTGCCCCCGCAGGGGGCA	0.622													4	177					0	0	1	0	0	A	30491380	C	A	30491380	2	1	11	1	0	0	0	0	0	0	0	1	10516	639	23	4		4	NOD1	7	30491380	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		30491380	128647283	9	273											
PARP12	64761	broad.mit.edu	37	chr7	139757774	139757774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtggtcaacgccatgAgttctcagcacactcaggtt	10	12	4	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:139757774A>G	uc003vvl.1	-	1	1261	c.387T>C	c.(385-387)acT>acC	p.T129T	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	129						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CAACGCCATGAGTTCTCAGCA	0.483													3	170					0	0	1	0	0	G	139757774	A	G	139757774	2	3	11	1	0	0	0	0	0	0	0	1	11457	291	11	3		3	PARP12	7	139757774	Silent	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	109266394	139757774	19380889	10	274											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	71					0	0	1	0	0	T	140453136	A	T	140453136	3	4	11	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	695362	140453136	18685527	11	275											
DKK4	27121	broad.mit.edu	37	chr8	42231877	42231877	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacaactttctccctcttgtCctgtaacaaggttaatgtgg	8	10	2	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr8:42231877C>A	uc003xpb.3	-	4	527	c.416_splice	c.e4-1	p.G139_splice		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	139					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCCCTCTTGTCCTGTAACAAG	0.463													4	120					0	0	1	0	0	A	42231877	C	A	42231877	5	1	11	1	0	0	0	0	0	0	1	0	4547	869	30	4	262	4	DKK4	8	42231877	Splice_Site	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		42231877	104132145	12	276											
PIGO	84720	broad.mit.edu	37	chr9	35092632	35092632	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacagtcggcagtgtcgcctCagcccccttggggctctgga	13	15	2	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:35092632C>T	uc003zwd.3	-	6	1648	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	PIGO_uc003zwe.3_Missense_Mutation_p.E418K|PIGO_uc003zwf.3_Missense_Mutation_p.E418K|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	418					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTGTCGCCTCAGCCCCCTTG	0.587													17	67					0	0	1	0	0	T	35092632	C	T	35092632	3	4	11	1	0	0	0	0	1	0	0	0	11894	835	29	2	2037	2	PIGO	9	35092632	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		35092632	106120799	13	277											
OR13F1	138805	broad.mit.edu	37	chr9	107266544	107266544	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacataacataaaaaaAtgttcccggcaaattggaca	8	7	0	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:107266544A>G	uc011lvm.2	+	1	1	c.1_splice	c.e1-1	p.M1_splice		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACATAAAAAAATGTTCCCGGC	0.368													10	90					0	0	1	0	0	G	107266544	A	G	107266544	5	3	11	1	0	0	0	0	0	0	1	0	10941	115	4	3	3	3	OR13F1	9	107266544	Splice_Site	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	72173912	107266544	33946887	14	278											
PTGES2	80142	broad.mit.edu	37	chr9	130885238	130885238	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgagtcgcttgctgatgaGgtacatggccgctgcaccca	12	12	0	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:130885238G>C	uc004bti.3	-	4	1340	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V	PTGES2_uc004btk.3_Missense_Mutation_p.L97V|PTGES2_uc004btl.3_Missense_Mutation_p.L97V	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA.	288	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTGCTGATGAGGTACATGGCC	0.627													4	86					0	0	1	0	0	C	130885238	G	C	130885238	3	2	11	1	0	0	0	0	1	0	0	0	12747	1000	35	4	283	4	PTGES2	9	130885238	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	23618694	130885238	10328193	15	279											
CYP2E1	1571	broad.mit.edu	37	chr10	135345689	135345689	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgcaacgtcatagccgacatCctcttccgcaagcattttga	7	13	2	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr10:135345689C>G	uc001lnj.1	+	3	582	c.549C>G	c.(547-549)atC>atG	p.I183M	CYP2E1_uc001lnk.1_Missense_Mutation_p.I46M|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	183					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TAGCCGACATCCTCTTCCGCA	0.522									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				11	160					0	0	1	0	0	G	135345689	C	G	135345689	3	3	11	1	0	0	0	0	1	0	0	0	4170	845	30	4	563	4	CYP2E1	10	135345689	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		135345689	189058	16	280											
LRRC4C	57689	broad.mit.edu	37	chr11	40137758	40137758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttgaagagccagcagcaCcacaagcagggggtcaaata	12	9	1	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr11:40137758C>T	uc001mxa.1	-	1	2049	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	LRRC4C_uc001mxc.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxd.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxb.1_Missense_Mutation_p.V25M|LRRC4C_uc021qgf.1_Missense_Mutation_p.V29M	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	29					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCAGCAGCACCACAAGCAGG	0.498													12	37					0	0	1	0	0	T	40137758	C	T	40137758	3	4	11	1	0	0	0	0	1	0	0	0	9008	507	18	2	1841	2	LRRC4C	11	40137758	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		40137758	94868758	17	281											
PTPRO	5800	broad.mit.edu	37	chr12	15636959	15636959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgataataacatcgttgtcTcattagaagcttcagacgtc	7	8	2	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:15636959T>C	uc001rcv.2	+	1	597	c.127T>C	c.(127-129)Tca>Cca	p.S43P	PTPRO_uc001rcw.2_Missense_Mutation_p.S43P|PTPRO_uc001rcu.2_Missense_Mutation_p.S43P	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	43						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S43S(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATCGTTGTCTCATTAGAAGC	0.348													41	104					0	0	1	0	0	C	15636959	T	C	15636959	3	2	11	1	0	0	0	0	1	0	0	0	12809	1551	54	3	133	3	PTPRO	12	15636959	Missense_Mutation	SNP	T	TCGA-BJ-A0ZH-01A-11D-A10S-08		15636959	118214936	18	282											
DENND5B	160518	broad.mit.edu	37	chr12	31605154	31605154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggctatggtttcattgCccttcagtaactcatacatg	9	10	3	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:31605154C>T	uc001rkh.1	-	6	1605	c.1454G>A	c.(1453-1455)gGc>gAc	p.G485D	DENND5B_uc001rki.1_Missense_Mutation_p.G450D|DENND5B_uc001rkj.3_Missense_Mutation_p.G472D|DENND5B_uc001rkk.1_Missense_Mutation_p.G372D	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	450						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTTTCATTGCCCTTCAGTAA	0.448													7	315					0	0	1	0	0	T	31605154	C	T	31605154	3	4	11	1	0	0	0	0	1	0	0	0	4437	739	26	2	2543	2	DENND5B	12	31605154	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	15968195	31605154	102246741	19	283											
UNG	7374	broad.mit.edu	37	chr12	109536206	109536206	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggaaggggccgctgcagctCttgagccgcctctgcgggga	18	12	2	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:109536206C>G	uc001toa.2	+	0	284	c.75C>G	c.(73-75)ctC>ctG	p.L25L	UNG_uc001tnz.2_Intron	NM_003362	NP_003353	P13051	UNG_HUMAN	Homo sapiens uracil-DNA glycosylase (UNG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CGCTGCAGCTCTTGAGCCGCC	0.697								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				5	67					0	0	1	0	0	G	109536206	C	G	109536206	2	3	11	1	0	0	0	0	0	0	0	1	16996	900	32	4		4	UNG	12	109536206	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	77931052	109536206	24315689	20	284											
BRCA2	675	broad.mit.edu	37	chr13	32953493	32953493	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttaagagccttgaataatCacaggcaaatgttgaatgat	9	5	1	4			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr13:32953493C>T	uc001uub.1	+	21	9021	c.8794C>T	c.(8794-8796)Cac>Tac	p.H2932Y		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2932					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTGAATAATCACAGGCAAAT	0.363			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			9	73					0	0	1	0	0	T	32953493	C	T	32953493	3	4	11	1	0	0	0	0	1	0	0	0	1499	826	29	2	8876	2	BRCA2	13	32953493	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		32953493	82216385	21	285											
CBLN3	643866	broad.mit.edu	37	chr14	24897090	24897090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacactcggtccccagGgtccaagggcagtagcacag	13	13	0	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:24897090G>A	uc001wpg.4	-	2	994	c.523C>T	c.(523-525)Cct>Tct	p.P175S	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	175	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGGTCCCCAGGGTCCAAGGGC	0.587													7	196					0	0	1	0	0	A	24897090	G	A	24897090	3	1	11	1	0	0	0	0	1	0	0	0	2706	1232	43	2	98	2	CBLN3	14	24897090	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		24897090	82452450	22	286											
ERO1L	30001	broad.mit.edu	37	chr14	53150513	53150513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattaaaaataccttgtaaTacctaaagtagtcactttca	3	7	2	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:53150513T>C	uc001wzv.3	-	1	447	c.227A>G	c.(226-228)tAt>tGt	p.Y76C		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	76					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					taCCTTGTAATACCTAAAGTA	0.259													3	33					0	0	1	0	0	C	53150513	T	C	53150513	3	2	11	1	0	0	0	0	1	0	0	0	5239	1406	49	3	1239	3	ERO1L	14	53150513	Missense_Mutation	SNP	T	TCGA-BJ-A0ZH-01A-11D-A10S-08	28253423	53150513	54199027	23	287											
TTC8	123016	broad.mit.edu	37	chr14	89319349	89319349	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgccctctccacagaacattCtcagtacaaggactggtggt	9	12	2	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:89319349C>G	uc010ath.3	+	7	841	c.707C>G	c.(706-708)tCt>tGt	p.S236C	TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.S220C|TTC8_uc001xxj.3_Missense_Mutation_p.S210C|TTC8_uc001xxk.3_Missense_Mutation_p.S180C|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_Missense_Mutation_p.S22C|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	246					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACAGAACATTCTCAGTACAAG	0.363													31	65					0	0	1	0	0	G	89319349	C	G	89319349	3	3	11	1	0	0	0	0	1	0	0	0	16711	913	32	4	689	4	TTC8	14	89319349	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	36168836	89319349	18030191	24	288											
GPR56	9289	broad.mit.edu	37	chr16	57695714	57695714	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaccatggtggtgcagatCctgcggctgcgcccccacac	12	17	0	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr16:57695714C>T	uc002emb.2	+	13	2080	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	GPR56_uc002ema.1_Silent_p.I421I|GPR56_uc002emc.2_Silent_p.I590I|GPR56_uc002emf.2_Silent_p.I590I|GPR56_uc010vhs.1_Silent_p.I596I|GPR56_uc002emd.2_Silent_p.I590I|GPR56_uc002eme.2_Silent_p.I590I|GPR56_uc010vht.1_Silent_p.I595I|GPR56_uc002emg.3_Silent_p.I590I|GPR56_uc010vhu.1_Silent_p.I415I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	596					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGGTGCAGATCCTGCGGCTGC	0.602													4	118					0	0	1	0	0	T	57695714	C	T	57695714	2	4	11	1	0	0	0	0	0	0	0	1	6700	845	30	2		2	GPR56	16	57695714	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		57695714	32659039	25	289											
TUSC5	286753	broad.mit.edu	37	chr17	1198817	1198817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcaacagggcaacgtggaCggcgcccggaggctgggccg	18	12	0	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:1198817C>T	uc002fsi.1	+	1	759	c.420C>T	c.(418-420)gaC>gaT	p.D140D		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.	140					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAACGTGGACGGCGCCCGGA	0.622													13	226					0	0	1	0	0	T	1198817	C	T	1198817	2	4	11	1	0	0	0	0	0	0	0	1	16776	535	19	1		1	TUSC5	17	1198817	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		1198817	79996393	26	290											
LUC7L3	51747	broad.mit.edu	37	chr17	48823271	48823271	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaagaaagagaagtcgttCacgaagtagacactcaagcc	10	8	2	4			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:48823271C>A	uc002isq.3	+	7	1052	c.884C>A	c.(883-885)tCa>tAa	p.S295*	LUC7L3_uc010wmw.2_Nonsense_Mutation_p.S219*|LUC7L3_uc002isr.3_Nonsense_Mutation_p.S295*|LUC7L3_uc002iss.3_Nonsense_Mutation_p.S295*	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	295	Arg/Ser-rich.				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGAAGTCGTTCACGAAGTAGA	0.458													6	17					0	0	1	0	0	A	48823271	C	A	48823271	4	1	11	1	0	0	0	0	0	1	0	0	9084	838	29	4	914	4	LUC7L3	17	48823271	Nonsense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	47624454	48823271	32371939	27	291											
UNC13D	201294	broad.mit.edu	37	chr17	73831849	73831849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgtgtggtcctgcacccGcttggccacctgcaaaggaa	12	14	0	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:73831849G>A	uc002jpp.3	-	18	1986	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	UNC13D_uc010wsk.1_Missense_Mutation_p.R536W|UNC13D_uc002jpq.1_Missense_Mutation_p.R186W	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	536	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTGCACCCGCTTGGCCACC	0.622									Familial Hemophagocytic Lymphohistiocytosis				4	164					0	0	1	0	0	A	73831849	G	A	73831849	3	1	11	1	0	0	0	0	1	0	0	0	16984	1086	38	1	1722	1	UNC13D	17	73831849	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	25008578	73831849	7363361	28	292											
EVI5L	115704	broad.mit.edu	37	chr19	7914210	7914210	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatcgtgggcctgctcctCatgcaggtaggtggctgggg	16	10	2	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:7914210C>A	uc010xjz.2	+	3	668	c.621C>A	c.(619-621)ctC>ctA	p.L207L	EVI5L_uc002min.3_Silent_p.L207L|EVI5L_uc002mio.1_5'Flank	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	207	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCCTGCTCCTCATGCAGGTAG	0.647													4	88					0	0	1	0	0	A	7914210	C	A	7914210	2	1	11	1	0	0	0	0	0	0	0	1	5290	813	29	4		4	EVI5L	19	7914210	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		7914210	51214773	29	293											
MUC16	94025	broad.mit.edu	37	chr19	9011326	9011326	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catcacatctgttcaccattGacatagagactgttcctgtc	6	12	3	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:9011326G>C	uc002mkp.3	-	35	39111	c.38907C>G	c.(38905-38907)gtC>gtG	p.V12969V	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12971	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCACCATTGACATAGAGAC	0.537													9	283					0	0	1	0	0	C	9011326	G	C	9011326	2	2	11	1	0	0	0	0	0	0	0	1	9973	1277	45	4		4	MUC16	19	9011326	Silent	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	1097116	9011326	50117657	30	294											
ZNF146	7705	broad.mit.edu	37	chr19	36727354	36727354	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccattcagatgtcacacctCagccagcagagaatttacag	7	12	3	2			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:36727354C>T	uc002odq.4	+	3	1535	c.12C>T	c.(10-12)ctC>ctT	p.L4L	ZNF146_uc010eet.3_Silent_p.L4L|ZNF146_uc010eeu.3_Silent_p.L4L|ZNF146_uc021ute.1_Silent_p.L4L	NM_007145	NP_009076	Q15072	OZF_HUMAN	Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA.	4					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGTCACACCTCAGCCAGCAGA	0.418													4	69					0	0	1	0	0	T	36727354	C	T	36727354	2	4	11	1	0	0	0	0	0	0	0	1	17730	813	29	2		2	ZNF146	19	36727354	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	27716028	36727354	22401629	31	295											
ZNF28	7576	broad.mit.edu	37	chr19	53303160	53303160	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggtatacgagggatgacatCtgactgaaggtcttgccaca	12	8	2	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53303160C>G	uc002qad.3	-	3	2095	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	ZNF28_uc002qac.3_Missense_Mutation_p.Q592H|ZNF28_uc010eqe.3_Missense_Mutation_p.Q592H|ZNF28_uc021uza.1_Missense_Mutation_p.Q593H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGGATGACATCTGACTGAAGG	0.433													15	354					0	0	1	0	0	G	53303160	C	G	53303160	3	3	11	1	0	0	0	0	1	0	0	0	17810	912	32	4	222	4	ZNF28	19	53303160	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	16575806	53303160	5825823	32	296			1	3		3	3	1617	C		1.861733e-06
ZNF28	7576	broad.mit.edu	37	chr19	53304746	53304746	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctgtactaccagtcaactCtttgatttctgtcatgggtg	9	10	4	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304746C>G	uc002qad.3	-	3	509	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	ZNF28_uc002qac.3_Missense_Mutation_p.E64Q|ZNF28_uc010eqe.3_Missense_Mutation_p.E64Q|ZNF28_uc021uza.1_Missense_Mutation_p.E65Q	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E65*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGTCAACTCTTTGATTTCT	0.403													15	459					0	0	1	0	0	G	53304746	C	G	53304746	3	3	11	1	0	0	0	0	1	0	0	0	17810	922	32	4	1808	4	ZNF28	19	53304746	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	1586	53304746	5824237	33	297			1	3		3	3	1617	C		1.861733e-06
ZNF28	7576	broad.mit.edu	37	chr19	53304776	53304776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtcatgggtgctgcatggtCatttgtttcatcttctttcc	9	9	5	0			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304776C>G	uc002qad.3	-	3	479	c.322G>C	c.(322-324)Gac>Cac	p.D108H	ZNF28_uc002qac.3_Missense_Mutation_p.D54H|ZNF28_uc010eqe.3_Missense_Mutation_p.D54H|ZNF28_uc021uza.1_Missense_Mutation_p.D55H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GCTGCATGGTCATTTGTTTCA	0.408													12	442					0	0	1	0	0	G	53304776	C	G	53304776	3	3	11	1	0	0	0	0	1	0	0	0	17810	826	29	4	1838	4	ZNF28	19	53304776	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	30	53304776	5824207	34	298			1	3		3	3	1617	C		1.861733e-06
MOCS3	27304	broad.mit.edu	37	chr20	49575532	49575532	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggtgtcgccgctgccgccGaaggccgctctgtcccgaga	14	17	1	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr20:49575532G>A	uc002xvy.1	+	0	170	c.153G>A	c.(151-153)ccG>ccA	p.P51P	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	51					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGCTGCCGCCGAAGGCCGCTC	0.652													4	89					0	0	1	0	0	A	49575532	G	A	49575532	2	1	11	1	0	0	0	0	0	0	0	1	9692	1045	37	1		1	MOCS3	20	49575532	Silent	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		49575532	13449988	35	299											
ARSH	347527	broad.mit.edu	37	chrX	2947386	2947386	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggggtctatctgcacaCggtcaggtggcatcagaagg	15	9	4	1			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:2947386C>G	uc011mhj.2	+	7	1298	c.1298C>G	c.(1297-1299)aCg>aGg	p.T433R		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	433						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATCTGCACACGGTCAGGTGG	0.572													3	222					0	0	1	0	0	G	2947386	C	G	2947386	3	3	11	1	0	0	0	0	1	0	0	0	993	536	19	4	1328	4	ARSH	23	2947386	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		2947386	152323174	36	300											
GPRASP1	9737	broad.mit.edu	37	chrX	101910801	101910801	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagccaaagaagaggtcagtAtgaagcatgggactggtgtc	15	6	1	3			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:101910801A>T	uc010nod.3	+	2	2602	c.1960A>T	c.(1960-1962)Atg>Ttg	p.M654L	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.M654L|GPRASP1_uc004ejj.4_Missense_Mutation_p.M654L|GPRASP1_uc004eji.4_Missense_Mutation_p.M654L|GPRASP1_uc022cbd.1_Missense_Mutation_p.M654L	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	654	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGGTCAGTATGAAGCATGG	0.478													11	238					0	0	1	0	0	T	101910801	A	T	101910801	3	4	11	1	0	0	0	0	1	0	0	0	6722	449	16	5	1962	5	GPRASP1	23	101910801	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	98963415	101910801	53359759	37	301											
OR4A15	81328	broad.mit.edu	37	chr11	55135389	55135389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaataatctcaaattTatcactgacccttttgtttg	4	9	2	2			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr11:55135389T>C	uc010rif.2	+	0	30	c.30T>C	c.(28-30)ttT>ttC	p.F10F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCTCAAATTTATCACTGACC	0.413													4	78					0	0	1	0	0	C	55135389	T	C	55135389	2	2	12	1	0	0	0	0	0	0	0	1	11040	1751	61	3		3	OR4A15	11	55135389	Silent	SNP	T	TCGA-BJ-A0ZJ-01A-11D-A10S-08		55135389	79871127	1	302											
CASC5	57082	broad.mit.edu	37	chr15	40913253	40913253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtatctcttaaggaagAtgaaaataacagtaatatta	7	4	1	2			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr15:40913253A>G	uc010bbs.1	+	10	1030	c.869A>G	c.(868-870)gAt>gGt	p.D290G	CASC5_uc010ucq.1_Missense_Mutation_p.D114G|CASC5_uc001zme.3_Missense_Mutation_p.D264G|CASC5_uc010bbt.1_Missense_Mutation_p.D264G	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	290	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTAAGGAAGATGAAAATAAC	0.363													6	93					0	0	1	0	0	G	40913253	A	G	40913253	3	3	12	1	0	0	0	0	1	0	0	0	2663	333	12	3	907	3	CASC5	15	40913253	Missense_Mutation	SNP	A	TCGA-BJ-A0ZJ-01A-11D-A10S-08		40913253	61618139	2	303											
LPPR4	9890	broad.mit.edu	37	chr1	99771893	99771893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcacatccctgaggagaCtcaggaaaacataagcacct	10	11	1	2			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr1:99771893C>G	uc001dse.3	+	6	1777	c.1619C>G	c.(1618-1620)aCt>aGt	p.T540S	LPPR4_uc010oue.2_Missense_Mutation_p.T482S	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	540							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCTGAGGAGACTCAGGAAAAC	0.557													3	41					0	0	1	0	0	G	99771893	C	G	99771893	3	3	13	1	0	0	0	0	1	0	0	0	8927	565	20	4	1645	4	LPPR4	1	99771893	Missense_Mutation	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08		99771893	149478728	1	304											
PRSS38	339501	broad.mit.edu	37	chr1	228033757	228033757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccctctgtaccctggaGtgtatgccagtgtttcctat	8	13	1	0			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr1:228033757G>A	uc001hrh.3	+	4	829	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	277	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTACCCTGGAGTGTATGCCAG	0.547													7	71					0	0	1	0	0	A	228033757	G	A	228033757	3	1	13	1	0	0	0	0	1	0	0	0	12627	1029	36	2	847	2	PRSS38	1	228033757	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08	128261864	228033757	21216864	2	305											
MFSD2B	388931	broad.mit.edu	37	chr2	24245335	24245335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtcctgttctgtacAcatgcctcccagctacacga	7	15	1	0			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:24245335A>G	uc002reo.2	+	8	941	c.927A>G	c.(925-927)acA>acG	p.T309T		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	309					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTTCTGTACACATGCCTCCC	0.607													14	20					0	0	1	0	0	G	24245335	A	G	24245335	2	3	13	1	0	0	0	0	0	0	0	1	9531	146	6	3		3	MFSD2B	2	24245335	Silent	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08		24245335	218954038	3	306											
TTC7A	57217	broad.mit.edu	37	chr2	47222329	47222329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctcctcctcatcagCgaatccatggtaagctccag	7	16	2	0			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:47222329C>A	uc010fbb.3	+	7	1424	c.1056C>A	c.(1054-1056)agC>agA	p.S352R	TTC7A_uc002rvm.3_Missense_Mutation_p.S318R|TTC7A_uc002rvn.1_Missense_Mutation_p.S233R|TTC7A_uc002rvo.3_Missense_Mutation_p.S352R|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Missense_Mutation_p.S233R|TTC7A_uc002rvq.3_Missense_Mutation_p.S92R|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	352							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TCCTCATCAGCGAATCCATGG	0.607													3	55					0	0	1	0	0	A	47222329	C	A	47222329	3	1	13	1	0	0	0	0	1	0	0	0	16709	767	27	4	1086	4	TTC7A	2	47222329	Missense_Mutation	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08	22976994	47222329	195977044	4	307											
LRP1B	53353	broad.mit.edu	37	chr2	141259265	141259265	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagtacctaccttataactGaccggaaggtcttgacagtc	9	10	1	3			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:141259265G>T	uc002tvj.1	-	54	9813	c.8841C>A	c.(8839-8841)gtC>gtA	p.V2947V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2947	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P2946P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTTATAACTGACCGGAAGGT	0.353										TSP Lung(27;0.18)			3	22					0	0	1	0	0	T	141259265	G	T	141259265	2	4	13	1	0	0	0	0	0	0	0	1	8955	1277	45	4		4	LRP1B	2	141259265	Silent	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08	94036936	141259265	101940108	5	308											
RRP9	9136	broad.mit.edu	37	chr3	51969488	51969488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacagcgtcctggtgtcCgaagctagagggccgggcag	16	12	0	1			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr3:51969488C>T	uc003dbw.1	-	9	880	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	281					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TCCTGGTGTCCGAAGCTAGAG	0.627													11	33					0	0	1	0	0	T	51969488	C	T	51969488	3	4	13	1	0	0	0	0	1	0	0	0	13691	661	23	1	610	1	RRP9	3	51969488	Missense_Mutation	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08		51969488	146052942	6	309											
NDST3	9348	broad.mit.edu	37	chr4	118975673	118975673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcattctccattgattcGtgtgaccaaatcttccaagc	5	13	3	2			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr4:118975673G>T	uc003ibx.3	+	1	1011	c.608G>T	c.(607-609)cGt>cTt	p.R203L	NDST3_uc011cgf.1_Missense_Mutation_p.R203L|NDST3_uc003ibw.3_Missense_Mutation_p.R203L	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	203	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358													3	40					0	0	1	0	0	T	118975673	G	T	118975673	3	4	13	1	0	0	0	0	1	0	0	0	10257	1145	40	4	610	4	NDST3	4	118975673	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08		118975673	72178603	7	310											
CYB5R4	51167	broad.mit.edu	37	chr6	84618797	84618797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaatggccattaaacctGctgttctgaaaggtaagtgg	12	7	1	2			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr6:84618797G>A	uc003pkf.3	+	3	532	c.400G>A	c.(400-402)Gct>Act	p.A134T		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	134					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CATTAAACCTGCTGTTCTGAA	0.393													11	26					0	0	1	0	0	A	84618797	G	A	84618797	3	1	13	1	0	0	0	0	1	0	0	0	4129	1319	46	2	414	2	CYB5R4	6	84618797	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08		84618797	86496270	8	311											
TG	7038	broad.mit.edu	37	chr8	133899654	133899654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcagccagcctgctggCtccaccttgtttgtccctgc	11	15	0	0			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr8:133899654C>T	uc003ytw.3	+	8	2078	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	679	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCCTGCTGGCTCCACCTTGT	0.557													10	52					0	0	1	0	0	T	133899654	C	T	133899654	2	4	13	1	0	0	0	0	0	0	0	1	15810	784	28	2		2	TG	8	133899654	Silent	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08		133899654	12464368	9	312											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870595	129870595	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcgtgcaggagctgcAtgtagagctgcgtgacccgc	14	11	1	3			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr9:129870595A>T	uc004bqr.1	-	1	916	c.416T>A	c.(415-417)aTg>aAg	p.M139K	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	139					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CAGGAGCTGCATGTAGAGCTG	0.617													4	56					0	0	1	0	0	T	129870595	A	T	129870595	3	4	13	1	0	0	0	0	1	0	0	0	614	217	8	5	1081	5	ANGPTL2	9	129870595	Missense_Mutation	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08		129870595	11342836	10	313											
HRAS	3265	broad.mit.edu	37	chr11	533875	533875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcgctgtactcctcctGgccggcggtatccaggatgt	13	13	0	0	rs28933406		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:533875G>T	uc001lpv.3	-	2	369	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			49	116					0	0	1	0	0	T	533875	G	T	533875	3	4	13	1	0	0	0	0	1	0	0	0	7348	1357	47	4	467	4	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08		533875	134472641	11	314											
SLC22A6	9356	broad.mit.edu	37	chr11	62747391	62747391	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcaggtccatgaccAgcccatagtatgcaaagcta	9	13	0	1			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:62747391A>C	uc001nwk.3	-	6	1400	c.1067T>G	c.(1066-1068)cTg>cGg	p.L356R	SLC22A6_uc001nwl.3_Missense_Mutation_p.L356R|SLC22A6_uc001nwj.3_Missense_Mutation_p.L356R|SLC22A6_uc001nwm.3_Missense_Mutation_p.L356R	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	356					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTCCATGACCAGCCCATAGTA	0.502													5	117					0	0	1	0	0	C	62747391	A	C	62747391	3	2	13	1	0	0	0	0	1	0	0	0	14458	188	7	5	640	5	SLC22A6	11	62747391	Missense_Mutation	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08	62213516	62747391	72259125	12	315											
UBTFL1	642623	broad.mit.edu	37	chr11	89819843	89819843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtcaagtaaagagatGcaacatttgtcagtgaggga	12	6	2	2			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:89819843G>A	uc010rub.2	+	0	726	c.726G>A	c.(724-726)atG>atA	p.M242I		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	242					multicellular organismal development	cytoplasm|nucleus	DNA binding										GTAAAGAGATGCAACATTTGT	0.483													5	58					0	0	1	0	0	A	89819843	G	A	89819843	3	1	13	1	0	0	0	0	1	0	0	0	16907	1319	46	2	728	2	UBTFL1	11	89819843	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08	27072452	89819843	45186673	13	316											
DENND5B	160518	broad.mit.edu	37	chr12	31605085	31605085	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcacccagagaagcagagAggtccattttttccacagcc	8	12	1	2			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr12:31605085A>C	uc001rkh.1	-	6	1674	c.1523T>G	c.(1522-1524)cTc>cGc	p.L508R	DENND5B_uc001rki.1_Missense_Mutation_p.L473R|DENND5B_uc001rkj.3_Missense_Mutation_p.L495R|DENND5B_uc001rkk.1_Missense_Mutation_p.L395R	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	473	dDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAAGCAGAGAGGTCCATTTT	0.468													9	234					0	0	1	0	0	C	31605085	A	C	31605085	3	2	13	1	0	0	0	0	1	0	0	0	4437	304	11	5	2474	5	DENND5B	12	31605085	Missense_Mutation	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08		31605085	102246810	14	317											
LPPR3	79948	broad.mit.edu	37	chr19	813360	813362	+	In_Frame_Del	DEL	TCC	TCC	-													ggccctcgtcctcctcctctTcctcctcctcctcttcctct							TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:813360_813362delTCC	uc002lpw.1	-	6	1513_1515	c.1449_1451delGGA	c.(1447-1452)gaggaa>gaa	p.483_484EE>E	LPPR3_uc021ulz.1_In_Frame_Del_p.91_92EE>E|LPPR3_uc002lpx.1_In_Frame_Del_p.455_456EE>E|LPPR3_uc002lpy.1_In_Frame_Del_p.236_237EE>E|MIR3187_uc021uma.1_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	455						integral to membrane	phosphatidate phosphatase activity										ctcctcctcttcctcctcctcct	0.759													2	4	---	---	---	---						-	813362	TCC	-	813360	7	5	13	1	0	1	0	1	0	0	0	0	8926	1783	62	0	793	0	LPPR3	19	813360	In_Frame_Del	DEL	TCC	TCGA-BJ-A18Y-01A-11D-A13W-08		813360	58315623	15	318											
TPRX1	284355	broad.mit.edu	37	chr19	48306192	48306193	+	Frame_Shift_Ins	INS	-	-	C													cgctggggctgctgctggagINSccgccgctcccgagctagtt							TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:48306192_48306193insC	uc002php.2	-	1	215_216	c.75_76insG	c.(73-78)cggctcfs	p.R25fs		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	25						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TGCTGCTGGAGCCGCCGCTCCC	0.723													2	4	---	---	---	---						C	48306193	-	C	48306192	7	5	13	1	0	1	1	0	0	0	0	0	16419	971	34	0	1163	0	TPRX1	19	48306192	Frame_Shift_Ins	INS	-	TCGA-BJ-A18Y-01A-11D-A13W-08	47492832	48306192	10822791	16	319											
HFM1	164045	broad.mit.edu	37	chr1	91733329	91733329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcttctcagtatcagTtgaaaagctagtaacttcta	6	7	4	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr1:91733329T>C	uc001doa.4	-	34	3955	c.3856A>G	c.(3856-3858)Act>Gct	p.T1286A	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.T965A|HFM1_uc001dob.4_Missense_Mutation_p.T474A|HFM1_uc010osv.1_Missense_Mutation_p.T970A	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1286							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.S1285L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAGTATCAGTTGAAAAGCTA	0.303													3	36					0	0	1	0	0	C	91733329	T	C	91733329	3	2	14	1	0	0	0	0	1	0	0	0	7083	1725	60	3	471	3	HFM1	1	91733329	Missense_Mutation	SNP	T	TCGA-BJ-A18Z-01A-21D-A13W-08		91733329	157517292	1	320											
OR14C36	127066	broad.mit.edu	37	chr1	248512212	248512212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacatcctcattgtgaccGtcaccacctgtgacagcagc	8	14	2	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr1:248512212G>A	uc010pzl.2	+	0	136	c.136G>A	c.(136-138)Gtc>Atc	p.V46I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CATTGTGACCGTCACCACCTG	0.438													11	131					0	0	1	0	0	A	248512212	G	A	248512212	3	1	14	1	0	0	0	0	1	0	0	0	10946	1145	40	1	138	1	OR14C36	1	248512212	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	156778883	248512212	738409	2	321											
ARHGEF4	50649	broad.mit.edu	37	chr2	131704157	131704157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatccactctcccagagtGctccaacgggactgaaccac	8	17	1	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr2:131704157G>A	uc010fmw.1	+	2	2668	c.2314G>A	c.(2314-2316)Gct>Act	p.A772T	ARHGEF4_uc002tsa.1_Missense_Mutation_p.A126T|ARHGEF4_uc002tsb.1_Missense_Mutation_p.A126T|ARHGEF4_uc010fmx.1_Missense_Mutation_p.A126T|ARHGEF4_uc002trz.1_Missense_Mutation_p.A772T			Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	126					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTCCCAGAGTGCTCCAACGGG	0.532													6	120					0	0	1	0	0	A	131704157	G	A	131704157	3	1	14	1	0	0	0	0	1	0	0	0	908	1319	46	2	382	2	ARHGEF4	2	131704157	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		131704157	111495216	3	322											
AOX1	316	broad.mit.edu	37	chr2	201467063	201467063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcatgcaagactttcTgtaaagtaagtggaaaggac	11	5	1	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr2:201467063T>C	uc002uvx.3	+	5	594	c.493T>C	c.(493-495)Tgt>Cgt	p.C165R		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	165					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAAGACTTTCTGTAAAGTAAG	0.448													26	67					0	0	1	0	0	C	201467063	T	C	201467063	3	2	14	1	0	0	0	0	1	0	0	0	729	1580	55	3	515	3	AOX1	2	201467063	Missense_Mutation	SNP	T	TCGA-BJ-A18Z-01A-21D-A13W-08	69762906	201467063	41732310	4	323											
GSTA2	2939	broad.mit.edu	37	chr6	52616490	52616490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccaacaaggtagtcttgtCcgtggctctttaagacctgg	11	10	2	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr6:52616490C>T	uc003pay.3	-	5	581	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	144	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.G144R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GTAGTCTTGTCCGTGGCTCTT	0.537													23	115					0	0	1	0	0	T	52616490	C	T	52616490	3	4	14	1	0	0	0	0	1	0	0	0	6831	855	30	2	245	2	GSTA2	6	52616490	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		52616490	118498577	5	324											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				20	67					0	0	1	0	0	T	140453136	A	T	140453136	3	4	14	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		140453136	18685527	6	325											
WNK2	65268	broad.mit.edu	37	chr9	96069101	96069101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaggcaaagaacacagcaGtagtaattatccgggttttt	9	8	0	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:96069101G>A	uc004ati.1	+	26	6368	c.6368G>A	c.(6367-6369)aGt>aAt	p.S2123N	WNK2_uc011lud.1_Missense_Mutation_p.S2086N|WNK2_uc004atj.3_Missense_Mutation_p.S2086N|WNK2_uc004atk.3_Intron	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2123					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.V2122A(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAACACAGCAGTAGTAATTAT	0.567													7	200					0	0	1	0	0	A	96069101	G	A	96069101	3	1	14	1	0	0	0	0	1	0	0	0	17375	1029	36	2	6359	2	WNK2	9	96069101	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		96069101	45144330	7	326											
MUSK	4593	broad.mit.edu	37	chr9	113563207	113563207	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcagacagacccagtttcaCcagtattcaccgaattctgg	8	12	3	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:113563207C>G	uc022blv.1	+	14	2683	c.2549C>G	c.(2548-2550)aCc>aGc	p.T850S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.T761S|MUSK_uc022blu.1_Missense_Mutation_p.T751S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	850	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCCAGTTTCACCAGTATTCAC	0.507													8	26					0	0	1	0	0	G	113563207	C	G	113563207	3	3	14	1	0	0	0	0	1	0	0	0	9989	507	18	4	2639	4	MUSK	9	113563207	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08	17494106	113563207	27650224	8	327											
FAM129B	64855	broad.mit.edu	37	chr9	130279165	130279165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggcaaggtgctccttgGaggtgataatttggtccatg	14	7	0	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:130279165G>A	uc004brh.3	-	7	1146	c.944C>T	c.(943-945)tCc>tTc	p.S315F	FAM129B_uc004bri.3_Missense_Mutation_p.S302F|FAM129B_uc004brj.4_Missense_Mutation_p.S315F	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	315							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTCCTTGGAGGTGATAAT	0.597													78	286					0	0	1	0	0	A	130279165	G	A	130279165	3	1	14	1	0	0	0	0	1	0	0	0	5437	1174	41	2	1324	2	FAM129B	9	130279165	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	16715958	130279165	10934266	9	328											
SGPL1	8879	broad.mit.edu	37	chr10	72633169	72633169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagaagtacaggaactAtcagttcttcgtcgatacag	9	8	2	2	rs139751906	byFrequency	TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr10:72633169A>G	uc001jrm.3	+	11	1343	c.1121A>G	c.(1120-1122)tAt>tGt	p.Y374C	SGPL1_uc009xqk.3_Non-coding_Transcript	NM_003901	NP_003892	O95470	SGPL1_HUMAN	Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.	374					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TACAGGAACTATCAGTTCTTC	0.502													5	136					0	0	1	0	0	G	72633169	A	G	72633169	3	3	14	1	0	0	0	0	1	0	0	0	14218	449	16	3	1163	3	SGPL1	10	72633169	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		72633169	62901578	10	329											
LGI1	9211	broad.mit.edu	37	chr10	95556981	95556981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttacaaatggaacggaaaCggattctactcccatcaatc	6	10	2	0			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr10:95556981C>T	uc001kjc.4	+	7	1431	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Silent_p.N317N|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	365					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGAACGGAAACGGATTCTACT	0.408													29	60					0	0	1	0	0	T	95556981	C	T	95556981	2	4	14	1	0	0	0	0	0	0	0	1	8751	535	19	1		1	LGI1	10	95556981	Silent	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08	22923812	95556981	39977766	11	330											
AMPD3	272	broad.mit.edu	37	chr11	10518462	10518462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaacccccaagatcatcgaGagcttcacctcttccttaaa	4	15	4	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr11:10518462G>A	uc001min.1	+	9	1906	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	AMPD3_uc010rbz.1_Missense_Mutation_p.E353K|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.E512K|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.E519K|AMPD3_uc009yfy.2_Missense_Mutation_p.E512K	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	512					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGATCATCGAGAGCTTCACCT	0.512													7	159					0	0	1	0	0	A	10518462	G	A	10518462	3	1	14	1	0	0	0	0	1	0	0	0	587	943	33	2	1619	2	AMPD3	11	10518462	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		10518462	124488054	12	331											
LRP1	4035	broad.mit.edu	37	chr12	57581169	57581169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacccgcccaggggccttcGagcgtgagaccgtcatcact	12	15	2	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr12:57581169G>A	uc001snd.3	+	41	7427	c.6961G>A	c.(6961-6963)Gag>Aag	p.E2321K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2321					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGGGCCTTCGAGCGTGAGAC	0.607													3	44					0	0	1	0	0	A	57581169	G	A	57581169	3	1	14	1	0	0	0	0	1	0	0	0	8951	1059	37	1	7127	1	LRP1	12	57581169	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		57581169	76270726	13	332											
OR11G2	390439	broad.mit.edu	37	chr14	20666455	20666455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttttattctgttgttaccCcactgcttaaccctgtgata	6	10	1	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr14:20666455C>T	uc010tlb.2	+	0	961	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P321Q(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		tgttgttaccccactgcttaa	0.398													35	102					0	0	1	0	0	T	20666455	C	T	20666455	3	4	14	1	0	0	0	0	1	0	0	0	10925	623	22	2	963	2	OR11G2	14	20666455	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		20666455	86683085	14	333											
MEGF11	84465	broad.mit.edu	37	chr15	66207904	66207904	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgcactcacatagctgctGacacccatagccaaaggttc	7	14	1	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr15:66207904G>A	uc002apm.2	-	18	2518	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*	MEGF11_uc002apl.2_Nonsense_Mutation_p.Q718*|MEGF11_uc002apn.1_Nonsense_Mutation_p.Q793*	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	793	EGF-like 14.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CATAGCTGCTGACACCCATAG	0.537													5	24					0	0	1	0	0	A	66207904	G	A	66207904	4	1	14	1	0	0	0	0	0	1	0	0	9461	1299	45	2	777	2	MEGF11	15	66207904	Nonsense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		66207904	36323488	15	334											
ADCY9	115	broad.mit.edu	37	chr16	4164528	4164528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggaaggtgctcctggAcctcacctgggacatgacga	13	11	1	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr16:4164528A>C	uc002cvx.3	-	1	1455	c.916T>G	c.(916-918)Tcc>Gcc	p.S306A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	306					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGCTCCTGGACCTCACCTGG	0.612													14	84					0	0	1	0	0	C	4164528	A	C	4164528	3	2	14	1	0	0	0	0	1	0	0	0	301	275	10	5	3185	5	ADCY9	16	4164528	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		4164528	86190225	16	335											
BECN1	8678	broad.mit.edu	37	chr17	40967972	40967972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttggttttcttcagcttatCcagctgcgtctgggcataac	10	10	3	0			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:40967972C>A	uc002ibo.3	-	7	919	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	BECN1_uc010whb.1_Missense_Mutation_p.D175Y|BECN1_uc010whc.1_Missense_Mutation_p.D186Y|BECN1_uc002ibn.2_Missense_Mutation_p.D262Y	NM_003766	NP_003757	Q14457	BECN1_HUMAN	Homo sapiens beclin 1, autophagy related (BECN1), mRNA.	262					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTCAGCTTATCCAGCTGCGTC	0.458													8	168					0	0	1	0	0	A	40967972	C	A	40967972	3	1	14	1	0	0	0	0	1	0	0	0	1396	855	30	4	588	4	BECN1	17	40967972	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		40967972	40227238	17	336											
MAP3K3	4215	broad.mit.edu	37	chr17	61759173	61759173	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccccctggctatgttcctGagcggcagcagcacattgcc	10	16	0	1			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:61759173G>A	uc002jbe.3	+	8	709	c.643G>A	c.(643-645)Gag>Aag	p.E215K	MAP3K3_uc002jbf.3_Missense_Mutation_p.E215K|MAP3K3_uc002jbg.3_Missense_Mutation_p.E184K|MAP3K3_uc002jbh.3_Missense_Mutation_p.E215K|MAP3K3_uc010wpo.2_Missense_Mutation_p.E99K|MAP3K3_uc010wpp.2_Missense_Mutation_p.E184K	NM_203351	NP_976226	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA.	184					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.L214L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTATGTTCCTGAGCGGCAGCA	0.602													14	110					0	0	1	0	0	A	61759173	G	A	61759173	3	1	14	1	0	0	0	0	1	0	0	0	9251	1291	45	2	673	2	MAP3K3	17	61759173	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	20791201	61759173	19436037	18	337											
CASKIN2	57513	broad.mit.edu	37	chr17	73501926	73501926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagctgcttgatttcccGgctggcctgggaggtggtga	16	9	0	2			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:73501926G>A	uc002joc.3	-	8	1361	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	CASKIN2_uc010wsc.2_Missense_Mutation_p.R189W|CASKIN2_uc002jod.3_Missense_Mutation_p.R271W	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	271						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGATTTCCCGGCTGGCCTGG	0.622													3	37					0	0	1	0	0	A	73501926	G	A	73501926	3	1	14	1	0	0	0	0	1	0	0	0	2667	1115	39	1	2845	1	CASKIN2	17	73501926	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	11742753	73501926	7693284	19	338											
KCNK6	9424	broad.mit.edu	37	chr19	38810844	38810844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacgcttcggggtccgccaAcgcctcggaccccgcctggg	13	17	0	0			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr19:38810844A>G	uc002oic.3	+	0	361	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	85						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGGTCCGCCAACGCCTCGGAC	0.706													4	29					0	0	1	0	0	G	38810844	A	G	38810844	3	3	14	1	0	0	0	0	1	0	0	0	8070	43	2	3	256	3	KCNK6	19	38810844	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		38810844	20318139	20	339											
LMTK3	114783	broad.mit.edu	37	chr19	49001922	49001922	+	Frame_Shift_Del	DEL	A	A	-													tgggaaggctccctctggggAaaaaggggtctcggtctcgt							TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr19:49001922delA	uc002pjk.3	-	11	2491	c.2491delT	c.(2491-2493)tccfs	p.S831fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCTCTGGGGAAAAAGGGGTC	0.766													2	4	---	---	---	---						-	49001922	A	-	49001922	7	5	14	1	0	1	0	1	0	0	0	0	8860	246	9	0	1998	0	LMTK3	19	49001922	Frame_Shift_Del	DEL	A	TCGA-BJ-A18Z-01A-21D-A13W-08	10191078	49001922	10127061	21	340											
GPR173	54328	broad.mit.edu	37	chrX	53106066	53106066	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgtgcgccacggctcttCatggaccttcagtgcactca	9	14	5	0			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chrX:53106066C>T	uc004dru.3	+	1	521	c.263C>T	c.(262-264)tCa>tTa	p.S88L	GPR173_uc022bxc.1_Missense_Mutation_p.S88L	NM_018969	NP_061842	Q9NS66	GP173_HUMAN	Homo sapiens G protein-coupled receptor 173 (GPR173), mRNA.	88						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CACGGCTCTTCATGGACCTTC	0.577													4	74					0	0	1	0	0	T	53106066	C	T	53106066	3	4	14	1	0	0	0	0	1	0	0	0	6671	838	29	2	265	2	GPR173	23	53106066	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		53106066	102164494	22	341											
NDUFS5	4725	broad.mit.edu	37	chr1	39494585	39494586	+	Frame_Shift_Ins	INS	-	-	TA													agatagaatatgatgatttcINSgtagagtgtttgcttcggca							TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr1:39494585_39494586insTA	uc001ccx.3	+	1	299_300	c.189_190insTA	c.(187-192)ttcgtafs	p.F63fs	NDUFS5_uc001ccy.3_Frame_Shift_Ins_p.F63fs	NM_004552	NP_004543	O43920	NDUS5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) (NDUFS5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.D62Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	ATGATGATTTCGTAGAGTGTTT	0.396													69	72	---	---	---	---						TA	39494586	-	TA	39494585	7	5	15	1	0	1	1	0	0	0	0	0	10295	883	31	0	191	0	NDUFS5	1	39494585	Frame_Shift_Ins	INS	-	TCGA-BJ-A191-01A-11D-A13W-08		39494585	209756036	1	342											
PDCD1	5133	broad.mit.edu	37	chr2	242794494	242794494	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggtgggctgtgggcacttCtgcccttctctctggaaggg	17	10	3	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr2:242794494C>T	uc002wcq.4	-	2	516	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	PDCD1_uc010fzs.3_Intron|PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	150					T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTGGGCACTTCTGCCCTTCTC	0.677													9	21					0	0	1	0	0	T	242794494	C	T	242794494	3	4	15	1	0	0	0	0	1	0	0	0	11615	922	32	2	430	2	PDCD1	2	242794494	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		242794494	404879	2	343											
LSAMP	4045	broad.mit.edu	37	chr3	115561414	115561414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctcttggattctgtgaTagtgggaggatctgtaggaa	14	4	3	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr3:115561414T>C	uc011bis.2	-	4	1168	c.661A>G	c.(661-663)Atc>Gtc	p.I221V	LSAMP_uc003ebs.3_Missense_Mutation_p.I221V	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	221	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GATTCTGTGATAGTGGGAGGA	0.493													13	19					0	0	1	0	0	C	115561414	T	C	115561414	3	2	15	1	0	0	0	0	1	0	0	0	9048	1406	49	3	367	3	LSAMP	3	115561414	Missense_Mutation	SNP	T	TCGA-BJ-A191-01A-11D-A13W-08		115561414	82461016	3	344											
TMEM66	51669	broad.mit.edu	37	chr8	29927254	29927254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggatactcagagtacggtgGaggagaatactgcccgtcac	13	9	2	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:29927254G>T	uc003xhs.3	-	2	788	c.604C>A	c.(604-606)Cca>Aca	p.P202T	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.P30T	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	202						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GAGTACGGTGGAGGAGAATAC	0.488													32	83					0	0	1	0	0	T	29927254	G	T	29927254	3	4	15	1	0	0	0	0	1	0	0	0	16192	1174	41	4	431	4	TMEM66	8	29927254	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		29927254	116436768	4	345											
RIMS2	9699	broad.mit.edu	37	chr8	105261014	105261014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgctcagctagtgggaCgccagactctggcaacacct	11	15	2	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:105261014C>T	uc003yls.3	+	24	3857	c.3616C>T	c.(3616-3618)Cgc>Tgc	p.R1206C	RIMS2_uc003ylp.3_Missense_Mutation_p.R1188C|RIMS2_uc003ylw.2_Missense_Mutation_p.R1195C|RIMS2_uc003ylq.3_Missense_Mutation_p.R1002C|RIMS2_uc003ylr.3_Missense_Mutation_p.R1027C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1250					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCTAGTGGGACGCCAGACTCT	0.428										HNSCC(12;0.0054)			17	30					0	0	1	0	0	T	105261014	C	T	105261014	3	4	15	1	0	0	0	0	1	0	0	0	13368	536	19	1	3840	1	RIMS2	8	105261014	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	75333760	105261014	41103008	5	346											
FREM1	158326	broad.mit.edu	37	chr9	14759843	14759843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcaacaaacccacattcTcacagacttcatattcggtc	6	13	2	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr9:14759843T>C	uc003zlm.3	-	28	6077	c.5261A>G	c.(5260-5262)gAg>gGg	p.E1754G	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.E290G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1754	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCCACATTCTCACAGACTTC	0.388													20	29					0	0	1	0	0	C	14759843	T	C	14759843	3	2	15	1	0	0	0	0	1	0	0	0	6044	1551	54	3	1318	3	FREM1	9	14759843	Missense_Mutation	SNP	T	TCGA-BJ-A191-01A-11D-A13W-08		14759843	126453588	6	347											
ZNF618	114991	broad.mit.edu	37	chr9	116811046	116811046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcactgagcgtggtcagCgggaaggagttcctgaagtt	17	7	1	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr9:116811046C>T	uc004bid.3	+	14	1563	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	ZNF618_uc004bic.3_Silent_p.S395S|ZNF618_uc011lxi.2_Silent_p.S455S|ZNF618_uc011lxj.2_Silent_p.S456S|ZNF618_uc010mvb.3_Silent_p.S78S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCGTGGTCAGCGGGAAGGAGT	0.582													33	67					0	0	1	0	0	T	116811046	C	T	116811046	2	4	15	1	0	0	0	0	0	0	0	1	18039	767	27	1		1	ZNF618	9	116811046	Silent	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	102051203	116811046	24402385	7	348											
PLXDC2	84898	broad.mit.edu	37	chr10	20500614	20500614	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaagatgttccagtggatttGatcgtcatcggcaggactgg	14	7	1	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr10:20500614G>C	uc001iqg.1	+	9	1715	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	PLXDC2_uc001iqh.1_Missense_Mutation_p.D311H|PLXDC2_uc009xkc.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	360	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAGTGGATTTGATCGTCATCG	0.443													4	6					0	0	1	0	0	C	20500614	G	C	20500614	3	2	15	1	0	0	0	0	1	0	0	0	12118	1290	45	4	1116	4	PLXDC2	10	20500614	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		20500614	115034133	8	349											
RIC3	79608	broad.mit.edu	37	chr11	8190434	8190434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaggtgtcggcggcggctCctgccgcttcccgcgggaca	15	15	1	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr11:8190434C>T	uc010rbm.1	-	0	157	c.103G>A	c.(103-105)Gag>Aag	p.E35K	RIC3_uc010rbl.1_5'UTR|RIC3_uc001mgd.2_Missense_Mutation_p.E35K|RIC3_uc001mgc.2_Missense_Mutation_p.E35K|RIC3_uc009yfm.2_Missense_Mutation_p.E35K|RIC3_uc001mge.2_Missense_Mutation_p.E35K|RIC3_uc009yfn.2_5'UTR|RIC3_uc001mgf.4_Missense_Mutation_p.E35K	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	35						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GGCGGCGGCTCCTGCCGCTTC	0.657													6	7					0	0	1	0	0	T	8190434	C	T	8190434	3	4	15	1	0	0	0	0	1	0	0	0	13354	864	30	2	1027	2	RIC3	11	8190434	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		8190434	126816082	9	350											
ACAD10	80724	broad.mit.edu	37	chr12	112182761	112182761	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcacttcatggagcaaCgtgtgtaccctgcagagcca	11	11	1	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr12:112182761C>G	uc009zvx.3	+	13	2322	c.2122C>G	c.(2122-2124)Cgt>Ggt	p.R708G	ACAD10_uc001tsp.3_Missense_Mutation_p.R677G|ACAD10_uc001tsq.3_Missense_Mutation_p.R677G|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	677							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CATGGAGCAACGTGTGTACCC	0.582													57	48					0	0	1	0	0	G	112182761	C	G	112182761	3	3	15	1	0	0	0	0	1	0	0	0	108	536	19	4	2172	4	ACAD10	12	112182761	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		112182761	21669134	10	351											
TSC22D1	8848	broad.mit.edu	37	chr13	45149845	45149845	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgttagagctgatactagcGgagatctgagcaggagtaac	13	6	1	4			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr13:45149845G>C	uc001uzn.4	-	0	857	c.366C>G	c.(364-366)tcC>tcG	p.S122S	TSC22D1_uc001uzo.2_Silent_p.S122S|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	122					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.S122S(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGATACTAGCGGAGATCTGAG	0.493													127	151					0	0	1	0	0	C	45149845	G	C	45149845	2	2	15	1	0	0	0	0	0	0	0	1	16604	1103	39	4		4	TSC22D1	13	45149845	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		45149845	70020033	11	352											
ABHD4	63874	broad.mit.edu	37	chr14	23075421	23075421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagagtatatttaccactGcaacgcacagaatcccaggt	7	11	1	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:23075421G>A	uc001wgm.3	+	4	803	c.734G>A	c.(733-735)tGc>tAc	p.C245Y	ABHD4_uc010tna.1_Missense_Mutation_p.A272T|ABHD4_uc010tnb.2_Non-coding_Transcript	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	245					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		ATTTACCACTGCAACGCACAG	0.522													13	10					0	0	1	0	0	A	23075421	G	A	23075421	3	1	15	1	0	0	0	0	1	0	0	0	84	1319	46	2	752	2	ABHD4	14	23075421	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		23075421	84274119	12	353											
DAAM1	23002	broad.mit.edu	37	chr14	59789679	59789679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctaaagaccatggactaCgagacctcagagtctcgaat	8	10	3	3			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:59789679C>T	uc001xdz.1	+	5	635	c.510C>T	c.(508-510)taC>taT	p.Y170Y	DAAM1_uc001xea.1_Silent_p.Y170Y|DAAM1_uc001xeb.1_Silent_p.Y170Y	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	170	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCATGGACTACGAGACCTCAG	0.448													58	67					0	0	1	0	0	T	59789679	C	T	59789679	2	4	15	1	0	0	0	0	0	0	0	1	4215	547	19	1		1	DAAM1	14	59789679	Silent	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	36714258	59789679	47559861	13	354											
STON2	85439	broad.mit.edu	37	chr14	81744032	81744032	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggtcctgaactgcatggatGaaactcaggaagtcatcgta	11	9	2	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:81744032G>A	uc001xvk.1	-	5	2036	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	STON2_uc010tvu.2_Silent_p.F541F|STON2_uc010tvt.2_Silent_p.F338F	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	541	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CTGCATGGATGAAACTCAGGA	0.498													50	66					0	0	1	0	0	A	81744032	G	A	81744032	2	1	15	1	0	0	0	0	0	0	0	1	15317	1281	45	2		2	STON2	14	81744032	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08	21954353	81744032	25605508	14	355											
BTBD7	55727	broad.mit.edu	37	chr14	93723588	93723588	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtaagatgtgttcaattcGcacaaaaggtaagagagaag	12	4	1	3			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:93723588G>C	uc001ybo.3	-	5	1887	c.1561C>G	c.(1561-1563)Cga>Gga	p.R521G	BTBD7_uc010aur.3_Missense_Mutation_p.R46G|BTBD7_uc010two.2_Missense_Mutation_p.R341G|BTBD7_uc001ybp.3_Missense_Mutation_p.R170G|BTBD7_uc001ybq.4_Missense_Mutation_p.R436G	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	521								p.R521L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTTCAATTCGCACAAAAGGT	0.408													55	75					0	0	1	0	0	C	93723588	G	C	93723588	3	2	15	1	0	0	0	0	1	0	0	0	1546	1095	38	4	1861	4	BTBD7	14	93723588	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08	11979556	93723588	13625952	15	356											
TECPR2	9895	broad.mit.edu	37	chr14	102873742	102873742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacctggtggcagcaggcaCagcctctggcagggttgcag	16	11	1	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:102873742C>T	uc001ylw.2	+	2	513	c.287C>T	c.(286-288)aCa>aTa	p.T96I	TECPR2_uc010txw.2_Missense_Mutation_p.T96I|TECPR2_uc010awl.3_Missense_Mutation_p.T96I|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	96							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCAGCAGGCACAGCCTCTGGC	0.463													54	36					0	0	1	0	0	T	102873742	C	T	102873742	3	4	15	1	0	0	0	0	1	0	0	0	15741	478	17	2	293	2	TECPR2	14	102873742	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	9150154	102873742	4475798	16	357											
NUP93	9688	broad.mit.edu	37	chr16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccttcagcaagctgaaCagcttgctgctgagactgag	11	11	1	3			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr16:56782202C>T	uc002eka.3	+	1	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*		NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	15					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.E14K(3)|p.Q15*(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517													31	74					0	0	1	0	0	T	56782202	C	T	56782202	4	4	15	1	0	0	0	0	0	1	0	0	10772	479	17	2	45	2	NUP93	16	56782202	Nonsense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		56782202	33572551	17	358											
NCOR1	9611	broad.mit.edu	37	chr17	15983374	15983374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttgtatggctcctgcGgtacctgaatacaaacaaag	8	11	1	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:15983374G>A	uc002gpo.3	-	25	3674	c.3405C>T	c.(3403-3405)acC>acT	p.T1135T	NCOR1_uc002gpn.3_Silent_p.T1151T|NCOR1_uc002gpp.1_Silent_p.T1042T|NCOR1_uc010vwb.2_5'UTR|NCOR1_uc010coy.3_Silent_p.T43T|NCOR1_uc010vwc.2_5'UTR	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1135	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGCTCCTGCGGTACCTGAAT	0.463													28	29					0	0	1	0	0	A	15983374	G	A	15983374	2	1	15	1	0	0	0	0	0	0	0	1	10235	1103	39	1		1	NCOR1	17	15983374	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		15983374	65211836	18	359											
CCL13	6357	broad.mit.edu	37	chr17	32683581	32683581	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgcttctgtgcctgctgctCatgacagcagctttcaaccc	9	14	3	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:32683581C>G	uc002hic.3	+	0	111	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_005408	NP_005399	Q99616	CCL13_HUMAN	Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA.	12					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				GCCTGCTGCTCATGACAGCAG	0.502													22	26					0	0	1	0	0	G	32683581	C	G	32683581	2	3	15	1	0	0	0	0	0	0	0	1	2884	813	29	4		4	CCL13	17	32683581	Silent	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	16700207	32683581	48511629	19	360											
NPEPPS	9520	broad.mit.edu	37	chr17	45608849	45608849	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctgccgatgtctcccccatCaactacagcctttgcctcaa	5	18	3	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:45608849C>G	uc002ilr.4	+	0	406	c.183C>G	c.(181-183)atC>atG	p.I61M	NPEPPS_uc010wkt.2_Missense_Mutation_p.I57M|NPEPPS_uc010wku.2_Missense_Mutation_p.I61M	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	61					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCTCCCCCATCAACTACAGCC	0.687													7	8					0	0	1	0	0	G	45608849	C	G	45608849	3	3	15	1	0	0	0	0	1	0	0	0	10575	816	29	4	185	4	NPEPPS	17	45608849	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	12925268	45608849	35586361	20	361											
ALPK2	115701	broad.mit.edu	37	chr18	56204584	56204584	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggattgttctcagaagaaagGagctgtgtttcatcaagccc	11	8	3	2			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr18:56204584G>C	uc002lhj.4	-	4	3049	c.2835C>G	c.(2833-2835)ctC>ctG	p.L945L	ALPK2_uc002lhk.1_Silent_p.L276L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	945							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGAAGAAAGGAGCTGTGTTT	0.532													15	11					0	0	1	0	0	C	56204584	G	C	56204584	2	2	15	1	0	0	0	0	0	0	0	1	545	1161	41	4		4	ALPK2	18	56204584	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		56204584	21872664	21	362											
CELF5	60680	broad.mit.edu	37	chr19	3282183	3282183	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctacctgagtcccggcgtGgccttctcaccctgtcacat	9	16	2	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr19:3282183G>C	uc002lxm.3	+	6	847	c.810G>C	c.(808-810)gtG>gtC	p.V270V	CELF5_uc010dtj.2_Silent_p.V270V|CELF5_uc002lxl.2_Silent_p.V270V|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	270					mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GTCCCGGCGTGGCCTTCTCAC	0.622													64	118					0	0	1	0	0	C	3282183	G	C	3282183	2	2	15	1	0	0	0	0	0	0	0	1	3219	1335	47	4		4	CELF5	19	3282183	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		3282183	55846800	22	363											
NPBWR2	2832	broad.mit.edu	37	chr20	62737969	62737969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgtcttcatcttgggcgcCcttaggattacaaggatgac	10	11	3	1			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr20:62737969C>A	uc011abt.2	-	0	216	c.216G>T	c.(214-216)agG>agT	p.R72S		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	72						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TCTTGGGCGCCCTTAGGATTA	0.617													33	25					0	0	1	0	0	A	62737969	C	A	62737969	3	1	15	1	0	0	0	0	1	0	0	0	10569	622	22	4	788	4	NPBWR2	20	62737969	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		62737969	287551	23	364											
IL17REL	400935	broad.mit.edu	37	chr22	50436654	50436654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggctcacatggccactcAcagggcaggcgggctcccag	13	15	2	0			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr22:50436654A>G	uc003bje.1	-	9	918	c.686T>C	c.(685-687)gTg>gCg	p.V229A		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	229										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGGCCACTCACAGGGCAGGC	0.677													3	78					0	0	1	0	0	G	50436654	A	G	50436654	3	3	15	1	0	0	0	0	1	0	0	0	7644	159	6	3	344	3	IL17REL	22	50436654	Missense_Mutation	SNP	A	TCGA-BJ-A191-01A-11D-A13W-08		50436654	867912	24	365											
GNAT1	2779	broad.mit.edu	37	chr3	50230803	50230803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgtacgcgccatgacCacactcaacatccagtacgg	8	16	1	1			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr3:50230803C>T	uc003cym.2	+	2	371	c.255C>T	c.(253-255)acC>acT	p.T85T	GNAT1_uc003cyl.2_Silent_p.T85T	NM_144499	NP_653082	P11488	GNAT1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA.	85					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGCCATGACCACACTCAACA	0.637													8	31					0	0	1	0	0	T	50230803	C	T	50230803	2	4	16	1	0	0	0	0	0	0	0	1	6511	581	21	2		2	GNAT1	3	50230803	Silent	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		50230803	147791627	1	366											
CDH12	1010	broad.mit.edu	37	chr5	21842341	21842341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattgttgttccggctaatCctccaagctgtcctcccata	6	14	0	0			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr5:21842341C>T	uc010iuc.2	-	4	1201	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CDH12_uc011cno.1_Missense_Mutation_p.G208E|CDH12_uc003jgk.2_Missense_Mutation_p.G248E	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	248	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCGGCTAATCCTCCAAGCTG	0.423										HNSCC(59;0.17)			9	163					0	0	1	0	0	T	21842341	C	T	21842341	3	4	16	1	0	0	0	0	1	0	0	0	3098	855	30	2	1673	2	CDH12	5	21842341	Missense_Mutation	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		21842341	159072919	2	367											
ABP1	26	broad.mit.edu	37	chr7	150554081	150554081	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccacaggcttctcattcCaagactgccatgacagatgc	7	13	1	3			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr7:150554081C>T	uc003wia.1	+	1	613	c.523C>T	c.(523-525)Caa>Taa	p.Q175*	ABP1_uc003why.1_Nonsense_Mutation_p.Q175*|ABP1_uc003whz.1_Nonsense_Mutation_p.Q175*	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	175					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTTCTCATTCCAAGACTGCCA	0.582													40	111					0	0	1	0	0	T	150554081	C	T	150554081	4	4	16	1	0	0	0	0	0	1	0	0	98	595	21	2	525	2	ABP1	7	150554081	Nonsense_Mutation	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		150554081	8584582	3	368											
MSI1	4440	broad.mit.edu	37	chr12	120805884	120805884	+	Frame_Shift_Del	DEL	A	A	-													cctggtccatgaaagtgacgAagccgaaacccctgcgcgcc							TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr12:120805884delA	uc001tye.1	-	3	258	c.194delT	c.(193-195)ttcfs	p.F65fs		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	65	RRM 1.				nervous system development	cytoplasm|nucleus	nucleotide binding	p.F65F(1)		breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAAGTGACGAAGCCGAAACC	0.657													9	11	---	---	---	---						-	120805884	A	-	120805884	7	5	16	1	0	1	0	1	0	0	0	0	9875	246	9	0	938	0	MSI1	12	120805884	Frame_Shift_Del	DEL	A	TCGA-BJ-A192-01A-31D-A13W-08		120805884	13046011	4	369											
ERAL1	26284	broad.mit.edu	37	chr17	27182067	27182067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtaatggctgcccccagCtggcgcggggctaggcttgt	16	12	0	0			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr17:27182067C>T	uc002hcy.1	+	0	25	c.15C>T	c.(13-15)agC>agT	p.S5S	ERAL1_uc002hcx.1_Silent_p.S5S|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	5					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTGCCCCCAGCTGGCGCGGGG	0.612													5	26					0	0	1	0	0	T	27182067	C	T	27182067	2	4	16	1	0	0	0	0	0	0	0	1	5202	796	28	2		2	ERAL1	17	27182067	Silent	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		27182067	54013143	5	370											
KEAP1	9817	broad.mit.edu	37	chr19	10600426	10600426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtttgtcccgtcaaagcCccccacggcataaaggagac	11	14	1	1			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:10600426C>T	uc002moq.1	-	3	1585	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	KEAP1_uc002mop.1_Missense_Mutation_p.G195S|KEAP1_uc002mor.1_Missense_Mutation_p.G477S	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCGTCAAAGCCCCCCACGGCA	0.577													12	8					0	0	1	0	0	T	10600426	C	T	10600426	3	4	16	1	0	0	0	0	1	0	0	0	8141	623	22	2	457	2	KEAP1	19	10600426	Missense_Mutation	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		10600426	48528557	6	371											
NFKBID	84807	broad.mit.edu	37	chr19	36387021	36387021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatggccgtgtggagcGgggtgaggcctgcagaatgg	20	8	0	2			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:36387021G>A	uc002oci.1	-	8	1041	c.467C>T	c.(466-468)cCg>cTg	p.P156L	NFKBID_uc002och.1_5'UTR	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta (NFKBID), mRNA.	156					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CGTGTGGAGCGGGGTGAGGCC	0.647													9	75					0	0	1	0	0	A	36387021	G	A	36387021	3	1	16	1	0	0	0	0	1	0	0	0	10379	1116	39	1	490	1	NFKBID	19	36387021	Missense_Mutation	SNP	G	TCGA-BJ-A192-01A-31D-A13W-08	25786595	36387021	22741962	7	372											
LGALS13	29124	broad.mit.edu	37	chr19	40095966	40095966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggagacaacagactacGtgccctttgaggatggcaaa	13	8	0	3			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:40095966G>A	uc002omb.3	+	2	281	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	81	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			AACAGACTACGTGCCCTTTGA	0.493													31	47					0	0	1	0	0	A	40095966	G	A	40095966	3	1	16	1	0	0	0	0	1	0	0	0	8740	1145	40	1	251	1	LGALS13	19	40095966	Missense_Mutation	SNP	G	TCGA-BJ-A192-01A-31D-A13W-08	3708945	40095966	19033017	8	373											
SNX27	81609	broad.mit.edu	37	chr1	151584734	151584735	+	In_Frame_Ins	INS	-	-	GGC													cccctcacaggaacggaggtINSggcggcggcggcggggggtc							TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:151584734_151584735insGGC	uc001eyn.1	+	0	73_74	c.57_58insGGC	c.(55-60)insGGC	p.25_26insG		NM_030918	NP_112180	Q96L92	SNX27_HUMAN	Homo sapiens sorting nexin family member 27 (SNX27), mRNA.	25					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAcggaggtggcggcggcgg	0.738													7	2	---	---	---	---						GGC	151584735	-	GGC	151584734	7	5	17	1	0	1	1	0	0	0	0	0	14897	1683	59	0	59	0	SNX27	1	151584734	In_Frame_Ins	INS	-	TCGA-BJ-A28R-01A-11D-A16O-08		151584734	97665887	1	374											
TPM3	7170	broad.mit.edu	37	chr1	154145568	154145568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcacttacctcttcatActtcctatctgcctcttctg	4	14	6	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:154145568A>G	uc001fec.1	-	3	602	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.Y36H|TPM3_uc001fdy.1_Missense_Mutation_p.Y126H|TPM3_uc001fdz.1_Missense_Mutation_p.Y126H|TPM3_uc001fea.1_Missense_Mutation_p.Y126H|TPM3_uc001feb.1_Missense_Mutation_p.Y126H|TPM3_uc010pej.1_Missense_Mutation_p.Y59H|TPM3_uc001fed.1_Missense_Mutation_p.Y126H	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	162					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACCTCTTCATACTTCCTATCT	0.428			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								47	89					0	0	1	0	0	G	154145568	A	G	154145568	3	3	17	1	0	0	0	0	1	0	0	0	16404	391	14	3	649	3	TPM3	1	154145568	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08	2560834	154145568	95105053	2	375											
XPR1	9213	broad.mit.edu	37	chr1	180651511	180651511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggctttcaaggatatgCtgtattcagctcaggaccag	10	8	3	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:180651511C>T	uc001goi.3	+	1	277	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	XPR1_uc009wxm.2_Silent_p.L29L|XPR1_uc009wxn.3_Silent_p.L29L	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	29	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328													5	173					0	0	1	0	0	T	180651511	C	T	180651511	2	4	17	1	0	0	0	0	0	0	0	1	17448	796	28	2		2	XPR1	1	180651511	Silent	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	26505943	180651511	68599110	3	376											
SCN10A	6336	broad.mit.edu	37	chr3	38755465	38755465	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttacccgcatgccttcaaatCgagaaagagcccgcagtggc	10	13	1	2			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:38755465C>G	uc003ciq.3	-	20	3788	c.3788G>C	c.(3787-3789)cGa>cCa	p.R1263P		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1263					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCTTCAAATCGAGAAAGAGC	0.537													8	86					0	0	1	0	0	G	38755465	C	G	38755465	3	3	17	1	0	0	0	0	1	0	0	0	13912	884	31	4	2110	4	SCN10A	3	38755465	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		38755465	159266965	4	377											
YEATS2	55689	broad.mit.edu	37	chr3	183518272	183518272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagactgaaccagaaaCacctggaccgagttgcctct	10	11	1	4			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:183518272C>T	uc003fly.2	+	23	3539	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1115					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACCAGAAACACCTGGACCG	0.473													16	51					0	0	1	0	0	T	183518272	C	T	183518272	3	4	17	1	0	0	0	0	1	0	0	0	17469	478	17	2	3434	2	YEATS2	3	183518272	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	144762807	183518272	14504158	5	378											
PRSS12	8492	broad.mit.edu	37	chr4	119229634	119229634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgcatccttatcagTccatccatcatcacagattg	5	14	3	1			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr4:119229634T>C	uc003ica.2	-	7	1635	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	530	SRCR 4.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCTTATCAGTCCATCCATCA	0.408													3	124					0	0	1	0	0	C	119229634	T	C	119229634	3	2	17	1	0	0	0	0	1	0	0	0	12615	1667	58	3	1063	3	PRSS12	4	119229634	Missense_Mutation	SNP	T	TCGA-BJ-A28R-01A-11D-A16O-08		119229634	71924642	6	379											
ARID1B	57492	broad.mit.edu	37	chr6	157525128	157525128	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctactttcaatctctccCaggtaagccagcatagtcca	6	13	2	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr6:157525128C>A	uc003qqn.3	+	18	5143	c.5143C>A	c.(5143-5145)Cag>Aag	p.Q1715K	ARID1B_uc003qqo.3_Missense_Mutation_p.Q1675K|ARID1B_uc003qqp.3_Missense_Mutation_p.Q1662K	NM_020732	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.	1662					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATCTCTCCCAGGTAAGCCA	0.438													6	395					0	0	1	0	0	A	157525128	C	A	157525128	3	1	17	1	0	0	0	0	1	0	0	0	914	595	21	4	5097	4	ARID1B	6	157525128	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		157525128	13589939	7	380											
CCDC129	223075	broad.mit.edu	37	chr7	31682443	31682443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagcatgtctttttcaAgccaagaagcgaatgccttg	12	9	2	1			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:31682443A>G	uc011kae.2	+	10	1549	c.1537A>G	c.(1537-1539)Agc>Ggc	p.S513G	CCDC129_uc011kad.1_Missense_Mutation_p.S497G|CCDC129_uc003tcj.1_Missense_Mutation_p.S487G|CCDC129_uc003tci.1_Missense_Mutation_p.S338G|CCDC129_uc003tck.1_Missense_Mutation_p.S395G	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	487										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTTTTTCAAGCCAAGAAGC	0.512													3	162					0	0	1	0	0	G	31682443	A	G	31682443	3	3	17	1	0	0	0	0	1	0	0	0	2764	72	3	3	1497	3	CCDC129	7	31682443	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08		31682443	127456220	8	381											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	58					0	0	1	0	0	T	140453136	A	T	140453136	3	4	17	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08	108770693	140453136	18685527	9	382											
KCNV2	169522	broad.mit.edu	37	chr9	2718675	2718675	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagatgctgtgcatgggcttCttcacgctcgagtacctgct	12	11	2	1			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:2718675C>T	uc003zho.2	+	0	1150	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	312						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCATGGGCTTCTTCACGCTCG	0.687													5	64					0	0	1	0	0	T	2718675	C	T	2718675	2	4	17	1	0	0	0	0	0	0	0	1	8095	912	32	2		2	KCNV2	9	2718675	Silent	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		2718675	138494756	10	383											
IFNE	338376	broad.mit.edu	37	chr9	21481080	21481080	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctccacctacctcgggcttCtaaactctgtagtaagctct	6	15	3	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:21481080C>G	uc003zpg.3	-	0	1233	c.614G>C	c.(613-615)aGa>aCa	p.R205T	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	205					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						CCTCGGGCTTCTAAACTCTGT	0.413													4	195					0	0	1	0	0	G	21481080	C	G	21481080	3	3	17	1	0	0	0	0	1	0	0	0	7547	913	32	4	16	4	IFNE	9	21481080	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	18762405	21481080	119732351	11	384											
DHTKD1	55526	broad.mit.edu	37	chr10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcgtgttctgctccgGcaaacatttctactccctgg	8	15	2	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr10:12160774G>A	uc001ild.4	+	14	2528	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	810					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.G810D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483													5	278					0	0	1	0	0	A	12160774	G	A	12160774	3	1	17	1	0	0	0	0	1	0	0	0	4500	1203	42	2	2487	2	DHTKD1	10	12160774	Missense_Mutation	SNP	G	TCGA-BJ-A28R-01A-11D-A16O-08		12160774	123373973	12	385											
PTPRO	5800	broad.mit.edu	37	chr12	15713197	15713197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgattatcttttggcatttTatattaatccttggtaagtg	7	5	1	1	rs150693746	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr12:15713197T>C	uc001rcv.2	+	16	3168	c.2698T>C	c.(2698-2700)Tat>Cat	p.Y900H	PTPRO_uc001rcw.2_Intron|PTPRO_uc001rcx.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcy.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcz.2_Intron|PTPRO_uc001rda.2_Intron	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	900						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTTGGCATTTTATATTAATCC	0.313													3	120					0	0	1	0	0	C	15713197	T	C	15713197	3	2	17	1	0	0	0	0	1	0	0	0	12809	1754	61	3	2764	3	PTPRO	12	15713197	Missense_Mutation	SNP	T	TCGA-BJ-A28R-01A-11D-A16O-08		15713197	118138698	13	386											
C16orf79	283870	broad.mit.edu	37	chr16	2260148	2260148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcccgtcgaacagcacCgcccagctgtggttgctctg	11	16	2	0			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:2260148C>T	uc010bsh.3	-	2	550	c.315G>A	c.(313-315)gcG>gcA	p.A105A	C16orf79_uc002cpi.2_Silent_p.A105A	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	105	BRICHOS.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						CGAACAGCACCGCCCAGCTGT	0.711													7	9					0	0	1	0	0	T	2260148	C	T	2260148	2	4	17	1	0	0	0	0	0	0	0	1	1836	639	23	1		1	C16orf79	16	2260148	Silent	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		2260148	88094605	14	387											
ATMIN	23300	broad.mit.edu	37	chr16	81078068	81078069	+	Missense_Mutation	DNP	AC	AC	TG													actcaaactgaagagagtgaActtagcaccatgaccaccga							TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:81078068_81078069AC>TG	uc002ffz.1	+	3	1983_1984	c.1965_1966AC>TG	c.(1963-1968)gaactt>gaTGtt	p.655_656EL>DV	ATMIN_uc002fga.2_Missense_Mutation_p.497_498EL>DV|ATMIN_uc010vnn.1_Missense_Mutation_p.426_427EL>DV|ATMIN_uc002fgb.1_Missense_Mutation_p.497_498EL>DV	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	655					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGAGAGTGAACTTAGCACCAT	0.505													6	106					0	0	1	0	0	TG	81078069	AC	TG	81078068	3	4	17	1	0	0	0	0	1	0	0	0	1110	40	2	5	1979	5	ATMIN	16	81078068	Missense_Mutation	DNP	AC	TCGA-BJ-A28R-01A-11D-A16O-08	78817920	81078068	9276685	15	388											
MBTPS1	8720	broad.mit.edu	37	chr16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagaagcaacactggtccctGagagggcccggcacccccct	12	16	0	2			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:84118642G>C	uc002fhi.3	-	9	1734	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	411	Serine protease.				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	p.S411*(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	64					0	0	1	0	0	C	84118642	G	C	84118642	4	2	17	1	0	0	0	0	0	1	0	0	9361	1294	45	4	1982	4	MBTPS1	16	84118642	Nonsense_Mutation	SNP	G	TCGA-BJ-A28R-01A-11D-A16O-08	3040574	84118642	6236111	16	389											
MEGF6	1953	broad.mit.edu	37	chr1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcgtagcagccgcactcgTacccgccagggttgttggtg	15	13	0	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:3427403T>C	uc001akl.3	-	9	1405	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_uc001akk.3_Missense_Mutation_p.Y288C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	393	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687													58	79					0	0	1	0	0	C	3427403	T	C	3427403	3	2	18	1	0	0	0	0	1	0	0	0	9462	1638	57	3	3559	3	MEGF6	1	3427403	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08		3427403	245823218	1	390											
EIF2C1	26523	broad.mit.edu	37	chr1	36381032	36381032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaagagatcattgaagaCttgtcctacatggtgcgtga	12	8	1	4			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:36381032C>T	uc001bzl.3	+	14	2130	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	EIF2C1_uc001bzk.3_Silent_p.D564D|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	639	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATTGAAGACTTGTCCTACA	0.547													20	142					0	0	1	0	0	T	36381032	C	T	36381032	2	4	18	1	0	0	0	0	0	0	0	1	5005	564	20	2		2	EIF2C1	1	36381032	Silent	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08	32953629	36381032	212869589	2	391											
RBM6	10180	broad.mit.edu	37	chr3	50004962	50004962	+	Frame_Shift_Del	DEL	T	T	-													ggattatcctcctcctccccTtaagagtcatgctcaagaga							TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:50004962delT	uc003cyc.3	+	2	352	c.104delT	c.(103-105)cttfs	p.L35fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	35					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTCCTCCCCTTAAGAGTCAT	0.483													72	107	---	---	---	---						-	50004962	T	-	50004962	7	5	18	1	0	1	0	1	0	0	0	0	13144	1609	56	0	110	0	RBM6	3	50004962	Frame_Shift_Del	DEL	T	TCGA-BJ-A28S-01A-11D-A19J-08		50004962	148017468	3	392											
ATR	545	broad.mit.edu	37	chr3	142268455	142268455	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttcctaaagttcgaatgaGagcagaagctgcagggcttg	12	7	0	2			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:142268455G>C	uc003eux.4	-	14	3159	c.3037C>G	c.(3037-3039)Ctc>Gtc	p.L1013V		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1013					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTCGAATGAGAGCAGAAGCT	0.343								Other conserved DNA damage response genes					27	50					0	0	1	0	0	C	142268455	G	C	142268455	3	2	18	1	0	0	0	0	1	0	0	0	1204	942	33	4	5029	4	ATR	3	142268455	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	92263493	142268455	55753975	4	393											
TNXB	7148	broad.mit.edu	37	chr6	32021216	32021216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggccaccgtggaagcCgtacaggttcatcttgtact	12	12	2	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:32021216C>A	uc003nzl.2	-	24	8936	c.8734G>T	c.(8734-8736)Ggc>Tgc	p.G2912C		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2961	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTGGAAGCCGTACAGGTTC	0.657													4	97					0	0	1	0	0	A	32021216	C	A	32021216	3	1	18	1	0	0	0	0	1	0	0	0	16343	652	23	4	6059	4	TNXB	6	32021216	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		32021216	139093851	5	394											
LAMA4	3910	broad.mit.edu	37	chr6	112479970	112479970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgttgaaggtcctgtGcatggtcaatagcttcttgg	11	8	3	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:112479970G>T	uc003pvu.2	-	13	2090	c.1781C>A	c.(1780-1782)gCa>gAa	p.A594E	LAMA4_uc003pvv.2_Missense_Mutation_p.A587E|LAMA4_uc003pvt.2_Missense_Mutation_p.A587E	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	594	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGGTCCTGTGCATGGTCAAT	0.343													45	74					0	0	1	0	0	T	112479970	G	T	112479970	3	4	18	1	0	0	0	0	1	0	0	0	8608	1319	46	4	3794	4	LAMA4	6	112479970	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	80458754	112479970	58635097	6	395											
SP4	6671	broad.mit.edu	37	chr7	21469309	21469309	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacaacttcagacagtggaaGgtcaacaaattcaaatcaat	6	9	4	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:21469309G>C	uc003sva.3	+	2	707	c.526G>C	c.(526-528)Ggt>Cgt	p.G176R	SP4_uc003svb.3_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	176					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GACAGTGGAAGGTCAACAAAT	0.388													6	110					0	0	1	0	0	C	21469309	G	C	21469309	3	2	18	1	0	0	0	0	1	0	0	0	14966	1000	35	4	536	4	SP4	7	21469309	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		21469309	137669354	7	396											
RABGEF1	27342	broad.mit.edu	37	chr7	66262494	66262494	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattcaaaagagaatcagGtagttgcttattttgttttg	9	5	2	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:66262494G>A	uc011kee.2	+	6	934	c.770_splice	c.e6+1	p.R257_splice	RABGEF1_uc003tvf.3_Splice_Site_p.R116_splice|RABGEF1_uc003tvg.3_Splice_Site_p.R51_splice|RABGEF1_uc003tvh.3_Splice_Site_p.R243_splice|RABGEF1_uc010lag.3_Splice_Site_p.R243_splice|RABGEF1_uc003tvi.3_Splice_Site_p.R77_splice	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	460					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAGAATCAGGTAGTTGCTTA	0.363													4	85					0	0	1	0	0	A	66262494	G	A	66262494	5	1	18	1	0	0	0	0	0	0	1	0	12966	1275	44	2	747	2	RABGEF1	7	66262494	Splice_Site	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	44793185	66262494	92876169	8	397											
BRAF	673	broad.mit.edu	37	chr7	140453140	140453193	+	Splice_Site	INS	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT													ctccatcgagatttcactgtINSagctagaccaaaatcaccta					rs121913370		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:140453140_140453193TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT>TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	uc003vwc.4	-	15	1803	c.1742_splice	c.e15-1	p.N581_splice		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594G(35)|p.L597R(14)|p.L597V(11)|p.D594N(9)|p.L597S(9)|p.N581S(9)|p.F595L(8)|p.L597Q(8)|p.A598_T599insV(6)|p.G596R(6)|p.E586E(4)|p.I592M(4)|p.F583F(4)|p.A598V(4)|p.L597L(3)|p.F595S(3)|p.D594V(3)|p.E586K(3)|p.L584L(3)|p.D594H(2)|p.D594E(2)|p.I592V(2)|p.G596D(2)|p.L584F(2)|p.I582M(2)|p.D587E(2)|p.D594D(1)|p.K591R(1)|p.N581I(1)|p.H585H(1)|p.G596fs*2(1)|p.D587N(1)|p.V590I(1)|p.D587A(1)|p.A598T(1)|p.G593D(1)|p.T589I(1)|p.V590fs*3(1)|p.L588R(1)|p.L588P(1)|p.V590V(1)|p.G593S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GATTTCACTGTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATCTGAGGTGTA	0.354	G596R(NCIH508_LARGE_INTESTINE)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	135	---	---	---	---						TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	140453193	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	140453140	8	5	18	1	0	1	1	0	0	0	1	0	1496	1638	57	0	521	0	BRAF	7	140453140	Splice_Site	INS	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TCGA-BJ-A28S-01A-11D-A19J-08	74190646	140453140	18685523	9	398											
C8orf34	116328	broad.mit.edu	37	chr8	69434071	69434071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctcttctgaggccccGtgtgattggagaatggattg	12	8	3	3			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr8:69434071G>A	uc010lyz.3	+	5	1094	c.803G>A	c.(802-804)cGt>cAt	p.R268H	C8orf34_uc010lyy.2_Missense_Mutation_p.R268H|C8orf34_uc003xyb.3_Missense_Mutation_p.R157H	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	182					signal transduction		cAMP-dependent protein kinase regulator activity	p.R157H(1)|p.R182H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTGAGGCCCCGTGTGATTGGA	0.413													28	44					0	0	1	0	0	A	69434071	G	A	69434071	3	1	18	1	0	0	0	0	1	0	0	0	2422	1145	40	1	488	1	C8orf34	8	69434071	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		69434071	76929951	10	399											
GALNT12	79695	broad.mit.edu	37	chr9	101589093	101589093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaggtgcgcctgatcCgcgccaacaagagagagggc	14	13	0	3			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr9:101589093C>A	uc004ayz.3	+	2	601	c.601C>A	c.(601-603)Cgc>Agc	p.R201S		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	201	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCGCCTGATCCGCGCCAACAA	0.627													3	40					0	0	1	0	0	A	101589093	C	A	101589093	3	1	18	1	0	0	0	0	1	0	0	0	6210	652	23	4	611	4	GALNT12	9	101589093	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		101589093	39624338	11	400											
SVIL	6840	broad.mit.edu	37	chr10	29773738	29773738	+	Frame_Shift_Del	DEL	C	C	-													catgccatacgtaaacttcaCtaccaaaatcaaacaccagt							TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:29773738delC	uc001iut.1	-	26	5555	c.4802delG	c.(4801-4803)agtfs	p.S1601fs	LOC387647_uc001iup.3_Non-coding_Transcript|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.S515fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.S1175fs|SVIL_uc009xlc.2_Frame_Shift_Del_p.S393fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1601	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.S1601S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTAAACTTCACTACCAAAATC	0.403													37	62	---	---	---	---						-	29773738	C	-	29773738	7	5	18	1	0	1	0	1	0	0	0	0	15418	565	20	0	1890	0	SVIL	10	29773738	Frame_Shift_Del	DEL	C	TCGA-BJ-A28S-01A-11D-A19J-08		29773738	105761009	12	401											
MYOF	26509	broad.mit.edu	37	chr10	95121253	95121253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcataagaccatgcatcaTcttcccattcccaacctgga	5	14	3	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:95121253T>C	uc001kin.3	-	27	3053	c.2930A>G	c.(2929-2931)gAt>gGt	p.D977G	MYOF_uc001kio.3_Missense_Mutation_p.D964G|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	977					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCATGCATCATCTTCCCATTC	0.458													73	107					0	0	1	0	0	C	95121253	T	C	95121253	3	2	18	1	0	0	0	0	1	0	0	0	10089	1435	50	3	3363	3	MYOF	10	95121253	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08	65347515	95121253	40413494	13	402											
CCKBR	887	broad.mit.edu	37	chr11	6292023	6292023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggtccgaaaccaaggCgggctgccaggtggggctgg	19	10	0	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:6292023C>T	uc001mcs.3	+	3	1056	c.801C>T	c.(799-801)ggC>ggT	p.G267G	CCKBR_uc001mcp.3_Silent_p.G267G|CCKBR_uc001mcq.3_Silent_p.G195G|CCKBR_uc001mcr.3_Silent_p.G267G|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	218					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.G267V(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAAACCAAGGCGGGCTGCCAG	0.632													5	73					0	0	1	0	0	T	6292023	C	T	6292023	2	4	18	1	0	0	0	0	0	0	0	1	2881	755	27	1		1	CCKBR	11	6292023	Silent	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		6292023	128714493	14	403											
FADS1	3992	broad.mit.edu	37	chr11	61570928	61570928	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaccagttgctttccagGaacctgttagatgtattaca	7	9	0	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:61570928G>A	uc010rlm.2	-	8	1283	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	FADS1_uc001nsh.3_Silent_p.F244F	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	328					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTTTCCAGGAACCTGTTAG	0.478													10	316					0	0	1	0	0	A	61570928	G	A	61570928	2	1	18	1	0	0	0	0	0	0	0	1	5365	1165	41	2		2	FADS1	11	61570928	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	55278905	61570928	73435588	15	404											
ITPR2	3709	broad.mit.edu	37	chr12	26784809	26784809	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacacacctgcaaaatcTcaatgatcttcagcttggtg	8	11	3	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:26784809T>A	uc001rhg.3	-	21	3341	c.2924A>T	c.(2923-2925)gAg>gTg	p.E975V		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	975					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTGCAAAATCTCAATGATCTT	0.473													6	150					0	0	1	0	0	A	26784809	T	A	26784809	3	1	18	1	0	0	0	0	1	0	0	0	7921	1551	54	5	5325	5	ITPR2	12	26784809	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08		26784809	107067086	16	405											
ESPL1	9700	broad.mit.edu	37	chr12	53670431	53670431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagacagcctcagtggctgGgacccggagaccctggccct	14	15	1	2			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:53670431G>T	uc001sck.2	+	7	1819	c.1728G>T	c.(1726-1728)tgG>tgT	p.W576C	ESPL1_uc001scj.2_Missense_Mutation_p.W251C	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	576					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCAGTGGCTGGGACCCGGAGA	0.632													17	29					0	0	1	0	0	T	53670431	G	T	53670431	3	4	18	1	0	0	0	0	1	0	0	0	5253	1241	43	4	1754	4	ESPL1	12	53670431	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	26885622	53670431	80181464	17	406											
KSR2	283455	broad.mit.edu	37	chr12	117922266	117922266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaagagtccaaagtccGtgatgaccactttgccgttg	11	10	0	4			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:117922266G>A	uc001two.2	-	15	2373	c.2318C>T	c.(2317-2319)aCg>aTg	p.T773M		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	802	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.T834M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAAGTCCGTGATGACCAC	0.542													7	60					0	0	1	0	0	A	117922266	G	A	117922266	3	1	18	1	0	0	0	0	1	0	0	0	8582	1145	40	1	467	1	KSR2	12	117922266	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	64251835	117922266	15929629	18	407											
NDFIP2	54602	broad.mit.edu	37	chr13	80107511	80107511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacctccctatagcgttgctAcctctcttcctacatacgat	4	16	1	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr13:80107511A>T	uc001vlf.3	+	2	621	c.541A>T	c.(541-543)Acc>Tcc	p.T181S	NDFIP2_uc010tib.2_Missense_Mutation_p.T181S|NDFIP2_uc001vlg.3_Non-coding_Transcript	NM_019080	NP_061953	Q9NV92	NFIP2_HUMAN	Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA.	181					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endoplasmic reticulum|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	WW domain binding|signal transducer activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TAGCGTTGCTACCTCTCTTCC	0.383													35	58					0	0	1	0	0	T	80107511	A	T	80107511	3	4	18	1	0	0	0	0	1	0	0	0	10246	391	14	5	551	5	NDFIP2	13	80107511	Missense_Mutation	SNP	A	TCGA-BJ-A28S-01A-11D-A19J-08		80107511	35062367	19	408											
MSLNL	401827	broad.mit.edu	37	chr16	824957	824957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcaccgatgctggacgCgtccatgtcacacaccaggg	13	14	1	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr16:824957C>T	uc002cjz.1	-	6	1615	c.1615G>A	c.(1615-1617)Gcg>Acg	p.A539T		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	188					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ATGCTGGACGCGTCCATGTCA	0.716													18	91					0	0	1	0	0	T	824957	C	T	824957	3	4	18	1	0	0	0	0	1	0	0	0	9882	768	27	1	1586	1	MSLNL	16	824957	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		824957	89529796	20	409											
ZNF624	57547	broad.mit.edu	37	chr17	16525630	16525630	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgagtttctctttgatgtAttctttgatgtacagtaagg	9	5	2	3			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:16525630A>T	uc010cpi.2	-	5	2662	c.2570T>A	c.(2569-2571)aTa>aAa	p.I857K	ZNF624_uc021tre.1_Missense_Mutation_p.I731K	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	857					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTTTGATGTATTCTTTGATG	0.328													89	114					0	0	1	0	0	T	16525630	A	T	16525630	3	4	18	1	0	0	0	0	1	0	0	0	18045	449	16	5	31	5	ZNF624	17	16525630	Missense_Mutation	SNP	A	TCGA-BJ-A28S-01A-11D-A19J-08		16525630	64669580	21	410											
CEACAM20	125931	broad.mit.edu	37	chr19	45028102	45028102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaagtccctgagtcctccCgctggacaatgagaatggtg	13	10	0	2			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45028102C>T	uc010ejn.1	-	2	405	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	CEACAM20_uc010ejo.1_Missense_Mutation_p.R130Q|CEACAM20_uc010ejp.1_Missense_Mutation_p.R130Q|CEACAM20_uc010ejq.1_Missense_Mutation_p.R130Q	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	130	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGAGTCCTCCCGCTGGACAAT	0.527													3	6					0	0	1	0	0	T	45028102	C	T	45028102	3	4	18	1	0	0	0	0	1	0	0	0	3191	652	23	1	1442	1	CEACAM20	19	45028102	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		45028102	14100881	22	411											
EXOC3L2	90332	broad.mit.edu	37	chr19	45716591	45716591	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcgcaggccacggatgtcGaggagggctgccacgtgctt	16	11	0	0			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45716591G>A	uc002pay.1	-	9	1007	c.966C>T	c.(964-966)ctC>ctT	p.L322L		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	322										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CACGGATGTCGAGGAGGGCTG	0.672													44	89					0	0	1	0	0	A	45716591	G	A	45716591	2	1	18	1	0	0	0	0	0	0	0	1	5305	1045	37	1		1	EXOC3L2	19	45716591	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	688489	45716591	13412392	23	412											
RBM12	10137	broad.mit.edu	37	chr20	34242285	34242285	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcccatgaaaaaaatctctGacatcattttccattgcaga	5	10	2	3			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr20:34242285G>C	uc002xdq.3	-	2	1232	c.960C>G	c.(958-960)gtC>gtG	p.V320V	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xds.3_Silent_p.V320V|RBM12_uc002xdr.3_Silent_p.V320V|RBM12_uc021wcq.1_Silent_p.V320V|RBM12_uc021wcr.1_Silent_p.V320V	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	320	RRM 1.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AAAAATCTCTGACATCATTTT	0.438													4	153					0	0	1	0	0	C	34242285	G	C	34242285	2	2	18	1	0	0	0	0	0	0	0	1	13113	1277	45	4		4	RBM12	20	34242285	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		34242285	28783235	24	413											
BRWD1	54014	broad.mit.edu	37	chr21	40668280	40668280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagcccttccaaactgtgTgcctgcagtctttaaaatga	8	11	1	2			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr21:40668280T>C	uc002yxk.2	-	5	654	c.359A>G	c.(358-360)cAc>cGc	p.H120R	BRWD1_uc021wjf.1_Missense_Mutation_p.H120R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCAAACTGTGTGCCTGCAGTC	0.368													83	88					0	0	1	0	0	C	40668280	T	C	40668280	3	2	18	1	0	0	0	0	1	0	0	0	1525	1696	59	3	6990	3	BRWD1	21	40668280	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08		40668280	7461615	25	414											
PKDREJ	10343	broad.mit.edu	37	chr22	46658226	46658226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcagggaactcctgaCgatccagacatagacggcgt	12	13	0	3			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:46658226C>T	uc003bhh.3	-	0	994	c.994G>A	c.(994-996)Gtc>Atc	p.V332I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	332	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAACTCCTGACGATCCAGACA	0.547													7	372					0	0	1	0	0	T	46658226	C	T	46658226	3	4	18	1	0	0	0	0	1	0	0	0	11970	536	19	1	5771	1	PKDREJ	22	46658226	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		46658226	4646340	26	415											
CXorf22	170063	broad.mit.edu	37	chrX	35989984	35989984	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaatatgattttttacAggttctcaaaggacttaaat	7	4	1	1			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:35989984A>T	uc004ddj.3	+	13	2224	c.2158_splice	c.e13-2	p.V720_splice	CXorf22_uc010ngv.3_Splice_Site	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	720										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GATTTTTTACAGGTTCTCAAA	0.323													13	1					0	0	1	0	0	T	35989984	A	T	35989984	5	4	18	1	0	0	0	0	0	0	1	0	4102	202	7	5	2206	5	CXorf22	23	35989984	Splice_Site	SNP	A	TCGA-BJ-A28S-01A-11D-A19J-08		35989984	119280576	27	416											
MAGEC3	139081	broad.mit.edu	37	chrX	140969464	140969464	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgtgaggggagtcTgagtgatgagcagggcatgc	16	9	2	4			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:140969464T>A	uc011mwp.2	+	3	791	c.791T>A	c.(790-792)cTg>cAg	p.L264Q		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	264	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGGAGTCTGAGTGATGAG	0.478													5	199					0	0	1	0	0	A	140969464	T	A	140969464	3	1	18	1	0	0	0	0	1	0	0	0	9182	1580	55	5	805	5	MAGEC3	23	140969464	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08	104979480	140969464	14301096	28	417											
SLC35D2	11046	broad.mit.edu	37	chr9	99083567	99083567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcttcacccacaggtTtaggttttaactggctgctc	8	10	2	0			TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr9:99083567T>C	uc004awc.3	-	11	1047	c.971A>G	c.(970-972)aAa>aGa	p.K324R	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Missense_Mutation_p.K236R	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	324						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACCCACAGGTTTAGGTTTTAA	0.448													6	68					0	0	1	0	0	C	99083567	T	C	99083567	3	2	19	1	0	0	0	0	1	0	0	0	14582	1841	64	3	46	3	SLC35D2	9	99083567	Missense_Mutation	SNP	T	TCGA-BJ-A28T-01A-11D-A16O-08		99083567	42129864	1	418											
ATM	472	broad.mit.edu	37	chr11	108200988	108200988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggatgaattagcccTgcgtgcactgaaagaggatc	14	7	0	3			TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr11:108200988T>C	uc001pkb.1	+	49	7740	c.7355T>C	c.(7354-7356)cTg>cCg	p.L2452P	ATM_uc009yxr.1_Missense_Mutation_p.L2452P|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.L1104P|ATM_uc001pkg.1_Missense_Mutation_p.L809P	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2452	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAATTAGCCCTGCGTGCACTG	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	67					0	0	1	0	0	C	108200988	T	C	108200988	3	2	19	1	0	0	0	0	1	0	0	0	1109	1580	55	3	7549	3	ATM	11	108200988	Missense_Mutation	SNP	T	TCGA-BJ-A28T-01A-11D-A16O-08		108200988	26805528	2	419											
NLRP1	22861	broad.mit.edu	37	chr17	5418798	5418798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgttactgacctatgCgggctggagggatcagagta	15	7	1	3			TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr17:5418798C>T	uc002gci.3	-	15	4652	c.4097G>A	c.(4096-4098)cGc>cAc	p.R1366H	NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Missense_Mutation_p.R1322H|NLRP1_uc002gck.3_Missense_Mutation_p.R1322H|NLRP1_uc002gcj.3_Missense_Mutation_p.R1336H|NLRP1_uc002gcl.3_Missense_Mutation_p.R1292H	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1366			R -> C (in dbSNP:rs2137722).		defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTGACCTATGCGGGCTGGAGG	0.507													4	70					0	0	1	0	0	T	5418798	C	T	5418798	3	4	19	1	0	0	0	0	1	0	0	0	10471	768	27	1	395	1	NLRP1	17	5418798	Missense_Mutation	SNP	C	TCGA-BJ-A28T-01A-11D-A16O-08		5418798	75776412	3	420											
USP48	84196	broad.mit.edu	37	chr1	22084264	22084264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagcaattcggatttccTttgcagtttcgtctaagggg	10	9	1	0			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:22084264T>C	uc010odq.2	-	1	385	c.147A>G	c.(145-147)aaA>aaG	p.K49K	USP48_uc001bfb.3_Silent_p.K49K|USP48_uc009vqc.3_Silent_p.K49K|USP48_uc001bfc.3_Silent_p.K49K|USP48_uc001bfe.1_Silent_p.K49K|USP48_uc001bff.3_Silent_p.K49K	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	49					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCGGATTTCCTTTGCAGTTTC	0.333													19	22					0	0	1	0	0	C	22084264	T	C	22084264	2	2	20	1	0	0	0	0	0	0	0	1	17076	1606	56	3		3	USP48	1	22084264	Silent	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		22084264	227166357	1	421											
JAK1	3716	broad.mit.edu	37	chr1	65309860	65309860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttcttggagtcctcaaCacactcaggagcaatccatg	9	12	3	0			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:65309860C>T	uc001dbu.1	-	16	2539	c.2290G>A	c.(2290-2292)Gtt>Att	p.V764I	JAK1_uc009wam.1_Missense_Mutation_p.V764I|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	764	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GAGTCCTCAACACACTCAGGA	0.488			Mis		ALL								42	105					0	0	1	0	0	T	65309860	C	T	65309860	3	4	20	1	0	0	0	0	1	0	0	0	7937	478	17	2	1210	2	JAK1	1	65309860	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	43225596	65309860	183940761	2	422											
NUP210L	91181	broad.mit.edu	37	chr1	153984831	153984831	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgagcattaatcttgatgAtgcattgaccaccacctgtc	7	11	1	4			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:153984831A>T	uc001fdw.3	-	33	4741	c.4669T>A	c.(4669-4671)Tca>Aca	p.S1557T	NUP210L_uc009woq.3_Missense_Mutation_p.S466T|NUP210L_uc010peh.2_Missense_Mutation_p.S1557T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1557						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATCTTGATGATGCATTGACC	0.413													64	103					0	0	1	0	0	T	153984831	A	T	153984831	3	4	20	1	0	0	0	0	1	0	0	0	10761	333	12	5	1025	5	NUP210L	1	153984831	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08	88674971	153984831	95265790	3	423											
PCNXL2	80003	broad.mit.edu	37	chr1	233152767	233152767	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgggacgtagtcatcatcaAtgttaatgttgaacattgca	9	7	3	1	rs147956389	by1000genomes	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:233152767A>T	uc001hvl.2	-	26	4974	c.4739T>A	c.(4738-4740)aTt>aAt	p.I1580N	PCNXL2_uc001hvk.1_Missense_Mutation_p.I232N|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1580						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCATCATCAATGTTAATGTT	0.458													38	54					0	0	1	0	0	T	233152767	A	T	233152767	3	4	20	1	0	0	0	0	1	0	0	0	11592	101	4	5	1706	5	PCNXL2	1	233152767	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08	79167936	233152767	16097854	4	424											
APOB	338	broad.mit.edu	37	chr2	21245891	21245891	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactccacagacacggagggTtttgccaccagttcagcctg	10	13	1	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:21245891T>A	uc002red.3	-	17	2756	c.2628A>T	c.(2626-2628)aaA>aaT	p.K876N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	876					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACGGAGGGTTTTGCCACCA	0.473													4	69					0	0	1	0	0	A	21245891	T	A	21245891	3	1	20	1	0	0	0	0	1	0	0	0	785	1722	60	5	11111	5	APOB	2	21245891	Missense_Mutation	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		21245891	221953482	5	425											
ABCG8	64241	broad.mit.edu	37	chr2	44079903	44079903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctggtcctcctgatgaCgtctggcacccccatctact	8	15	3	3			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:44079903C>T	uc002rtq.3	+	5	950	c.860C>T	c.(859-861)aCg>aTg	p.T287M	ABCG8_uc010yoa.2_Missense_Mutation_p.T287M	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	287	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCCTGATGACGTCTGGCACC	0.587													6	71					0	0	1	0	0	T	44079903	C	T	44079903	3	4	20	1	0	0	0	0	1	0	0	0	72	536	19	1	882	1	ABCG8	2	44079903	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	22834012	44079903	199119470	6	426											
HEG1	57493	broad.mit.edu	37	chr3	124746059	124746059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcactcacatgaggaaagGtctaagagaggagaggaagc	15	6	2	3			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr3:124746059G>A	uc011bke.2	-	2	971	c.903C>T	c.(901-903)gaC>gaT	p.D301D	HEG1_uc003ehs.4_Silent_p.D301D	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	301						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATGAGGAAAGGTCTAAGAGAG	0.468													3	9					0	0	1	0	0	A	124746059	G	A	124746059	2	1	20	1	0	0	0	0	0	0	0	1	7044	1252	44	2		2	HEG1	3	124746059	Silent	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		124746059	73276371	7	427											
TKTL2	84076	broad.mit.edu	37	chr4	164394293	164394293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtagatgtctgcgccAtgctcaaggggtgcagggcc	15	10	3	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr4:164394293A>C	uc003iqp.4	-	0	755	c.594T>G	c.(592-594)caT>caG	p.H198Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	198						cytoplasm	metal ion binding|transketolase activity	p.E197E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCTGCGCCATGCTCAAGGG	0.527													37	60					0	0	1	0	0	C	164394293	A	C	164394293	3	2	20	1	0	0	0	0	1	0	0	0	15933	214	8	5	1290	5	TKTL2	4	164394293	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08		164394293	26759983	8	428											
KIF4B	285643	broad.mit.edu	37	chr5	154393803	154393803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcaaagaaattgataaAaagagtgactttgaatttac	6	5	2	5			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:154393803A>G	uc010jih.1	+	0	544	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	128	Kinesin-motor.			K -> Q (in Ref. 1; AF241316).	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATTGATAAAAAGAGTGACT	0.373													39	75					0	0	1	0	0	G	154393803	A	G	154393803	2	3	20	1	0	0	0	0	0	0	0	1	8304	11	1	3		3	KIF4B	5	154393803	Silent	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08		154393803	26521457	9	429											
NSD1	64324	broad.mit.edu	37	chr5	176721551	176721552	+	Frame_Shift_Ins	INS	-	-	A													cgccagacagactgctcattINSactagcagtcccaaacccca							TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:176721551_176721552insA	uc003mfr.4	+	22	7320_7321	c.7182_7183insA	c.(7180-7185)attactfs	p.I2394fs	NSD1_uc003mft.4_Frame_Shift_Ins_p.I2125fs|NSD1_uc011dfx.2_Frame_Shift_Ins_p.I2042fs|NSD1_uc021yip.1_Frame_Shift_Ins_p.I218fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2394	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GACTGCTCATTACTAGCAGTCC	0.545			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			44	76	---	---	---	---						A	176721552	-	A	176721551	7	5	20	1	0	1	1	0	0	0	0	0	10669	1742	61	0	7268	0	NSD1	5	176721551	Frame_Shift_Ins	INS	-	TCGA-BJ-A28V-01A-11D-A19J-08	22327748	176721551	4193709	10	430											
TBX18	9096	broad.mit.edu	37	chr6	85446689	85446689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tattataggaaccctgatggGtctggttagtggcgaaggca	14	6	1	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr6:85446689G>C	uc003pkl.1	-	7	1538	c.1538C>G	c.(1537-1539)aCc>aGc	p.T513S	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	513					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ACCCTGATGGGTCTGGTTAGT	0.498													19	124					0	0	1	0	0	C	85446689	G	C	85446689	3	2	20	1	0	0	0	0	1	0	0	0	15650	1261	44	4	289	4	TBX18	6	85446689	Missense_Mutation	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		85446689	85668378	11	431											
DCLRE1C	64421	broad.mit.edu	37	chr10	14950925	14950925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcagagtcactgaaaaGctttggtgactgagatcccc	9	11	2	4			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:14950925G>A	uc001inn.3	-	13	1646	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Missense_Mutation_p.L174F|DCLRE1C_uc001inl.3_Missense_Mutation_p.L401F|DCLRE1C_uc001inr.3_Missense_Mutation_p.L406F|DCLRE1C_uc009xji.3_Missense_Mutation_p.L406F|DCLRE1C_uc001inm.3_Missense_Mutation_p.L401F|DCLRE1C_uc001ino.3_Missense_Mutation_p.L406F|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.L401F|DCLRE1C_uc001inq.3_Missense_Mutation_p.L401F|DCLRE1C_uc021pni.1_Missense_Mutation_p.L406F	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	521					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCACTGAAAAGCTTTGGTGAC	0.453								Non-homologous end-joining					10	29					0	0	1	0	0	A	14950925	G	A	14950925	3	1	20	1	0	0	0	0	1	0	0	0	4296	971	34	2	521	2	DCLRE1C	10	14950925	Missense_Mutation	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		14950925	120583822	12	432											
ADO	84890	broad.mit.edu	37	chr10	64565000	64565000	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaagagcctcctgacccagCtccgcgccgaggacttgaac	11	15	0	4			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:64565000C>G	uc001jmg.3	+	0	485	c.181C>G	c.(181-183)Ctc>Gtc	p.L61V		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.	61							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGACCCAGCTCCGCGCCGA	0.687													13	9					0	0	1	0	0	G	64565000	C	G	64565000	3	3	20	1	0	0	0	0	1	0	0	0	325	797	28	4	183	4	ADO	10	64565000	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	49614075	64565000	70969747	13	433											
OR10AG1	282770	broad.mit.edu	37	chr11	55735773	55735773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatttccaaaagggaaaaaTtgctaagaaaaaaatacatg	7	4	0	2			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:55735773T>C	uc010rit.2	-	0	167	c.167A>G	c.(166-168)aAt>aGt	p.N56S		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N56N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGGGAAAAATTGCTAAGAAA	0.343													26	59					0	0	1	0	0	C	55735773	T	C	55735773	3	2	20	1	0	0	0	0	1	0	0	0	10897	1493	52	3	741	3	OR10AG1	11	55735773	Missense_Mutation	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		55735773	79270743	14	434											
OR9I1	219954	broad.mit.edu	37	chr11	57886441	57886441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaaggtgcaagtggtaCgcaggatggctcctgacacc	16	9	0	2	rs139300657	byFrequency	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:57886441C>T	uc001nml.1	-	0	476	c.476G>A	c.(475-477)cGt>cAt	p.R159H	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159H(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCAAGTGGTACGCAGGATGGC	0.542													3	18					0	0	1	0	0	T	57886441	C	T	57886441	3	4	20	1	0	0	0	0	1	0	0	0	11253	536	19	1	472	1	OR9I1	11	57886441	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	2150668	57886441	77120075	15	435											
BCL9L	283149	broad.mit.edu	37	chr11	118769524	118769524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagagggagtctgctccGccatcatgttctgcaggttc	13	12	3	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:118769524G>A	uc001pug.3	-	7	5065	c.4100C>T	c.(4099-4101)gCg>gTg	p.A1367V	BCL9L_uc009zal.3_Missense_Mutation_p.A1362V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1367	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGTCTGCTCCGCCATCATGTT	0.617													3	47					0	0	1	0	0	A	118769524	G	A	118769524	3	1	20	1	0	0	0	0	1	0	0	0	1382	1087	38	1	403	1	BCL9L	11	118769524	Missense_Mutation	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08	60883083	118769524	16236992	16	436											
GUCY2C	2984	broad.mit.edu	37	chr12	14836053	14836053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagttttgaagggcagatcGttggttttccaaaagttaac	10	5	0	2			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:14836053G>A	uc001rcd.3	-	3	671	c.534C>T	c.(532-534)aaC>aaT	p.N178N	GUCY2C_uc009zhz.2_Silent_p.N178N	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	178					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGGCAGATCGTTGGTTTTCC	0.383													21	24					0	0	1	0	0	A	14836053	G	A	14836053	2	1	20	1	0	0	0	0	0	0	0	1	6896	1136	40	1		1	GUCY2C	12	14836053	Silent	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		14836053	119015842	17	437											
PLEKHA5	54477	broad.mit.edu	37	chr12	19501352	19501352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtccagattatagactctAcaagagtgaaccagagttaa	10	7	1	5			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:19501352A>G	uc010sie.2	+	24	3011	c.2903A>G	c.(2902-2904)tAc>tGc	p.Y968C	PLEKHA5_uc001rea.3_Missense_Mutation_p.Y865C|PLEKHA5_uc001reb.3_Missense_Mutation_p.Y807C|PLEKHA5_uc009zin.3_Missense_Mutation_p.Y565C|PLEKHA5_uc010sig.2_Missense_Mutation_p.Y789C|PLEKHA5_uc010sih.1_Missense_Mutation_p.Y762C|PLEKHA5_uc021qvy.1_Missense_Mutation_p.Y796C|PLEKHA5_uc001rec.1_Missense_Mutation_p.Y616C|PLEKHA5_uc009zio.3_Intron	NM_001143821	NP_001137293	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 2, mRNA.	826							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TATAGACTCTACAAGAGTGAA	0.333													9	78					0	0	1	0	0	G	19501352	A	G	19501352	3	3	20	1	0	0	0	0	1	0	0	0	12059	391	14	3	2812	3	PLEKHA5	12	19501352	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08	4665299	19501352	114350543	18	438											
PXMP2	5827	broad.mit.edu	37	chr12	133266955	133266955	+	Frame_Shift_Del	DEL	G	G	-													gtgggcctctgagatatgccGtttacgggtgagtgccatac							TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:133266955delG	uc001ukt.3	+	1	294	c.229delG	c.(229-231)gttfs	p.V77fs	PGAM5_uc010tbr.2_Non-coding_Transcript	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	77						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAGATATGCCGTTTACGGGTG	0.498													18	36	---	---	---	---						-	133266955	G	-	133266955	7	5	20	1	0	1	0	1	0	0	0	0	12850	1145	40	0	235	0	PXMP2	12	133266955	Frame_Shift_Del	DEL	G	TCGA-BJ-A28V-01A-11D-A19J-08	113765603	133266955	584940	19	439											
OR4M1	441670	broad.mit.edu	37	chr14	20249247	20249247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctaatgtttgggccaTccatctacatttatgctcgc	9	10	1	0			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr14:20249247T>C	uc010tku.2	+	0	766	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTTGGGCCATCCATCTACAT	0.423													43	126					0	0	1	0	0	C	20249247	T	C	20249247	3	2	20	1	0	0	0	0	1	0	0	0	11075	1435	50	3	768	3	OR4M1	14	20249247	Missense_Mutation	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		20249247	87100293	20	440											
MYH3	4621	broad.mit.edu	37	chr17	10558261	10558261	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atattcttcctttgagtccaCcacgaagcaatacgtcttgg	7	11	2	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:10558261C>A	uc002gmq.2	-	2	209	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	41	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTGAGTCCACCACGAAGCAA	0.507													54	162					0	0	1	0	0	A	10558261	C	A	10558261	3	1	20	1	0	0	0	0	1	0	0	0	10036	507	18	4	5857	4	MYH3	17	10558261	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08		10558261	70636949	21	441											
APOH	350	broad.mit.edu	37	chr17	64212937	64212937	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatggcagaccagtttccCagtttggtacattctatttc	9	10	1	1			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:64212937C>A	uc002jfn.4	-	5	812	c.753G>T	c.(751-753)ctG>ctT	p.L251L		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	251	Sushi 4.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ACCAGTTTCCCAGTTTGGTAC	0.418													4	108					0	0	1	0	0	A	64212937	C	A	64212937	2	1	20	1	0	0	0	0	0	0	0	1	804	581	21	4		4	APOH	17	64212937	Silent	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	53654676	64212937	16982273	22	442											
FUT3	2525	broad.mit.edu	37	chr19	5844724	5844724	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgggagccctaggggatcCagtggcatcgtctcgggaca	15	11	1	0			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr19:5844724C>A	uc002mdk.2	-	1	224	c.127G>T	c.(127-129)Gga>Tga	p.G43*	FUT3_uc002mdm.2_Nonsense_Mutation_p.G43*|FUT3_uc002mdj.2_Nonsense_Mutation_p.G43*|FUT3_uc002mdl.2_Nonsense_Mutation_p.G43*|FUT3_uc021unn.1_Nonsense_Mutation_p.G43*|BC033124_uc002mdn.3_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	43					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTAGGGGATCCAGTGGCATCG	0.622													8	12					0	0	1	0	0	A	5844724	C	A	5844724	4	1	20	1	0	0	0	0	0	1	0	0	6105	603	21	4	962	4	FUT3	19	5844724	Nonsense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08		5844724	53284259	23	443											
DOK5	55816	broad.mit.edu	37	chr20	53267018	53267018	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctacagatctgagcactgAcagtaactgccaagaattgt	9	10	1	4			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr20:53267018A>T	uc002xwy.3	+	7	1141	c.921A>T	c.(919-921)tgA>tgT	p.*307C		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	0							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CTGAGCACTGACAGTAACTGC	0.423													4	45					0	0	1	0	0	T	53267018	A	T	53267018	4	4	20	1	0	0	0	0	0	0	0	0	4700	288	10	5	951	5	DOK5	20	53267018	Nonstop_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08		53267018	9758502	24	444											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703746	52703746	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggatccattgaatagaccGaaaacagaggggagatctgt	12	6	1	4			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:52703746G>A	uc001cto.3	+	3	829	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ZFYVE9_uc001ctn.3_Silent_p.P219P|ZFYVE9_uc001ctp.3_Silent_p.P219P	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	219					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATAGACCGAAAACAGAGG	0.363													4	237					0	0	1	0	0	A	52703746	G	A	52703746	2	1	21	1	0	0	0	0	0	0	0	1	17668	1045	37	1		1	ZFYVE9	1	52703746	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		52703746	196546875	1	445											
TGFBR3	7049	broad.mit.edu	37	chr1	92262932	92262932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagttgtgcctctgctgGcacagcctgacaaaacagtg	11	13	1	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:92262932G>A	uc001doh.3	-	2	673	c.158C>T	c.(157-159)gCc>gTc	p.A53V	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Missense_Mutation_p.A11V|TGFBR3_uc001doi.3_Missense_Mutation_p.A53V|TGFBR3_uc001doj.3_Missense_Mutation_p.A53V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	53					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCCTCTGCTGGCACAGCCTGA	0.602													5	280					0	0	1	0	0	A	92262932	G	A	92262932	3	1	21	1	0	0	0	0	1	0	0	0	15820	1203	42	2	2457	2	TGFBR3	1	92262932	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	39559186	92262932	156987689	2	446											
KCNC4	3749	broad.mit.edu	37	chr1	110754255	110754255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcaacgtgggcggcaCgcgacatgagacctaccgca	11	14	2	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:110754255C>T	uc009wfr.3	+	0	920	c.134C>T	c.(133-135)aCg>aTg	p.T45M	KCNC4_uc001dzf.3_Missense_Mutation_p.T45M|KCNC4_uc001dzh.3_Missense_Mutation_p.T45M|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.T45M	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	45					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCGGCACGCGACATGAG	0.682													3	67					0	0	1	0	0	T	110754255	C	T	110754255	3	4	21	1	0	0	0	0	1	0	0	0	8017	536	19	1	136	1	KCNC4	1	110754255	Missense_Mutation	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08	18491323	110754255	138496366	3	447											
TMEM63A	9725	broad.mit.edu	37	chr1	226050509	226050509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtttggccacgttgtaGcacagctgcacatcaaccac	8	13	2	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:226050509G>A	uc001hpm.2	-	10	1411	c.789C>T	c.(787-789)tgC>tgT	p.C263C		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	263						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCACGTTGTAGCACAGCTGCA	0.577													3	79					0	0	1	0	0	A	226050509	G	A	226050509	2	1	21	1	0	0	0	0	0	0	0	1	16187	963	34	2		2	TMEM63A	1	226050509	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	115296254	226050509	23200112	4	448											
MYH15	22989	broad.mit.edu	37	chr3	108224618	108224618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccatcatcttcactcccTtttacctcagcctcgatata	3	15	4	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr3:108224618T>C	uc003dxa.1	-	2	264	c.207A>G	c.(205-207)aaA>aaG	p.K69K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	69	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.K69K(2)|p.V68L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCACTCCCTTTTACCTCAG	0.348													3	244					0	0	1	0	0	C	108224618	T	C	108224618	2	2	21	1	0	0	0	0	0	0	0	1	10034	1606	56	3		3	MYH15	3	108224618	Silent	SNP	T	TCGA-BJ-A28X-01A-11D-A22D-08		108224618	89797812	5	449											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	8	21	0	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr4:3443797C>G	uc010icw.3	+	0	72	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_uc003ghc.3_Silent_p.L23L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													3	46					0	0	1	0	0	G	3443797	C	G	3443797	2	3	21	1	0	0	0	0	0	0	0	1	7086	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08		3443797	187710479	6	450											
PRRC1	133619	broad.mit.edu	37	chr5	126887496	126887496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttactgaatgtcagccGgactgattggcacatggcat	12	8	1	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:126887496G>A	uc003kuk.3	+	8	1406	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	PRRC1_uc003kuj.4_3'UTR|PRRC1_uc021ydd.1_5'Flank	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	Homo sapiens proline-rich coiled-coil 1 (PRRC1), mRNA.	409						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AATGTCAGCCGGACTGATTGG	0.527													3	115					0	0	1	0	0	A	126887496	G	A	126887496	3	1	21	1	0	0	0	0	1	0	0	0	12604	1116	39	1	1256	1	PRRC1	5	126887496	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		126887496	54027764	7	451											
PCDHB5	26167	broad.mit.edu	37	chr5	140516096	140516096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccccagaaaatgccccGgaaactgtagttgccgtttt	8	13	0	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:140516096G>A	uc003liq.3	+	0	1297	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	360	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P360P(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCCCCGGAAACTGTAG	0.502													3	159					0	0	1	0	0	A	140516096	G	A	140516096	2	1	21	1	0	0	0	0	0	0	0	1	11545	1103	39	1		1	PCDHB5	5	140516096	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	13628600	140516096	40399164	8	452											
CTTNBP2	83992	broad.mit.edu	37	chr7	117368303	117368303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaggatcgcagggggAgggcgcctgacctttgaact	15	11	0	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:117368303A>G	uc003vjf.3	-	16	3987	c.3895T>C	c.(3895-3897)Tcc>Ccc	p.S1299P		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1299										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCGCAGGGGGAGGGCGCCTGA	0.512													3	237					0	0	1	0	0	G	117368303	A	G	117368303	3	3	21	1	0	0	0	0	1	0	0	0	4045	304	11	3	1124	3	CTTNBP2	7	117368303	Missense_Mutation	SNP	A	TCGA-BJ-A28X-01A-11D-A22D-08		117368303	41770360	9	453											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				29	134					0	0	1	0	0	T	140453136	A	T	140453136	3	4	21	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A28X-01A-11D-A22D-08	23084833	140453136	18685527	10	454											
GIMAP8	155038	broad.mit.edu	37	chr7	150163814	150163814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagagctgccagatgtccGaactgcggctcctcctcctg	11	15	0	2	rs143529569		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:150163814G>A	uc003whj.3	+	1	358	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	10						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.E10K(4)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGATGTCCGAACTGCGGCT	0.507													3	99					0	0	1	0	0	A	150163814	G	A	150163814	3	1	21	1	0	0	0	0	1	0	0	0	6385	1059	37	1	30	1	GIMAP8	7	150163814	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	9710678	150163814	8974849	11	455											
SETX	23064	broad.mit.edu	37	chr9	135173645	135173645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttcgtttaaattggccGgaaagttctcttgagtctgg	11	7	2	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr9:135173645G>A	uc004cbk.3	-	12	5786	c.5603C>T	c.(5602-5604)cCg>cTg	p.P1868L	SETX_uc004cbj.3_Missense_Mutation_p.P1487L|SETX_uc010mzt.3_Missense_Mutation_p.P1487L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1868					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAAATTGGCCGGAAAGTTCTC	0.388													3	106					0	0	1	0	0	A	135173645	G	A	135173645	3	1	21	1	0	0	0	0	1	0	0	0	14141	1116	39	1	2486	1	SETX	9	135173645	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		135173645	6039786	12	456											
CNTF	1270	broad.mit.edu	37	chr11	58390308	58390308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctagcaaggaagattcGttcagacctgactgctctta	10	10	2	3	rs139149169	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58390308G>A	uc001nna.4	+	0	163	c.83G>A	c.(82-84)cGt>cAt	p.R28H	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	28					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	p.R28C(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGATTCGTTCAGACCTG	0.483													13	49					0	0	1	0	0	A	58390308	G	A	58390308	3	1	21	1	0	0	0	0	1	0	0	0	3637	1145	40	1	85	1	CNTF	11	58390308	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		58390308	76616208	13	457											
FAM111B	374393	broad.mit.edu	37	chr11	58892674	58892674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaagttagacggaggccGcatctgggtaggcggtatgc	15	9	2	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58892674G>A	uc001nnl.3	+	3	1347	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_uc001nnm.3_Silent_p.P338P|FAM111B_uc010rko.2_Silent_p.P338P|FAM111B_uc021qjn.1_Silent_p.P338P	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	368							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383													4	229					0	0	1	0	0	A	58892674	G	A	58892674	2	1	21	1	0	0	0	0	0	0	0	1	5400	1074	38	1		1	FAM111B	11	58892674	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	502366	58892674	76113842	14	458											
OSBP	5007	broad.mit.edu	37	chr11	59377967	59377967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggtctgagcacccccaTtggaaatgatgaagttgcag	13	8	1	3			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:59377967T>C	uc001noc.1	-	1	938	c.458A>G	c.(457-459)aAt>aGt	p.N153S		NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	153	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCACCCCCATTGGAAATGAT	0.537													41	119					0	0	1	0	0	C	59377967	T	C	59377967	3	2	21	1	0	0	0	0	1	0	0	0	11273	1493	52	3	2017	3	OSBP	11	59377967	Missense_Mutation	SNP	T	TCGA-BJ-A28X-01A-11D-A22D-08	485293	59377967	75628549	15	459											
CD4	920	broad.mit.edu	37	chr12	6927643	6927643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgattgtgctggggggcGtcgccggcctcctgcttttc	14	14	0	1			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:6927643G>A	uc001qqv.2	+	7	1471	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	CD4_uc010sfj.2_Missense_Mutation_p.V132I|CD4_uc009zfc.2_Missense_Mutation_p.V226I|CD4_uc010sfl.2_Missense_Mutation_p.V132I|CD4_uc010sfk.2_Missense_Mutation_p.V132I|CD4_uc010sfm.1_Missense_Mutation_p.V132I	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	405					T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.G404G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GCTGGGGGGCGTCGCCGGCCT	0.622													4	145					0	0	1	0	0	A	6927643	G	A	6927643	3	1	21	1	0	0	0	0	1	0	0	0	3014	1145	40	1	1239	1	CD4	12	6927643	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		6927643	126924252	16	460											
OR6C3	254786	broad.mit.edu	37	chr12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatctcatttacaaccGtatgcatccccagatttctg	5	11	2	2	rs139430640		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:55725701G>A	uc010spj.2	+	0	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428													4	149					0	0	1	0	0	A	55725701	G	A	55725701	3	1	21	1	0	0	0	0	1	0	0	0	11192	1145	40	1	219	1	OR6C3	12	55725701	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	48798058	55725701	78126194	17	461											
LEMD3	23592	broad.mit.edu	37	chr12	65564560	65564560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaataatcatattggcgGtggggccttcagtgtggact	12	8	2	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:65564560G>A	uc001ssl.2	+	0	1210	c.1184G>A	c.(1183-1185)gGt>gAt	p.G395D	LEMD3_uc009zqo.2_Missense_Mutation_p.G395D	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	395					negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CATATTGGCGGTGGGGCCTTC	0.537													4	180					0	0	1	0	0	A	65564560	G	A	65564560	3	1	21	1	0	0	0	0	1	0	0	0	8721	1261	44	2	1186	2	LEMD3	12	65564560	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	9838859	65564560	68287335	18	462											
ADCY4	196883	broad.mit.edu	37	chr14	24798362	24798362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtaacgggtcatcaGcagtgatggacgcatcttga	12	10	3	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:24798362G>A	uc001wow.3	-	9	1848	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	ADCY4_uc010toh.2_Silent_p.L163L|ADCY4_uc001wox.3_Silent_p.L477L|ADCY4_uc001woy.3_Silent_p.L477L	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	477					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGTCATCAGCAGTGATGGA	0.622													3	96					0	0	1	0	0	A	24798362	G	A	24798362	2	1	21	1	0	0	0	0	0	0	0	1	296	962	34	2		2	ADCY4	14	24798362	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		24798362	82551178	19	463											
C14orf135	64430	broad.mit.edu	37	chr14	60591629	60591629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttagtatgcttacccGcagagtggaggactagctgt	11	10	1	1	rs141333786		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:60591629G>A	uc001xer.4	+	7	2560	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	C14orf135_uc001xeq.2_Missense_Mutation_p.A680T|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	914						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ATGCTTACCCGCAGAGTGGAG	0.433													4	217					0	0	1	0	0	A	60591629	G	A	60591629	3	1	21	1	0	0	0	0	1	0	0	0	1745	1087	38	1	2064	1	C14orf135	14	60591629	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	35793267	60591629	46757911	20	464											
INF2	64423	broad.mit.edu	37	chr14	105175025	105175025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatcactttcctcgatgcCaagaagagcctgaacctcaa	7	12	2	4			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:105175025C>T	uc001ypb.2	+	9	2048	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	INF2_uc001ypc.2_Silent_p.A635A|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	635	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCTCGATGCCAAGAAGAGCC	0.622											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	181					0	0	1	0	0	T	105175025	C	T	105175025	2	4	21	1	0	0	0	0	0	0	0	1	7734	581	21	2		2	INF2	14	105175025	Silent	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08	44583396	105175025	2174515	21	465											
ZNF770	54989	broad.mit.edu	37	chr15	35274879	35274879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggcgagattctgtacGcctcttctttaataaaagag	11	8	3	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr15:35274879G>A	uc001ziw.3	-	2	1111	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	ZNF770_uc021siy.1_Missense_Mutation_p.R253C	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GATTCTGTACGCCTCTTCTTT	0.368													3	59					0	0	1	0	0	A	35274879	G	A	35274879	3	1	21	1	0	0	0	0	1	0	0	0	18140	1087	38	1	1322	1	ZNF770	15	35274879	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		35274879	67256513	22	466											
MEFV	4210	broad.mit.edu	37	chr16	3304298	3304298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagagtcaggagaatttctGgatttgcgggcgccttctcc	12	10	3	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:3304298G>A	uc002cun.1	-	1	810	c.770C>T	c.(769-771)cCa>cTa	p.P257L	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	257					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAGAATTTCTGGATTTGCGGG	0.577													48	178					0	0	1	0	0	A	3304298	G	A	3304298	3	1	21	1	0	0	0	0	1	0	0	0	9459	1348	47	2	1611	2	MEFV	16	3304298	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		3304298	87050455	23	467											
GPRC5B	51704	broad.mit.edu	37	chr16	19883499	19883499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacctcttgaacttgccGcacagagtgaagagggccag	11	12	1	4			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:19883499G>A	uc010vav.2	-	1	978	c.747C>T	c.(745-747)tgC>tgT	p.C249C	GPRC5B_uc021tef.1_Silent_p.C215C|GPRC5B_uc002dgt.3_Silent_p.C223C	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	223										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGAACTTGCCGCACAGAGTGA	0.592													3	133					0	0	1	0	0	A	19883499	G	A	19883499	2	1	21	1	0	0	0	0	0	0	0	1	6725	1079	38	1		1	GPRC5B	16	19883499	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	16579201	19883499	70471254	24	468											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67473189	67473189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactcacctccaggatgggGcacatggcatcagccgtagt	12	13	2	0			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:67473189G>A	uc010vjo.1	-	5	850	c.750C>T	c.(748-750)tgC>tgT	p.C250C	ATP6V0D1_uc002ete.1_Silent_p.C209C|ATP6V0D1_uc010vjn.1_Silent_p.C132C	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	209					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCAGGATGGGGCACATGGCAT	0.627													4	94					0	0	1	0	0	A	67473189	G	A	67473189	2	1	21	1	0	0	0	0	0	0	0	1	1173	1195	42	2		2	ATP6V0D1	16	67473189	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	47589690	67473189	22881564	25	469											
AP2B1	163	broad.mit.edu	37	chr17	34009806	34009806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctctcaataccttggGcccagtcatgaagatggaac	9	13	2	2			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr17:34009806G>A	uc002hjq.3	+	17	2606	c.2417G>A	c.(2416-2418)gGc>gAc	p.G806D	AP2B1_uc002hjr.3_Missense_Mutation_p.G792D|AP2B1_uc010wci.2_Missense_Mutation_p.G768D|AP2B1_uc002hjs.3_Missense_Mutation_p.G735D|AP2B1_uc002hjt.3_Missense_Mutation_p.G806D|AP2B1_uc010ctv.3_Missense_Mutation_p.G806D|AP2B1_uc010wcj.2_Missense_Mutation_p.G543D	NM_001030006	NP_001025177	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 1, mRNA.	792					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATACCTTGGGCCCAGTCATG	0.438													4	137					0	0	1	0	0	A	34009806	G	A	34009806	3	1	21	1	0	0	0	0	1	0	0	0	741	1203	42	2	2483	2	AP2B1	17	34009806	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		34009806	47185404	26	470											
RTEL1	51750	broad.mit.edu	37	chr20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctcttcatggtggccGtgaagcaggagttgagccaa	13	10	2	2	rs143317975		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr20:62324212G>A	uc021wge.1	+	27	2877	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V903M|RTEL1_uc011abd.2_Missense_Mutation_p.V927M|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V680M|RTEL1_uc002yfx.1_Missense_Mutation_p.V148M|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	903					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642													3	137					0	0	1	0	0	A	62324212	G	A	62324212	3	1	21	1	0	0	0	0	1	0	0	0	13720	1145	40	1	2817	1	RTEL1	20	62324212	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		62324212	701308	27	471											
NIPAL3	57185	broad.mit.edu	37	chr1	24785395	24785395	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggtttttgagtcaagcctCacagatgtacgactcctctt	8	10	3	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:24785395C>T	uc001bjh.3	+	8	1198	c.791C>T	c.(790-792)tCa>tTa	p.S264L	NIPAL3_uc009vrc.3_Missense_Mutation_p.S182L|NIPAL3_uc001bji.3_Silent_p.L72L	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA.	264						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGCCTCACAGATGTAC	0.468													17	58					0	0	1	0	0	T	24785395	C	T	24785395	3	4	22	1	0	0	0	0	1	0	0	0	10426	838	29	2	821	2	NIPAL3	1	24785395	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		24785395	224465226	1	472											
TNFSF4	7292	broad.mit.edu	37	chr1	173155920	173155920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagataaaacccatcacagTtgatgatgactgagttgttc	9	7	1	5			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:173155920T>C	uc001giw.3	-	2	443	c.287A>G	c.(286-288)aAc>aGc	p.N96S	TNFSF4_uc001giv.3_Missense_Mutation_p.N46S	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	96					T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCCATCACAGTTGATGATGAC	0.458													21	69					0	0	1	0	0	C	173155920	T	C	173155920	3	2	22	1	0	0	0	0	1	0	0	0	16307	1725	60	3	268	3	TNFSF4	1	173155920	Missense_Mutation	SNP	T	TCGA-BJ-A28Z-01A-11D-A16O-08	148370525	173155920	76094701	2	473											
MAP4K4	9448	broad.mit.edu	37	chr2	102450904	102450904	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttgtggcattacagccattGagatggcagaaggtgctccc	12	10	0	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr2:102450904G>C	uc002tbc.3	+	7	1051	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	MAP4K4_uc002tbf.3_Missense_Mutation_p.E225Q|MAP4K4_uc002tbd.3_Missense_Mutation_p.E225Q|MAP4K4_uc010yvy.2_Missense_Mutation_p.E225Q|MAP4K4_uc002tbh.3_Missense_Mutation_p.E225Q|MAP4K4_uc002tbg.3_Missense_Mutation_p.E225Q|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.E205Q|MAP4K4_uc010fiw.1_Missense_Mutation_p.E67Q|MAP4K4_uc002tbj.1_Missense_Mutation_p.E121Q	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	225	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACAGCCATTGAGATGGCAGA	0.408													4	21					0	0	1	0	0	C	102450904	G	C	102450904	3	2	22	1	0	0	0	0	1	0	0	0	9262	1291	45	4	703	4	MAP4K4	2	102450904	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		102450904	140748469	3	474											
ANKRD44	91526	broad.mit.edu	37	chr2	197975514	197975514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatgagggtctgtgaccGtgtgaaccttccatggacag	13	9	1	4			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr2:197975514G>A	uc021vuj.1	-	8	1154	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	ANKRD44_uc002utz.4_Missense_Mutation_p.R10W|ANKRD44_uc021vuk.1_Missense_Mutation_p.R296W|ANKRD44_uc002uub.3_Missense_Mutation_p.R321W|ANKRD44_uc010zgw.2_Missense_Mutation_p.R249W|ANKRD44_uc002uuc.3_Missense_Mutation_p.R321W	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	321							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTGTGACCGTGTGAACCTT	0.428													5	210					0	0	1	0	0	A	197975514	G	A	197975514	3	1	22	1	0	0	0	0	1	0	0	0	672	1144	40	1	1945	1	ANKRD44	2	197975514	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	95524610	197975514	45223859	4	475											
KIF15	56992	broad.mit.edu	37	chr3	44839336	44839336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattaaacaggattcccttgGaggtaatgccaaaacagcca	8	10	0	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:44839336G>A	uc003cnx.4	+	9	1135	c.986G>A	c.(985-987)gGa>gAa	p.G329E	KIF15_uc010hiq.3_Missense_Mutation_p.G232E|KIF15_uc003cny.1_5'Flank	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	329					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GATTCCCTTGGAGGTAATGCC	0.403													27	74					0	0	1	0	0	A	44839336	G	A	44839336	3	1	22	1	0	0	0	0	1	0	0	0	8277	1174	41	2	1024	2	KIF15	3	44839336	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		44839336	153183094	5	476											
BFSP2	8419	broad.mit.edu	37	chr3	133185795	133185795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagacagaatccttaCgtgccctggtaagtgggcca	13	10	0	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:133185795C>T	uc003epn.1	+	4	1153	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	339	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGAATCCTTACGTGCCCTGGT	0.517													16	54					0	0	1	0	0	T	133185795	C	T	133185795	3	4	22	1	0	0	0	0	1	0	0	0	1416	536	19	1	1033	1	BFSP2	3	133185795	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	88346459	133185795	64836635	6	477											
B3GNT5	84002	broad.mit.edu	37	chr3	182988119	182988119	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacttatgcagttcagttGggcaaatacctattgtccac	7	9	1	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:182988119G>A	uc003flk.3	+	1	1063	c.533G>A	c.(532-534)tGg>tAg	p.W178*	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.3_Nonsense_Mutation_p.W178*|B3GNT5_uc003flm.3_Nonsense_Mutation_p.W178*|B3GNT5_uc021xic.1_Nonsense_Mutation_p.W178*	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	178					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGTTCAGTTGGGCAAATACC	0.343													32	95					0	0	1	0	0	A	182988119	G	A	182988119	4	1	22	1	0	0	0	0	0	1	0	0	1260	1357	47	2	535	2	B3GNT5	3	182988119	Nonsense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	49802324	182988119	15034311	7	478											
TRIML1	339976	broad.mit.edu	37	chr4	189060832	189060832	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttttgtctggtgtgtctCctcaggagctgggaggaaca	14	8	3	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr4:189060832C>T	uc003izm.1	+	0	235	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	40					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGTGTGTCTCCTCAGGAGCT	0.547													67	234					0	0	1	0	0	T	189060832	C	T	189060832	2	4	22	1	0	0	0	0	0	0	0	1	16547	842	30	2		2	TRIML1	4	189060832	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		189060832	2093444	8	479											
ARSK	153642	broad.mit.edu	37	chr5	94918766	94918766	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaagcagtaaactggttaaGaaaggaagcaattaattaca	8	5	0	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr5:94918766G>A	uc003kld.3	+	3	721	c.563G>A	c.(562-564)aGa>aAa	p.R188K	ARSK_uc010jbg.3_Missense_Mutation_p.R29K|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	188						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AACTGGTTAAGAAAGGAAGCA	0.388													24	64					0	0	1	0	0	A	94918766	G	A	94918766	3	1	22	1	0	0	0	0	1	0	0	0	996	942	33	2	577	2	ARSK	5	94918766	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		94918766	85996494	9	480											
ROS1	6098	broad.mit.edu	37	chr6	117900212	117900212	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctgtcagttcagatttcaGatccaccaactgtgccttat	6	11	4	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:117900212G>A	uc003pxu.3	-	1	555	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	ROS1_uc003pxv.3_Silent_p.L101L|ROS1_uc010keg.2_5'Flank	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGATTTCAGATCCACCAAC	0.348			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								13	41					0	0	1	0	0	A	117900212	G	A	117900212	2	1	22	1	0	0	0	0	0	0	0	1	13531	933	33	2		2	ROS1	6	117900212	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		117900212	53214855	10	481											
FZD1	8321	broad.mit.edu	37	chr7	90894813	90894813	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcatgaacaagttcggCttccagtggccagacacgct	11	13	1	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr7:90894813C>A	uc003ula.3	+	0	1031	c.618C>A	c.(616-618)ggC>ggA	p.G206G		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	206	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			ACAAGTTCGGCTTCCAGTGGC	0.701													16	56					0	0	1	0	0	A	90894813	C	A	90894813	2	1	22	1	0	0	0	0	0	0	0	1	6128	784	28	4		4	FZD1	7	90894813	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		90894813	68243850	11	482											
STAR	6770	broad.mit.edu	37	chr8	38005733	38005733	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttacctgctgactctccttCttccagccctcttggttgct	6	16	3	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr8:38005733C>T	uc003xkv.1	-	2	555	c.291G>A	c.(289-291)aaG>aaA	p.K97K		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	97	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GACTCTCCTTCTTCCAGCCCT	0.557													9	33					0	0	1	0	0	T	38005733	C	T	38005733	2	4	22	1	0	0	0	0	0	0	0	1	15253	912	32	2		2	STAR	8	38005733	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		38005733	108358289	12	483											
ITGB1	3688	broad.mit.edu	37	chr10	33200886	33200886	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaatttgccagaataaatttCatttgtattatccctcttcc	4	9	2	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr10:33200886C>T	uc001iwr.4	-	10	1636	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	ITGB1_uc001iws.4_Missense_Mutation_p.E546K|ITGB1_uc001iwt.4_Missense_Mutation_p.E546K	NM_033668	NP_391988	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1D, mRNA.	546	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GAATAAATTTCATTTGTATTA	0.403													21	106					0	0	1	0	0	T	33200886	C	T	33200886	3	4	22	1	0	0	0	0	1	0	0	0	7890	835	29	2	1018	2	ITGB1	10	33200886	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		33200886	102333861	13	484											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43651086	43651086	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcaattggaaatgggtctCactcgccatcctgaagaaaa	8	9	2	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr10:43651086C>T	uc001jan.3	+	1	824	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CSGALNACT2_uc001jam.1_Silent_p.L163L	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	163					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.G162C(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAATGGGTCTCACTCGCCATC	0.413													14	65					0	0	1	0	0	T	43651086	C	T	43651086	2	4	22	1	0	0	0	0	0	0	0	1	3939	813	29	2		2	CSGALNACT2	10	43651086	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	10450200	43651086	91883661	14	485											
OR4D9	390199	broad.mit.edu	37	chr11	59283197	59283197	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctccccacagacactgccaTctctgtcaccttcactgtca	4	19	4	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr11:59283197T>A	uc010rkv.2	+	0	812	c.812T>A	c.(811-813)aTc>aAc	p.I271N		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GACACTGCCATCTCTGTCACC	0.532													45	207					0	0	1	0	0	A	59283197	T	A	59283197	3	1	22	1	0	0	0	0	1	0	0	0	11059	1435	50	5	814	5	OR4D9	11	59283197	Missense_Mutation	SNP	T	TCGA-BJ-A28Z-01A-11D-A16O-08		59283197	75723319	15	486											
EHD1	10938	broad.mit.edu	37	chr11	64622296	64622296	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgggcttcagcgcctGgaacttgctgaagtcctggg	14	11	1	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr11:64622296G>C	uc010rnq.1	-	5	1203	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E	EHD1_uc021qkz.1_Missense_Mutation_p.Q55E|EHD1_uc001obu.1_Missense_Mutation_p.Q372E|EHD1_uc001obv.1_Missense_Mutation_p.Q372E	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	372					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCGCCTGGAACTTGCTG	0.642													57	209					0	0	1	0	0	C	64622296	G	C	64622296	3	2	22	1	0	0	0	0	1	0	0	0	4977	1357	47	4	494	4	EHD1	11	64622296	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	5339099	64622296	70384220	16	487											
SMARCC2	6601	broad.mit.edu	37	chr12	56571852	56571852	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccgttgaagaactcggggaGagccctccgctcaatggcat	13	12	1	3			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr12:56571852G>C	uc001skb.3	-	14	1442	c.1336C>G	c.(1336-1338)Ctc>Gtc	p.L446V	SMARCC2_uc001skd.3_Missense_Mutation_p.L446V|SMARCC2_uc001ska.3_Missense_Mutation_p.L446V|SMARCC2_uc001skc.3_Missense_Mutation_p.L446V|SMARCC2_uc010sqf.2_Missense_Mutation_p.L335V	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	446	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACTCGGGGAGAGCCCTCCGC	0.512													7	30					0	0	1	0	0	C	56571852	G	C	56571852	3	2	22	1	0	0	0	0	1	0	0	0	14776	942	33	4	2461	4	SMARCC2	12	56571852	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		56571852	77280043	17	488											
TMTC2	160335	broad.mit.edu	37	chr12	83289743	83289743	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgattcggacagcctcctCacccgcactctcaccttctt	6	18	3	1	rs143764076		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr12:83289743C>T	uc001szt.3	+	2	1233	c.801C>T	c.(799-801)ctC>ctT	p.L267L	TMTC2_uc001szr.1_Silent_p.L267L|TMTC2_uc001szs.1_Silent_p.L267L|TMTC2_uc010suk.2_Silent_p.L22L	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	267						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACAGCCTCCTCACCCGCACTC	0.532													35	160					0	0	1	0	0	T	83289743	C	T	83289743	2	4	22	1	0	0	0	0	0	0	0	1	16258	813	29	2		2	TMTC2	12	83289743	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	26717891	83289743	50562152	18	489											
PAN3	255967	broad.mit.edu	37	chr13	28851441	28851441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactctttggcaggaattcAgcgagagaatttacagaaag	10	7	2	2			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr13:28851441A>G	uc001urz.3	+	14	2269	c.2117A>G	c.(2116-2118)cAg>cGg	p.Q706R	PAN3_uc001ury.3_Missense_Mutation_p.Q394R|PAN3_uc001urx.3_Missense_Mutation_p.Q506R	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	706	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCAGGAATTCAGCGAGAGAAT	0.338													3	109					0	0	1	0	0	G	28851441	A	G	28851441	3	3	22	1	0	0	0	0	1	0	0	0	11415	188	7	3	2175	3	PAN3	13	28851441	Missense_Mutation	SNP	A	TCGA-BJ-A28Z-01A-11D-A16O-08		28851441	86318437	19	490											
GPC5	2262	broad.mit.edu	37	chr13	92345516	92345516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtacctacaggaacatggCcttggaggctgctgcttcgg	13	11	0	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr13:92345516C>T	uc010tif.2	+	2	767	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	134						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGGAACATGGCCTTGGAGGCT	0.403													20	84					0	0	1	0	0	T	92345516	C	T	92345516	3	4	22	1	0	0	0	0	1	0	0	0	6601	739	26	2	411	2	GPC5	13	92345516	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	63494075	92345516	22824362	20	491											
ABCA3	21	broad.mit.edu	37	chr16	2358593	2358593	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggatgtaggtgaagaagtaGaggaagcctccgaaggctgc	17	6	0	3			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr16:2358593G>A	uc002cpy.1	-	10	1855	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	ABCA3_uc010bsk.1_Intron|ABCA3_uc010bsl.1_Silent_p.L381L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	381					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGAAGAAGTAGAGGAAGCCTC	0.602													17	67					0	0	1	0	0	A	2358593	G	A	2358593	2	1	22	1	0	0	0	0	0	0	0	1	33	929	33	2		2	ABCA3	16	2358593	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		2358593	87996160	21	492											
NUBP1	4682	broad.mit.edu	37	chr16	10855244	10855244	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgtcactccaggatgtccgGaaagaaatcaacttctgccg	10	11	3	1			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr16:10855244G>C	uc002daa.1	+	7	653	c.630G>C	c.(628-630)cgG>cgC	p.R210R	FAM18A_uc010uyr.1_Non-coding_Transcript|FAM18A_uc010uys.1_Non-coding_Transcript|FAM18A_uc010uyt.1_Non-coding_Transcript|FAM18A_uc010bun.2_Non-coding_Transcript|FAM18A_uc010uyu.1_Non-coding_Transcript|FAM18A_uc002dad.3_Non-coding_Transcript|NUBP1_uc010bum.1_Silent_p.R75R|NUBP1_uc002dab.1_Silent_p.R199R	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	210					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						AGGATGTCCGGAAAGAAATCA	0.537													19	47					0	0	1	0	0	C	10855244	G	C	10855244	2	2	22	1	0	0	0	0	0	0	0	1	10715	1161	41	4		4	NUBP1	16	10855244	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	8496651	10855244	79499509	22	493											
MYOCD	93649	broad.mit.edu	37	chr17	12656261	12656261	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggatgcagcttcagaagcaGaaaaggaataactgttcaga	11	6	2	3			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr17:12656261G>A	uc002gno.2	+	9	1955	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	MYOCD_uc002gnn.2_Silent_p.Q552Q|MYOCD_uc002gnp.1_Silent_p.Q456Q|MYOCD_uc002gnq.2_Silent_p.Q271Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	552					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCAGAAGCAGAAAAGGAATA	0.522													7	51					0	0	1	0	0	A	12656261	G	A	12656261	2	1	22	1	0	0	0	0	0	0	0	1	10087	933	33	2		2	MYOCD	17	12656261	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		12656261	68538949	23	494											
ZNF236	7776	broad.mit.edu	37	chr18	74625777	74625777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggtcgcacaccggggaaaAgccctacaagtgcaagctct	12	13	1	0			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr18:74625777A>G	uc002lmi.3	+	17	3176	c.2978A>G	c.(2977-2979)aAg>aGg	p.K993R	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	993					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACCGGGGAAAAGCCCTACAAG	0.517													3	111					0	0	1	0	0	G	74625777	A	G	74625777	3	3	22	1	0	0	0	0	1	0	0	0	17786	72	3	3	3048	3	ZNF236	18	74625777	Missense_Mutation	SNP	A	TCGA-BJ-A28Z-01A-11D-A16O-08		74625777	3451471	24	495											
SDF4	51150	broad.mit.edu	37	chr1	1152973	1152973	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacttgagcacctcctcGggctccaggtggtggttctg	13	12	1	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr1:1152973G>T	uc001adh.4	-	6	1337	c.1008C>A	c.(1006-1008)ccC>ccA	p.P336P	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_3'UTR|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	336	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCACCTCCTCGGGCTCCAGGT	0.642													4	77					0	0	1	0	0	T	1152973	G	T	1152973	2	4	23	1	0	0	0	0	0	0	0	1	13962	1103	39	4		4	SDF4	1	1152973	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		1152973	248097648	1	496											
OR2G3	81469	broad.mit.edu	37	chr1	247769085	247769085	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacttttttctcagcaacctCtctttactggacatctgctt	4	12	3	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr1:247769085C>G	uc010pyz.2	+	0	198	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAGCAACCTCTCTTTACTGG	0.458													4	324					0	0	1	0	0	G	247769085	C	G	247769085	2	3	23	1	0	0	0	0	0	0	0	1	10999	900	32	4		4	OR2G3	1	247769085	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	246616112	247769085	1481536	2	497											
PLCL1	5334	broad.mit.edu	37	chr2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgggctgtcgaagcGttgaactcgatgtaagtgat	13	5	0	3			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:198949565G>A	uc010fsp.3	+	1	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_uc002uuv.4_Missense_Mutation_p.V363I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	442	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408													38	30					0	0	1	0	0	A	198949565	G	A	198949565	3	1	23	1	0	0	0	0	1	0	0	0	12039	1145	40	1	1330	1	PLCL1	2	198949565	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		198949565	44249808	3	498											
KCTD18	130535	broad.mit.edu	37	chr2	201362461	201362461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcttccatgaaataaaAgaattgcactgtaccttttc	5	10	0	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:201362461A>G	uc002uvu.1	-	4	810	c.676T>C	c.(676-678)Ttt>Ctt	p.F226L	KCTD18_uc002uvs.3_Intron|KCTD18_uc002uvt.3_Intron	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGAAATAAAAGAATTGCACT	0.323													3	174					0	0	1	0	0	G	201362461	A	G	201362461	3	3	23	1	0	0	0	0	1	0	0	0	8105	87	3	3		3	KCTD18	2	201362461	Missense_Mutation	SNP	A	TCGA-BJ-A290-01A-11D-A17V-08	2412896	201362461	41836912	4	499											
COL6A3	1293	broad.mit.edu	37	chr2	238280733	238280733	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggcattgcccacgttgatCtgccgccctcccttgggcct	11	16	1	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:238280733C>A	uc002vwl.2	-	8	4212	c.3927G>T	c.(3925-3927)caG>caT	p.Q1309H	COL6A3_uc002vwo.2_Missense_Mutation_p.Q1103H|COL6A3_uc010znj.1_Missense_Mutation_p.Q702H|COL6A3_uc002vwq.3_Missense_Mutation_p.Q1103H|COL6A3_uc002vwr.3_Missense_Mutation_p.Q902H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1309	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1308W(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACGTTGATCTGCCGCCCTC	0.617													26	80					0	0	1	0	0	A	238280733	C	A	238280733	3	1	23	1	0	0	0	0	1	0	0	0	3701	912	32	4	5797	4	COL6A3	2	238280733	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	36918272	238280733	4918640	5	500											
KBTBD8	84541	broad.mit.edu	37	chr3	67058637	67058637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgagctactcaagtgactgTtgaagaacacgtcttcagaa	9	9	3	4			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:67058637T>C	uc003dmy.3	+	3	1687	c.1634T>C	c.(1633-1635)gTt>gCt	p.V545A	KBTBD8_uc011bfv.2_Missense_Mutation_p.V103A	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	545										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CAAGTGACTGTTGAAGAACAC	0.403													9	79					0	0	1	0	0	C	67058637	T	C	67058637	3	2	23	1	0	0	0	0	1	0	0	0	7999	1725	60	3	1648	3	KBTBD8	3	67058637	Missense_Mutation	SNP	T	TCGA-BJ-A290-01A-11D-A17V-08		67058637	130963793	6	501											
ZIC1	7545	broad.mit.edu	37	chr3	147128058	147128058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagctcaaccccagttcGcacgagctggcttcggccgg	11	15	2	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:147128058G>A	uc003ewe.3	+	0	878	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	53					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S53L(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACCCCAGTTCGCACGAGCTGG	0.721													22	33					0	0	1	0	0	A	147128058	G	A	147128058	2	1	23	1	0	0	0	0	0	0	0	1	17675	1074	38	1		1	ZIC1	3	147128058	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	80069421	147128058	50894372	7	502											
HTR3C	170572	broad.mit.edu	37	chr3	183777419	183777419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccctgccagtggcaccCccctcatcagtatggctcct	8	18	2	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:183777419C>T	uc003fmk.3	+	6	950	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	306						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGGCACCCCCCTCATCAG	0.582													10	133					0	0	1	0	0	T	183777419	C	T	183777419	3	4	23	1	0	0	0	0	1	0	0	0	7446	623	22	2	942	2	HTR3C	3	183777419	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	36649361	183777419	14245011	8	503											
IL7R	3575	broad.mit.edu	37	chr5	35875685	35875685	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acatctttgtaagaaaccaaGaaaagtgagtgtttttggtg	10	4	1	3			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:35875685G>C	uc003jjs.3	+	6	961	c.872G>C	c.(871-873)aGa>aCa	p.R291T	IL7R_uc011coo.2_Missense_Mutation_p.E260Q|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	291					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAAACCAAGAAAAGTGAGT	0.413			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						11	20					0	0	1	0	0	C	35875685	G	C	35875685	3	2	23	1	0	0	0	0	1	0	0	0	7705	942	33	4	898	4	IL7R	5	35875685	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		35875685	145039575	9	504											
TTC37	9652	broad.mit.edu	37	chr5	94858951	94858951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagctttcaaatagtatagtCctcgcctaagccaggcccat	7	13	1	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:94858951C>A	uc003klb.3	-	17	2009	c.1712G>T	c.(1711-1713)gGa>gTa	p.G571V	TTC37_uc010jbf.2_Missense_Mutation_p.G523V	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	571							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATAGTATAGTCCTCGCCTAAG	0.393													45	78					0	0	1	0	0	A	94858951	C	A	94858951	3	1	23	1	0	0	0	0	1	0	0	0	16702	855	30	4	3086	4	TTC37	5	94858951	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	58983266	94858951	86056309	10	505											
SHROOM1	134549	broad.mit.edu	37	chr5	132158517	132158517	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaagagggaagggcggctGaactggaggacaggtccctg	19	7	0	3			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:132158517G>A	uc003kxx.3	-	9	3335	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	SHROOM1_uc003kxy.2_Nonsense_Mutation_p.Q839*	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	844					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGGCGGCTGAACTGGAGGA	0.622													15	17					0	0	1	0	0	A	132158517	G	A	132158517	4	1	23	1	0	0	0	0	0	1	0	0	14293	1299	45	2	32	2	SHROOM1	5	132158517	Nonsense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	37299566	132158517	48756743	11	506											
TRIM7	81786	broad.mit.edu	37	chr5	180622520	180622520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcccagtgatgccggccCgaggagaagccgcaggacgc	14	15	0	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:180622520C>T	uc003mmz.1	-	6	1249	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	TRIM7_uc003mmv.1_Silent_p.S212S|TRIM7_uc003mmw.1_Silent_p.S186S|TRIM7_uc003mmy.1_Silent_p.S186S|TRIM7_uc003mmx.1_Silent_p.S186S	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	394	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GATGCCGGCCCGAGGAGAAGC	0.706													8	58					0	0	1	0	0	T	180622520	C	T	180622520	2	4	23	1	0	0	0	0	0	0	0	1	16540	639	23	1		1	TRIM7	5	180622520	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	48464003	180622520	292740	12	507											
JARID2	3720	broad.mit.edu	37	chr6	15513524	15513524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggcctccactcctcCgcacgctatggcagccacga	11	17	0	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:15513524C>T	uc003nbj.3	+	15	3565	c.3321C>T	c.(3319-3321)tcC>tcT	p.S1107S	JARID2_uc011div.2_Silent_p.S935S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1107					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCACTCCTCCGCACGCTATG	0.637													15	14					0	0	1	0	0	T	15513524	C	T	15513524	2	4	23	1	0	0	0	0	0	0	0	1	7945	639	23	1		1	JARID2	6	15513524	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		15513524	155601543	13	508											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156708	26156708	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcaagtctgcaggtgcGgccaagcgcaaagcgtctgg	15	13	2	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:26156708G>C	uc003ngq.3	+	0	150	c.90G>C	c.(88-90)gcG>gcC	p.A30A	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	30					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G29D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTGCAGGTGCGGCCAAGCGCA	0.642													47	72					0	0	1	0	0	C	26156708	G	C	26156708	2	2	23	1	0	0	0	0	0	0	0	1	7126	1103	39	4		4	HIST1H1E	6	26156708	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	10643184	26156708	144958359	14	509											
STEAP2	261729	broad.mit.edu	37	chr7	89856412	89856412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gattgaaaatttacccctacGactctttactctctggagag	7	10	2	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:89856412G>T	uc010len.3	+	3	1126	c.620G>T	c.(619-621)cGa>cTa	p.R207L	STEAP2_uc003ujy.2_Missense_Mutation_p.R249L|STEAP2_uc003uka.3_Missense_Mutation_p.R207L|STEAP2_uc003ujz.3_Missense_Mutation_p.R207L|STEAP2_uc003ukc.3_Missense_Mutation_p.R207L|STEAP2_uc003ukb.3_Missense_Mutation_p.R207L|STEAP2_uc003ukd.3_Missense_Mutation_p.R207L	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	207					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTACCCCTACGACTCTTTACT	0.438													24	37					0	0	1	0	0	T	89856412	G	T	89856412	3	4	23	1	0	0	0	0	1	0	0	0	15277	1058	37	4	626	4	STEAP2	7	89856412	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		89856412	69282251	15	510											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	34					0	0	1	0	0	T	140453136	A	T	140453136	3	4	23	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A290-01A-11D-A17V-08	50596724	140453136	18685527	16	511											
TG	7038	broad.mit.edu	37	chr8	133880376	133880376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagtaccaggtggatgcCcagccccttcgtccctgtga	11	14	0	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr8:133880376C>T	uc003ytw.3	+	1	125	c.84C>T	c.(82-84)gcC>gcT	p.A28A		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	28					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGGATGCCCAGCCCCTTC	0.547													13	37					0	0	1	0	0	T	133880376	C	T	133880376	2	4	23	1	0	0	0	0	0	0	0	1	15810	610	22	2		2	TG	8	133880376	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		133880376	12483646	17	512											
TEK	7010	broad.mit.edu	37	chr9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcattgcctctgggtggcGcccccatgagcccatcacca	10	17	2	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:27157925G>A	uc003zqi.4	+	1	591	c.149G>A	c.(148-150)cGc>cAc	p.R50H	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.R50H|TEK_uc011lno.2_Missense_Mutation_p.R50H|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.R27H	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	50	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R50H(1)|p.W49*(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTGGGTGGCGCCCCCATGAG	0.502													50	81					0	0	1	0	0	A	27157925	G	A	27157925	3	1	23	1	0	0	0	0	1	0	0	0	15748	1087	38	1	155	1	TEK	9	27157925	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		27157925	114055506	18	513											
IL11RA	3590	broad.mit.edu	37	chr9	34659885	34659885	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccggaggcctggggaActccgagcactggtgagaga	18	10	0	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:34659885A>C	uc003zvi.3	+	8	2296	c.940A>C	c.(940-942)Act>Cct	p.T314P	IL11RA_uc011loq.2_Missense_Mutation_p.T314P|IL11RA_uc003zvj.3_Missense_Mutation_p.T314P|IL11RA_uc003zvk.3_Missense_Mutation_p.T314P|IL11RA_uc010mke.3_Missense_Mutation_p.T196P	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	314						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GGCCTGGGGAACTCCGAGCAC	0.592													16	29					0	0	1	0	0	C	34659885	A	C	34659885	3	2	23	1	0	0	0	0	1	0	0	0	7623	43	2	5	970	5	IL11RA	9	34659885	Missense_Mutation	SNP	A	TCGA-BJ-A290-01A-11D-A17V-08	7501960	34659885	106553546	19	514											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293827	71293827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccacagcccccactgccGgagccacagcccccacagcc	9	22	0	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:71293827G>A	uc001oqu.3	-	0	95	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	19						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACTGCCGGAGCCACAGC	0.632													18	68					0	0	1	0	0	A	71293827	G	A	71293827	2	1	23	1	0	0	0	0	0	0	0	1	8560	1103	39	1		1	KRTAP5-11	11	71293827	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		71293827	63712689	20	515											
OR8G1	26494	broad.mit.edu	37	chr11	124121061	124121061	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttgtccccagcctgacCatcctttgctcttacatctt	4	16	2	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:124121061C>A	uc001pzx.3	+	0	639	c.639C>A	c.(637-639)acC>acA	p.T213T		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CCAGCCTGACCATCCTTTGCT	0.458													31	30					0	0	1	0	0	A	124121061	C	A	124121061	2	1	23	1	0	0	0	0	0	0	0	1	11234	581	21	4		4	OR8G1	11	124121061	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	52827234	124121061	10885455	21	516											
LRTM2	654429	broad.mit.edu	37	chr12	1943779	1943779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctatggctgcatctaCgcctccctcatggccaagta	9	15	2	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:1943779C>T	uc001qjt.2	+	4	1811	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.Y335Y|LRTM2_uc010sdx.1_Silent_p.Y335Y|LRTM2_uc001qjv.2_Silent_p.Y97Y	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	335						integral to membrane		p.Y335Y(4)|p.I334F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGCATCTACGCCTCCCTCA	0.637													40	40					0	0	1	0	0	T	1943779	C	T	1943779	2	4	23	1	0	0	0	0	0	0	0	1	9045	547	19	1		1	LRTM2	12	1943779	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		1943779	131908116	22	517											
KRT5	3852	broad.mit.edu	37	chr12	52913586	52913586	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgctcgcgctcctcggtCctcaccctctggatgctggg	11	16	3	0	rs61726459		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:52913586C>T	uc001san.3	-	0	658	c.495G>A	c.(493-495)agG>agA	p.R165R	KRT5_uc009zmh.3_Silent_p.R165R	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	165	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522													7	148					0	0	1	0	0	T	52913586	C	T	52913586	2	4	23	1	0	0	0	0	0	0	0	1	8479	854	30	2		2	KRT5	12	52913586	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	50969807	52913586	80938309	23	518											
STAB2	55576	broad.mit.edu	37	chr12	104100607	104100607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcttctttggcccccaatGccagccctgcccagggaatg	11	16	1	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:104100607G>T	uc001tjw.3	+	37	4220	c.4034G>T	c.(4033-4035)tGc>tTc	p.C1345F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1345	Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCCCCCAATGCCAGCCCTGC	0.547													21	45					0	0	1	0	0	T	104100607	G	T	104100607	3	4	23	1	0	0	0	0	1	0	0	0	15237	1319	46	4	4184	4	STAB2	12	104100607	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	51187021	104100607	29751288	24	519											
AGBL1	123624	broad.mit.edu	37	chr15	86838596	86838596	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccttggtgaccatcacGgccatgcctgagtccaacag	10	14	1	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr15:86838596G>C	uc002blz.1	+	15	2273	c.2193G>C	c.(2191-2193)acG>acC	p.T731T	AGBL1_uc002bma.1_Silent_p.T462T|AGBL1_uc002bmb.1_Silent_p.T425T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	731					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.T731T(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498													3	69					0	0	1	0	0	C	86838596	G	C	86838596	2	2	23	1	0	0	0	0	0	0	0	1	375	1103	39	4		4	AGBL1	15	86838596	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		86838596	15692796	25	520											
UMOD	7369	broad.mit.edu	37	chr16	20355366	20355366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccattggctgtagggcGgtcttcaggctgactttcat	12	10	3	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr16:20355366G>A	uc002dhb.3	-	6	1539	c.1410C>T	c.(1408-1410)acC>acT	p.T470T	UMOD_uc002dgz.3_Silent_p.T437T|UMOD_uc002dha.3_Silent_p.T437T	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	437	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCTGTAGGGCGGTCTTCAGGC	0.537													22	43					0	0	1	0	0	A	20355366	G	A	20355366	2	1	23	1	0	0	0	0	0	0	0	1	16976	1103	39	1		1	UMOD	16	20355366	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		20355366	69999387	26	521											
MAP3K3	4215	broad.mit.edu	37	chr17	61759152	61759152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccctggccgaagctcaCctccccctggctatgttcct	8	17	1	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr17:61759152C>T	uc002jbe.3	+	8	688	c.622C>T	c.(622-624)Cct>Tct	p.P208S	MAP3K3_uc002jbf.3_Missense_Mutation_p.P208S|MAP3K3_uc002jbg.3_Missense_Mutation_p.P177S|MAP3K3_uc002jbh.3_Missense_Mutation_p.P208S|MAP3K3_uc010wpo.2_Missense_Mutation_p.P92S|MAP3K3_uc010wpp.2_Missense_Mutation_p.P177S	NM_203351	NP_976226	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA.	177					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGAAGCTCACCTCCCCCTGG	0.607													43	62					0	0	1	0	0	T	61759152	C	T	61759152	3	4	23	1	0	0	0	0	1	0	0	0	9251	507	18	2	652	2	MAP3K3	17	61759152	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		61759152	19436058	27	522											
RIT2	6014	broad.mit.edu	37	chr18	40503596	40503596	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaggggaatttcataggTgtggcggacctgaaaaatga	13	7	1	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr18:40503596T>A	uc002lav.3	-	3	540	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	RIT2_uc010dnf.3_Missense_Mutation_p.T123S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	123					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTCATAGGTGTGGCGGACC	0.493													64	111					0	0	1	0	0	A	40503596	T	A	40503596	3	1	23	1	0	0	0	0	1	0	0	0	13387	1696	59	5	294	5	RIT2	18	40503596	Missense_Mutation	SNP	T	TCGA-BJ-A290-01A-11D-A17V-08		40503596	37573652	28	523											
CEACAM8	1088	broad.mit.edu	37	chr19	43093666	43093666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actcgctgggttctgtatttCacattcatagggtcctacgt	9	10	3	0			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:43093666C>G	uc002oud.2	-	2	748	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	216	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTCTGTATTTCACATTCATAG	0.537													4	235					0	0	1	0	0	G	43093666	C	G	43093666	3	3	23	1	0	0	0	0	1	0	0	0	3198	835	29	4	415	4	CEACAM8	19	43093666	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		43093666	16035317	29	524											
GRIN2D	2906	broad.mit.edu	37	chr19	48908178	48908178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtgggctgggagcaccGcggagcgctgacgctggacc	18	12	1	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:48908178G>A	uc002pjc.4	+	2	741	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	218						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.R218C(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGGGAGCACCGCGGAGCGCTG	0.682													10	131					0	0	1	0	0	A	48908178	G	A	48908178	3	1	23	1	0	0	0	0	1	0	0	0	6782	1087	38	1	659	1	GRIN2D	19	48908178	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	5814512	48908178	10220805	30	525											
SIGLEC6	946	broad.mit.edu	37	chr19	52033047	52033049	+	In_Frame_Del	DEL	CTT	CTT	-													agcacggcaggtgaaatctcCttcttctgcagaccctactt							TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:52033047_52033049delCTT	uc002pwy.3	-	4	1149_1151	c.941_943delAAG	c.(940-945)gaagga>gga	p.E314del	SIGLEC6_uc002pwz.3_In_Frame_Del_p.E298del|SIGLEC6_uc010ydb.2_In_Frame_Del_p.E262del|SIGLEC6_uc010ydc.2_In_Frame_Del_p.E325del|SIGLEC6_uc002pxa.3_In_Frame_Del_p.E314del|SIGLEC6_uc010eoz.2_In_Frame_Del_p.E303del|SIGLEC6_uc010epa.2_In_Frame_Del_p.E303del|SIGLEC6_uc010epb.2_In_Frame_Del_p.E267del	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	314	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGAAATCTCCTTCTTCTGCAGA	0.601													32	56	---	---	---	---						-	52033049	CTT	-	52033047	7	5	23	1	0	1	0	1	0	0	0	0	14312	690	24	0	434	0	SIGLEC6	19	52033047	In_Frame_Del	DEL	CTT	TCGA-BJ-A290-01A-11D-A17V-08	3124869	52033047	7095936	31	526											
TMC2	117532	broad.mit.edu	37	chr20	2594035	2594035	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctttgatacttatagcCagatgcattcttgggcattt	7	8	3	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr20:2594035C>T	uc010zpw.1	+	11	1860	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	TMC2_uc002wgf.1_Intron|TMC2_uc002wgg.1_Intron|TMC2_uc010zpx.1_Nonsense_Mutation_p.Q478*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	0						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TACTTATAGCCAGATGCATTC	0.413													22	24					0	0	1	0	0	T	2594035	C	T	2594035	4	4	23	1	0	0	0	0	0	1	0	0	15982	609	21	2		2	TMC2	20	2594035	Nonsense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		2594035	60431485	32	527											
PRIC285	85441	broad.mit.edu	37	chr20	62198473	62198473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagctgacaatggcgtcCgtgcagcggtagttctcgtg	14	9	1	2			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr20:62198473C>T	uc002yfm.2	-	6	3130	c.2238G>A	c.(2236-2238)acG>acA	p.T746T	PRIC285_uc002yfl.1_Silent_p.T177T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	746					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAATGGCGTCCGTGCAGCGGT	0.662													39	72					0	0	1	0	0	T	62198473	C	T	62198473	2	4	23	1	0	0	0	0	0	0	0	1	12485	639	23	1		1	PRIC285	20	62198473	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	59604438	62198473	827047	33	528											
COL6A2	1292	broad.mit.edu	37	chr21	47552224	47552224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggggcccggaggcacGcagagctgtccttcgtgttc	17	12	0	1			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr21:47552224G>A	uc002zia.1	+	27	2900	c.2818G>A	c.(2818-2820)Gca>Aca	p.A940T	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	940	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGGAGGCACGCAGAGCTGTC	0.657													9	19					0	0	1	0	0	A	47552224	G	A	47552224	3	1	23	1	0	0	0	0	1	0	0	0	3700	1087	38	1	3254	1	COL6A2	21	47552224	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		47552224	577671	34	529											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			56	87					0	0	1	0	0	C	115256529	T	C	115256529	3	2	24	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A2N7-01A-11D-A18F-08		115256529	133994092	1	530											
UNC50	25972	broad.mit.edu	37	chr2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggcaagacacacagccGgagcgaaacgctacaaatat	10	11	0	1			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr2:99226304G>A	uc010yvl.2	+	1	367	c.133G>A	c.(133-135)Gga>Aga	p.G45R	COA5_uc002syz.3_5'Flank|UNC50_uc002szc.4_Missense_Mutation_p.G28R|UNC50_uc002szb.3_Missense_Mutation_p.G28R	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	28					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483													4	191					0	0	1	0	0	A	99226304	G	A	99226304	3	1	24	1	0	0	0	0	1	0	0	0	16987	1117	39	1	84	1	UNC50	2	99226304	Missense_Mutation	SNP	G	TCGA-BJ-A2N7-01A-11D-A18F-08		99226304	143973069	2	531											
KIF9	64147	broad.mit.edu	37	chr3	47308733	47308733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcatagtgtgggaggcTataatcctgttggtctcacc	11	8	2	0			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr3:47308733T>C	uc010hjp.3	-	6	1216	c.612A>G	c.(610-612)atA>atG	p.I204M	KIF9_uc003cqx.3_Missense_Mutation_p.I204M|KIF9_uc003cqy.3_Missense_Mutation_p.I204M|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	204	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTGGGAGGCTATAATCCTGT	0.443													3	236					0	0	1	0	0	C	47308733	T	C	47308733	3	2	24	1	0	0	0	0	1	0	0	0	8310	1512	53	3	1824	3	KIF9	3	47308733	Missense_Mutation	SNP	T	TCGA-BJ-A2N7-01A-11D-A18F-08		47308733	150713697	3	532											
CHID1	66005	broad.mit.edu	37	chr11	883172	883172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgacaacaggctcacggGcatccttggaggtcgcgtag	13	14	1	0			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr11:883172G>A	uc010qwv.2	-	9	1159	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	CHID1_uc010qwu.1_Missense_Mutation_p.A342V|CHID1_uc001lsn.3_Missense_Mutation_p.A337V|CHID1_uc001lso.3_Missense_Mutation_p.A312V|CHID1_uc001lsm.3_Missense_Mutation_p.A312V|CHID1_uc001lsp.3_Missense_Mutation_p.A281V|CHID1_uc010qww.2_Missense_Mutation_p.A312V|AX747537_uc001lsq.1_5'Flank|AX747537_uc001lsr.1_5'Flank	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.	312					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AGGCTCACGGGCATCCTTGGA	0.622													4	144					0	0	1	0	0	A	883172	G	A	883172	3	1	24	1	0	0	0	0	1	0	0	0	3345	1203	42	2	262	2	CHID1	11	883172	Missense_Mutation	SNP	G	TCGA-BJ-A2N7-01A-11D-A18F-08		883172	134123344	4	533											
ASPSCR1	79058	broad.mit.edu	37	chr17	79966911	79966925	+	Splice_Site	DEL	AGCCCGTGGACCGGG	AGCCCGTGGACCGGG	-													cagccgcgccctctgcctccAgcccgtggaccgggagcccg							TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	aabbbea7-bee7-4732-aa63-bbeebc54dcd4	g.chr17:79966911_79966925delAGCCCGTGGACCGGG	uc002kcy.3	+	8	1031	c.934_splice	c.e8-1	p.P312_splice	ASPSCR1_uc002kcx.3_Splice_Site_p.P312_splice|ASPSCR1_uc021ufj.1_Splice_Site_p.P235_splice|ASPSCR1_uc002kda.3_Splice_Site_p.P235_splice|ASPSCR1_uc002kdb.1_Splice_Site_p.P235_splice	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	312		Breakpoint for translocation to form ASPSCR1-TFE3.					protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTCTGCCTCCAGCCCGTGGACCGGGAGCCCGTGGA	0.721			T	TFE3	alveolar soft part sarcoma								4	5	---	---	---	---						-	79966925	AGCCCGTGGACCGGG	-	79966911	8	5	24	1	0	1	0	1	0	0	1	0	1059	202	7	0	962	0	ASPSCR1	17	79966911	Splice_Site	DEL	AGCCCGTGGACCGGG	TCGA-BJ-A2N7-01A-11D-A18F-08		79966911	1228299	5	534											
DNASE2	1777	broad.mit.edu	37	chr19	12991827	12991827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggctgcaggcttcggcCcacggccccctccgggctgt	14	18	0	0			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr19:12991827C>T	uc002mvn.1	-	1	372	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	DNASE2_uc010xmr.1_Missense_Mutation_p.G76S	NM_001375	NP_001366	O00115	DNS2A_HUMAN	Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.	76					apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGGCTTCGGCCCACGGCCCCC	0.692													25	19					0	0	1	0	0	T	12991827	C	T	12991827	3	4	24	1	0	0	0	0	1	0	0	0	4664	623	22	2	876	2	DNASE2	19	12991827	Missense_Mutation	SNP	C	TCGA-BJ-A2N7-01A-11D-A18F-08		12991827	46137156	6	535											
ERG	2078	broad.mit.edu	37	chr21	39795356	39795356	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tggcacgataactctgcgctCgttcgtggtcatgtttgggg	14	9	2	0			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr21:39795356C>G	uc010gnw.3	-	4	680	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	ERG_uc021wjd.1_Missense_Mutation_p.E129Q|ERG_uc002yxa.3_Missense_Mutation_p.E122Q|ERG_uc011aek.2_Missense_Mutation_p.E30Q|ERG_uc010gnv.3_Missense_Mutation_p.E30Q|ERG_uc010gnx.3_Missense_Mutation_p.E129Q|ERG_uc011ael.2_Missense_Mutation_p.E129Q|ERG_uc002yxb.3_Missense_Mutation_p.E129Q|ERG_uc011aem.1_Missense_Mutation_p.E122Q|ERG_uc002yxc.4_Missense_Mutation_p.E129Q	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	129	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ACTCTGCGCTCGTTCGTGGTC	0.597			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								12	23					0	0	1	0	0	G	39795356	C	G	39795356	3	3	24	1	0	0	0	0	1	0	0	0	5222	893	31	4	1107	4	ERG	21	39795356	Missense_Mutation	SNP	C	TCGA-BJ-A2N7-01A-11D-A18F-08		39795356	8334539	7	536											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			60	109					0	0	1	0	0	C	115256529	T	C	115256529	3	2	25	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08		115256529	133994092	1	537											
CFHR5	81494	broad.mit.edu	37	chr1	196964999	196964999	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatacaatgtgtggatGgagaatggacaactttaccc	10	6	0	2			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:196964999G>T	uc001gts.4	+	4	888	c.760G>T	c.(760-762)Gga>Tga	p.G254*		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	254	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGTGTGGATGGAGAATGGAC	0.308													4	37					0	0	1	0	0	T	196964999	G	T	196964999	4	4	25	1	0	0	0	0	0	1	0	0	3288	1349	47	4	778	4	CFHR5	1	196964999	Nonsense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	81708470	196964999	52285622	2	538											
ADCY3	109	broad.mit.edu	37	chr2	25061434	25061434	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggctgcccccatcgcctggCtccacatcaaactccccttt	6	20	1	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:25061434C>A	uc010ykm.2	-	6	1612	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	ADCY3_uc002rfr.4_Missense_Mutation_p.E104D|ADCY3_uc002rfs.4_Missense_Mutation_p.E471D	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	471					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCGCCTGGCTCCACATCAA	0.577													5	149					0	0	1	0	0	A	25061434	C	A	25061434	3	1	25	1	0	0	0	0	1	0	0	0	295	796	28	4	2081	4	ADCY3	2	25061434	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		25061434	218137939	3	539											
SCN9A	6335	broad.mit.edu	37	chr2	167142878	167142878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaacctcttttcatgtgCtcgcctatgcccttcgacac	6	15	2	1			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:167142878C>T	uc010fpl.3	-	10	1911	c.1570G>A	c.(1570-1572)Gca>Aca	p.A524T	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.A395T|SCN9A_uc002uds.1_Missense_Mutation_p.A395T|SCN9A_uc002udt.1_Missense_Mutation_p.A395T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	524						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R523L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTTCATGTGCTCGCCTATGC	0.443													12	263					0	0	1	0	0	T	167142878	C	T	167142878	3	4	25	1	0	0	0	0	1	0	0	0	13925	797	28	2	4431	2	SCN9A	2	167142878	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08	142081444	167142878	76056495	4	540											
FKBPL	63943	broad.mit.edu	37	chr6	32096729	32096729	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggctcccgctccaacacccGgtcacagctctgggctgcca	10	18	2	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr6:32096729G>C	uc003nzr.3	-	1	1099	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.R277G	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	277					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TCCAACACCCGGTCACAGCTC	0.592													9	83					0	0	1	0	0	C	32096729	G	C	32096729	3	2	25	1	0	0	0	0	1	0	0	0	5916	1115	39	4	224	4	FKBPL	6	32096729	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08		32096729	139018338	5	541											
ZNF804B	219578	broad.mit.edu	37	chr7	88965206	88965206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaattcaacttgcaccatcAggctgtaacagacaagcatt	6	11	2	1			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr7:88965206A>G	uc011khi.2	+	3	3448	c.2910A>G	c.(2908-2910)tcA>tcG	p.S970S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	970						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCACCATCAGGCTGTAACA	0.408										HNSCC(36;0.09)			3	98					0	0	1	0	0	G	88965206	A	G	88965206	2	3	25	1	0	0	0	0	0	0	0	1	18168	175	7	3		3	ZNF804B	7	88965206	Silent	SNP	A	TCGA-BJ-A2N8-01A-11D-A18F-08		88965206	70173457	6	542											
RET	5979	broad.mit.edu	37	chr10	43607566	43607566	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgtggccgaggaggcgggCtgccccctgtcctgtgcagt	17	12	0	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr10:43607566C>A	uc001jal.3	+	7	1732	c.1542C>A	c.(1540-1542)ggC>ggA	p.G514G	RET_uc001jak.1_Silent_p.G514G|RET_uc010qez.1_Silent_p.G260G	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	514					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.A513G(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGGAGGCGGGCTGCCCCCTGT	0.662		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				3	6					0	0	1	0	0	A	43607566	C	A	43607566	2	1	25	1	0	0	0	0	0	0	0	1	13235	784	28	4		4	RET	10	43607566	Silent	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		43607566	91927181	7	543											
WNT5B	81029	broad.mit.edu	37	chr12	1741882	1741882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcatcggtgcccagcccGtgtgcagtcagcttcccggg	12	14	2	0	rs138238149	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr12:1741882G>A	uc009zdq.3	+	2	381	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	WNT5B_uc001qjj.3_Missense_Mutation_p.V47M|WNT5B_uc001qjk.3_Missense_Mutation_p.V47M|WNT5B_uc001qjl.3_Missense_Mutation_p.V47M	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	47					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCCCAGCCCGTGTGCAGTCA	0.567													19	120					0	0	1	0	0	A	1741882	G	A	1741882	3	1	25	1	0	0	0	0	1	0	0	0	17389	1145	40	1	145	1	WNT5B	12	1741882	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08		1741882	132110013	8	544											
GTF2F2	2963	broad.mit.edu	37	chr13	45725876	45725876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgatattggtggaaaaCcagcttcagtcagtgctcct	9	9	3	1			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr13:45725876C>T	uc001uzw.3	+	3	374	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_004128	NP_004119	P13984	T2FB_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 2, 30kDa (GTF2F2), mRNA.	72					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TGGTGGAAAACCAGCTTCAGT	0.378													4	82					0	0	1	0	0	T	45725876	C	T	45725876	3	4	25	1	0	0	0	0	1	0	0	0	6859	507	18	2	228	2	GTF2F2	13	45725876	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		45725876	69444002	9	545											
OR4N4	283694	broad.mit.edu	37	chr15	22383218	22383218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtcattattatacttcTtatgtttggacctgctatct	6	8	3	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr15:22383218T>C	uc001yuc.1	+	6	1727	c.746T>C	c.(745-747)cTt>cCt	p.L249P	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.L249P	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTATACTTCTTATGTTTGGA	0.468													4	209					0	0	1	0	0	C	22383218	T	C	22383218	3	2	25	1	0	0	0	0	1	0	0	0	11078	1609	56	3	748	3	OR4N4	15	22383218	Missense_Mutation	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08		22383218	80148174	10	546											
THOC1	9984	broad.mit.edu	37	chr18	246403	246403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttttttcttgaggccTgagtatcatctaatttataa	5	8	4	2			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:246403T>C	uc002kkj.4	-	10	879	c.839A>G	c.(838-840)cAg>cGg	p.Q280R	THOC1_uc002kkl.2_Missense_Mutation_p.Q280R	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	280					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTGAGGCCTGAGTATCATC	0.269													3	61					0	0	1	0	0	C	246403	T	C	246403	3	2	25	1	0	0	0	0	1	0	0	0	15861	1580	55	3	1178	3	THOC1	18	246403	Missense_Mutation	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08		246403	77830845	11	547											
CDH7	1005	broad.mit.edu	37	chr18	63477091	63477091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggcctactacacgctccGagctcaagcgctggataggc	12	14	1	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:63477091G>A	uc002ljz.3	+	2	687	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CDH7_uc002lka.3_Missense_Mutation_p.R121Q|CDH7_uc002lkb.3_Missense_Mutation_p.R121Q	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA.	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R121L(3)|p.R121*(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACACGCTCCGAGCTCAAGCG	0.493													7	55					0	0	1	0	0	A	63477091	G	A	63477091	3	1	25	1	0	0	0	0	1	0	0	0	3115	1058	37	1	368	1	CDH7	18	63477091	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	63230688	63477091	14600157	12	548											
FKRP	79147	broad.mit.edu	37	chr19	47259967	47259967	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacgtggacctgtggcccttCtacccccgcaatggcgtcat	10	16	2	0			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr19:47259967C>G	uc002pfn.2	+	3	1557	c.1260C>G	c.(1258-1260)ttC>ttG	p.F420L	FKRP_uc002pfp.2_Missense_Mutation_p.F420L|FKRP_uc021uwj.1_Missense_Mutation_p.F420L	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	420						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TGTGGCCCTTCTACCCCCGCA	0.627													2	13					0	0	1	0	0	G	47259967	C	G	47259967	3	3	25	1	0	0	0	0	1	0	0	0	5917	912	32	4	1262	4	FKRP	19	47259967	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		47259967	11869016	13	549											
LPAR4	2846	broad.mit.edu	37	chrX	78010703	78010703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgacaccctctgcaagAtctctggaactgcattcctt	8	12	2	2			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:78010703A>G	uc010nme.3	+	1	742	c.337A>G	c.(337-339)Atc>Gtc	p.I113V	LPAR4_uc022bzj.1_Missense_Mutation_p.I113V	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	113						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCTGCAAGATCTCTGGAAC	0.428													4	148					0	0	1	0	0	G	78010703	A	G	78010703	3	3	25	1	0	0	0	0	1	0	0	0	8907	333	12	3	339	3	LPAR4	23	78010703	Missense_Mutation	SNP	A	TCGA-BJ-A2N8-01A-11D-A18F-08		78010703	77259857	14	550											
NGFRAP1	27018	broad.mit.edu	37	chrX	102632596	102632596	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aataggcagatcaatgatggGatgggtggagatggagatga	17	2	1	5			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:102632596G>C	uc004eki.3	+	2	559	c.177G>C	c.(175-177)ggG>ggC	p.G59G	NGFRAP1_uc004ekh.3_Silent_p.G49G|NGFRAP1_uc004ekj.1_Silent_p.G59G	NM_206915	NP_996800	Q00994	BEX3_HUMAN	Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA.	59					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	p.G59A(3)|p.G59G(2)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCAATGATGGGATGGGTGGAG	0.502													10	243					0	0	1	0	0	C	102632596	G	C	102632596	2	2	25	1	0	0	0	0	0	0	0	1	10397	1161	41	4		4	NGFRAP1	23	102632596	Silent	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	24621893	102632596	52637964	15	551											
KLHL13	90293	broad.mit.edu	37	chrX	117053625	117053625	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaataattttccttagaccGactttgctcacaccatgaag	5	11	2	2	rs75572880		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117053625G>A	uc011mtp.2	-	4	571	c.438C>T	c.(436-438)gtC>gtT	p.V146V	KLHL13_uc004eqk.3_Silent_p.V92V|KLHL13_uc004eql.3_Silent_p.V143V|KLHL13_uc011mtn.2_Intron|KLHL13_uc011mto.2_Silent_p.V137V|KLHL13_uc011mtq.2_Silent_p.V127V|KLHL13_uc004eqm.3_Silent_p.V101V|KLHL13_uc022cde.1_Silent_p.V127V	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	143	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTTAGACCGACTTTGCTCA	0.343													4	78					0	0	1	0	0	A	117053625	G	A	117053625	2	1	25	1	0	0	0	0	0	0	0	1	8369	1045	37	1		1	KLHL13	23	117053625	Silent	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	14421029	117053625	38216935	16	552											
DOCK11	139818	broad.mit.edu	37	chrX	117815662	117815662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctattgtgatataggtcaaTgctggtccattagcatatgc	9	7	2	1			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117815662T>C	uc004eqp.2	+	50	5931	c.5868T>C	c.(5866-5868)aaT>aaC	p.N1956N	DOCK11_uc004eqq.2_Silent_p.N1735N	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1956	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATAGGTCAATGCTGGTCCAT	0.338													21	106					0	0	1	0	0	C	117815662	T	C	117815662	2	2	25	1	0	0	0	0	0	0	0	1	4686	1461	51	3		3	DOCK11	23	117815662	Silent	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08	762037	117815662	37454898	17	553											
SLAMF1	6504	broad.mit.edu	37	chr1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccttcctgctttcccGtatccccagggtgagattct	7	15	1	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:160607074G>A	uc001fwl.4	-	1	668	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	108					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468													4	72					0	0	1	0	0	A	160607074	G	A	160607074	3	1	26	1	0	0	0	0	1	0	0	0	14367	1144	40	1	709	1	SLAMF1	1	160607074	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		160607074	88643547	1	554											
RFWD2	64326	broad.mit.edu	37	chr1	176054931	176054931	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatacgagacatcctTgtagaaaagtaacactgctc	8	10	0	3			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:176054931T>C	uc001gku.1	-	9	1378	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	RFWD2_uc001gkv.1_Silent_p.T350T|RFWD2_uc001gkw.1_Silent_p.T134T|RFWD2_uc009wwv.2_Silent_p.T173T|RFWD2_uc001gkt.1_Silent_p.T213T	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	374					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T374I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGACATCCTTGTAGAAAAGT	0.348													3	86					0	0	1	0	0	C	176054931	T	C	176054931	2	2	26	1	0	0	0	0	0	0	0	1	13260	1799	63	3		3	RFWD2	1	176054931	Silent	SNP	T	TCGA-BJ-A2N9-01A-11D-A18F-08	15447857	176054931	73195690	2	555											
SPOCK3	50859	broad.mit.edu	37	chr4	167810357	167810357	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttcacatttgactgagatCtgttttcctaagacacatgc	6	11	2	3			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr4:167810357C>A	uc011cjq.1	-	4	606	c.549G>T	c.(547-549)caG>caT	p.Q183H	SPOCK3_uc021xuf.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjr.1_Missense_Mutation_p.Q54H|SPOCK3_uc003iri.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjs.1_Missense_Mutation_p.Q123H|SPOCK3_uc003irj.1_Missense_Mutation_p.Q171H|SPOCK3_uc011cjt.1_Missense_Mutation_p.Q82H|SPOCK3_uc011cjp.2_Missense_Mutation_p.Q171H|SPOCK3_uc011cju.1_Missense_Mutation_p.Q78H|SPOCK3_uc011cjv.1_Missense_Mutation_p.Q76H|SPOCK3_uc003irk.4_Missense_Mutation_p.Q171H|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	174	Kazal-like.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACTGAGATCTGTTTTCCTA	0.328													22	33					0	0	1	0	0	A	167810357	C	A	167810357	3	1	26	1	0	0	0	0	1	0	0	0	15080	912	32	4	812	4	SPOCK3	4	167810357	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		167810357	23343919	3	556											
FILIP1	27145	broad.mit.edu	37	chr6	76022780	76022780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgttatctccaaagtcGcagtgctgttctcgtggtct	11	10	3	0			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr6:76022780G>A	uc010kbe.3	-	5	3307	c.2777C>T	c.(2776-2778)gCg>gTg	p.A926V	FILIP1_uc003phy.1_Missense_Mutation_p.A923V|FILIP1_uc003phz.3_Missense_Mutation_p.A824V|FILIP1_uc003pia.3_Missense_Mutation_p.A923V|FILIP1_uc003pib.1_Missense_Mutation_p.A675V	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	923										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAAAGTCGCAGTGCTGTT	0.473													24	76					0	0	1	0	0	A	76022780	G	A	76022780	3	1	26	1	0	0	0	0	1	0	0	0	5894	1087	38	1	881	1	FILIP1	6	76022780	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		76022780	95092287	4	557											
UBR5	51366	broad.mit.edu	37	chr8	103297922	103297922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgttgctagcttccaaaGcagctgctgcagctgcagca	12	12	0	0			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr8:103297922G>A	uc003ykr.2	-	38	5758	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	UBR5_uc003yks.2_Missense_Mutation_p.A1768V	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1768	Poly-Ala.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCTTCCAAAGCAGCTGCTGC	0.463													10	49					0	0	1	0	0	A	103297922	G	A	103297922	3	1	26	1	0	0	0	0	1	0	0	0	16902	971	34	2	3180	2	UBR5	8	103297922	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		103297922	43066100	5	558											
PTPRD	5789	broad.mit.edu	37	chr9	8499764	8499764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctgtttattgggcacGggtgagcgccatgagacttt	13	9	0	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr9:8499764G>A	uc003zkk.3	-	24	2948	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	735	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P735P(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATTGGGCACGGGTGAGCGCC	0.483										TSP Lung(15;0.13)			3	89					0	0	1	0	0	A	8499764	G	A	8499764	2	1	26	1	0	0	0	0	0	0	0	1	12799	1103	39	1		1	PTPRD	9	8499764	Silent	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		8499764	132713667	6	559											
IDE	3416	broad.mit.edu	37	chr10	94214212	94214212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaatcttcagagttttgCagccatgaagttaatatgtg	12	5	2	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr10:94214212C>T	uc001kia.3	-	24	3125	c.3049G>A	c.(3049-3051)Gca>Aca	p.A1017T	IDE_uc010qnp.2_Missense_Mutation_p.A462T|IDE_uc001khz.3_Missense_Mutation_p.A462T	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	1017					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGAGTTTTGCAGCCATGAAG	0.433													4	129					0	0	1	0	0	T	94214212	C	T	94214212	3	4	26	1	0	0	0	0	1	0	0	0	7493	710	25	2	14	2	IDE	10	94214212	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		94214212	41320535	7	560											
VWF	7450	broad.mit.edu	37	chr12	6204449	6204449	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttagcccagactcatttttaGagcttcaggctcgagatgta	9	9	2	3			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr12:6204449G>T	uc001qno.1	-	7	1326	c.945_splice	c.e7+1		VWF_uc001qnn.1_Intron|VWF_uc010set.1_Intron			P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.						blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCATTTTTAGAGCTTCAGGC	0.423													3	21					0	0	1	0	0	T	6204449	G	T	6204449	5	4	26	1	0	0	0	0	0	0	1	0	17243	957	33	4		4	VWF	12	6204449	Splice_Site	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		6204449	127647446	8	561											
TCP11L2	255394	broad.mit.edu	37	chr12	106715426	106715426	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaagctgtgtgctcccGtgcgagataatgatatcaga	13	7	1	3			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr12:106715426G>C	uc001tln.3	+	4	751	c.577G>C	c.(577-579)Gtg>Ctg	p.V193L	TCP11L2_uc001tll.3_Missense_Mutation_p.V193L|TCP11L2_uc001tlm.3_Missense_Mutation_p.V193L	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	193										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GTGTGCTCCCGTGCGAGATAA	0.493													3	82					0	0	1	0	0	C	106715426	G	C	106715426	3	2	26	1	0	0	0	0	1	0	0	0	15712	1145	40	4	591	4	TCP11L2	12	106715426	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08	100510977	106715426	27136469	9	562											
TBC1D24	57465	broad.mit.edu	37	chr16	2569368	2569368	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtggcagtcctcatcGccaactccctgaatgacgac	11	13	1	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr16:2569368G>T	uc002cqm.3	+	1	1230	c.1115G>T	c.(1114-1116)cGc>cTc	p.R372L	ATP6V0C_uc021tav.1_Missense_Mutation_p.A77S|ATP6V0C_uc002cqn.3_Missense_Mutation_p.A77S|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 2, mRNA.	0	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AGTCCTCATCGCCAACTCCCT	0.612													3	64					0	0	1	0	0	T	2569368	G	T	2569368	3	4	26	1	0	0	0	0	1	0	0	0	15611	1087	38	4		4	TBC1D24	16	2569368	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		2569368	87785385	10	563											
MYH1	4619	broad.mit.edu	37	chr17	10402290	10402290	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaatgacaagtggagcttaCctttatctcctcttcaagtt	7	9	3	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr17:10402290C>A	uc002gmo.3	-	29	4078	c.3984_splice	c.e29+1	p.K1328_splice	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1328						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGGAGCTTACCTTTATCTCC	0.398													5	56					0	0	1	0	0	A	10402290	C	A	10402290	5	1	26	1	0	0	0	0	0	0	1	0	10029	521	18	4	1882	4	MYH1	17	10402290	Splice_Site	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		10402290	70792920	11	564											
LPIN3	64900	broad.mit.edu	37	chr20	39984584	39984584	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgccccagacagcccTgtgatcctggagatcccctc	10	16	0	3			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr20:39984584T>C	uc010ggh.3	+	13	1807	c.1716T>C	c.(1714-1716)ccT>ccC	p.P572P	LPIN3_uc002xjx.3_Silent_p.P571P|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	571					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGACAGCCCTGTGATCCTGG	0.592													3	64					0	0	1	0	0	C	39984584	T	C	39984584	2	2	26	1	0	0	0	0	0	0	0	1	8920	1567	55	3		3	LPIN3	20	39984584	Silent	SNP	T	TCGA-BJ-A2N9-01A-11D-A18F-08		39984584	23040936	12	565											
PCNT	5116	broad.mit.edu	37	chr21	47783836	47783836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcgccctgcagctgatgCtggcccggagcaggtgggtt	16	12	0	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr21:47783836C>T	uc002zji.4	+	13	2703	c.2596C>T	c.(2596-2598)Ctg>Ttg	p.L866L	PCNT_uc002zjj.3_Silent_p.L748L	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	866					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCTGATGCTGGCCCGGAG	0.677													3	91					0	0	1	0	0	T	47783836	C	T	47783836	2	4	26	1	0	0	0	0	0	0	0	1	11590	796	28	2		2	PCNT	21	47783836	Silent	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		47783836	346059	13	566											
ARVCF	421	broad.mit.edu	37	chr22	19960732	19960732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggacacgatttcgtggAtggtgttgagcaccgccacc	13	11	0	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:19960732A>G	uc002zqz.3	-	13	2618	c.2348T>C	c.(2347-2349)aTc>aCc	p.I783T	ARVCF_uc002zqy.3_Missense_Mutation_p.I299T	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	783					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GATTTCGTGGATGGTGTTGAG	0.672													6	11					0	0	1	0	0	G	19960732	A	G	19960732	3	3	26	1	0	0	0	0	1	0	0	0	1003	333	12	3	564	3	ARVCF	22	19960732	Missense_Mutation	SNP	A	TCGA-BJ-A2N9-01A-11D-A18F-08		19960732	31343834	14	567											
SEC14L4	284904	broad.mit.edu	37	chr22	30890948	30890948	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcgatcttcctgcccaGctgcttgggacagagtcata	9	13	3	1			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:30890948G>A	uc003aid.2	-	6	524	c.424_splice	c.e6-1	p.L142_splice	SEC14L4_uc011akz.1_Splice_Site_p.L142_splice|SEC14L4_uc003aie.2_Splice_Site_p.L127_splice|SEC14L4_uc003aif.2_Splice_Site_p.L88_splice	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	142	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TTCCTGCCCAGCTGCTTGGGA	0.587													11	34					0	0	1	0	0	A	30890948	G	A	30890948	5	1	26	1	0	0	0	0	0	0	1	0	13984	985	34	2	830	2	SEC14L4	22	30890948	Splice_Site	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08	10930216	30890948	20413618	15	568											
WDR45	11152	broad.mit.edu	37	chrX	48933589	48933589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgcttctccaggctggggCagaggtcacagagccctagg	15	11	2	2			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chrX:48933589C>A	uc004dml.1	-	6	627	c.455G>T	c.(454-456)tGc>tTc	p.C152F	WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Missense_Mutation_p.C49F|WDR45_uc004dmj.1_Missense_Mutation_p.C112F|WDR45_uc004dmk.1_Missense_Mutation_p.C151F|WDR45_uc004dmn.1_Missense_Mutation_p.C42F|WDR45_uc004dmp.1_Missense_Mutation_p.C152F	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	151					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGGCTGGGGCAGAGGTCACA	0.597													11	12					0	0	1	0	0	A	48933589	C	A	48933589	3	1	26	1	0	0	0	0	1	0	0	0	17294	710	25	4	650	4	WDR45	23	48933589	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		48933589	106336971	16	569											
KIAA0319L	79932	broad.mit.edu	37	chr1	35915475	35915475	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaatgaactcaccaggtttCacctccacagtggtccggtc	8	13	2	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr1:35915475C>T	uc001byx.3	-	14	2604	c.2346G>A	c.(2344-2346)gtG>gtA	p.V782V	KIAA0319L_uc001byw.3_Silent_p.V224V|KIAA0319L_uc010ohv.1_Silent_p.V424V	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	782	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACCAGGTTTCACCTCCACAG	0.493													11	44					0	0	1	0	0	T	35915475	C	T	35915475	2	4	27	1	0	0	0	0	0	0	0	1	8169	813	29	2		2	KIAA0319L	1	35915475	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		35915475	213335146	1	570											
OXER1	165140	broad.mit.edu	37	chr2	42991084	42991084	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggggtggcagggccctccaGaggacccccccacagtggta	15	14	0	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991084G>C	uc002rss.3	-	0	318	c.236C>G	c.(235-237)tCt>tGt	p.S79C		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	79	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	p.S78fs*61(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGGCCCTCCAGAGGACCCCCC	0.627													9	20					0	0	1	0	0	C	42991084	G	C	42991084	3	2	27	1	0	0	0	0	1	0	0	0	11331	942	33	4	1039	4	OXER1	2	42991084	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		42991084	200208289	2	571			1	4		3	3	89	G		6.390699e-09
OXER1	165140	broad.mit.edu	37	chr2	42991137	42991137	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagaggagggtgagggagaGaaggagggagggagaacaga	23	2	0	5			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991137G>A	uc002rss.3	-	0	265	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	61	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gtgagggagagaaggagggag	0.612													8	20					0	0	1	0	0	A	42991137	G	A	42991137	2	1	27	1	0	0	0	0	0	0	0	1	11331	933	33	2		2	OXER1	2	42991137	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	53	42991137	200208236	3	572			1	4		3	3	89	G		6.390699e-09
OXER1	165140	broad.mit.edu	37	chr2	42991172	42991172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagaggaggagagagaggGagatggagagctcaggttat	18	3	1	5			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991172G>A	uc002rss.3	-	0	230	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	50	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gagagagagggagatggagag	0.602													6	39					0	0	1	0	0	A	42991172	G	A	42991172	3	1	27	1	0	0	0	0	1	0	0	0	11331	1174	41	2	1127	2	OXER1	2	42991172	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	35	42991172	200208201	4	573			1	4		3	3	89	G		6.390699e-09
SPC25	57405	broad.mit.edu	37	chr2	169732647	169732647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagatttctgcagccttTtcaacctctctgcattcgct	6	14	3	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:169732647T>C	uc002uel.3	-	4	517	c.386A>G	c.(385-387)aAa>aGa	p.K129R		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	129	Interaction with the N-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						CTGCAGCCTTTTCAACCTCTC	0.289													2	17					0	0	1	0	0	C	169732647	T	C	169732647	3	2	27	1	0	0	0	0	1	0	0	0	15021	1841	64	3	300	3	SPC25	2	169732647	Missense_Mutation	SNP	T	TCGA-BJ-A2NA-01A-12D-A19J-08	126741475	169732647	73466726	5	574											
SLC34A2	10568	broad.mit.edu	37	chr4	25678361	25678361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcaaagaccgaatgcaCggccttgtaggggacgcccc	13	13	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr4:25678361C>T	uc003grr.3	+	12	2144	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	SLC34A2_uc003grs.3_Missense_Mutation_p.T687M|SLC34A2_uc010iev.3_Missense_Mutation_p.T687M	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	688					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCGAATGCACGGCCTTGTAG	0.567			T	ROS1	NSCLC								20	33					0	0	1	0	0	T	25678361	C	T	25678361	3	4	27	1	0	0	0	0	1	0	0	0	14568	536	19	1	2109	1	SLC34A2	4	25678361	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		25678361	165475915	6	575											
MRS2	57380	broad.mit.edu	37	chr6	24409748	24409748	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagccagagatttgagatttCagcatgtaatgagtatcaca	9	6	2	3			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:24409748C>T	uc011djl.2	+	3	483	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MRS2_uc003nea.3_Nonsense_Mutation_p.Q121*|MRS2_uc003neb.3_Nonsense_Mutation_p.Q121*|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Intron	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	121					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTGAGATTTCAGCATGTAAT	0.303													5	68					0	0	1	0	0	T	24409748	C	T	24409748	4	4	27	1	0	0	0	0	0	1	0	0	9851	827	29	2	375	2	MRS2	6	24409748	Nonsense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		24409748	146705319	7	576											
MDN1	23195	broad.mit.edu	37	chr6	90400467	90400467	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagggctgtcctagagttCctgctcctgtatctatacag	9	12	2	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:90400467C>T	uc003pnn.1	-	63	10790	c.10674G>A	c.(10672-10674)agG>agA	p.R3558R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3558					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTAGAGTTCCTGCTCCTGT	0.517													6	42					0	0	1	0	0	T	90400467	C	T	90400467	2	4	27	1	0	0	0	0	0	0	0	1	9415	854	30	2		2	MDN1	6	90400467	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	65990719	90400467	80714600	8	577											
PPP1R14C	81706	broad.mit.edu	37	chr6	150464574	150464574	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacgatcgtaaggagcttcgGaagcggctggtgctggagga	17	7	0	0			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:150464574G>T	uc003qnt.3	+	0	387	c.246G>T	c.(244-246)cgG>cgT	p.R82R		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	82					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGGAGCTTCGGAAGCGGCTGG	0.647													7	16					0	0	1	0	0	T	150464574	G	T	150464574	2	4	27	1	0	0	0	0	0	0	0	1	12361	1161	41	4		4	PPP1R14C	6	150464574	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	60064107	150464574	20650493	9	578											
ZDHHC14	79683	broad.mit.edu	37	chr6	157803239	157803239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatggcccggcagacgggCgtcttctacctgacgctcgt	13	13	2	3			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:157803239C>T	uc003qqt.3	+	0	683	c.186C>T	c.(184-186)ggC>ggT	p.G62G	ZDHHC14_uc003qqs.3_Silent_p.G62G	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	62						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GGCAGACGGGCGTCTTCTACC	0.592													18	36					0	0	1	0	0	T	157803239	C	T	157803239	2	4	27	1	0	0	0	0	0	0	0	1	17601	755	27	1		1	ZDHHC14	6	157803239	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	7338665	157803239	13311828	10	579											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	53					0	0	1	0	0	T	140453136	A	T	140453136	3	4	27	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08		140453136	18685527	11	580											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205277	38205277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcacagtttgtggtaccGaaggaggaggtggtggctgt	17	5	1	0			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:38205277G>A	uc003xli.3	-	1	931	c.413C>T	c.(412-414)tCg>tTg	p.S138L	WHSC1L1_uc011lbm.2_Missense_Mutation_p.S138L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.S138L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.S138L	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	138					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGTGGTACCGAAGGAGGAGG	0.418			T	NUP98	AML								23	79					0	0	1	0	0	A	38205277	G	A	38205277	3	1	27	1	0	0	0	0	1	0	0	0	17360	1059	37	1	4079	1	WHSC1L1	8	38205277	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		38205277	108158745	12	581											
SNX31	169166	broad.mit.edu	37	chr8	101661544	101661544	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggctgtagcgcaccctgcaGaagaggaacccgtccaggtg	14	12	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:101661544G>A	uc003yjr.3	-	1	250	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	33	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCCTGCAGAAGAGGAACC	0.612													4	34					0	0	1	0	0	A	101661544	G	A	101661544	2	1	27	1	0	0	0	0	0	0	0	1	14901	933	33	2		2	SNX31	8	101661544	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	63456267	101661544	44702478	13	582											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798740	119798740	+	Frame_Shift_Del	DEL	C	C	-													attggttttgaaaataaattCatgctgctgtcccatgtttc							TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr10:119798740delC	uc009xyz.2	-	2	1448	c.1008delG	c.(1006-1008)atgfs	p.M336fs	RAB11FIP2_uc001ldj.2_Frame_Shift_Del_p.M336fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	336					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	p.S335N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AAAATAAATTCATGCTGCTGT	0.343													32	70	---	---	---	---						-	119798740	C	-	119798740	7	5	27	1	0	1	0	1	0	0	0	0	12894	826	29	0	542	0	RAB11FIP2	10	119798740	Frame_Shift_Del	DEL	C	TCGA-BJ-A2NA-01A-12D-A19J-08		119798740	15736007	14	583											
IGSF22	283284	broad.mit.edu	37	chr11	18741432	18741432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttcttcttgggagcaGggggtgccctaggagaagga	16	8	3	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:18741432G>A	uc009yht.2	-	6	717	c.527C>T	c.(526-528)cCt>cTt	p.P176L	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	176	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTGGGAGCAGGGGGTGCCCT	0.502													7	117					0	0	1	0	0	A	18741432	G	A	18741432	3	1	27	1	0	0	0	0	1	0	0	0	7600	1000	35	2	3521	2	IGSF22	11	18741432	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		18741432	116265084	15	584											
OR10Q1	219960	broad.mit.edu	37	chr11	57995529	57995529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatttggctgtcctcatcCtctgaggtgctggaccgagg	14	11	2	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:57995529C>T	uc010rkd.2	-	0	862	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTCCTCATCCTCTGAGGTGC	0.572													30	38					0	0	1	0	0	T	57995529	C	T	57995529	2	4	27	1	0	0	0	0	0	0	0	1	10916	680	24	2		2	OR10Q1	11	57995529	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	39254097	57995529	77010987	16	585											
ST8SIA1	6489	broad.mit.edu	37	chr12	22487068	22487068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccacgacacagagggcActggctcccatgggcagccg	14	14	0	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:22487068A>G	uc001rfo.4	-	0	581	c.99T>C	c.(97-99)agT>agC	p.S33S	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	33					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGAGGGCACTGGCTCCCA	0.667													29	72					0	0	1	0	0	G	22487068	A	G	22487068	2	3	27	1	0	0	0	0	0	0	0	1	15230	156	6	3		3	ST8SIA1	12	22487068	Silent	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08		22487068	111364827	17	586											
MYF5	4617	broad.mit.edu	37	chr12	81112653	81112653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttagtatatgccacagaTaaaaactccttatccagctt	4	11	0	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:81112653T>C	uc001szg.2	+	2	726	c.591T>C	c.(589-591)gaT>gaC	p.D197D		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	197					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGCCACAGATAAAAACTCCT	0.423													34	60					0	0	1	0	0	C	81112653	T	C	81112653	2	2	27	1	0	0	0	0	0	0	0	1	10027	1403	49	3		3	MYF5	12	81112653	Silent	SNP	T	TCGA-BJ-A2NA-01A-12D-A19J-08	58625585	81112653	52739242	18	587											
FAM48A	55578	broad.mit.edu	37	chr13	37622068	37622068	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctgtcgggcactttcaatGacatactaaaaaacaaaagt	6	9	2	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:37622068G>A	uc001uwk.3	-	3	293	c.45C>T	c.(43-45)gtC>gtT	p.V15V	FAM48A_uc010abt.3_Silent_p.V15V|FAM48A_uc001uwg.3_Silent_p.V15V|FAM48A_uc001uwh.3_Silent_p.V15V|FAM48A_uc001uwi.3_Silent_p.V15V|FAM48A_uc001uwj.3_Silent_p.V15V|FAM48A_uc010tes.1_Silent_p.V3V|FAM48A_uc001uwl.1_Silent_p.V15V	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	15					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CACTTTCAATGACATACTAAA	0.318													6	52					0	0	1	0	0	A	37622068	G	A	37622068	2	1	27	1	0	0	0	0	0	0	0	1	5572	1277	45	2		2	FAM48A	13	37622068	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		37622068	77547810	19	588											
PIBF1	10464	broad.mit.edu	37	chr13	73539420	73539420	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttctttagcttgacagAgccaattcgctattaaacca	7	9	1	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:73539420A>C	uc001vjc.3	+	14	2147	c.1842A>C	c.(1840-1842)agA>agC	p.R614S	PIBF1_uc001vjb.3_Missense_Mutation_p.R614S|PIBF1_uc010aep.3_Missense_Mutation_p.R73S	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	614				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGCTTGACAGAGCCAATTCGC	0.343													10	29					0	0	1	0	0	C	73539420	A	C	73539420	3	2	27	1	0	0	0	0	1	0	0	0	11879	301	11	5	1896	5	PIBF1	13	73539420	Missense_Mutation	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08	35917352	73539420	41630458	20	589											
SLC39A2	29986	broad.mit.edu	37	chr14	21468323	21468323	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggtgatgctgattcagctCatgtaagtacctcccaccat	8	12	2	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:21468323C>T	uc001vyr.3	+	2	487	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	SLC39A2_uc001vys.3_5'UTR	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	99						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGATTCAGCTCATGTAAGTAC	0.463													7	41					0	0	1	0	0	T	21468323	C	T	21468323	3	4	27	1	0	0	0	0	1	0	0	0	14618	826	29	2	305	2	SLC39A2	14	21468323	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		21468323	85881217	21	590											
KHNYN	23351	broad.mit.edu	37	chr14	24900883	24900883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgggtagaagagctggCagagcggctgagctgggact	19	8	0	4			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:24900883C>T	uc010tpc.2	+	2	555	c.539C>T	c.(538-540)gCa>gTa	p.A180V	KHNYN_uc001wph.4_Missense_Mutation_p.A139V|KHNYN_uc010alw.3_Missense_Mutation_p.A139V|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	139										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGCTGGCAGAGCGGCTG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	55					0	0	1	0	0	T	24900883	C	T	24900883	3	4	27	1	0	0	0	0	1	0	0	0	8150	710	25	2	422	2	KHNYN	14	24900883	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	3432560	24900883	82448657	22	591											
NKX2-1	7080	broad.mit.edu	37	chr14	36988488	36988488	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccgccctccatgcccactttCttgtagctttcctccagggg	8	17	1	0			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:36988488C>G	uc001wtu.3	-	1	261	c.165G>C	c.(163-165)aaG>aaC	p.K55N	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K25N|NKX2-1_uc001wtv.3_Missense_Mutation_p.K25N|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	25					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCCACTTTCTTGTAGCTTT	0.652			A		NSCLC								3	20					0	0	1	0	0	G	36988488	C	G	36988488	3	3	27	1	0	0	0	0	1	0	0	0	10449	912	32	4	1048	4	NKX2-1	14	36988488	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	12087605	36988488	70361052	23	592											
TTBK2	146057	broad.mit.edu	37	chr15	43067809	43067809	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctggaagatattcttcatCatagtgccagatgtggtcag	10	7	5	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:43067809C>T	uc001zqo.2	-	12	1961	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	TTBK2_uc010bcy.2_Missense_Mutation_p.D439N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	508					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TATTCTTCATCATAGTGCCAG	0.502													12	80					0	0	1	0	0	T	43067809	C	T	43067809	3	4	27	1	0	0	0	0	1	0	0	0	16674	826	29	2	2224	2	TTBK2	15	43067809	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		43067809	59463583	24	593											
ABHD2	11057	broad.mit.edu	37	chr15	89659640	89659640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggctgctgtgctgtacGtgatcgtccggtgtttgaac	14	9	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:89659640G>A	uc002bnj.2	+	6	1000	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ABHD2_uc010ups.1_Non-coding_Transcript|ABHD2_uc002bnk.2_Missense_Mutation_p.V28M	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	28						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGTGCTGTACGTGATCGTCCG	0.577													34	59					0	0	1	0	0	A	89659640	G	A	89659640	3	1	27	1	0	0	0	0	1	0	0	0	82	1145	40	1	84	1	ABHD2	15	89659640	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	46591831	89659640	12871752	25	594											
OR2C1	4993	broad.mit.edu	37	chr16	3405956	3405956	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagtgatggacggggtgaatGatagctccttgcagggcttt	15	7	0	3			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:3405956G>C	uc002cuw.1	+	0	68	c.16G>C	c.(16-18)Gat>Cat	p.D6H		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CGGGGTGAATGATAGCTCCTT	0.463													9	42					0	0	1	0	0	C	3405956	G	C	3405956	3	2	27	1	0	0	0	0	1	0	0	0	10992	1290	45	4	18	4	OR2C1	16	3405956	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		3405956	86948797	26	595											
FA2H	79152	broad.mit.edu	37	chr16	74750252	74750252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcccatcctcacctgacttCtgatgtgcaaagtggtgctt	10	12	2	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:74750252C>G	uc002fde.2	-	5	1108	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H	FA2H_uc002fdd.2_Missense_Mutation_p.Q117H|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	344					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CACCTGACTTCTGATGTGCAA	0.542													7	42					0	0	1	0	0	G	74750252	C	G	74750252	3	3	27	1	0	0	0	0	1	0	0	0	5352	912	32	4	94	4	FA2H	16	74750252	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	71344296	74750252	15604501	27	596											
PHF23	79142	broad.mit.edu	37	chr17	7139630	7139630	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctcttttccccatccccagGagttggccgaggcctccgaa	9	16	1	0			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139630G>C	uc002gfa.3	-	3	843	c.616C>G	c.(616-618)Cct>Gct	p.P206A	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.P139A|PHF23_uc010cma.3_Missense_Mutation_p.P76A	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	206							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCATCCCCAGGAGTTGGCCGA	0.582													17	76					0	0	1	0	0	C	7139630	G	C	7139630	3	2	27	1	0	0	0	0	1	0	0	0	11835	1174	41	4	603	4	PHF23	17	7139630	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		7139630	74055580	28	597											
PHF23	79142	broad.mit.edu	37	chr17	7139847	7139847	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatcaaagagagagtccttGagcttcatcttctcaagcaa	8	9	4	4			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139847G>C	uc002gfa.3	-	3	626	c.399C>G	c.(397-399)ctC>ctG	p.L133L	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L66L|PHF23_uc010cma.3_Silent_p.L3L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	133							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GAGAGTCCTTGAGCTTCATCT	0.602													11	65					0	0	1	0	0	C	7139847	G	C	7139847	2	2	27	1	0	0	0	0	0	0	0	1	11835	1277	45	4		4	PHF23	17	7139847	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	217	7139847	74055363	29	598											
ALOX12B	242	broad.mit.edu	37	chr17	7977036	7977036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgactatagtgacatatCggatcagctcaggcacggtt	11	8	2	3			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7977036C>T	uc002gjy.1	-	12	1955	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	565	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R565R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGTGACATATCGGATCAGCTC	0.622										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	20					0	0	1	0	0	T	7977036	C	T	7977036	3	4	27	1	0	0	0	0	1	0	0	0	537	884	31	1	423	1	ALOX12B	17	7977036	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	837189	7977036	73218174	30	599											
CREB3L3	84699	broad.mit.edu	37	chr19	4154971	4154971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtttgaccggcaggacGgcatcctgagacacgtggag	14	11	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:4154971G>A	uc002lzl.3	+	1	219	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CREB3L3_uc002lzm.3_Missense_Mutation_p.G26S|CREB3L3_uc010xib.2_Missense_Mutation_p.G26S|CREB3L3_uc010xic.2_Missense_Mutation_p.G26S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	35					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCAGGACGGCATCCTGAG	0.637													26	63					0	0	1	0	0	A	4154971	G	A	4154971	3	1	27	1	0	0	0	0	1	0	0	0	3858	1116	39	1	109	1	CREB3L3	19	4154971	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		4154971	54974012	31	600											
MYO9B	4650	broad.mit.edu	37	chr19	17313022	17313022	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggccactgagcgtggccaGaaggacaccaacctggtcct	12	14	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17313022G>A	uc010eak.3	+	27	4898	c.4746G>A	c.(4744-4746)caG>caA	p.Q1582Q	MYO9B_uc002nfi.3_Silent_p.Q1582Q|MYO9B_uc002nfj.1_Silent_p.Q1582Q|MYO9B_uc002nfl.1_Silent_p.Q131Q	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1582	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCGTGGCCAGAAGGACACCA	0.562													5	12					0	0	1	0	0	A	17313022	G	A	17313022	2	1	27	1	0	0	0	0	0	0	0	1	10085	933	33	2		2	MYO9B	19	17313022	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	13158051	17313022	41815961	32	601											
UNC13A	23025	broad.mit.edu	37	chr19	17756912	17756912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcctgcaagccctgggCgcagaccactggaagacaca	11	14	0	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17756912C>T	uc021uqk.1	-	17	2092	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	685	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.A685T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAGCCCTGGGCGCAGACCACT	0.557													5	23					0	0	1	0	0	T	17756912	C	T	17756912	3	4	27	1	0	0	0	0	1	0	0	0	16981	768	27	1	3162	1	UNC13A	19	17756912	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	443890	17756912	41372071	33	602											
SIRT2	22933	broad.mit.edu	37	chr19	39370317	39370317	+	Frame_Shift_Del	DEL	A	A	-													ccatgcctcctccgaggcccAtaatcatccccaggaaaggg							TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:39370317delA	uc002ojt.2	-	13	1243	c.902delT	c.(901-903)atgfs	p.M301fs	RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Frame_Shift_Del_p.M264fs|SIRT2_uc002ojs.2_Frame_Shift_Del_p.M281fs|SIRT2_uc002oju.2_Frame_Shift_Del_p.M264fs|SIRT2_uc010egh.2_Intron|SIRT2_uc002ojv.2_Frame_Shift_Del_p.M299fs	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	301	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCGAGGCCCATAATCATCCC	0.652													2	4	---	---	---	---						-	39370317	A	-	39370317	7	5	27	1	0	1	0	1	0	0	0	0	14338	217	8	0	279	0	SIRT2	19	39370317	Frame_Shift_Del	DEL	A	TCGA-BJ-A2NA-01A-12D-A19J-08	21613405	39370317	19758666	34	603											
PPFIA3	8541	broad.mit.edu	37	chr19	49651468	49651468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatgttagatcaccttaaCaagaaggagctccggggcca	11	10	1	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:49651468C>T	uc002pmr.3	+	23	3296	c.2964C>T	c.(2962-2964)aaC>aaT	p.N988N	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.N847N|PPFIA3_uc002pmt.3_Silent_p.N127N|PPFIA3_uc002pmu.1_Silent_p.N37N	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	988	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATCACCTTAACAAGAAGGAGC	0.612													8	30					0	0	1	0	0	T	49651468	C	T	49651468	2	4	27	1	0	0	0	0	0	0	0	1	12311	477	17	2		2	PPFIA3	19	49651468	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	10281151	49651468	9477515	35	604											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701879	56701879	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgcaggcagaaggtgtgtCagcatccacattttccacag	10	11	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:56701879C>T	uc010ygh.2	-	3	805	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	269					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGTGTGTCAGCATCCACA	0.502													24	111					0	0	1	0	0	T	56701879	C	T	56701879	3	4	27	1	0	0	0	0	1	0	0	0	18236	826	29	2	686	2	ZSCAN5B	19	56701879	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	7050411	56701879	2427104	36	605											
RASD2	23551	broad.mit.edu	37	chr22	35947855	35947855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagcatggccaagctgCcacacgagatgagccccgcc	10	16	2	2			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:35947855C>T	uc003anx.3	+	2	782	c.577C>T	c.(577-579)Cca>Tca	p.P193S	RASD2_uc003any.3_Missense_Mutation_p.P193S	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	193	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGCCAAGCTGCCACACGAGAT	0.612													3	34					0	0	1	0	0	T	35947855	C	T	35947855	3	4	27	1	0	0	0	0	1	0	0	0	13067	739	26	2	583	2	RASD2	22	35947855	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		35947855	15356711	37	606											
TYMP	1890	broad.mit.edu	37	chr22	50967746	50967746	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagatccatgccccgaagtCggatggccatcagcatggcc	11	15	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:50967746C>A	uc003bme.4	-	2	428	c.236G>T	c.(235-237)cGa>cTa	p.R79L	SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R79L|TYMP_uc003bmc.4_Missense_Mutation_p.R79L|TYMP_uc010hbd.3_Missense_Mutation_p.R79L|TYMP_uc003bmd.4_Missense_Mutation_p.R79L|TYMP_uc011arz.1_Missense_Mutation_p.R79L	NM_001953	NP_001944	P19971	TYPH_HUMAN	Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	79					DNA replication|angiogenesis|cell differentiation|chemotaxis|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GCCCCGAAGTCGGATGGCCAT	0.692													13	26					0	0	1	0	0	A	50967746	C	A	50967746	3	1	27	1	0	0	0	0	1	0	0	0	16808	884	31	4	1244	4	TYMP	22	50967746	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	15019891	50967746	336820	38	607											
TAF7L	54457	broad.mit.edu	37	chrX	100547854	100547854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccgtttgagtgtcctcGtcggcaggaatctgggtgcc	14	11	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:100547854G>A	uc004ehb.3	-	0	206	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	60					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.A59A(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562													65	27					0	0	1	0	0	A	100547854	G	A	100547854	2	1	27	1	0	0	0	0	0	0	0	1	15530	1136	40	1		1	TAF7L	23	100547854	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		100547854	54722706	39	608											
PNCK	139728	broad.mit.edu	37	chrX	152937598	152937598	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagttccatggccaggtaGaggtgggaagggctctcgtg	16	9	1	1			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:152937598G>A	uc011myu.2	-	3	693	c.507C>T	c.(505-507)ctC>ctT	p.L169L	PNCK_uc011myt.2_Silent_p.L103L|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.L169L|PNCK_uc011myv.2_Silent_p.L113L|PNCK_uc011myw.2_Silent_p.L113L	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	86	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.L86L(1)|p.L103L(1)|p.L115L(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGGTAGAGGTGGGAAG	0.637													6	22					0	0	1	0	0	A	152937598	G	A	152937598	2	1	27	1	0	0	0	0	0	0	0	1	12145	929	33	2		2	PNCK	23	152937598	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	52389744	152937598	2332962	40	609											
CACHD1	57685	broad.mit.edu	37	chr1	65113681	65113681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggatgattgatgaagccGtcttcagcctgcccttctct	9	13	3	3			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:65113681G>A	uc001dbo.1	+	8	1306	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	CACHD1_uc001dbp.1_Missense_Mutation_p.V156I|CACHD1_uc001dbq.1_Missense_Mutation_p.V156I	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	452	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGATGAAGCCGTCTTCAGCCT	0.488													3	26					0	0	1	0	0	A	65113681	G	A	65113681	3	1	28	1	0	0	0	0	1	0	0	0	2537	1145	40	1	1235	1	CACHD1	1	65113681	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		65113681	184136940	1	610											
ADCY10	55811	broad.mit.edu	37	chr1	167829094	167829094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgtttttgctttttcAaggtgctcatcctggaaatc	7	9	2	0			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:167829094A>G	uc001ger.3	-	15	2145	c.1847T>C	c.(1846-1848)tTg>tCg	p.L616S	ADCY10_uc010plj.2_Missense_Mutation_p.L463S|ADCY10_uc009wvk.3_Missense_Mutation_p.L524S|ADCY10_uc009wvl.3_Missense_Mutation_p.L615S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	616					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGCTTTTTCAAGGTGCTCAT	0.393													4	174					0	0	1	0	0	G	167829094	A	G	167829094	3	3	28	1	0	0	0	0	1	0	0	0	293	131	5	3	3057	3	ADCY10	1	167829094	Missense_Mutation	SNP	A	TCGA-BJ-A2P4-01A-11D-A18F-08	102715413	167829094	81421527	2	611											
POLR1B	84172	broad.mit.edu	37	chr2	113332659	113332661	+	In_Frame_Del	DEL	CCA	CCA	-													tgttcaatccccatggttttCcatcccgcatgaccattggg							TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:113332659_113332661delCCA	uc002thw.2	+	14	3341_3343	c.2761_2763delCCA	c.(2761-2763)ccadel	p.P921del	POLR1B_uc010fkn.2_In_Frame_Del_p.P865del|POLR1B_uc002thx.2_In_Frame_Del_p.P782del|POLR1B_uc010fko.2_In_Frame_Del_p.P738del|POLR1B_uc010fkp.2_In_Frame_Del_p.P360del|POLR1B_uc002thy.2_In_Frame_Del_p.P782del|POLR1B_uc010yxo.1_In_Frame_Del_p.P698del	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	921					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCATGGTTTTCCATCCCGCATGA	0.507													40	88	---	---	---	---						-	113332661	CCA	-	113332659	7	5	28	1	0	1	0	1	0	0	0	0	12210	855	30	0	2819	0	POLR1B	2	113332659	In_Frame_Del	DEL	CCA	TCGA-BJ-A2P4-01A-11D-A18F-08		113332659	129866714	3	612											
LCT	3938	broad.mit.edu	37	chr2	136567521	136567521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagccatcaatgagggaaCgagcaatgtaggaacgaaca	12	8	1	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:136567521C>T	uc002tuu.1	-	7	2407	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	799	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AATGAGGGAACGAGCAATGTA	0.438													23	47					0	0	1	0	0	T	136567521	C	T	136567521	3	4	28	1	0	0	0	0	1	0	0	0	8693	536	19	1	3427	1	LCT	2	136567521	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	23234862	136567521	106631852	4	613											
AP3B1	8546	broad.mit.edu	37	chr5	77452179	77452179	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttataacaaccacactttcaGcaacaactatttctgaaaaa	2	10	2	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:77452179G>C	uc003kfj.3	-	13	1501	c.1376C>G	c.(1375-1377)gCt>gGt	p.A459G		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	459					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACACTTTCAGCAACAACTAT	0.294									Hermansky-Pudlak syndrome				27	43					0	0	1	0	0	C	77452179	G	C	77452179	3	2	28	1	0	0	0	0	1	0	0	0	744	971	34	4	1964	4	AP3B1	5	77452179	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		77452179	103463081	5	614											
PCDHB6	56130	broad.mit.edu	37	chr5	140531461	140531461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctccccggcgttgagcagCgaggcgctggtgcgcttgct	17	13	0	1	rs61730259		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:140531461C>A	uc003lir.3	+	0	1623	c.1623C>A	c.(1621-1623)agC>agA	p.S541R		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	541	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGAGCAGCGAGGCGCTGG	0.682													3	102					0	0	1	0	0	A	140531461	C	A	140531461	3	1	28	1	0	0	0	0	1	0	0	0	11546	767	27	4	1625	4	PCDHB6	5	140531461	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	63079282	140531461	40383799	6	615											
MUC17	140453	broad.mit.edu	37	chr7	100679466	100679466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggtggtcagttctgaggCtaacaccctttcaacaaccc	9	13	3	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr7:100679466C>A	uc003uxp.1	+	2	4822	c.4769C>A	c.(4768-4770)gCt>gAt	p.A1590D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1590	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCTGAGGCTAACACCCTT	0.488													83	173					0	0	1	0	0	A	100679466	C	A	100679466	3	1	28	1	0	0	0	0	1	0	0	0	9974	797	28	4	4779	4	MUC17	7	100679466	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		100679466	58459197	7	616											
SLA	6503	broad.mit.edu	37	chr8	134062170	134062170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaactctggccacacaTattccagggatgtaactctc	8	11	2	0			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr8:134062170T>C	uc011ljd.2	-	2	423	c.345A>G	c.(343-345)atA>atG	p.I115M	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Missense_Mutation_p.I75M|SLA_uc011lje.2_Missense_Mutation_p.I92M|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Missense_Mutation_p.I92M|SLA_uc010mdy.1_Missense_Mutation_p.I75M|SLA_uc010mdz.1_Missense_Mutation_p.I75M|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	75	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGGCCACACATATTCCAGGGA	0.448													22	33					0	0	1	0	0	C	134062170	T	C	134062170	3	2	28	1	0	0	0	0	1	0	0	0	14363	1396	49	3	625	3	SLA	8	134062170	Missense_Mutation	SNP	T	TCGA-BJ-A2P4-01A-11D-A18F-08		134062170	12301852	8	617											
TMEM38B	55151	broad.mit.edu	37	chr9	108510354	108510354	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgtgttttattttcagCcctgccaaggtaaccctgct	7	10	1	0			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr9:108510354C>T	uc004bcu.1	+	5	660	c.543_splice	c.e5-1	p.Y181_splice	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	181						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTATTTTCAGCCCTGCCAAGG	0.363													4	58					0	0	1	0	0	T	108510354	C	T	108510354	5	4	28	1	0	0	0	0	0	0	1	0	16157	753	26	2	561	2	TMEM38B	9	108510354	Splice_Site	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		108510354	32703077	9	618											
GPRIN2	9721	broad.mit.edu	37	chr10	46999058	46999058	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggccagcaccagacccCaggccccggaggaagagggg	17	14	0	2			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr10:46999058C>T	uc001jec.3	+	2	313	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GPRIN2_uc021ppt.1_Nonsense_Mutation_p.Q60*	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	60										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACCAGACCCCAGGCCCCGGA	0.701													12	54					0	0	1	0	0	T	46999058	C	T	46999058	4	4	28	1	0	0	0	0	0	1	0	0	6730	595	21	2	180	2	GPRIN2	10	46999058	Nonsense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		46999058	88535689	10	619											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			33	53					0	0	1	0	0	C	533874	T	C	533874	3	2	28	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BJ-A2P4-01A-11D-A18F-08		533874	134472642	11	620											
FLI1	2313	broad.mit.edu	37	chr11	128642762	128642762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatggagatcgacacatcCtttttccagaacatggatgg	10	8	0	3			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:128642762C>T	uc010sbu.2	+	3	814	c.471C>T	c.(469-471)tcC>tcT	p.S157S	FLI1_uc010sbt.2_Intron|FLI1_uc010sbv.2_Silent_p.S124S|FLI1_uc009zci.3_Silent_p.S91S	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	157	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T156I(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCGACACATCCTTTTTCCAGA	0.522			T	EWSR1	Ewing sarcoma								4	172					0	0	1	0	0	T	128642762	C	T	128642762	2	4	28	1	0	0	0	0	0	0	0	1	5924	668	24	2		2	FLI1	11	128642762	Silent	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	128108888	128642762	6363754	12	621											
CAPZA3	93661	broad.mit.edu	37	chr12	18891209	18891209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcaaccaaacatgacaCttagcgtgctgagcaggaag	11	9	0	2			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr12:18891209C>A	uc001rdy.3	+	0	165	c.7C>A	c.(7-9)Ctt>Att	p.L3I	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L3V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438													5	89					0	0	1	0	0	A	18891209	C	A	18891209	3	1	28	1	0	0	0	0	1	0	0	0	2642	565	20	4	9	4	CAPZA3	12	18891209	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		18891209	114960686	13	622											
SF3B3	23450	broad.mit.edu	37	chr16	70569224	70569224	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagttccaggagggtcAgatggtccaagtggagtact	13	9	2	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr16:70569224A>T	uc002ezf.3	+	5	937	c.726A>T	c.(724-726)tcA>tcT	p.S242S	SNORD111_uc002ezg.1_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	242					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGGAGGGTCAGATGGTCCAA	0.448													92	140					0	0	1	0	0	T	70569224	A	T	70569224	2	4	28	1	0	0	0	0	0	0	0	1	14152	175	7	5		5	SF3B3	16	70569224	Silent	SNP	A	TCGA-BJ-A2P4-01A-11D-A18F-08		70569224	19785529	14	623											
GIP	2695	broad.mit.edu	37	chr17	47039134	47039134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctattagcttgactgGccagctccagcgcccgagcc	9	17	0	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr17:47039134G>A	uc002iol.1	-	3	403	c.305C>T	c.(304-306)gCc>gTc	p.A102V		NM_004123	NP_004114	P09681	GIP_HUMAN	Homo sapiens gastric inhibitory polypeptide (GIP), mRNA.	102					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						AGCTTGACTGGCCAGCTCCAG	0.617													3	27					0	0	1	0	0	A	47039134	G	A	47039134	3	1	28	1	0	0	0	0	1	0	0	0	6391	1203	42	2	168	2	GIP	17	47039134	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		47039134	34156076	15	624											
ANKLE1	126549	broad.mit.edu	37	chr19	17394682	17394682	+	Frame_Shift_Del	DEL	T	T	-													cttggagttgctgaagggacTccgagcacttggtgagaatc							TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:17394682delT	uc010xpn.1	+	4	1385	c.1271delT	c.(1270-1272)ctcfs	p.L424fs	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Frame_Shift_Del_p.L370fs|ANKLE1_uc010eao.1_Frame_Shift_Del_p.L392fs|ANKLE1_uc002nfy.2_Frame_Shift_Del_p.L359fs|ANKLE1_uc002nfz.2_Frame_Shift_Del_p.L76fs			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	370						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTGAAGGGACTCCGAGCACTT	0.577													21	39	---	---	---	---						-	17394682	T	-	17394682	7	5	28	1	0	1	0	1	0	0	0	0	632	1551	54	0	1127	0	ANKLE1	19	17394682	Frame_Shift_Del	DEL	T	TCGA-BJ-A2P4-01A-11D-A18F-08		17394682	41734301	16	625											
PRODH2	58510	broad.mit.edu	37	chr19	36303117	36303117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggggctccaggaggccCcgtgacaggtccacacaccg	15	15	0	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:36303117C>T	uc002obx.1	-	3	675	c.657G>A	c.(655-657)cgG>cgA	p.R219R		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	219					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.R219W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGAGGCCCCGTGACAGGT	0.647													22	45					0	0	1	0	0	T	36303117	C	T	36303117	2	4	28	1	0	0	0	0	0	0	0	1	12549	610	22	2		2	PRODH2	19	36303117	Silent	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	18908435	36303117	22825866	17	626											
DDX27	55661	broad.mit.edu	37	chr20	47845343	47845343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtgctggtgctagtgccCacccgagagctgggcatcca	14	14	0	1			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:47845343C>T	uc002xuh.3	+	7	952	c.891C>T	c.(889-891)ccC>ccT	p.P297P		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	297	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCTAGTGCCCACCCGAGAGC	0.602													46	42					0	0	1	0	0	T	47845343	C	T	47845343	2	4	28	1	0	0	0	0	0	0	0	1	4354	581	21	2		2	DDX27	20	47845343	Silent	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		47845343	15180177	18	627											
OGFR	11054	broad.mit.edu	37	chr20	61444704	61444704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagccgagagcccatcGgagaccccaggccccagccc	12	19	0	2			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:61444704G>A	uc002ydj.3	+	6	1772	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S	OGFR_uc002ydk.3_Silent_p.S562S|OGFR_uc002ydl.3_Silent_p.S527S	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	Homo sapiens opioid growth factor receptor (OGFR), mRNA.	579	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					AGAGCCCATCGGAGACCCCAG	0.741													3	9					0	0	1	0	0	A	61444704	G	A	61444704	2	1	28	1	0	0	0	0	0	0	0	1	10843	1103	39	1		1	OGFR	20	61444704	Silent	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08	13599361	61444704	1580816	19	628											
ANKRD54	129138	broad.mit.edu	37	chr22	38236241	38236241	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtccctcagtctcttcagaGctgtaaagagagtaacggat	10	9	3	2			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr22:38236241G>C	uc003auc.3	-	2	437	c.329_splice	c.e2-1	p.A110_splice	ANKRD54_uc003aud.3_Splice_Site	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	110										lung(1)	1	Melanoma(58;0.045)					TCTCTTCAGAGCTGTAAAGAG	0.547													3	100					0	0	1	0	0	C	38236241	G	C	38236241	5	2	28	1	0	0	0	0	0	0	1	0	680	985	34	4	601	4	ANKRD54	22	38236241	Splice_Site	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		38236241	13068325	20	629											
PRDM2	7799	broad.mit.edu	37	chr1	14075951	14075951	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaagagcgagccagcgcccgGagcaagcggagctcccccaa	14	15	0	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:14075951G>C	uc001avi.3	+	5	1336	c.480G>C	c.(478-480)cgG>cgC	p.R160R	PRDM2_uc001avg.3_Silent_p.R160R|PRDM2_uc001avh.3_Silent_p.R160R|PRDM2_uc021ogk.1_5'UTR|PRDM2_uc001avk.3_5'UTR|PRDM2_uc009voe.3_Non-coding_Transcript|PRDM2_uc009vof.3_Non-coding_Transcript	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	160						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCAGCGCCCGGAGCAAGCGGA	0.726													13	6					0	0	1	0	0	C	14075951	G	C	14075951	2	2	29	1	0	0	0	0	0	0	0	1	12458	1161	41	4		4	PRDM2	1	14075951	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		14075951	235174670	1	630											
NBPF10	100132406	broad.mit.edu	37	chr1	145293460	145293460	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcagagatgaacattctaGaaatcaacgagacattgcgc	10	8	2	4			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:145293460G>C	uc021oul.1	+	0	90	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_Missense_Mutation_p.E19Q|NBPF10_uc001emq.1_Missense_Mutation_p.E19Q	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	19										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAACATTCTAGAAATCAACGA	0.522													96	650					0	0	1	0	0	C	145293460	G	C	145293460	3	2	29	1	0	0	0	0	1	0	0	0	10193	943	33	4	57	4	NBPF10	1	145293460	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	131217509	145293460	103957161	2	631											
ABL2	27	broad.mit.edu	37	chr1	179090742	179090742	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacccaccttcaatgttttCacagcaactgtaaggctgta	6	12	2	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:179090742C>T	uc001gmj.4	-	4	1235	c.948G>A	c.(946-948)gtG>gtA	p.V316V	ABL2_uc010pnf.2_Silent_p.V316V|ABL2_uc010png.2_Silent_p.V295V|ABL2_uc010pnh.2_Silent_p.V295V|ABL2_uc009wxe.3_Silent_p.V295V|ABL2_uc001gmg.4_Silent_p.V301V|ABL2_uc001gmi.4_Silent_p.V301V|ABL2_uc010pne.2_Silent_p.V280V|ABL2_uc001gmk.3_Silent_p.V280V|ABL2_uc009wxf.2_Silent_p.V301V	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	316	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCAATGTTTTCACAGCAACTG	0.428			T	ETV6	AML								9	232					0	0	1	0	0	T	179090742	C	T	179090742	2	4	29	1	0	0	0	0	0	0	0	1	93	813	29	2		2	ABL2	1	179090742	Silent	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	33797282	179090742	70159879	3	632											
GNPAT	8443	broad.mit.edu	37	chr1	231401089	231401089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctacgaatgtcgggtgccTttttcatgcggcgtaccttt	11	10	1	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:231401089T>C	uc001hup.4	+	4	825	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GNPAT_uc009xfo.1_Missense_Mutation_p.F98L|GNPAT_uc009xfp.3_Missense_Mutation_p.F146L	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	207					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCGGGTGCCTTTTTCATGCG	0.383													3	92					0	0	1	0	0	C	231401089	T	C	231401089	3	2	29	1	0	0	0	0	1	0	0	0	6541	1609	56	3	637	3	GNPAT	1	231401089	Missense_Mutation	SNP	T	TCGA-BJ-A3EZ-01A-11D-A202-08	52310347	231401089	17849532	4	633											
PIK3CA	5290	broad.mit.edu	37	chr3	178952074	178952074	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagtatttcatgaaacaaatGaatgatgcacatcatggtgg	10	5	2	3	rs121913283		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr3:178952074G>C	uc003fjk.3	+	20	3286	c.3129G>C	c.(3127-3129)atG>atC	p.M1043I		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(128)|p.M1043V(21)|p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAACAAATGAATGATGCAC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	55					0	0	1	0	0	C	178952074	G	C	178952074	3	2	29	1	0	0	0	0	1	0	0	0	11913	1290	45	4	3207	4	PIK3CA	3	178952074	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		178952074	19070356	5	634											
MTTP	4547	broad.mit.edu	37	chr4	100534244	100534244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaatgctgtcagcatctGgcgaccctatcagtgtggtg	11	11	3	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr4:100534244G>A	uc011cej.2	+	14	2258	c.2245G>A	c.(2245-2247)Ggc>Agc	p.G749S	MTTP_uc003hvc.4_Missense_Mutation_p.G722S	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	722					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GTCAGCATCTGGCGACCCTAT	0.423													3	75					0	0	1	0	0	A	100534244	G	A	100534244	3	1	29	1	0	0	0	0	1	0	0	0	9964	1348	47	2	2222	2	MTTP	4	100534244	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		100534244	90620032	6	635											
ADAM29	11086	broad.mit.edu	37	chr4	175897117	175897117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctaccacgtttgaacaTctggtatacaagatggacag	8	8	2	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr4:175897117T>C	uc003iuc.3	+	4	1111	c.441T>C	c.(439-441)caT>caC	p.H147H	ADAM29_uc003iud.3_Silent_p.H147H|ADAM29_uc010irr.3_Silent_p.H147H|ADAM29_uc011cki.2_Silent_p.H147H|ADAM29_uc021xuo.1_Silent_p.H147H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	147					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGTTTGAACATCTGGTATACA	0.368													46	78					0	0	1	0	0	C	175897117	T	C	175897117	2	2	29	1	0	0	0	0	0	0	0	1	247	1432	50	3		3	ADAM29	4	175897117	Silent	SNP	T	TCGA-BJ-A3EZ-01A-11D-A202-08	75362873	175897117	15257159	7	636											
MTMR12	54545	broad.mit.edu	37	chr5	32230250	32230250	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgatatgcggtaacaaCaaaccatggtagtcagtgga	10	10	1	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr5:32230250C>A	uc003jhq.3	-	15	2048	c.1878G>T	c.(1876-1878)ttG>ttT	p.L626F	MTMR12_uc010iuk.3_Missense_Mutation_p.L572F|MTMR12_uc010iul.3_Missense_Mutation_p.L516F	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	626	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCGGTAACAACAAACCATGGT	0.483													72	96					0	0	1	0	0	A	32230250	C	A	32230250	3	1	29	1	0	0	0	0	1	0	0	0	9941	477	17	4	369	4	MTMR12	5	32230250	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08		32230250	148685010	8	637											
CAMK2A	815	broad.mit.edu	37	chr5	149602592	149602592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagatctgtggaagtggaCgatctgccatttgccatccc	10	13	2	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr5:149602592C>T	uc003lrt.2	-	17	1641	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	CAMK2A_uc003lru.2_Missense_Mutation_p.V465I	NM_015981	NP_057065	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 1, mRNA.	465					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.I475I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGTGGACGATCTGCCAT	0.632													57	67					0	0	1	0	0	T	149602592	C	T	149602592	3	4	29	1	0	0	0	0	1	0	0	0	2599	536	19	1	51	1	CAMK2A	5	149602592	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	117372342	149602592	31312668	9	638											
INTS1	26173	broad.mit.edu	37	chr7	1542823	1542823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtctcctgggggaggGtgccctgcagagaaaggaga	17	7	1	3			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:1542823G>A	uc003skn.2	-	2	164	c.63C>T	c.(61-63)caC>caT	p.H21H	INTS1_uc003skq.2_Silent_p.H21H	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	21					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGGGGGAGGGTGCCCTGCAG	0.542													30	50					0	0	1	0	0	A	1542823	G	A	1542823	2	1	29	1	0	0	0	0	0	0	0	1	7775	1252	44	2		2	INTS1	7	1542823	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		1542823	157595840	10	639											
CLIP2	7461	broad.mit.edu	37	chr7	73731926	73731926	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cggccgtggggggaagcactCcagccccatgggccggacat	16	14	0	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:73731926C>G	uc003uam.3	+	1	377	c.50C>G	c.(49-51)tCc>tGc	p.S17C	CLIP2_uc003uan.3_Missense_Mutation_p.S17C	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	17						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGAAGCACTCCAGCCCCATG	0.672													65	80					0	0	1	0	0	G	73731926	C	G	73731926	3	3	29	1	0	0	0	0	1	0	0	0	3533	855	30	4	52	4	CLIP2	7	73731926	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	72189103	73731926	85406737	11	640											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				46	63					0	0	1	0	0	T	140453136	A	T	140453136	3	4	29	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08	66721210	140453136	18685527	12	641											
TMEM176B	28959	broad.mit.edu	37	chr7	150490266	150490266	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgtacccagtggtagggaaGacagggtctgagcgatcaca	14	9	2	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:150490266G>C	uc022apx.1	-	3	636	c.510C>G	c.(508-510)gtC>gtG	p.V170V	TMEM176B_uc003whu.4_Silent_p.V170V|TMEM176B_uc003whv.4_Silent_p.V133V|TMEM176B_uc003whw.4_Silent_p.V170V	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	170					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTAGGGAAGACAGGGTCTG	0.507													53	69					0	0	1	0	0	C	150490266	G	C	150490266	2	2	29	1	0	0	0	0	0	0	0	1	16090	929	33	4		4	TMEM176B	7	150490266	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	10037130	150490266	8648397	13	642											
ABP1	26	broad.mit.edu	37	chr7	150558122	150558122	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgggaactccgtgggctTcctgctccggccattcaact	10	15	1	0			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:150558122T>A	uc003wia.1	+	4	2228	c.2138T>A	c.(2137-2139)tTc>tAc	p.F713Y	ABP1_uc003why.1_Missense_Mutation_p.F694Y|ABP1_uc003whz.1_Missense_Mutation_p.F694Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	694					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TCCGTGGGCTTCCTGCTCCGG	0.627													41	50					0	0	1	0	0	A	150558122	T	A	150558122	3	1	29	1	0	0	0	0	1	0	0	0	98	1783	62	5	2095	5	ABP1	7	150558122	Missense_Mutation	SNP	T	TCGA-BJ-A3EZ-01A-11D-A202-08	67856	150558122	8580541	14	643											
LETM2	137994	broad.mit.edu	37	chr8	38264955	38264955	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctatttcattacctaaaGgacccatcacttcttctgaa	3	13	4	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr8:38264955G>T	uc003xlm.2	+	9	1478	c.1246G>T	c.(1246-1248)Gga>Tga	p.G416*	LETM2_uc003xll.2_Nonsense_Mutation_p.G368*|LETM2_uc003xln.2_Nonsense_Mutation_p.G260*|LETM2_uc003xlo.2_Nonsense_Mutation_p.G260*	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	463						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ATTACCTAAAGGACCCATCAC	0.388													68	113					0	0	1	0	0	T	38264955	G	T	38264955	4	4	29	1	0	0	0	0	0	1	0	0	8735	1001	35	4	1128	4	LETM2	8	38264955	Nonsense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		38264955	108099067	15	644											
CORO2A	7464	broad.mit.edu	37	chr9	100919655	100919655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagtaatgggcagggctaGgactttctagaaacccaggc	13	9	1	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr9:100919655G>A	uc004ayn.2	-	1	404	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CORO2A_uc004ayl.3_Intron|CORO2A_uc004aym.3_Intron			Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	0					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ggcagggctaggactttctag	0.512													5	14					0	0	1	0	0	A	100919655	G	A	100919655	2	1	29	1	0	0	0	0	0	0	0	1	3756	1015	35	2		2	CORO2A	9	100919655	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		100919655	40293776	16	645											
NUDT15	55270	broad.mit.edu	37	chr13	48611888	48611888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcccgcgcgctatgacGgccagcgcacagccgcgcgg	14	18	0	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr13:48611888G>A	uc001vbw.1	+	0	186	c.6G>A	c.(4-6)acG>acA	p.T2T	SUCLA2_uc010tgd.2_5'UTR|NUDT15_uc001vbv.3_Silent_p.T2T	NM_018283	NP_060753	Q9NV35	NUD15_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 15 (NUDT15), mRNA.	2							hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GCGCTATGACGGCCAGCGCAC	0.721											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	0					0	0	1	0	0	A	48611888	G	A	48611888	2	1	29	1	0	0	0	0	0	0	0	1	10731	1103	39	1		1	NUDT15	13	48611888	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		48611888	66557990	17	646											
KIAA0556	23247	broad.mit.edu	37	chr16	27763240	27763240	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggctggcttgggggctgatGaacgggtaggactggagctg	20	6	0	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:27763240G>C	uc002dow.3	+	16	3571	c.3547G>C	c.(3547-3549)Gaa>Caa	p.E1183Q		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1183										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGGGGCTGATGAACGGGTAGG	0.612													22	20					0	0	1	0	0	C	27763240	G	C	27763240	3	2	29	1	0	0	0	0	1	0	0	0	8183	1291	45	4	3613	4	KIAA0556	16	27763240	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		27763240	62591513	18	647											
ZNF48	197407	broad.mit.edu	37	chr16	30409512	30409512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggaaaggagtttgcccGgggatccgacctggtgaagc	17	8	0	1	rs145091254		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:30409512G>A	uc021tgi.1	+	2	1055	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	ZNF48_uc021tgj.1_Missense_Mutation_p.R191Q|ZNF48_uc021tgk.1_Missense_Mutation_p.R314Q|ZNF48_uc002dya.2_Missense_Mutation_p.R314Q	NM_001214906	NP_001201835	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 2, mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GAGTTTGCCCGGGGATCCGAC	0.622													43	42					0	0	1	0	0	A	30409512	G	A	30409512	3	1	29	1	0	0	0	0	1	0	0	0	17931	1116	39	1	947	1	ZNF48	16	30409512	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	2646272	30409512	59945241	19	648											
CIRH1A	84916	broad.mit.edu	37	chr16	69200994	69200994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagccccttccaaatgacaAaaccttactctacaatccat	2	14	1	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:69200994A>G	uc002ews.4	+	15	1946	c.1850A>G	c.(1849-1851)aAa>aGa	p.K617R	CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Missense_Mutation_p.K534R|CIRH1A_uc010cfi.3_Missense_Mutation_p.K419R	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	617						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCAAATGACAAAACCTTACTC	0.378													59	70					0	0	1	0	0	G	69200994	A	G	69200994	3	3	29	1	0	0	0	0	1	0	0	0	3434	14	1	3	1908	3	CIRH1A	16	69200994	Missense_Mutation	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08	38791482	69200994	21153759	20	649											
ARHGEF15	22899	broad.mit.edu	37	chr17	8218800	8218800	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctgctgaccgacaccttCgtgctgagccaggcactccg	12	16	0	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:8218800C>T	uc002glc.3	+	6	1484	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	ARHGEF15_uc002gld.3_Silent_p.F443F|ARHGEF15_uc010vuw.2_Silent_p.F332F	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	443	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCGACACCTTCGTGCTGAGCC	0.617													50	127					0	0	1	0	0	T	8218800	C	T	8218800	2	4	29	1	0	0	0	0	0	0	0	1	898	883	31	1		1	ARHGEF15	17	8218800	Silent	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08		8218800	72976410	21	650											
DNAH9	1770	broad.mit.edu	37	chr17	11757354	11757354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagtcatttggctctcCgcctctggccgtcagcaatg	11	13	4	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:11757354C>T	uc002gne.3	+	49	9610	c.9542C>T	c.(9541-9543)cCg>cTg	p.P3181L	DNAH9_uc010coo.3_Missense_Mutation_p.P2475L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3181	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P3181Q(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGGCTCTCCGCCTCTGGCC	0.572													36	47					0	0	1	0	0	T	11757354	C	T	11757354	3	4	29	1	0	0	0	0	1	0	0	0	4608	652	23	1	9740	1	DNAH9	17	11757354	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	3538554	11757354	69437856	22	651											
FLII	2314	broad.mit.edu	37	chr17	18149316	18149316	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacttggcttcgtcagggtCtgatgcccggcccacccagg	12	15	2	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:18149316C>T	uc002gsr.1	-	25	3379	c.3328G>A	c.(3328-3330)Gac>Aac	p.D1110N	FLII_uc002gsq.1_Missense_Mutation_p.D981N|FLII_uc010vxn.1_Missense_Mutation_p.D1079N|FLII_uc010vxo.1_Missense_Mutation_p.D1055N	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	1110					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCGTCAGGGTCTGATGCCCGG	0.617													21	43					0	0	1	0	0	T	18149316	C	T	18149316	3	4	29	1	0	0	0	0	1	0	0	0	5925	913	32	2	501	2	FLII	17	18149316	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	6391962	18149316	63045894	23	652											
DHX8	1659	broad.mit.edu	37	chr17	41585706	41585706	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttctattctgctcgtaGgtgatatcctggtcttcctg	9	9	3	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:41585706G>A	uc002idu.1	+	16	2393	c.2321_splice	c.e16-1	p.G774_splice	DHX8_uc010wif.1_Splice_Site_p.G683_splice|DHX8_uc010wig.2_Splice_Site_p.G774_splice	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	774	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCTGCTCGTAGGTGATATCCT	0.388													43	84					0	0	1	0	0	A	41585706	G	A	41585706	5	1	29	1	0	0	0	0	0	0	1	0	4515	1014	35	2	2382	2	DHX8	17	41585706	Splice_Site	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	23436390	41585706	39609504	24	653											
CYTH1	9267	broad.mit.edu	37	chr17	76695039	76695039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatggcaaaggagaggaCgtaacaagtatctaaagatg	13	4	1	3			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:76695039C>T	uc021ueg.1	-	7	633	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	CYTH1_uc002jvw.3_Missense_Mutation_p.V188I|U6_uc021ueh.1_5'Flank|CYTH1_uc010wtw.1_Missense_Mutation_p.V129I|CYTH1_uc010wtx.1_Missense_Mutation_p.V129I	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	188	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AAGGAGAGGACGTAACAAGTA	0.478													7	232					0	0	1	0	0	T	76695039	C	T	76695039	3	4	29	1	0	0	0	0	1	0	0	0	4203	536	19	1	658	1	CYTH1	17	76695039	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	35109333	76695039	4500171	25	654											
ARRDC5	645432	broad.mit.edu	37	chr19	4891083	4891083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtgatctgggttcacgGgtaacactccgtcctctgac	11	12	4	2			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr19:4891083G>A	uc002mbm.3	-	2	1004	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	335					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGGGTTCACGGGTAACACTCC	0.512													38	56					0	0	1	0	0	A	4891083	G	A	4891083	3	1	29	1	0	0	0	0	1	0	0	0	986	1232	43	2	28	2	ARRDC5	19	4891083	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		4891083	54237900	26	655											
ZNF337	26152	broad.mit.edu	37	chr20	25656557	25656557	+	Frame_Shift_Del	DEL	T	T	-													tgcacacaaaaggcttctccTctgagtgtgtgatctgatgt							TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr20:25656557delT	uc002wva.3	-	3	1889	c.1367delA	c.(1366-1368)gagfs	p.E456fs	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Frame_Shift_Del_p.E424fs|ZNF337_uc002wvc.3_Frame_Shift_Del_p.E456fs	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGCTTCTCCTCTGAGTGTGT	0.453													99	132	---	---	---	---						-	25656557	T	-	25656557	7	5	29	1	0	1	0	1	0	0	0	0	17850	1551	54	0	892	0	ZNF337	20	25656557	Frame_Shift_Del	DEL	T	TCGA-BJ-A3EZ-01A-11D-A202-08		25656557	37368963	27	656											
SRC	6714	broad.mit.edu	37	chr20	36031692	36031692	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcggaaggagcctgaGgagcggcccaccttcgagta	16	11	0	1			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr20:36031692G>C	uc002xgx.3	+	13	1970	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	SRC_uc002xgy.3_Missense_Mutation_p.E507D|SRC_uc021wdd.1_Non-coding_Transcript	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	507	Protein kinase.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	AGGAGCCTGAGGAGCGGCCCA	0.677													3	15					0	0	1	0	0	C	36031692	G	C	36031692	3	2	29	1	0	0	0	0	1	0	0	0	15133	991	35	4	1563	4	SRC	20	36031692	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	10375135	36031692	26993828	28	657											
USP9Y	8287	broad.mit.edu	37	chrY	14924964	14924964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agactgtttgactgaaatgtAttacatgggcacagcaatta	9	6	0	3			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chrY:14924964A>C	uc004fst.1	+	30	5531	c.4586A>C	c.(4585-4587)tAt>tCt	p.Y1529S	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	1529					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTGAAATGTATTACATGGGC	0.333													29	8					0	0	1	0	0	C	14924964	A	C	14924964	3	2	29	1	0	0	0	0	1	0	0	0	17088	449	16	5	4700	5	USP9Y	24	14924964	Missense_Mutation	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08		14924964	44448602	29	658											
BAI2	576	broad.mit.edu	37	chr1	32207698	32207698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggtgtcagtgagggcaCccgtgcatgtggcccaggct	16	13	1	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr1:32207698C>T	uc001btn.3	-	7	1727	c.1373G>A	c.(1372-1374)gGt>gAt	p.G458D	BAI2_uc010ogo.2_Missense_Mutation_p.G100D|BAI2_uc010ogp.2_Missense_Mutation_p.G391D|BAI2_uc010ogq.2_Missense_Mutation_p.G458D|BAI2_uc001bto.3_Missense_Mutation_p.G458D|BAI2_uc001btq.1_Missense_Mutation_p.G391D|BAI2_uc010ogr.1_Missense_Mutation_p.G391D	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	458	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGAGGGCACCCGTGCATGT	0.677													4	38					0	0	1	0	0	T	32207698	C	T	32207698	3	4	30	1	0	0	0	0	1	0	0	0	1299	507	18	2	3488	2	BAI2	1	32207698	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		32207698	217042923	1	659											
NPAS2	4862	broad.mit.edu	37	chr2	101564729	101564729	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcagaatttgttaaatttCctcccagaacaagaacattc	5	9	1	3			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr2:101564729C>T	uc010yvt.1	+	5	593	c.591C>T	c.(589-591)ttC>ttT	p.F197F	NPAS2_uc002tap.1_Silent_p.F132F	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	132					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTTAAATTTCCTCCCAGAAC	0.348													32	47					0	0	1	0	0	T	101564729	C	T	101564729	2	4	30	1	0	0	0	0	0	0	0	1	10563	854	30	2		2	NPAS2	2	101564729	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		101564729	141634644	2	660											
DHX30	22907	broad.mit.edu	37	chr3	47890987	47890987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaagttcaagcccaacaGcgtcacatataggaccaaat	10	10	2	0			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:47890987G>T	uc003cru.3	+	19	3560	c.3134G>T	c.(3133-3135)aGc>aTc	p.S1045I	DHX30_uc003crt.3_Missense_Mutation_p.S1006I|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	1045						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGCCCAACAGCGTCACATAT	0.592													4	54					0	0	1	0	0	T	47890987	G	T	47890987	3	4	30	1	0	0	0	0	1	0	0	0	4504	971	34	4	3215	4	DHX30	3	47890987	Missense_Mutation	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08		47890987	150131443	3	661											
TIPARP	25976	broad.mit.edu	37	chr3	156421217	156421217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctccattttaggacaCttggtggggttcccacacaa	8	12	1	0			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:156421217C>T	uc003fav.3	+	4	1674	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TIPARP_uc003faw.3_Missense_Mutation_p.L418F|TIPARP_uc021xgg.1_Missense_Mutation_p.L418F	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	418							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTTAGGACACTTGGTGGGGT	0.383													5	42					0	0	1	0	0	T	156421217	C	T	156421217	3	4	30	1	0	0	0	0	1	0	0	0	15921	565	20	2	1266	2	TIPARP	3	156421217	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08	108530230	156421217	41601213	4	662											
RAI14	26064	broad.mit.edu	37	chr5	34826488	34826488	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggaggccttgaacagcctCtcccagctctcctactcaac	7	16	3	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr5:34826488C>T	uc003jis.3	+	17	3251	c.2712C>T	c.(2710-2712)ctC>ctT	p.L904L	RAI14_uc003jir.3_Silent_p.L901L|RAI14_uc010iur.3_Silent_p.L872L|RAI14_uc011coj.2_Silent_p.L901L|RAI14_uc003jit.3_Silent_p.L901L|RAI14_uc011cok.2_Silent_p.L893L	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	901						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGAACAGCCTCTCCCAGCTCT	0.498													28	49					0	0	1	0	0	T	34826488	C	T	34826488	2	4	30	1	0	0	0	0	0	0	0	1	13008	900	32	2		2	RAI14	5	34826488	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		34826488	146088772	5	663											
DOCK5	80005	broad.mit.edu	37	chr8	25226092	25226092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactttcatttcaggtcccCacaaaatcaaattcatccca	2	14	5	0			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr8:25226092C>T	uc003xeg.3	+	32	3426	c.3289C>T	c.(3289-3291)Cac>Tac	p.H1097Y	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.H811Y|DOCK5_uc003xei.3_Missense_Mutation_p.H667Y|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1097						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCAGGTCCCCACAAAATCAA	0.393													14	41					0	0	1	0	0	T	25226092	C	T	25226092	3	4	30	1	0	0	0	0	1	0	0	0	4690	594	21	2	3419	2	DOCK5	8	25226092	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		25226092	121137930	6	664											
CYP2C8	1558	broad.mit.edu	37	chr10	96802700	96802700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtcactgcatggggcaCaccggtggggacaaggtcac	16	10	2	0	rs147133669		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr10:96802700C>T	uc001kkb.3	-	6	1191	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CYP2C8_uc010qoa.2_Missense_Mutation_p.V296M|CYP2C8_uc010qoc.2_Missense_Mutation_p.V264M|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.V280M|CYP2C8_uc021pwl.1_Missense_Mutation_p.V296M|CYP2C8_uc010qod.1_Missense_Mutation_p.V280M	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	366					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCATGGGGCACACCGGTGGGG	0.488													4	113					0	0	1	0	0	T	96802700	C	T	96802700	3	4	30	1	0	0	0	0	1	0	0	0	4167	478	17	2	388	2	CYP2C8	10	96802700	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		96802700	38732047	7	665											
CHRM4	1132	broad.mit.edu	37	chr11	46407206	46407206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccttggtgttctgggtgGcactgcctgagctggactca	14	10	2	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr11:46407206G>A	uc001nct.1	-	0	902	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	301					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GTTCTGGGTGGCACTGCCTGA	0.697													3	44					0	0	1	0	0	A	46407206	G	A	46407206	3	1	30	1	0	0	0	0	1	0	0	0	3379	1203	42	2	541	2	CHRM4	11	46407206	Missense_Mutation	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08		46407206	88599310	8	666											
CRY1	1407	broad.mit.edu	37	chr12	107415951	107415951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagattggcatcaagatcctCaagacactgaagcaaaaatc	7	9	2	4			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr12:107415951C>T	uc001tmi.3	-	1	1037	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	60	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAAGATCCTCAAGACACTGA	0.313													5	85					0	0	1	0	0	T	107415951	C	T	107415951	3	4	30	1	0	0	0	0	1	0	0	0	3903	835	29	2	1626	2	CRY1	12	107415951	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		107415951	26435944	9	667											
LGMN	5641	broad.mit.edu	37	chr14	93172867	93172867	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcagtgggtccggaagtgCagcagggcctctgggtagca	17	9	1	0			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr14:93172867C>A	uc001yav.3	-	12	1513	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	LGMN_uc001yat.3_Intron|LGMN_uc001yau.3_Intron|LGMN_uc001yaw.3_Silent_p.L384L	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	384					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCCGGAAGTGCAGCAGGGCCT	0.627													3	55					0	0	1	0	0	A	93172867	C	A	93172867	2	1	30	1	0	0	0	0	0	0	0	1	8755	697	25	4		4	LGMN	14	93172867	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		93172867	14176673	10	668											
C16orf70	80262	broad.mit.edu	37	chr16	67173971	67173971	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattcctgccaagatgttcTtagcatgcttggctctccac	8	12	2	2			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67173971T>G	uc002erc.3	+	9	830	c.746T>G	c.(745-747)cTt>cGt	p.L249R	C16orf70_uc002erd.3_Missense_Mutation_p.L249R	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	249										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAAGATGTTCTTAGCATGCTT	0.408													4	81					0	0	1	0	0	G	67173971	T	G	67173971	3	3	30	1	0	0	0	0	1	0	0	0	1829	1609	56	5	780	5	C16orf70	16	67173971	Missense_Mutation	SNP	T	TCGA-BJ-A3F0-01A-11D-A202-08		67173971	23180782	11	669											
KIAA0895L	653319	broad.mit.edu	37	chr16	67214355	67214355	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggctgcagcgctgggggGactgccagagccaggggcaa	20	10	0	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67214355G>A	uc002ert.3	-	1	994	c.159C>T	c.(157-159)gtC>gtT	p.V53V	KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Silent_p.V53V|EXOC3L1_uc002erv.1_Non-coding_Transcript	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	53	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCGCTGGGGGGACTGCCAGAG	0.657													8	14					0	0	1	0	0	A	67214355	G	A	67214355	2	1	30	1	0	0	0	0	0	0	0	1	8198	1161	41	2		2	KIAA0895L	16	67214355	Silent	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08	40384	67214355	23140398	12	670											
ACAP1	9744	broad.mit.edu	37	chr17	7251632	7251632	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcccacaggcaggagAaggaggcctggattcacgct	12	14	1	1			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7251632A>G	uc002ggd.2	+	16	1722	c.1516A>G	c.(1516-1518)Aag>Gag	p.K506E		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	506	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CAGGCAGGAGAAGGAGGCCTG	0.627													7	23					0	0	1	0	0	G	7251632	A	G	7251632	3	3	30	1	0	0	0	0	1	0	0	0	118	247	9	3	1582	3	ACAP1	17	7251632	Missense_Mutation	SNP	A	TCGA-BJ-A3F0-01A-11D-A202-08		7251632	73943578	13	671											
EIF4A1	1973	broad.mit.edu	37	chr17	7481488	7481488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttgacgtaggccagAggcattgatgtgcagcaggt	13	8	2	3			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7481488A>G	uc002gho.2	+	20	3565	c.1002A>G	c.(1000-1002)agA>agG	p.R334R	EIF4A1_uc002ghr.1_Intron|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	334	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGTAGGCCAGAGGCATTGATG	0.507													3	74					0	0	1	0	0	G	7481488	A	G	7481488	2	3	30	1	0	0	0	0	0	0	0	1	5024	301	11	3		3	EIF4A1	17	7481488	Silent	SNP	A	TCGA-BJ-A3F0-01A-11D-A202-08	229856	7481488	73713722	14	672											
GNAS	2778	broad.mit.edu	37	chr20	57484597	57484597	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtttgacgtgggtggccaGcgcgatgaacgccgcaagtg	16	9	0	2	rs137854533		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr20:57484597G>T	uc002xzw.3	+	8	2895	c.2610G>T	c.(2608-2610)caG>caT	p.Q870H	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.Q195H|GNAS_uc010gjq.3_Missense_Mutation_p.Q168H|GNAS_uc002xzx.3_Missense_Mutation_p.Q168H|GNAS_uc021wfn.1_Missense_Mutation_p.Q227H|GNAS_uc021wfo.1_Missense_Mutation_p.Q228H|GNAS_uc002yaa.3_Missense_Mutation_p.Q212H|GNAS_uc021wfp.1_Missense_Mutation_p.Q213H|GNAS_uc002yad.3_Missense_Mutation_p.Q118H|GNAS_uc002yae.3_Missense_Mutation_p.Q152H	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	227					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.Q227H(7)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGGTGGCCAGCGCGATGAAC	0.512			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			13	35					0	0	1	0	0	T	57484597	G	T	57484597	3	4	30	1	0	0	0	0	1	0	0	0	6510	962	34	4	3532	4	GNAS	20	57484597	Missense_Mutation	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08		57484597	5540923	15	673											
CSMD2	114784	broad.mit.edu	37	chr1	34180219	34180219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggcgagctccacaggCgccgtctgccccccaggcac	13	18	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:34180219C>T	uc001bxm.1	-	20	3551	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	CSMD2_uc001bxn.1_Missense_Mutation_p.R1085H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1085	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCCACAGGCGCCGTCTGCC	0.592													20	341					0	0	1	0	0	T	34180219	C	T	34180219	3	4	31	1	0	0	0	0	1	0	0	0	3945	768	27	1	7405	1	CSMD2	1	34180219	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		34180219	215070402	1	674											
COL24A1	255631	broad.mit.edu	37	chr1	86250007	86250007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctcctcggtgacctcTtttaccttgaattccaggtt	8	11	1	2			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:86250007T>C	uc001dlj.3	-	48	4177	c.4102A>G	c.(4102-4104)Aga>Gga	p.R1368G	COL24A1_uc001dli.3_Missense_Mutation_p.R504G|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R668G|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1368	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CGGTGACCTCTTTTACCTTGA	0.453													3	117					0	0	1	0	0	C	86250007	T	C	86250007	3	2	31	1	0	0	0	0	1	0	0	0	3683	1617	56	3	1090	3	COL24A1	1	86250007	Missense_Mutation	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08	52069788	86250007	163000614	2	675											
TTC30B	150737	broad.mit.edu	37	chr2	178416303	178416303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgtcttgcttcctgtaCttgtatggtaagtttccgga	10	7	1	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr2:178416303C>T	uc002uln.3	-	0	1222	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I	TTC30B_uc010zfc.1_Missense_Mutation_p.V169I	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	397					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCCTGTACTTGTATGGTA	0.448													6	330					0	0	1	0	0	T	178416303	C	T	178416303	3	4	31	1	0	0	0	0	1	0	0	0	16696	565	20	2	812	2	TTC30B	2	178416303	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		178416303	64783070	3	676											
STXBP5L	9515	broad.mit.edu	37	chr3	120628502	120628502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtagcagcagtggcaGtaacagtggtggtggggctg	19	6	0	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr3:120628502G>A	uc003eec.4	+	1	217	c.77G>A	c.(76-78)aGt>aAt	p.S26N	STXBP5L_uc011bji.2_Missense_Mutation_p.S26N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	26					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCAGTGGCAGTAACAGTGGT	0.478													3	66					0	0	1	0	0	A	120628502	G	A	120628502	3	1	31	1	0	0	0	0	1	0	0	0	15356	1029	36	2	79	2	STXBP5L	3	120628502	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		120628502	77393928	4	677											
ENPEP	2028	broad.mit.edu	37	chr4	111398002	111398002	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaccaggatcacccggctCccggagctgaagaggccctc	13	15	1	3			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:111398002C>T	uc003iab.4	+	0	774	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	144					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCACCCGGCTCCCGGAGCTGA	0.622													19	202					0	0	1	0	0	T	111398002	C	T	111398002	2	4	31	1	0	0	0	0	0	0	0	1	5128	842	30	2		2	ENPEP	4	111398002	Silent	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		111398002	79756274	5	678											
FNIP2	57600	broad.mit.edu	37	chr4	159750278	159750278	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccaagtgctgccagggAagcagcagtgtcagcagcag	14	11	2	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:159750278A>G	uc003iqe.4	+	2	465	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FNIP2_uc003iqd.2_Silent_p.G94G	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	94					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCCAGGGAagcagcagtg	0.458													3	25					0	0	1	0	0	G	159750278	A	G	159750278	2	3	31	1	0	0	0	0	0	0	0	1	5976	233	9	3		3	FNIP2	4	159750278	Silent	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08	48352276	159750278	31403998	6	679											
HLA-DRA	3122	broad.mit.edu	37	chr6	32411670	32411670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagcaatgcagcagaaCgcagggggcctctgtaaggc	14	10	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:32411670C>T	uc003obh.3	+	3	857	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	HLA-DRA_uc003obi.3_Missense_Mutation_p.R225C	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	250					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TGCAGCAGAACGCAGGGGGCC	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				8	115					0	0	1	0	0	T	32411670	C	T	32411670	3	4	31	1	0	0	0	0	1	0	0	0	7207	536	19	1	762	1	HLA-DRA	6	32411670	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		32411670	138703397	7	680											
ELOVL5	60481	broad.mit.edu	37	chr6	53139895	53139895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctaatacttacagtggccGcaggggacccagttcatcac	9	13	3	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:53139895G>A	uc011dwx.2	-	5	941	c.570C>T	c.(568-570)tgC>tgT	p.C190C	ELOVL5_uc003pbq.1_Silent_p.C163C|ELOVL5_uc003pbr.2_Silent_p.C163C|ELOVL5_uc003pbs.2_Silent_p.C163C	NM_001242828	NP_001229757	Q9NYP7	ELOV5_HUMAN	Homo sapiens ELOVL fatty acid elongase 5 (ELOVL5), transcript variant 2, mRNA.	163				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).	fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TACAGTGGCCGCAGGGGACCC	0.517													3	55					0	0	1	0	0	A	53139895	G	A	53139895	2	1	31	1	0	0	0	0	0	0	0	1	5077	1079	38	1		1	ELOVL5	6	53139895	Silent	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08	20728225	53139895	117975172	8	681											
HOXA13	3209	broad.mit.edu	37	chr7	27237982	27237982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcccgttcaagttctttTaattgcaccttggtataagg	7	8	2	0	rs35608915	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:27237982T>C	uc003szb.1	-	1	1031	c.1002A>G	c.(1000-1002)ttA>ttG	p.L334L	HOTTIP_uc022aau.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	Homo sapiens homeobox A13 (HOXA13), mRNA.	334					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CAAGTTCTTTTAATTGCACCT	0.507			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	214					0	0	1	0	0	C	27237982	T	C	27237982	2	2	31	1	0	0	0	0	0	0	0	1	7291	1751	61	3		3	HOXA13	7	27237982	Silent	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		27237982	131900681	9	682											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				6	102					0	0	1	0	0	T	140453136	A	T	140453136	3	4	31	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08	113215154	140453136	18685527	10	683											
ANK1	286	broad.mit.edu	37	chr8	41554019	41554019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggcgctgcgcacgtcCgtggcgggatcaccactcgc	17	14	1	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr8:41554019C>T	uc003xom.3	-	26	3227	c.2945G>A	c.(2944-2946)cGg>cAg	p.R982Q	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R257Q|ANK1_uc003xoi.3_Missense_Mutation_p.R941Q|ANK1_uc003xoj.3_Missense_Mutation_p.R941Q|ANK1_uc003xok.3_Missense_Mutation_p.R941Q|ANK1_uc003xol.3_Missense_Mutation_p.R941Q	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.	941	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCGCACGTCCGTGGCGGGAT	0.682													4	67					0	0	1	0	0	T	41554019	C	T	41554019	3	4	31	1	0	0	0	0	1	0	0	0	620	652	23	1	3217	1	ANK1	8	41554019	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		41554019	104810003	11	684											
BAMBI	25805	broad.mit.edu	37	chr10	28970195	28970195	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattgttttcaggtgaaattCgatgctactgtgatgctgcc	10	8	1	2			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr10:28970195C>T	uc001iuj.1	+	1	488	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_012342	NP_036474	Q13145	BAMBI_HUMAN	Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA.	29					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGTGAAATTCGATGCTACTG	0.433													3	83					0	0	1	0	0	T	28970195	C	T	28970195	4	4	31	1	0	0	0	0	0	1	0	0	1306	876	31	1	91	1	BAMBI	10	28970195	Nonsense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		28970195	106564552	12	685											
OR4X1	390113	broad.mit.edu	37	chr11	48285551	48285551	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggcctcattgtggtgaccAtcctggccagcaaagtgctc	11	12	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr11:48285551A>T	uc010rht.2	+	0	139	c.139A>T	c.(139-141)Atc>Ttc	p.I47F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTGGTGACCATCCTGGCCAG	0.493													7	62					0	0	1	0	0	T	48285551	A	T	48285551	3	4	31	1	0	0	0	0	1	0	0	0	11084	217	8	5	141	5	OR4X1	11	48285551	Missense_Mutation	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08		48285551	86720965	13	686											
VPS13C	54832	broad.mit.edu	37	chr15	62305292	62305292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaatttacattccagtaGgcgctaagactatcaagtcg	8	10	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr15:62305292G>A	uc002agz.3	-	10	862	c.771C>T	c.(769-771)gcC>gcT	p.A257A	VPS13C_uc002aha.3_Silent_p.A214A|VPS13C_uc002ahb.2_Silent_p.A257A|VPS13C_uc002ahc.2_Silent_p.A214A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	257					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTCCAGTAGGCGCTAAGAC	0.348													9	100					0	0	1	0	0	A	62305292	G	A	62305292	2	1	31	1	0	0	0	0	0	0	0	1	17188	987	35	2		2	VPS13C	15	62305292	Silent	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		62305292	40226100	14	687											
COIL	8161	broad.mit.edu	37	chr17	55016500	55016500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggtcaatcaactcttTccaaaatacagtgatctgag	7	9	5	2			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr17:55016500T>C	uc002iuu.3	-	6	1694	c.1663A>G	c.(1663-1665)Aaa>Gaa	p.K555E		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	555						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATCAACTCTTTCCAAAATACA	0.388													6	141					0	0	1	0	0	C	55016500	T	C	55016500	3	2	31	1	0	0	0	0	1	0	0	0	3665	1792	62	3	71	3	COIL	17	55016500	Missense_Mutation	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		55016500	26178710	15	688											
CEP192	55125	broad.mit.edu	37	chr18	13100361	13100361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaacttttaactcgtTtgacctccaaaccatttgga	7	9	0	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr18:13100361T>G	uc010xac.2	+	37	6801	c.6721T>G	c.(6721-6723)Ttg>Gtg	p.L2241V	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1766V|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L663V|CEP192_uc002krx.3_Missense_Mutation_p.L245V|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1836										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTTAACTCGTTTGACCTCCAA	0.363													8	117					0	0	1	0	0	G	13100361	T	G	13100361	3	3	31	1	0	0	0	0	1	0	0	0	3251	1838	64	5	6867	5	CEP192	18	13100361	Missense_Mutation	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		13100361	64976887	16	689											
SPTBN4	57731	broad.mit.edu	37	chr19	41026051	41026051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgctcgtggtgctgcGtaaccaggtgcccactcggg	15	14	0	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:41026051G>A	uc002ony.3	+	15	3733	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	SPTBN4_uc002onx.3_Missense_Mutation_p.R1216H|SPTBN4_uc002onz.3_Missense_Mutation_p.R1216H|SPTBN4_uc010egx.3_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1216					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGTGCTGCGTAACCAGGTG	0.672													3	20					0	0	1	0	0	A	41026051	G	A	41026051	3	1	31	1	0	0	0	0	1	0	0	0	15120	1145	40	1	3705	1	SPTBN4	19	41026051	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		41026051	18102932	17	690											
ZNF665	79788	broad.mit.edu	37	chr19	53668940	53668940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgctctaaaggctttgCcacactcattacacttgtaa	6	10	2	0			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:53668940C>T	uc010eqm.1	-	3	903	c.803G>A	c.(802-804)gGc>gAc	p.G268D		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAGGCTTTGCCACACTCATT	0.393													5	248					0	0	1	0	0	T	53668940	C	T	53668940	3	4	31	1	0	0	0	0	1	0	0	0	18070	739	26	2	1237	2	ZNF665	19	53668940	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08	12642889	53668940	5460043	18	691											
NHSL2	340527	broad.mit.edu	37	chrX	71360543	71360543	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaccaagtgtcccgccaccGgcgatgacctgcaatcactt	8	16	1	1			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chrX:71360543G>T	uc011mqa.2	+	5	3145	c.3145G>T	c.(3145-3147)Ggc>Tgc	p.G1049C	NHSL2_uc004eak.1_Missense_Mutation_p.G683C|NHSL2_uc010nli.2_Missense_Mutation_p.G818C	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	1049										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCGCCACCGGCGATGACCT	0.562													3	72					0	0	1	0	0	T	71360543	G	T	71360543	3	4	31	1	0	0	0	0	1	0	0	0	10412	1116	39	4	3167	4	NHSL2	23	71360543	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		71360543	83910017	19	692											
PRPF38B	55119	broad.mit.edu	37	chr1	109235326	109235326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggcgctaccaagccggCggtctccggcaagcagggca	16	15	1	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:109235326C>T	uc001dvv.4	+	0	395	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PRPF38B_uc001dvw.4_5'UTR|PRPF38B_uc010ouz.2_5'UTR	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing B (PRPF38B), transcript variant 1, mRNA.	38					RNA splicing|mRNA processing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ACCAAGCCGGCGGTCTCCGGC	0.667													4	49					0	0	1	0	0	T	109235326	C	T	109235326	3	4	32	1	0	0	0	0	1	0	0	0	12568	768	27	1	115	1	PRPF38B	1	109235326	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		109235326	140015295	1	693											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			85	172					0	0	1	0	0	C	115256529	T	C	115256529	3	2	32	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A3PT-01A-12D-A21Z-08	6021203	115256529	133994092	2	694											
PRPF3	9129	broad.mit.edu	37	chr1	150307507	150307507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagattgagctgacacaccGcatgcctactctgaaagcca	10	12	1	4			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:150307507G>A	uc001eum.4	+	6	992	c.830G>A	c.(829-831)cGc>cAc	p.R277H	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Missense_Mutation_p.R236H|PRPF3_uc010pcb.2_Missense_Mutation_p.R228H|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	277					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	p.R277C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGACACACCGCATGCCTACT	0.458													3	51					0	0	1	0	0	A	150307507	G	A	150307507	3	1	32	1	0	0	0	0	1	0	0	0	12565	1087	38	1	852	1	PRPF3	1	150307507	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	35050978	150307507	98943114	3	695											
GON4L	54856	broad.mit.edu	37	chr1	155796629	155796629	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaaaagaaagcctaccCattggaatgaagagtccacc	8	9	0	4			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:155796629C>T	uc001flz.2	-	3	794	c.697_splice	c.e3+1	p.E233_splice	GON4L_uc001fly.1_Splice_Site_p.E233_splice|GON4L_uc009wrh.1_Splice_Site_p.E233_splice|GON4L_uc001fma.1_Splice_Site_p.E233_splice|GON4L_uc001fmc.3_Splice_Site_p.E233_splice|GON4L_uc001fmd.4_Splice_Site_p.E233_splice|GON4L_uc009wri.3_Splice_Site|GON4L_uc001fme.3_Splice_Site_p.E61_splice	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	233					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAAGCCTACCCATTGGAATGA	0.383													5	77					0	0	1	0	0	T	155796629	C	T	155796629	5	4	32	1	0	0	0	0	0	0	1	0	6572	608	21	2	6263	2	GON4L	1	155796629	Splice_Site	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	5489122	155796629	93453992	4	696											
DISC1	27185	broad.mit.edu	37	chr1	231885806	231885806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtccaggctgccttgcgcCgtggggccactcagcagtga	14	13	1	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:231885806C>T	uc010pxh.2	+	4	1401	c.1348C>T	c.(1348-1350)Cgt>Tgt	p.R450C	DISC1_uc010pwf.2_3'UTR|DISC1_uc010pwj.1_Missense_Mutation_p.R407C|DISC1_uc010pwk.1_Missense_Mutation_p.R407C|DISC1_uc010pwg.1_Missense_Mutation_p.R407C|DISC1_uc010pwh.1_Missense_Mutation_p.R373C|DISC1_uc010pwi.1_Missense_Mutation_p.R373C|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.R418C|DISC1_uc010pwo.2_3'UTR|DISC1_uc010pwq.2_Missense_Mutation_p.R418C|DISC1_uc010pwr.1_Missense_Mutation_p.R418C|DISC1_uc010pws.1_Missense_Mutation_p.R418C|DISC1_uc010pwt.1_Missense_Mutation_p.R418C|DISC1_uc010pwu.1_Missense_Mutation_p.R68C|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Intron|DISC1_uc010pww.2_Missense_Mutation_p.R418C|DISC1_uc001huy.3_Missense_Mutation_p.R418C|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.R418C|DISC1_uc010pxc.1_Missense_Mutation_p.R418C|DISC1_uc010pxe.2_Missense_Mutation_p.R418C|DISC1_uc010pxf.2_Missense_Mutation_p.R418C|DISC1_uc010pxg.2_Missense_Mutation_p.R418C|DISC1_uc010pxd.2_Missense_Mutation_p.R63C|DISC1_uc009xfr.3_Missense_Mutation_p.R373C|DISC1_uc010pxn.1_Missense_Mutation_p.R63C|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Missense_Mutation_p.R63C|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.R418C|DISC1_uc001huz.3_Missense_Mutation_p.R418C|DISC1_uc001hva.3_Missense_Mutation_p.R418C	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	418	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCCTTGCGCCGTGGGGCCAC	0.527													5	94					0	0	1	0	0	T	231885806	C	T	231885806	3	4	32	1	0	0	0	0	1	0	0	0	4538	652	23	1	1625	1	DISC1	1	231885806	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	76089177	231885806	17364815	5	697											
PDE1A	5136	broad.mit.edu	37	chr2	183387037	183387037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacattttttcagtctGttctcctgtaagatacttaa	5	10	3	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr2:183387037G>T	uc002uoq.1	-	0	217	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc010zfq.1_Missense_Mutation_p.Q23K|PDE1A_uc002uos.3_Missense_Mutation_p.Q23K|PDE1A_uc002uov.1_Non-coding_Transcript	NM_005019	NP_005010	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 1, mRNA.	23					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTTTCAGTCTGTTCTCCTGTA	0.398													23	123					0	0	1	0	0	T	183387037	G	T	183387037	3	4	32	1	0	0	0	0	1	0	0	0	11633	1386	48	4	1674	4	PDE1A	2	183387037	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		183387037	59812336	6	698											
SP140	11262	broad.mit.edu	37	chr2	231135315	231135315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagatactgtggatattGcaaacaactccactttggga	8	9	0	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr2:231135315G>A	uc002vql.3	+	14	1574	c.1459G>A	c.(1459-1461)Gca>Aca	p.A487T	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.A373T|SP140_uc002vqm.3_Missense_Mutation_p.A427T|SP140_uc010fxl.3_Missense_Mutation_p.A460T	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	487					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTGGATATTGCAAACAACTC	0.308													12	141					0	0	1	0	0	A	231135315	G	A	231135315	3	1	32	1	0	0	0	0	1	0	0	0	14962	1319	46	2	1634	2	SP140	2	231135315	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	47748278	231135315	12064058	7	699											
ITPR1	3708	broad.mit.edu	37	chr3	4824425	4824425	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctacatattagcccatcaGgtatgatctctcctgtgcct	6	12	3	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr3:4824425G>C	uc003bqc.3	+	49	6815	c.6465_splice	c.e49+1	p.Q2155_splice	ITPR1_uc021wsi.1_Splice_Site_p.Q2122_splice|ITPR1_uc021wsj.1_Splice_Site_p.Q2107_splice|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2170					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TAGCCCATCAGGTATGATCTC	0.527													4	42					0	0	1	0	0	C	4824425	G	C	4824425	5	2	32	1	0	0	0	0	0	0	1	0	7920	1014	35	4	6700	4	ITPR1	3	4824425	Splice_Site	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		4824425	193198005	8	700											
RAPGEF6	51735	broad.mit.edu	37	chr5	130825338	130825338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagttttgtccatttaCttccataatcttaaaagtat	3	8	2	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:130825338C>A	uc003kvp.2	-	15	2033	c.1891G>T	c.(1891-1893)Gta>Tta	p.V631L	RAPGEF6_uc003kvo.2_Missense_Mutation_p.V581L|RAPGEF6_uc010jdi.2_Missense_Mutation_p.V581L|RAPGEF6_uc010jdj.2_Missense_Mutation_p.V581L|RAPGEF6_uc003kvn.2_Missense_Mutation_p.V581L|RAPGEF6_uc003kvq.3_Missense_Mutation_p.V298L|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.V581L|RAPGEF6_uc010jdk.3_Missense_Mutation_p.V581L	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	581					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGTCCATTTACTTCCATAATC	0.259													3	34					0	0	1	0	0	A	130825338	C	A	130825338	3	1	32	1	0	0	0	0	1	0	0	0	13048	565	20	4	3606	4	RAPGEF6	5	130825338	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		130825338	50089922	9	701											
PCDHGC5	56097	broad.mit.edu	37	chr5	140768722	140768722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataaccgttacggcaacagAtcggggcaagcctcccctct	9	14	1	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:140768722A>G	uc003lkc.2	+	0	1271	c.1271A>G	c.(1270-1272)gAt>gGt	p.D424G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	428	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCAACAGATCGGGGCAAG	0.448													7	191					0	0	1	0	0	G	140768722	A	G	140768722	3	3	32	1	0	0	0	0	1	0	0	0	11571	333	12	3		3	PCDHGC5	5	140768722	Missense_Mutation	SNP	A	TCGA-BJ-A3PT-01A-12D-A21Z-08	9943384	140768722	40146538	10	702											
GEMIN5	25929	broad.mit.edu	37	chr5	154315560	154315560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcctttactcgaggagacCaatgtaatgttgatatcgta	9	7	0	2			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:154315560C>A	uc003lvx.3	-	2	433	c.350G>T	c.(349-351)tGg>tTg	p.W117L	GEMIN5_uc011ddk.1_Missense_Mutation_p.W117L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	117					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCGAGGAGACCAATGTAATGT	0.328													8	41					0	0	1	0	0	A	154315560	C	A	154315560	3	1	32	1	0	0	0	0	1	0	0	0	6331	595	21	4	4280	4	GEMIN5	5	154315560	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	13546838	154315560	26599700	11	703											
E2F3	1871	broad.mit.edu	37	chr6	20402610	20402610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgccgccgccgccgcCgctgccgccgccccgggcgc	15	23	0	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr6:20402610C>T	uc003nda.2	+	0	474	c.147C>T	c.(145-147)gcC>gcT	p.A49A	E2F3_uc003ncz.2_Silent_p.A49A|E2F3_uc021ymj.1_5'Flank	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	49	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741													3	75					0	0	1	0	0	T	20402610	C	T	20402610	2	4	32	1	0	0	0	0	0	0	0	1	4868	639	23	1		1	E2F3	6	20402610	Silent	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		20402610	150712457	12	704											
DIRAS2	54769	broad.mit.edu	37	chr9	93375575	93375575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcttgctctttttcccgtCgatctggagactcacggtcc	9	14	3	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:93375575C>A	uc004aqx.1	-	1	646	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	DIRAS2_uc022bjs.1_Missense_Mutation_p.D179Y	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	179					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.D179N(2)|p.I178I(1)|p.I178V(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTTCCCGTCGATCTGGAGA	0.547													3	58					0	0	1	0	0	A	93375575	C	A	93375575	3	1	32	1	0	0	0	0	1	0	0	0	4531	884	31	4	68	4	DIRAS2	9	93375575	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		93375575	47837856	13	705											
PTCH1	5727	broad.mit.edu	37	chr9	98229625	98229625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccgaggtacaatgtccGtaaggtccagcccgtctctc	9	14	1	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:98229625G>A	uc004avk.4	-	14	2521	c.2333C>T	c.(2332-2334)aCg>aTg	p.T778M	PTCH1_uc010mro.3_Missense_Mutation_p.T627M|PTCH1_uc010mrp.3_Missense_Mutation_p.T627M|PTCH1_uc010mrq.3_Missense_Mutation_p.T627M|PTCH1_uc004avl.4_Missense_Mutation_p.T627M|PTCH1_uc004avm.4_Missense_Mutation_p.T777M|PTCH1_uc010mrr.3_Missense_Mutation_p.T712M|LOC100507346_uc022bkm.1_Non-coding_Transcript	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	778					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.T778M(3)|p.T778T(1)|p.T777M(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TACAATGTCCGTAAGGTCCAG	0.473													4	152					0	0	1	0	0	A	98229625	G	A	98229625	3	1	32	1	0	0	0	0	1	0	0	0	12730	1145	40	1	2046	1	PTCH1	9	98229625	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	4854050	98229625	42983806	14	706											
PSMB7	5695	broad.mit.edu	37	chr9	127177679	127177679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaagcctccaactggtGgagcatacaccgacacagcc	10	13	0	1	rs143961480		TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:127177679G>A	uc004boj.3	-	0	43	c.26C>T	c.(25-27)cCa>cTa	p.P9L	PSMB7_uc010mwm.3_Missense_Mutation_p.P9L	NM_002799	NP_002790	Q99436	PSB7_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 7 (PSMB7), mRNA.	9					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						TCCAACTGGTGGAGCATACAC	0.607											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	76					0	0	1	0	0	A	127177679	G	A	127177679	3	1	32	1	0	0	0	0	1	0	0	0	12682	1348	47	2	839	2	PSMB7	9	127177679	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	28948054	127177679	14035752	15	707											
CELF2	10659	broad.mit.edu	37	chr10	11299727	11299727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacagaaaattgttcataGgaatggtatcgaagaaatgt	10	3	1	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr10:11299727G>A	uc001ikk.2	+	4	590	c.430G>A	c.(430-432)Gga>Aga	p.G144R	CELF2_uc010qbi.2_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.G137R|CELF2_uc001iki.4_Missense_Mutation_p.G137R|CELF2_uc001ikl.4_Missense_Mutation_p.G144R|CELF2_uc010qbk.1_Non-coding_Transcript|CELF2_uc010qbl.1_Missense_Mutation_p.G113R|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.4_Missense_Mutation_p.G113R|CELF2_uc001ikp.4_Missense_Mutation_p.G113R|CELF2_uc009xiw.1_3'UTR|CELF2_uc010qbo.1_Missense_Mutation_p.G26R|CELF2_uc010qbp.1_5'UTR	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	137	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATTGTTCATAGGAATGGTATC	0.418													10	72					0	0	1	0	0	A	11299727	G	A	11299727	3	1	32	1	0	0	0	0	1	0	0	0	3216	1001	35	2	505	2	CELF2	10	11299727	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		11299727	124235020	16	708											
UBASH3B	84959	broad.mit.edu	37	chr11	122680513	122680513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaactggaatatggcaGctgacagatccaccaatcct	10	10	0	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr11:122680513G>A	uc001pyi.4	+	13	2229	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	623	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GAATATGGCAGCTGACAGATC	0.443													3	110					0	0	1	0	0	A	122680513	G	A	122680513	2	1	32	1	0	0	0	0	0	0	0	1	16837	962	34	2		2	UBASH3B	11	122680513	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		122680513	12326003	17	709											
OR4K5	79317	broad.mit.edu	37	chr14	20389468	20389468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcttcagctgcaatggcaAaggcattttctacgctggct	10	10	3	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr14:20389468A>C	uc010tkw.2	+	0	703	c.703A>C	c.(703-705)Aag>Cag	p.K235Q		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A234P(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCAATGGCAAAGGCATTTTC	0.418													21	541					0	0	1	0	0	C	20389468	A	C	20389468	3	2	32	1	0	0	0	0	1	0	0	0	11073	15	1	5	705	5	OR4K5	14	20389468	Missense_Mutation	SNP	A	TCGA-BJ-A3PT-01A-12D-A21Z-08		20389468	86960072	18	710											
MCTP2	55784	broad.mit.edu	37	chr15	94858758	94858758	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttctccatctgtgcagGtaccgggggaagccagtgat	13	11	2	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr15:94858758G>A	uc002btj.3	+	3	594	c.529_splice	c.e3-1	p.V177_splice	MCTP2_uc010urg.1_Splice_Site_p.V177_splice|MCTP2_uc002bti.2_Splice_Site_p.V177_splice|MCTP2_uc010boj.3_Splice_Site|MCTP2_uc010bok.3_Splice_Site_p.V177_splice|MCTP2_uc002btg.4_Splice_Site_p.V177_splice|MCTP2_uc002bth.4_Splice_Site_p.V177_splice	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	177					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATCTGTGCAGGTACCGGGGGA	0.512													3	39					0	0	1	0	0	A	94858758	G	A	94858758	5	1	32	1	0	0	0	0	0	0	1	0	9401	1275	44	2	539	2	MCTP2	15	94858758	Splice_Site	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		94858758	7672634	19	711											
QPRT	23475	broad.mit.edu	37	chr16	29708392	29708392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcctgcaggaggccGtgcaggcagctgaggctggt	18	11	0	1	rs147793931	byFrequency	TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:29708392G>A	uc002dto.3	+	2	703	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Non-coding_Transcript	NM_014298	NP_055113	Q15274	NADC_HUMAN	Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	209					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GCAGGAGGCCGTGCAGGCAGC	0.657													3	31					0	0	1	0	0	A	29708392	G	A	29708392	3	1	32	1	0	0	0	0	1	0	0	0	12876	1145	40	1	635	1	QPRT	16	29708392	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		29708392	60646361	20	712											
KIAA0895L	653319	broad.mit.edu	37	chr16	67211930	67211930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttgcccagtgaggtcaGcaacgggaaatcgatggtct	12	11	2	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:67211930G>A	uc002ert.3	-	5	2069	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	KIAA0895L_uc002err.3_Intron|KIAA0895L_uc002ers.3_Silent_p.L257L|KIAA0895L_uc002eru.3_Silent_p.C408C	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	412										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AGTGAGGTCAGCAACGGGAAA	0.607													3	88					0	0	1	0	0	A	67211930	G	A	67211930	2	1	32	1	0	0	0	0	0	0	0	1	8198	962	34	2		2	KIAA0895L	16	67211930	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	37503538	67211930	23142823	21	713											
SLC12A4	6560	broad.mit.edu	37	chr16	67979074	67979074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggagcgcgtgacaatgaCttcattgagcttcacagcag	13	9	2	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:67979074C>A	uc010vkj.1	-	21	3128	c.3088G>T	c.(3088-3090)Gtc>Ttc	p.V1030F	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.V1022F|SLC12A4_uc010vkh.1_Missense_Mutation_p.V997F|SLC12A4_uc002euz.2_Missense_Mutation_p.V1028F|SLC12A4_uc010vki.1_Missense_Mutation_p.V1022F|SLC12A4_uc002eva.2_Missense_Mutation_p.V1028F	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	1028					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGACAATGACTTCATTGAGC	0.577													4	146					0	0	1	0	0	A	67979074	C	A	67979074	3	1	32	1	0	0	0	0	1	0	0	0	14385	565	20	4	183	4	SLC12A4	16	67979074	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	767144	67979074	22375679	22	714											
KDM6B	23135	broad.mit.edu	37	chr17	7750709	7750709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctccccggcaccaccaccaGcagcagcagtagcagcagca	9	19	0	0			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr17:7750709G>C	uc002giw.1	+	9	1572	c.1196G>C	c.(1195-1197)aGc>aCc	p.S399T	KDM6B_uc002gix.3_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	399	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S399T(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCACCACcagcagcagcagt	0.672													4	167					0	0	1	0	0	C	7750709	G	C	7750709	3	2	32	1	0	0	0	0	1	0	0	0	8138	971	34	4	1222	4	KDM6B	17	7750709	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		7750709	73444501	23	715											
GYS1	2997	broad.mit.edu	37	chr19	49488755	49488755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgctgtgcctcgatggcGgtgatctgggacacagtagt	15	8	1	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr19:49488755G>A	uc002plp.3	-	4	1027	c.786C>T	c.(784-786)acC>acT	p.T262T	GYS1_uc010emm.3_Silent_p.T198T|GYS1_uc010xzz.2_Silent_p.T182T|GYS1_uc010yaa.1_Non-coding_Transcript	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	262					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCTCGATGGCGGTGATCTGGG	0.582													3	74					0	0	1	0	0	A	49488755	G	A	49488755	2	1	32	1	0	0	0	0	0	0	0	1	6912	1103	39	1		1	GYS1	19	49488755	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		49488755	9640228	24	716											
XRN2	22803	broad.mit.edu	37	chr20	21346221	21346221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatggtcagaaagccagcaGcagtactgaaacctagtgac	10	9	1	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr20:21346221G>A	uc002wsf.1	+	25	2430	c.2335G>A	c.(2335-2337)Gca>Aca	p.A779T	XRN2_uc002wsg.1_Missense_Mutation_p.A703T|XRN2_uc010zsk.1_Missense_Mutation_p.A725T	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	779					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AAAGCCAGCAGCAGTACTGAA	0.438													3	103					0	0	1	0	0	A	21346221	G	A	21346221	3	1	32	1	0	0	0	0	1	0	0	0	17457	971	34	2	2437	2	XRN2	20	21346221	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		21346221	41679299	25	717											
CHEK2	11200	broad.mit.edu	37	chr22	29091787	29091787	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaagaacttcaggcgccaaGtaggtgggggttccacataa	12	9	1	1			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr22:29091787G>C	uc003adt.1	-	11	1371	c.1299C>G	c.(1297-1299)taC>taG	p.Y433*	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Nonsense_Mutation_p.Y169*|CHEK2_uc010gvh.1_Nonsense_Mutation_p.Y299*|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adu.1_Nonsense_Mutation_p.Y390*|CHEK2_uc003adv.1_Nonsense_Mutation_p.Y361*|CHEK2_uc003adx.1_Nonsense_Mutation_p.Y169*	NM_001005735	NP_001005735	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.	390	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAGGCGCCAAGTAGGTGGGGG	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					8	95					0	0	1	0	0	C	29091787	G	C	29091787	4	2	32	1	0	0	0	0	0	1	0	0	3335	1024	36	4	481	4	CHEK2	22	29091787	Nonsense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		29091787	22212779	26	718											
FRMPD4	9758	broad.mit.edu	37	chrX	12734288	12734288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaacaagaagcccagatAacatacatagattcaaagca	9	8	1	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:12734288A>G	uc004cuz.2	+	14	2216	c.1710A>G	c.(1708-1710)atA>atG	p.I570M	FRMPD4_uc011mij.2_Missense_Mutation_p.I562M	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	570					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGCCCAGATAACATACATAG	0.468													10	201					0	0	1	0	0	G	12734288	A	G	12734288	3	3	32	1	0	0	0	0	1	0	0	0	6059	352	13	3	1768	3	FRMPD4	23	12734288	Missense_Mutation	SNP	A	TCGA-BJ-A3PT-01A-12D-A21Z-08		12734288	142536272	27	719											
PNCK	139728	broad.mit.edu	37	chrX	152936612	152936612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgaagagctcagggtcGctctcgtcgtagaagggggg	18	8	2	3			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:152936612G>A	uc011myu.2	-	7	1083	c.897C>T	c.(895-897)agC>agT	p.S299S	PNCK_uc011myt.2_Silent_p.S233S|PNCK_uc004fhz.4_Silent_p.S114S|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_3'UTR|PNCK_uc011myw.2_3'UTR	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	216	Calmodulin-binding (By similarity).					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGGGTCGCTCTCGTCGT	0.602													51	124					0	0	1	0	0	A	152936612	G	A	152936612	2	1	32	1	0	0	0	0	0	0	0	1	12145	1078	38	1		1	PNCK	23	152936612	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	140202324	152936612	2333948	28	720											
FAM76A	199870	broad.mit.edu	37	chr1	28087061	28087062	+	Frame_Shift_Del	DEL	CA	CA	-													tttgtccaagagcaagaagtCagagaagtcaggagctataa							TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr1:28087061_28087062delCA	uc001bor.3	+	9	1097_1098	c.995_996delCA	c.(994-996)tcafs	p.S332fs	FAM76A_uc001boq.3_Frame_Shift_Del_p.S298fs|FAM76A_uc001bos.3_Frame_Shift_Del_p.S303fs|FAM76A_uc001bot.3_Frame_Shift_Del_p.S269fs|FAM76A_uc010ofm.2_Frame_Shift_Del_p.S218fs	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.	298										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGAAGTCAGAGAAGTCAG	0.48													19	17	---	---	---	---						-	28087062	CA	-	28087061	7	5	33	1	0	1	0	1	0	0	0	0	5624	838	29	0	1033	0	FAM76A	1	28087061	Frame_Shift_Del	DEL	CA	TCGA-BJ-A3PU-01A-11D-A21Z-08		28087061	221163560	1	721											
CSRNP3	80034	broad.mit.edu	37	chr2	166536026	166536026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtttgctgctcctcttcCgaaaatgatagcggtgtgcc	10	11	1	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr2:166536026C>T	uc002udf.3	+	6	1897	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	CSRNP3_uc002udg.3_Silent_p.S507S	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	507					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCTCCTCTTCCGAAAATGATA	0.512													16	37					0	0	1	0	0	T	166536026	C	T	166536026	2	4	33	1	0	0	0	0	0	0	0	1	3965	639	23	1		1	CSRNP3	2	166536026	Silent	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08		166536026	76663347	2	722											
SCAP	22937	broad.mit.edu	37	chr3	47470042	47470042	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccggatctcctccaccagtTggaatgcccgggacaaaggt	11	13	1	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:47470042T>A	uc003crh.1	-	3	626	c.371A>T	c.(370-372)cAa>cTa	p.Q124L	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	124					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCCACCAGTTGGAATGCCCG	0.527													7	201					0	0	1	0	0	A	47470042	T	A	47470042	3	1	33	1	0	0	0	0	1	0	0	0	13877	1812	63	5	3548	5	SCAP	3	47470042	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08		47470042	150552388	3	723											
TNIK	23043	broad.mit.edu	37	chr3	170802927	170802927	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggctgatgattcctcaTcctcttcatcttcatcagtg	7	13	6	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:170802927T>A	uc003fhh.2	-	24	3323	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	TNIK_uc003fhi.2_Missense_Mutation_p.D938V|TNIK_uc003fhj.2_Missense_Mutation_p.D964V|TNIK_uc003fhk.2_Missense_Mutation_p.D985V|TNIK_uc003fhl.2_Missense_Mutation_p.D909V|TNIK_uc003fhm.2_Missense_Mutation_p.D930V|TNIK_uc003fhn.2_Missense_Mutation_p.D956V|TNIK_uc003fho.2_Missense_Mutation_p.D901V|TNIK_uc003fhg.2_Missense_Mutation_p.D171V|TNIK_uc003fhp.3_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	993	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGATTCCTCATCCTCTTCATC	0.478													5	18					0	0	1	0	0	A	170802927	T	A	170802927	3	1	33	1	0	0	0	0	1	0	0	0	16310	1435	50	5	1140	5	TNIK	3	170802927	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	123332885	170802927	27219503	4	724											
FGF5	2250	broad.mit.edu	37	chr4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtccttcctcctcctcCtcttcttcagccacctgatc	4	19	3	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr4:81188003C>T	uc003hmd.3	+	0	262	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_uc003hme.3_Missense_Mutation_p.L9F	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	9					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627													3	91					0	0	1	0	0	T	81188003	C	T	81188003	3	4	33	1	0	0	0	0	1	0	0	0	5855	681	24	2	27	2	FGF5	4	81188003	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08		81188003	109966273	5	725											
LIN54	132660	broad.mit.edu	37	chr4	83857237	83857237	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctttcctttccctatcttaGgcttaaaggcttctggattt	6	11	2	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr4:83857237G>C	uc003hnx.3	-	10	2120	c.1742C>G	c.(1741-1743)cCt>cGt	p.P581R	LIN54_uc003hnz.3_Missense_Mutation_p.P360R|LIN54_uc003hny.3_Missense_Mutation_p.P180R|LIN54_uc010ijt.2_Missense_Mutation_p.P492R|LIN54_uc010iju.2_Missense_Mutation_p.P180R|LIN54_uc010ijv.2_Missense_Mutation_p.P360R	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	581					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCCTATCTTAGGCTTAAAGGC	0.378													17	94					0	0	1	0	0	C	83857237	G	C	83857237	3	2	33	1	0	0	0	0	1	0	0	0	8809	1000	35	4	519	4	LIN54	4	83857237	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	2669234	83857237	107297039	6	726											
DMGDH	29958	broad.mit.edu	37	chr5	78322341	78322341	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctggcctgcattcAtgatagcgtcatacagcgcc	8	16	2	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:78322341A>C	uc003kfs.3	-	12	2102	c.2096T>G	c.(2095-2097)aTg>aGg	p.M699R	DMGDH_uc011cte.1_Missense_Mutation_p.M549R|DMGDH_uc011ctf.1_Missense_Mutation_p.M498R|DMGDH_uc011ctg.1_Missense_Mutation_p.M319R	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	699					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.M699I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCCTGCATTCATGATAGCGTC	0.512													4	96					0	0	1	0	0	C	78322341	A	C	78322341	3	2	33	1	0	0	0	0	1	0	0	0	4581	217	8	5	520	5	DMGDH	5	78322341	Missense_Mutation	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08		78322341	102592919	7	727											
PCDHB6	56130	broad.mit.edu	37	chr5	140530372	140530372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccaaccctcacttccaCgttctcacccgcaatcgcag	5	19	2	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:140530372C>A	uc003lir.3	+	0	534	c.534C>A	c.(532-534)caC>caA	p.H178Q		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	178	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCACTTCCACGTTCTCACCC	0.547													12	357					0	0	1	0	0	A	140530372	C	A	140530372	3	1	33	1	0	0	0	0	1	0	0	0	11546	535	19	4	536	4	PCDHB6	5	140530372	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	62208031	140530372	40384888	8	728											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	65					0	0	1	0	0	T	140453136	A	T	140453136	3	4	33	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08		140453136	18685527	9	729											
MYOM2	9172	broad.mit.edu	37	chr8	2040223	2040223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccgaaacaccaagacGtcggtggtggtgcagtggga	15	10	0	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:2040223G>A	uc003wpx.4	+	15	2016	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	MYOM2_uc011kwi.2_Silent_p.T51T	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	626	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACACCAAGACGTCGGTGGTGG	0.572													6	218					0	0	1	0	0	A	2040223	G	A	2040223	2	1	33	1	0	0	0	0	0	0	0	1	10092	1132	40	1		1	MYOM2	8	2040223	Silent	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		2040223	144323799	10	730											
PSD3	23362	broad.mit.edu	37	chr8	18513180	18513180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagcttctcattcttgaTtgagttgtacagagcctgta	8	8	3	3			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:18513180T>C	uc003wza.3	-	9	2291	c.2188A>G	c.(2188-2190)Atc>Gtc	p.I730V	PSD3_uc003wyx.4_Missense_Mutation_p.I59V|PSD3_uc003wyy.3_Missense_Mutation_p.I196V|PSD3_uc003wyz.3_Missense_Mutation_p.I31V	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	731	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCATTCTTGATTGAGTTGTAC	0.373													3	88					0	0	1	0	0	C	18513180	T	C	18513180	3	2	33	1	0	0	0	0	1	0	0	0	12648	1493	52	3	983	3	PSD3	8	18513180	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	16472957	18513180	127850842	11	731											
SPTAN1	6709	broad.mit.edu	37	chr9	131355261	131355261	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgccccctctgtgcaGgacacgcataactaaggagg	12	12	1	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:131355261G>A	uc004bvm.4	+	23	3298	c.3156_splice	c.e23-1	p.Q1052_splice	SPTAN1_uc011mbg.2_Intron|SPTAN1_uc011mbh.2_Splice_Site_p.Q1064_splice|SPTAN1_uc004bvl.4_Splice_Site_p.Q1052_splice|SPTAN1_uc004bvn.4_Intron	NM_001130438	NP_001123910	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 1, mRNA.	1052					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTCTGTGCAGGACACGCATA	0.532													3	13					0	0	1	0	0	A	131355261	G	A	131355261	5	1	33	1	0	0	0	0	0	0	1	0	15116	1014	35	2	3241	2	SPTAN1	9	131355261	Splice_Site	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		131355261	9858170	12	732											
RXRA	6256	broad.mit.edu	37	chr9	137323832	137323832	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcctgcgcgccatcgtcctCtttaaccctggtatggcctt	9	15	1	0			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:137323832C>T	uc004cfb.2	+	7	1287	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	RXRA_uc004cfc.1_Silent_p.L278L	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	375	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCATCGTCCTCTTTAACCCTG	0.627													22	24					0	0	1	0	0	T	137323832	C	T	137323832	2	4	33	1	0	0	0	0	0	0	0	1	13763	900	32	2		2	RXRA	9	137323832	Silent	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	5968571	137323832	3889599	13	733											
CNOT2	4848	broad.mit.edu	37	chr12	70732321	70732321	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataataaccagcagaaaaaAgggatccaggtgttacctga	9	7	0	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:70732321A>G	uc001svv.3	+	9	1581	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_uc009zro.3_Silent_p.K333K|CNOT2_uc009zrp.3_Silent_p.K313K|CNOT2_uc009zrq.3_Silent_p.K333K|CNOT2_uc001svw.1_Silent_p.K73K	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	333					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323													3	107					0	0	1	0	0	G	70732321	A	G	70732321	2	3	33	1	0	0	0	0	0	0	0	1	3619	69	3	3		3	CNOT2	12	70732321	Silent	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08		70732321	63119574	14	734											
TSPAN8	7103	broad.mit.edu	37	chr12	71519144	71519144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgatctggcaatacaggacCatagaaaacaccaaacccag	7	13	1	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:71519144C>A	uc001swk.1	-	11	1237	c.684G>T	c.(682-684)atG>atT	p.M228I	TSPAN8_uc009zrt.1_Missense_Mutation_p.M228I|TSPAN8_uc001swj.1_Missense_Mutation_p.M228I	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	228					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATACAGGACCATAGAAAACA	0.353													49	73					0	0	1	0	0	A	71519144	C	A	71519144	3	1	33	1	0	0	0	0	1	0	0	0	16650	594	21	4	33	4	TSPAN8	12	71519144	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	786823	71519144	62332751	15	735											
TMEM132D	121256	broad.mit.edu	37	chr12	130184856	130184856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccggcgctgcggtcgtccCagtctctgcccatgatgtgg	13	16	1	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:130184856C>A	uc009zyl.1	-	1	795	c.467G>T	c.(466-468)tGg>tTg	p.W156L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	156						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCGGTCGTCCCAGTCTCTGCC	0.607													13	35					0	0	1	0	0	A	130184856	C	A	130184856	3	1	33	1	0	0	0	0	1	0	0	0	16044	595	21	4	2864	4	TMEM132D	12	130184856	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	58665712	130184856	3667039	16	736											
INO80E	283899	broad.mit.edu	37	chr16	30012109	30012109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcatcatcagataacaGcgagacggaggggacaccca	11	12	2	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:30012109G>A	uc002dvg.1	+	3	337	c.236G>A	c.(235-237)aGc>aAc	p.S79N	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	79					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						TCAGATAACAGCGAGACGGAG	0.587													3	58					0	0	1	0	0	A	30012109	G	A	30012109	3	1	33	1	0	0	0	0	1	0	0	0	7750	971	34	2	250	2	INO80E	16	30012109	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		30012109	60342644	17	737											
CNOT1	23019	broad.mit.edu	37	chr16	58560012	58560012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaattggtgagaatccgggGagcaatgttaatttcactca	11	6	2	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:58560012G>A	uc002env.3	-	44	6777	c.6484C>T	c.(6484-6486)Ccc>Tcc	p.P2162S	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P2157S|CNOT1_uc002ent.3_Missense_Mutation_p.P100S|CNOT1_uc010vik.2_Missense_Mutation_p.P1119S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2162					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATCCGGGGAGCAATGTTA	0.378													32	94					0	0	1	0	0	A	58560012	G	A	58560012	3	1	33	1	0	0	0	0	1	0	0	0	3617	1174	41	2	666	2	CNOT1	16	58560012	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	28547903	58560012	31794741	18	738											
TTC39C	125488	broad.mit.edu	37	chr18	21646063	21646063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgtgaaagtgaagagGctggagtaattgaaacaatc	12	4	0	4			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr18:21646063G>A	uc002kuw.3	+	2	756	c.304G>A	c.(304-306)Gct>Act	p.A102T	TTC39C_uc002kuu.3_Missense_Mutation_p.A41T	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	102							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGTGAAGAGGCTGGAGTAAT	0.358													12	41					0	0	1	0	0	A	21646063	G	A	21646063	3	1	33	1	0	0	0	0	1	0	0	0	16706	1203	42	2	314	2	TTC39C	18	21646063	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		21646063	56431185	19	739											
ZNF700	90592	broad.mit.edu	37	chr19	12060967	12060967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgaatgtaaggaatgcGgaaaagcattcaattatttt	8	4	1	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:12060967G>A	uc010xme.2	+	4	2373	c.2182G>A	c.(2182-2184)Gga>Aga	p.G728R	ZNF700_uc002msu.3_Missense_Mutation_p.G710R|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAGGAATGCGGAAAAGCATT	0.383													3	58					0	0	1	0	0	A	12060967	G	A	12060967	3	1	33	1	0	0	0	0	1	0	0	0	18101	1117	39	1	2142	1	ZNF700	19	12060967	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		12060967	47068016	20	740											
CHST8	64377	broad.mit.edu	37	chr19	34263440	34263440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatcttgcaccgtctcagCacctacaccaagatgctctt	7	14	3	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:34263440C>T	uc002nus.4	+	4	1252	c.747C>T	c.(745-747)agC>agT	p.S249S	CHST8_uc002nut.4_Silent_p.S249S|CHST8_uc002nuu.3_Silent_p.S249S	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	249					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCGTCTCAGCACCTACACCA	0.602													8	108					0	0	1	0	0	T	34263440	C	T	34263440	2	4	33	1	0	0	0	0	0	0	0	1	3410	709	25	2		2	CHST8	19	34263440	Silent	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	22202473	34263440	24865543	21	741											
CGB2	114336	broad.mit.edu	37	chr19	49536439	49536439	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccttccaagcccatcccgActcccggggccctcagacac	8	20	1	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:49536439A>T	uc002plw.3	+	2	676	c.453A>T	c.(451-453)cgA>cgT	p.R151R	SNAR-G2_uc010yae.1_5'Flank|CGB2_uc010yaf.2_Silent_p.R139R	NM_033378	NP_203696			Homo sapiens chorionic gonadotropin, beta polypeptide 2 (CGB2), mRNA.											large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCCCATCCCGACTCCCGGGGC	0.637													5	105					0	0	1	0	0	T	49536439	A	T	49536439	2	4	33	1	0	0	0	0	0	0	0	1	3298	262	10	5		5	CGB2	19	49536439	Silent	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08	15272999	49536439	9592544	22	742											
NLRP8	126205	broad.mit.edu	37	chr19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtctgtgtcacttggccGcagacagcatgtggcacagg	14	10	2	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:56466799G>A	uc002qmh.3	+	2	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_uc010etg.3_Missense_Mutation_p.A459T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	459	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498													4	118					0	0	1	0	0	A	56466799	G	A	56466799	3	1	33	1	0	0	0	0	1	0	0	0	10483	1087	38	1	1385	1	NLRP8	19	56466799	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	6930360	56466799	2662184	23	743											
HLCS	3141	broad.mit.edu	37	chr21	38137432	38137432	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggagatgagcagagtagaaaGagcacatcccacagggctca	13	9	1	5			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:38137432G>C	uc010gnb.3	-	8	2975	c.1561C>G	c.(1561-1563)Ctt>Gtt	p.L521V	HLCS_uc021wjb.1_Missense_Mutation_p.L521V|HLCS_uc002yvs.3_Missense_Mutation_p.L521V	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	521					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGAGTAGAAAGAGCACATCCC	0.572													4	75					0	0	1	0	0	C	38137432	G	C	38137432	3	2	33	1	0	0	0	0	1	0	0	0	7213	942	33	4	635	4	HLCS	21	38137432	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		38137432	9992463	24	744											
DSCAM	1826	broad.mit.edu	37	chr21	41539194	41539194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atataggctccaggtgaactTcctgaggtggaccatcagga	12	9	1	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:41539194T>C	uc002yyq.1	-	15	3421	c.2969A>G	c.(2968-2970)gAa>gGa	p.E990G	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	990	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGTGAACTTCCTGAGGTGG	0.532													3	100					0	0	1	0	0	C	41539194	T	C	41539194	3	2	33	1	0	0	0	0	1	0	0	0	4768	1783	62	3	3141	3	DSCAM	21	41539194	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	3401762	41539194	6590701	25	745											
MID2	11043	broad.mit.edu	37	chrX	107148766	107148766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgccagtgtcttgaacGgtcaacagtcctcatcaacc	8	14	4	1			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:107148766G>A	uc004enl.3	+	4	1556	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MID2_uc004enk.3_Missense_Mutation_p.R328Q	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	328						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTCTTGAACGGTCAACAGTC	0.403													9	115					0	0	1	0	0	A	107148766	G	A	107148766	3	1	33	1	0	0	0	0	1	0	0	0	9578	1116	39	1	1001	1	MID2	23	107148766	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		107148766	48121794	26	746											
BGN	633	broad.mit.edu	37	chrX	152772037	152772037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctttgaacctggagccttcGatggcctgaagctcaactac	10	12	1	2			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:152772037G>A	uc004fhr.2	+	4	852	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	206						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCCTTCGATGGCCTGAA	0.612													12	63					0	0	1	0	0	A	152772037	G	A	152772037	3	1	33	1	0	0	0	0	1	0	0	0	1418	1058	37	1	630	1	BGN	23	152772037	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	45623271	152772037	2498523	27	747											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			32	108					0	0	1	0	0	C	533874	T	C	533874	3	2	34	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BJ-A45D-01A-11D-A23U-08		533874	134472642	1	748											
SRP68	6730	broad.mit.edu	37	chr17	74039961	74039961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatttacttcatttgcataTttcaggactctgtcatacag	6	8	4	0			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr17:74039961T>C	uc002jqk.1	-	12	1508	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	SRP68_uc010wsu.1_Silent_p.K390K|SRP68_uc002jql.1_Silent_p.K453K|SRP68_uc002jqj.1_Silent_p.K152K	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	491					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CATTTGCATATTTCAGGACTC	0.488													12	28					0	0	1	0	0	C	74039961	T	C	74039961	2	2	34	1	0	0	0	0	0	0	0	1	15155	1490	52	3		3	SRP68	17	74039961	Silent	SNP	T	TCGA-BJ-A45D-01A-11D-A23U-08		74039961	7155249	2	749											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378013	55378013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcaggaggtgacgtacGcacagttggatcactgcgtt	12	11	2	1			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr19:55378013G>A	uc002qhl.4	+	8	1258	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	KIR3DL2_uc002qho.4_Missense_Mutation_p.A399T|KIR3DL2_uc010esh.3_Missense_Mutation_p.A382T			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	399					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.Y398N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGTGACGTACGCACAGTTGGA	0.502													12	246					0	0	1	0	0	A	55378013	G	A	55378013	3	1	34	1	0	0	0	0	1	0	0	0	8321	1087	38	1	1229	1	KIR3DL2	19	55378013	Missense_Mutation	SNP	G	TCGA-BJ-A45D-01A-11D-A23U-08		55378013	3750970	3	750											
OPRL1	4987	broad.mit.edu	37	chr20	62730072	62730072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcgccgggacgtgcagGtgtctgaccgcgtgcgcagc	16	15	1	1			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr20:62730072G>A	uc002yic.3	+	4	1452	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	OPRL1_uc002yid.3_Missense_Mutation_p.V345M|OPRL1_uc021wgs.1_Missense_Mutation_p.V345M|OPRL1_uc002yif.4_Missense_Mutation_p.V340M	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	345					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGACGTGCAGGTGTCTGACCG	0.637													23	55					0	0	1	0	0	A	62730072	G	A	62730072	3	1	34	1	0	0	0	0	1	0	0	0	10886	1261	44	2	1043	2	OPRL1	20	62730072	Missense_Mutation	SNP	G	TCGA-BJ-A45D-01A-11D-A23U-08		62730072	295448	4	751											
VCPIP1	80124	broad.mit.edu	37	chr8	67579177	67579177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaacggaggcggcggcGgcggcggctgagacatagct	20	11	0	1			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	d6d2a21b-6095-4ec9-8254-e5d2564aad50	g.chr8:67579177G>A	uc003xwn.3	-	0	276	c.17C>T	c.(16-18)cCg>cTg	p.P6L	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	6	Pro-rich.				protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			aggcggcggcggcggcggcTG	0.697													12	17					0	0	1	0	0	A	67579177	G	A	67579177	3	1	35	1	0	0	0	0	1	0	0	0	17138	1116	39	1	3663	1	VCPIP1	8	67579177	Missense_Mutation	SNP	G	TCGA-BJ-A45E-01A-11D-A23U-08		67579177	78784845	1	752											
RBP3	5949	broad.mit.edu	37	chr10	48390034	48390034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccagggacctggacaCgggcaccgtgaagaagaagt	16	11	0	3			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr10:48390034C>T	uc001jez.3	-	0	958	c.844G>A	c.(844-846)Gtg>Atg	p.V282M		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	282	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GACCTGGACACGGGCACCGTG	0.697													4	46					0	0	1	0	0	T	48390034	C	T	48390034	3	4	35	1	0	0	0	0	1	0	0	0	13157	536	19	1	2915	1	RBP3	10	48390034	Missense_Mutation	SNP	C	TCGA-BJ-A45E-01A-11D-A23U-08		48390034	87144713	2	753											
ITGB7	3695	broad.mit.edu	37	chr12	53586181	53586181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccaagaagaagaacagCtggttgtccagggtccgctc	11	12	0	3			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr12:53586181C>T	uc009zmv.3	-	12	2159	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	ITGB7_uc001scc.3_Silent_p.Q696Q|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	696					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAAGAACAGCTGGTTGTCCA	0.567													13	81					0	0	1	0	0	T	53586181	C	T	53586181	2	4	35	1	0	0	0	0	0	0	0	1	7900	796	28	2		2	ITGB7	12	53586181	Silent	SNP	C	TCGA-BJ-A45E-01A-11D-A23U-08		53586181	80265714	3	754											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			31	46					0	0	1	0	0	C	115256529	T	C	115256529	3	2	36	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		115256529	133994092	1	755											
EEF1A1	1915	broad.mit.edu	37	chr6	74228523	74228523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagcagcgtggttccacTggcattgccatccttacggg	11	13	1	0			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr6:74228523T>C	uc003phi.3	-	3	1662	c.670A>G	c.(670-672)Agt>Ggt	p.S224G	EEF1A1_uc003phj.3_Missense_Mutation_p.S224G|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	224						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGGTTCCACTGGCATTGCCA	0.517											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	24					0	0	1	0	0	C	74228523	T	C	74228523	3	2	36	1	0	0	0	0	1	0	0	0	4923	1580	55	3	734	3	EEF1A1	6	74228523	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		74228523	96886544	2	756											
ZMIZ2	83637	broad.mit.edu	37	chr7	44801338	44801338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctaccaccacgaggaccGgcagatgaacaccaactggc	11	14	0	2			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr7:44801338G>A	uc003tlr.3	+	10	1553	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	ZMIZ2_uc003tlq.3_Missense_Mutation_p.R419Q|ZMIZ2_uc003tls.3_Missense_Mutation_p.R451Q|ZMIZ2_uc003tlt.3_Missense_Mutation_p.R100Q|ZMIZ2_uc010kyj.3_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	477	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACGAGGACCGGCAGATGAAC	0.612													16	17					0	0	1	0	0	A	44801338	G	A	44801338	3	1	36	1	0	0	0	0	1	0	0	0	17694	1116	39	1	1468	1	ZMIZ2	7	44801338	Missense_Mutation	SNP	G	TCGA-BJ-A45F-01A-12D-A23U-08		44801338	114337325	3	757											
CACNA2D1	781	broad.mit.edu	37	chr7	81596976	81596977	+	Frame_Shift_Del	DEL	AC	AC	-													ttacatcaattttaattccaAcaactgaaaaattaatttga							TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr7:81596976_81596977delAC	uc003uhr.1	-	29	2654_2655	c.2398_2399delGT	c.(2398-2400)gttfs	p.V800fs	CACNA2D1_uc011kgy.1_Frame_Shift_Del_p.V12fs	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	812						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTAATTCCAACAACTGAAAAA	0.262													2	4	---	---	---	---						-	81596977	AC	-	81596976	7	5	36	1	0	1	0	1	0	0	0	0	2548	43	2	0	916	0	CACNA2D1	7	81596976	Frame_Shift_Del	DEL	AC	TCGA-BJ-A45F-01A-12D-A23U-08	36795638	81596976	77541687	4	758											
TG	7038	broad.mit.edu	37	chr8	133919035	133919035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccatgcagcagtgccAattgctgtgccgccagggct	12	14	1	0			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr8:133919035A>C	uc003ytw.3	+	16	3778	c.3737A>C	c.(3736-3738)cAa>cCa	p.Q1246P	TG_uc010mdw.3_Missense_Mutation_p.Q5P	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1246					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCAGTGCCAATTGCTGTGC	0.632													10	28					0	0	1	0	0	C	133919035	A	C	133919035	3	2	36	1	0	0	0	0	1	0	0	0	15810	130	5	5	3803	5	TG	8	133919035	Missense_Mutation	SNP	A	TCGA-BJ-A45F-01A-12D-A23U-08		133919035	12444987	5	759											
GRAMD2	196996	broad.mit.edu	37	chr15	72454662	72454662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggagcataactgctgcTctagccgagaaatacggaac	10	10	2	1			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr15:72454662T>C	uc002atq.3	-	10	1037	c.1013A>G	c.(1012-1014)gAg>gGg	p.E338G	GRAMD2_uc010bis.2_Missense_Mutation_p.E338G|GRAMD2_uc010ukh.2_Missense_Mutation_p.E132G	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	338						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TAACTGCTGCTCTAGCCGAGA	0.488													11	33					0	0	1	0	0	C	72454662	T	C	72454662	3	2	36	1	0	0	0	0	1	0	0	0	6750	1551	54	3	59	3	GRAMD2	15	72454662	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		72454662	30076730	6	760											
FUT3	2525	broad.mit.edu	37	chr19	5844400	5844400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggtgagattgaagtatcTgtccagggcttccaggtgct	13	8	1	2	rs417341	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr19:5844400T>C	uc002mdk.2	-	1	548	c.451A>G	c.(451-453)Aga>Gga	p.R151G	FUT3_uc002mdm.2_Missense_Mutation_p.R151G|FUT3_uc002mdj.2_Missense_Mutation_p.R151G|FUT3_uc002mdl.2_Missense_Mutation_p.R151G|FUT3_uc021unn.1_Missense_Mutation_p.R151G	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	151					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTGAAGTATCTGTCCAGGGCT	0.642													14	56					0	0	1	0	0	C	5844400	T	C	5844400	3	2	36	1	0	0	0	0	1	0	0	0	6105	1588	55	3	638	3	FUT3	19	5844400	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		5844400	53284583	7	761											
CCDC105	126402	broad.mit.edu	37	chr19	15132292	15132292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagcgaccgtgtgtgtgcCtcgctggcgcagaaggcgag	16	10	0	1			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr19:15132292C>T	uc002nae.2	+	3	1101	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	334					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTGTGTGTGCCTCGCTGGCGC	0.622													3	30					0	0	1	0	0	T	15132292	C	T	15132292	2	4	36	1	0	0	0	0	0	0	0	1	2740	668	24	2		2	CCDC105	19	15132292	Silent	SNP	C	TCGA-BJ-A45F-01A-12D-A23U-08	9287892	15132292	43996691	8	762											
CD93	22918	broad.mit.edu	37	chr20	23065236	23065236	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgggggccagcatcttgaGtggggcagatgtgatggggg	20	6	1	3			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr20:23065236G>C	uc002wsv.3	-	0	1742	c.1594C>G	c.(1594-1596)Ctc>Gtc	p.L532V		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	532					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCATCTTGAGTGGGGCAGAT	0.662													21	59					0	0	1	0	0	C	23065236	G	C	23065236	3	2	36	1	0	0	0	0	1	0	0	0	3047	1029	36	4	372	4	CD93	20	23065236	Missense_Mutation	SNP	G	TCGA-BJ-A45F-01A-12D-A23U-08		23065236	39960284	9	763											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			52	62					0	0	1	0	0	C	115256529	T	C	115256529	3	2	37	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		115256529	133994092	1	764											
NPR1	4881	broad.mit.edu	37	chr1	153660685	153660685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatccgcctgacgttgcGcaaatttaacaggtccctgg	11	12	0	2	rs148747309		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr1:153660685G>A	uc001fcs.4	+	14	2826	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	NPR1_uc010pdz.2_Missense_Mutation_p.R548H|NPR1_uc010pea.2_Missense_Mutation_p.R280H	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	802	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGACGTTGCGCAAATTTAAC	0.582													5	36					0	0	1	0	0	A	153660685	G	A	153660685	3	1	37	1	0	0	0	0	1	0	0	0	10594	1087	38	1	2463	1	NPR1	1	153660685	Missense_Mutation	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08	38404156	153660685	95589936	2	765											
IGFBP7	3490	broad.mit.edu	37	chr4	57898634	57898634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggcatcaaccactgtaaTttttgctgatgctgaagcct	8	9	1	2			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr4:57898634T>C	uc003hcn.3	-	3	821	c.787A>G	c.(787-789)Att>Gtt	p.I263V	IGFBP7_uc011cag.2_Missense_Mutation_p.I263V	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	263	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCACTGTAATTTTTGCTGAT	0.368													6	35					0	0	1	0	0	C	57898634	T	C	57898634	3	2	37	1	0	0	0	0	1	0	0	0	7584	1493	52	3	69	3	IGFBP7	4	57898634	Missense_Mutation	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		57898634	133255642	3	766											
MMAA	166785	broad.mit.edu	37	chr4	146560393	146560393	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcactcaagtactcatctCggatcaggaatcccatgtgc	7	12	5	0	rs146372922	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr4:146560393C>T	uc003ikh.4	+	1	187	c.102C>T	c.(100-102)ctC>ctT	p.L34L	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	34						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.L34V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTACTCATCTCGGATCAGGAA	0.443													46	78					0	0	1	0	0	T	146560393	C	T	146560393	2	4	37	1	0	0	0	0	0	0	0	1	9639	871	31	1		1	MMAA	4	146560393	Silent	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08	88661759	146560393	44593883	4	767											
FAM111A	63901	broad.mit.edu	37	chr11	58920619	58920619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgatccctcagggtcagcGagcaaagaaatgtcaggaac	12	9	3	2			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr11:58920619G>A	uc010rkp.2	+	4	1705	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	FAM111A_uc010rkq.2_Missense_Mutation_p.R493Q|FAM111A_uc010rkr.2_Missense_Mutation_p.R493Q|FAM111A_uc001nno.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnp.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnq.3_Missense_Mutation_p.R493Q	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	493					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGGGTCAGCGAGCAAAGAAA	0.403													7	89					0	0	1	0	0	A	58920619	G	A	58920619	3	1	37	1	0	0	0	0	1	0	0	0	5399	1058	37	1	1484	1	FAM111A	11	58920619	Missense_Mutation	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08		58920619	76085897	5	768											
RNASE1	6035	broad.mit.edu	37	chr14	21270003	21270003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctaccaggggctcgtgCacaaaggtgttcactggttt	11	10	2	0			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr14:21270003C>T	uc001vyf.3	-	1	401	c.225G>A	c.(223-225)gtG>gtA	p.V75V	RNASE1_uc001vyg.3_Silent_p.V75V|RNASE1_uc001vyh.3_Silent_p.V75V|RNASE1_uc001vyi.3_Silent_p.V75V|RNASE1_uc021rop.1_Silent_p.V75V	NM_198232	NP_937878	P07998	RNAS1_HUMAN	Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 3, mRNA.	75						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		GGGGCTCGTGCACAAAGGTGT	0.542													5	73					0	0	1	0	0	T	21270003	C	T	21270003	2	4	37	1	0	0	0	0	0	0	0	1	13399	697	25	2		2	RNASE1	14	21270003	Silent	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08		21270003	86079537	6	769											
ACAN	176	broad.mit.edu	37	chr15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataccccattgtgagccccCggaccccatgcgtgggtgac	12	15	0	2	rs143697605	by1000genomes	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr15:89391161C>T	uc010upo.1	+	8	1998	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	542					cell adhesion		hyaluronic acid binding|sugar binding	p.R542W(2)|p.P541P(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGAGCCCCCGGACCCCATG	0.607													4	56					0	0	1	0	0	T	89391161	C	T	89391161	3	4	37	1	0	0	0	0	1	0	0	0	117	643	23	1	1654	1	ACAN	15	89391161	Missense_Mutation	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08		89391161	13140231	7	770											
MED13	9969	broad.mit.edu	37	chr17	60142516	60142516	+	Frame_Shift_Del	DEL	A	A	-													ctcaccaggcagaagaggttAcagtgacaatcttccaggct							TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr17:60142516delA	uc002izo.3	-	0	128	c.51delT	c.(49-51)tgtfs	p.C17fs		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	17					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGGTTACAGTGACAAT	0.716													2	4	---	---	---	---						-	60142516	A	-	60142516	7	5	37	1	0	1	0	1	0	0	0	0	9430	389	14	0	6593	0	MED13	17	60142516	Frame_Shift_Del	DEL	A	TCGA-BJ-A45G-01A-11D-A23U-08		60142516	21052694	8	771											
TRMT1	55621	broad.mit.edu	37	chr19	13220604	13220604	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcgttgcccacagtgTtcacactcgggggtcacagg	14	11	2	0			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr19:13220604T>C	uc002mwj.2	-	8	1405	c.1155A>G	c.(1153-1155)gaA>gaG	p.E385E	TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Silent_p.E356E|TRMT1_uc002mwl.3_Silent_p.E385E|TRMT1_uc010xmz.1_Silent_p.E171E	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	385							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCCCACAGTGTTCACACTCGG	0.627													10	26					0	0	1	0	0	C	13220604	T	C	13220604	2	2	37	1	0	0	0	0	0	0	0	1	16558	1722	60	3		3	TRMT1	19	13220604	Silent	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		13220604	45908379	9	772											
B3GNT3	10331	broad.mit.edu	37	chr19	17922809	17922809	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcaacgcctgtcctcctttGacccctgcttctaccgagac	7	18	1	2			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr19:17922809G>T	uc002nhl.1	+	2	1144	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	B3GNT3_uc010ebd.1_Missense_Mutation_p.D333Y|B3GNT3_uc010ebe.1_Missense_Mutation_p.D333Y	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	333					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GTCCTCCTTTGACCCCTGCTT	0.622													13	114					0	0	1	0	0	T	17922809	G	T	17922809	3	4	37	1	0	0	0	0	1	0	0	0	1258	1290	45	4	1003	4	B3GNT3	19	17922809	Missense_Mutation	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08	4702205	17922809	41206174	10	773											
LRCH2	57631	broad.mit.edu	37	chrX	114414309	114414309	+	Frame_Shift_Del	DEL	A	A	-													acttgaatctcattgcagctAatatcctaaggagaacaata							TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chrX:114414309delA	uc010nqe.3	-	3	658	c.627delT	c.(625-627)attfs	p.I209fs	LRCH2_uc004epz.3_Frame_Shift_Del_p.I209fs	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	209										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CATTGCAGCTAATATCCTAAG	0.279													2	4	---	---	---	---						-	114414309	A	-	114414309	7	5	37	1	0	1	0	1	0	0	0	0	8933	358	13	0	1742	0	LRCH2	23	114414309	Frame_Shift_Del	DEL	A	TCGA-BJ-A45G-01A-11D-A23U-08		114414309	40856251	11	774											
LRRC8B	23507	broad.mit.edu	37	chr1	90049454	90049454	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaactgaaaagtaagcttgtGaaaaatgcccaggacaagat	9	6	0	3			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr1:90049454G>A	uc001dni.3	+	6	1752	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	LRRC8B_uc001dnh.3_Silent_p.V415V|LRRC8B_uc001dnj.3_Silent_p.V415V	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	415						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GTAAGCTTGTGAAAAATGCCC	0.403													4	54					0	0	1	0	0	A	90049454	G	A	90049454	2	1	38	1	0	0	0	0	0	0	0	1	9022	1277	45	2		2	LRRC8B	1	90049454	Silent	SNP	G	TCGA-BJ-A45I-01A-11D-A23U-08		90049454	159201167	1	775											
ANK2	287	broad.mit.edu	37	chr4	114163300	114163300	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcatgtggcttccaaaAgaggaaatacaaacatggtg	10	8	1	1			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr4:114163300A>C	uc003ibe.4	+	8	926	c.826A>C	c.(826-828)Aga>Cga	p.R276R	ANK2_uc003ibd.4_Silent_p.R255R|ANK2_uc003ibf.4_Silent_p.R276R|ANK2_uc003ibc.2_Silent_p.R252R|ANK2_uc011cgb.1_Silent_p.R291R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	276					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R276T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGCTTCCAAAAGAGGAAATAC	0.453													14	31					0	0	1	0	0	C	114163300	A	C	114163300	2	2	38	1	0	0	0	0	0	0	0	1	621	64	3	5		5	ANK2	4	114163300	Silent	SNP	A	TCGA-BJ-A45I-01A-11D-A23U-08		114163300	76990976	2	776											
PRMT10	90826	broad.mit.edu	37	chr4	148579090	148579090	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttaataacaggaataccaaTcttatcaggctttttagttg	6	6	2	0			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr4:148579090T>A	uc003ilc.3	-	7	1325	c.1183A>T	c.(1183-1185)Att>Ttt	p.I395F	PRMT10_uc003ilb.3_Missense_Mutation_p.I39F|PRMT10_uc003ild.3_Missense_Mutation_p.I282F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	395						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GGAATACCAATCTTATCAGGC	0.333													3	19					0	0	1	0	0	A	148579090	T	A	148579090	3	1	38	1	0	0	0	0	1	0	0	0	12536	1435	50	5	1374	5	PRMT10	4	148579090	Missense_Mutation	SNP	T	TCGA-BJ-A45I-01A-11D-A23U-08	34415790	148579090	42575186	3	777											
MAML1	9794	broad.mit.edu	37	chr5	179192842	179192842	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaatgaggacttcgaggaGaagaaggacccagagtcttc	12	7	1	4			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr5:179192842G>A	uc003mkm.3	+	1	1094	c.831G>A	c.(829-831)gaG>gaA	p.E277E	MAML1_uc003mkn.1_Silent_p.E277E	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	277					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTTCGAGGAGAAGAAGGACC	0.507													5	60					0	0	1	0	0	A	179192842	G	A	179192842	2	1	38	1	0	0	0	0	0	0	0	1	9205	933	33	2		2	MAML1	5	179192842	Silent	SNP	G	TCGA-BJ-A45I-01A-11D-A23U-08		179192842	1722418	4	778											
LRGUK	136332	broad.mit.edu	37	chr7	133868563	133868563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgggaaacgagagcttgCccatcgcctctgcagacagt	12	11	1	2			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr7:133868563C>T	uc003vrm.1	+	10	1308	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	431	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CGAGAGCTTGCCCATCGCCTC	0.468													6	103					0	0	1	0	0	T	133868563	C	T	133868563	3	4	38	1	0	0	0	0	1	0	0	0	8943	739	26	2	1334	2	LRGUK	7	133868563	Missense_Mutation	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		133868563	25270100	5	779											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				7	36					0	0	1	0	0	T	140453136	A	T	140453136	3	4	38	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A45I-01A-11D-A23U-08	6584573	140453136	18685527	6	780											
CHRNA2	1135	broad.mit.edu	37	chr8	27324815	27324815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagagatgtgatgttgccaAaatcagtggggttccagcgc	14	7	1	3			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr8:27324815A>G	uc010lur.3	-	4	989	c.380T>C	c.(379-381)tTt>tCt	p.F127S	CHRNA2_uc011lal.2_Missense_Mutation_p.F112S|CHRNA2_uc010lus.3_5'UTR	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	127						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GATGTTGCCAAAATCAGTGGG	0.542													3	29					0	0	1	0	0	G	27324815	A	G	27324815	3	3	38	1	0	0	0	0	1	0	0	0	3383	14	1	3	1221	3	CHRNA2	8	27324815	Missense_Mutation	SNP	A	TCGA-BJ-A45I-01A-11D-A23U-08		27324815	119039207	7	781											
SUFU	51684	broad.mit.edu	37	chr10	104309838	104309838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagagttaatgcagggCttggcacgatacgtgttcca	12	11	0	1			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr10:104309838C>T	uc001kvy.2	+	2	620	c.429C>T	c.(427-429)ggC>ggT	p.G143G	SUFU_uc001kvw.2_Silent_p.G143G|SUFU_uc001kvx.3_Silent_p.G143G	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	143					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TAATGCAGGGCTTGGCACGAT	0.537			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				4	41					0	0	1	0	0	T	104309838	C	T	104309838	2	4	38	1	0	0	0	0	0	0	0	1	15367	784	28	2		2	SUFU	10	104309838	Silent	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		104309838	31224909	8	782											
C11orf58	10944	broad.mit.edu	37	chr11	16760369	16760369	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccgcatggggtgaagcgttCagcctccccagacgacgatg	13	14	1	2			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr11:16760369C>T	uc001mmk.2	+	0	222	c.44C>T	c.(43-45)tCa>tTa	p.S15L	SOX6_uc001mmh.1_5'Flank	NM_014267	NP_055082	O00193	SMAP_HUMAN	Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA.	15										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						GTGAAGCGTTCAGCCTCCCCA	0.597													3	35					0	0	1	0	0	T	16760369	C	T	16760369	3	4	38	1	0	0	0	0	1	0	0	0	1651	838	29	2	46	2	C11orf58	11	16760369	Missense_Mutation	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		16760369	118246147	9	783											
CDH4	1002	broad.mit.edu	37	chr20	60511927	60511927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttccggggaccaagacTacgattacctcaacgactgg	10	13	1	1			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr20:60511927T>C	uc002ybn.2	+	15	2765	c.2677T>C	c.(2677-2679)Tac>Cac	p.Y893H	CDH4_uc002ybr.2_Missense_Mutation_p.Y856H|CDH4_uc002ybp.2_Missense_Mutation_p.Y819H	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	893					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGACCAAGACTACGATTACCT	0.587													3	26					0	0	1	0	0	C	60511927	T	C	60511927	3	2	38	1	0	0	0	0	1	0	0	0	3112	1522	53	3	2739	3	CDH4	20	60511927	Missense_Mutation	SNP	T	TCGA-BJ-A45I-01A-11D-A23U-08		60511927	2513593	10	784											
SPTA1	6708	broad.mit.edu	37	chr1	158618337	158618337	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtccctttcaaagccctCatgccgtcgctgaagagcct	10	14	2	2			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr1:158618337C>T	uc001fst.1	-	25	3875	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1226					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAAAGCCCTCATGCCGTCGC	0.498													8	75					0	0	1	0	0	T	158618337	C	T	158618337	3	4	39	1	0	0	0	0	1	0	0	0	15115	835	29	2	3691	2	SPTA1	1	158618337	Missense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08		158618337	90632284	1	785											
CAPN9	10753	broad.mit.edu	37	chr1	230898481	230898481	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgcttggttttcctccactCtgccgaccacaacgagttct	7	16	2	0			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr1:230898481C>T	uc001htz.1	+	3	598	c.485C>T	c.(484-486)tCt>tTt	p.S162F	CAPN9_uc009xfg.1_Missense_Mutation_p.S99F|CAPN9_uc001hua.1_Missense_Mutation_p.S162F	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	162	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TTCCTCCACTCTGCCGACCAC	0.587													4	29					0	0	1	0	0	T	230898481	C	T	230898481	3	4	39	1	0	0	0	0	1	0	0	0	2632	913	32	2	499	2	CAPN9	1	230898481	Missense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08	72280144	230898481	18352140	2	786											
SRBD1	55133	broad.mit.edu	37	chr2	45801777	45801777	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatactcacaagttccgaatGaagtcaagcgtgtctttgtc	9	9	3	1			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr2:45801777G>A	uc002rus.3	-	7	1234	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	386					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTTCCGAATGAAGTCAAGCG	0.388													4	60					0	0	1	0	0	A	45801777	G	A	45801777	2	1	39	1	0	0	0	0	0	0	0	1	15132	1281	45	2		2	SRBD1	2	45801777	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		45801777	197397596	3	787											
USP34	9736	broad.mit.edu	37	chr2	61438933	61438933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtagtccagcaggagcgGccatctaagcaacgtaagta	11	9	1	0			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr2:61438933G>A	uc002sbe.3	-	68	8836	c.8814C>T	c.(8812-8814)ggC>ggT	p.G2938G		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2938					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGCAGGAGCGGCCATCTAAGC	0.343													3	21					0	0	1	0	0	A	61438933	G	A	61438933	2	1	39	1	0	0	0	0	0	0	0	1	17062	1190	42	2		2	USP34	2	61438933	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	15637156	61438933	181760440	4	788											
LPP	4026	broad.mit.edu	37	chr3	188426115	188426115	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcattccgcccagaggatGagcttgagcacctgaccaaa	9	13	1	4			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr3:188426115G>C	uc003frs.2	+	6	1420	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	LPP_uc011bsg.2_Missense_Mutation_p.E245Q|LPP_uc011bsi.2_Missense_Mutation_p.E392Q|LPP_uc003frt.3_Missense_Mutation_p.E392Q|LPP_uc011bsj.2_Missense_Mutation_p.E229Q	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	392					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCCAGAGGATGAGCTTGAGCA	0.512			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								8	67					0	0	1	0	0	C	188426115	G	C	188426115	3	2	39	1	0	0	0	0	1	0	0	0	8923	1291	45	4	1192	4	LPP	3	188426115	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		188426115	9596315	5	789											
ULBP1	80329	broad.mit.edu	37	chr6	150290338	150290338	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctctttgactcaaacaacaGaaagtggacagcacttcatc	6	12	3	2			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr6:150290338G>A	uc003qnp.3	+	2	510	c.467G>A	c.(466-468)aGa>aAa	p.R156K		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	156	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|endoplasmic reticulum	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCAAACAACAGAAAGTGGACA	0.493													5	65					0	0	1	0	0	A	150290338	G	A	150290338	3	1	39	1	0	0	0	0	1	0	0	0	16969	942	33	2	477	2	ULBP1	6	150290338	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		150290338	20824729	6	790											
MET	4233	broad.mit.edu	37	chr7	116436137	116436137	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaagataacgctgatgatGaggtggacacacgaccagcc	12	10	0	5			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr7:116436137G>C	uc010lkh.3	+	20	4373	c.4186G>C	c.(4186-4188)Gag>Cag	p.E1396Q	MET_uc003vij.3_Missense_Mutation_p.E1378Q|MET_uc011knj.2_Missense_Mutation_p.E948Q	NM_001127500	NP_001120972	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 1, mRNA.	1378					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGCTGATGATGAGGTGGACAC	0.463			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				11	133					0	0	1	0	0	C	116436137	G	C	116436137	3	2	39	1	0	0	0	0	1	0	0	0	9485	1291	45	4	4264	4	MET	7	116436137	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		116436137	42702526	7	791											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	41					0	0	1	0	0	T	140453136	A	T	140453136	3	4	39	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A45J-01A-11D-A23U-08	24016999	140453136	18685527	8	792											
GLE1	2733	broad.mit.edu	37	chr9	131296128	131296128	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatctgggagctccaccccaGagtgggggacctcattcttg	13	12	3	1			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr9:131296128G>C	uc004bvj.3	+	10	1658	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	GLE1_uc004bvi.3_Missense_Mutation_p.R515T|GLE1_uc010myd.3_Missense_Mutation_p.R261T	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.	515					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CTCCACCCCAGAGTGGGGGAC	0.507													7	90					0	0	1	0	0	C	131296128	G	C	131296128	3	2	39	1	0	0	0	0	1	0	0	0	6435	942	33	4	1586	4	GLE1	9	131296128	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		131296128	9917303	9	793											
C9orf172	389813	broad.mit.edu	37	chr9	139740266	139740266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccgttgggccgcggccGcagctacgagaacctgctgg	15	14	0	2			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	85f7f6d9-9498-409c-99fc-d0853b075689	g.chr9:139740266G>A	uc011meh.2	+	0	1400	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	467										endometrium(2)|large_intestine(1)|lung(6)	9						GGCCGCGGCCGCAGCTACGAG	0.746													2	1					0	0	1	0	0	A	139740266	G	A	139740266	3	1	39	1	0	0	0	0	1	0	0	0	2471	1087	38	1	1402	1	C9orf172	9	139740266	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	8444138	139740266	1473165	10	794											
CHRNA10	57053	broad.mit.edu	37	chr11	3687763	3687763	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgagtgctgttgagaatgtGaccatggtcatagtggccat	14	6	1	3			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr11:3687763G>A	uc001lyf.3	-	4	999	c.927C>T	c.(925-927)gtC>gtT	p.V309V	CHRNA10_uc010qxt.2_Silent_p.V103V|CHRNA10_uc010qxu.2_Silent_p.V103V	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	309					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TTGAGAATGTGACCATGGTCA	0.537													3	28					0	0	1	0	0	A	3687763	G	A	3687763	2	1	39	1	0	0	0	0	0	0	0	1	3382	1277	45	2		2	CHRNA10	11	3687763	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		3687763	131318753	11	795											
OR5M10	390167	broad.mit.edu	37	chr11	56344739	56344739	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgagagagcccattaagGaagccatacatgtaaggcac	11	9	1	2			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr11:56344739G>A	uc001niz.1	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCCCATTAAGGAAGCCATACA	0.458													4	70					0	0	1	0	0	A	56344739	G	A	56344739	2	1	39	1	0	0	0	0	0	0	0	1	11173	1165	41	2		2	OR5M10	11	56344739	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	52656976	56344739	78661777	12	796											
CYP1A2	1544	broad.mit.edu	37	chr15	75042337	75042337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggctccacgcccgtgctGgtgctgagccgcctggacac	13	15	0	1			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr15:75042337G>A	uc002ayr.1	+	1	322	c.258G>A	c.(256-258)ctG>ctA	p.L86L		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	86					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CGCCCGTGCTGGTGCTGAGCC	0.652													5	55					0	0	1	0	0	A	75042337	G	A	75042337	2	1	39	1	0	0	0	0	0	0	0	1	4150	1335	47	2		2	CYP1A2	15	75042337	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		75042337	27489055	13	797											
PDF	64146	broad.mit.edu	37	chr16	69364026	69364028	+	In_Frame_Del	DEL	GGG	GGG	-													ggggttcacgaacacgcgcaGggggaagggctccatttggc							TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr16:69364026_69364028delGGG	uc002ewx.1	-	0	471_473	c.446_448delCCC	c.(445-450)cccctg>ctg	p.P149del	COG8_uc002ewy.2_Intron	NM_022341	NP_071736	Q9HBH1	DEFM_HUMAN	Homo sapiens peptide deformylase (mitochondrial) (PDF), nuclear gene encoding mitochondrial protein, mRNA.	149					N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity	p.F148F(1)		NS(1)|prostate(1)	2						AACACGCGCAGGGGGAAGGGCTC	0.734													3	4	---	---	---	---						-	69364028	GGG	-	69364026	7	5	39	1	0	1	0	1	0	0	0	0	11656	991	35	0	291	0	PDF	16	69364026	In_Frame_Del	DEL	GGG	TCGA-BJ-A45J-01A-11D-A23U-08		69364026	20990727	14	798											
EFTUD2	9343	broad.mit.edu	37	chr17	42941049	42941049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcacagtcactcatagcctCgccgaggtcggagtccacac	10	15	3	0			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr17:42941049C>T	uc002ihn.2	-	14	1648	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	EFTUD2_uc010wje.1_Missense_Mutation_p.E428K|EFTUD2_uc010wjf.1_Missense_Mutation_p.E453K	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	463						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTCATAGCCTCGCCGAGGTCG	0.552													5	57					0	0	1	0	0	T	42941049	C	T	42941049	3	4	39	1	0	0	0	0	1	0	0	0	4961	893	31	1	1587	1	EFTUD2	17	42941049	Missense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08		42941049	38254161	15	799											
BTBD2	55643	broad.mit.edu	37	chr19	1987243	1987243	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accacgaagatgcgcttgttGactgagaacctgccgtggca	12	11	0	3			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr19:1987243G>A	uc002lup.1	-	6	1191	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	BTBD2_uc002luo.1_Silent_p.V76V	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	397						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGCTTGTTGACTGAGAACC	0.617													4	28					0	0	1	0	0	A	1987243	G	A	1987243	2	1	39	1	0	0	0	0	0	0	0	1	1543	1277	45	2		2	BTBD2	19	1987243	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		1987243	57141740	16	800											
SCN1A	6323	broad.mit.edu	37	chr2	166866283	166866283	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtctcagagctcttagtgtCctgagagatttgatggctcc	12	9	2	4	rs149579028	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr2:166866283C>T	uc002udo.4	-	21	4175	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	SCN1A_uc010fpk.3_Silent_p.R1288R|SCN1A_uc021vsb.1_Silent_p.R1305R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1316						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1305R(1)|p.R1316R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTCTTAGTGTCCTGAGAGATT	0.368													16	12					0	0	1	0	0	T	166866283	C	T	166866283	2	4	40	1	0	0	0	0	0	0	0	1	13914	854	30	2		2	SCN1A	2	166866283	Silent	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		166866283	76333090	1	801											
SPON2	10417	broad.mit.edu	37	chr4	1165200	1165200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcccaggcctcgccgcgctCcgcaaagtcgcgcagcccgt	12	20	0	0			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr4:1165200C>T	uc021xkj.1	-	4	920	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPON2_uc003gco.4_Missense_Mutation_p.E99K|SPON2_uc010ibr.3_Missense_Mutation_p.E99K|SPON2_uc003gcm.1_Missense_Mutation_p.E17K	NM_001199021	NP_001185950	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 3, mRNA.	99	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TCGCCGCGCTCCGCAAAGTCG	0.711													12	42					0	0	1	0	0	T	1165200	C	T	1165200	3	4	40	1	0	0	0	0	1	0	0	0	15082	864	30	2	716	2	SPON2	4	1165200	Missense_Mutation	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		1165200	189989076	2	802											
CRH	1392	broad.mit.edu	37	chr8	67089559	67089561	+	In_Frame_Del	DEL	GCG	GCG	-													ctgctggggctgctcggactGcggcggcggctggaagaaat							TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr8:67089559_67089561delGCG	uc003xvy.2	-	1	485_487	c.152_154delCGC	c.(151-156)ccgcag>cag	p.P51del	CRH_uc022avj.1_In_Frame_Del_p.P51del	NM_000756	NP_000747	P06850	CRF_HUMAN	Homo sapiens corticotropin releasing hormone (CRH), mRNA.	51					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCTCGGACTGCGGCGGCGGCTG	0.734											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	67089561	GCG	-	67089559	7	5	40	1	0	1	0	1	0	0	0	0	3869	1328	46	0	440	0	CRH	8	67089559	In_Frame_Del	DEL	GCG	TCGA-BJ-A45K-01A-11D-A23U-08		67089559	79274463	3	803											
GLYATL2	219970	broad.mit.edu	37	chr11	58604779	58604779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcccagctgattacaTtggagtatgacaggacttcc	9	10	0	2			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr11:58604779T>C	uc001nnd.4	-	3	409	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GLYATL2_uc009ymq.3_Missense_Mutation_p.N93S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	93						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCTGATTACATTGGAGTATGA	0.393													25	32					0	0	1	0	0	C	58604779	T	C	58604779	3	2	40	1	0	0	0	0	1	0	0	0	6481	1493	52	3	618	3	GLYATL2	11	58604779	Missense_Mutation	SNP	T	TCGA-BJ-A45K-01A-11D-A23U-08		58604779	76401737	4	804											
CTSH	1512	broad.mit.edu	37	chr15	79220056	79220057	+	Splice_Site	INS	-	-	T													agggggatcggcactcacgaINSttgtgatgttggctacatcc							TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr15:79220056_79220057insT	uc021srk.1	-	9	796	c.699_splice	c.e9+1	p.I233_splice	CTSH_uc010unf.1_Splice_Site	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	233					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GGCACTCACGATTGTGATGTTG	0.535													18	33	---	---	---	---						T	79220057	-	T	79220056	8	5	40	1	0	1	1	0	0	0	1	0	4036	347	12	0	325	0	CTSH	15	79220056	Splice_Site	INS	-	TCGA-BJ-A45K-01A-11D-A23U-08		79220056	23311336	5	805											
SULT1A1	6817	broad.mit.edu	37	chr16	28631452	28631452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttccctggagaatgctcaTacctatttgcaaaaacacca	5	12	1	1			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr16:28631452T>C	uc002dqm.3	-	1	459	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqp.3_5'UTR|SULT1A1_uc002dqn.3_5'UTR	NM_177536	NP_803880	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 5, mRNA.	0					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGAATGCTCATACCTATTTGC	0.333													11	9					0	0	1	0	0	C	28631452	T	C	28631452	3	2	40	1	0	0	0	0	1	0	0	0	15371	1406	49	3	987	3	SULT1A1	16	28631452	Missense_Mutation	SNP	T	TCGA-BJ-A45K-01A-11D-A23U-08		28631452	61723301	6	806											
SDK2	54549	broad.mit.edu	37	chr17	71380017	71380017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaagtgtcactcacagGtaagctcagcccatgtggcc	9	15	3	0			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr17:71380017G>A	uc010dfm.3	-	32	4703	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	SDK2_uc002jjt.4_Missense_Mutation_p.T727I|SDK2_uc010dfn.2_Missense_Mutation_p.T1247I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1568	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCACTCACAGGTAAGCTCAGC	0.607													13	25					0	0	1	0	0	A	71380017	G	A	71380017	3	1	40	1	0	0	0	0	1	0	0	0	13969	1261	44	2	1867	2	SDK2	17	71380017	Missense_Mutation	SNP	G	TCGA-BJ-A45K-01A-11D-A23U-08		71380017	9815193	7	807											
RYR1	6261	broad.mit.edu	37	chr19	38959963	38959963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcttcctgcccgtctgcaGcttgggacctggccaggtgg	15	13	1	0			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr19:38959963G>T	uc002oit.3	+	26	3705	c.3575G>T	c.(3574-3576)aGc>aTc	p.S1192I	RYR1_uc002oiu.3_Missense_Mutation_p.S1192I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1192	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGTCTGCAGCTTGGGACCT	0.647													22	34					0	0	1	0	0	T	38959963	G	T	38959963	3	4	40	1	0	0	0	0	1	0	0	0	13768	971	34	4	3681	4	RYR1	19	38959963	Missense_Mutation	SNP	G	TCGA-BJ-A45K-01A-11D-A23U-08		38959963	20169020	8	808											
FAM116B	414918	broad.mit.edu	37	chr22	50755725	50755725	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggccaagcagcgcaccttCtggaagtagcccctcttcac	10	15	3	0			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr22:50755725C>T	uc011arv.1	-	4	522	c.450G>A	c.(448-450)caG>caA	p.Q150Q		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	150										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCGCACCTTCTGGAAGTAGC	0.637													14	18					0	0	1	0	0	T	50755725	C	T	50755725	2	4	40	1	0	0	0	0	0	0	0	1	5408	912	32	2		2	FAM116B	22	50755725	Silent	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		50755725	548841	9	809											
PDK3	5165	broad.mit.edu	37	chrX	24517018	24517019	+	Splice_Site	INS	-	-	T													atccacaggtcttggataagINStaagtatggtaccacttagc							TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chrX:24517018_24517019insT	uc004dbh.3	+	3	549	c.320_splice	c.e3+1	p.N107_splice	PDK3_uc004dbg.3_Splice_Site_p.N107_splice	NM_001142386	NP_001135858	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	107					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTTGGATAAGTAAGTATGGTA	0.317													3	6	---	---	---	---						T	24517019	-	T	24517018	8	5	40	1	0	1	1	0	0	0	1	0	11677	1043	36	0	331	0	PDK3	23	24517018	Splice_Site	INS	-	TCGA-BJ-A45K-01A-11D-A23U-08		24517018	130753542	10	810											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				21	38					0	0	1	0	0	T	140453136	A	T	140453136	3	4	41	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A4O8-01A-11D-A257-08		140453136	18685527	1	811											
RPL36AL	6166	broad.mit.edu	37	chr14	50085726	50085726	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccttccctgggcatacaAagaatccttgcccttcttat	5	15	1	1			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr14:50085726A>C	uc001wwq.1	-	1	203	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V	NEMF_uc010anj.1_Intron|RPL36AL_uc021rsq.1_Missense_Mutation_p.L33V|MGAT2_uc001wwr.3_5'Flank	NM_001001	NP_000992	Q969Q0	RL36L_HUMAN	Homo sapiens ribosomal protein L36a-like (RPL36AL), mRNA.	33					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					TGGGCATACAAAGAATCCTTG	0.473													38	85					0	0	1	0	0	C	50085726	A	C	50085726	3	2	41	1	0	0	0	0	1	0	0	0	13588	11	1	5	227	5	RPL36AL	14	50085726	Missense_Mutation	SNP	A	TCGA-BJ-A4O8-01A-11D-A257-08		50085726	57263814	2	812											
MCTP2	55784	broad.mit.edu	37	chr15	94841744	94841744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcccagcagtctgtccActgcagggatctttcccaag	11	14	2	0			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr15:94841744A>G	uc002btj.3	+	0	315	c.250A>G	c.(250-252)Act>Gct	p.T84A	MCTP2_uc010urg.1_Missense_Mutation_p.T84A|MCTP2_uc002bti.2_Missense_Mutation_p.T84A|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.T84A|MCTP2_uc002btg.4_Missense_Mutation_p.T84A|MCTP2_uc002bth.4_Missense_Mutation_p.T84A	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	84					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGTCTGTCCACTGCAGGGAT	0.582													8	98					0	0	1	0	0	G	94841744	A	G	94841744	3	3	41	1	0	0	0	0	1	0	0	0	9401	159	6	3	252	3	MCTP2	15	94841744	Missense_Mutation	SNP	A	TCGA-BJ-A4O8-01A-11D-A257-08		94841744	7689648	3	813											
PLA2G2A	5320	broad.mit.edu	37	chr1	20302255	20302255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactggtactttttattgTaggtcgtcttgtttctagca	9	6	2	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:20302255T>C	uc001bcu.3	-	4	592	c.374A>G	c.(373-375)tAc>tGc	p.Y125C	PLA2G2A_uc001bcv.3_Missense_Mutation_p.Y125C|PLA2G2A_uc010oda.2_Missense_Mutation_p.Y125C|PLA2G2A_uc010odb.2_Missense_Mutation_p.Y125C	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA.	125					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.Y125N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTTTATTGTAGGTCGTCTT	0.458													41	42					0	0	1	0	0	C	20302255	T	C	20302255	3	2	42	1	0	0	0	0	1	0	0	0	11995	1638	57	3	64	3	PLA2G2A	1	20302255	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		20302255	228948366	1	814											
OBSCN	84033	broad.mit.edu	37	chr1	228506696	228506696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccctggctcggaaacgtcGcatgagccgtgagcccacgc	14	15	0	2			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:228506696G>T	uc009xez.1	+	53	14287	c.14243G>T	c.(14242-14244)cGc>cTc	p.R4748L	OBSCN_uc001hsn.3_Missense_Mutation_p.R4748L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4748					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGAAACGTCGCATGAGCCGT	0.682													5	1					0	0	1	0	0	T	228506696	G	T	228506696	3	4	42	1	0	0	0	0	1	0	0	0	10812	1087	38	4	14453	4	OBSCN	1	228506696	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	208204441	228506696	20743925	2	815											
ERBB4	2066	broad.mit.edu	37	chr2	212251745	212251745	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtagggtgccattacagcagGagtcatcaaaaatctcagca	10	9	3	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr2:212251745G>C	uc002veg.1	-	26	3412	c.3314C>G	c.(3313-3315)tCc>tGc	p.S1105C	ERBB4_uc002veh.1_Missense_Mutation_p.S1089C|ERBB4_uc010zji.1_Missense_Mutation_p.S1095C|ERBB4_uc010zjj.1_Missense_Mutation_p.S1079C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1105					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D1104Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATTACAGCAGGAGTCATCAAA	0.557										TSP Lung(8;0.080)			37	54					0	0	1	0	0	C	212251745	G	C	212251745	3	2	42	1	0	0	0	0	1	0	0	0	5209	1174	41	4	620	4	ERBB4	2	212251745	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		212251745	30947628	3	816											
APPL1	26060	broad.mit.edu	37	chr3	57282228	57282228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgtcagtgttcgcAgggaaatggacagtgatata	13	5	2	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:57282228A>G	uc003dio.3	+	9	859	c.712A>G	c.(712-714)Agg>Ggg	p.R238G	APPL1_uc010hnb.3_Missense_Mutation_p.R238G|APPL1_uc011bey.1_Missense_Mutation_p.R221G	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	238	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R237C(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGTGTTCGCAGGGAAATGGA	0.408													6	67					0	0	1	0	0	G	57282228	A	G	57282228	3	3	42	1	0	0	0	0	1	0	0	0	817	179	7	3	750	3	APPL1	3	57282228	Missense_Mutation	SNP	A	TCGA-BJ-A4O9-01A-11D-A257-08		57282228	140740202	4	817											
PDIA5	10954	broad.mit.edu	37	chr3	122808075	122808075	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgctcattgagagaatctctGaccccaaggacttgaaaaaa	8	10	2	4			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:122808075G>A	uc003egc.2	+	1	259	c.103G>A	c.(103-105)Gac>Aac	p.D35N	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	35					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GAGAATCTCTGACCCCAAGGA	0.512													36	54					0	0	1	0	0	A	122808075	G	A	122808075	3	1	42	1	0	0	0	0	1	0	0	0	11671	1290	45	2	109	2	PDIA5	3	122808075	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	65525847	122808075	75214355	5	818											
MBLAC1	255374	broad.mit.edu	37	chr7	99725100	99725100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggttctgctgcagggcTacgcggagccagagggtgtg	19	8	1	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:99725100T>C	uc003utp.3	+	1	478	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	MBLAC1_uc022aig.1_Missense_Mutation_p.Y28H	NM_203397	NP_981942	A4D2B0	MBLC1_HUMAN	Homo sapiens metallo-beta-lactamase domain containing 1 (MBLAC1), mRNA.	28							hydrolase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GCTGCAGGGCTACGCGGAGCC	0.726													3	9					0	0	1	0	0	C	99725100	T	C	99725100	3	2	42	1	0	0	0	0	1	0	0	0	9351	1522	53	3	84	3	MBLAC1	7	99725100	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		99725100	59413563	6	819											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	31					0	0	1	0	0	T	140453136	A	T	140453136	3	4	42	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A4O9-01A-11D-A257-08	40728036	140453136	18685527	7	820											
RAD23B	5887	broad.mit.edu	37	chr9	110074019	110074019	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgcaacgagtgcacttgGtaagtatctgcttttcctta	9	8	1	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr9:110074019G>T	uc004bde.3	+	5	947	c.553_splice	c.e5+1	p.V185_splice	RAD23B_uc011lwa.2_Splice_Site_p.V185_splice|RAD23B_uc022blj.1_Splice_Site_p.V113_splice|RAD23B_uc011lwb.2_Splice_Site_p.V164_splice	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	185					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGTGCACTTGGTAAGTATCTG	0.308								Direct reversal of damage;Nucleotide excision repair (NER)					15	19					0	0	1	0	0	T	110074019	G	T	110074019	5	4	42	1	0	0	0	0	0	0	1	0	12983	1275	44	4	572	4	RAD23B	9	110074019	Splice_Site	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		110074019	31139412	8	821											
C2CD3	26005	broad.mit.edu	37	chr11	73834059	73834059	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtataaaataaattctccaGaagactctggtcatactgag	7	7	3	3			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr11:73834059G>C	uc001ouu.2	-	7	1566	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V	C2CD3_uc001ouv.2_Missense_Mutation_p.L447V	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	447						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAATTCTCCAGAAGACTCTGG	0.428													25	30					0	0	1	0	0	C	73834059	G	C	73834059	3	2	42	1	0	0	0	0	1	0	0	0	2154	933	33	4	4648	4	C2CD3	11	73834059	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		73834059	61172457	9	822											
OR6C75	390323	broad.mit.edu	37	chr12	55759422	55759422	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgtaattgatcattttatCtgtgactcttctccaatgct	5	8	4	2			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:55759422C>T	uc010spk.2	+	0	528	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATCATTTTATCTGTGACTCTT	0.428													22	35					0	0	1	0	0	T	55759422	C	T	55759422	2	4	42	1	0	0	0	0	0	0	0	1	11199	903	32	2		2	OR6C75	12	55759422	Silent	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		55759422	78092473	10	823											
TRHDE	29953	broad.mit.edu	37	chr12	72956810	72956810	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaactaaagcacttaaacttCagaataacaggtatgacatt	5	7	1	2			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:72956810C>T	uc001sxa.3	+	8	1927	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	633					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTTAAACTTCAGAATAACAG	0.274													33	58					0	0	1	0	0	T	72956810	C	T	72956810	4	4	42	1	0	0	0	0	0	1	0	0	16476	827	29	2	1931	2	TRHDE	12	72956810	Nonsense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	17197388	72956810	60895085	11	824											
DPF3	8110	broad.mit.edu	37	chr14	73220067	73220067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtatgtatacagctggCccggggcaaggcctgtggac	16	10	0	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73220067C>T	uc001xnc.2	-	2	219	c.206G>A	c.(205-207)gGc>gAc	p.G69D	DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.G69D|DPF3_uc010ttq.1_Missense_Mutation_p.G79D	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	69					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ATACAGCTGGCCCGGGGCAAG	0.542													3	21					0	0	1	0	0	T	73220067	C	T	73220067	3	4	42	1	0	0	0	0	1	0	0	0	4718	739	26	2	895	2	DPF3	14	73220067	Missense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		73220067	34129473	12	825											
ZFYVE1	53349	broad.mit.edu	37	chr14	73491207	73491207	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctctgctggggaagtctGggcactcatactcacgctgg	12	12	4	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73491207G>A	uc001xnm.3	-	1	731	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	ZFYVE1_uc010arj.3_Nonsense_Mutation_p.Q4*	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	4						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGGGAAGTCTGGGCACTCATA	0.527													5	33					0	0	1	0	0	A	73491207	G	A	73491207	4	1	42	1	0	0	0	0	0	1	0	0	17660	1357	47	2	2367	2	ZFYVE1	14	73491207	Nonsense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	271140	73491207	33858333	13	826											
AKT1	207	broad.mit.edu	37	chr14	105242025	105242025	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggccagggacacctccatCtcttcagcccctgagttgtc	9	15	2	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:105242025C>G	uc001ypk.3	-	4	953	c.399G>C	c.(397-399)gaG>gaC	p.E133D	AKT1_uc001ypl.3_Missense_Mutation_p.E133D|AKT1_uc010axa.3_Missense_Mutation_p.E133D|AKT1_uc001ypm.3_Missense_Mutation_p.E133D|AKT1_uc001ypn.3_Missense_Mutation_p.E133D|AKT1_uc010tyk.2_Missense_Mutation_p.E71D	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	133					G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACACCTCCATCTCTTCAGCCC	0.647		1	Mis		"breast, colorectal, ovarian, NSCLC"								22	24					0	0	1	0	0	G	105242025	C	G	105242025	3	3	42	1	0	0	0	0	1	0	0	0	478	912	32	4	1083	4	AKT1	14	105242025	Missense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	31750818	105242025	2107515	14	827											
RAB27A	5873	broad.mit.edu	37	chr15	55497815	55497815	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggacttgtccacacaccgttCcattcgcttcattatcaggt	7	13	2	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:55497815C>A	uc002acr.3	-	6	798	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	RAB27A_uc002aco.3_Nonsense_Mutation_p.E186*|RAB27A_uc002acp.3_Nonsense_Mutation_p.E186*|RAB27A_uc002acq.3_Nonsense_Mutation_p.E186*	NM_183235	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 3, mRNA.	186					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACACACCGTTCCATTCGCTTC	0.468													62	83					0	0	1	0	0	A	55497815	C	A	55497815	4	1	42	1	0	0	0	0	0	1	0	0	12914	864	30	4	113	4	RAB27A	15	55497815	Nonsense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		55497815	47033577	15	828											
MPI	4351	broad.mit.edu	37	chr15	75182420	75182420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagggggcgagcatggcCgctccgcgaggtgagccatt	18	11	0	1	rs149477499		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:75182420C>T	uc002azc.1	+	0	11	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MPI_uc010ulv.2_Silent_p.A2A|MPI_uc010ulw.2_5'UTR|MPI_uc002azd.1_Silent_p.A2A|MPI_uc010ulx.1_5'UTR|MPI_uc002aze.1_Silent_p.A2A	NM_002435	NP_002426	P34949	MPI_HUMAN	Homo sapiens mannose phosphate isomerase (MPI), mRNA.	2					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CGAGCATGGCCGCTCCGCGAG	0.662													15	23					0	0	1	0	0	T	75182420	C	T	75182420	2	4	42	1	0	0	0	0	0	0	0	1	9729	639	23	1		1	MPI	15	75182420	Silent	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	19684605	75182420	27348972	16	829											
MLYCD	23417	broad.mit.edu	37	chr16	83948837	83948837	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcgcctggtacctgtatggaGagaagcaccgcggctacgcg	15	12	0	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr16:83948837G>C	uc002fgz.3	+	4	1245	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	409					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTGTATGGAGAGAAGCACCG	0.647													45	44					0	0	1	0	0	C	83948837	G	C	83948837	3	2	42	1	0	0	0	0	1	0	0	0	9638	943	33	4	1243	4	MLYCD	16	83948837	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		83948837	6405916	17	830											
ARID3A	1820	broad.mit.edu	37	chr19	929821	929821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcggcccgggaggggaCaccgggctcacccgggcgag	20	14	1	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:929821C>T	uc002lql.3	+	1	583	c.293C>T	c.(292-294)aCa>aTa	p.T98I		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	98	Glu-rich.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGAGGGGACACCGGGCTCA	0.721													2	0					0	0	1	0	0	T	929821	C	T	929821	3	4	42	1	0	0	0	0	1	0	0	0	916	478	17	2	295	2	ARID3A	19	929821	Missense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		929821	58199162	18	831											
HSH2D	84941	broad.mit.edu	37	chr19	16268601	16268601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctttgcccctgggtactGctagagaacaggtccaccct	9	15	0	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:16268601G>A	uc002ndp.4	+	8	1586	c.1055G>A	c.(1054-1056)tGc>tAc	p.C352Y	HSH2D_uc002ndr.3_3'UTR|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	352						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCTGGGTACTGCTAGAGAACA	0.612													7	4					0	0	1	0	0	A	16268601	G	A	16268601	3	1	42	1	0	0	0	0	1	0	0	0	7400	1306	46	2	1074	2	HSH2D	19	16268601	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	15338780	16268601	42860382	19	832											
SHANK1	50944	broad.mit.edu	37	chr19	51207039	51207039	+	Frame_Shift_Del	DEL	G	G	-													gcaccgtcagccctgtgcctGggggcccccgtcgccgggcc							TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:51207039delG	uc002psx.1	-	9	1290	c.1271delC	c.(1270-1272)ccafs	p.P424fs		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	424					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P424fs*5(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCTGTGCCTGGGGGCCCCCG	0.721													2	4	---	---	---	---						-	51207039	G	-	51207039	7	5	42	1	0	1	0	1	0	0	0	0	14264	1348	47	0	5270	0	SHANK1	19	51207039	Frame_Shift_Del	DEL	G	TCGA-BJ-A4O9-01A-11D-A257-08	34938438	51207039	7921944	20	833											
CHD6	84181	broad.mit.edu	37	chr20	40033972	40033972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccagcaatcagtccaTtcatgaacagtggccccatt	6	15	2	1			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr20:40033972T>C	uc002xka.1	-	36	7587	c.7409A>G	c.(7408-7410)aAt>aGt	p.N2470S	CHD6_uc002xjz.1_Missense_Mutation_p.N7S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2470					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATCAGTCCATTCATGAACAG	0.607													29	28					0	0	1	0	0	C	40033972	T	C	40033972	3	2	42	1	0	0	0	0	1	0	0	0	3329	1493	52	3	742	3	CHD6	20	40033972	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		40033972	22991548	21	834											
ZFX	7543	broad.mit.edu	37	chrX	24226355	24226355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgttgctgaaatcgctgacGaagtttatatggaagtgatc	11	5	0	3			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:24226355G>A	uc011mjv.2	+	7	1327	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	ZFX_uc004dbd.2_Missense_Mutation_p.E321K|ZFX_uc004dbf.3_Missense_Mutation_p.E321K|ZFX_uc004dbe.3_Missense_Mutation_p.E321K|ZFX_uc022bua.1_Missense_Mutation_p.E321K|ZFX_uc010nfx.2_Missense_Mutation_p.E92K|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_Missense_Mutation_p.E24K	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AATCGCTGACGAAGTTTATAT	0.438													27	30					0	0	1	0	0	A	24226355	G	A	24226355	3	1	42	1	0	0	0	0	1	0	0	0	17658	1059	37	1	979	1	ZFX	23	24226355	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		24226355	131044205	22	835											
FTHL17	53940	broad.mit.edu	37	chrX	31089693	31089693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggcacagctgggggtcGcccttctccacggccagctg	14	14	1	0			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:31089693G>A	uc004dcl.1	-	0	478	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	126	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GCTGGGGGTCGCCCTTCTCCA	0.607													27	40					0	0	1	0	0	A	31089693	G	A	31089693	2	1	42	1	0	0	0	0	0	0	0	1	6083	1074	38	1		1	FTHL17	23	31089693	Silent	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	6863338	31089693	124180867	23	836											
GSTM5	2949	broad.mit.edu	37	chr1	110257888	110257888	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccccatcctcctttctctTtgatgccccttgttcctttc	4	18	1	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr1:110257888T>C	uc010ovu.1	+	4	1389	c.470T>C	c.(469-471)tTt>tCt	p.F157S	GSTM5_uc001dyn.3_Intron			P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TCCTTTCTCTTTGATGCCCCT	0.483													12	103					0	0	1	0	0	C	110257888	T	C	110257888	3	2	43	1	0	0	0	0	1	0	0	0	6841	1856	64	3		3	GSTM5	1	110257888	Missense_Mutation	SNP	T	TCGA-CE-A13K-01A-11D-A10S-08		110257888	138992733	1	837											
PAPSS1	9061	broad.mit.edu	37	chr4	108566109	108566109	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccagccacccagagggTggaggaggaggacagggcgc	18	10	0	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:108566109T>A	uc003hyk.3	-	9	1439	c.1355A>T	c.(1354-1356)cAc>cTc	p.H452L		NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	452					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		ACCCAGAGGGTGGAGGAGGAG	0.542													12	109					0	0	1	0	0	A	108566109	T	A	108566109	3	1	43	1	0	0	0	0	1	0	0	0	11434	1696	59	5	531	5	PAPSS1	4	108566109	Missense_Mutation	SNP	T	TCGA-CE-A13K-01A-11D-A10S-08		108566109	82588167	2	838											
TRIML1	339976	broad.mit.edu	37	chr4	189068316	189068316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctttgaaaggtcagcaCgtcagagagcctgtgtgtaa	11	9	3	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:189068316C>T	uc003izm.1	+	5	1312	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	TRIML1_uc003izn.1_Silent_p.H123H	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	399	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.H399Q(6)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488													81	109					0	0	1	0	0	T	189068316	C	T	189068316	2	4	43	1	0	0	0	0	0	0	0	1	16547	535	19	1		1	TRIML1	4	189068316	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	80502207	189068316	2085960	3	839											
PCDHGC5	56097	broad.mit.edu	37	chr5	140724389	140724389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtacccggctgctcacGgtgaatgccactgaccctga	13	13	1	3			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr5:140724389G>A	uc003ljm.2	+	0	789	c.789G>A	c.(787-789)acG>acA	p.T263T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.T263T	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	263	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCTCACGGTGAATGCCA	0.478													35	52					0	0	1	0	0	A	140724389	G	A	140724389	2	1	43	1	0	0	0	0	0	0	0	1	11571	1103	39	1		1	PCDHGC5	5	140724389	Silent	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08		140724389	40190871	4	840											
EHMT2	10919	broad.mit.edu	37	chr6	31847931	31847931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtccaggcgggccagaCggctctgctccagggcaatg	17	12	1	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:31847931C>A	uc011don.1	-	25	3636	c.3632G>T	c.(3631-3633)cGt>cTt	p.R1211L	EHMT2_uc003nxx.1_Missense_Mutation_p.R386L|EHMT2_uc003nxy.1_Missense_Mutation_p.R986L|EHMT2_uc003nxz.1_Missense_Mutation_p.R1188L|EHMT2_uc003nya.1_Missense_Mutation_p.R1154L|SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_025256	NP_079532	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a-SPI, mRNA.	1188					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGGGCCAGACGGCTCTGCTC	0.612													3	45					0	0	1	0	0	A	31847931	C	A	31847931	3	1	43	1	0	0	0	0	1	0	0	0	4984	536	19	4	73	4	EHMT2	6	31847931	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		31847931	139267136	5	841											
SLC29A1	2030	broad.mit.edu	37	chr6	44197517	44197517	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcacctacctcaactccttCctgcatcagaggtgagtgcc	7	15	3	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:44197517C>T	uc003oww.1	+	4	732	c.540C>T	c.(538-540)ttC>ttT	p.F180F	SLC29A1_uc021yzw.1_Silent_p.F101F|SLC29A1_uc011dvp.1_Silent_p.F120F|SLC29A1_uc003owu.1_Silent_p.F101F|SLC29A1_uc003owv.1_Silent_p.F101F|SLC29A1_uc011dvq.1_Silent_p.F143F|SLC29A1_uc003owx.1_Silent_p.F101F|SLC29A1_uc003owy.1_Silent_p.F101F|SLC29A1_uc003owz.1_Silent_p.F101F|SLC29A1_uc021yzx.1_Silent_p.F101F	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	101					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TCAACTCCTTCCTGCATCAGA	0.592													4	90					0	0	1	0	0	T	44197517	C	T	44197517	2	4	43	1	0	0	0	0	0	0	0	1	14534	854	30	2		2	SLC29A1	6	44197517	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	12349586	44197517	126917550	6	842											
MDN1	23195	broad.mit.edu	37	chr6	90365677	90365677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagcctgcccaggtttcCtcttaaaactctgagaaata	7	11	3	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:90365677C>T	uc003pnn.1	-	91	15412	c.15296G>A	c.(15295-15297)aGg>aAg	p.R5099K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5099					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCAGGTTTCCTCTTAAAACT	0.468													8	66					0	0	1	0	0	T	90365677	C	T	90365677	3	4	43	1	0	0	0	0	1	0	0	0	9415	681	24	2	1538	2	MDN1	6	90365677	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	46168160	90365677	80749390	7	843											
TFPI2	7980	broad.mit.edu	37	chr7	93519448	93519448	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcgcgcagggcacttaCtttctatcctccagcaagca	11	13	1	0			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr7:93519448C>A	uc003umy.1	-	2	346	c.271_splice	c.e2+1	p.K91_splice	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Splice_Site_p.K91_splice|TFPI2_uc003una.1_Splice_Site_p.K80_splice	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	91					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AGGGCACTTACTTTCTATCCT	0.602													23	32					0	0	1	0	0	A	93519448	C	A	93519448	5	1	43	1	0	0	0	0	0	0	1	0	15806	579	20	4	451	4	TFPI2	7	93519448	Splice_Site	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		93519448	65619215	8	844											
MTERFD1	51001	broad.mit.edu	37	chr8	97251725	97251725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacataaaaatctaaagCgtttttaagaatttttcaaa	3	5	2	1			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr8:97251725C>T	uc003yhs.1	-	7	1326	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	MTERFD1_uc003yhr.1_Silent_p.T295T|MTERFD1_uc010mbd.1_3'UTR	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	416					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAATCTAAAGCGTTTTTAAGA	0.284													12	19					0	0	1	0	0	T	97251725	C	T	97251725	2	4	43	1	0	0	0	0	0	0	0	1	9919	755	27	1		1	MTERFD1	8	97251725	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		97251725	49112297	9	845											
SVIL	6840	broad.mit.edu	37	chr10	29754571	29754571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggaagggcatggaaCtgaccacagagggggctcgg	17	10	0	2			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr10:29754571C>A	uc001iut.1	-	33	6839	c.6086G>T	c.(6085-6087)aGt>aTt	p.S2029I	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.S943I|SVIL_uc001iuu.1_Missense_Mutation_p.S1603I	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	2029					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCATGGAACTGACCACAGA	0.587													20	61					0	0	1	0	0	A	29754571	C	A	29754571	3	1	43	1	0	0	0	0	1	0	0	0	15418	565	20	4	578	4	SVIL	10	29754571	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		29754571	105780176	10	846											
PCSK4	54760	broad.mit.edu	37	chr19	1482365	1482366	+	Frame_Shift_Del	DEL	CT	CT	-													cactcaccctggcacagcccCtctgtgtcccgctgcacaca							TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:1482365_1482366delCT	uc002ltb.1	-	13	1867_1868	c.1805_1806delAG	c.(1804-1806)gagfs	p.E602fs	PCSK4_uc002lsz.2_Frame_Shift_Del_p.E89fs|PCSK4_uc002lta.2_Frame_Shift_Del_p.R372fs	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	602					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCACAGCCCCTCTGTGTCCCG	0.728													3	3	---	---	---	---						-	1482366	CT	-	1482365	7	5	43	1	0	1	0	1	0	0	0	0	11602	680	24	0	469	0	PCSK4	19	1482365	Frame_Shift_Del	DEL	CT	TCGA-CE-A13K-01A-11D-A10S-08		1482365	57646618	11	847											
KANK3	256949	broad.mit.edu	37	chr19	8389408	8389408	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgctcagcctccagggcGatggccagggcactggtgcc	14	15	1	0			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:8389408G>A	uc010dwa.3	-	9	2373	c.2307C>T	c.(2305-2307)atC>atT	p.I769I		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	769										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CCTCCAGGGCGATGGCCAGGG	0.637													3	41					0	0	1	0	0	A	8389408	G	A	8389408	2	1	43	1	0	0	0	0	0	0	0	1	7978	1048	37	1		1	KANK3	19	8389408	Silent	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08	6907043	8389408	50739575	12	848											
IL28B	282617	broad.mit.edu	37	chr19	39734513	39734513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaatggtggaggcggcccCgggtcctgggccctgccgtg	18	14	0	0	rs146276429		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:39734513C>T	uc010xut.2	-	3	445	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	IL28B_uc010xuu.2_Missense_Mutation_p.R148Q	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	148					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAGGCGGCCCCGGGTCCTGGG	0.692													8	58					0	0	1	0	0	T	39734513	C	T	39734513	3	4	43	1	0	0	0	0	1	0	0	0	7683	652	23	1	154	1	IL28B	19	39734513	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	31345105	39734513	19394470	13	849											
ANKRD17	26057	broad.mit.edu	37	chr4	73957562	73957562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctcaaaggcctgacaGgaaacggaccccaagtggat	13	11	1	1			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:73957562G>A	uc003hgp.3	-	28	5900	c.5783C>T	c.(5782-5784)cCt>cTt	p.P1928L	ANKRD17_uc003hgo.3_Missense_Mutation_p.P1815L|ANKRD17_uc003hgq.3_Missense_Mutation_p.P1677L|ANKRD17_uc003hgr.3_Missense_Mutation_p.P1927L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1928					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCCTGACAGGAAACGGACC	0.532													3	89					0	0	1	0	0	A	73957562	G	A	73957562	3	1	44	1	0	0	0	0	1	0	0	0	646	1000	35	2	2052	2	ANKRD17	4	73957562	Missense_Mutation	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		73957562	117196714	1	850											
CYP2U1	113612	broad.mit.edu	37	chr4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctccatcatcagcaatgCcgtctctaacatcatttgct	4	13	5	0			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:108866315C>T	uc003hyp.3	+	1	763	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	227					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A227A(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438													4	76					0	0	1	0	0	T	108866315	C	T	108866315	3	4	44	1	0	0	0	0	1	0	0	0	4175	739	26	2	686	2	CYP2U1	4	108866315	Missense_Mutation	SNP	C	TCGA-CE-A27D-01A-11D-A16O-08	34908753	108866315	82287961	2	851											
RAI14	26064	broad.mit.edu	37	chr5	34811917	34811917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggcagctctaacgctgtGgaagccttaattaaaaaggg	11	7	1	0			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr5:34811917G>A	uc003jis.3	+	10	1151	c.612G>A	c.(610-612)gtG>gtA	p.V204V	RAI14_uc003jir.3_Silent_p.V201V|RAI14_uc010iur.3_Silent_p.V201V|RAI14_uc011coj.2_Silent_p.V201V|RAI14_uc010ius.1_Silent_p.V130V|RAI14_uc003jit.3_Silent_p.V201V|RAI14_uc011cok.2_Silent_p.V193V	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	201						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTAACGCTGTGGAAGCCTTAA	0.378													7	52					0	0	1	0	0	A	34811917	G	A	34811917	2	1	44	1	0	0	0	0	0	0	0	1	13008	1335	47	2		2	RAI14	5	34811917	Silent	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		34811917	146103343	3	852											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651637	121651637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatccttccacaagttaCttcagctaccgagagtgata	6	11	2	2			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr7:121651637C>T	uc003vjy.3	+	11	2932	c.2537C>T	c.(2536-2538)aCt>aTt	p.T846I	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	846					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCACAAGTTACTTCAGCTACC	0.473													8	126					0	0	1	0	0	T	121651637	C	T	121651637	3	4	44	1	0	0	0	0	1	0	0	0	12814	565	20	2	2583	2	PTPRZ1	7	121651637	Missense_Mutation	SNP	C	TCGA-CE-A27D-01A-11D-A16O-08		121651637	37487026	4	853											
C10orf12	26148	broad.mit.edu	37	chr10	98742786	98742786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctagtgcaaaacgttcaAaaaaagaagggcaccctggt	9	9	1	1			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr10:98742786A>G	uc001kmv.3	+	0	1746	c.1639A>G	c.(1639-1641)Aaa>Gaa	p.K547E		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	547										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAACGTTCAAAAAAAGAAGG	0.443													8	54					0	0	1	0	0	G	98742786	A	G	98742786	3	3	44	1	0	0	0	0	1	0	0	0	1589	15	1	3	1641	3	C10orf12	10	98742786	Missense_Mutation	SNP	A	TCGA-CE-A27D-01A-11D-A16O-08		98742786	36791961	5	854											
CCDC89	220388	broad.mit.edu	37	chr11	85396623	85396623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagctccccagtgagggccTcacaccggactgtgagctgt	12	14	1	2			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr11:85396623T>C	uc001pau.1	-	0	698	c.551A>G	c.(550-552)gAg>gGg	p.E184G		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.	184						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGTGAGGGCCTCACACCGGAC	0.587													3	147					0	0	1	0	0	C	85396623	T	C	85396623	3	2	44	1	0	0	0	0	1	0	0	0	2866	1551	54	3	577	3	CCDC89	11	85396623	Missense_Mutation	SNP	T	TCGA-CE-A27D-01A-11D-A16O-08		85396623	49609893	6	855											
ZNF677	342926	broad.mit.edu	37	chr19	53740670	53740670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactttggataaaagccctgCcacacacattacatttgtgt	6	10	0	0			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr19:53740670C>T	uc002qbf.1	-	4	1495	c.1310G>A	c.(1309-1311)gGc>gAc	p.G437D	ZNF677_uc002qbg.1_Missense_Mutation_p.G437D	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AAAAGCCCTGCCACACACATT	0.368													3	34					0	0	1	0	0	T	53740670	C	T	53740670	3	4	44	1	0	0	0	0	1	0	0	0	18081	739	26	2	448	2	ZNF677	19	53740670	Missense_Mutation	SNP	C	TCGA-CE-A27D-01A-11D-A16O-08		53740670	5388313	7	856											
MGAT3	4248	broad.mit.edu	37	chr22	39883399	39883399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatgttctgtatggccgGcctgtgcctcatctccttcc	8	15	4	0			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr22:39883399G>A	uc003axv.4	+	1	286	c.47G>A	c.(46-48)gGc>gAc	p.G16D	MGAT3_uc010gxy.3_Missense_Mutation_p.G16D	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	16					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.A15V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGTATGGCCGGCCTGTGCCTC	0.562													4	212					0	0	1	0	0	A	39883399	G	A	39883399	3	1	44	1	0	0	0	0	1	0	0	0	9544	1203	42	2	49	2	MGAT3	22	39883399	Missense_Mutation	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		39883399	11421167	8	857											
MACF1	23499	broad.mit.edu	37	chr1	39847746	39847746	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccggccgtggctgatggaGaaagaactgatgatgggagt	16	7	0	5			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:39847746G>A	uc021olw.1	+	19	9090	c.9090G>A	c.(9088-9090)gaG>gaA	p.E3030E	MACF1_uc021ols.1_Silent_p.E2528E|MACF1_uc001cdc.2_Silent_p.E2507E|MACF1_uc021olt.1_Silent_p.E2528E|MACF1_uc001cda.1_Silent_p.E2415E	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4595					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTGATGGAGAAAGAACTGA	0.532													3	64					0	0	1	0	0	A	39847746	G	A	39847746	2	1	45	1	0	0	0	0	0	0	0	1	9144	933	33	2		2	MACF1	1	39847746	Silent	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		39847746	209402875	1	858											
OR6K6	128371	broad.mit.edu	37	chr1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgttatccttgctcccTttttcaaccccatcatctat	2	14	3	0			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:158725536T>C	uc001fsw.1	+	0	931	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438													3	135					0	0	1	0	0	C	158725536	T	C	158725536	3	2	45	1	0	0	0	0	1	0	0	0	11204	1609	56	3	933	3	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-CE-A3MD-01A-11D-A20C-08	118877790	158725536	90525085	2	859											
GOLGB1	2804	broad.mit.edu	37	chr3	121409980	121409980	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattttgcaaggaactcataGaccttccaaaagactgaatt	6	8	1	3			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr3:121409980G>A	uc010hrc.3	-	13	8357	c.8231C>T	c.(8230-8232)tCt>tTt	p.S2744F	GOLGB1_uc003eei.4_Missense_Mutation_p.S2739F|GOLGB1_uc003eej.4_Missense_Mutation_p.S2705F|GOLGB1_uc021xcy.1_Missense_Mutation_p.S2664F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2739					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGAACTCATAGACCTTCCAAA	0.398													6	176					0	0	1	0	0	A	121409980	G	A	121409980	3	1	45	1	0	0	0	0	1	0	0	0	6565	942	33	2	1599	2	GOLGB1	3	121409980	Missense_Mutation	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		121409980	76612450	3	860											
ARSI	340075	broad.mit.edu	37	chr5	149676882	149676882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggagaagcttcgagcCctcccttcctcttcctcctc	7	20	1	1			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr5:149676882C>A	uc003lrv.2	-	1	2194	c.1605G>T	c.(1603-1605)agG>agT	p.R535S		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	535						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	p.G534W(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTCGAGCCCTCCCTTCCT	0.552													109	161					0	0	1	0	0	A	149676882	C	A	149676882	3	1	45	1	0	0	0	0	1	0	0	0	994	622	22	4	108	4	ARSI	5	149676882	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		149676882	31238378	4	861											
DNAH8	1769	broad.mit.edu	37	chr6	38775405	38775405	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgtaaagaggtctttgCttttttctctcatcaattac	8	7	4	1			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr6:38775405C>G	uc021yzh.1	+	23	3279	c.3170C>G	c.(3169-3171)gCt>gGt	p.A1057G	DNAH8_uc003ooe.2_Missense_Mutation_p.A840G	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGGTCTTTGCTTTTTTCTCT	0.343													28	65					0	0	1	0	0	G	38775405	C	G	38775405	3	3	45	1	0	0	0	0	1	0	0	0	4607	797	28	4	2597	4	DNAH8	6	38775405	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		38775405	132339662	5	862											
TG	7038	broad.mit.edu	37	chr8	133920500	133920500	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgccgggcaagatgtGcagtgctgactacgcggatt	14	12	0	2			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr8:133920500G>C	uc003ytw.3	+	17	3958	c.3917G>C	c.(3916-3918)tGc>tCc	p.C1306S	TG_uc010mdw.3_Missense_Mutation_p.C65S	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1306					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCAAGATGTGCAGTGCTGAC	0.597													47	72					0	0	1	0	0	C	133920500	G	C	133920500	3	2	45	1	0	0	0	0	1	0	0	0	15810	1319	46	4	3987	4	TG	8	133920500	Missense_Mutation	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		133920500	12443522	6	863											
OR56B4	196335	broad.mit.edu	37	chr11	6129771	6129771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcccacctcatcctcatcCtcttccacacaggtatcatt	3	18	4	0			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:6129771C>A	uc010qzx.2	+	0	763	c.763C>A	c.(763-765)Ctc>Atc	p.L255I		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCTCATCCTCTTCCACAC	0.478													4	83					0	0	1	0	0	A	6129771	C	A	6129771	3	1	45	1	0	0	0	0	1	0	0	0	11138	681	24	4	765	4	OR56B4	11	6129771	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		6129771	128876745	7	864											
TSG101	7251	broad.mit.edu	37	chr11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtttctggtgacccTttttcaggtcttcttctgtt	7	11	5	1			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:18505466T>C	uc001mor.3	-	7	934	c.794A>G	c.(793-795)aAg>aGg	p.K265R		NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438													6	392					0	0	1	0	0	C	18505466	T	C	18505466	3	2	45	1	0	0	0	0	1	0	0	0	16613	1609	56	3	390	3	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-CE-A3MD-01A-11D-A20C-08	12375695	18505466	116501050	8	865											
NAA40	79829	broad.mit.edu	37	chr11	63720256	63720256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttggaaagcaaggtgCggcggaaaggcctggggaag	19	6	0	0			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:63720256C>T	uc009yoz.3	+	5	566	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	NAA40_uc010rmw.2_Missense_Mutation_p.R107W|NAA40_uc010rmx.2_Missense_Mutation_p.R126W|NAA40_uc010rmy.2_Non-coding_Transcript	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.	147	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGCAAGGTGCGGCGGAAAGG	0.542													4	118					0	0	1	0	0	T	63720256	C	T	63720256	3	4	45	1	0	0	0	0	1	0	0	0	10125	759	27	1	461	1	NAA40	11	63720256	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08	45214790	63720256	71286260	9	866											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275958	130275958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctgcacacccgggtggCtccgctgcttcacgtcaata	10	15	3	0			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:130275958C>T	uc001qgg.4	-	8	2523	c.2165G>A	c.(2164-2166)aGc>aAc	p.S722N	ADAMTS8_uc001qgf.3_Missense_Mutation_p.S203N	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	722	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACCCGGGTGGCTCCGCTGCTT	0.542													92	132					0	0	1	0	0	T	130275958	C	T	130275958	3	4	45	1	0	0	0	0	1	0	0	0	272	797	28	2	508	2	ADAMTS8	11	130275958	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08	66555702	130275958	4730558	10	867											
ERC1	23085	broad.mit.edu	37	chr12	1225197	1225197	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggctgccatcctgcagactGaggtagaaacaattctggga	13	9	1	3			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr12:1225197G>T	uc001qjb.2	+	6	1808	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Nonsense_Mutation_p.E495*|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Nonsense_Mutation_p.E523*|ERC1_uc010sdv.1_Nonsense_Mutation_p.E271*|ERC1_uc009zdp.3_Nonsense_Mutation_p.E163*	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	523					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CCTGCAGACTGAGGTAGAAAC	0.428													47	115					0	0	1	0	0	T	1225197	G	T	1225197	4	4	45	1	0	0	0	0	0	1	0	0	5210	1291	45	4	1589	4	ERC1	12	1225197	Nonsense_Mutation	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		1225197	132626698	11	868											
OR4N5	390437	broad.mit.edu	37	chr14	20612596	20612596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcctctgaaggaaagagCaaggctatttccacatgcac	8	12	1	2			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:20612596C>A	uc010tla.2	+	0	702	c.702C>A	c.(700-702)agC>agA	p.S234R		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	234			S -> T (in dbSNP:rs10140908).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233R(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AAGGAAAGAGCAAGGCTATTT	0.502													60	164					0	0	1	0	0	A	20612596	C	A	20612596	3	1	45	1	0	0	0	0	1	0	0	0	11079	709	25	4	704	4	OR4N5	14	20612596	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		20612596	86736944	12	869											
LTBP2	4053	broad.mit.edu	37	chr14	74975354	74975354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacgaagccaggcgcgcacAgacagaagaaagacccgtgg	14	11	0	5			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:74975354A>G	uc001xqa.3	-	23	3992	c.3605T>C	c.(3604-3606)cTg>cCg	p.L1202P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1202	Cys-rich.|EGF-like 12; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCGCGCACAGACAGAAGAA	0.627													4	81					0	0	1	0	0	G	74975354	A	G	74975354	3	3	45	1	0	0	0	0	1	0	0	0	9074	188	7	3	1912	3	LTBP2	14	74975354	Missense_Mutation	SNP	A	TCGA-CE-A3MD-01A-11D-A20C-08	54362758	74975354	32374186	13	870											
NOX5	79400	broad.mit.edu	37	chr15	69331268	69331268	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gactacttgtatctgaacatCcccaccattgctcgctatga	6	13	1	2			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr15:69331268C>A	uc002ars.2	+	8	1484	c.1443C>A	c.(1441-1443)atC>atA	p.I481I	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.I435I|NOX5_uc002arp.2_Silent_p.I463I|NOX5_uc010bid.2_Silent_p.I446I|NOX5_uc010bie.2_Silent_p.I281I|NOX5_uc002arr.2_Silent_p.I453I|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	481	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTGAACATCCCCACCATTG	0.507													100	210					0	0	1	0	0	A	69331268	C	A	69331268	2	1	45	1	0	0	0	0	0	0	0	1	10559	845	30	4		4	NOX5	15	69331268	Silent	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		69331268	33200124	14	871											
C3orf71	646450	broad.mit.edu	37	chr3	48955844	48955844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggagaactgcgcggcgaaCgaggcctcggcaggggaagc	18	11	0	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr3:48955844C>A	uc010hkk.1	-	0	975	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.	247						integral to membrane				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						GCGCGGCGAACGAGGCCTCGG	0.592													5	119					0	0	1	0	0	A	48955844	C	A	48955844	3	1	46	1	0	0	0	0	1	0	0	0	2243	536	19	4	137	4	C3orf71	3	48955844	Missense_Mutation	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08		48955844	149066586	1	872											
SPATA18	132671	broad.mit.edu	37	chr4	52945025	52945025	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttggattatgtcatttgtcAtcttgatctatatgattctc	6	7	5	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:52945025A>T	uc003gzl.3	+	7	1423	c.1145A>T	c.(1144-1146)cAt>cTt	p.H382L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.H350L|SPATA18_uc003gzk.1_Missense_Mutation_p.H382L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	382					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCATTTGTCATCTTGATCTA	0.383													7	204					0	0	1	0	0	T	52945025	A	T	52945025	3	4	46	1	0	0	0	0	1	0	0	0	15002	217	8	5	1175	5	SPATA18	4	52945025	Missense_Mutation	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08		52945025	138209251	2	873											
FAM13A	10144	broad.mit.edu	37	chr4	89912157	89912157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaatacagtggcgagaTtgtgaacattcatgcgattc	10	9	1	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:89912157T>C	uc003hse.1	-	3	780	c.572A>G	c.(571-573)aAt>aGt	p.N191S	FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Missense_Mutation_p.N5S	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	191	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGTGGCGAGATTGTGAACATT	0.423													5	141					0	0	1	0	0	C	89912157	T	C	89912157	3	2	46	1	0	0	0	0	1	0	0	0	5452	1493	52	3	2616	3	FAM13A	4	89912157	Missense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08	36967132	89912157	101242119	3	874											
PDHA2	5161	broad.mit.edu	37	chr4	96761700	96761700	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttctgtccgatccattctCgcagagctgacgggaagaag	11	11	2	3			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:96761700C>T	uc003htr.4	+	0	462	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	133					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GATCCATTCTCGCAGAGCTGA	0.517													10	91					0	0	1	0	0	T	96761700	C	T	96761700	2	4	46	1	0	0	0	0	0	0	0	1	11665	871	31	1		1	PDHA2	4	96761700	Silent	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08	6849543	96761700	94392576	4	875											
STK31	56164	broad.mit.edu	37	chr7	23792452	23792452	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatactgaaagaaatgagGtaggtaaaagcatatttttc	9	3	0	3			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr7:23792452G>A	uc003sws.4	+	9	1200	c.1133_splice	c.e9+1	p.R378_splice	STK31_uc003swt.4_Splice_Site_p.R355_splice|STK31_uc011jze.2_Splice_Site_p.R378_splice|STK31_uc010kuq.3_Splice_Site_p.R355_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	378							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGAAATGAGGTAGGTAAAAG	0.303													3	46					0	0	1	0	0	A	23792452	G	A	23792452	5	1	46	1	0	0	0	0	0	0	1	0	15295	1275	44	2	1168	2	STK31	7	23792452	Splice_Site	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		23792452	135346211	5	876											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	55					0	0	1	0	0	T	140453136	A	T	140453136	3	4	46	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08	116660684	140453136	18685527	6	877											
COL15A1	1306	broad.mit.edu	37	chr9	101829274	101829274	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacctaccgagcattcttAtcttcccatttgcaagatct	4	14	3	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr9:101829274A>G	uc004azb.1	+	39	3968	c.3762A>G	c.(3760-3762)ttA>ttG	p.L1254L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1254	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAGCATTCTTATCTTCCCATT	0.463													4	138					0	0	1	0	0	G	101829274	A	G	101829274	2	3	46	1	0	0	0	0	0	0	0	1	3672	446	16	3		3	COL15A1	9	101829274	Silent	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08		101829274	39384157	7	878											
COPB1	1315	broad.mit.edu	37	chr11	14520418	14520418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctaatttcagatggtggTtctgaatccattggcacgtt	10	7	2	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr11:14520418T>C	uc001mli.2	-	1	364	c.57A>G	c.(55-57)gaA>gaG	p.E19E	COPB1_uc001mlg.2_Silent_p.E19E|COPB1_uc001mlh.2_Silent_p.E19E|PSMA1_uc010rcp.1_Non-coding_Transcript	NM_016451	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 1, mRNA.	19					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGATGGTGGTTCTGAATCCA	0.313													28	52					0	0	1	0	0	C	14520418	T	C	14520418	2	2	46	1	0	0	0	0	0	0	0	1	3728	1722	60	3		3	COPB1	11	14520418	Silent	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08		14520418	120486098	8	879											
CD3E	916	broad.mit.edu	37	chr11	118183648	118183648	+	Frame_Shift_Del	DEL	A	A	-													ccattcaaaagggcattctcAgtgattttccctaacccagc							TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr11:118183648delA	uc010rya.2	+	5	675	c.419delA	c.(418-420)cagfs	p.Q140fs	CD3E_uc001psq.4_Intron	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	0					G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGGCATTCTCAGTGATTTTCC	0.522													20	27	---	---	---	---						-	118183648	A	-	118183648	7	5	46	1	0	1	0	1	0	0	0	0	3011	203	7	0		0	CD3E	11	118183648	Frame_Shift_Del	DEL	A	TCGA-CE-A3ME-01A-11D-A20C-08	103663230	118183648	16822868	9	880											
SLC8A3	6547	broad.mit.edu	37	chr14	70634706	70634706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaggagtatctcaggaGcagaggaacccagggccata	14	8	1	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr14:70634706G>A	uc001xly.3	-	1	1188	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC8A3_uc001xlw.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlx.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlz.3_Missense_Mutation_p.A145V|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	145					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATCTCAGGAGCAGAGGAACC	0.488													4	74					0	0	1	0	0	A	70634706	G	A	70634706	3	1	46	1	0	0	0	0	1	0	0	0	14708	971	34	2	2488	2	SLC8A3	14	70634706	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		70634706	36714834	10	881											
CHRM5	1133	broad.mit.edu	37	chr15	34355399	34355399	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgatctccttcatcCtctgggccccagcaatcctc	7	18	3	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:34355399C>A	uc001zhk.1	+	2	1151	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	CHRM5_uc001zhl.1_Missense_Mutation_p.L161I|CHRM5_uc021sir.1_Missense_Mutation_p.L161I	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	161					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTCCTTCATCCTCTGGGCCCC	0.547													4	117					0	0	1	0	0	A	34355399	C	A	34355399	3	1	46	1	0	0	0	0	1	0	0	0	3380	681	24	4	483	4	CHRM5	15	34355399	Missense_Mutation	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08		34355399	68175993	11	882											
CLPX	10845	broad.mit.edu	37	chr15	65459053	65459053	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggttctttaattatgcttttCtttgagtctgcttcagatag	8	6	4	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:65459053C>T	uc002aom.3	-	3	501	c.429G>A	c.(427-429)aaG>aaA	p.K143K	CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Silent_p.K143K	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	143					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTATGCTTTTCTTTGAGTCTG	0.393													3	110					0	0	1	0	0	T	65459053	C	T	65459053	2	4	46	1	0	0	0	0	0	0	0	1	3556	912	32	2		2	CLPX	15	65459053	Silent	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08	31103654	65459053	37072339	12	883											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007535	93007535	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccgcataccatgcccTtggagtttaaggccctcaag	9	15	1	0			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:93007535T>C	uc002bra.3	+	5	1203	c.1048T>C	c.(1048-1050)Ttg>Ctg	p.L350L	ST8SIA2_uc002brb.3_Silent_p.L329L	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	350					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACCATGCCCTTGGAGTTTAA	0.577													3	172					0	0	1	0	0	C	93007535	T	C	93007535	2	2	46	1	0	0	0	0	0	0	0	1	15231	1606	56	3		3	ST8SIA2	15	93007535	Silent	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08	27548482	93007535	9523857	13	884											
ABR	29	broad.mit.edu	37	chr17	995059	995059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgagcacgggctgggagGtggtggcggtggccttcagg	22	7	1	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:995059G>T	uc002fsd.3	-	3	487	c.377C>A	c.(376-378)aCc>aAc	p.T126N	ABR_uc002fse.3_Missense_Mutation_p.T80N|ABR_uc002fsg.3_Missense_Mutation_p.T89N|ABR_uc002fsh.1_Missense_Mutation_p.T10N|ABR_uc010cjq.1_Missense_Mutation_p.T138N	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	126	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGGCTGGGAGGTGGTGGCGGT	0.572													19	203					0	0	1	0	0	T	995059	G	T	995059	3	4	46	1	0	0	0	0	1	0	0	0	99	1261	44	4	2282	4	ABR	17	995059	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		995059	80200151	14	885											
MYH8	4626	broad.mit.edu	37	chr17	10318635	10318635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggagttgtcattcctcaCagttttggcattgccaaagg	11	8	2	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:10318635C>T	uc002gmm.2	-	7	810	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	239	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATTCCTCACAGTTTTGGCA	0.478									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				60	85					0	0	1	0	0	T	10318635	C	T	10318635	3	4	46	1	0	0	0	0	1	0	0	0	10041	478	17	2	5230	2	MYH8	17	10318635	Missense_Mutation	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08	9323576	10318635	70876575	15	886											
MED1	5469	broad.mit.edu	37	chr17	37563979	37563979	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttcctttttgtgctTcttatgtttctctgtgctgt	6	9	3	0			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:37563979T>A	uc002hrv.4	-	16	4707	c.4495A>T	c.(4495-4497)Aag>Tag	p.K1499*	MED1_uc010wee.2_Nonsense_Mutation_p.K1327*|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1499	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTTTGTGCTTCTTATGTTTC	0.438										HNSCC(31;0.082)			4	35					0	0	1	0	0	A	37563979	T	A	37563979	4	1	46	1	0	0	0	0	0	1	0	0	9425	1792	62	5	254	5	MED1	17	37563979	Nonsense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08	27245344	37563979	43631231	16	887											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													3	100					0	0	1	0	0	G	9090831	A	G	9090831	2	3	46	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08		9090831	50038152	17	888											
MAST1	22983	broad.mit.edu	37	chr19	12962967	12962967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaccacctgctggaggcGgccgaaggacacgccaagga	13	13	1	0			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:12962967G>A	uc002mvm.3	+	8	1043	c.915G>A	c.(913-915)gcG>gcA	p.A305A	MAST1_uc021upp.1_Silent_p.A129A	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	305					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGCTGGAGGCGGCCGAAGGAC	0.652													7	170					0	0	1	0	0	A	12962967	G	A	12962967	2	1	46	1	0	0	0	0	0	0	0	1	9324	1103	39	1		1	MAST1	19	12962967	Silent	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	3872136	12962967	46166016	18	889											
SNRNP70	6625	broad.mit.edu	37	chr19	49589800	49589800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttattgtggcattgcgccGtacattcgagagtttgaggt	12	8	0	2			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:49589800G>A	uc002pmk.3	+	1	568	c.129G>A	c.(127-129)ccG>ccA	p.P43P	SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript	NM_003089	NP_003080	P08621	RU17_HUMAN	Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.	43					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GCATTGCGCCGTACATTCGAG	0.532													6	429					0	0	1	0	0	A	49589800	G	A	49589800	2	1	46	1	0	0	0	0	0	0	0	1	14858	1132	40	1		1	SNRNP70	19	49589800	Silent	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	36626833	49589800	9539183	19	890											
CABIN1	23523	broad.mit.edu	37	chr22	24445595	24445595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttggagaaggattgccGgtacagcaaagggctggtcc	15	8	0	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr22:24445595G>A	uc002zzi.1	+	6	696	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	CABIN1_uc021wnc.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R190Q|CABIN1_uc010guk.1_Missense_Mutation_p.R145Q|CABIN1_uc002zzk.2_Missense_Mutation_p.R145Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	190					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.R190L(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGGATTGCCGGTACAGCAAA	0.502													4	168					0	0	1	0	0	A	24445595	G	A	24445595	3	1	46	1	0	0	0	0	1	0	0	0	2528	1116	39	1	591	1	CABIN1	22	24445595	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		24445595	26858971	20	891											
MAGEA6	4105	broad.mit.edu	37	chrX	151869749	151869749	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcggaaattggcagtacttcTttcctgtgatcttcagcaaa	8	9	3	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:151869749T>A	uc004ffq.1	+	2	633	c.439T>A	c.(439-441)Ttt>Att	p.F147I	MAGEA6_uc004ffr.1_Missense_Mutation_p.F147I|MAGEA6_uc022chf.1_Missense_Mutation_p.F147I	NM_005363	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 1, mRNA.	147	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTACTTCTTTCCTGTGAT	0.527													4	197					0	0	1	0	0	A	151869749	T	A	151869749	3	1	46	1	0	0	0	0	1	0	0	0	9170	1609	56	5	441	5	MAGEA6	23	151869749	Missense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08		151869749	3400811	21	892											
L1CAM	3897	broad.mit.edu	37	chrX	153129444	153129444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaaccagccctcagtggcGaagccagcaggagggagcct	14	12	1	1			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:153129444G>A	uc004fjb.3	-	24	3459	c.3351C>T	c.(3349-3351)ttC>ttT	p.F1117F	L1CAM_uc004fjc.3_Silent_p.F1117F|L1CAM_uc010nuo.3_Silent_p.F1112F	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1117				GF -> WLC (in Ref. 11).	axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGTGGCGAAGCCAGCAG	0.632													3	51					0	0	1	0	0	A	153129444	G	A	153129444	2	1	46	1	0	0	0	0	0	0	0	1	8588	1049	37	1		1	L1CAM	23	153129444	Silent	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	1259695	153129444	2141116	22	893											
NRXN1	9378	broad.mit.edu	37	chr2	50765449	50765449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caatcacagacatatctgttCcacccatccctgcacatgcc	4	17	2	1			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr2:50765449C>A	uc021vhg.1	-	9	3126	c.2205G>T	c.(2203-2205)tgG>tgT	p.W735C	NRXN1_uc002rxb.4_Missense_Mutation_p.W367C|NRXN1_uc021vhh.1_Missense_Mutation_p.W695C|NRXN1_uc021vhi.1_Missense_Mutation_p.W731C|NRXN1_uc021vhj.1_Missense_Mutation_p.W691C|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.	695	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATATCTGTTCCACCCATCCC	0.488													9	197					0	0	1	0	0	A	50765449	C	A	50765449	3	1	47	1	0	0	0	0	1	0	0	0	10665	856	30	4	2757	4	NRXN1	2	50765449	Missense_Mutation	SNP	C	TCGA-CE-A482-01A-11D-A23U-08		50765449	192433924	1	894											
RAF1	5894	broad.mit.edu	37	chr3	12645671	12645671	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccacaggcagggtggtgctGaccatgtggacattaggtgt	15	8	0	1			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr3:12645671G>A	uc003bxf.4	-	6	1213	c.798C>T	c.(796-798)gtC>gtT	p.V266V	RAF1_uc011aut.2_Silent_p.V51V|RAF1_uc011auu.2_Silent_p.V184V	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	266					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GGGTGGTGCTGACCATGTGGA	0.517			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				7	78					0	0	1	0	0	A	12645671	G	A	12645671	2	1	47	1	0	0	0	0	0	0	0	1	13002	1277	45	2		2	RAF1	3	12645671	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		12645671	185376759	2	895											
GPR125	166647	broad.mit.edu	37	chr4	22517165	22517165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacagggtgaccgtgcgGttgggcagagtatctggggg	18	8	2	2			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr4:22517165G>A	uc003gqm.1	-	0	508	c.243C>T	c.(241-243)aaC>aaT	p.N81N	GPR125_uc003gqo.3_Silent_p.N81N	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	81					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGACCGTGCGGTTGGGCAGAG	0.687													4	12					0	0	1	0	0	A	22517165	G	A	22517165	2	1	47	1	0	0	0	0	0	0	0	1	6639	1252	44	2		2	GPR125	4	22517165	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		22517165	168637111	3	896											
LRGUK	136332	broad.mit.edu	37	chr7	133821786	133821786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttttacaggaggaatttgAtggggtcctgagagaggagg	16	3	0	3			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr7:133821786A>T	uc003vrm.1	+	1	324	c.308A>T	c.(307-309)gAt>gTt	p.D103V		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	103							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAGGAATTTGATGGGGTCCTG	0.428													9	16					0	0	1	0	0	T	133821786	A	T	133821786	3	4	47	1	0	0	0	0	1	0	0	0	8943	333	12	5	314	5	LRGUK	7	133821786	Missense_Mutation	SNP	A	TCGA-CE-A482-01A-11D-A23U-08		133821786	25316877	4	897											
DIP2C	22982	broad.mit.edu	37	chr10	375466	375466	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggactttgtactgactcacGgcaagaagccacaaggcggg	13	11	1	2			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr10:375466G>T	uc001ifp.3	-	29	3750	c.3660C>A	c.(3658-3660)gcC>gcA	p.A1220A		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1220						nucleus	catalytic activity|transcription factor binding	p.A1220A(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACTGACTCACGGCAAGAAGCC	0.562													9	20					0	0	1	0	0	T	375466	G	T	375466	2	4	47	1	0	0	0	0	0	0	0	1	4529	1103	39	4		4	DIP2C	10	375466	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		375466	135159281	5	898											
C10orf81	79949	broad.mit.edu	37	chr10	115540477	115540477	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagctggataagcctagactGaacagagctcccaagaggag	12	10	0	4			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr10:115540477G>A	uc009xyc.2	+	12	1729	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	C10orf81_uc001lar.2_3'UTR|C10orf81_uc001las.2_Silent_p.L346L|C10orf81_uc001lau.2_Silent_p.L262L|MIR4483_uc021pys.1_5'Flank|C10orf81_uc001lav.3_5'Flank	NM_001193434	NP_001180364	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 2, mRNA.	442										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		AGCCTAGACTGAACAGAGCTC	0.532													3	14					0	0	1	0	0	A	115540477	G	A	115540477	2	1	47	1	0	0	0	0	0	0	0	1	1619	1305	45	2		2	C10orf81	10	115540477	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08	115165011	115540477	19994270	6	899											
ZNF646	9726	broad.mit.edu	37	chr16	31092931	31092931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggaggggcctttcacCtgcccccattgtccccgcca	10	20	1	0			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr16:31092931C>T	uc002eap.3	+	1	5575	c.5286C>T	c.(5284-5286)acC>acT	p.T1762T	ZNF646_uc021tgu.1_Silent_p.T1762T	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGCCTTTCACCTGCCCCCATT	0.701													7	25					0	0	1	0	0	T	31092931	C	T	31092931	2	4	47	1	0	0	0	0	0	0	0	1	18059	668	24	2		2	ZNF646	16	31092931	Silent	SNP	C	TCGA-CE-A482-01A-11D-A23U-08		31092931	59261822	7	900											
TCEAL6	158931	broad.mit.edu	37	chrX	101396186	101396186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcgcattctgtcttccCctccgcgtctggcttttctt	6	17	4	0			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chrX:101396186C>T	uc004eiq.3	-	2	279	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	TCEAL6_uc022cas.1_Missense_Mutation_p.G40R	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	40	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						tctgtcttcccctccgcgtct	0.507													26	42					0	0	1	0	0	T	101396186	C	T	101396186	3	4	47	1	0	0	0	0	1	0	0	0	15672	623	22	2	437	2	TCEAL6	23	101396186	Missense_Mutation	SNP	C	TCGA-CE-A482-01A-11D-A23U-08		101396186	53874374	8	901											
PINK1	65018	broad.mit.edu	37	chr1	20975019	20975019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcccctggctggtgaTcgcagattttggctgctgcc	14	13	0	2			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:20975019T>C	uc001bdm.3	+	5	1239	c.1145T>C	c.(1144-1146)aTc>aCc	p.I382T	PINK1_uc001bdn.3_Missense_Mutation_p.I75T	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.	382	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCTGGTGATCGCAGATTTT	0.602													9	25					0	0	1	0	0	C	20975019	T	C	20975019	3	2	48	1	0	0	0	0	1	0	0	0	11932	1435	50	3	1167	3	PINK1	1	20975019	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08		20975019	228275602	1	902											
DPYD	1806	broad.mit.edu	37	chr1	97771737	97771737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcaagttcttaccttcCtttgcagctcttgcgatgct	7	12	3	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:97771737C>T	uc001drv.3	-	16	2312	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	725					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCTTACCTTCCTTTGCAGCTC	0.438													11	224					0	0	1	0	0	T	97771737	C	T	97771737	2	4	48	1	0	0	0	0	0	0	0	1	4745	680	24	2		2	DPYD	1	97771737	Silent	SNP	C	TCGA-CE-A484-01A-11D-A23U-08	76796718	97771737	151478884	2	903											
SH2D2A	9047	broad.mit.edu	37	chr1	156779137	156779137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatggcatagaaagctAtgggttcatcaggctcattg	12	9	3	1			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:156779137A>G	uc009wsh.2	-	6	1030	c.890T>C	c.(889-891)aTa>aCa	p.I297T	SH2D2A_uc001fqc.1_Missense_Mutation_p.I259T|SH2D2A_uc001fqd.2_Missense_Mutation_p.I287T|SH2D2A_uc001fqe.2_Missense_Mutation_p.I269T|SH2D2A_uc010phs.1_Missense_Mutation_p.I287T	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	287	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATAGAAAGCTATGGGTTCATC	0.612													8	123					0	0	1	0	0	G	156779137	A	G	156779137	3	3	48	1	0	0	0	0	1	0	0	0	14232	449	16	3	317	3	SH2D2A	1	156779137	Missense_Mutation	SNP	A	TCGA-CE-A484-01A-11D-A23U-08	59007400	156779137	92471484	3	904											
PPID	5481	broad.mit.edu	37	chr4	159644365	159644365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccgctcacctcgctcccCtccgatgtccacgtcaaaga	6	19	2	1			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr4:159644365C>T	uc003iqc.3	-	0	188	c.76G>A	c.(76-78)Ggg>Agg	p.G26R		NM_005038	NP_005029	Q08752	PPID_HUMAN	Homo sapiens peptidylprolyl isomerase D (PPID), mRNA.	26	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CCTCGCTCCCCTCCGATGTCC	0.632													17	12					0	0	1	0	0	T	159644365	C	T	159644365	3	4	48	1	0	0	0	0	1	0	0	0	12321	681	24	2	1076	2	PPID	4	159644365	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		159644365	31509911	4	905											
BDP1	55814	broad.mit.edu	37	chr5	70828156	70828156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaataactgtgaatgtcCcagatgtaggatgcatagct	10	6	0	3			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr5:70828156C>G	uc003kbp.1	+	25	6057	c.5794C>G	c.(5794-5796)Cca>Gca	p.P1932A	BDP1_uc003kbo.3_Missense_Mutation_p.P1932A|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1932					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTGAATGTCCCAGATGTAGG	0.338													12	14					0	0	1	0	0	G	70828156	C	G	70828156	3	3	48	1	0	0	0	0	1	0	0	0	1395	623	22	4	5896	4	BDP1	5	70828156	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		70828156	110087104	5	906											
HLA-C	3107	broad.mit.edu	37	chr6	31323335	31323335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggtggcctcatggtcagaGatggggtggtgggtcacgtg	20	6	3	1			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31323335G>A	uc003nth.2	-	3	708	c.654C>T	c.(652-654)atC>atT	p.I218I	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Silent_p.I97I|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	218	Alpha-3.|Ig-like C1-type.		V -> I (in allele Cw*05:03).		antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CATGGTCAGAGATGGGGTGGT	0.582													55	52					0	0	1	0	0	A	31323335	G	A	31323335	2	1	48	1	0	0	0	0	0	0	0	1	7197	932	33	2		2	HLA-C	6	31323335	Silent	SNP	G	TCGA-CE-A484-01A-11D-A23U-08		31323335	139791732	6	907											
MICALL2	79778	broad.mit.edu	37	chr7	1484922	1484922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaatccacacccatggCccctggctgtcgggggacca	12	16	0	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr7:1484922C>T	uc003skj.4	-	5	931	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	MICALL2_uc003ski.4_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	262						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACACCCATGGCCCCTGGCTGT	0.687													17	15					0	0	1	0	0	T	1484922	C	T	1484922	3	4	48	1	0	0	0	0	1	0	0	0	9574	739	26	2	1978	2	MICALL2	7	1484922	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		1484922	157653741	7	908											
KIAA0913	23053	broad.mit.edu	37	chr10	75557769	75557769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcccttggcctgcacaActttgtttctcccaactggc	7	14	1	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr10:75557769A>G	uc001jvj.3	+	18	4133	c.3878A>G	c.(3877-3879)aAc>aGc	p.N1293S	KIAA0913_uc001jve.3_Missense_Mutation_p.N1298S|KIAA0913_uc009xrl.3_Missense_Mutation_p.N1293S|KIAA0913_uc001jvf.3_Missense_Mutation_p.N1293S|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.N728S|KIAA0913_uc010qkr.2_Missense_Mutation_p.N716S|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1293							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					GGCCTGCACAACTTTGTTTCT	0.507													24	26					0	0	1	0	0	G	75557769	A	G	75557769	3	3	48	1	0	0	0	0	1	0	0	0	8200	43	2	3	3967	3	KIAA0913	10	75557769	Missense_Mutation	SNP	A	TCGA-CE-A484-01A-11D-A23U-08		75557769	59976978	8	909											
OR4D5	219875	broad.mit.edu	37	chr11	123810393	123810393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctcaggtttgggagcttCggtttgttttcttcactgtt	10	8	4	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr11:123810393C>T	uc001pzk.1	+	0	70	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGGGAGCTTCGGTTTGTTTT	0.468													40	39					0	0	1	0	0	T	123810393	C	T	123810393	3	4	48	1	0	0	0	0	1	0	0	0	11057	875	31	1	72	1	OR4D5	11	123810393	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		123810393	11196123	9	910											
INTS2	57508	broad.mit.edu	37	chr17	59989372	59989372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtaaggcatctgtcctgcGccttcctccaagactttctt	8	14	2	1			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr17:59989372G>A	uc002izn.3	-	5	809	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	INTS2_uc002izm.3_Missense_Mutation_p.R237C	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	245					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TCTGTCCTGCGCCTTCCTCCA	0.428													24	135					0	0	1	0	0	A	59989372	G	A	59989372	3	1	48	1	0	0	0	0	1	0	0	0	7778	1087	38	1	2961	1	INTS2	17	59989372	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08		59989372	21205838	10	911											
PSG2	5670	broad.mit.edu	37	chr19	43576025	43576025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtgccggtgggttagagTtcgcgaagcaagacaagtag	15	7	0	2			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr19:43576025T>C	uc002ovr.3	-	3	963	c.791A>G	c.(790-792)aAc>aGc	p.N264S	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	264	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263V(1)|p.A263A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGGGTTAGAGTTCGCGAAGCA	0.443													86	109					0	0	1	0	0	C	43576025	T	C	43576025	3	2	48	1	0	0	0	0	1	0	0	0	12655	1725	60	3	224	3	PSG2	19	43576025	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08		43576025	15552958	11	912											
CHEK2	11200	broad.mit.edu	37	chr22	29121000	29121000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagtgcaatttcagaaTtgttattcaaaggacggcgt	11	6	2	2			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr22:29121000T>C	uc003adt.1	-	4	758	c.686A>G	c.(685-687)aAt>aGt	p.N229S	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.N186S|CHEK2_uc003adu.1_Missense_Mutation_p.N186S|CHEK2_uc003adv.1_Missense_Mutation_p.N186S|CHEK2_uc003adx.1_5'UTR	NM_001005735	NP_001005735	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.	186	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AATTTCAGAATTGTTATTCAA	0.338			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	23					0	0	1	0	0	C	29121000	T	C	29121000	3	2	48	1	0	0	0	0	1	0	0	0	3335	1493	52	3	1122	3	CHEK2	22	29121000	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08		29121000	22183566	12	913											
MAGEB6	158809	broad.mit.edu	37	chrX	26212473	26212473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaatatgatgtggctgcCgagggtgaagatgaggaaag	15	4	1	4			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:26212473C>T	uc004dbr.3	+	1	659	c.510C>T	c.(508-510)gcC>gcT	p.A170A	MAGEB6_uc022buc.1_Silent_p.A170A	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	170										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGTGGCTGCCGAGGGTGAAG	0.517													11	65					0	0	1	0	0	T	26212473	C	T	26212473	2	4	48	1	0	0	0	0	0	0	0	1	9179	639	23	1		1	MAGEB6	23	26212473	Silent	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		26212473	129058087	13	914											
SRPX	8406	broad.mit.edu	37	chrX	38016255	38016255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagaagtgcagctgccGttctgacacccacattgacg	10	13	1	3	rs146651232	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:38016255G>A	uc004ddy.2	-	7	1115	c.983C>T	c.(982-984)aCg>aTg	p.T328M	SRPX_uc011mki.2_Missense_Mutation_p.T328M|SRPX_uc004ddz.2_Missense_Mutation_p.T308M|SRPX_uc011mkh.2_Missense_Mutation_p.T269M	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	328					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGCAGCTGCCGTTCTGACACC	0.498													22	34					0	0	1	0	0	A	38016255	G	A	38016255	3	1	48	1	0	0	0	0	1	0	0	0	15163	1145	40	1	423	1	SRPX	23	38016255	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	11803782	38016255	117254305	14	915											
TFE3	7030	broad.mit.edu	37	chrX	48888961	48888961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccagggatcgctgcCggctctccaggtctttggag	13	14	2	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:48888961C>T	uc004dmb.3	-	8	1473	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	TFE3_uc004dmc.3_Missense_Mutation_p.R307Q	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	412	Leucine-zipper.				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGATCGCTGCCGGCTCTCCAG	0.597			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								8	11					0	0	1	0	0	T	48888961	C	T	48888961	3	4	48	1	0	0	0	0	1	0	0	0	15797	652	23	1	500	1	TFE3	23	48888961	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08	10872706	48888961	106381599	15	916											
ZNF75D	7626	broad.mit.edu	37	chrX	134421632	134421632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccatttctgtacactgtGtgtatcaccaggattttccc	7	11	2	0			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:134421632G>A	uc022ceq.1	-	5	1360	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.H229Y	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	324					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T323A(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTACACTGTGTGTATCACCA	0.388													21	96					0	0	1	0	0	A	134421632	G	A	134421632	3	1	48	1	0	0	0	0	1	0	0	0	18131	1377	48	2	566	2	ZNF75D	23	134421632	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	85532671	134421632	20848928	16	917											
RASGRF2	5924	broad.mit.edu	37	chr5	80369069	80369069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaaatggaagaccatcGtgcaggattacatttgttct	11	6	1	1			TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr5:80369069G>A	uc003kha.2	+	4	735	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.V57M	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	229	IQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGACCATCGTGCAGGATTA	0.438													15	46					0	0	1	0	0	A	80369069	G	A	80369069	3	1	49	1	0	0	0	0	1	0	0	0	13073	1145	40	1	703	1	RASGRF2	5	80369069	Missense_Mutation	SNP	G	TCGA-CE-A485-01A-11D-A23U-08		80369069	100546191	1	918											
ZFPM2	23414	broad.mit.edu	37	chr8	106813356	106813356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgctgattccgtgatcaActttcaccaacacctgttct	5	14	3	2			TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr8:106813356A>G	uc003ymd.3	+	7	1069	c.1046A>G	c.(1045-1047)aAc>aGc	p.N349S	ZFPM2_uc011lhs.2_Missense_Mutation_p.N80S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	349					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCGTGATCAACTTTCACCAA	0.478													33	111					0	0	1	0	0	G	106813356	A	G	106813356	3	3	49	1	0	0	0	0	1	0	0	0	17655	43	2	3	1076	3	ZFPM2	8	106813356	Missense_Mutation	SNP	A	TCGA-CE-A485-01A-11D-A23U-08		106813356	39550666	2	919											
GYS2	2998	broad.mit.edu	37	chr12	21733368	21733368	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgagtcttcatattatgctCaaaatatggacctatcagaa	6	8	4	2			TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr12:21733368C>G	uc001rfb.3	-	1	466	c.211G>C	c.(211-213)Gag>Cag	p.E71Q		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	71					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATATTATGCTCAAAATATGGA	0.423													7	63					0	0	1	0	0	G	21733368	C	G	21733368	3	3	49	1	0	0	0	0	1	0	0	0	6913	835	29	4	1960	4	GYS2	12	21733368	Missense_Mutation	SNP	C	TCGA-CE-A485-01A-11D-A23U-08		21733368	112118527	3	920											
CNR2	1269	broad.mit.edu	37	chr1	24201264	24201264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacagcatggagcagaaagCaaaggccttcttgacctggt	12	10	1	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:24201264C>A	uc001bif.3	-	1	971	c.844G>T	c.(844-846)Gct>Tct	p.A282S	CNR2_uc021oij.1_Missense_Mutation_p.A282S	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	282					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	p.A282T(3)|p.A282A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GAGCAGAAAGCAAAGGCCTTC	0.577													23	57					0	0	1	0	0	A	24201264	C	A	24201264	3	1	50	1	0	0	0	0	1	0	0	0	3632	710	25	4	242	4	CNR2	1	24201264	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		24201264	225049357	1	921											
ZSCAN20	7579	broad.mit.edu	37	chr1	33959841	33959841	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgaaatgaggcatgaggatGaagaccagatttcagagcag	13	5	1	7			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:33959841G>C	uc001bxj.4	+	7	2064	c.1897G>C	c.(1897-1899)Gaa>Caa	p.E633Q	ZSCAN20_uc009vui.3_Missense_Mutation_p.E632Q	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	633					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCATGAGGATGAAGACCAGAT	0.438													13	40					0	0	1	0	0	C	33959841	G	C	33959841	3	2	50	1	0	0	0	0	1	0	0	0	18229	1291	45	4	1923	4	ZSCAN20	1	33959841	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	9758577	33959841	215290780	2	922											
CRP	1401	broad.mit.edu	37	chr1	159683629	159683629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactccacgatccctgaggCggactcccagcttgtacaaa	9	14	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:159683629C>T	uc001ftw.3	-	1	465	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	121	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	ATCCCTGAGGCGGACTCCCAG	0.502													41	184					0	0	1	0	0	T	159683629	C	T	159683629	3	4	50	1	0	0	0	0	1	0	0	0	3895	768	27	1	317	1	CRP	1	159683629	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	125723788	159683629	89566992	3	923											
DUSP27	92235	broad.mit.edu	37	chr1	167095889	167095889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagaggaggcggcagacagGagctcagaagcagggagcag	19	7	1	3			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:167095889G>A	uc001geb.1	+	4	1537	c.1521G>A	c.(1519-1521)agG>agA	p.R507R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	507					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGGCAGACAGGAGCTCAGAAG	0.597													22	51					0	0	1	0	0	A	167095889	G	A	167095889	2	1	50	1	0	0	0	0	0	0	0	1	4824	1165	41	2		2	DUSP27	1	167095889	Silent	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	7412260	167095889	82154732	4	924											
TARBP1	6894	broad.mit.edu	37	chr1	234569236	234569236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccagatagggttaccccTtttccacccaaccttcaaat	4	15	2	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:234569236T>C	uc001hwd.3	-	13	2314	c.2314A>G	c.(2314-2316)Agg>Ggg	p.R772G		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	772					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGGTTACCCCTTTTCCACCCA	0.398													3	63					0	0	1	0	0	C	234569236	T	C	234569236	3	2	50	1	0	0	0	0	1	0	0	0	15552	1608	56	3	2619	3	TARBP1	1	234569236	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	67473347	234569236	14681385	5	925											
OR2L13	284521	broad.mit.edu	37	chr1	248263052	248263052	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacgaccgttatttggccatCtgccactctctctattatcc	5	14	3	0			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:248263052C>T	uc001ids.3	+	2	712	c.375C>T	c.(373-375)atC>atT	p.I125I	OR2L13_uc021pmc.1_Silent_p.I125I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.A124D(1)|p.A124T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATTTGGCCATCTGCCACTCTC	0.502													4	216					0	0	1	0	0	T	248263052	C	T	248263052	2	4	50	1	0	0	0	0	0	0	0	1	11006	903	32	2		2	OR2L13	1	248263052	Silent	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	13693816	248263052	987569	6	926											
WIPF1	7456	broad.mit.edu	37	chr2	175446092	175446092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtcttctttagtttcttccCtttgctgatatcagaaagga	7	9	4	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr2:175446092C>A	uc010fqt.1	-	2	291	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.G43W|WIPF1_uc002ujc.1_Missense_Mutation_p.G43W|WIPF1_uc002uiz.3_Missense_Mutation_p.G43W|WIPF1_uc002ujb.2_Missense_Mutation_p.G43W|WIPF1_uc010zep.1_Missense_Mutation_p.G43W	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	43	WH2.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGTTTCTTCCCTTTGCTGATA	0.438													6	223					0	0	1	0	0	A	175446092	C	A	175446092	3	1	50	1	0	0	0	0	1	0	0	0	17364	681	24	4	1408	4	WIPF1	2	175446092	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		175446092	67753281	7	927											
COL3A1	1281	broad.mit.edu	37	chr2	189871146	189871146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcccacctggtcctgtcggtCcagctggaaagagtggtgac	14	12	0	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr2:189871146C>G	uc002uqj.1	+	42	3286	c.3169C>G	c.(3169-3171)Cca>Gca	p.P1057A		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1057	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGTCGGTCCAGCTGGAAA	0.488													4	25					0	0	1	0	0	G	189871146	C	G	189871146	3	3	50	1	0	0	0	0	1	0	0	0	3688	855	30	4	3339	4	COL3A1	2	189871146	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	14425054	189871146	53328227	8	928											
PLXNB1	5364	broad.mit.edu	37	chr3	48459614	48459614	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaaaccgagtggatgagggGcgctgggcactgggtggcca	18	9	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr3:48459614G>C	uc003csw.2	-	14	3478	c.3208C>G	c.(3208-3210)Ccc>Gcc	p.P1070A	PLXNB1_uc003csu.2_Missense_Mutation_p.P887A|PLXNB1_uc003csx.2_Missense_Mutation_p.P1070A|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1070	IPT/TIG 1.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGATGAGGGGCGCTGGGCAC	0.657													3	21					0	0	1	0	0	C	48459614	G	C	48459614	3	2	50	1	0	0	0	0	1	0	0	0	12123	1203	42	4	3295	4	PLXNB1	3	48459614	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		48459614	149562816	9	929											
XRN1	54464	broad.mit.edu	37	chr3	142133126	142133126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaaggtgcataatgataagGataatacctataaaacaaaa	7	4	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr3:142133126G>A	uc003eus.3	-	13	1511	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	XRN1_uc010huu.3_5'Flank|XRN1_uc003eut.3_Missense_Mutation_p.P482S|XRN1_uc003euu.3_Missense_Mutation_p.P482S|XRN1_uc003euv.1_Missense_Mutation_p.P343S	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	482					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAATGATAAGGATAATACCTA	0.294													27	51					0	0	1	0	0	A	142133126	G	A	142133126	3	1	50	1	0	0	0	0	1	0	0	0	17456	1174	41	2	3792	2	XRN1	3	142133126	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	93673512	142133126	55889304	10	930											
KDR	3791	broad.mit.edu	37	chr4	55964962	55964962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttccaagttcgtcttttCctgggcacctggaaagacac	9	11	1	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr4:55964962C>T	uc003has.3	-	15	2577	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	KDR_uc003hat.1_Missense_Mutation_p.E759K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	759					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCGTCTTTTCCTGGGCACCT	0.408			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			4	55					0	0	1	0	0	T	55964962	C	T	55964962	3	4	50	1	0	0	0	0	1	0	0	0	8139	864	30	2	1855	2	KDR	4	55964962	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		55964962	135189314	11	931											
MTTP	4547	broad.mit.edu	37	chr4	100504662	100504662	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacctacgctccttcatctAatccatggaaaggtaaaggg	9	10	2	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr4:100504662A>C	uc011cej.2	+	2	475	c.462A>C	c.(460-462)ctA>ctC	p.L154L	MTTP_uc003hvc.4_Silent_p.L127L|MTTP_uc003hvb.3_Silent_p.L127L	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	127	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCCTTCATCTAATCCATGGAA	0.388													4	78					0	0	1	0	0	C	100504662	A	C	100504662	2	2	50	1	0	0	0	0	0	0	0	1	9964	349	13	5		5	MTTP	4	100504662	Silent	SNP	A	TCGA-DE-A0XZ-01A-11D-A17V-08	44539700	100504662	90649614	12	932											
LARP1	23367	broad.mit.edu	37	chr5	154190917	154190918	+	Splice_Site	INS	-	-	T													gtgaaggactatgaagctggINStaagagccagagttggatct							TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr5:154190917_154190918insT	uc003lvo.3	+	17	2746	c.2722_splice	c.e17+1	p.G908_splice	LARP1_uc021ygh.1_Splice_Site_p.G780_splice	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	985							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TATGAAGCTGGTAAGAGCCAGA	0.49													24	44	---	---	---	---						T	154190918	-	T	154190917	8	5	50	1	0	1	1	0	0	0	1	0	8628	1275	44	0	2789	0	LARP1	5	154190917	Splice_Site	INS	-	TCGA-DE-A0XZ-01A-11D-A17V-08		154190917	26724343	13	933											
MDN1	23195	broad.mit.edu	37	chr6	90471411	90471411	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtcattttcatctgttGttgggcatggttgagtctaa	10	6	5	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr6:90471411G>C	uc003pnn.1	-	16	2529	c.2413C>G	c.(2413-2415)Caa>Gaa	p.Q805E	MDN1_uc003pno.1_Missense_Mutation_p.Q223E	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	805					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.Q804H(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATCTGTTGTTGGGCATGG	0.328													3	107					0	0	1	0	0	C	90471411	G	C	90471411	3	2	50	1	0	0	0	0	1	0	0	0	9415	1386	48	4	14721	4	MDN1	6	90471411	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		90471411	80643656	14	934											
RSBN1L	222194	broad.mit.edu	37	chr7	77408244	77408244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatcaaggaagaacctgTgaatgttaatattcctgaaa	8	5	1	4			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:77408244T>C	uc010ldt.1	+	7	2344	c.2300T>C	c.(2299-2301)gTg>gCg	p.V767A		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	767						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGAACCTGTGAATGTTAAT	0.308													4	34					0	0	1	0	0	C	77408244	T	C	77408244	3	2	50	1	0	0	0	0	1	0	0	0	13697	1696	59	3	2330	3	RSBN1L	7	77408244	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08		77408244	81730419	15	935											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432306	117432306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttttcatgtggtcagcaTtttctgtcactaggtctgtc	8	9	5	0			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:117432306T>C	uc003vjf.3	-	3	1036	c.944A>G	c.(943-945)aAt>aGt	p.N315S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	315										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTGGTCAGCATTTTCTGTCAC	0.473													5	243					0	0	1	0	0	C	117432306	T	C	117432306	3	2	50	1	0	0	0	0	1	0	0	0	4045	1493	52	3	4127	3	CTTNBP2	7	117432306	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	40024062	117432306	41706357	16	936											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	36					0	0	1	0	0	T	140453136	A	T	140453136	3	4	50	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A0XZ-01A-11D-A17V-08	23020830	140453136	18685527	17	937											
PDCD1LG2	80380	broad.mit.edu	37	chr9	5534909	5534909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaccgtgaaagagccActttgctggaggagcagctg	12	13	0	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr9:5534909A>G	uc011lmc.2	+	2	493	c.220A>G	c.(220-222)Act>Gct	p.T74A	PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_Missense_Mutation_p.T74A|PDCD1LG2_uc011lmd.2_Missense_Mutation_p.T74A|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.T74A|PDCD1LG2_uc010mho.1_Missense_Mutation_p.T74A	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA.	74	Ig-like V-type.				T cell costimulation|immune response	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TGAAAGAGCCACTTTGCTGGA	0.493													23	43					0	0	1	0	0	G	5534909	A	G	5534909	3	3	50	1	0	0	0	0	1	0	0	0	11618	159	6	3	226	3	PDCD1LG2	9	5534909	Missense_Mutation	SNP	A	TCGA-DE-A0XZ-01A-11D-A17V-08		5534909	135678522	18	938											
RXFP2	122042	broad.mit.edu	37	chr13	32371461	32371461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagagaggtggctgttgCaaatcgtttcttttttatag	12	4	1	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr13:32371461C>A	uc001utt.3	+	16	1981	c.1910C>A	c.(1909-1911)gCa>gAa	p.A637E	RXFP2_uc010aba.3_Missense_Mutation_p.A613E	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	637						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTGGCTGTTGCAAATCGTTTC	0.398													15	91					0	0	1	0	0	A	32371461	C	A	32371461	3	1	50	1	0	0	0	0	1	0	0	0	13760	710	25	4	1976	4	RXFP2	13	32371461	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		32371461	82798417	19	939											
DUOX2	50506	broad.mit.edu	37	chr15	45392355	45392355	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtactgctgcagctttTgggctaggaagcctcgctgc	13	11	0	0			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr15:45392355T>G	uc001zun.3	-	23	3280	c.3077A>C	c.(3076-3078)cAa>cCa	p.Q1026P	DUOX2_uc010bea.3_Missense_Mutation_p.Q1026P	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1026	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGCAGCTTTTGGGCTAGGAA	0.587													3	78					0	0	1	0	0	G	45392355	T	G	45392355	3	3	50	1	0	0	0	0	1	0	0	0	4801	1812	63	5	1613	5	DUOX2	15	45392355	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08		45392355	57139037	20	940											
ADAT1	23536	broad.mit.edu	37	chr16	75634205	75634205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttcctggtaagaggacGcagcctccttgtactcctgg	12	12	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr16:75634205G>A	uc002feo.2	-	10	1587	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	ADAT1_uc002fep.2_Missense_Mutation_p.A324V	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	473	A to I editase.				tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity	p.A473V(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GTAAGAGGACGCAGCCTCCTT	0.532													31	72					0	0	1	0	0	A	75634205	G	A	75634205	3	1	50	1	0	0	0	0	1	0	0	0	284	1087	38	1	94	1	ADAT1	16	75634205	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		75634205	14720548	21	941											
HDAC5	10014	broad.mit.edu	37	chr17	42169608	42169608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggtgctgtgggagctgttggGagagctggggccggagccgg	23	7	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:42169608G>C	uc002iff.1	-	8	1299	c.967C>G	c.(967-969)Ccc>Gcc	p.P323A	HDAC5_uc002ifd.1_Missense_Mutation_p.P322A|HDAC5_uc002ife.1_Missense_Mutation_p.P322A|HDAC5_uc010czp.1_Missense_Mutation_p.P322A|HDAC5_uc002ifh.2_Missense_Mutation_p.P322A	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	322					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GAGCTGTTGGGAGAGCTGGGG	0.642													3	97					0	0	1	0	0	C	42169608	G	C	42169608	3	2	50	1	0	0	0	0	1	0	0	0	7010	1174	41	4	2480	4	HDAC5	17	42169608	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		42169608	39025602	22	942											
EVPL	2125	broad.mit.edu	37	chr17	74003919	74003919	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatagagccgatggagagTgaggagcttggcttggtctc	16	6	1	4			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:74003919T>C	uc010wss.1	-	21	5661	c.5433A>G	c.(5431-5433)tcA>tcG	p.S1811S	EVPL_uc002jqi.2_Silent_p.S1789S|EVPL_uc010wst.1_Silent_p.S1259S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1789	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGATGGAGAGTGAGGAGCTTG	0.607													4	74					0	0	1	0	0	C	74003919	T	C	74003919	2	2	50	1	0	0	0	0	0	0	0	1	5292	1683	59	3		3	EVPL	17	74003919	Silent	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	31834311	74003919	7191291	23	943											
SLC25A10	1468	broad.mit.edu	37	chr17	79683052	79683052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaggatgcagaacgacGtgaagctgccccagggtcag	14	10	2	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:79683052G>A	uc010wut.2	+	8	988	c.856G>A	c.(856-858)Gtg>Atg	p.V286M	SLC25A10_uc002kbi.3_Missense_Mutation_p.V131M|SLC25A10_uc010dif.3_Missense_Mutation_p.V131M|SLC25A10_uc010wuu.2_Missense_Mutation_p.V85M	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	131					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GCAGAACGACGTGAAGCTGCC	0.701													7	14					0	0	1	0	0	A	79683052	G	A	79683052	3	1	50	1	0	0	0	0	1	0	0	0	14472	1145	40	1	409	1	SLC25A10	17	79683052	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	5679133	79683052	1512158	24	944											
SALL3	27164	broad.mit.edu	37	chr18	76754115	76754115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggggagcggccgttcaaGtgcaagatctgcggccgcgc	17	12	2	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr18:76754115G>A	uc002lmt.3	+	1	2124	c.2124G>A	c.(2122-2124)aaG>aaA	p.K708K	SALL3_uc010dra.3_Silent_p.K315K	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCCGTTCAAGTGCAAGATCT	0.667													27	37					0	0	1	0	0	A	76754115	G	A	76754115	2	1	50	1	0	0	0	0	0	0	0	1	13812	1020	36	2		2	SALL3	18	76754115	Silent	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		76754115	1323133	25	945											
PLIN5	440503	broad.mit.edu	37	chr19	4523617	4523617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctcgcagatgtcccCggcaacacccatcctgtccc	7	19	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:4523617C>G	uc002mas.3	-	7	1368	c.1315G>C	c.(1315-1317)Ggg>Cgg	p.G439R		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	439						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CAGATGTCCCCGGCAACACCC	0.692											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	76	157					0	0	1	0	0	G	4523617	C	G	4523617	3	3	50	1	0	0	0	0	1	0	0	0	12093	652	23	4	80	4	PLIN5	19	4523617	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		4523617	54605366	26	946											
KIR3DL2	3812	broad.mit.edu	37	chr19	55341608	55341608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcacagttggatcactgcGttttcacacagagaaaaatc	8	10	2	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:55341608G>A	uc021vbm.1	+	8	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010esf.3_Missense_Mutation_p.V310I|KIR3DL2_uc021vbo.1_Missense_Mutation_p.V388I|KIR3DL2_uc002qhk.4_Missense_Mutation_p.V405I|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_5'Flank|KIR3DL2_uc002qhm.1_5'Flank	NM_013289	NP_037421	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	405					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCACACA	0.507													93	152					0	0	1	0	0	A	55341608	G	A	55341608	3	1	50	1	0	0	0	0	1	0	0	0	8321	1145	40	1		1	KIR3DL2	19	55341608	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	50817991	55341608	3787375	27	947											
CCDC106	29903	broad.mit.edu	37	chr19	56160648	56160648	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acccacagatcttttacagtCtgagcccctctcggagaaac	7	14	3	3			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:56160648C>G	uc002qlr.3	+	2	844	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V	CCDC106_uc021vcc.1_Missense_Mutation_p.L37V|CCDC106_uc021vcd.1_Missense_Mutation_p.L37V|CCDC106_uc002qls.3_Missense_Mutation_p.L37V	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	Homo sapiens coiled-coil domain containing 106 (CCDC106), mRNA.	37						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTTTTACAGTCTGAGCCCCTC	0.592													3	150					0	0	1	0	0	G	56160648	C	G	56160648	3	3	50	1	0	0	0	0	1	0	0	0	2741	912	32	4	115	4	CCDC106	19	56160648	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	819040	56160648	2968335	28	948											
ZBED1	9189	broad.mit.edu	37	chrX	2407561	2407561	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgcttgaagggctgcagGagctccaccagcccctcgat	11	15	0	1			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chrX:2407561G>A	uc004cqh.2	-	1	1482	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqg.2_Silent_p.L400L|ZBED1_uc022brw.1_Silent_p.L400L|ZBED1_uc022brx.1_Silent_p.L400L	NM_001171135	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 3, mRNA.	400						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGCTGCAGGAGCTCCACCA	0.637													17	63					0	0	1	0	0	A	2407561	G	A	2407561	2	1	50	1	0	0	0	0	0	0	0	1	17514	1161	41	2		2	ZBED1	23	2407561	Silent	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		2407561	152862999	29	949											
TCEAL3	85012	broad.mit.edu	37	chrX	102864558	102864558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtgaggggtggaggtaGgggccagaggggcttacacg	23	5	0	2			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chrX:102864558G>A	uc004ekq.3	+	2	828	c.566G>A	c.(565-567)aGg>aAg	p.R189K	TCEAL3_uc004ekr.3_Missense_Mutation_p.R189K|TCEAL3_uc022cbu.1_Missense_Mutation_p.R189K	NM_001006933	NP_116315	Q969E4	TCAL3_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 1, mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GGTGGAGGTAGGGGCCAGAGG	0.507													12	190					0	0	1	0	0	A	102864558	G	A	102864558	3	1	50	1	0	0	0	0	1	0	0	0	15669	1000	35	2	568	2	TCEAL3	23	102864558	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	100456997	102864558	52406002	30	950											
TGFBR3	7049	broad.mit.edu	37	chr1	92200373	92200373	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcttgctatcttgagTtcggtgaatgaagtaactgc	10	6	2	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:92200373T>C	uc001doh.3	-	4	1043	c.528A>G	c.(526-528)gaA>gaG	p.E176E	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Silent_p.E134E|TGFBR3_uc001doi.3_Silent_p.E176E|TGFBR3_uc001doj.3_Silent_p.E176E	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	176					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTATCTTGAGTTCGGTGAATG	0.378													13	308					0	0	1	0	0	C	92200373	T	C	92200373	2	2	51	1	0	0	0	0	0	0	0	1	15820	1722	60	3		3	TGFBR3	1	92200373	Silent	SNP	T	TCGA-DE-A0Y2-01A-11D-A10S-08		92200373	157050248	1	951											
OVGP1	5016	broad.mit.edu	37	chr1	111965622	111965622	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacagcagcagacagcagcaGcctcgggcgcatggtgagca	14	12	0	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:111965622G>C	uc001eba.3	-	5	591	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	OVGP1_uc001eaz.3_Missense_Mutation_p.L141V|OVGP1_uc010owb.2_5'UTR	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	179					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACAGCAGCAGCCTCGGGCGC	0.542													110	106					0	0	1	0	0	C	111965622	G	C	111965622	3	2	51	1	0	0	0	0	1	0	0	0	11325	962	34	4	1525	4	OVGP1	1	111965622	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	19765249	111965622	137284999	2	952											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933458	209933458	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctatgaggccaagtgtgagcGcaggcaagagatccgtgaaa	14	8	0	4			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:209933458G>C	uc001hho.3	+	2	494	c.74G>C	c.(73-75)cGc>cCc	p.R25P	TRAF3IP3_uc001hhm.2_Missense_Mutation_p.R25P|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.R25P|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.R25P	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	25						integral to membrane	protein binding	p.R25C(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGTGTGAGCGCAGGCAAGAG	0.627													4	49					0	0	1	0	0	C	209933458	G	C	209933458	3	2	51	1	0	0	0	0	1	0	0	0	16439	1087	38	4	76	4	TRAF3IP3	1	209933458	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	97967836	209933458	39317163	3	953											
FAM84A	151354	broad.mit.edu	37	chr2	14774447	14774447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtctacgcggtcaccgCgctgccagcgctctgcgaac	12	16	3	0			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr2:14774447C>T	uc002rbz.2	+	1	632	c.344C>T	c.(343-345)gCg>gTg	p.A115V	FAM84A_uc021ved.1_Missense_Mutation_p.A115V|AX747684_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA.	115										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GCGGTCACCGCGCTGCCAGCG	0.692													5	14					0	0	1	0	0	T	14774447	C	T	14774447	3	4	51	1	0	0	0	0	1	0	0	0	5641	768	27	1	346	1	FAM84A	2	14774447	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		14774447	228424926	4	954											
LMAN2L	81562	broad.mit.edu	37	chr2	97405604	97405604	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctcaccctggtagggcttCgacagcgagtgctcccgttt	12	14	1	0			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr2:97405604C>T	uc002swv.3	-	0	210	c.174G>A	c.(172-174)tcG>tcA	p.S58S	LMAN2L_uc002swu.3_Silent_p.S58S|LMAN2L_uc010yuu.2_5'UTR|LMAN2L_uc010yut.2_5'UTR|LMAN2L_uc010yuv.2_5'UTR|LMAN2L_uc010yuw.2_5'UTR|LMAN2L_uc010yux.2_5'UTR	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	58	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GGTAGGGCTTCGACAGCGAGT	0.627													33	51					0	0	1	0	0	T	97405604	C	T	97405604	2	4	51	1	0	0	0	0	0	0	0	1	8839	871	31	1		1	LMAN2L	2	97405604	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	82631157	97405604	145793769	5	955											
DGKG	1608	broad.mit.edu	37	chr3	185929649	185929649	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtctccgaggtgccaaattCaaagtaccacagcttgttct	8	11	3	0			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr3:185929649C>A	uc003fqa.3	-	20	2389	c.1852G>T	c.(1852-1854)Gaa>Taa	p.E618*	DGKG_uc003fqb.3_Nonsense_Mutation_p.E579*|DGKG_uc003fqc.3_Nonsense_Mutation_p.E593*|DGKG_uc011brx.2_Nonsense_Mutation_p.E559*	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	618					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTGCCAAATTCAAAGTACCAC	0.453													4	100					0	0	1	0	0	A	185929649	C	A	185929649	4	1	51	1	0	0	0	0	0	1	0	0	4469	835	29	4	543	4	DGKG	3	185929649	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		185929649	12092781	6	956											
RIOK2	55781	broad.mit.edu	37	chr5	96498929	96498929	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccttctgtttcaccagttCctggaaagatttcataaatt	5	10	3	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr5:96498929C>T	uc003kmz.3	-	10	1605	c.1495_splice	c.e10-1	p.E499_splice		NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	499	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTCACCAGTTCCTGGAAAGAT	0.328													39	49					0	0	1	0	0	T	96498929	C	T	96498929	5	4	51	1	0	0	0	0	0	0	1	0	13378	869	30	2	167	2	RIOK2	5	96498929	Splice_Site	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		96498929	84416331	7	957											
THEMIS	387357	broad.mit.edu	37	chr6	128134235	128134238	+	Frame_Shift_Del	DEL	ACTA	ACTA	-													tctgcatccctagagaaattActaactaactgaacagtcat					rs150659844		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr6:128134235_128134238delACTA	uc011ebt.2	-	3	1697_1700	c.1548_1551delTAGT	c.(1546-1551)gttagtfs	p.V516fs	THEMIS_uc010kfa.3_Frame_Shift_Del_p.V419fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.V516fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.V481fs	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	516	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAGAGAAATTACTAACTAACTGAA	0.441													50	76	---	---	---	---						-	128134238	ACTA	-	128134235	7	5	51	1	0	1	0	1	0	0	0	0	15857	388	14	0	507	0	THEMIS	6	128134235	Frame_Shift_Del	DEL	ACTA	TCGA-DE-A0Y2-01A-11D-A10S-08		128134235	42980832	8	958											
MOS	4342	broad.mit.edu	37	chr8	57026479	57026479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggactgctgcagggccgCgcgtccaccgatggggaaaa	17	11	0	0			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr8:57026479C>T	uc011leb.2	-	0	63	c.63G>A	c.(61-63)gcG>gcA	p.A21A		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	21							ATP binding|protein binding|protein serine/threonine kinase activity	p.A21A(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGCAGGGCCGCGCGTCCACCG	0.706													23	36					0	0	1	0	0	T	57026479	C	T	57026479	2	4	51	1	0	0	0	0	0	0	0	1	9712	755	27	1		1	MOS	8	57026479	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		57026479	89337543	9	959											
PLEC	5339	broad.mit.edu	37	chr8	145009091	145009091	+	Frame_Shift_Del	DEL	G	G	-													gtactcctgccagcgcagctGcagctcctgcgggcaggcac					rs137853160		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr8:145009091delG	uc003zaf.1	-	8	1413	c.1243delC	c.(1243-1245)cagfs	p.Q415fs	PLEC_uc003zab.1_Frame_Shift_Del_p.Q278fs|PLEC_uc003zac.1_Frame_Shift_Del_p.Q282fs|PLEC_uc003zad.2_Frame_Shift_Del_p.Q278fs|PLEC_uc003zae.1_Frame_Shift_Del_p.Q246fs|PLEC_uc003zag.1_Frame_Shift_Del_p.Q256fs|PLEC_uc003zah.2_Frame_Shift_Del_p.Q264fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.Q305fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	415	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCGCAGCTGCAGCTCCTGC	0.706													19	31	---	---	---	---						-	145009091	G	-	145009091	7	5	51	1	0	1	0	1	0	0	0	0	12052	1328	46	0	12907	0	PLEC	8	145009091	Frame_Shift_Del	DEL	G	TCGA-DE-A0Y2-01A-11D-A10S-08	87982612	145009091	1354931	10	960											
ZFAND5	7763	broad.mit.edu	37	chr9	74971943	74971943	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actctgagaagtactgggctGagaaactgatggactgggct	14	7	1	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:74971943G>A	uc010moy.1	-	4	678	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	ZFAND5_uc010mox.1_Nonsense_Mutation_p.Q30*|ZFAND5_uc004aix.2_Nonsense_Mutation_p.Q133*|ZFAND5_uc004aiw.2_Nonsense_Mutation_p.Q133*|ZFAND5_uc004aiy.2_Nonsense_Mutation_p.Q133*	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	Homo sapiens zinc finger, AN1-type domain 5 (ZFAND5), transcript variant c, mRNA.	133							DNA binding|zinc ion binding	p.Q133*(2)|p.Q133Q(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTACTGGGCTGAGAAACTGAT	0.383													35	51					0	0	1	0	0	A	74971943	G	A	74971943	4	1	51	1	0	0	0	0	0	1	0	0	17627	1299	45	2	252	2	ZFAND5	9	74971943	Nonsense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08		74971943	66241488	11	961											
TDRD7	23424	broad.mit.edu	37	chr9	100245294	100245294	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catatccagtggagctgactCtcccaacagcaaaaatggca	8	12	1	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:100245294C>T	uc004axj.3	+	14	2801	c.2576C>T	c.(2575-2577)tCt>tTt	p.S859F	TDRD7_uc011lux.2_Missense_Mutation_p.S785F|TDRD7_uc010msp.1_Missense_Mutation_p.S111F|TDRD7_uc011luy.2_Missense_Mutation_p.S179F	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	859					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GGAGCTGACTCTCCCAACAGC	0.463													40	51					0	0	1	0	0	T	100245294	C	T	100245294	3	4	51	1	0	0	0	0	1	0	0	0	15732	913	32	2	2630	2	TDRD7	9	100245294	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	25273351	100245294	40968137	12	962											
SARDH	1757	broad.mit.edu	37	chr9	136529067	136529067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggcgacttcaggtgagCctgggcaccataggtcaccc	14	12	2	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:136529067C>T	uc004cep.4	-	20	2835	c.2701G>A	c.(2701-2703)Gct>Act	p.A901T	SARDH_uc004ceo.3_Missense_Mutation_p.A901T|SARDH_uc011mdo.2_Missense_Mutation_p.A733T|SARDH_uc011mdn.2_Missense_Mutation_p.A901T|SARDH_uc004cen.3_Missense_Mutation_p.A351T	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	901					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TTCAGGTGAGCCTGGGCACCA	0.577													7	140					0	0	1	0	0	T	136529067	C	T	136529067	3	4	51	1	0	0	0	0	1	0	0	0	13841	739	26	2	59	2	SARDH	9	136529067	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	36283773	136529067	4684364	13	963											
FBXO18	84893	broad.mit.edu	37	chr10	5948520	5948520	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaggcacgtgtttgccttCctcccggtggaagacctcta	11	13	1	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:5948520C>T	uc001iit.3	+	3	935	c.831C>T	c.(829-831)ttC>ttT	p.F277F	FBXO18_uc001iir.3_Silent_p.F152F|FBXO18_uc001iis.3_Silent_p.F226F|FBXO18_uc009xig.3_Silent_p.F152F	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	226					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGTTTGCCTTCCTCCCGGTGG	0.572													7	142					0	0	1	0	0	T	5948520	C	T	5948520	2	4	51	1	0	0	0	0	0	0	0	1	5731	854	30	2		2	FBXO18	10	5948520	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		5948520	129586227	14	964											
JMJD1C	221037	broad.mit.edu	37	chr10	64967027	64967027	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagaacccagaactgggttGaacaacacttcctgtcttac	8	11	1	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:64967027G>A	uc001jmn.3	-	9	4702	c.4402C>T	c.(4402-4404)Caa>Taa	p.Q1468*	JMJD1C_uc001jml.3_Nonsense_Mutation_p.Q1249*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.Q1180*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.Q1286*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.Q1286*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q505*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1468					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GAACTGGGTTGAACAACACTT	0.433													76	98					0	0	1	0	0	A	64967027	G	A	64967027	4	1	51	1	0	0	0	0	0	1	0	0	7950	1299	45	2	3288	2	JMJD1C	10	64967027	Nonsense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	59018507	64967027	70567720	15	965											
LPAR6	10161	broad.mit.edu	37	chr13	48985608	48985608	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attctctgcaccatgaacttCagagaatctgaagtcacttc	6	11	4	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr13:48985608C>T	uc010acu.3	-	0	2046	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RB1_uc001vcb.3_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.3_Missense_Mutation_p.E318K|LPAR6_uc001vcf.3_Missense_Mutation_p.E318K	NM_001162498	NP_005758	P43657	LPAR6_HUMAN	Homo sapiens lysophosphatidic acid receptor 6 (LPAR6), transcript variant 3, mRNA.	318						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						CCATGAACTTCAGAGAATCTG	0.343													66	87					0	0	1	0	0	T	48985608	C	T	48985608	3	4	51	1	0	0	0	0	1	0	0	0	8909	835	29	2	86	2	LPAR6	13	48985608	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		48985608	66184270	16	966											
TGDS	23483	broad.mit.edu	37	chr13	95248340	95248340	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggtcaccaggacccgcttCgcaaagccgccgggaagacc	12	17	1	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr13:95248340C>T	uc001vlw.3	-	0	172	c.51G>A	c.(49-51)gcG>gcA	p.A17A		NM_014305	NP_055120	O95455	TGDS_HUMAN	Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA.	17					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GGACCCGCTTCGCAAAGCCGC	0.607													23	25					0	0	1	0	0	T	95248340	C	T	95248340	2	4	51	1	0	0	0	0	0	0	0	1	15811	871	31	1		1	TGDS	13	95248340	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	46262732	95248340	19921538	17	967											
POMT2	29954	broad.mit.edu	37	chr14	77778315	77778315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcccaggggcgggtgcacatCaaagaaaaatgtacggttga	13	8	1	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr14:77778315C>G	uc001xti.2	-	1	511	c.310G>C	c.(310-312)Gat>Cat	p.D104H	POMT2_uc010asr.2_Intron	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	104					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGGTGCACATCAAAGAAAAAT	0.433													15	41					0	0	1	0	0	G	77778315	C	G	77778315	3	3	51	1	0	0	0	0	1	0	0	0	12246	826	29	4	2022	4	POMT2	14	77778315	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		77778315	29571225	18	968			1	5		2	2	53	C		4.199317e-05
POMT2	29954	broad.mit.edu	37	chr14	77778367	77778367	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccatttttccaaagtgagtCtcatcccaactaaaggaaac	5	12	1	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr14:77778367C>T	uc001xti.2	-	1	459	c.258G>A	c.(256-258)gaG>gaA	p.E86E	POMT2_uc010asr.2_Intron	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	86					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CAAAGTGAGTCTCATCCCAAC	0.373													20	36					0	0	1	0	0	T	77778367	C	T	77778367	2	4	51	1	0	0	0	0	0	0	0	1	12246	912	32	2		2	POMT2	14	77778367	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	52	77778367	29571173	19	969			1	5		2	2	53	C		4.199317e-05
ATP10A	57194	broad.mit.edu	37	chr15	26107935	26107935	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggccgggctggaaggcgttCaccgccggcacgaagttgag	17	11	1	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr15:26107935C>T	uc010ayu.3	-	0	415	c.309G>A	c.(307-309)gtG>gtA	p.V103V	ATP10A_uc001zax.3_Non-coding_Transcript	NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	103					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGGCGTTCACCGCCGGCA	0.652													6	14					0	0	1	0	0	T	26107935	C	T	26107935	2	4	51	1	0	0	0	0	0	0	0	1	1116	813	29	2		2	ATP10A	15	26107935	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		26107935	76423457	20	970											
VAPA	9218	broad.mit.edu	37	chr18	9950521	9950521	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaagagtgtaaaagacttCagggagaaatgatgaagcta	13	3	1	5			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr18:9950521C>T	uc002koj.3	+	5	981	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	VAPA_uc002kok.3_Nonsense_Mutation_p.Q183*	NM_003574	NP_003565	Q9P0L0	VAPA_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa (VAPA), transcript variant 1, mRNA.	183					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						TAAAAGACTTCAGGGAGAAAT	0.378													47	41					0	0	1	0	0	T	9950521	C	T	9950521	4	4	51	1	0	0	0	0	0	1	0	0	17118	827	29	2	704	2	VAPA	18	9950521	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		9950521	68126727	21	971											
RPRD1A	55197	broad.mit.edu	37	chr18	33606928	33606928	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaaatctgctaacattcGagtgagttgctttctatcat	7	7	3	2			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr18:33606928G>A	uc002kzg.3	-	5	730	c.724C>T	c.(724-726)Cga>Tga	p.R242*	RPRD1A_uc002kze.1_Nonsense_Mutation_p.R206*|RPRD1A_uc010dmw.3_Nonsense_Mutation_p.R206*|RPRD1A_uc010dmx.3_Nonsense_Mutation_p.R242*	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.	242								p.R242R(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTAACATTCGAGTGAGTTGC	0.403													6	98					0	0	1	0	0	A	33606928	G	A	33606928	4	1	51	1	0	0	0	0	0	1	0	0	13615	1066	37	1	222	1	RPRD1A	18	33606928	Nonsense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	23656407	33606928	44470320	22	972											
DOCK6	57572	broad.mit.edu	37	chr19	11333436	11333436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtggaggacacagagGgggagggcgaggctggaggt	24	4	0	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:11333436G>C	uc002mqs.4	-	25	3256	c.3215C>G	c.(3214-3216)cCc>cGc	p.P1072R	DOCK6_uc010xlq.2_Missense_Mutation_p.P411R	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1072					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGACACAGAGGGGGAGGGCGA	0.612													3	3					0	0	1	0	0	C	11333436	G	C	11333436	3	2	51	1	0	0	0	0	1	0	0	0	4691	1232	43	4	3020	4	DOCK6	19	11333436	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08		11333436	47795547	23	973											
ZNF709	163051	broad.mit.edu	37	chr19	12637690	12637690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgtgagttctttcgTgtatttgaaatgaactggga	11	6	1	3			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:12637690T>A	uc002mty.3	-	3	1442	c.1232A>T	c.(1231-1233)cAc>cTc	p.H411L	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTTCTTTCGTGTATTTGAAA	0.408													26	246					0	0	1	0	0	A	12637690	T	A	12637690	3	1	51	1	0	0	0	0	1	0	0	0	18110	1696	59	5		5	ZNF709	19	12637690	Missense_Mutation	SNP	T	TCGA-DE-A0Y2-01A-11D-A10S-08	1304254	12637690	46491293	24	974											
SPIB	6689	broad.mit.edu	37	chr19	50931366	50931366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggacatgcgtgagtgcGtgtggtgggtggagccaggc	22	7	0	1			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:50931366G>A	uc002psd.3	+	5	587	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	SPIB_uc021uyc.1_Missense_Mutation_p.V157M|SPIB_uc002pse.3_3'UTR|SPIB_uc010ycc.2_Missense_Mutation_p.V97M	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	188					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCGTGAGTGCGTGTGGTGGGT	0.682													3	3					0	0	1	0	0	A	50931366	G	A	50931366	3	1	51	1	0	0	0	0	1	0	0	0	15049	1145	40	1	584	1	SPIB	19	50931366	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	38293676	50931366	8197617	25	975											
TREX1	11277	broad.mit.edu	37	chr3	48508560	48508560	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagcgagcaagcagcccctCagaacacggcccaaggaaga	13	13	1	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr3:48508560C>G	uc003ctj.3	+	1	1928	c.671C>G	c.(670-672)tCa>tGa	p.S224*	TREX1_uc010hjy.3_Nonsense_Mutation_p.S169*|TREX1_uc010hjz.3_Nonsense_Mutation_p.S169*|TREX1_uc003ctk.3_Nonsense_Mutation_p.S30*|TREX1_uc010hka.3_Nonsense_Mutation_p.S224*	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	224					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGCAGCCCCTCAGAACACGGC	0.612													3	99					0	0	1	0	0	G	48508560	C	G	48508560	4	3	52	1	0	0	0	0	0	1	0	0	16473	838	29	4	673	4	TREX1	3	48508560	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		48508560	149513870	1	976											
SLC6A18	348932	broad.mit.edu	37	chr5	1232375	1232375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgcgctggtcttcgagGggatccccattttccacgtc	10	14	2	0			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1232375G>A	uc003jby.2	+	1	325	c.202G>A	c.(202-204)Ggg>Agg	p.G68R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	68					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTCTTCGAGGGGATCCCCAT	0.687													20	16					0	0	1	0	0	A	1232375	G	A	1232375	3	1	52	1	0	0	0	0	1	0	0	0	14681	1232	43	2	208	2	SLC6A18	5	1232375	Missense_Mutation	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		1232375	179682885	2	977											
SLC6A3	6531	broad.mit.edu	37	chr5	1443103	1443103	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcaaagccaatgacggacagGagaaagtcgatcttcttgcc	11	10	2	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1443103G>C	uc003jck.3	-	1	336	c.210C>G	c.(208-210)ctC>ctG	p.L70L		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	70					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGACGGACAGGAGAAAGTCGA	0.612													4	121					0	0	1	0	0	C	1443103	G	C	1443103	2	2	52	1	0	0	0	0	0	0	0	1	14685	1161	41	4		4	SLC6A3	5	1443103	Silent	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08	210728	1443103	179472157	3	978											
DNAJC21	134218	broad.mit.edu	37	chr5	34954066	34954066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaaaaccaaagataTgaaaaaacctgtcagagtac	8	6	1	4			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:34954066T>C	uc003jjb.3	+	11	1756	c.1529T>C	c.(1528-1530)aTg>aCg	p.M510T	DNAJC21_uc003jjc.3_Missense_Mutation_p.M465T|DNAJC21_uc010iuu.1_Missense_Mutation_p.M362T	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	465					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACCAAAGATATGAAAAAACCT	0.318													4	127					0	0	1	0	0	C	34954066	T	C	34954066	3	2	52	1	0	0	0	0	1	0	0	0	4640	1464	51	3	1575	3	DNAJC21	5	34954066	Missense_Mutation	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08	33510963	34954066	145961194	4	979											
PCSK1	5122	broad.mit.edu	37	chr5	95748058	95748058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaagccttctgggctagCcggccaggcccctccacagt	10	16	2	0			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:95748058C>T	uc003kls.2	-	6	1085	c.846G>A	c.(844-846)cgG>cgA	p.R282R	PCSK1_uc010jbi.2_Silent_p.R43R|PCSK1_uc021ybq.1_Silent_p.R235R	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	282	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGGGCTAGCCGGCCAGGCC	0.478													4	127					0	0	1	0	0	T	95748058	C	T	95748058	2	4	52	1	0	0	0	0	0	0	0	1	11600	726	26	2		2	PCSK1	5	95748058	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	60793992	95748058	85167202	5	980											
RAPGEF6	51735	broad.mit.edu	37	chr5	131008166	131008166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatcaacagcattttcTtcttggcagtcagaaggaga	8	8	4	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:131008166T>C	uc003kvs.1	-	13	2113	c.1971A>G	c.(1969-1971)gaA>gaG	p.E657E	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.E629E|RAPGEF6_uc010jdm.1_Silent_p.E612E	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CAGCATTTTCTTCTTGGCAGT	0.393													11	323					0	0	1	0	0	C	131008166	T	C	131008166	2	2	52	1	0	0	0	0	0	0	0	1	13048	1606	56	3		3	RAPGEF6	5	131008166	Silent	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08	35260108	131008166	49907094	6	981											
MATR3	9782	broad.mit.edu	37	chr5	138643134	138643134	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattccagcagtcatctctCagtagggactcacagggtca	9	12	6	0			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:138643134C>T	uc003ldw.3	+	2	433	c.30C>T	c.(28-30)ctC>ctT	p.L10L	MATR3_uc003lds.3_Silent_p.L10L|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.L10L|MATR3_uc010jfb.3_Silent_p.L10L|MATR3_uc003ldx.3_Silent_p.L10L|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.L10L|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	10						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTCATCTCTCAGTAGGGACT	0.428													8	193					0	0	1	0	0	T	138643134	C	T	138643134	2	4	52	1	0	0	0	0	0	0	0	1	9337	813	29	2		2	MATR3	5	138643134	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	7634968	138643134	42272126	7	982											
GRB10	2887	broad.mit.edu	37	chr7	50674044	50674044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttacttaccactggcgtcGagaacggggacagcaaggcc	12	12	0	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:50674044G>A	uc003tpi.2	-	10	1308	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	GRB10_uc003tph.3_Missense_Mutation_p.S363L|GRB10_uc003tpj.2_Missense_Mutation_p.S375L|GRB10_uc003tpk.2_Missense_Mutation_p.S421L|GRB10_uc010kzb.2_Missense_Mutation_p.S363L|GRB10_uc003tpl.2_Missense_Mutation_p.S415L|GRB10_uc003tpm.2_Missense_Mutation_p.S363L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	421					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACTGGCGTCGAGAACGGGGA	0.527									Russell-Silver syndrome				10	209					0	0	1	0	0	A	50674044	G	A	50674044	3	1	52	1	0	0	0	0	1	0	0	0	6756	1059	37	1	546	1	GRB10	7	50674044	Missense_Mutation	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		50674044	108464619	8	983											
MAGI2	9863	broad.mit.edu	37	chr7	77973161	77973161	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttttcacctgcagaaactCatcaggctcgtctccaccaa	5	15	4	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:77973161C>T	uc003ugx.3	-	8	1596	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MAGI2_uc003ugy.3_Missense_Mutation_p.E448K|MAGI2_uc010ldx.1_Missense_Mutation_p.E57K|MAGI2_uc010ldy.1_Missense_Mutation_p.E57K|MAGI2_uc011kgr.1_Missense_Mutation_p.E280K|MAGI2_uc011kgs.1_Missense_Mutation_p.E285K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	448	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCAGAAACTCATCAGGCTCG	0.473													43	55					0	0	1	0	0	T	77973161	C	T	77973161	3	4	52	1	0	0	0	0	1	0	0	0	9191	835	29	2	3081	2	MAGI2	7	77973161	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	27299117	77973161	81165502	9	984											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				58	77					0	0	1	0	0	T	140453136	A	T	140453136	3	4	52	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A0Y3-01B-11D-A10S-08	62479975	140453136	18685527	10	985											
DMRT3	58524	broad.mit.edu	37	chr9	990617	990617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacgttgaggttttctgCcgactctagcaacgttgtcc	10	11	2	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr9:990617C>T	uc003zgw.1	+	1	1069	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	344					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGTTTTCTGCCGACTCTAGC	0.582													4	158					0	0	1	0	0	T	990617	C	T	990617	3	4	52	1	0	0	0	0	1	0	0	0	4587	739	26	2	1037	2	DMRT3	9	990617	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		990617	140222814	11	986											
PLCE1	51196	broad.mit.edu	37	chr10	96066243	96066243	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagcccgtgcattgaagtCgacgtcctgggcatgcctct	13	12	1	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr10:96066243C>T	uc001kjk.3	+	25	6316	c.5682C>T	c.(5680-5682)gtC>gtT	p.V1894V	PLCE1_uc010qnx.2_Silent_p.V1878V|PLCE1_uc001kjm.3_Silent_p.V1586V|PLCE1_uc001kjp.3_Silent_p.V252V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1894	C2.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCATTGAAGTCGACGTCCTGG	0.537													29	183					0	0	1	0	0	T	96066243	C	T	96066243	2	4	52	1	0	0	0	0	0	0	0	1	12034	871	31	1		1	PLCE1	10	96066243	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		96066243	39468504	12	987											
PIK3C2G	5288	broad.mit.edu	37	chr12	18499700	18499700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgcacttcctatctaaatCccgggcttccttcccacctc	5	17	1	0			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr12:18499700C>T	uc010sib.2	+	9	1633	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	PIK3C2G_uc001rdt.3_Missense_Mutation_p.P519S|PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sic.2_Missense_Mutation_p.P297S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	519					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTATCTAAATCCCGGGCTTCC	0.448													41	57					0	0	1	0	0	T	18499700	C	T	18499700	3	4	52	1	0	0	0	0	1	0	0	0	11911	855	30	2	1593	2	PIK3C2G	12	18499700	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		18499700	115352195	13	988											
ADAM21	8747	broad.mit.edu	37	chr14	70924858	70924858	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtttctggagctagttgtTgtggtgaaccatgatttctt	12	5	2	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:70924858T>A	uc001xmd.3	+	1	900	c.642T>A	c.(640-642)gtT>gtA	p.V214V	ADAM21_uc021rvq.1_Silent_p.V214V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	214	Peptidase M12B.|Poly-Val.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTAGTTGTTGTGGTGAACC	0.433													71	79					0	0	1	0	0	A	70924858	T	A	70924858	2	1	52	1	0	0	0	0	0	0	0	1	243	1799	63	5		5	ADAM21	14	70924858	Silent	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08		70924858	36424682	14	989											
BATF	10538	broad.mit.edu	37	chr14	76012817	76012817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaggagagcgaagacCtggagaaacagaacgcggct	13	11	0	4			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:76012817C>T	uc001xrr.3	+	2	423	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	61	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GAGCGAAGACCTGGAGAAACA	0.597													7	65					0	0	1	0	0	T	76012817	C	T	76012817	2	4	52	1	0	0	0	0	0	0	0	1	1325	680	24	2		2	BATF	14	76012817	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	5087959	76012817	31336723	15	990											
SLC46A1	113235	broad.mit.edu	37	chr17	26733056	26733056	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccaggaagaccagcggcTctaccgggccccggcacagc	14	16	1	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:26733056T>G	uc002hbf.2	-	0	175	c.77A>C	c.(76-78)gAg>gCg	p.E26A	SLC46A1_uc021ttr.1_Missense_Mutation_p.E26A|SLC46A1_uc010wak.2_Missense_Mutation_p.E26A	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.	26					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GACCAGCGGCTCTACCGGGCC	0.716													6	9					0	0	1	0	0	G	26733056	T	G	26733056	3	3	52	1	0	0	0	0	1	0	0	0	14644	1551	54	5	1323	5	SLC46A1	17	26733056	Missense_Mutation	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08		26733056	54462154	16	991											
CCL23	6368	broad.mit.edu	37	chr17	34340319	34340319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttatcactggggttggcaCagaaacgtcgccccttcttg	11	12	2	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:34340319C>T	uc002hks.1	-	3	403	c.332G>A	c.(331-333)tGt>tAt	p.C111Y	CCL23_uc002hkt.1_Missense_Mutation_p.C94Y	NM_005064	NP_005055	P55773	CCL23_HUMAN	Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8-1, mRNA.	94					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GGGGTTGGCACAGAAACGTCG	0.522													20	24					0	0	1	0	0	T	34340319	C	T	34340319	3	4	52	1	0	0	0	0	1	0	0	0	2895	478	17	2	85	2	CCL23	17	34340319	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	7607263	34340319	46854891	17	992											
GLTSCR2	29997	broad.mit.edu	37	chr19	48254336	48254336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggacaccgtagagcgGcccttctacgacctctgggc	11	17	2	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:48254336G>A	uc002phm.2	+	3	594	c.570G>A	c.(568-570)cgG>cgA	p.R190R	GLTSCR2_uc010elk.1_5'Flank	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	190				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGTAGAGCGGCCCTTCTACG	0.647													11	16					0	0	1	0	0	A	48254336	G	A	48254336	2	1	52	1	0	0	0	0	0	0	0	1	6475	1190	42	2		2	GLTSCR2	19	48254336	Silent	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		48254336	10874647	18	993											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56736373	56736373	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacccaggtctgttgcAggattctcctagactccatg	8	14	2	1			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:56736373A>T	uc002qmr.3	-	3	739	c.43T>A	c.(43-45)Tgc>Agc	p.C15S	ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmq.3_Missense_Mutation_p.C15S|ZSCAN5A_uc002qms.1_Missense_Mutation_p.C15S	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	15					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTCTGTTGCAGGATTCTCCT	0.468													8	99					0	0	1	0	0	T	56736373	A	T	56736373	3	4	52	1	0	0	0	0	1	0	0	0	18235	188	7	5	1463	5	ZSCAN5A	19	56736373	Missense_Mutation	SNP	A	TCGA-DE-A0Y3-01B-11D-A10S-08	8482037	56736373	2392610	19	994											
PDK3	5165	broad.mit.edu	37	chrX	24483609	24483609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgaagcagccggtgCccaagcagatcgagcgctac	14	13	0	2			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chrX:24483609C>T	uc004dbh.3	+	0	266	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	PDK3_uc004dbg.3_Missense_Mutation_p.P13S	NM_001142386	NP_001135858	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	13					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGCCGGTGCCCAAGCAGAT	0.687													8	16					0	0	1	0	0	T	24483609	C	T	24483609	3	4	52	1	0	0	0	0	1	0	0	0	11677	739	26	2	39	2	PDK3	23	24483609	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		24483609	130786951	20	995											
PDPN	10630	broad.mit.edu	37	chr1	13942398	13942398	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccttctctattttcacAggccctaaagagctgaaggg	8	12	3	2			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr1:13942398A>G	uc001avd.3	+	6	760	c.711_splice	c.e6-2	p.S237_splice	PDPN_uc001avc.3_Splice_Site_p.R235_splice|PDPN_uc009vob.3_Splice_Site_p.S119_splice|PDPN_uc009voc.3_Splice_Site_p.S119_splice|PDPN_uc001ave.3_Splice_Site_p.R117_splice|PDPN_uc001avf.3_Splice_Site_p.S119_splice	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	161					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CTATTTTCACAGGCCCTAAAG	0.478													3	83					0	0	1	0	0	G	13942398	A	G	13942398	5	3	53	1	0	0	0	0	0	0	1	0	11688	202	7	3	731	3	PDPN	1	13942398	Splice_Site	SNP	A	TCGA-DE-A2OL-01A-11D-A18F-08		13942398	235308223	1	996											
THPO	7066	broad.mit.edu	37	chr3	184090683	184090683	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagcagaccaggaatcttgGctctgaatccctgctgccac	9	14	3	2			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr3:184090683G>C	uc003fol.1	-	5	895	c.680C>G	c.(679-681)gCc>gGc	p.A227G	THPO_uc003fom.2_Missense_Mutation_p.A223G|THPO_uc021xii.1_Missense_Mutation_p.S221R|THPO_uc003fon.3_Missense_Mutation_p.S188R|THPO_uc011bro.2_Missense_Mutation_p.S184R|THPO_uc003fop.3_Missense_Mutation_p.S184R|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	227					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAATCTTGGCTCTGAATCC	0.527													4	50					0	0	1	0	0	C	184090683	G	C	184090683	3	2	53	1	0	0	0	0	1	0	0	0	15869	1203	42	4	385	4	THPO	3	184090683	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08		184090683	13931747	2	997											
STK32B	55351	broad.mit.edu	37	chr4	5468544	5468544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatccagggatggcacaAaggacagctgcccgctggtg	14	11	0	1			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr4:5468544A>C	uc003gih.1	+	9	1088	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	STK32B_uc010ida.1_Missense_Mutation_p.K295Q	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	342			K -> T (in dbSNP:rs55961955).				ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GGATGGCACAAAGGACAGCTG	0.502													3	40					0	0	1	0	0	C	5468544	A	C	5468544	3	2	53	1	0	0	0	0	1	0	0	0	15297	15	1	5	1062	5	STK32B	4	5468544	Missense_Mutation	SNP	A	TCGA-DE-A2OL-01A-11D-A18F-08		5468544	185685732	3	998											
MAS1L	116511	broad.mit.edu	37	chr6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagattccttcagccTtttctttctgaggctcccca	7	13	4	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr6:29454710T>C	uc011dlq.2	-	0	970	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	324						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.R324G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463													3	127					0	0	1	0	0	C	29454710	T	C	29454710	3	2	53	1	0	0	0	0	1	0	0	0	9321	1608	56	3	168	3	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		29454710	141660357	4	999											
RGL2	5863	broad.mit.edu	37	chr6	33263171	33263171	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgacaccacggcataaactGaagagaagtttcggagcagc	11	10	0	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr6:33263171G>A	uc003odv.3	-	7	1609	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Missense_Mutation_p.S268L|RGL2_uc011drb.2_Missense_Mutation_p.S268L	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	350	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGCATAAACTGAAGAGAAGTT	0.602													5	6					0	0	1	0	0	A	33263171	G	A	33263171	3	1	53	1	0	0	0	0	1	0	0	0	13277	1294	45	2	1328	2	RGL2	6	33263171	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08	3808461	33263171	137851896	5	1000											
TG	7038	broad.mit.edu	37	chr8	133906022	133906022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcttccaacagttctcGgttccctctgggggagagtt	11	11	3	1			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr8:133906022G>A	uc003ytw.3	+	10	2890	c.2849G>A	c.(2848-2850)cGg>cAg	p.R950Q		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	950	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACAGTTCTCGGTTCCCTCTG	0.572													4	111					0	0	1	0	0	A	133906022	G	A	133906022	3	1	53	1	0	0	0	0	1	0	0	0	15810	1116	39	1	2891	1	TG	8	133906022	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08		133906022	12458000	6	1001											
TLR4	7099	broad.mit.edu	37	chr9	120475419	120475419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcaacatttagaattagTtaactgtaaatttggacagt	8	4	0	1			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr9:120475419T>C	uc004bjz.3	+	2	1304	c.1013T>C	c.(1012-1014)gTt>gCt	p.V338A	TLR4_uc004bkb.3_Missense_Mutation_p.V138A|TLR4_uc004bka.3_Missense_Mutation_p.V298A	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	338					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTAGAATTAGTTAACTGTAAA	0.338													14	60					0	0	1	0	0	C	120475419	T	C	120475419	3	2	53	1	0	0	0	0	1	0	0	0	15950	1725	60	3	1023	3	TLR4	9	120475419	Missense_Mutation	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		120475419	20738012	7	1002											
OTUB1	55611	broad.mit.edu	37	chr11	63764532	63764532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgcagttcatggaccTgattgagcaggtggagaagc	16	7	1	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr11:63764532T>C	uc001nyg.1	+	4	1246	c.563T>C	c.(562-564)cTg>cCg	p.L188P	OTUB1_uc001nyf.1_Missense_Mutation_p.L145P|OTUB1_uc010rna.1_Missense_Mutation_p.L154P|OTUB1_uc009ypb.1_Missense_Mutation_p.L115P			Q96FW1	OTUB1_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 2, non-coding RNA.	145	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						TTCATGGACCTGATTGAGCAG	0.617													3	84					0	0	1	0	0	C	63764532	T	C	63764532	3	2	53	1	0	0	0	0	1	0	0	0	11311	1580	55	3	456	3	OTUB1	11	63764532	Missense_Mutation	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		63764532	71241984	8	1003											
FOXM1	2305	broad.mit.edu	37	chr12	2983216	2983216	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatccctagctgcaggtttTggtcccaaggtctccagggt	11	12	1	0			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr12:2983216T>G	uc001qle.3	-	1	712	c.429A>C	c.(427-429)ccA>ccC	p.P143P	FOXM1_uc001qlf.3_Silent_p.P143P|FOXM1_uc009zea.3_Silent_p.P143P|FOXM1_uc009zeb.3_Silent_p.P143P|FOXM1_uc001qlg.3_Silent_p.P143P	NM_202002	NP_973731	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 1, mRNA.	143					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CTGCAGGTTTTGGTCCCAAGG	0.572													3	134					0	0	1	0	0	G	2983216	T	G	2983216	2	3	53	1	0	0	0	0	0	0	0	1	6018	1799	63	5		5	FOXM1	12	2983216	Silent	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		2983216	130868679	9	1004											
TEAD4	7004	broad.mit.edu	37	chr12	3127744	3127744	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccaggccaagccggaAcgtcccatgagtgagtatgg	13	11	0	2			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr12:3127744A>T	uc010sej.2	+	6	809	c.517A>T	c.(517-519)Acg>Tcg	p.T173S	TEAD4_uc010sek.2_Missense_Mutation_p.T130S|TEAD4_uc001qln.3_Missense_Mutation_p.T44S	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	173					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCAAGCCGGAACGTCCCATGA	0.582													18	45					0	0	1	0	0	T	3127744	A	T	3127744	3	4	53	1	0	0	0	0	1	0	0	0	15738	43	2	5	535	5	TEAD4	12	3127744	Missense_Mutation	SNP	A	TCGA-DE-A2OL-01A-11D-A18F-08	144528	3127744	130724151	10	1005											
DOK6	220164	broad.mit.edu	37	chr18	67231729	67231729	+	Frame_Shift_Del	DEL	A	A	-													ttatttgctttcagattttcAgacgatgctggttggttttc							TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr18:67231729delA	uc002lkl.3	+	1	270	c.73delA	c.(73-75)agafs	p.R25fs		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	25	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCAGATTTTCAGACGATGCTG	0.328													18	23	---	---	---	---						-	67231729	A	-	67231729	7	5	53	1	0	1	0	1	0	0	0	0	4701	180	7	0	79	0	DOK6	18	67231729	Frame_Shift_Del	DEL	A	TCGA-DE-A2OL-01A-11D-A18F-08		67231729	10845519	11	1006											
UBASH3A	53347	broad.mit.edu	37	chr21	43838718	43838718	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacacgtgggtgaagcacaGgtgagtgctgcctctggctg	16	9	1	3			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr21:43838718G>T	uc002zbe.3	+	7	1130	c.1046_splice	c.e7+1	p.R349_splice	UBASH3A_uc002zbf.3_Splice_Site_p.R311_splice|UBASH3A_uc010gpe.3_Splice_Site_p.R311_splice|UBASH3A_uc010gpc.3_Splice_Site|UBASH3A_uc010gpd.3_Splice_Site|U6_uc021wjq.1_5'Flank	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	349						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGAAGCACAGGTGAGTGCTG	0.582													13	17					0	0	1	0	0	T	43838718	G	T	43838718	5	4	53	1	0	0	0	0	0	0	1	0	16836	1014	35	4	1072	4	UBASH3A	21	43838718	Splice_Site	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08		43838718	4291177	12	1007											
DOCK7	85440	broad.mit.edu	37	chr1	63113974	63113974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatctattgacattgaacGtcttttaaggtcatcctgtc	6	9	4	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr1:63113974G>A	uc001daq.3	-	5	569	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	DOCK7_uc001dan.3_Missense_Mutation_p.R71C|DOCK7_uc001dao.3_Missense_Mutation_p.R71C|DOCK7_uc001dap.3_Missense_Mutation_p.R179C|DOCK7_uc009wah.1_Missense_Mutation_p.R179C	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	179					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GACATTGAACGTCTTTTAAGG	0.299													25	74					0	0	1	0	0	A	63113974	G	A	63113974	3	1	54	1	0	0	0	0	1	0	0	0	4692	1145	40	1	5970	1	DOCK7	1	63113974	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		63113974	186136647	1	1008											
WDR35	57539	broad.mit.edu	37	chr2	20132156	20132156	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgcatacctagctaacagaGatccaatttctttcatacta	4	10	2	1			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr2:20132156G>T	uc002rdi.3	-	23	2852	c.2744C>A	c.(2743-2745)tCt>tAt	p.S915Y	WDR35_uc002rdj.3_Missense_Mutation_p.S904Y|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Intron	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	915										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTAACAGAGATCCAATTTC	0.348													4	88					0	0	1	0	0	T	20132156	G	T	20132156	3	4	54	1	0	0	0	0	1	0	0	0	17286	942	33	4	821	4	WDR35	2	20132156	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		20132156	223067217	2	1009											
TANC1	85461	broad.mit.edu	37	chr2	160087162	160087162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcaatcctccaagccGcagctggcactgtccggcac	11	16	0	1			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr2:160087162G>A	uc002uag.3	+	26	5499	c.5225G>A	c.(5224-5226)cGc>cAc	p.R1742H	TANC1_uc010zcm.2_3'UTR|TANC1_uc010fon.3_Missense_Mutation_p.R586H	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1742						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCCAAGCCGCAGCTGGCAC	0.582													4	150					0	0	1	0	0	A	160087162	G	A	160087162	3	1	54	1	0	0	0	0	1	0	0	0	15541	1087	38	1	5328	1	TANC1	2	160087162	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08	139955006	160087162	83112211	3	1010											
PLXNB1	5364	broad.mit.edu	37	chr3	48453906	48453906	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcaaccaggtcactgaGcagagtgcggaggatgtcag	16	9	2	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr3:48453906G>C	uc003csw.2	-	25	5248	c.4978C>G	c.(4978-4980)Ctc>Gtc	p.L1660V	PLXNB1_uc003cst.2_Missense_Mutation_p.L110V|PLXNB1_uc003csu.2_Missense_Mutation_p.L1477V|PLXNB1_uc003csx.2_Missense_Mutation_p.L1660V	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1660					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTCACTGAGCAGAGTGCGG	0.607													38	113					0	0	1	0	0	C	48453906	G	C	48453906	3	2	54	1	0	0	0	0	1	0	0	0	12123	971	34	4	1481	4	PLXNB1	3	48453906	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		48453906	149568524	4	1011											
VCAN	1462	broad.mit.edu	37	chr5	82816691	82816691	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atggagcagatgaatttactCttattccagatagtactcaa	7	7	2	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:82816691C>G	uc003kii.3	+	6	2922	c.2566C>G	c.(2566-2568)Ctt>Gtt	p.L856V	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.L856V|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	856	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAATTTACTCTTATTCCAGA	0.408													40	84					0	0	1	0	0	G	82816691	C	G	82816691	3	3	54	1	0	0	0	0	1	0	0	0	17135	913	32	4	2588	4	VCAN	5	82816691	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		82816691	98098569	5	1012											
RBM27	54439	broad.mit.edu	37	chr5	145649072	145649072	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaaagagcttggagagaaGatctcacaattaaaagatga	10	4	1	6			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:145649072G>T	uc003lnz.4	+	16	2782	c.2616G>T	c.(2614-2616)aaG>aaT	p.K872N	RBM27_uc003lny.2_Missense_Mutation_p.K817N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	872					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGAGAAGATCTCACAAT	0.299													3	47					0	0	1	0	0	T	145649072	G	T	145649072	3	4	54	1	0	0	0	0	1	0	0	0	13127	933	33	4	2682	4	RBM27	5	145649072	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08	62832381	145649072	35266188	6	1013											
KAAG1	353219	broad.mit.edu	37	chr6	24358038	24358038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaggcacctccgctgtcCcagcggcctcaccgcaccca	11	20	1	0			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:24358038C>T	uc003ndz.1	+	0	908	c.171C>T	c.(169-171)tcC>tcT	p.S57S	DCDC2_uc003ndx.3_5'UTR|DCDC2_uc003ndy.3_5'UTR	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	Homo sapiens kidney associated antigen 1 (KAAG1), mRNA.	57					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						CTCCGCTGTCCCAGCGGCCTC	0.672													5	47					0	0	1	0	0	T	24358038	C	T	24358038	2	4	54	1	0	0	0	0	0	0	0	1	7973	610	22	2		2	KAAG1	6	24358038	Silent	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		24358038	146757029	7	1014											
SEC63	11231	broad.mit.edu	37	chr6	108230223	108230223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccactatagcgtattgagCgataccaccaagagccctaa	7	13	0	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:108230223C>T	uc003psc.4	-	7	910	c.641G>A	c.(640-642)cGc>cAc	p.R214H	SEC63_uc003psb.4_Missense_Mutation_p.R74H	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	214	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCGTATTGAGCGATACCACCA	0.363													3	32					0	0	1	0	0	T	108230223	C	T	108230223	3	4	54	1	0	0	0	0	1	0	0	0	14005	768	27	1	1697	1	SEC63	6	108230223	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08	83872185	108230223	62884844	8	1015											
RIMS2	9699	broad.mit.edu	37	chr8	105261745	105261745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggaatgatggacaaaaAgggacagctggaggtagaaa	16	3	0	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:105261745A>G	uc003yls.3	+	25	3915	c.3674A>G	c.(3673-3675)aAg>aGg	p.K1225R	RIMS2_uc003ylp.3_Missense_Mutation_p.K1207R|RIMS2_uc003ylw.2_Missense_Mutation_p.K1214R|RIMS2_uc003ylq.3_Missense_Mutation_p.K1021R|RIMS2_uc003ylr.3_Missense_Mutation_p.K1046R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1269					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGGACAAAAAGGGACAGCTG	0.403										HNSCC(12;0.0054)			3	81					0	0	1	0	0	G	105261745	A	G	105261745	3	3	54	1	0	0	0	0	1	0	0	0	13368	72	3	3	3902	3	RIMS2	8	105261745	Missense_Mutation	SNP	A	TCGA-DE-A3KN-01A-11D-A20C-08		105261745	41102277	9	1016											
MYC	4609	broad.mit.edu	37	chr8	128752882	128752882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggacagtgtcagagtccTgagacagatcagcaacaacc	11	10	2	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:128752882T>C	uc003ysi.3	+	2	1568	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P		NM_002467	NP_002458	P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	333					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GTCAGAGTCCTGAGACAGATC	0.572		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"								3	77					0	0	1	0	0	C	128752882	T	C	128752882	3	2	54	1	0	0	0	0	1	0	0	0	10016	1580	55	3	1053	3	MYC	8	128752882	Missense_Mutation	SNP	T	TCGA-DE-A3KN-01A-11D-A20C-08	23491137	128752882	17611140	10	1017											
AKNA	80709	broad.mit.edu	37	chr9	117099483	117099483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctctaggtcgcccaggtCgagctggatggagtgccggt	15	12	1	0			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr9:117099483C>A	uc004biq.3	-	20	4306	c.4171G>T	c.(4171-4173)Gac>Tac	p.D1391Y	AKNA_uc004bin.3_Missense_Mutation_p.D638Y|AKNA_uc004bio.3_Missense_Mutation_p.D851Y|AKNA_uc004bip.3_Missense_Mutation_p.D1310Y|AKNA_uc004bir.3_Missense_Mutation_p.D1391Y|AKNA_uc004bis.3_Missense_Mutation_p.D1391Y|AKNA_uc010mve.2_Missense_Mutation_p.D1272Y	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCGCCCAGGTCGAGCTGGATG	0.672													3	80					0	0	1	0	0	A	117099483	C	A	117099483	3	1	54	1	0	0	0	0	1	0	0	0	463	884	31	4	152	4	AKNA	9	117099483	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		117099483	24113948	11	1018											
PDZD7	79955	broad.mit.edu	37	chr10	102778754	102778754	+	Frame_Shift_Del	DEL	C	C	-													actgtgggccgcacgctgcaCcaggtctccacccggcctcc							TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr10:102778754delC	uc021pxc.1	-	7	1399	c.1149delG	c.(1147-1149)tggfs	p.W383fs	PDZD7_uc001ksn.3_Frame_Shift_Del_p.W383fs|PDZD7_uc001kso.2_Frame_Shift_Del_p.W383fs	NM_001195263	NP_001182192	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 1, mRNA.	383						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCACGCTGCACCAGGTCTCCA	0.741											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	102778754	C	-	102778754	7	5	54	1	0	1	0	1	0	0	0	0	11704	508	18	0	416	0	PDZD7	10	102778754	Frame_Shift_Del	DEL	C	TCGA-DE-A3KN-01A-11D-A20C-08		102778754	32755993	12	1019											
ARFIP2	23647	broad.mit.edu	37	chr11	6499070	6499070	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accacgtgtccctgcatcccGggggcctagactcagctcct	10	17	1	1			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:6499070G>C	uc010ran.2	-	6	1138	c.847C>G	c.(847-849)Cgg>Ggg	p.R283G	ARFIP2_uc001mdk.3_Missense_Mutation_p.R250G|ARFIP2_uc010ral.2_Missense_Mutation_p.R212G|ARFIP2_uc010ram.2_Missense_Mutation_p.R165G	NM_001242854	NP_001229783	P53365	ARFP2_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 1, mRNA.	250	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGCATCCCGGGGGCCTAGA	0.572													3	123					0	0	1	0	0	C	6499070	G	C	6499070	3	2	54	1	0	0	0	0	1	0	0	0	855	1115	39	4	285	4	ARFIP2	11	6499070	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		6499070	128507446	13	1020											
LRRC55	219527	broad.mit.edu	37	chr11	56950058	56950058	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgagggcctaccggggCtggtgaccctgcagatcggt	15	12	1	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:56950058C>G	uc001njl.2	+	0	838	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	201	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTACCGGGGCTGGTGACCCT	0.642													72	138					0	0	1	0	0	G	56950058	C	G	56950058	3	3	54	1	0	0	0	0	1	0	0	0	9011	796	28	4	693	4	LRRC55	11	56950058	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08	50450988	56950058	78056458	14	1021											
WNK1	65125	broad.mit.edu	37	chr12	994570	994570	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actcactagataagacatctCatagcagtacaactggattg	7	9	2	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr12:994570C>G	uc021qss.1	+	18	6023	c.5380C>G	c.(5380-5382)Cat>Gat	p.H1794D	WNK1_uc001qio.4_Missense_Mutation_p.H1534D|WNK1_uc021qst.1_Missense_Mutation_p.H1786D|WNK1_uc001qip.4_Missense_Mutation_p.H1287D|WNK1_uc001qir.4_Missense_Mutation_p.H707D	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1534					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAAGACATCTCATAGCAGTAC	0.483													7	689					0	0	1	0	0	G	994570	C	G	994570	3	3	54	1	0	0	0	0	1	0	0	0	17374	826	29	4	6176	4	WNK1	12	994570	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		994570	132857325	15	1022											
SLITRK1	114798	broad.mit.edu	37	chr13	84455509	84455509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagacttgtgaagcccTttttttcacagtctacgtgt	9	10	2	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr13:84455509T>C	uc001vlk.3	-	0	1020	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	45	LRRNT.					integral to membrane		p.K45fs*64(2)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTGAAGCCCTTTTTTTCACA	0.463													3	107					0	0	1	0	0	C	84455509	T	C	84455509	3	2	54	1	0	0	0	0	1	0	0	0	14742	1609	56	3	1960	3	SLITRK1	13	84455509	Missense_Mutation	SNP	T	TCGA-DE-A3KN-01A-11D-A20C-08		84455509	30714369	16	1023											
DYNC1H1	1778	broad.mit.edu	37	chr14	102509075	102509075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcattcccgtctcacGgatatgcaaggtaagtacct	9	12	1	0			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr14:102509075G>A	uc001yks.2	+	68	12667	c.12503G>A	c.(12502-12504)cGg>cAg	p.R4168Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4168	AAA 6 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCCGTCTCACGGATATGCAAG	0.577													35	45					0	0	1	0	0	A	102509075	G	A	102509075	3	1	54	1	0	0	0	0	1	0	0	0	4841	1116	39	1	12777	1	DYNC1H1	14	102509075	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		102509075	4840465	17	1024											
HMOX2	3163	broad.mit.edu	37	chr16	4558163	4558163	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacatgaagaccaaagagagGatcgtggaggaggccaacaa	13	7	0	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr16:4558163G>C	uc010bts.3	+	3	825	c.654G>C	c.(652-654)agG>agC	p.R218S	HMOX2_uc002cwr.4_Missense_Mutation_p.R218S|HMOX2_uc002cwq.4_Missense_Mutation_p.R218S|HMOX2_uc010btt.3_Missense_Mutation_p.R218S|HMOX2_uc002cwt.3_Missense_Mutation_p.R218S	NM_001127206	NP_002125	P30519	HMOX2_HUMAN	Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 4, mRNA.	218					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CCAAAGAGAGGATCGTGGAGG	0.522													29	65					0	0	1	0	0	C	4558163	G	C	4558163	3	2	54	1	0	0	0	0	1	0	0	0	7244	1165	41	4	664	4	HMOX2	16	4558163	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		4558163	85796590	18	1025											
PLCD3	113026	broad.mit.edu	37	chr17	43197710	43197710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgaagaggaggtaggcGtacatgtcgttcatgtccac	12	9	1	2			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:43197710G>A	uc002iib.3	-	3	780	c.666C>T	c.(664-666)taC>taT	p.Y222Y		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	222	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GGAGGTAGGCGTACATGTCGT	0.577													3	30					0	0	1	0	0	A	43197710	G	A	43197710	2	1	54	1	0	0	0	0	0	0	0	1	12032	1140	40	1		1	PLCD3	17	43197710	Silent	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		43197710	37997500	19	1026											
WDR45L	56270	broad.mit.edu	37	chr17	80574465	80574465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctgagggaacctgaaacTtggagaaactccacttggaa	11	9	0	3			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:80574465T>C	uc002kfq.3	-	8	1058	c.863A>G	c.(862-864)aAg>aGg	p.K288R	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	288					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			AACCTGAAACTTGGAGAAACT	0.493													3	101					0	0	1	0	0	C	80574465	T	C	80574465	3	2	54	1	0	0	0	0	1	0	0	0	17295	1609	56	3	179	3	WDR45L	17	80574465	Missense_Mutation	SNP	T	TCGA-DE-A3KN-01A-11D-A20C-08	37376755	80574465	620745	20	1027											
DYSF	8291	broad.mit.edu	37	chr2	71909724	71909724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaagttcatcctgtggCggcgtttccggtgggccatc	13	12	1	1			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr2:71909724C>T	uc010fen.3	+	54	6379	c.6238C>T	c.(6238-6240)Cgg>Tgg	p.R2080W	DYSF_uc010fei.3_Missense_Mutation_p.R2058W|DYSF_uc010feh.3_Missense_Mutation_p.R2048W|DYSF_uc002sig.4_Missense_Mutation_p.R2027W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R2072W|DYSF_uc010fee.3_Missense_Mutation_p.R2062W|DYSF_uc010fef.3_Missense_Mutation_p.R2079W|DYSF_uc002sie.3_Missense_Mutation_p.R2041W|DYSF_uc010feo.3_Missense_Mutation_p.R2073W|DYSF_uc010fej.3_Missense_Mutation_p.R2049W|DYSF_uc010fel.3_Missense_Mutation_p.R2028W|DYSF_uc010fem.3_Missense_Mutation_p.R2063W|DYSF_uc002sif.3_Missense_Mutation_p.R2042W|DYSF_uc010fek.3_Missense_Mutation_p.R2059W|DYSF_uc010yqy.2_Missense_Mutation_p.R922W|DYSF_uc010yqz.2_Missense_Mutation_p.R802W	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2041						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCCTGTGGCGGCGTTTCCG	0.582													12	68					0	0	1	0	0	T	71909724	C	T	71909724	3	4	55	1	0	0	0	0	1	0	0	0	4859	759	27	1	6594	1	DYSF	2	71909724	Missense_Mutation	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08		71909724	171289649	1	1028											
SYN2	6854	broad.mit.edu	37	chr3	12183431	12183431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcagagctcaacctggtGgcccatgcagatggcaccta	10	12	2	2			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr3:12183431G>A	uc003bwm.3	+	5	614	c.450G>A	c.(448-450)gtG>gtA	p.V150V	SYN2_uc003bwl.1_Silent_p.V150V	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	154					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TCAACCTGGTGGCCCATGCAG	0.478													7	38					0	0	1	0	0	A	12183431	G	A	12183431	2	1	55	1	0	0	0	0	0	0	0	1	15438	1335	47	2		2	SYN2	3	12183431	Silent	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		12183431	185838999	2	1029											
KDR	3791	broad.mit.edu	37	chr4	55946325	55946325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcttttgctgggcaccAttccactgcagaagaaatgg	10	12	0	2			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr4:55946325A>G	uc003has.3	-	29	4156	c.3854T>C	c.(3853-3855)aTg>aCg	p.M1285T	KDR_uc003hat.1_Missense_Mutation_p.M1285T	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1285					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGGGCACCATTCCACTGCA	0.507			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			8	37					0	0	1	0	0	G	55946325	A	G	55946325	3	3	55	1	0	0	0	0	1	0	0	0	8139	217	8	3	220	3	KDR	4	55946325	Missense_Mutation	SNP	A	TCGA-DE-A4M8-01A-21D-A257-08		55946325	135207951	3	1030											
TERT	7015	broad.mit.edu	37	chr5	1280291	1280291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcttttctctgcggaaCgttctggctcccacgacgta	8	15	3	0	rs148582238		TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr5:1280291C>T	uc003jcb.1	-	3	1990	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Silent_p.T644T|TERT_uc003jca.1_Silent_p.T644T|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.T96T	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	644	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCTGCGGAACGTTCTGGCTC	0.552									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				6	99					0	0	1	0	0	T	1280291	C	T	1280291	2	4	55	1	0	0	0	0	0	0	0	1	15761	523	19	1		1	TERT	5	1280291	Silent	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08		1280291	179634969	4	1031											
PCDH12	51294	broad.mit.edu	37	chr5	141329142	141329142	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccatctgtgtctgggatTgcactcctgcaaaagaaacc	11	11	2	1			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr5:141329142T>C	uc003llx.3	-	2	4196	c.2985A>G	c.(2983-2985)gcA>gcG	p.A995A		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	995					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTGGGATTGCACTCCTGC	0.493													16	77					0	0	1	0	0	C	141329142	T	C	141329142	2	2	55	1	0	0	0	0	0	0	0	1	11510	1799	63	3		3	PCDH12	5	141329142	Silent	SNP	T	TCGA-DE-A4M8-01A-21D-A257-08	140048851	141329142	39586118	5	1032											
VWA2	340706	broad.mit.edu	37	chr10	116045953	116045953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcattcccttccgtggtgGccccaccctgacgggcagtg	13	15	0	1	rs147199528		TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr10:116045953G>C	uc001lbl.1	+	10	1574	c.1253G>C	c.(1252-1254)gGc>gCc	p.G418A	VWA2_uc001lbk.1_Missense_Mutation_p.G418A|VWA2_uc009xyf.1_Missense_Mutation_p.G114A	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	418	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TTCCGTGGTGGCCCCACCCTG	0.672													14	49					0	0	1	0	0	C	116045953	G	C	116045953	3	2	55	1	0	0	0	0	1	0	0	0	17236	1203	42	4	1291	4	VWA2	10	116045953	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		116045953	19488794	6	1033											
FBXO3	26273	broad.mit.edu	37	chr11	33777500	33777500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaacgatagtgattagaCagtgccatgcttcccaataa	8	9	1	3			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr11:33777500C>T	uc001muz.3	-	4	523	c.495G>A	c.(493-495)ctG>ctA	p.L165L	FBXO3_uc010rej.2_5'Flank|FBXO3_uc001muy.3_Silent_p.L52L|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Silent_p.L165L|FBXO3_uc001mvb.1_Silent_p.L160L|FBXO3_uc010rek.1_Intron	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	165					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AGTGATTAGACAGTGCCATGC	0.428													3	24					0	0	1	0	0	T	33777500	C	T	33777500	2	4	55	1	0	0	0	0	0	0	0	1	5739	465	17	2		2	FBXO3	11	33777500	Silent	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08		33777500	101229016	7	1034											
OR8K5	219453	broad.mit.edu	37	chr11	55927697	55927697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgattaggtagatgaCgaggaagactccaaaaaggg	13	6	0	4			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr11:55927697C>T	uc010rja.2	-	0	97	c.97G>A	c.(97-99)Gtc>Atc	p.V33I		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AGGTAGATGACGAGGAAGACT	0.433													19	72					0	0	1	0	0	T	55927697	C	T	55927697	3	4	55	1	0	0	0	0	1	0	0	0	11245	536	19	1	829	1	OR8K5	11	55927697	Missense_Mutation	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08	22150197	55927697	79078819	8	1035											
CDH8	1006	broad.mit.edu	37	chr16	61761114	61761114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactcgtgatatctgactgtGgttccctatgggaaggaaaa	11	7	1	2			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr16:61761114G>T	uc002eog.2	-	8	2375	c.1420C>A	c.(1420-1422)Cac>Aac	p.H474N	CDH8_uc002eoh.3_Missense_Mutation_p.H243N	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	474	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATCTGACTGTGGTTCCCTATG	0.398													14	117					0	0	1	0	0	T	61761114	G	T	61761114	3	4	55	1	0	0	0	0	1	0	0	0	3116	1348	47	4	995	4	CDH8	16	61761114	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		61761114	28593639	9	1036											
POFUT2	23275	broad.mit.edu	37	chr21	46689817	46689817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtcttcatgaggctgcGgatcttcctcacggcccctt	12	13	4	1			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr21:46689817G>A	uc002zhc.3	-	6	974	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Missense_Mutation_p.R317C	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	317					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		ATGAGGCTGCGGATCTTCCTC	0.542													9	55					0	0	1	0	0	A	46689817	G	A	46689817	3	1	55	1	0	0	0	0	1	0	0	0	12184	1116	39	1	491	1	POFUT2	21	46689817	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		46689817	1440078	10	1037											
TMSB15A	11013	broad.mit.edu	37	chrX	101770045	101770045	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattagttttcttcagttttGacctgtcaaacttctccact	4	10	4	1			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chrX:101770045G>A	uc004eje.3	-	1	170	c.47C>T	c.(46-48)tCa>tTa	p.S16L		NM_021992	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15a (TMSB15A), mRNA.	16					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			large_intestine(1)|lung(1)	2						CTTCAGTTTTGACCTGTCAAA	0.368													9	79					0	0	1	0	0	A	101770045	G	A	101770045	3	1	55	1	0	0	0	0	1	0	0	0	16252	1294	45	2	98	2	TMSB15A	23	101770045	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		101770045	53500515	11	1038											
GPR75	10936	broad.mit.edu	37	chr2	54081132	54081132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctccctgcacagggacCcccatgaaaggctgtggtct	10	16	1	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr2:54081132C>T	uc002rxo.3	-	1	1077	c.762G>A	c.(760-762)ggG>ggA	p.G254G	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc021vhn.1_Silent_p.G254G	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	254						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACAGGGACCCCCATGAAAG	0.537													18	38					0	0	1	0	0	T	54081132	C	T	54081132	2	4	56	1	0	0	0	0	0	0	0	1	6708	610	22	2		2	GPR75	2	54081132	Silent	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		54081132	189118241	1	1039											
SAMD7	344658	broad.mit.edu	37	chr3	169644878	169644878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagcaaaggcctgggaCgatgggaaagaggaggcttc	16	7	0	2			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr3:169644878C>T	uc003fgd.3	+	5	1095	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_uc003fge.3_Silent_p.D276D|SAMD7_uc011bpo.2_Silent_p.D177D	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562													33	42					0	0	1	0	0	T	169644878	C	T	169644878	2	4	56	1	0	0	0	0	0	0	0	1	13824	535	19	1		1	SAMD7	3	169644878	Silent	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		169644878	28377552	2	1040											
FSTL4	23105	broad.mit.edu	37	chr5	132535059	132535059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccgtgtgcagagccgCgtagatgttgtattgattgc	14	9	0	3			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:132535059C>T	uc003kyn.1	-	15	2475	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	FSTL4_uc003kym.1_Missense_Mutation_p.A402T	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	753						extracellular region	calcium ion binding	p.A753T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGAGCCGCGTAGATGTTG	0.572													29	37					0	0	1	0	0	T	132535059	C	T	132535059	3	4	56	1	0	0	0	0	1	0	0	0	6079	768	27	1	275	1	FSTL4	5	132535059	Missense_Mutation	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		132535059	48380201	3	1041											
KCNIP1	30820	broad.mit.edu	37	chr5	170148874	170148874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cattacctcttcaatgccttCgacaccactcagacaggctc	5	16	3	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:170148874C>A	uc010jjq.3	+	3	898	c.369C>A	c.(367-369)ttC>ttA	p.F123L	KCNIP1_uc003map.3_Missense_Mutation_p.F107L|KCNIP1_uc003mas.3_Missense_Mutation_p.F109L|KCNIP1_uc003mat.3_Missense_Mutation_p.F98L|KCNIP1_uc010jjp.3_Missense_Mutation_p.F70L	NM_014592	NP_055407	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 2, mRNA.	109	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.F109F(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATGCCTTCGACACCACTC	0.547													9	125					0	0	1	0	0	A	170148874	C	A	170148874	3	1	56	1	0	0	0	0	1	0	0	0	8039	883	31	4	437	4	KCNIP1	5	170148874	Missense_Mutation	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08	37613815	170148874	10766386	4	1042											
C9orf47	286223	broad.mit.edu	37	chr9	91606052	91606052	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caagcctgttcccgctgggtCtctgggcgcccggtttctgc	13	15	2	0			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:91606052C>G	uc004aqd.3	+	0	275	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	S1PR3_uc004aqe.3_5'Flank|C9orf47_uc004aqc.2_Missense_Mutation_p.L48V	NM_001001938	NP_001001938	Q6ZRZ4	CI047_HUMAN	Homo sapiens chromosome 9 open reading frame 47 (C9orf47), transcript variant 1, mRNA.	48						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCGCTGGGTCTCTGGGCGCC	0.672													5	10					0	0	1	0	0	G	91606052	C	G	91606052	3	3	56	1	0	0	0	0	1	0	0	0	2485	913	32	4	144	4	C9orf47	9	91606052	Missense_Mutation	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		91606052	49607379	5	1043											
OR13C8	138802	broad.mit.edu	37	chr9	107331756	107331756	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatggtgcaaatgtttaTttcttttgccatgggggcca	12	6	1	0			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:107331756T>A	uc011lvo.2	+	0	308	c.308T>A	c.(307-309)aTt>aAt	p.I103N		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAAATGTTTATTTCTTTTGCC	0.488													6	107					0	0	1	0	0	A	107331756	T	A	107331756	3	1	56	1	0	0	0	0	1	0	0	0	10938	1493	52	5	310	5	OR13C8	9	107331756	Missense_Mutation	SNP	T	TCGA-DE-A4M9-01A-11D-A257-08	15725704	107331756	33881675	6	1044											
KRT85	3891	broad.mit.edu	37	chr12	52758885	52758885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctccaggttgctctcgcAgcagcgctggttctggtaga	14	11	2	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr12:52758885A>G	uc001sag.3	-	1	610	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	164	Linker 1.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCTCTCGCAGCAGCGCTGG	0.612													11	71					0	0	1	0	0	G	52758885	A	G	52758885	3	3	56	1	0	0	0	0	1	0	0	0	8499	188	7	3	1065	3	KRT85	12	52758885	Missense_Mutation	SNP	A	TCGA-DE-A4M9-01A-11D-A257-08		52758885	81093010	7	1045											
CACNA1G	8913	broad.mit.edu	37	chr17	48696019	48696019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattccaccctccccaggacAccctccgggactgtgaccag	8	18	0	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr17:48696019A>G	uc002irk.1	+	32	5803	c.5431A>G	c.(5431-5433)Acc>Gcc	p.T1811A	CACNA1G_uc002irj.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irl.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irm.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irn.1_Missense_Mutation_p.T1770A|CACNA1G_uc002iro.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irp.1_Missense_Mutation_p.T1811A|CACNA1G_uc002irq.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irr.1_Missense_Mutation_p.T1811A|CACNA1G_uc002irs.1_Missense_Mutation_p.T1800A|CACNA1G_uc002irt.1_Missense_Mutation_p.T1793A|CACNA1G_uc002iru.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irv.1_Missense_Mutation_p.T1800A|CACNA1G_uc002irw.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irx.1_Missense_Mutation_p.T1724A|CACNA1G_uc002iry.1_Missense_Mutation_p.T1713A|CACNA1G_uc002isg.1_Missense_Mutation_p.T1672A|CACNA1G_uc002ish.1_Missense_Mutation_p.T1679A|CACNA1G_uc002isi.1_Missense_Mutation_p.T1667A|CACNA1G_uc002irz.1_Missense_Mutation_p.T1717A|CACNA1G_uc002isa.1_Missense_Mutation_p.T1690A|CACNA1G_uc002isd.1_Missense_Mutation_p.T1699A|CACNA1G_uc002isb.1_Missense_Mutation_p.T1731A|CACNA1G_uc002isc.1_Missense_Mutation_p.T1713A|CACNA1G_uc002ise.1_Missense_Mutation_p.T1679A|CACNA1G_uc002isf.1_Missense_Mutation_p.T1706A	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1811					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCCAGGACACCCTCCGGGA	0.562													4	18					0	0	1	0	0	G	48696019	A	G	48696019	3	3	56	1	0	0	0	0	1	0	0	0	2544	159	6	3	5828	3	CACNA1G	17	48696019	Missense_Mutation	SNP	A	TCGA-DE-A4M9-01A-11D-A257-08		48696019	32499191	8	1046											
CDH7	1005	broad.mit.edu	37	chr18	63491897	63491897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcttatcaatataacGtcccagagtcattacctgta	7	10	3	1			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr18:63491897G>A	uc002ljz.3	+	5	1136	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	CDH7_uc002lka.3_Missense_Mutation_p.V271I|CDH7_uc002lkb.3_Missense_Mutation_p.V271I	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA.	271	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAATATAACGTCCCAGAGTC	0.373													8	52					0	0	1	0	0	A	63491897	G	A	63491897	3	1	56	1	0	0	0	0	1	0	0	0	3115	1145	40	1	829	1	CDH7	18	63491897	Missense_Mutation	SNP	G	TCGA-DE-A4M9-01A-11D-A257-08		63491897	14585351	9	1047											
EIF3L	51386	broad.mit.edu	37	chr22	38251572	38251572	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttttcttgatttttagCtggaccaagctgactgaaag	8	6	1	3	rs143207366		TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr22:38251572C>T	uc003auf.3	+	4	372	c.294_splice	c.e4-1	p.S98_splice	EIF3L_uc011ann.2_Splice_Site_p.S98_splice|EIF3L_uc003aug.3_Intron	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	98						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGATTTTTAGCTGGACCAAGC	0.428													3	30					0	0	1	0	0	T	38251572	C	T	38251572	5	4	56	1	0	0	0	0	0	0	1	0	5022	811	28	2	308	2	EIF3L	22	38251572	Splice_Site	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		38251572	13052994	10	1048											
CTSS	1520	broad.mit.edu	37	chr1	150727538	150727538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagaatcaggcaatatcCgattagggtttgacttatat	8	8	1	2	rs140031053	by1000genomes	TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr1:150727538C>T	uc001evn.3	-	3	599	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	CTSS_uc010pcj.2_Intron	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	113			R -> W (in dbSNP:rs2230061).		immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	p.R113L(2)|p.R113W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCAATATCCGATTAGGGTT	0.433													20	215					0	0	1	0	0	T	150727538	C	T	150727538	3	4	57	1	0	0	0	0	1	0	0	0	4041	652	23	1	677	1	CTSS	1	150727538	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		150727538	98523083	1	1049											
STAM2	10254	broad.mit.edu	37	chr2	153003678	153003678	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctgaataaatctctcacctGagaacctgctggaggaaaag	9	9	3	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr2:153003678G>C	uc002tyc.4	-	4	795	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	STAM2_uc010foa.1_Missense_Mutation_p.Q149E|STAM2_uc002tyd.3_Missense_Mutation_p.Q149E	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	149					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTCTCACCTGAGAACCTGCT	0.363													8	122					0	0	1	0	0	C	153003678	G	C	153003678	3	2	57	1	0	0	0	0	1	0	0	0	15248	1299	45	4	1172	4	STAM2	2	153003678	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		153003678	90195695	2	1050											
C3orf58	205428	broad.mit.edu	37	chr3	143691563	143691563	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcatctgcaagcgggccaCcggccggccccgctgcgacc	14	18	1	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:143691563C>G	uc003evo.3	+	0	924	c.389C>G	c.(388-390)aCc>aGc	p.T130S	C3orf58_uc011bnl.2_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	130						COPI vesicle coat|extracellular region		p.T130P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGCGGGCCACCGGCCGGCCC	0.766													3	11					0	0	1	0	0	G	143691563	C	G	143691563	3	3	57	1	0	0	0	0	1	0	0	0	2236	507	18	4	391	4	C3orf58	3	143691563	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		143691563	54330867	3	1051											
DVL3	1857	broad.mit.edu	37	chr3	183882940	183882940	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagagcagtgcctcacgcctGatgagaagacacaagcggcg	13	12	1	4			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:183882940G>A	uc003fms.3	+	5	779	c.639G>A	c.(637-639)ctG>ctA	p.L213L	DVL3_uc011bqw.2_Silent_p.L213L|DVL3_uc003fmt.3_5'UTR|DVL3_uc003fmu.3_Silent_p.L45L	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	213					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.R212C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTCACGCCTGATGAGAAGAC	0.642													5	59					0	0	1	0	0	A	183882940	G	A	183882940	2	1	57	1	0	0	0	0	0	0	0	1	4837	1277	45	2		2	DVL3	3	183882940	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	40191377	183882940	14139490	4	1052											
TBC1D9	23158	broad.mit.edu	37	chr4	141543797	141543797	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtgttcctcgctgtcggggGccaggctggccggcaggggc	19	12	0	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:141543797G>C	uc010ioj.3	-	20	3625	c.3353C>G	c.(3352-3354)gCc>gGc	p.A1118G		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1118						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTGTCGGGGGCCAGGCTGGC	0.657													12	41					0	0	1	0	0	C	141543797	G	C	141543797	3	2	57	1	0	0	0	0	1	0	0	0	15624	1203	42	4	451	4	TBC1D9	4	141543797	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		141543797	49610479	5	1053											
PRSS48	345062	broad.mit.edu	37	chr4	152203401	152203401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaaaatcgtcatccatcCcaagtaccaagatacaacgg	6	13	1	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:152203401C>A	uc011cif.2	+	2	317	c.317C>A	c.(316-318)cCc>cAc	p.P106H	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTCATCCATCCCAAGTACCAA	0.468													10	190					0	0	1	0	0	A	152203401	C	A	152203401	3	1	57	1	0	0	0	0	1	0	0	0	12630	623	22	4	327	4	PRSS48	4	152203401	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	10659604	152203401	38950875	6	1054											
GFRA3	2676	broad.mit.edu	37	chr5	137595283	137595283	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agtttgctgagattcattttCcagggtttgctggtcactgt	11	7	2	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr5:137595283C>G	uc003lcn.3	-	2	575	c.435G>C	c.(433-435)tgG>tgC	p.W145C	GFRA3_uc003lco.3_Intron	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	145					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATTCATTTTCCAGGGTTTGC	0.557													14	74					0	0	1	0	0	G	137595283	C	G	137595283	3	3	57	1	0	0	0	0	1	0	0	0	6349	856	30	4	791	4	GFRA3	5	137595283	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		137595283	43319977	7	1055											
HIVEP1	3096	broad.mit.edu	37	chr6	12161971	12161971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgactgtcctgagcacaGcacagtctgactacaatagg	10	10	1	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:12161971G>A	uc003nac.3	+	7	6966	c.6787G>A	c.(6787-6789)Gca>Aca	p.A2263T	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2263					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTGAGCACAGCACAGTCTGA	0.552													3	70					0	0	1	0	0	A	12161971	G	A	12161971	3	1	57	1	0	0	0	0	1	0	0	0	7186	971	34	2	6813	2	HIVEP1	6	12161971	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		12161971	158953096	8	1056											
CUL9	23113	broad.mit.edu	37	chr6	43173160	43173160	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacttttgagcacttctatCagtgagtgcaggtctggagg	12	8	3	2	rs148718257	byFrequency	TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:43173160C>T	uc003ouk.3	+	24	4868	c.4793_splice	c.e24+1	p.Q1598_splice	CUL9_uc003oul.3_Splice_Site_p.Q1598_splice|CUL9_uc010jyk.3_Splice_Site_p.Q750_splice	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1598					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACTTCTATCAGTGAGTGCA	0.517													14	141					0	0	1	0	0	T	43173160	C	T	43173160	5	4	57	1	0	0	0	0	0	0	1	0	4061	840	29	2	4882	2	CUL9	6	43173160	Splice_Site	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	31011189	43173160	127941907	9	1057											
STK31	56164	broad.mit.edu	37	chr7	23775294	23775294	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggtgcttaagaaaggAtttgcagagaaatgcagact	13	4	0	4			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr7:23775294A>T	uc003sws.4	+	6	688	c.621A>T	c.(619-621)ggA>ggT	p.G207G	STK31_uc003swt.4_Silent_p.G184G|STK31_uc011jze.2_Silent_p.G207G|STK31_uc010kuq.3_Silent_p.G184G	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	207							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAGAAAGGATTTGCAGAGA	0.413													27	71					0	0	1	0	0	T	23775294	A	T	23775294	2	4	57	1	0	0	0	0	0	0	0	1	15295	320	12	5		5	STK31	7	23775294	Silent	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08		23775294	135363369	10	1058											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	57					0	0	1	0	0	T	140453136	A	T	140453136	3	4	57	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	116677842	140453136	18685527	11	1059											
SGK223	157285	broad.mit.edu	37	chr8	8185788	8185788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctgttccgggcttggggGagccttgggtccagaagaag	17	8	0	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:8185788G>A	uc003wsh.4	-	3	2504	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	835							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGGCTTGGGGGAGCCTTGGGT	0.607													35	132					0	0	1	0	0	A	8185788	G	A	8185788	3	1	57	1	0	0	0	0	1	0	0	0	14210	1174	41	2	1712	2	SGK223	8	8185788	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		8185788	138178234	12	1060											
PRKDC	5591	broad.mit.edu	37	chr8	48798637	48798638	+	Missense_Mutation	DNP	GC	GC	AA													tgggagaagtggatgacgctGccctgtgagctgcccaagga							TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:48798637_48798638GC>AA	uc003xqi.3	-	36	4697_4698	c.4640_4641GC>TT	c.(4639-4641)ggc>gTT	p.G1547V	PRKDC_uc003xqj.3_Missense_Mutation_p.G1547V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1548					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGATGACGCTGCCCTGTGAGCT	0.495								Non-homologous end-joining					14	41					0	0	1	0	0	AA	48798638	GC	AA	48798637	3	1	57	1	0	0	0	0	1	0	0	0	12521	1306	46	2	7946	2	PRKDC	8	48798637	Missense_Mutation	DNP	GC	TCGA-DJ-A13L-01A-11D-A21Z-08	40612849	48798637	97565385	13	1061											
TYRP1	7306	broad.mit.edu	37	chr9	12695656	12695656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggggccagatggcaacaCgccacaatttgagaacattt	10	10	0	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:12695656C>T	uc003zkv.4	+	2	705	c.527C>T	c.(526-528)aCg>aTg	p.T176M		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	176					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GATGGCAACACGCCACAATTT	0.448									Oculocutaneous Albinism				24	79					0	0	1	0	0	T	12695656	C	T	12695656	3	4	57	1	0	0	0	0	1	0	0	0	16813	536	19	1	533	1	TYRP1	9	12695656	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		12695656	128517775	14	1062											
DOLK	22845	broad.mit.edu	37	chr9	131709562	131709562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccaggccccggggccggAgatgggcactctcgggtcat	16	15	2	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:131709562A>G	uc004bwr.3	-	0	451	c.21T>C	c.(19-21)tcT>tcC	p.S7S	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	7					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCGGGGCCGGAGATGGGCACT	0.667													11	27					0	0	1	0	0	G	131709562	A	G	131709562	2	3	57	1	0	0	0	0	0	0	0	1	4703	291	11	3		3	DOLK	9	131709562	Silent	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	119013906	131709562	9503869	15	1063											
DUSP5	1847	broad.mit.edu	37	chr10	112262508	112262508	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agactttctactcggaatatCctgagtgttgcgtggatgta	11	7	1	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr10:112262508C>G	uc001kzd.3	+	1	664	c.409C>G	c.(409-411)Cct>Gct	p.P137A		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	137	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CTCGGAATATCCTGAGTGTTG	0.423													17	74					0	0	1	0	0	G	112262508	C	G	112262508	3	3	57	1	0	0	0	0	1	0	0	0	4828	855	30	4	415	4	DUSP5	10	112262508	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		112262508	23272239	16	1064											
PHRF1	57661	broad.mit.edu	37	chr11	587445	587445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattacttctgcctggactGcattgtcgaatggtccaagg	10	11	1	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:587445G>A	uc001lqe.3	+	3	532	c.401G>A	c.(400-402)tGc>tAc	p.C134Y	PHRF1_uc010qwc.2_Missense_Mutation_p.C134Y|PHRF1_uc010qwd.2_Missense_Mutation_p.C133Y|PHRF1_uc010qwe.2_Missense_Mutation_p.C130Y	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	134							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGCCTGGACTGCATTGTCGAA	0.557													4	89					0	0	1	0	0	A	587445	G	A	587445	3	1	57	1	0	0	0	0	1	0	0	0	11861	1319	46	2	411	2	PHRF1	11	587445	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		587445	134419071	17	1065											
SPTY2D1	144108	broad.mit.edu	37	chr11	18633034	18633034	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttatgcttacctctttgcttCttccttctgctgctctttcc	4	14	4	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:18633034C>T	uc001moy.3	-	4	2170	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K		NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	652										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTCTTTGCTTCTTCCTTCTGC	0.353													8	82					0	0	1	0	0	T	18633034	C	T	18633034	3	4	57	1	0	0	0	0	1	0	0	0	15125	922	32	2	111	2	SPTY2D1	11	18633034	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	18045589	18633034	116373482	18	1066											
OR4C11	219429	broad.mit.edu	37	chr11	55371297	55371297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaagtgtccatgcaggcaaGtttcaacaagggctgcaaat	11	8	1	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:55371297G>T	uc010rii.2	-	0	578	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATGCAGGCAAGTTTCAACAAG	0.393													18	77					0	0	1	0	0	T	55371297	G	T	55371297	3	4	57	1	0	0	0	0	1	0	0	0	11045	1029	36	4	381	4	OR4C11	11	55371297	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	36738263	55371297	79635219	19	1067											
KIF21A	55605	broad.mit.edu	37	chr12	39716485	39716485	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttacatgctgcctatcttaGaaggtaagccaggtggggga	13	8	1	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:39716485G>A	uc001rly.3	-	26	4076	c.3656C>T	c.(3655-3657)tCt>tTt	p.S1219F	KIF21A_uc001rlv.3_Missense_Mutation_p.S224F|KIF21A_uc001rlw.3_Missense_Mutation_p.S536F|KIF21A_uc001rlx.3_Missense_Mutation_p.S1206F|KIF21A_uc001rlz.3_Missense_Mutation_p.S1183F|KIF21A_uc010skl.2_Missense_Mutation_p.S1199F	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1219					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCCTATCTTAGAAGGTAAGCC	0.403													8	84					0	0	1	0	0	A	39716485	G	A	39716485	3	1	57	1	0	0	0	0	1	0	0	0	8288	942	33	2	1416	2	KIF21A	12	39716485	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		39716485	94135410	20	1068											
TBX3	6926	broad.mit.edu	37	chr12	115120663	115120663	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgccccgcttgtgaaactGatcccaaagttctttagcct	9	12	1	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:115120663G>A	uc001tvt.1	-	0	1307	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	TBX3_uc001tvu.1_Nonsense_Mutation_p.Q115*|TBX3_uc010syw.1_Nonsense_Mutation_p.Q115*	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	115					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGTGAAACTGATCCCAAAGT	0.572													7	64					0	0	1	0	0	A	115120663	G	A	115120663	4	1	57	1	0	0	0	0	0	1	0	0	15656	1299	45	2	1920	2	TBX3	12	115120663	Nonsense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	75404178	115120663	18731232	21	1069											
POLE	5426	broad.mit.edu	37	chr12	133220461	133220461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgatgtctggcgctgacaGctcagcgttgatctcgttga	12	11	3	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:133220461G>A	uc001uks.1	-	32	4296	c.4252C>T	c.(4252-4254)Ctg>Ttg	p.L1418L	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.L222L|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.L1391L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1418					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGCGCTGACAGCTCAGCGTTG	0.542								DNA polymerases (catalytic subunits)					3	41					0	0	1	0	0	A	133220461	G	A	133220461	2	1	57	1	0	0	0	0	0	0	0	1	12196	962	34	2		2	POLE	12	133220461	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	18099798	133220461	631434	22	1070											
PTGR2	145482	broad.mit.edu	37	chr14	74340912	74340912	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctggatggaaatagccttGaaaaggtgatatatatatga	10	3	1	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:74340912G>A	uc001xow.3	+	3	503	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PTGR2_uc010tue.2_Missense_Mutation_p.E115K|PTGR2_uc001xox.3_Missense_Mutation_p.E115K|ZNF410_uc001xoy.2_Non-coding_Transcript	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN	Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.	115					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						AAATAGCCTTGAAAAGGTGAT	0.328													9	77					0	0	1	0	0	A	74340912	G	A	74340912	3	1	57	1	0	0	0	0	1	0	0	0	12754	1291	45	2	353	2	PTGR2	14	74340912	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		74340912	33008628	23	1071											
AHNAK2	113146	broad.mit.edu	37	chr14	105416999	105416999	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagcttggggcccttaacatCtatctggggccccttgaggt	12	12	2	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:105416999C>G	uc010axc.1	-	6	4909	c.4789G>C	c.(4789-4791)Gat>Cat	p.D1597H	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D1497H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1597						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTAACATCTATCTGGGGC	0.607													7	89					0	0	1	0	0	G	105416999	C	G	105416999	3	3	57	1	0	0	0	0	1	0	0	0	415	913	32	4	12602	4	AHNAK2	14	105416999	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	31076087	105416999	1932541	24	1072											
C15orf63	25764	broad.mit.edu	37	chr15	44093955	44093955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagaacgcagtttgcGggaacacatgggcaacgtgg	15	9	0	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44093955G>A	uc001ztb.3	+	5	962	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Missense_Mutation_p.R114Q|C15orf63_uc021skf.1_3'UTR|C15orf63_uc001ztg.1_3'UTR	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN	Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.	114										endometrium(1)|large_intestine(1)|ovary(1)	3						CGCAGTTTGCGGGAACACATG	0.428													11	61					0	0	1	0	0	A	44093955	G	A	44093955	3	1	57	1	0	0	0	0	1	0	0	0	1809	1116	39	1	355	1	C15orf63	15	44093955	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		44093955	58437437	25	1073											
WDR76	79968	broad.mit.edu	37	chr15	44120432	44120432	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagaatccacgctgcaAaattcatcctcagctgttca	7	12	3	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44120432A>G	uc001zti.2	+	1	449	c.330A>G	c.(328-330)caA>caG	p.Q110Q	WDR76_uc021skg.1_Silent_p.Q46Q	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	110										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CCACGCTGCAAAATTCATCCT	0.408													24	69					0	0	1	0	0	G	44120432	A	G	44120432	2	3	57	1	0	0	0	0	0	0	0	1	17323	11	1	3		3	WDR76	15	44120432	Silent	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	26477	44120432	58410960	26	1074											
SPATA5L1	79029	broad.mit.edu	37	chr15	45695663	45695663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttgtgggagccactaacCggccggacgctctagaccca	13	13	1	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:45695663C>T	uc001zve.3	+	0	1145	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	346						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGCCACTAACCGGCCGGACGC	0.682													3	66					0	0	1	0	0	T	45695663	C	T	45695663	3	4	57	1	0	0	0	0	1	0	0	0	15011	643	23	1	1038	1	SPATA5L1	15	45695663	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	1575231	45695663	56835729	27	1075											
FBN1	2200	broad.mit.edu	37	chr15	48802244	48802244	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagtatactattattaccttCacagttcttcccatctcgtg	4	11	3	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:48802244C>T	uc001zwx.2	-	13	2106	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	571	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTATTACCTTCACAGTTCTTC	0.408													6	56					0	0	1	0	0	T	48802244	C	T	48802244	3	4	57	1	0	0	0	0	1	0	0	0	5702	835	29	2	7116	2	FBN1	15	48802244	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	3106581	48802244	53729148	28	1076											
SECISBP2L	9728	broad.mit.edu	37	chr15	49320810	49320810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgctcttcttctcctgCccttggacttccagagcatt	9	13	3	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:49320810C>T	uc001zxe.2	-	4	998	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SECISBP2L_uc001zxd.2_Missense_Mutation_p.G245D|SECISBP2L_uc010bep.2_Missense_Mutation_p.G7D|SECISBP2L_uc010beq.2_Intron	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	245										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCTTCTCCTGCCCTTGGACTT	0.473													7	93					0	0	1	0	0	T	49320810	C	T	49320810	3	4	57	1	0	0	0	0	1	0	0	0	14007	739	26	2	2488	2	SECISBP2L	15	49320810	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	518566	49320810	53210582	29	1077											
HSD3B7	80270	broad.mit.edu	37	chr16	30997755	30997755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccaggtacccggaacGtgatcgaggcttgtgtgcag	14	11	1	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr16:30997755G>A	uc002eaf.2	+	3	440	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	HSD3B7_uc010cac.2_Missense_Mutation_p.V112M|HSD3B7_uc002eag.2_Missense_Mutation_p.V112M|HSD3B7_uc002eah.2_Missense_Mutation_p.V112M	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	112					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACCCGGAACGTGATCGAGGC	0.577													10	30					0	0	1	0	0	A	30997755	G	A	30997755	3	1	57	1	0	0	0	0	1	0	0	0	7392	1145	40	1	344	1	HSD3B7	16	30997755	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		30997755	59356998	30	1078											
RNF213	57674	broad.mit.edu	37	chr17	78362950	78362950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacccagcccacagacatccCtctcctgcttttcatttccc	3	19	2	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr17:78362950C>A	uc010dhx.2	+	2	922	c.29C>A	c.(28-30)cCt>cAt	p.P10H	RNF213_uc002jyh.2_Intron|RNF213_uc021uen.1_Intron|LOC100294362_uc002jyi.2_Intron			Q9HCF4	ALO17_HUMAN	Homo sapiens mRNA for KIAA1554 protein, partial cds.	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGACATCCCTCTCCTGCTT	0.582													3	67					0	0	1	0	0	A	78362950	C	A	78362950	3	1	57	1	0	0	0	0	1	0	0	0	13477	696	24	4		4	RNF213	17	78362950	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		78362950	2832260	31	1079											
WDR45L	56270	broad.mit.edu	37	chr17	80583323	80583323	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggggattgtgtgtgaatgtGaacaccttaatcatggagtc	13	5	1	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr17:80583323G>C	uc002kfq.3	-	4	564	c.369C>G	c.(367-369)ttC>ttG	p.F123L	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	123					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			GTGTGAATGTGAACACCTTAA	0.453													6	62					0	0	1	0	0	C	80583323	G	C	80583323	3	2	57	1	0	0	0	0	1	0	0	0	17295	1281	45	4	689	4	WDR45L	17	80583323	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	2220373	80583323	611887	32	1080											
OR7A5	26659	broad.mit.edu	37	chr19	14938639	14938639	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaccagcagtccacagaggtGagggttcataatgaccatgt	11	9	1	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:14938639G>T	uc010xoa.2	-	1	503	c.415C>A	c.(415-417)Cac>Aac	p.H139N	OR7A5_uc002mzw.3_Missense_Mutation_p.H139N	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CCACAGAGGTGAGGGTTCATA	0.498													11	54					0	0	1	0	0	T	14938639	G	T	14938639	3	4	57	1	0	0	0	0	1	0	0	0	11216	1290	45	4	548	4	OR7A5	19	14938639	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		14938639	44190344	33	1081											
RYR1	6261	broad.mit.edu	37	chr19	38958277	38958277	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaccagtctcgttgtgAccgggtgcgcatcttccggg	15	11	2	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:38958277A>T	uc002oit.3	+	24	3336	c.3206A>T	c.(3205-3207)gAc>gTc	p.D1069V	RYR1_uc002oiu.3_Missense_Mutation_p.D1069V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1069	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTCGTTGTGACCGGGTGCGC	0.557													23	109					0	0	1	0	0	T	38958277	A	T	38958277	3	4	57	1	0	0	0	0	1	0	0	0	13768	275	10	5	3304	5	RYR1	19	38958277	Missense_Mutation	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	24019638	38958277	20170706	34	1082											
CACNG7	59284	broad.mit.edu	37	chr19	54418665	54418665	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccatggtcagcctcttcctCgtgttcacggccttcgtcat	8	16	4	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:54418665C>T	uc002qcr.2	+	2	425	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CACNG7_uc010era.2_Silent_p.L110L	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	110					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTCTTCCTCGTGTTCACGG	0.607													7	81					0	0	1	0	0	T	54418665	C	T	54418665	2	4	57	1	0	0	0	0	0	0	0	1	2562	871	31	1		1	CACNG7	19	54418665	Silent	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	15460388	54418665	4710318	35	1083											
FERMT1	55612	broad.mit.edu	37	chr20	6068514	6068514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgctacatttacatcGggcacaacttcgcagcctga	7	14	0	1			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:6068514G>A	uc002wmr.3	-	10	2070	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	FERMT1_uc002wmq.3_5'UTR|FERMT1_uc010gbt.3_Silent_p.P170P|FERMT1_uc002wms.3_Silent_p.P427P	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	427	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CATTTACATCGGGCACAACTT	0.383													26	100					0	0	1	0	0	A	6068514	G	A	6068514	2	1	57	1	0	0	0	0	0	0	0	1	5817	1103	39	1		1	FERMT1	20	6068514	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		6068514	56957006	36	1084											
ANKRD5	63926	broad.mit.edu	37	chr20	10025162	10025162	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acgacaggcatcacgctgctCattttgctgctaaaggaggc	11	11	2	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:10025162C>G	uc002wno.3	+	4	1060	c.667C>G	c.(667-669)Cat>Gat	p.H223D	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.H223D|ANKRD5_uc010gbz.3_Missense_Mutation_p.H34D	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	223							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TCACGCTGCTCATTTTGCTGC	0.368													14	140					0	0	1	0	0	G	10025162	C	G	10025162	3	3	57	1	0	0	0	0	1	0	0	0	676	826	29	4	677	4	ANKRD5	20	10025162	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	3956648	10025162	53000358	37	1085											
EEF1A2	1917	broad.mit.edu	37	chr20	62121972	62121972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagcttcgctcagagcctCgtggtgcatctccactgact	10	14	2	3			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:62121972C>T	uc002yfe.1	-	5	1055	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	297						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCAGAGCCTCGTGGTGCATC	0.627													23	91					0	0	1	0	0	T	62121972	C	T	62121972	3	4	57	1	0	0	0	0	1	0	0	0	4924	893	31	1	514	1	EEF1A2	20	62121972	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	52096810	62121972	903548	38	1086											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31851280	31851280	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccccgagttctgtccaggaGagaggatggcttgctccaga	13	11	1	2			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:31851280G>C	uc003akz.2	-	8	1319	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	EIF4ENIF1_uc003akx.2_Missense_Mutation_p.S53C|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.S53C|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.S374C|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.S211C	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	374						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGTCCAGGAGAGAGGATGGC	0.378													6	46					0	0	1	0	0	C	31851280	G	C	31851280	3	2	57	1	0	0	0	0	1	0	0	0	5035	942	33	4	1883	4	EIF4ENIF1	22	31851280	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		31851280	19453286	39	1087											
SBF1	6305	broad.mit.edu	37	chr22	50894771	50894771	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gccttcacctgccgtgcctcGaatacctcaatgggcaccag	9	16	2	0			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:50894771G>C	uc003blh.3	-	30	4335	c.4140C>G	c.(4138-4140)ttC>ttG	p.F1380L	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Missense_Mutation_p.F1018L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1354	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGTGCCTCGAATACCTCAA	0.617													5	43					0	0	1	0	0	C	50894771	G	C	50894771	3	2	57	1	0	0	0	0	1	0	0	0	13858	1049	37	4	1585	4	SBF1	22	50894771	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	19043491	50894771	409795	40	1088											
KCNT2	343450	broad.mit.edu	37	chr1	196577366	196577366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgttttgccatcctTggtcccctagcagcaaatct	8	13	1	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr1:196577366T>C	uc001gtd.1	-	0	134	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	KCNT2_uc001gte.1_Missense_Mutation_p.Q25R|KCNT2_uc001gtf.1_Missense_Mutation_p.Q25R|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.Q25R|KCNT2_uc009wyv.1_Missense_Mutation_p.Q25R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	25						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGCCATCCTTGGTCCCCTAG	0.512													3	148					0	0	1	0	0	C	196577366	T	C	196577366	3	2	58	1	0	0	0	0	1	0	0	0	8092	1812	63	3	3445	3	KCNT2	1	196577366	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		196577366	52673255	1	1089											
AGAP1	116987	broad.mit.edu	37	chr2	236957789	236957789	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttggcacccacctttccCgagtccgatctctggacctg	8	16	2	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr2:236957789C>A	uc002vvs.3	+	15	2576	c.1978C>A	c.(1978-1980)Cga>Aga	p.R660R	AGAP1_uc002vvt.3_Silent_p.R607R	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	660	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCACCTTTCCCGAGTCCGATC	0.567													3	116					0	0	1	0	0	A	236957789	C	A	236957789	2	1	58	1	0	0	0	0	0	0	0	1	366	644	23	4		4	AGAP1	2	236957789	Silent	SNP	C	TCGA-DJ-A13M-01A-11D-A10S-08		236957789	6241584	2	1090											
ANP32C	23520	broad.mit.edu	37	chr4	165118489	165118489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacgttttctccgtagtcGttcaggttggttacctcgca	9	11	2	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr4:165118489G>A	uc011cjk.2	-	0	375	c.375C>T	c.(373-375)aaC>aaT	p.N125N	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	125										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CTCCGTAGTCGTTCAGGTTGG	0.458													66	117					0	0	1	0	0	A	165118489	G	A	165118489	2	1	58	1	0	0	0	0	0	0	0	1	707	1136	40	1		1	ANP32C	4	165118489	Silent	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		165118489	26035787	3	1091											
TBX20	57057	broad.mit.edu	37	chr7	35280519	35280519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtaggcagtgactgccGtaaaaactgtttctggaaag	12	7	2	1			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr7:35280519G>A	uc011kas.2	-	4	1265	c.785C>T	c.(784-786)aCg>aTg	p.T262M		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	262						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGTGACTGCCGTAAAAACTGT	0.403													28	42					0	0	1	0	0	A	35280519	G	A	35280519	3	1	58	1	0	0	0	0	1	0	0	0	15653	1145	40	1	575	1	TBX20	7	35280519	Missense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		35280519	123858144	4	1092											
ZNHIT1	10467	broad.mit.edu	37	chr7	100865924	100865924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggcgggtgctggaccGggctgcccggcagcgtcgca	19	14	0	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr7:100865924G>A	uc003uye.3	+	1	554	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	ZNHIT1_uc003uyf.3_Non-coding_Transcript	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA.	21							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GTGCTGGACCGGGCTGCCCGG	0.667													3	97					0	0	1	0	0	A	100865924	G	A	100865924	3	1	58	1	0	0	0	0	1	0	0	0	18203	1116	39	1	68	1	ZNHIT1	7	100865924	Missense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08	65585405	100865924	58272739	5	1093											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			62	79					0	0	1	0	0	C	533874	T	C	533874	3	2	58	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		533874	134472642	6	1094											
COL4A1	1282	broad.mit.edu	37	chr13	110830543	110830543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtccagtccagggaatcCggggaaacccttctctcctt	9	14	1	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr13:110830543C>T	uc001vqw.4	-	31	2616	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	832	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGGAATCCGGGGAAACCC	0.517													6	155					0	0	1	0	0	T	110830543	C	T	110830543	3	4	58	1	0	0	0	0	1	0	0	0	3689	661	23	1	2599	1	COL4A1	13	110830543	Missense_Mutation	SNP	C	TCGA-DJ-A13M-01A-11D-A10S-08		110830543	4339335	7	1095											
SLC5A2	6524	broad.mit.edu	37	chr16	31499763	31499763	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcggcacggaggtgggcTgctccaacatcgcctacccg	14	14	0	0			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr16:31499763T>G	uc002ecf.4	+	8	1100	c.1081T>G	c.(1081-1083)Tgc>Ggc	p.C361G	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	361					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GGAGGTGGGCTGCTCCAACAT	0.711													12	5					0	0	1	0	0	G	31499763	T	G	31499763	3	3	58	1	0	0	0	0	1	0	0	0	14665	1580	55	5	1115	5	SLC5A2	16	31499763	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		31499763	58854990	8	1096											
ENGASE	64772	broad.mit.edu	37	chr17	77073871	77073871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcccctggcgtgtcGccagccccctctgagcagcc	12	19	1	1			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr17:77073871G>A	uc002jwv.3	+	2	349	c.341G>A	c.(340-342)cGc>cAc	p.R114H	ENGASE_uc002jwu.1_Missense_Mutation_p.R114H|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	114						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.R114L(2)|p.R114C(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTGGCGTGTCGCCAGCCCCCT	0.582													27	46					0	0	1	0	0	A	77073871	G	A	77073871	3	1	58	1	0	0	0	0	1	0	0	0	5118	1087	38	1	351	1	ENGASE	17	77073871	Missense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		77073871	4121339	9	1097											
WDR62	284403	broad.mit.edu	37	chr19	36558892	36558892	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaatgagaagagggtgctgGagaagtggatcaacctgaag	15	5	2	4			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr19:36558892G>T	uc002odd.2	+	6	953	c.862G>T	c.(862-864)Gag>Tag	p.E288*	WDR62_uc002odc.2_Nonsense_Mutation_p.E288*|WDR62_uc002odb.2_Nonsense_Mutation_p.E288*	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	288					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGGTGCTGGAGAAGTGGAT	0.577													7	39					0	0	1	0	0	T	36558892	G	T	36558892	4	4	58	1	0	0	0	0	0	1	0	0	17310	1175	41	4	888	4	WDR62	19	36558892	Nonsense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		36558892	22570091	10	1098											
KCNK1	3775	broad.mit.edu	37	chr1	233750036	233750036	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcttcggcgcagtggTcttctcctcggtggagctgc	14	13	3	0			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr1:233750036T>A	uc010pxo.1	+	0	287	c.119T>A	c.(118-120)gTc>gAc	p.V40D		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	40						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GGCGCAGTGGTCTTCTCCTCG	0.657													6	31					0	0	1	0	0	A	233750036	T	A	233750036	3	1	59	1	0	0	0	0	1	0	0	0	8058	1667	58	5	121	5	KCNK1	1	233750036	Missense_Mutation	SNP	T	TCGA-DJ-A13O-01A-11D-A10S-08		233750036	15500585	1	1099											
BRD8	10902	broad.mit.edu	37	chr5	137504371	137504371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactcggcaaagtcccggGggttacctaagagacaacag	13	10	0	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr5:137504371G>A	uc003lcg.3	-	8	704	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	BRD8_uc003lcf.1_Intron|BRD8_uc011cyl.2_5'Flank|BRD8_uc021yea.1_Missense_Mutation_p.P73S|BRD8_uc003lci.3_Missense_Mutation_p.P217S|BRD8_uc011cym.2_Intron|BRD8_uc011cyn.1_Intron|BRD8_uc010jes.1_Intron	NM_006696	NP_006687	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 1, mRNA.	177					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGTCCCGGGGGTTACCTAA	0.483													7	50					0	0	1	0	0	A	137504371	G	A	137504371	3	1	59	1	0	0	0	0	1	0	0	0	1506	1232	43	2	3421	2	BRD8	5	137504371	Missense_Mutation	SNP	G	TCGA-DJ-A13O-01A-11D-A10S-08		137504371	43410889	2	1100											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	95					0	0	1	0	0	T	140453136	A	T	140453136	3	4	59	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13O-01A-11D-A10S-08		140453136	18685527	3	1101											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860031	42860031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcacagtactccgcaTagagagactcaaaacagcca	8	11	2	2			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr12:42860031T>C	uc010skv.2	-	5	1027	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	PRICKLE1_uc001rnl.3_Missense_Mutation_p.Y247C|PRICKLE1_uc010skw.2_Missense_Mutation_p.Y247C|PRICKLE1_uc001rnm.3_Missense_Mutation_p.Y247C	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	247	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTACTCCGCATAGAGAGACTC	0.522													12	57					0	0	1	0	0	C	42860031	T	C	42860031	3	2	59	1	0	0	0	0	1	0	0	0	12486	1406	49	3	1767	3	PRICKLE1	12	42860031	Missense_Mutation	SNP	T	TCGA-DJ-A13O-01A-11D-A10S-08		42860031	90991864	4	1102											
ANAPC5	51433	broad.mit.edu	37	chr12	121766258	121766258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtcttcccagcaaaagCtctctgttgaacaagggact	9	12	2	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr12:121766258C>T	uc001uag.3	-	9	1287	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	ANAPC5_uc010szu.2_Missense_Mutation_p.A55T|ANAPC5_uc001uae.3_5'UTR|ANAPC5_uc010szv.2_5'UTR|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.A277T	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	389					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGCAAAAGCTCTCTGTTGA	0.488													8	60					0	0	1	0	0	T	121766258	C	T	121766258	3	4	59	1	0	0	0	0	1	0	0	0	605	797	28	2	1134	2	ANAPC5	12	121766258	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08	78906227	121766258	12085637	5	1103											
PCDH8	5100	broad.mit.edu	37	chr13	53421761	53421761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccctcgtcggggtcggCtgcgtccaggtcgagaagca	16	12	0	1			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr13:53421761C>T	uc001vhi.3	-	0	1015	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	PCDH8_uc001vhj.3_Missense_Mutation_p.A271T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	271	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCGGGGTCGGCTGCGTCCAGG	0.716													2	4					0	0	1	0	0	T	53421761	C	T	53421761	3	4	59	1	0	0	0	0	1	0	0	0	11517	797	28	2	2413	2	PCDH8	13	53421761	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08		53421761	61748117	6	1104											
CLCN6	1185	broad.mit.edu	37	chr1	11888618	11888618	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgggagccacattcaactGtctgaacaagaggcttgcaa	10	11	2	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr1:11888618G>C	uc001ate.4	+	11	1171	c.1058G>C	c.(1057-1059)tGt>tCt	p.C353S	CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.2_Missense_Mutation_p.C69S|CLCN6_uc010oau.2_Missense_Mutation_p.C331S	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	353					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTCAACTGTCTGAACAAG	0.537													4	399					0	0	1	0	0	C	11888618	G	C	11888618	3	2	60	1	0	0	0	0	1	0	0	0	3467	1377	48	4	1114	4	CLCN6	1	11888618	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		11888618	237362003	1	1105											
PPOX	5498	broad.mit.edu	37	chr1	161140206	161140206	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccttctctccagggatttgGacatttggtgccatcttcag	9	11	3	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr1:161140206G>C	uc001fyj.2	+	9	1285	c.995G>C	c.(994-996)gGa>gCa	p.G332A	PPOX_uc001fyg.2_Missense_Mutation_p.G332A|PPOX_uc010pkg.1_Missense_Mutation_p.G170A|PPOX_uc001fyi.2_Missense_Mutation_p.G170A|PPOX_uc010pkh.1_Missense_Mutation_p.G77A	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	332					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGATTTGGACATTTGGTG	0.557													3	104					0	0	1	0	0	C	161140206	G	C	161140206	3	2	60	1	0	0	0	0	1	0	0	0	12348	1174	41	4	1029	4	PPOX	1	161140206	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08	149251588	161140206	88110415	2	1106											
LRRTM4	80059	broad.mit.edu	37	chr2	77746748	77746748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatataagctggttaaggcCggcaaactgattggatttga	11	7	0	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr2:77746748C>T	uc002snr.3	-	2	662	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	LRRTM4_uc002snq.3_Missense_Mutation_p.G83S|LRRTM4_uc002sns.2_Missense_Mutation_p.G83S|LRRTM4_uc002snt.2_Missense_Mutation_p.G84S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	83						integral to membrane		p.G83C(3)|p.A82V(1)|p.A82A(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGTTAAGGCCGGCAAACTGA	0.403													4	122					0	0	1	0	0	T	77746748	C	T	77746748	3	4	60	1	0	0	0	0	1	0	0	0	9042	652	23	1	1539	1	LRRTM4	2	77746748	Missense_Mutation	SNP	C	TCGA-DJ-A13P-01A-11D-A10S-08		77746748	165452625	3	1107											
TBC1D5	9779	broad.mit.edu	37	chr3	17349528	17349528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctacgaagatataatctActaaacccaggctgaggccg	10	10	1	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr3:17349528A>G	uc010hev.3	-	14	1358	c.1094T>C	c.(1093-1095)gTa>gCa	p.V365A	TBC1D5_uc010heu.3_5'UTR|TBC1D5_uc003cbf.3_Missense_Mutation_p.V365A|TBC1D5_uc003cbe.3_Missense_Mutation_p.V365A|TBC1D5_uc010hew.1_Missense_Mutation_p.V317A	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	365						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GATATAATCTACTAAACCCAG	0.463													3	83					0	0	1	0	0	G	17349528	A	G	17349528	3	3	60	1	0	0	0	0	1	0	0	0	15620	391	14	3	1399	3	TBC1D5	3	17349528	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		17349528	180672902	4	1108											
HNRPDL	9987	broad.mit.edu	37	chr4	83349287	83349287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaagctttggcccttttggGatctatcaatttgccatcca	7	10	2	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr4:83349287G>A	uc003hmr.3	-	2	1193	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.P220S	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	220	RRM 1.				RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				GCCCTTTTGGGATCTATCAAT	0.373													6	120					0	0	1	0	0	A	83349287	G	A	83349287	3	1	60	1	0	0	0	0	1	0	0	0	7276	1174	41	2	624	2	HNRPDL	4	83349287	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		83349287	107804989	5	1109											
C5orf42	65250	broad.mit.edu	37	chr5	37169637	37169637	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctggccatttaattgacaTaaaggaatactcccatgtgg	10	8	0	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr5:37169637T>A	uc011cpa.1	-	33	6720	c.6489A>T	c.(6487-6489)ttA>ttT	p.L2163F	C5orf42_uc011coy.1_Missense_Mutation_p.L663F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.L1238F|C5orf42_uc003jkr.1_Missense_Mutation_p.L196F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2163										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTAATTGACATAAAGGAATAC	0.368													40	63					0	0	1	0	0	A	37169637	T	A	37169637	3	1	60	1	0	0	0	0	1	0	0	0	2301	1403	49	5	3180	5	C5orf42	5	37169637	Missense_Mutation	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08		37169637	143745623	6	1110											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				49	81					0	0	1	0	0	T	140453136	A	T	140453136	3	4	60	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		140453136	18685527	7	1111											
ANXA1	301	broad.mit.edu	37	chr9	75775259	75775259	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctaaaaactccagcgcaAtttgatgctgatgaacttcg	8	10	0	3			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr9:75775259A>G	uc004ajf.1	+	4	425	c.351A>G	c.(349-351)caA>caG	p.Q117Q	ANXA1_uc004ajg.1_Silent_p.Q117Q	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	117					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CTCCAGCGCAATTTGATGCTG	0.428													3	152					0	0	1	0	0	G	75775259	A	G	75775259	2	3	60	1	0	0	0	0	0	0	0	1	714	98	4	3		3	ANXA1	9	75775259	Silent	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		75775259	65438172	8	1112											
PTGR1	22949	broad.mit.edu	37	chr9	114345802	114345802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacagctccagctgctgCattaaccatcactgtttctc	6	16	2	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr9:114345802C>T	uc010mue.3	-	5	708	c.445G>A	c.(445-447)Gca>Aca	p.A149T	PTGR1_uc011lwr.2_Missense_Mutation_p.A149T|PTGR1_uc004bfh.2_Missense_Mutation_p.A149T|PTGR1_uc004bfi.3_Missense_Mutation_p.A149T|PTGR1_uc004bfj.3_Missense_Mutation_p.A26T	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN	Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.	149					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CCAGCTGCTGCATTAACCATC	0.448													5	284					0	0	1	0	0	T	114345802	C	T	114345802	3	4	60	1	0	0	0	0	1	0	0	0	12753	710	25	2	595	2	PTGR1	9	114345802	Missense_Mutation	SNP	C	TCGA-DJ-A13P-01A-11D-A10S-08	38570543	114345802	26867629	9	1113											
AGAP11	119385	broad.mit.edu	37	chr10	88768854	88768854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgattgtgtccgtcactgGccaaacgtgccactttaaag	9	10	1	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr10:88768854G>A	uc001kee.2	+	11	2049	c.845G>A	c.(844-846)gGc>gAc	p.G282D	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	282	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TCCGTCACTGGCCAAACGTGC	0.507													4	284					0	0	1	0	0	A	88768854	G	A	88768854	3	1	60	1	0	0	0	0	1	0	0	0	367	1203	42	2	859	2	AGAP11	10	88768854	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		88768854	46765893	10	1114											
CD44	960	broad.mit.edu	37	chr11	35232956	35232956	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggagttactgcagttacTgttggagattccaactctaa	9	7	1	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr11:35232956T>C	uc001mvu.3	+	13	2204	c.1770T>C	c.(1768-1770)acT>acC	p.T590T	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Silent_p.T547T|CD44_uc001mvw.3_Silent_p.T341T|CD44_uc001mwc.4_Silent_p.T277T|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Silent_p.T118T|CD44_uc010res.2_Silent_p.T154T|CD44_uc010ret.2_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	590	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CTGCAGTTACTGTTGGAGATT	0.398													8	262					0	0	1	0	0	C	35232956	T	C	35232956	2	2	60	1	0	0	0	0	0	0	0	1	3017	1567	55	3		3	CD44	11	35232956	Silent	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08		35232956	99773560	11	1115											
MLL	4297	broad.mit.edu	37	chr11	118374769	118374769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaaatctcacagttggAtggtgttgatgatgggacag	12	6	1	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr11:118374769A>T	uc001ptb.3	+	26	8185	c.8162A>T	c.(8161-8163)gAt>gTt	p.D2721V	MLL_uc001pta.3_Missense_Mutation_p.D2718V	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.	2718					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TCACAGTTGGATGGTGTTGAT	0.428			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								5	64					0	0	1	0	0	T	118374769	A	T	118374769	3	4	60	1	0	0	0	0	1	0	0	0	9620	333	12	5	8259	5	MLL	11	118374769	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08	83141813	118374769	16631747	12	1116											
HOXC12	3228	broad.mit.edu	37	chr12	54348806	54348806	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacttccccaacttccgcgcGtccggggcgcagcttcccgg	11	18	0	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr12:54348806G>T	uc010soq.2	+	0	93	c.93G>T	c.(91-93)gcG>gcT	p.A31A		NM_173860	NP_776272	P31275	HXC12_HUMAN	Homo sapiens homeobox C12 (HOXC12), mRNA.	31					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						ACTTCCGCGCGTCCGGGGCGC	0.652													6	45					0	0	1	0	0	T	54348806	G	T	54348806	2	4	60	1	0	0	0	0	0	0	0	1	7311	1132	40	4		4	HOXC12	12	54348806	Silent	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		54348806	79503089	13	1117											
ZNF268	10795	broad.mit.edu	37	chr12	133780834	133780834	+	Frame_Shift_Del	DEL	C	C	-													aaattacgccttcttgtacaCcagagaatgcacacaagaga							TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr12:133780834delC	uc010tcf.2	+	5	2892	c.2562delC	c.(2560-2562)cacfs	p.H854fs	ZNF268_uc010tbv.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tbz.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tcc.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tcd.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc010tch.2_Frame_Shift_Del_p.H854fs|ZNF268_uc021rgu.1_Frame_Shift_Del_p.H771fs	NM_003415	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 1, mRNA.	854						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTCTTGTACACCAGAGAATGC	0.413													2	4	---	---	---	---						-	133780834	C	-	133780834	7	5	60	1	0	1	0	1	0	0	0	0	17804	506	18	0		0	ZNF268	12	133780834	Frame_Shift_Del	DEL	C	TCGA-DJ-A13P-01A-11D-A10S-08	79432028	133780834	71061	14	1118											
ZFYVE26	23503	broad.mit.edu	37	chr14	68248225	68248225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcatccttcacgggaaacAggtattgccaaccttctttg	8	11	2	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr14:68248225A>G	uc001xka.2	-	21	4533	c.4394T>C	c.(4393-4395)cTg>cCg	p.L1465P	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.L1465P	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1465					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACGGGAAACAGGTATTGCCA	0.498													3	157					0	0	1	0	0	G	68248225	A	G	68248225	3	3	60	1	0	0	0	0	1	0	0	0	17665	188	7	3	3309	3	ZFYVE26	14	68248225	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		68248225	39101315	15	1119											
NEO1	4756	broad.mit.edu	37	chr15	73528814	73528814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacggagacaaccttacctActctgtgttctacaccaagg	7	13	3	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr15:73528814A>G	uc002avm.4	+	7	1610	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	NEO1_uc010ukx.2_Missense_Mutation_p.Y473C|NEO1_uc010uky.2_Missense_Mutation_p.Y473C|NEO1_uc002avn.4_Missense_Mutation_p.Y493C|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	473	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACCTTACCTACTCTGTGTTC	0.562													4	239					0	0	1	0	0	G	73528814	A	G	73528814	3	3	60	1	0	0	0	0	1	0	0	0	10336	391	14	3	1448	3	NEO1	15	73528814	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		73528814	29002578	16	1120											
FAM64A	54478	broad.mit.edu	37	chr17	6348539	6348539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctgtggtcagccatcagGagacctctgtaggggccctg	14	12	3	1			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr17:6348539G>A	uc002gcw.2	+	1	218	c.109G>A	c.(109-111)Gag>Aag	p.E37K	FAM64A_uc002gcu.2_Missense_Mutation_p.E37K	NM_001195228	NP_001182157	Q9BSJ6	FA64A_HUMAN	Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA.	37						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CAGCCATCAGGAGACCTCTGT	0.647													22	32					0	0	1	0	0	A	6348539	G	A	6348539	3	1	60	1	0	0	0	0	1	0	0	0	5598	1175	41	2	111	2	FAM64A	17	6348539	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		6348539	74846671	17	1121											
GPATCH1	55094	broad.mit.edu	37	chr19	33592467	33592467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttggcttctaaaccttTatcttctaagaaagtaagaa	5	8	3	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr19:33592467T>C	uc002nug.1	+	8	1381	c.1067T>C	c.(1066-1068)tTa>tCa	p.L356S		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	356						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCTAAACCTTTATCTTCTAAG	0.308													3	93					0	0	1	0	0	C	33592467	T	C	33592467	3	2	60	1	0	0	0	0	1	0	0	0	6590	1764	61	3	1101	3	GPATCH1	19	33592467	Missense_Mutation	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08		33592467	25536516	18	1122											
OFD1	8481	broad.mit.edu	37	chrX	13778527	13778527	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacgcttggaaaaggctttcAgaagttaccatcggagagtc	11	8	1	2			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chrX:13778527A>T	uc004cvp.4	+	15	2307	c.1948A>T	c.(1948-1950)Aga>Tga	p.R650*	OFD1_uc004cvr.4_Nonsense_Mutation_p.R217*|OFD1_uc011mil.2_Nonsense_Mutation_p.R217*|OFD1_uc004cvq.4_Nonsense_Mutation_p.R510*|OFD1_uc010nen.3_Nonsense_Mutation_p.R649*|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Nonsense_Mutation_p.R609*|OFD1_uc004cvv.4_Nonsense_Mutation_p.R609*	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	650	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAAGGCTTTCAGAAGTTACCA	0.478													42	138					0	0	1	0	0	T	13778527	A	T	13778527	4	4	60	1	0	0	0	0	0	1	0	0	10838	180	7	5	2010	5	OFD1	23	13778527	Nonsense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		13778527	141492033	19	1123											
PHEX	5251	broad.mit.edu	37	chrX	22112115	22112115	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagtatcgggatgccctTtacaagttcatggtggatac	10	8	1	0			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chrX:22112115T>G	uc004dah.3	+	6	950	c.747T>G	c.(745-747)ctT>ctG	p.L249L	PHEX_uc011mjr.2_Silent_p.L249L|PHEX_uc011mjs.2_Silent_p.L152L	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	249					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGGATGCCCTTTACAAGTTCA	0.413													23	233					0	0	1	0	0	G	22112115	T	G	22112115	2	3	60	1	0	0	0	0	0	0	0	1	11819	1828	64	5		5	PHEX	23	22112115	Silent	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08	8333588	22112115	133158445	20	1124											
C1orf216	127703	broad.mit.edu	37	chr1	36181503	36181503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagggcagaaggggatcGggagggccagggcctcgcgg	21	9	0	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr1:36181503G>A	uc001bzh.1	-	1	908	c.420C>T	c.(418-420)ccC>ccT	p.P140P	C1orf216_uc021oli.1_Silent_p.P140P	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	Homo sapiens chromosome 1 open reading frame 216 (C1orf216), mRNA.	140										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GAAGGGGATCGGGAGGGCCAG	0.617											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	198					0	0	1	0	0	A	36181503	G	A	36181503	2	1	61	1	0	0	0	0	0	0	0	1	2031	1103	39	1		1	C1orf216	1	36181503	Silent	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		36181503	213069118	1	1125											
SNX7	51375	broad.mit.edu	37	chr1	99161131	99161131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagcaggatggggcaaaccGtcagagctgttgcgtcctca	13	10	2	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr1:99161131G>T	uc010ouc.2	+	4	749	c.697G>T	c.(697-699)Gtc>Ttc	p.V233F	SNX7_uc001dsa.3_Missense_Mutation_p.V169F|SNX7_uc010oud.2_Missense_Mutation_p.V178F	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	169					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GGGGCAAACCGTCAGAGCTGT	0.403													33	75					0	0	1	0	0	T	99161131	G	T	99161131	3	4	61	1	0	0	0	0	1	0	0	0	14907	1145	40	4	715	4	SNX7	1	99161131	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	62979628	99161131	150089490	2	1126											
NPAS2	4862	broad.mit.edu	37	chr2	101592002	101592002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagagttacctgtcccCgggctcagccaggcagccac	10	18	1	1	rs140730823	byFrequency	TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr2:101592002C>T	uc010yvt.1	+	13	1562	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	NPAS2_uc002tap.1_Silent_p.P455P|NPAS2_uc010fit.1_Silent_p.P33P	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	455					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TACCTGTCCCCGGGCTCAGCC	0.612													6	256					0	0	1	0	0	T	101592002	C	T	101592002	2	4	61	1	0	0	0	0	0	0	0	1	10563	639	23	1		1	NPAS2	2	101592002	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		101592002	141607371	3	1127											
SI	6476	broad.mit.edu	37	chr3	164741469	164741469	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtatttagttggaggtcagcTgttatacccatggatgaata	11	5	1	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr3:164741469T>A	uc003fei.3	-	25	3051	c.2988A>T	c.(2986-2988)acA>acT	p.T996T		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	996	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGAGGTCAGCTGTTATACCCA	0.403										HNSCC(35;0.089)			29	75					0	0	1	0	0	A	164741469	T	A	164741469	2	1	61	1	0	0	0	0	0	0	0	1	14297	1567	55	5		5	SI	3	164741469	Silent	SNP	T	TCGA-DJ-A13R-01A-11D-A10S-08		164741469	33280961	4	1128											
CLCN3	1182	broad.mit.edu	37	chr4	170628369	170628369	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcataatgtcaaaagaatctCagagattagtgggatttgcc	9	6	3	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr4:170628369C>T	uc003ish.3	+	10	2660	c.2101C>T	c.(2101-2103)Cag>Tag	p.Q701*	CLCN3_uc003isi.3_Nonsense_Mutation_p.Q701*|CLCN3_uc011cka.2_Nonsense_Mutation_p.Q674*|CLCN3_uc011cjz.2_Nonsense_Mutation_p.Q684*|CLCN3_uc003isj.2_Nonsense_Mutation_p.Q674*	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	701	CBS 1.				endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAAAGAATCTCAGAGATTAGT	0.358													47	154					0	0	1	0	0	T	170628369	C	T	170628369	4	4	61	1	0	0	0	0	0	1	0	0	3464	827	29	2	2139	2	CLCN3	4	170628369	Nonsense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		170628369	20525907	5	1129											
HCN1	348980	broad.mit.edu	37	chr5	45262699	45262699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtcgctgtgtacaccGgtggagattgtgtcctcatg	15	9	1	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr5:45262699G>A	uc003jok.3	-	7	2022	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	666						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577													4	103					0	0	1	0	0	A	45262699	G	A	45262699	3	1	61	1	0	0	0	0	1	0	0	0	6996	1116	39	1	679	1	HCN1	5	45262699	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		45262699	135652561	6	1130											
KIF4B	285643	broad.mit.edu	37	chr5	154395057	154395057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaggaagatgactcagaaCgacaaccaactacagcccat	8	11	1	3			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr5:154395057C>T	uc010jih.1	+	0	1798	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	546					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACTCAGAACGACAACCAAC	0.418													22	50					0	0	1	0	0	T	154395057	C	T	154395057	2	4	61	1	0	0	0	0	0	0	0	1	8304	535	19	1		1	KIF4B	5	154395057	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	109132358	154395057	26520203	7	1131											
FAM50B	26240	broad.mit.edu	37	chr6	3850220	3850220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attacgacgccgtggaggccGagctgaagtccagcacggtg	15	11	0	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr6:3850220G>A	uc003mvu.3	+	1	287	c.175G>A	c.(175-177)Gag>Aag	p.E59K	FAM50B_uc021ykt.1_Missense_Mutation_p.E59K	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	59						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGTGGAGGCCGAGCTGAAGTC	0.662													15	30					0	0	1	0	0	A	3850220	G	A	3850220	3	1	61	1	0	0	0	0	1	0	0	0	5578	1059	37	1	177	1	FAM50B	6	3850220	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		3850220	167264847	8	1132											
C9orf86	55684	broad.mit.edu	37	chr9	139733836	139733836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgagcaggcctcctcGtcggagagtgaccccgaggg	17	11	0	3			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr9:139733836G>A	uc004cjj.1	+	11	2116	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	C9orf86_uc004cji.1_Silent_p.S552S|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Silent_p.S437S|C9orf86_uc004cjn.1_Silent_p.S346S	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	552					small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		AGGCCTCCTCGTCGGAGAGTG	0.642													6	32					0	0	1	0	0	A	139733836	G	A	139733836	2	1	61	1	0	0	0	0	0	0	0	1	2502	1132	40	1		1	C9orf86	9	139733836	Silent	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		139733836	1479595	9	1133											
ARRB1	408	broad.mit.edu	37	chr11	74979939	74979939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagattctgctcaccttcccGatgcgggggttcctctttgg	11	13	3	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr11:74979939G>A	uc001owe.2	-	13	1311	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	ARRB1_uc001owf.2_Missense_Mutation_p.R355W	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	363	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.T362R(2)		breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TCACCTTCCCGATGCGGGGGT	0.627													49	108					0	0	1	0	0	A	74979939	G	A	74979939	3	1	61	1	0	0	0	0	1	0	0	0	980	1057	37	1	181	1	ARRB1	11	74979939	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		74979939	60026577	10	1134											
IRAK4	51135	broad.mit.edu	37	chr12	44172022	44172022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccaccactttcttggcaCatgagatgcaagattgctca	7	12	2	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr12:44172022C>T	uc001rnu.3	+	8	988	c.858C>T	c.(856-858)caC>caT	p.H286H	IRAK4_uc001rnt.3_Silent_p.H286H|IRAK4_uc001rnx.3_Silent_p.H162H|IRAK4_uc001rny.3_Silent_p.H162H|IRAK4_uc010sky.1_Silent_p.H162H|IRAK4_uc001rnv.3_Silent_p.H162H|IRAK4_uc001rnw.3_Silent_p.H162H	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	286	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTTCTTGGCACATGAGATGCA	0.303													25	73					0	0	1	0	0	T	44172022	C	T	44172022	2	4	61	1	0	0	0	0	0	0	0	1	7825	477	17	2		2	IRAK4	12	44172022	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		44172022	89679873	11	1135											
GCN1L1	10985	broad.mit.edu	37	chr12	120589045	120589045	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgcccaggcccttcaCcaggcccgccaggccatagg	13	16	1	0			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr12:120589045C>G	uc001txo.3	-	33	4226	c.4213G>C	c.(4213-4215)Gtg>Ctg	p.V1405L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1405					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCCCTTCACCAGGCCCGCC	0.602													5	98					0	0	1	0	0	G	120589045	C	G	120589045	3	3	61	1	0	0	0	0	1	0	0	0	6299	507	18	4	3902	4	GCN1L1	12	120589045	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	76417023	120589045	13262850	12	1136											
ZC3H13	23091	broad.mit.edu	37	chr13	46563027	46563027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggaggactctgctttcTctggggagacgacaaagaat	12	8	3	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr13:46563027T>C	uc010tfw.1	-	7	1156	c.1150A>G	c.(1150-1152)Aga>Gga	p.R384G	ZC3H13_uc001vas.1_Missense_Mutation_p.R384G|ZC3H13_uc001vat.1_Missense_Mutation_p.R384G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	384	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTGCTTTCTCTGGGGAGAC	0.483													5	56					0	0	1	0	0	C	46563027	T	C	46563027	3	2	61	1	0	0	0	0	1	0	0	0	17562	1559	54	3	3580	3	ZC3H13	13	46563027	Missense_Mutation	SNP	T	TCGA-DJ-A13R-01A-11D-A10S-08		46563027	68606851	13	1137											
ATL1	51062	broad.mit.edu	37	chr14	51054695	51054695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcggatccttctctcggagGctgtcagagacaaggaggtt	13	9	2	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:51054695G>A	uc021rsw.1	+	1	422	c.181G>A	c.(181-183)Gct>Act	p.A61T	ATL1_uc001wyd.4_Missense_Mutation_p.A61T|ATL1_uc001wyf.4_Missense_Mutation_p.A61T|ATL1_uc001wye.4_Missense_Mutation_p.A61T|ATL1_uc021rsx.1_Missense_Mutation_p.A61T	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	61					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCTCTCGGAGGCTGTCAGAGA	0.433													6	278					0	0	1	0	0	A	51054695	G	A	51054695	3	1	61	1	0	0	0	0	1	0	0	0	1106	1203	42	2	187	2	ATL1	14	51054695	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		51054695	56294845	14	1138											
SYNE2	23224	broad.mit.edu	37	chr14	64678781	64678781	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaacgtggagcacttctcaGagagtgacgccgatgacaag	12	11	1	3			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:64678781G>C	uc001xgl.3	+	103	19056	c.18826G>C	c.(18826-18828)Gag>Cag	p.E6276Q	SYNE2_uc001xgm.3_Missense_Mutation_p.E6276Q|SYNE2_uc010apy.3_Missense_Mutation_p.E2661Q|SYNE2_uc001xgn.3_Missense_Mutation_p.E1238Q|SYNE2_uc021rui.1_Missense_Mutation_p.E1280Q|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.E246Q|SYNE2_uc001xgq.3_Missense_Mutation_p.E641Q|SYNE2_uc001xgr.3_Missense_Mutation_p.E59Q|SYNE2_uc010tsi.2_5'Flank|SYNE2_uc001xgs.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6276					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACTTCTCAGAGAGTGACGC	0.542													4	197					0	0	1	0	0	C	64678781	G	C	64678781	3	2	61	1	0	0	0	0	1	0	0	0	15443	943	33	4	19236	4	SYNE2	14	64678781	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	13624086	64678781	42670759	15	1139											
GALNTL1	57452	broad.mit.edu	37	chr14	69795278	69795278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgcccatgctgcagcGggtgaaggaggtgagccact	16	12	0	2			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:69795278G>A	uc001xlb.2	+	5	1007	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	GALNTL1_uc001xla.2_Missense_Mutation_p.R227Q|GALNTL1_uc010aqu.2_Missense_Mutation_p.R227Q	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	227	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ATGCTGCAGCGGGTGAAGGAG	0.622													24	62					0	0	1	0	0	A	69795278	G	A	69795278	3	1	61	1	0	0	0	0	1	0	0	0	6221	1116	39	1	702	1	GALNTL1	14	69795278	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	5116497	69795278	37554262	16	1140											
MYH13	8735	broad.mit.edu	37	chr17	10209906	10209906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctccaggtgggcgctgGtgtcctgttccttctttagc	12	13	1	0			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:10209906G>A	uc002gmk.1	-	36	5426	c.5336C>T	c.(5335-5337)aCc>aTc	p.T1779I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1779					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGGGCGCTGGTGTCCTGTTC	0.592													26	129					0	0	1	0	0	A	10209906	G	A	10209906	3	1	61	1	0	0	0	0	1	0	0	0	10032	1261	44	2	500	2	MYH13	17	10209906	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		10209906	70985304	17	1141											
CD300LF	146722	broad.mit.edu	37	chr17	72692351	72692351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgctctggggacatccCggctgctaaaagacaaacaa	9	12	1	1	rs149416788		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:72692351C>T	uc010wra.2	-	4	713	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.G192R|CD300LF_uc010dfw.3_Intron|CD300LF_uc002jlg.3_Missense_Mutation_p.G189R|CD300LF_uc002jlh.3_Missense_Mutation_p.R204Q|CD300LF_uc002jli.3_Missense_Mutation_p.R154Q|CD300LF_uc002jlj.1_Intron	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	189						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGACATCCCGGCTGCTAAA	0.493													5	211					0	0	1	0	0	T	72692351	C	T	72692351	3	4	61	1	0	0	0	0	1	0	0	0	3001	652	23	1	319	1	CD300LF	17	72692351	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	62482445	72692351	8502859	18	1142											
FADS6	283985	broad.mit.edu	37	chr17	72874555	72874555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgagccaggtatgagtcctCgttgtacggtagctgcttct	13	10	1	1	rs145096183	by1000genomes	TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:72874555C>T	uc002jmd.1	-	5	970	c.958G>A	c.(958-960)Gag>Aag	p.E320K	FADS6_uc010wrn.1_Missense_Mutation_p.E174K	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	326					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TATGAGTCCTCGTTGTACGGT	0.587													20	65					0	0	1	0	0	T	72874555	C	T	72874555	3	4	61	1	0	0	0	0	1	0	0	0	5368	893	31	1	98	1	FADS6	17	72874555	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	182204	72874555	8320655	19	1143											
CEP192	55125	broad.mit.edu	37	chr18	13068880	13068880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagcagaagaattctcgGcaaaagttgatatcgaagtt	9	7	2	3			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr18:13068880G>A	uc010xac.2	+	24	4932	c.4852G>A	c.(4852-4854)Gca>Aca	p.A1618T	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.A1143T|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.A40T	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1213										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAATTCTCGGCAAAAGTTGA	0.438													4	156					0	0	1	0	0	A	13068880	G	A	13068880	3	1	61	1	0	0	0	0	1	0	0	0	3251	1203	42	2	4946	2	CEP192	18	13068880	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		13068880	65008368	20	1144											
ARFGEF2	10564	broad.mit.edu	37	chr20	47611021	47611021	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagccagctggagctcgctCagctgataggaaccggtgtg	14	11	2	1			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr20:47611021C>T	uc002xtx.4	+	21	3159	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*	ARFGEF2_uc010zyf.2_Nonsense_Mutation_p.Q296*	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1003					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	p.Q1003E(2)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGAGCTCGCTCAGCTGATAGG	0.493													20	66					0	0	1	0	0	T	47611021	C	T	47611021	4	4	61	1	0	0	0	0	0	1	0	0	853	827	29	2	3093	2	ARFGEF2	20	47611021	Nonsense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		47611021	15414499	21	1145											
MECP2	4204	broad.mit.edu	37	chrX	153363113	153363113	+	Frame_Shift_Del	DEL	C	C	-													gctcggcgcggcggcggcggCggcggccattttccggacgg							TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chrX:153363113delC	uc004fjw.2	-	0	76	c.10delG	c.(10-12)gccfs	p.A4fs	MECP2_uc004fjv.2_5'UTR	NM_001110792	NP_001104262	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 2, mRNA.	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gcggcggcggcggcggcCATT	0.776													2	4	---	---	---	---						-	153363113	C	-	153363113	7	5	61	1	0	1	0	1	0	0	0	0	9423	768	27	0	1528	0	MECP2	23	153363113	Frame_Shift_Del	DEL	C	TCGA-DJ-A13R-01A-11D-A10S-08		153363113	1907447	22	1146											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			124	186					0	0	1	0	0	C	115256529	T	C	115256529	3	2	62	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A13S-01A-11D-A10S-08		115256529	133994092	1	1147											
CEP350	9857	broad.mit.edu	37	chr1	180010893	180010893	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatagcagctcagcagtcaGaaactgctcgcctcaccaca	7	14	3	1			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr1:180010893G>T	uc001gnt.3	+	18	4701	c.4318G>T	c.(4318-4320)Gaa>Taa	p.E1440*	CEP350_uc009wxl.2_Nonsense_Mutation_p.E1439*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1440						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGCAGTCAGAAACTGCTCG	0.458													3	31					0	0	1	0	0	T	180010893	G	T	180010893	4	4	62	1	0	0	0	0	0	1	0	0	3254	943	33	4	4388	4	CEP350	1	180010893	Nonsense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08	64754364	180010893	69239728	2	1148											
SH2D6	284948	broad.mit.edu	37	chr2	85663607	85663607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcttctcctccgtggcgGccatggtccagcacttcatg	10	15	3	0			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr2:85663607G>A	uc002spq.3	+	3	591	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN	Homo sapiens SH2 domain containing 6 (SH2D6), mRNA.	144	SH2.									central_nervous_system(1)|lung(2)	3						CTCCGTGGCGGCCATGGTCCA	0.632													4	70					0	0	1	0	0	A	85663607	G	A	85663607	3	1	62	1	0	0	0	0	1	0	0	0	14238	1203	42	2	444	2	SH2D6	2	85663607	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		85663607	157535766	3	1149											
XIRP2	129446	broad.mit.edu	37	chr2	168105213	168105213	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcatataaaagataataaGaacgatttttcccccaaagt	5	7	0	2			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr2:168105213G>A	uc002udx.3	+	8	7400	c.7311G>A	c.(7309-7311)aaG>aaA	p.K2437K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K2262K|XIRP2_uc010fpq.3_Silent_p.K2215K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2262					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGATAATAAGAACGATTTTT	0.403													47	94					0	0	1	0	0	A	168105213	G	A	168105213	2	1	62	1	0	0	0	0	0	0	0	1	17427	933	33	2		2	XIRP2	2	168105213	Silent	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08	82441606	168105213	75094160	4	1150											
BOC	91653	broad.mit.edu	37	chr3	112993298	112993298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctccaaactcggcaaCcctgagcagatgctgagggg	11	14	1	3			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr3:112993298C>A	uc003dzz.3	+	8	1650	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	BOC_uc003dzx.3_Missense_Mutation_p.N437K|BOC_uc003dzy.3_Missense_Mutation_p.N437K|BOC_uc003eab.3_Missense_Mutation_p.N138K	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	437					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACTCGGCAACCCTGAGCAGA	0.632													14	135					0	0	1	0	0	A	112993298	C	A	112993298	3	1	62	1	0	0	0	0	1	0	0	0	1481	506	18	4	1337	4	BOC	3	112993298	Missense_Mutation	SNP	C	TCGA-DJ-A13S-01A-11D-A10S-08		112993298	85029132	5	1151											
PTPN13	5783	broad.mit.edu	37	chr4	87662917	87662917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagttcacaatggagtgcGcacattggtccttcgctttc	10	10	1	1			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr4:87662917G>A	uc003hpy.3	+	15	2915	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	PTPN13_uc003hpz.3_Missense_Mutation_p.R812H|PTPN13_uc003hqa.3_Missense_Mutation_p.R812H|PTPN13_uc003hqb.3_Missense_Mutation_p.R812H	NM_080685	NP_542416	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 4, mRNA.	812	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGGAGTGCGCACATTGGTC	0.388													3	36					0	0	1	0	0	A	87662917	G	A	87662917	3	1	62	1	0	0	0	0	1	0	0	0	12782	1087	38	1	2493	1	PTPN13	4	87662917	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		87662917	103491359	6	1152											
RAB3C	115827	broad.mit.edu	37	chr5	58120914	58120914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaatgcccaagttattctgGttgggaacaagtgtgacatg	11	7	1	1			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr5:58120914G>T	uc003jrp.3	+	3	518	c.421G>T	c.(421-423)Gtt>Ttt	p.V141F		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	141					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AGTTATTCTGGTTGGGAACAA	0.398													37	65					0	0	1	0	0	T	58120914	G	T	58120914	3	4	62	1	0	0	0	0	1	0	0	0	12933	1261	44	4	435	4	RAB3C	5	58120914	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		58120914	122794346	7	1153											
MATR3	9782	broad.mit.edu	37	chr5	138643173	138643173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcgtgacctgtctgcGgcaggaataggccttcttgc	14	11	2	1			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr5:138643173G>A	uc003ldw.3	+	2	472	c.69G>A	c.(67-69)gcG>gcA	p.A23A	MATR3_uc003lds.3_Silent_p.A23A|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.A23A|MATR3_uc010jfb.3_Silent_p.A23A|MATR3_uc003ldx.3_Silent_p.A23A|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.A23A|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	23						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCTGTCTGCGGCAGGAATAG	0.478													64	151					0	0	1	0	0	A	138643173	G	A	138643173	2	1	62	1	0	0	0	0	0	0	0	1	9337	1103	39	1		1	MATR3	5	138643173	Silent	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08	80522259	138643173	42272087	8	1154											
NAV3	89795	broad.mit.edu	37	chr12	78401006	78401006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaaggggagcccttcccAgtccttatctaagcctataa	7	13	1	0			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr12:78401006A>C	uc001syp.3	+	7	1861	c.1688A>C	c.(1687-1689)cAg>cCg	p.Q563P	NAV3_uc001syo.3_Missense_Mutation_p.Q563P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	563						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCCTTCCCAGTCCTTATCT	0.498										HNSCC(70;0.22)			53	88					0	0	1	0	0	C	78401006	A	C	78401006	3	2	62	1	0	0	0	0	1	0	0	0	10185	188	7	5	1718	5	NAV3	12	78401006	Missense_Mutation	SNP	A	TCGA-DJ-A13S-01A-11D-A10S-08		78401006	55450889	9	1155											
KLHDC2	23588	broad.mit.edu	37	chr14	50241313	50241313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtgatgttcctcctTctatgtcaggaagctgtgct	11	9	2	2			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr14:50241313T>C	uc001wwx.3	+	2	668	c.268T>C	c.(268-270)Tct>Cct	p.S90P	NEMF_uc010anj.1_Intron	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	Homo sapiens kelch domain containing 2 (KLHDC2), mRNA.	90						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGTTCCTCCTTCTATGTCAGG	0.383													20	283					0	0	1	0	0	C	50241313	T	C	50241313	3	2	62	1	0	0	0	0	1	0	0	0	8356	1783	62	3	278	3	KLHDC2	14	50241313	Missense_Mutation	SNP	T	TCGA-DJ-A13S-01A-11D-A10S-08		50241313	57108227	10	1156											
MUC16	94025	broad.mit.edu	37	chr19	9069489	9069489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcacctgagaagctacttGcacttggtaaggagctggtc	11	10	1	1			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr19:9069489G>T	uc002mkp.3	-	2	18161	c.17957C>A	c.(17956-17958)gCa>gAa	p.A5986E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5988	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A5986E(3)|p.S5985I(2)|p.A1619E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGCTACTTGCACTTGGTAA	0.483													100	175					0	0	1	0	0	T	9069489	G	T	9069489	3	4	62	1	0	0	0	0	1	0	0	0	9973	1319	46	4	25894	4	MUC16	19	9069489	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		9069489	50059494	11	1157											
EPB41L1	2036	broad.mit.edu	37	chr20	34809819	34809819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttttctgagacaaggatcGagaagcgaatcatcattact	10	7	3	2			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr20:34809819G>A	uc010gfq.3	+	9	3130	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	EPB41L1_uc002xeu.3_Missense_Mutation_p.E723K|EPB41L1_uc002xev.3_Missense_Mutation_p.E824K|EPB41L1_uc002xew.3_Missense_Mutation_p.E716K|EPB41L1_uc002xex.3_Missense_Mutation_p.E645K|EPB41L1_uc002xey.3_Missense_Mutation_p.E575K|EPB41L1_uc002xez.3_Missense_Mutation_p.E723K|EPB41L1_uc002xfb.3_Missense_Mutation_p.E825K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	825					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACAAGGATCGAGAAGCGAAT	0.552													27	51					0	0	1	0	0	A	34809819	G	A	34809819	3	1	62	1	0	0	0	0	1	0	0	0	5152	1059	37	1	2547	1	EPB41L1	20	34809819	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		34809819	28215701	12	1158											
CDKL5	6792	broad.mit.edu	37	chrX	18664181	18664181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggaccccaagatagacGcttcatgttaaggacgacag	10	10	2	2			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chrX:18664181G>A	uc004cym.3	+	18	3021	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H	CDKL5_uc004cyn.3_Missense_Mutation_p.R923H|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	923			R -> C.		neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity	p.R922K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					caagatagacgcttcatgtta	0.478													20	77					0	0	1	0	0	A	18664181	G	A	18664181	3	1	62	1	0	0	0	0	1	0	0	0	3157	1087	38	1	2838	1	CDKL5	23	18664181	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		18664181	136606379	13	1159											
BCL9	607	broad.mit.edu	37	chr1	147091712	147091712	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtccccaaccctgcatctaGaccaggtctttctggagtca	8	14	4	1			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr1:147091712G>T	uc001epq.3	+	7	2491	c.1751G>T	c.(1750-1752)aGa>aTa	p.R584I	BCL9_uc010ozr.1_Missense_Mutation_p.R510I	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	584	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCTGCATCTAGACCAGGTCTT	0.552			T	"IGH@, IGL@"	B-ALL								6	213					0	0	1	0	0	T	147091712	G	T	147091712	3	4	63	1	0	0	0	0	1	0	0	0	1381	942	33	4	1769	4	BCL9	1	147091712	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		147091712	102158909	1	1160											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				42	79					0	0	1	0	0	T	140453136	A	T	140453136	3	4	63	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13T-01A-11D-A10S-08		140453136	18685527	2	1161											
NUMA1	4926	broad.mit.edu	37	chr11	71734181	71734181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattctggggaagagggaTgttttcgattttctgcaatg	14	5	2	1	rs140051813	byFrequency	TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr11:71734181T>C	uc001orl.1	-	5	393	c.221A>G	c.(220-222)cAt>cGt	p.H74R	NUMA1_uc001ork.1_Missense_Mutation_p.H74R|NUMA1_uc001orm.1_Missense_Mutation_p.H74R|NUMA1_uc009ysx.1_Missense_Mutation_p.H74R|NUMA1_uc001oro.1_Missense_Mutation_p.H74R|NUMA1_uc009ysy.2_Missense_Mutation_p.H74R|NUMA1_uc001orp.3_Missense_Mutation_p.H74R|NUMA1_uc001orq.3_Missense_Mutation_p.H74R|NUMA1_uc021qmw.1_Missense_Mutation_p.H74R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	74					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAAGAGGGATGTTTTCGATT	0.493			T	RARA	APL								63	97					0	0	1	0	0	C	71734181	T	C	71734181	3	2	63	1	0	0	0	0	1	0	0	0	10750	1464	51	3	6214	3	NUMA1	11	71734181	Missense_Mutation	SNP	T	TCGA-DJ-A13T-01A-11D-A10S-08		71734181	63272335	3	1162											
C11orf63	79864	broad.mit.edu	37	chr11	122774973	122774973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagcagcctttctccgtacGtgaagagctcaagttcacat	9	12	3	2			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr11:122774973G>T	uc001pym.3	+	2	982	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	C11orf63_uc001pyl.1_Missense_Mutation_p.V229L	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	229										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TTCTCCGTACGTGAAGAGCTC	0.512													5	181					0	0	1	0	0	T	122774973	G	T	122774973	3	4	63	1	0	0	0	0	1	0	0	0	1654	1145	40	4	691	4	C11orf63	11	122774973	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08	51040792	122774973	12231543	4	1163											
SLC38A4	55089	broad.mit.edu	37	chr12	47168909	47168909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgagaagggggatgtctaAtgtatacactttgctgtagg	13	5	1	1			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr12:47168909A>T	uc001rpi.2	-	13	1621	c.1222T>A	c.(1222-1224)Tta>Ata	p.L408I	SLC38A4_uc001rpj.2_Missense_Mutation_p.L408I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	408					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GGGATGTCTAATGTATACACT	0.438													60	95					0	0	1	0	0	T	47168909	A	T	47168909	3	4	63	1	0	0	0	0	1	0	0	0	14606	98	4	5	437	5	SLC38A4	12	47168909	Missense_Mutation	SNP	A	TCGA-DJ-A13T-01A-11D-A10S-08		47168909	86682986	5	1164											
HPD	3242	broad.mit.edu	37	chr12	122292689	122292689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgattttggcgccccgttCccgtgctttctgcagagaag	11	12	1	2			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr12:122292689C>T	uc001ubj.3	-	6	374	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	HPD_uc001ubk.3_Missense_Mutation_p.E73K	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	112					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCGCCCCGTTCCCGTGCTTTC	0.597													55	65					0	0	1	0	0	T	122292689	C	T	122292689	3	4	63	1	0	0	0	0	1	0	0	0	7332	864	30	2	879	2	HPD	12	122292689	Missense_Mutation	SNP	C	TCGA-DJ-A13T-01A-11D-A10S-08	75123780	122292689	11559206	6	1165											
SLITRK1	114798	broad.mit.edu	37	chr13	84453858	84453858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctccgccaacccagtgctGtttttactgtgcgaagttaa	9	11	1	0			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr13:84453858G>A	uc001vlk.3	-	0	2671	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	595						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACCCAGTGCTGTTTTTACTGT	0.542													4	62					0	0	1	0	0	A	84453858	G	A	84453858	2	1	63	1	0	0	0	0	0	0	0	1	14742	1368	48	2		2	SLITRK1	13	84453858	Silent	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		84453858	30716020	7	1166											
NLRP1	22861	broad.mit.edu	37	chr17	5487102	5487102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctgctccccatactgaGccaccaggtacgaggccacc	9	19	0	1			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr17:5487102G>A	uc002gci.3	-	0	731	c.176C>T	c.(175-177)gCt>gTt	p.A59V	NLRP1_uc002gcg.1_Missense_Mutation_p.A59V|NLRP1_uc002gch.4_Missense_Mutation_p.A59V|NLRP1_uc002gck.3_Missense_Mutation_p.A59V|NLRP1_uc002gcj.3_Missense_Mutation_p.A59V|NLRP1_uc002gcl.3_Missense_Mutation_p.A59V|NLRP1_uc010clh.3_Missense_Mutation_p.A59V	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	59	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCATACTGAGCCACCAGGTA	0.637													2	6					0	0	1	0	0	A	5487102	G	A	5487102	3	1	63	1	0	0	0	0	1	0	0	0	10471	971	34	2	4388	2	NLRP1	17	5487102	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		5487102	75708108	8	1167											
MYO15A	51168	broad.mit.edu	37	chr17	18057452	18057452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccctgcaggtgttttAccccaaggacagctacagcc	9	17	0	0			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr17:18057452A>G	uc021trm.1	+	42	8315	c.8096A>G	c.(8095-8097)tAc>tGc	p.Y2699C	MYO15A_uc021trl.1_Missense_Mutation_p.Y2697C|MYO15A_uc010vxi.2_5'UTR|MYO15A_uc010vxj.1_5'UTR|MYO15A_uc010vxk.1_5'UTR	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2699	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGGTGTTTTACCCCAAGGAC	0.637													4	108					0	0	1	0	0	G	18057452	A	G	18057452	3	3	63	1	0	0	0	0	1	0	0	0	10063	391	14	3	8262	3	MYO15A	17	18057452	Missense_Mutation	SNP	A	TCGA-DJ-A13T-01A-11D-A10S-08	12570350	18057452	63137758	9	1168											
FCER2	2208	broad.mit.edu	37	chr19	7754305	7754305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggctggtgggctcccctGgagcccagttgctggagcaa	15	13	0	0			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr19:7754305G>A	uc002mhn.3	-	10	957	c.740C>T	c.(739-741)cCa>cTa	p.P247L	FCER2_uc021unx.1_Missense_Mutation_p.P246L|FCER2_uc002mhm.2_Missense_Mutation_p.P247L|FCER2_uc010xjt.2_Missense_Mutation_p.P169L	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	247	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GGGCTCCCCTGGAGCCCAGTT	0.677													10	7					0	0	1	0	0	A	7754305	G	A	7754305	3	1	63	1	0	0	0	0	1	0	0	0	5776	1348	47	2	229	2	FCER2	19	7754305	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		7754305	51374678	10	1169											
ZNF607	84775	broad.mit.edu	37	chr19	38190685	38190685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacttctgacattgcttaCactcatatggtttctgtcca	7	10	3	1			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr19:38190685C>A	uc002ohc.2	-	4	943	c.347G>T	c.(346-348)tGt>tTt	p.C116F	ZNF607_uc002ohb.2_Missense_Mutation_p.C115F	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACATTGCTTACACTCATATGG	0.368													88	132					0	0	1	0	0	A	38190685	C	A	38190685	3	1	63	1	0	0	0	0	1	0	0	0	18030	478	17	4	1747	4	ZNF607	19	38190685	Missense_Mutation	SNP	C	TCGA-DJ-A13T-01A-11D-A10S-08	30436380	38190685	20938298	11	1170											
MAGEB6	158809	broad.mit.edu	37	chrX	26212809	26212809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtggtgataatgcgctGccgaagtcgggtctcctgat	14	9	1	3			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chrX:26212809G>A	uc004dbr.3	+	1	995	c.846G>A	c.(844-846)ctG>ctA	p.L282L	MAGEB6_uc022buc.1_Silent_p.L282L	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	282	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATAATGCGCTGCCGAAGTCGG	0.542													8	250					0	0	1	0	0	A	26212809	G	A	26212809	2	1	63	1	0	0	0	0	0	0	0	1	9179	1306	46	2		2	MAGEB6	23	26212809	Silent	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		26212809	129057751	12	1171											
FGR	2268	broad.mit.edu	37	chr1	27949582	27949582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtggaacttctcgccCttggtgaaggtgaggtcatc	14	8	2	2			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:27949582C>T	uc001boj.3	-	1	446	c.300G>A	c.(298-300)aaG>aaA	p.K100K	FGR_uc001bok.3_Silent_p.K100K|FGR_uc001bol.3_Silent_p.K100K|FGR_uc001bom.3_Silent_p.K100K	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	100	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTCTCGCCCTTGGTGAAGG	0.552													9	48					0	0	1	0	0	T	27949582	C	T	27949582	2	4	64	1	0	0	0	0	0	0	0	1	5874	680	24	2		2	FGR	1	27949582	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		27949582	221301039	1	1172											
HCRTR1	3061	broad.mit.edu	37	chr1	32092570	32092570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaccagcgtcaccacaGtgctgccctgagcgagggct	12	15	2	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:32092570G>T	uc009vtx.2	+	8	1652	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	HCRTR1_uc001btc.4_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.V423L|HCRTR1_uc010ogl.2_Intron	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	423					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CGTCACCACAGTGCTGCCCTG	0.612													4	147					0	0	1	0	0	T	32092570	G	T	32092570	3	4	64	1	0	0	0	0	1	0	0	0	7001	1029	36	4	1293	4	HCRTR1	1	32092570	Missense_Mutation	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	4142988	32092570	217158051	2	1173											
ZNF197	10168	broad.mit.edu	37	chr3	44670566	44670566	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttcttgaggtcttgtagAtgatactctccaagctgtaa	9	7	3	3			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr3:44670566A>G	uc003cnm.3	+	2	126	c.-80_splice	c.e2-1		ZNF197_uc003cnn.3_5'UTR|ZNF197_uc003cno.3_Splice_Site|ZNF197_uc003cnp.3_Splice_Site	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGTCTTGTAGATGATACTCTC	0.433													4	93					0	0	1	0	0	G	44670566	A	G	44670566	5	3	64	1	0	0	0	0	0	0	1	0	17756	347	12	3		3	ZNF197	3	44670566	Splice_Site	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		44670566	153351864	3	1174											
SDAD1	55153	broad.mit.edu	37	chr4	76881302	76881302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagcatctaattctccaTattcttgtactcttgcttct	3	11	5	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:76881302T>C	uc003hje.4	-	16	1519	c.1400A>G	c.(1399-1401)tAt>tGt	p.Y467C	SDAD1_uc003hjf.4_Missense_Mutation_p.Y370C|SDAD1_uc011cbr.2_Missense_Mutation_p.Y430C	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	467					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAATTCTCCATATTCTTGTAC	0.348													6	67					0	0	1	0	0	C	76881302	T	C	76881302	3	2	64	1	0	0	0	0	1	0	0	0	13950	1406	49	3	687	3	SDAD1	4	76881302	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08		76881302	114272974	4	1175											
TIGD4	201798	broad.mit.edu	37	chr4	153691793	153691793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttaaaatcattatggcCcagtttctgggcaaaatcat	7	9	3	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:153691793C>T	uc003imy.3	-	1	1185	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	TIGD4_uc021xtf.1_Missense_Mutation_p.G122S	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	122	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TCATTATGGCCCAGTTTCTGG	0.403													4	150					0	0	1	0	0	T	153691793	C	T	153691793	3	4	64	1	0	0	0	0	1	0	0	0	15895	623	22	2	1178	2	TIGD4	4	153691793	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08	76810491	153691793	37462483	5	1176											
AGA	175	broad.mit.edu	37	chr4	178359917	178359917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctccaataatttggctgGcaattccgagcaagccaatc	7	13	0	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:178359917G>A	uc003iuu.2	-	3	617	c.489C>T	c.(487-489)tgC>tgT	p.C163C	AGA_uc003iuw.3_Silent_p.C163C|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	163			C -> S (in AGU; Finnish. Most frequent mutation; >98% of Finnish AGU alleles).		asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AATTTGGCTGGCAATTCCGAG	0.393													3	31					0	0	1	0	0	A	178359917	G	A	178359917	2	1	64	1	0	0	0	0	0	0	0	1	365	1195	42	2		2	AGA	4	178359917	Silent	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	24668124	178359917	12794359	6	1177											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	53					0	0	1	0	0	T	140453136	A	T	140453136	3	4	64	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		140453136	18685527	7	1178											
EPHB6	2051	broad.mit.edu	37	chr7	142563827	142563827	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggacctgctcttcaatgtCgtgtgcaaggagtgtgaagg	16	7	2	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr7:142563827C>T	uc011kst.2	+	8	2002	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	EPHB6_uc011ksu.2_Silent_p.V405V|EPHB6_uc003wbs.3_Silent_p.V113V|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Silent_p.V113V|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	405	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.G404S(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCTTCAATGTCGTGTGCAAGG	0.637													13	15					0	0	1	0	0	T	142563827	C	T	142563827	2	4	64	1	0	0	0	0	0	0	0	1	5178	871	31	1		1	EPHB6	7	142563827	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08	2110691	142563827	16574836	8	1179											
RNF139	11236	broad.mit.edu	37	chr8	125499517	125499517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggagccgcttacaagaaAtaaatgatgtatgtgcaatc	10	6	0	2			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr8:125499517A>G	uc003yrc.3	+	1	1970	c.1627A>G	c.(1627-1629)Ata>Gta	p.I543V		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	Homo sapiens ring finger protein 139 (RNF139), mRNA.	543					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTACAAGAAATAAATGATGT	0.378													31	56					0	0	1	0	0	G	125499517	A	G	125499517	3	3	64	1	0	0	0	0	1	0	0	0	13442	101	4	3	1633	3	RNF139	8	125499517	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		125499517	20864505	9	1180											
CNTNAP3	79937	broad.mit.edu	37	chr9	39171422	39171422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagactcagtttgagcttgCcatccttaagaaagaggacg	11	8	1	4			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:39171422C>T	uc004abi.3	-	7	1516	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	CNTNAP3_uc004abj.3_Missense_Mutation_p.G426D|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.G426D|CNTNAP3_uc011lqs.1_Missense_Mutation_p.G426D	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	426	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGAGCTTGCCATCCTTAAG	0.468													4	145					0	0	1	0	0	T	39171422	C	T	39171422	3	4	64	1	0	0	0	0	1	0	0	0	3648	739	26	2	2657	2	CNTNAP3	9	39171422	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		39171422	102042009	10	1181											
PPP3R2	5535	broad.mit.edu	37	chr9	104357184	104357184	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggagcacatctccgccgggTaactggcctcgtttcccatt	11	14	1	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:104357184T>A	uc004bbr.3	-	0	100	c.29A>T	c.(28-30)tAc>tTc	p.Y10F	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	7							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CTCCGCCGGGTAACTGGCCTC	0.587													42	68					0	0	1	0	0	A	104357184	T	A	104357184	3	1	64	1	0	0	0	0	1	0	0	0	12401	1638	57	5	496	5	PPP3R2	9	104357184	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08	65185762	104357184	36856247	11	1182											
COL27A1	85301	broad.mit.edu	37	chr9	117071596	117071596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacctgctaagctccgaGgtgacccagcacatcaccat	8	16	1	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:117071596G>A	uc011lxl.2	+	59	5274	c.5274G>A	c.(5272-5274)gaG>gaA	p.E1758E	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Silent_p.E73E	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1758	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent	p.S1757S(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TAAGCTCCGAGGTGACCCAGC	0.617													109	166					0	0	1	0	0	A	117071596	G	A	117071596	2	1	64	1	0	0	0	0	0	0	0	1	3685	991	35	2		2	COL27A1	9	117071596	Silent	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	12714412	117071596	24141835	12	1183											
GTPBP4	23560	broad.mit.edu	37	chr10	1042091	1042091	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaagtatggcgactctctCtaccgctgcaaacagctgaa	9	11	2	2			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:1042091C>A	uc001ift.3	+	3	440	c.369C>A	c.(367-369)ctC>ctA	p.L123L	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_Silent_p.L7L|GTPBP4_uc010qae.2_Silent_p.L76L	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	123					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GCGACTCTCTCTACCGCTGCA	0.428													4	27					0	0	1	0	0	A	1042091	C	A	1042091	2	1	64	1	0	0	0	0	0	0	0	1	6882	900	32	4		4	GTPBP4	10	1042091	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		1042091	134492656	13	1184											
PFKFB3	5209	broad.mit.edu	37	chr10	6268161	6268161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcttgcttaggatgcaAagaagggacctaacccgctc	10	10	1	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:6268161A>G	uc010qaw.2	+	13	1453	c.1390A>G	c.(1390-1392)Aag>Gag	p.K464E	PFKFB3_uc001ijd.3_Missense_Mutation_p.K430E|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc001ije.3_Missense_Mutation_p.K450E|PFKFB3_uc001ijf.3_Missense_Mutation_p.K450E|PFKFB3_uc001ijg.3_Non-coding_Transcript|PFKFB3_uc009xij.3_Non-coding_Transcript|PFKFB3_uc009xik.3_Non-coding_Transcript|PFKFB3_uc009xil.3_Intron	NM_001145443	NP_001138915	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 2, mRNA.	450	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.P464Q(1)|p.P464L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TTAGGATGCAAAGAAGGGACC	0.483													4	154					0	0	1	0	0	G	6268161	A	G	6268161	3	3	64	1	0	0	0	0	1	0	0	0	11762	15	1	3	1422	3	PFKFB3	10	6268161	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08	5226070	6268161	129266586	14	1185											
OGDHL	55753	broad.mit.edu	37	chr10	50952733	50952733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtgctttatatgcagAatctttttatccttggacct	6	9	1	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:50952733A>C	uc009xog.3	-	11	1810	c.1776T>G	c.(1774-1776)atT>atG	p.I592M	OGDHL_uc001jie.3_Missense_Mutation_p.I565M|OGDHL_uc010qgt.2_Missense_Mutation_p.I508M|OGDHL_uc010qgu.2_Missense_Mutation_p.I356M|OGDHL_uc009xoh.2_Missense_Mutation_p.I356M	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	565					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTATATGCAGAATCTTTTTAT	0.527													5	109					0	0	1	0	0	C	50952733	A	C	50952733	3	2	64	1	0	0	0	0	1	0	0	0	10840	242	9	5	1381	5	OGDHL	10	50952733	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08	44684572	50952733	84582014	15	1186											
TSPAN15	23555	broad.mit.edu	37	chr10	71243586	71243586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgttcatggtctccttcaTtggtgtgctggcgtccctcc	10	13	3	0	rs140708891	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:71243586T>C	uc001jpo.1	+	1	361	c.236T>C	c.(235-237)aTt>aCt	p.I79T		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	79						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GTCTCCTTCATTGGTGTGCTG	0.587													4	96					0	0	1	0	0	C	71243586	T	C	71243586	3	2	64	1	0	0	0	0	1	0	0	0	16636	1493	52	3	242	3	TSPAN15	10	71243586	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08	20290853	71243586	64291161	16	1187											
TMED8	283578	broad.mit.edu	37	chr14	77812725	77812725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctggtctgcaggcagCaaatcctgtttcaccaaggc	12	12	2	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr14:77812725C>A	uc001xto.1	-	2	294	c.294G>T	c.(292-294)ttG>ttT	p.L98F	TMED8_uc001xtn.1_5'Flank	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	98					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTGCAGGCAGCAAATCCTGTT	0.537													3	65					0	0	1	0	0	A	77812725	C	A	77812725	3	1	64	1	0	0	0	0	1	0	0	0	16008	709	25	4	698	4	TMED8	14	77812725	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		77812725	29536815	17	1188											
C16orf72	29035	broad.mit.edu	37	chr16	9197107	9197107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccttccgggaagccataGctctgcatggtaaagccgtt	10	12	1	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr16:9197107G>A	uc002czm.3	+	2	939	c.574G>A	c.(574-576)Gct>Act	p.A192T		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	Homo sapiens chromosome 16 open reading frame 72 (C16orf72), mRNA.	192										endometrium(4)|large_intestine(2)|lung(2)	8						GGAAGCCATAGCTCTGCATGG	0.463													5	53					0	0	1	0	0	A	9197107	G	A	9197107	3	1	64	1	0	0	0	0	1	0	0	0	1831	971	34	2	584	2	C16orf72	16	9197107	Missense_Mutation	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08		9197107	81157646	18	1189											
TRAF4	9618	broad.mit.edu	37	chr17	27074944	27074944	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggctgccgctggagTgggccactacgtcatctaca	15	11	2	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr17:27074944T>A	uc002hcs.3	+	2	387	c.279T>A	c.(277-279)agT>agA	p.S93R	TRAF4_uc002hcq.1_Missense_Mutation_p.S93R	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	93					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCGCTGGAGTGGGCCACTAC	0.612													25	28					0	0	1	0	0	A	27074944	T	A	27074944	3	1	64	1	0	0	0	0	1	0	0	0	16440	1693	59	5	289	5	TRAF4	17	27074944	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08		27074944	54120266	19	1190											
LILRB3	11025	broad.mit.edu	37	chr19	54722660	54722660	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggcccctgtccttgggctCtgtctccgcagcccctgcag	11	18	2	0			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr19:54722660C>T	uc010erh.1	-	9	1649	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	LILRB3_uc002qee.1_Missense_Mutation_p.E492K|LILRB3_uc002qef.1_Missense_Mutation_p.E492K|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.E492K|LILRB3_uc002qeh.1_Missense_Mutation_p.E492K|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.E492K|LILRB3_uc002qek.1_Missense_Mutation_p.E492K|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.E492K|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.E492K|LILRB3_uc002qep.1_Missense_Mutation_p.E492K|LILRB3_uc002qeq.1_Missense_Mutation_p.E492K	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	492					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTTGGGCTCTGTCTCCGCA	0.577													4	113					0	0	1	0	0	T	54722660	C	T	54722660	3	4	64	1	0	0	0	0	1	0	0	0	8792	922	32	2	444	2	LILRB3	19	54722660	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		54722660	4406323	20	1191											
NCAM2	4685	broad.mit.edu	37	chr21	22804492	22804492	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaccacggccaaggtttcCttcaacaaaccggactccca	7	16	1	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr21:22804492C>A	uc002yld.2	+	11	1794	c.1545C>A	c.(1543-1545)tcC>tcA	p.S515S	NCAM2_uc011acb.2_Silent_p.S373S	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	515	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAAGGTTTCCTTCAACAAAC	0.453													7	79					0	0	1	0	0	A	22804492	C	A	22804492	2	1	64	1	0	0	0	0	0	0	0	1	10203	668	24	4		4	NCAM2	21	22804492	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		22804492	25325403	21	1192											
TCN2	6948	broad.mit.edu	37	chr22	31008997	31008997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctggtctcacagctcaAatggttcctggaggatgaga	13	9	2	1			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr22:31008997A>G	uc003aip.2	+	2	644	c.395A>G	c.(394-396)aAa>aGa	p.K132R	TCN2_uc003air.2_Intron	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	132					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACAGCTCAAATGGTTCCTG	0.582													35	31					0	0	1	0	0	G	31008997	A	G	31008997	3	3	64	1	0	0	0	0	1	0	0	0	15704	14	1	3	405	3	TCN2	22	31008997	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		31008997	20295569	22	1193											
DNAJC13	23317	broad.mit.edu	37	chr3	132196865	132196865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatcatcgcttcttgctcAccccaaaagtaaacatgaag	5	11	3	1			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:132196865A>C	uc003eor.3	+	23	2655	c.2590A>C	c.(2590-2592)Acc>Ccc	p.T864P		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	864							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTTCTTGCTCACCCCAAAAGT	0.328													67	69					0	0	1	0	0	C	132196865	A	C	132196865	3	2	65	1	0	0	0	0	1	0	0	0	4632	159	6	5	2680	5	DNAJC13	3	132196865	Missense_Mutation	SNP	A	TCGA-DJ-A13V-01A-11D-A10S-08		132196865	65825565	1	1194											
MCF2L2	23101	broad.mit.edu	37	chr3	182937644	182937644	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatatttaatattgagtacCttagccgagcctcctagttc	6	9	0	1			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:182937644C>T	uc003fli.1	-	21	2460	c.2370_splice	c.e21+1	p.K790_splice		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	790	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TATTGAGTACCTTAGCCGAGC	0.363													36	74					0	0	1	0	0	T	182937644	C	T	182937644	5	4	65	1	0	0	0	0	0	0	1	0	9380	695	24	2	1014	2	MCF2L2	3	182937644	Splice_Site	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08	50740779	182937644	15084786	2	1195											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	76					0	0	1	0	0	T	140453136	A	T	140453136	3	4	65	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13V-01A-11D-A10S-08		140453136	18685527	3	1196											
NUP214	8021	broad.mit.edu	37	chr9	134019854	134019854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgaagtcatctgctacGgtcactggggagcccccttc	10	13	4	1	rs147598578	byFrequency	TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr9:134019854G>A	uc004cag.3	+	11	1593	c.1482G>A	c.(1480-1482)acG>acA	p.T494T	NUP214_uc004cah.3_Silent_p.T494T|NUP214_uc004cai.3_5'UTR|NUP214_uc004caf.1_Silent_p.T494T|NUP214_uc010mzf.3_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	494	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CATCTGCTACGGTCACTGGGG	0.542			T	"DEK, SET, ABL1"	"AML, T-ALL"								7	332					0	0	1	0	0	A	134019854	G	A	134019854	2	1	65	1	0	0	0	0	0	0	0	1	10762	1103	39	1		1	NUP214	9	134019854	Silent	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		134019854	7193577	4	1197											
TECTA	7007	broad.mit.edu	37	chr11	120989075	120989075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgcaccgtcaagtgccGctgtctggatttcaacaatg	10	11	3	0			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr11:120989075G>A	uc010rzo.2	+	5	851	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	284	VWFC.		R -> H (in a breast cancer sample; somatic mutation).		cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.R284H(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCAAGTGCCGCTGTCTGGAT	0.507													8	77					0	0	1	0	0	A	120989075	G	A	120989075	3	1	65	1	0	0	0	0	1	0	0	0	15744	1087	38	1	873	1	TECTA	11	120989075	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		120989075	14017441	5	1198											
CDH8	1006	broad.mit.edu	37	chr16	62055204	62055204	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atccactcattaaaacttgaGactgattcatcggagccatg	7	10	2	2			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr16:62055204G>C	uc002eog.2	-	1	1059	c.104C>G	c.(103-105)tCt>tGt	p.S35C		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	35					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAAACTTGAGACTGATTCAT	0.438													4	85					0	0	1	0	0	C	62055204	G	C	62055204	3	2	65	1	0	0	0	0	1	0	0	0	3116	942	33	4	2339	4	CDH8	16	62055204	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		62055204	28299549	6	1199											
ALOXE3	59344	broad.mit.edu	37	chr17	8012504	8012504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcacctctcaatggccGcccagatcttcaggccgtcg	9	18	3	1			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr17:8012504G>A	uc002gka.3	-	10	2049	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V	ALOXE3_uc010cnr.3_Missense_Mutation_p.A517V|ALOXE3_uc010vuo.2_Missense_Mutation_p.A649V	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	517	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTCAATGGCCGCCCAGATCTT	0.652													38	38					0	0	1	0	0	A	8012504	G	A	8012504	3	1	65	1	0	0	0	0	1	0	0	0	542	1087	38	1	605	1	ALOXE3	17	8012504	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		8012504	73182706	7	1200											
MUC16	94025	broad.mit.edu	37	chr19	8987282	8987282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgtccgccatgtagcgCaggttgttgatggtgaagtt	13	9	0	2	rs150582315	by1000genomes	TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr19:8987282C>T	uc002mkp.3	-	67	42009	c.41805G>A	c.(41803-41805)ctG>ctA	p.L13935L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L752L|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13960				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATGTAGCGCAGGTTGTTGA	0.597													13	47					0	0	1	0	0	T	8987282	C	T	8987282	2	4	65	1	0	0	0	0	0	0	0	1	9973	697	25	2		2	MUC16	19	8987282	Silent	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08		8987282	50141701	8	1201											
NRIP1	8204	broad.mit.edu	37	chr21	16338129	16338129	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtcttcggacactggTaaggcaggtgcgcttctctg	12	9	2	0			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr21:16338129T>C	uc002yjx.2	-	3	2983	c.2385A>G	c.(2383-2385)ttA>ttG	p.L795L	NRIP1_uc021whl.1_Silent_p.L795L	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	795	Repression domain 3.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CGGACACTGGTAAGGCAGGTG	0.448													5	91					0	0	1	0	0	C	16338129	T	C	16338129	2	2	65	1	0	0	0	0	0	0	0	1	10652	1635	57	3		3	NRIP1	21	16338129	Silent	SNP	T	TCGA-DJ-A13V-01A-11D-A10S-08		16338129	31791766	9	1202											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959307	45959307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacaggcatacagcaggCgggccggcatacagggcggc	18	11	0	1			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr21:45959307C>T	uc002zfh.1	-	0	772	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	243	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						ATACAGCAGGCGGGCCGGCAT	0.706													33	72					0	0	1	0	0	T	45959307	C	T	45959307	3	4	65	1	0	0	0	0	1	0	0	0	8505	768	27	1	125	1	KRTAP10-1	21	45959307	Missense_Mutation	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08	29621178	45959307	2170588	10	1203											
FAM133A	286499	broad.mit.edu	37	chrX	92964801	92964801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggatgaggaaaagaaacaagGaaaaaggagaaagaaaaaga	13	1	0	5			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chrX:92964801G>T	uc022bzw.1	+	2	820	c.383G>T	c.(382-384)gGa>gTa	p.G128V	FAM133A_uc022bzu.1_Missense_Mutation_p.G128V|FAM133A_uc004efr.2_Missense_Mutation_p.G128V|FAM133A_uc022bzv.1_Missense_Mutation_p.G128V|FAM133A_uc022bzx.1_Missense_Mutation_p.G128V	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	128	Lys-rich.|Ser-rich.							p.G128*(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAGAAACAAGGAAAAAGGAGA	0.368													6	19					0	0	1	0	0	T	92964801	G	T	92964801	3	4	65	1	0	0	0	0	1	0	0	0	5443	1174	41	4	385	4	FAM133A	23	92964801	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		92964801	62305759	11	1204											
CLCC1	23155	broad.mit.edu	37	chr1	109492526	109492526	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactgacatccttttccccTgaaataccatattttgccta	5	12	0	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:109492526T>C	uc001dwf.1	-	2	277	c.147A>G	c.(145-147)tcA>tcG	p.S49S	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Silent_p.S49S|CLCC1_uc021ora.1_Silent_p.S49S|CLCC1_uc009wes.1_Silent_p.S49S|CLCC1_uc009wet.1_Silent_p.S49S|CLCC1_uc001dwh.1_Silent_p.S49S	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	49						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCTTTTCCCCTGAAATACCAT	0.294													4	89					0	0	1	0	0	C	109492526	T	C	109492526	2	2	66	1	0	0	0	0	0	0	0	1	3460	1567	55	3		3	CLCC1	1	109492526	Silent	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08		109492526	139758095	1	1205											
RAB25	57111	broad.mit.edu	37	chr1	156038145	156038145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggagcgatggctgaaGgagctctatgaccatgctga	16	7	1	3			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:156038145G>A	uc001fnc.3	+	2	550	c.324G>A	c.(322-324)aaG>aaA	p.K108K		NM_020387	NP_065120	P57735	RAB25_HUMAN	Homo sapiens RAB25, member RAS oncogene family (RAB25), mRNA.	108					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GATGGCTGAAGGAGCTCTATG	0.582													5	211					0	0	1	0	0	A	156038145	G	A	156038145	2	1	66	1	0	0	0	0	0	0	0	1	12912	991	35	2		2	RAB25	1	156038145	Silent	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08	46545619	156038145	93212476	2	1206											
SCYL3	57147	broad.mit.edu	37	chr1	169857896	169857896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgccatcttgcagtacaGcgggataaacagcaagtcca	9	10	1	0			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:169857896G>T	uc001ggs.2	-	1	284	c.86C>A	c.(85-87)gCt>gAt	p.A29D	SCYL3_uc001ggt.2_Missense_Mutation_p.A29D	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	29	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.P28P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGCAGTACAGCGGGATAAAC	0.418													4	112					0	0	1	0	0	T	169857896	G	T	169857896	3	4	66	1	0	0	0	0	1	0	0	0	13949	971	34	4	2194	4	SCYL3	1	169857896	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08	13819751	169857896	79392725	3	1207											
OR2L3	391192	broad.mit.edu	37	chr1	248224344	248224344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcatctatggcctatgatCgttacattgctatttgcttt	8	8	1	1			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:248224344C>T	uc001idx.1	+	0	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTACATTGC	0.443													136	182					0	0	1	0	0	T	248224344	C	T	248224344	3	4	66	1	0	0	0	0	1	0	0	0	11008	884	31	1	363	1	OR2L3	1	248224344	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	78366448	248224344	1026277	4	1208											
TNS1	7145	broad.mit.edu	37	chr2	218696243	218696243	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagagcagacaggggtGtcttggccagacccgggggg	19	11	1	3			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr2:218696243G>C	uc002vgt.2	-	19	3331	c.2933C>G	c.(2932-2934)aCa>aGa	p.T978R	TNS1_uc002vgr.2_Missense_Mutation_p.T978R|TNS1_uc002vgs.2_Missense_Mutation_p.T978R|TNS1_uc010zjv.1_Missense_Mutation_p.T978R	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	978						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGACAGGGGTGTCTTGGCCAG	0.652													8	14					0	0	1	0	0	C	218696243	G	C	218696243	3	2	66	1	0	0	0	0	1	0	0	0	16340	1377	48	4	2330	4	TNS1	2	218696243	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		218696243	24503130	5	1209											
ABI3BP	25890	broad.mit.edu	37	chr3	100567712	100567712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggatagatgtagtttgCtggggagctgaaagaagatt	16	2	0	4			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:100567712C>T	uc003dun.3	-	15	1468	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	ABI3BP_uc003duo.2_Silent_p.Q503Q|ABI3BP_uc011bhd.2_5'Flank|ABI3BP_uc003dum.3_5'Flank	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	461	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGTAGTTTGCTGGGGAGCTG	0.398													3	75					0	0	1	0	0	T	100567712	C	T	100567712	2	4	66	1	0	0	0	0	0	0	0	1	91	796	28	2		2	ABI3BP	3	100567712	Silent	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		100567712	97454718	6	1210											
EPHB1	2047	broad.mit.edu	37	chr3	134670486	134670486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccttctggtctgaggccCcctacctcaaagtagacacc	8	16	3	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:134670486C>T	uc003eqt.3	+	2	772	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.P133S	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	133						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.A132T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTCTGAGGCCCCCTACCTCAA	0.507													72	182					0	0	1	0	0	T	134670486	C	T	134670486	3	4	66	1	0	0	0	0	1	0	0	0	5174	623	22	2	407	2	EPHB1	3	134670486	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	34102774	134670486	63351944	7	1211											
SEC62	7095	broad.mit.edu	37	chr3	169700673	169700673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaaaagagaaaaaaaaaGatggtgaaaaggaagaatcc	10	2	0	5			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:169700673G>A	uc003fgg.3	+	3	461	c.430G>A	c.(430-432)Gat>Aat	p.D144N	SEC62_uc003fgh.3_Missense_Mutation_p.D144N	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	144					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						gaaaaaaaaagatggtgaaaa	0.289													3	48					0	0	1	0	0	A	169700673	G	A	169700673	3	1	66	1	0	0	0	0	1	0	0	0	14004	942	33	2	444	2	SEC62	3	169700673	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08	35030187	169700673	28321757	8	1212											
CACNA1B	774	broad.mit.edu	37	chr9	140809138	140809138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaagtccatcatgaagGccatggttccactcctgcag	9	13	2	1			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr9:140809138G>A	uc004cog.3	+	4	800	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	CACNA1B_uc022bqn.1_Missense_Mutation_p.A219T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	219					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CATCATGAAGGCCATGGTTCC	0.557													12	29					0	0	1	0	0	A	140809138	G	A	140809138	3	1	66	1	0	0	0	0	1	0	0	0	2539	1203	42	2	673	2	CACNA1B	9	140809138	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		140809138	404293	9	1213											
TPH2	121278	broad.mit.edu	37	chr12	72388217	72388217	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgatgtcttttttgtcAgagacacatgccatgaactc	8	8	2	3			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:72388217A>G	uc009zrw.1	+	8	1083	c.942_splice	c.e8-2	p.P314_splice	TPH2_uc001swy.2_Splice_Site_p.P224_splice	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	314					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTTTTTTGTCAGAGACACATG	0.393													82	101					0	0	1	0	0	G	72388217	A	G	72388217	5	3	66	1	0	0	0	0	0	0	1	0	16399	202	7	3	970	3	TPH2	12	72388217	Splice_Site	SNP	A	TCGA-DJ-A13W-01A-11D-A10S-08		72388217	61463678	10	1214											
NAV3	89795	broad.mit.edu	37	chr12	78515989	78515989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcggttcactctttcaCatcaggtggtctcgtgtggg	12	10	5	0			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:78515989C>T	uc001syp.3	+	15	4192	c.4019C>T	c.(4018-4020)aCa>aTa	p.T1340I	NAV3_uc001syo.3_Missense_Mutation_p.T1340I|NAV3_uc010sub.2_Missense_Mutation_p.T840I|NAV3_uc009zsf.3_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1340	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACTCTTTCACATCAGGTGGT	0.517										HNSCC(70;0.22)			13	165					0	0	1	0	0	T	78515989	C	T	78515989	3	4	66	1	0	0	0	0	1	0	0	0	10185	478	17	2	4081	2	NAV3	12	78515989	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	6127772	78515989	55335906	11	1215											
SDK2	54549	broad.mit.edu	37	chr17	71375612	71375612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaacaaagacctcctgCggggggctggagggcccctc	13	16	0	1	rs144878236	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr17:71375612C>T	uc010dfm.3	-	34	4839	c.4839G>A	c.(4837-4839)ccG>ccA	p.P1613P	SDK2_uc002jjt.4_Silent_p.P753P|SDK2_uc010dfn.2_Silent_p.P1292P	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1613	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGACCTCCTGCGGGGGGCTGG	0.657													17	28					0	0	1	0	0	T	71375612	C	T	71375612	2	4	66	1	0	0	0	0	0	0	0	1	13969	755	27	1		1	SDK2	17	71375612	Silent	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		71375612	9819598	12	1216											
KANK2	25959	broad.mit.edu	37	chr19	11287390	11287390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagctggggggcttcggCcacactcggaaccctctccc	12	17	1	1			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr19:11287390C>T	uc002mqm.3	-	4	1727	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	KANK2_uc021upe.1_Missense_Mutation_p.A542T|KANK2_uc002mqo.4_Missense_Mutation_p.A542T|KANK2_uc002mqp.1_Missense_Mutation_p.A351T	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	542										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGCTTCGGCCACACTCGGA	0.622													27	112					0	0	1	0	0	T	11287390	C	T	11287390	3	4	66	1	0	0	0	0	1	0	0	0	7977	739	26	2	959	2	KANK2	19	11287390	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		11287390	47841593	13	1217											
JUNB	3726	broad.mit.edu	37	chr19	12903374	12903374	+	Frame_Shift_Del	DEL	G	G	-													ccggtgtcccccatcaacatGgaagaccaagagcgcatcaa							TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr19:12903374delG	uc002mvc.3	+	0	1065	c.789delG	c.(787-789)atgfs	p.M263fs		NM_002229	NP_002220	P17275	JUNB_HUMAN	Homo sapiens jun B proto-oncogene (JUNB), mRNA.	263						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCATCAACATGGAAGACCAAG	0.706													2	4	---	---	---	---						-	12903374	G	-	12903374	7	5	66	1	0	1	0	1	0	0	0	0	7970	1348	47	0	791	0	JUNB	19	12903374	Frame_Shift_Del	DEL	G	TCGA-DJ-A13W-01A-11D-A10S-08	1615984	12903374	46225609	14	1218											
OCRL	4952	broad.mit.edu	37	chrX	128709875	128709875	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctgttattccccagtTtgtgtttgaaaatgtgaagt	9	6	2	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:128709875T>A	uc004euq.3	+	17	1879	c.1714_splice	c.e17-1	p.F572_splice	OCRL_uc004eur.3_Splice_Site_p.F572_splice	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	572					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATTCCCCAGTTTGTGTTTGAA	0.393													81	111					0	0	1	0	0	A	128709875	T	A	128709875	5	1	66	1	0	0	0	0	0	0	1	0	10823	1855	64	5	1781	5	OCRL	23	128709875	Splice_Site	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08		128709875	26560685	15	1219			1	6		2	2	21	T		1.033694e-05
OCRL	4952	broad.mit.edu	37	chrX	128709895	128709895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttgaaaatgtgaagTttcggcaactacaaaaggag	11	4	0	2			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:128709895T>C	uc004euq.3	+	16	1900	c.1735T>C	c.(1735-1737)Ttt>Ctt	p.F579L	OCRL_uc004eur.3_Missense_Mutation_p.F579L	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	579					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAATGTGAAGTTTCGGCAACT	0.408													85	129					0	0	1	0	0	C	128709895	T	C	128709895	3	2	66	1	0	0	0	0	1	0	0	0	10823	1725	60	3	1801	3	OCRL	23	128709895	Missense_Mutation	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08	20	128709895	26560665	16	1220			1	6		2	2	21	T		1.033694e-05
BRDT	676	broad.mit.edu	37	chr1	92430277	92430277	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgaaggcttcagaatgtataGaagacttcaatacaatgttc	8	7	2	3			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:92430277G>C	uc010osz.2	+	2	635	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	BRDT_uc001dol.4_Missense_Mutation_p.E96Q|BRDT_uc001dok.4_Missense_Mutation_p.E96Q|BRDT_uc009wdf.3_Missense_Mutation_p.E23Q|BRDT_uc010otb.2_Intron|BRDT_uc010ota.2_Intron|BRDT_uc001dom.4_Missense_Mutation_p.E96Q	NM_001242806	NP_001229735	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 4, mRNA.	96	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAATGTATAGAAGACTTCAA	0.289													4	77					0	0	1	0	0	C	92430277	G	C	92430277	3	2	67	1	0	0	0	0	1	0	0	0	1508	943	33	4	292	4	BRDT	1	92430277	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		92430277	156820344	1	1221											
FNDC7	163479	broad.mit.edu	37	chr1	109268557	109268557	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgtggcttcacttatTttattagtgtttttgtctat	8	5	2	1			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:109268557T>G	uc001dvx.3	+	5	1042	c.1042T>G	c.(1042-1044)Ttt>Gtt	p.F348V	FNDC7_uc010ova.2_Missense_Mutation_p.F115V	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	349	Fibronectin type-III 4.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTCACTTATTTTATTAGTGT	0.398													9	198					0	0	1	0	0	G	109268557	T	G	109268557	3	3	67	1	0	0	0	0	1	0	0	0	5973	1841	64	5	1064	5	FNDC7	1	109268557	Missense_Mutation	SNP	T	TCGA-DJ-A13X-01A-11D-A10S-08	16838280	109268557	139982064	2	1222											
FAM110C	642273	broad.mit.edu	37	chr2	45588	45589	+	Missense_Mutation	DNP	GC	GC	CA													tcctgcagcccctcgtcgtcGccgccgctgtgccgggagaa							TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr2:45588_45589GC>CA	uc010yim.2	-	0	1000_1001	c.797_798GC>TG	c.(796-798)ggc>gTG	p.G266V		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	266						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CCTCGTCGTCGCCGCCGCTGTG	0.663													3	7					0	0	1	0	0	CA	45589	GC	CA	45588	3	2	67	1	0	0	0	0	1	0	0	0	5398	1074	38	4	175	4	FAM110C	2	45588	Missense_Mutation	DNP	GC	TCGA-DJ-A13X-01A-11D-A10S-08		45588	243153785	3	1223											
AMZ1	155185	broad.mit.edu	37	chr7	2740235	2740235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgaggcctacaacccGcagaggacgctcttctgcac	11	16	2	1			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:2740235G>A	uc003smr.1	+	1	511	c.150G>A	c.(148-150)ccG>ccA	p.P50P	AMZ1_uc003sms.1_Silent_p.P50P|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	50							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTACAACCCGCAGAGGACGC	0.662													7	253					0	0	1	0	0	A	2740235	G	A	2740235	2	1	67	1	0	0	0	0	0	0	0	1	596	1074	38	1		1	AMZ1	7	2740235	Silent	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		2740235	156398428	4	1224											
CCM2	83605	broad.mit.edu	37	chr7	45067320	45067320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgcatagtagctgtcGgcagaggaggaaccagaatc	14	7	0	3			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:45067320G>A	uc003tms.3	+	0	88	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	CCM2_uc003tmn.3_Intron|CCM2_uc003tmo.3_Intron|CCM2_uc003tmp.3_Intron|CCM2_uc003tmr.3_Intron|CCM2_uc011kcb.2_Missense_Mutation_p.R6Q|CCM2_uc011kcc.2_Missense_Mutation_p.R6Q	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	0					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGCTGTCGGCAGAGGAGG	0.433													16	67					0	0	1	0	0	A	45067320	G	A	45067320	3	1	67	1	0	0	0	0	1	0	0	0	2908	1116	39	1	53	1	CCM2	7	45067320	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	42327085	45067320	114071343	5	1225											
SRRT	51593	broad.mit.edu	37	chr7	100482086	100482086	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagcctggggagcccagcaaGaaagaagaaggacgggctgg	17	8	0	3			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:100482086G>C	uc003uwy.2	+	6	1122	c.855G>C	c.(853-855)aaG>aaC	p.K285N	SRRT_uc010lhl.1_Missense_Mutation_p.K285N|SRRT_uc003uxa.2_Missense_Mutation_p.K285N|SRRT_uc003uwz.2_Missense_Mutation_p.K285N	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	285	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCAGCAAGAAAGAAGAAG	0.592													3	32					0	0	1	0	0	C	100482086	G	C	100482086	3	2	67	1	0	0	0	0	1	0	0	0	15171	933	33	4	877	4	SRRT	7	100482086	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	55414766	100482086	58656577	6	1226											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				34	54					0	0	1	0	0	T	140453136	A	T	140453136	3	4	67	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13X-01A-11D-A10S-08	39971050	140453136	18685527	7	1227											
HKDC1	80201	broad.mit.edu	37	chr10	71010063	71010063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaaaggaaagtttctcGccctggatcttgggggaacc	13	9	2	1	rs148336562	by1000genomes	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:71010063G>A	uc001jpf.4	+	10	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_uc010qje.2_Missense_Mutation_p.A393T	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	530					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547													10	277					0	0	1	0	0	A	71010063	G	A	71010063	3	1	67	1	0	0	0	0	1	0	0	0	7193	1087	38	1	1630	1	HKDC1	10	71010063	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		71010063	64524684	8	1228											
GRID1	2894	broad.mit.edu	37	chr10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgttcttgctgatggtccGccagagttcagcaaacgtgc	11	12	2	2			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:87407024G>A	uc001kdl.1	-	12	2229	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.R281W|AX746544_uc001kdm.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	710						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			6	434					0	0	1	0	0	A	87407024	G	A	87407024	3	1	67	1	0	0	0	0	1	0	0	0	6771	1086	38	1	917	1	GRID1	10	87407024	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	16396961	87407024	48127723	9	1229											
GANAB	23193	broad.mit.edu	37	chr11	62396401	62396401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaagtgggcatgtgcccGgaagaatggctggtaagcac	15	9	0	1			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr11:62396401G>A	uc001nua.3	-	17	2119	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W	GANAB_uc001nub.3_Missense_Mutation_p.R674W|GANAB_uc001nuc.3_Missense_Mutation_p.R577W|GANAB_uc010rma.2_Missense_Mutation_p.R582W|GANAB_uc010rmb.2_Missense_Mutation_p.R560W	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	674					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GCATGTGCCCGGAAGAATGGC	0.542													4	225					0	0	1	0	0	A	62396401	G	A	62396401	3	1	67	1	0	0	0	0	1	0	0	0	6233	1115	39	1	846	1	GANAB	11	62396401	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		62396401	72610115	10	1230											
TRPC4	7223	broad.mit.edu	37	chr13	38357319	38357319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaatttcagcttcctctaggGatttcttgacactggcataa	7	9	3	1			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr13:38357319G>T	uc010abx.3	-	1	387	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.S51Y|TRPC4_uc001uws.3_Missense_Mutation_p.S51Y|TRPC4_uc010tey.2_Missense_Mutation_p.S51Y|TRPC4_uc010abw.3_Missense_Mutation_p.S51Y|TRPC4_uc010aby.3_Missense_Mutation_p.S51Y	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	51					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCTCTAGGGATTTCTTGAC	0.388													6	229					0	0	1	0	0	T	38357319	G	T	38357319	3	4	67	1	0	0	0	0	1	0	0	0	16577	1174	41	4	2836	4	TRPC4	13	38357319	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		38357319	76812559	11	1231											
ALKBH1	8846	broad.mit.edu	37	chr14	78142152	78142152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctctgagaggaaacccAggtcagaagggaaaggtgtg	15	7	2	2			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr14:78142152A>G	uc001xuc.1	-	4	596	c.587T>C	c.(586-588)cTg>cCg	p.L196P		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	196					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAGGAAACCCAGGTCAGAAGG	0.448													3	91					0	0	1	0	0	G	78142152	A	G	78142152	3	3	67	1	0	0	0	0	1	0	0	0	526	188	7	3	590	3	ALKBH1	14	78142152	Missense_Mutation	SNP	A	TCGA-DJ-A13X-01A-11D-A10S-08		78142152	29207388	12	1232											
MYO1E	4643	broad.mit.edu	37	chr15	59510196	59510196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggatggattcggatttgCctccccacttgctatccatc	9	13	0	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr15:59510196C>T	uc002aga.3	-	9	1373	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	334	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity	p.G333R(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TTCGGATTTGCCTCCCCACTT	0.527													8	194					0	0	1	0	0	T	59510196	C	T	59510196	3	4	67	1	0	0	0	0	1	0	0	0	10072	739	26	2	2401	2	MYO1E	15	59510196	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		59510196	43021196	13	1233											
ACSM2A	123876	broad.mit.edu	37	chr16	20491997	20491997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttccagtttatgggacggGcaaatgatatcattaactcc	8	8	1	1	rs141811117	by1000genomes	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:20491997G>A	uc010bwe.3	+	11	1623	c.1384G>A	c.(1384-1386)Gca>Aca	p.A462T	ACSM2A_uc010vax.1_Missense_Mutation_p.A383T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A462T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A462T|ACSM2A_uc010vay.2_Missense_Mutation_p.A383T|ACSM2A_uc002dhh.4_Missense_Mutation_p.A92T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	462					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R461R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TATGGGACGGGCAAATGATAT	0.498													4	160					0	0	1	0	0	A	20491997	G	A	20491997	3	1	67	1	0	0	0	0	1	0	0	0	183	1203	42	2	1422	2	ACSM2A	16	20491997	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		20491997	69862756	14	1234											
SRCAP	10847	broad.mit.edu	37	chr16	30715587	30715587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacctggctaacaaggGcccgaagtgggagaagagcc	15	10	0	3			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:30715587G>A	uc002dze.1	+	3	642	c.257G>A	c.(256-258)gGc>gAc	p.G86D	SRCAP_uc021tgn.1_Missense_Mutation_p.G86D|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	86					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTAACAAGGGCCCGAAGTGG	0.537													9	203					0	0	1	0	0	A	30715587	G	A	30715587	3	1	67	1	0	0	0	0	1	0	0	0	15134	1203	42	2	263	2	SRCAP	16	30715587	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	10223590	30715587	59639166	15	1235											
C16orf86	388284	broad.mit.edu	37	chr16	67701334	67701334	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaagctgggggaggagcggCccaagccgcatgccggggcg	19	13	0	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:67701334C>G	uc002ety.3	+	1	395	c.238C>G	c.(238-240)Ccc>Gcc	p.P80A	C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.3_Non-coding_Transcript	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.	80										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGAGGAGCGGCCCAAGCCGCA	0.667													3	19					0	0	1	0	0	G	67701334	C	G	67701334	3	3	67	1	0	0	0	0	1	0	0	0	1839	739	26	4	244	4	C16orf86	16	67701334	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08	36985747	67701334	22653419	16	1236											
NFIC	4782	broad.mit.edu	37	chr19	3452590	3452590	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggccatccgctacccacctCatctcaacccccaggacccg	6	22	2	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:3452590C>T	uc010xhi.2	+	7	1265	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	NFIC_uc002lxo.3_Missense_Mutation_p.H390Y|NFIC_uc010xhh.2_Missense_Mutation_p.H390Y|NFIC_uc010xhj.2_Missense_Mutation_p.H399Y|NFIC_uc002lxp.3_Missense_Mutation_p.H399Y	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	399					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTACCCACCTCATCTCAACCC	0.657													6	253					0	0	1	0	0	T	3452590	C	T	3452590	3	4	67	1	0	0	0	0	1	0	0	0	10372	826	29	2	1232	2	NFIC	19	3452590	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		3452590	55676393	17	1237											
ZNF83	55769	broad.mit.edu	37	chr19	53116715	53116715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttataaggtttctcaccgGcatgaattatcagatgttgg	9	7	2	2			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:53116715G>A	uc002pzu.4	-	1	2347	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	ZNF83_uc002pzv.4_Missense_Mutation_p.A368V|ZNF83_uc010eps.3_Missense_Mutation_p.A340V|ZNF83_uc010ept.3_Missense_Mutation_p.A368V|ZNF83_uc010epu.3_Missense_Mutation_p.A368V|ZNF83_uc010epw.3_Missense_Mutation_p.A368V|ZNF83_uc010epv.3_Missense_Mutation_p.A368V|ZNF83_uc010epx.3_Missense_Mutation_p.A340V|ZNF83_uc010epy.3_Missense_Mutation_p.A368V|ZNF83_uc010epz.3_Missense_Mutation_p.A340V|ZNF83_uc010eqb.2_Missense_Mutation_p.A340V|ZNF83_uc021uyx.1_Missense_Mutation_p.A368V	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	368						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTTCTCACCGGCATGAATTAT	0.403													4	182					0	0	1	0	0	A	53116715	G	A	53116715	3	1	67	1	0	0	0	0	1	0	0	0	18180	1203	42	2	451	2	ZNF83	19	53116715	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	49664125	53116715	6012268	18	1238											
NLRP5	126206	broad.mit.edu	37	chr19	56561809	56561809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtgccacctggacacgGctggctgtggttttcttgca	12	11	2	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:56561809G>A	uc002qmj.3	+	11	2983	c.2983G>A	c.(2983-2985)Gct>Act	p.A995T	NLRP5_uc002qmi.3_Missense_Mutation_p.A976T	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	995						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGACACGGCTGGCTGTGG	0.547													3	48					0	0	1	0	0	A	56561809	G	A	56561809	3	1	67	1	0	0	0	0	1	0	0	0	10480	1203	42	2	3029	2	NLRP5	19	56561809	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	3445094	56561809	2567174	19	1239											
FAM83D	81610	broad.mit.edu	37	chr20	37576551	37576551	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cggactatcacaggaaatatCtactatgcaaggtcaggaac	9	9	3	0			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr20:37576551C>G	uc002xjg.3	+	2	815	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	228					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CAGGAAATATCTACTATGCAA	0.428													5	161					0	0	1	0	0	G	37576551	C	G	37576551	3	3	67	1	0	0	0	0	1	0	0	0	5636	903	32	4	784	4	FAM83D	20	37576551	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		37576551	25448969	20	1240											
AMPD2	271	broad.mit.edu	37	chr1	110170763	110170763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatctgctgcgcttcaTcaagcgggcaatgaagcggc	13	11	3	1			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr1:110170763T>C	uc009wfh.1	+	10	1843	c.1301T>C	c.(1300-1302)aTc>aCc	p.I434T	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.I353T|AMPD2_uc001dyc.1_Missense_Mutation_p.I434T|AMPD2_uc010ovr.1_Missense_Mutation_p.I359T|AMPD2_uc010ovs.1_Missense_Mutation_p.I316T|AMPD2_uc001dyd.1_Missense_Mutation_p.I315T|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	434					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCGCTTCATCAAGCGGGCA	0.597													4	20					0	0	1	0	0	C	110170763	T	C	110170763	3	2	68	1	0	0	0	0	1	0	0	0	586	1435	50	3	1380	3	AMPD2	1	110170763	Missense_Mutation	SNP	T	TCGA-DJ-A1QD-01A-11D-A14W-08		110170763	139079858	1	1241											
OBSCN	84033	broad.mit.edu	37	chr1	228437938	228437938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccttcagcctggacgtgGcaggtcagtgctttgtgggc	14	11	3	0			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr1:228437938G>A	uc009xez.1	+	13	4350	c.4306G>A	c.(4306-4308)Gca>Aca	p.A1436T	OBSCN_uc001hsn.3_Missense_Mutation_p.A1436T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1436					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGGACGTGGCAGGTCAGTG	0.632													4	106					0	0	1	0	0	A	228437938	G	A	228437938	3	1	68	1	0	0	0	0	1	0	0	0	10812	1203	42	2	4356	2	OBSCN	1	228437938	Missense_Mutation	SNP	G	TCGA-DJ-A1QD-01A-11D-A14W-08	118267175	228437938	20812683	2	1242											
SPINK9	643394	broad.mit.edu	37	chr5	147716006	147716006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagaatgtgccaaacagaCgaaacagatggtcagtacac	9	8	1	3			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr5:147716006C>T	uc003lpe.1	+	1	132	c.77C>T	c.(76-78)aCg>aTg	p.T26M	AK054753_uc003lpb.1_Intron	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 9 (SPINK9), mRNA.	26	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAACAGACGAAACAGATG	0.303													24	88					0	0	1	0	0	T	147716006	C	T	147716006	3	4	68	1	0	0	0	0	1	0	0	0	15065	536	19	1	83	1	SPINK9	5	147716006	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		147716006	33199254	3	1243											
VNN2	8875	broad.mit.edu	37	chr6	133070907	133070907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catactctgttccaaatgtgCcactgagggagaacatttca	8	10	2	2			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr6:133070907C>T	uc003qdt.3	-	5	1309	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	VNN2_uc003qds.3_Missense_Mutation_p.G142D|VNN2_uc010kgb.3_Missense_Mutation_p.G212D|VNN2_uc003qdv.3_Missense_Mutation_p.G380D	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	433					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCCAAATGTGCCACTGAGGGA	0.393													3	40					0	0	1	0	0	T	133070907	C	T	133070907	3	4	68	1	0	0	0	0	1	0	0	0	17180	739	26	2	272	2	VNN2	6	133070907	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		133070907	38044160	4	1244											
CCDC132	55610	broad.mit.edu	37	chr7	92869233	92869233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgccatagagagtctcCgggtccctggaaaggtattg	14	8	1	1			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:92869233C>T	uc003umo.3	+	1	216	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CCDC132_uc003ump.3_5'UTR|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.R30W|CCDC132_uc003umn.3_Missense_Mutation_p.R30W	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	30										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGAGTCTCCGGGTCCCTGG	0.393													3	79					0	0	1	0	0	T	92869233	C	T	92869233	3	4	68	1	0	0	0	0	1	0	0	0	2767	643	23	1	94	1	CCDC132	7	92869233	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		92869233	66269430	5	1245											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	41					0	0	1	0	0	T	140453136	A	T	140453136	3	4	68	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QD-01A-11D-A14W-08	47583903	140453136	18685527	6	1246											
TMEM176B	28959	broad.mit.edu	37	chr7	150493471	150493471	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacccctagagccagctgctCataaccaatcctggctgtgg	9	14	1	1	rs141592438	byFrequency	TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:150493471C>T	uc022apx.1	-	0	313	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TMEM176B_uc003whu.4_Missense_Mutation_p.E63K|TMEM176B_uc003whv.4_Missense_Mutation_p.E63K|TMEM176B_uc003whw.4_Missense_Mutation_p.E63K	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	63					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.E63Q(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCAGCTGCTCATAACCAATC	0.498													21	36					0	0	1	0	0	T	150493471	C	T	150493471	3	4	68	1	0	0	0	0	1	0	0	0	16090	835	29	2	649	2	TMEM176B	7	150493471	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08	10040335	150493471	8645192	7	1247											
KIAA1432	57589	broad.mit.edu	37	chr9	5765543	5765543	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccattggctctggagaatctGagacacctccatccacaccc	7	16	2	2			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr9:5765543G>A	uc003zjl.4	+	18	3051	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	KIAA1432_uc003zjh.3_Missense_Mutation_p.E912K|KIAA1432_uc003zji.3_Missense_Mutation_p.E912K|KIAA1432_uc003zjj.1_Missense_Mutation_p.E454K	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	991						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGAGAATCTGAGACACCTCC	0.458													17	168					0	0	1	0	0	A	5765543	G	A	5765543	3	1	68	1	0	0	0	0	1	0	0	0	8233	1291	45	2	2808	2	KIAA1432	9	5765543	Missense_Mutation	SNP	G	TCGA-DJ-A1QD-01A-11D-A14W-08		5765543	135447888	8	1248											
BIN2	51411	broad.mit.edu	37	chr12	51696492	51696492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacgatggccttcagctccTcatgaccgtcccactcgctg	8	16	2	1			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr12:51696492T>C	uc001ryg.3	-	3	342	c.290A>G	c.(289-291)gAg>gGg	p.E97G	BIN2_uc009zlz.3_Missense_Mutation_p.E97G|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.E71G	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	97	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTTCAGCTCCTCATGACCGTC	0.468													3	164					0	0	1	0	0	C	51696492	T	C	51696492	3	2	68	1	0	0	0	0	1	0	0	0	1433	1551	54	3	1447	3	BIN2	12	51696492	Missense_Mutation	SNP	T	TCGA-DJ-A1QD-01A-11D-A14W-08		51696492	82155403	9	1249											
ACAN	176	broad.mit.edu	37	chr15	89401667	89401667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaacccaggctccaacaGcccaagaggcaggagaaggg	13	12	0	2			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr15:89401667G>A	uc010upo.1	+	11	6225	c.5851G>A	c.(5851-5853)Gcc>Acc	p.A1951T	ACAN_uc010upp.1_Missense_Mutation_p.A1951T|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1951					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCTCCAACAGCCCAAGAGGC	0.517													13	64					0	0	1	0	0	A	89401667	G	A	89401667	3	1	68	1	0	0	0	0	1	0	0	0	117	971	34	2	5893	2	ACAN	15	89401667	Missense_Mutation	SNP	G	TCGA-DJ-A1QD-01A-11D-A14W-08		89401667	13129725	10	1250											
KLHL10	317719	broad.mit.edu	37	chr17	40001678	40001678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgaggaagagagtcccCgtgcctaccatggggcagcc	14	12	0	2			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr17:40001678C>A	uc010cxr.3	+	2	1127	c.985C>A	c.(985-987)Cgt>Agt	p.R329S	KLHL10_uc010wfv.1_Missense_Mutation_p.R323S|KLHL10_uc010wfw.2_Missense_Mutation_p.R241S	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	329						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGAGAGTCCCCGTGCCTACCA	0.493													3	54					0	0	1	0	0	A	40001678	C	A	40001678	3	1	68	1	0	0	0	0	1	0	0	0	8366	652	23	4	995	4	KLHL10	17	40001678	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		40001678	41193532	11	1251											
PLD5	200150	broad.mit.edu	37	chr1	242428743	242428743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaacttttcaaaaagaCgttgaccctggaaaaaatat	8	7	1	2			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr1:242428743C>T	uc001hzn.2	-	4	730	c.503G>A	c.(502-504)cGt>cAt	p.R168H	PLD5_uc021pll.1_Missense_Mutation_p.R76H|PLD5_uc001hzl.4_Missense_Mutation_p.R106H|PLD5_uc001hzm.4_5'UTR|PLD5_uc001hzo.2_Missense_Mutation_p.R76H	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	168						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTCAAAAAGACGTTGACCCTG	0.313													19	33					0	0	1	0	0	T	242428743	C	T	242428743	3	4	69	1	0	0	0	0	1	0	0	0	12049	536	19	1	1135	1	PLD5	1	242428743	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		242428743	6821878	1	1252											
PHF7	51533	broad.mit.edu	37	chr3	52454958	52454958	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaacacagaacatccaAcatgggcatgtgggggagga	13	11	0	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:52454958A>G	uc003ddy.3	+	6	1259	c.453A>G	c.(451-453)caA>caG	p.Q151Q	PHF7_uc003ddz.3_Silent_p.Q151Q	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	151						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGAACATCCAACATGGGCATG	0.468													44	61					0	0	1	0	0	G	52454958	A	G	52454958	2	3	69	1	0	0	0	0	0	0	0	1	11839	40	2	3		3	PHF7	3	52454958	Silent	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08		52454958	145567472	2	1253											
PLA1A	51365	broad.mit.edu	37	chr3	119336952	119336952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtccactgatggcctttCcctgtgccagctacaaggcc	9	16	0	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:119336952C>T	uc003ecu.3	+	6	907	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	PLA1A_uc003ecv.3_Missense_Mutation_p.P265S|PLA1A_uc011bjc.2_Missense_Mutation_p.P108S|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	281					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGCCTTTCCCTGTGCCAG	0.498													26	318					0	0	1	0	0	T	119336952	C	T	119336952	3	4	69	1	0	0	0	0	1	0	0	0	11988	855	30	2	867	2	PLA1A	3	119336952	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	66881994	119336952	78685478	3	1254											
RPL22L1	200916	broad.mit.edu	37	chr3	170586127	170586127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcttctactggatgaGtaaggtccaaattaaacctc	6	10	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:170586127G>T	uc003fhc.4	-	1	151	c.62C>A	c.(61-63)aCt>aAt	p.T21N	RPL22L1_uc003fhb.4_Non-coding_Transcript	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	Homo sapiens ribosomal protein L22-like 1 (RPL22L1), mRNA.	21					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TACTGGATGAGTAAGGTCCAA	0.313													19	25					0	0	1	0	0	T	170586127	G	T	170586127	3	4	69	1	0	0	0	0	1	0	0	0	13569	1029	36	4	318	4	RPL22L1	3	170586127	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08	51249175	170586127	27436303	4	1255											
LOX	4015	broad.mit.edu	37	chr5	121409788	121409788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacagaaacttgctttgtGgccttcagccactctcctct	7	13	3	2			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr5:121409788G>A	uc003ksu.3	-	3	1330	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	LOX_uc010jcp.3_Missense_Mutation_p.H22Y|LOX_uc010jcq.3_Missense_Mutation_p.H22Y|LOX_uc010jcr.3_Missense_Mutation_p.H22Y|LOX_uc011cwk.2_Missense_Mutation_p.H89Y	NM_002317	NP_002308	P28300	LYOX_HUMAN	Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.	319	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTTGCTTTGTGGCCTTCAGCC	0.468													4	123					0	0	1	0	0	A	121409788	G	A	121409788	3	1	69	1	0	0	0	0	1	0	0	0	8898	1348	47	2	314	2	LOX	5	121409788	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08		121409788	59505472	5	1256											
SPAM1	6677	broad.mit.edu	37	chr7	123599696	123599696	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtgactatcttcacctcaaCccagataattttgctattca	4	11	4	2			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr7:123599696C>G	uc003vle.3	+	4	1642	c.1203C>G	c.(1201-1203)aaC>aaG	p.N401K	SPAM1_uc011koa.1_Missense_Mutation_p.N57K|SPAM1_uc003vld.3_Missense_Mutation_p.N401K|SPAM1_uc022aks.1_Missense_Mutation_p.N401K|SPAM1_uc003vlf.4_Missense_Mutation_p.N401K|SPAM1_uc010lku.3_Missense_Mutation_p.N401K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	401					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.L400F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTCACCTCAACCCAGATAATT	0.403													9	69					0	0	1	0	0	G	123599696	C	G	123599696	3	3	69	1	0	0	0	0	1	0	0	0	14986	506	18	4	1213	4	SPAM1	7	123599696	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		123599696	35538967	6	1257											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	29					0	0	1	0	0	T	140453136	A	T	140453136	3	4	69	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08	16853440	140453136	18685527	7	1258											
KIAA0146	23514	broad.mit.edu	37	chr8	48625364	48625364	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtgtgtgctgggctcTgaagtcctggaggcactcgc	14	12	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr8:48625364T>C	uc003xqd.3	+	14	2180	c.2118T>C	c.(2116-2118)tcT>tcC	p.S706S	KIAA0146_uc011ldb.2_Silent_p.S706S|KIAA0146_uc010lxs.3_Silent_p.S181S|KIAA0146_uc011ldc.2_Silent_p.S636S|KIAA0146_uc011ldd.2_Silent_p.S646S|KIAA0146_uc003xqe.3_Silent_p.S181S|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Silent_p.S395S|KIAA0146_uc010lxt.3_Silent_p.S395S|KIAA0146_uc011ldf.2_Silent_p.S211S|KIAA0146_uc011ldg.2_Silent_p.S196S|KIAA0146_uc003xqg.1_5'Flank	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	706										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TGCTGGGCTCTGAAGTCCTGG	0.597													3	101					0	0	1	0	0	C	48625364	T	C	48625364	2	2	69	1	0	0	0	0	0	0	0	1	8157	1567	55	3		3	KIAA0146	8	48625364	Silent	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		48625364	97738658	8	1259											
EXT1	2131	broad.mit.edu	37	chr8	118817027	118817027	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggaggcaattttgtcacAgcagacaccaggaagttcat	10	8	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr8:118817027A>G	uc003yok.1	-	9	2762	c.1989T>C	c.(1987-1989)gcT>gcC	p.A663A		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	663					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ATTTTGTCACAGCAGACACCA	0.468			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				17	69					0	0	1	0	0	G	118817027	A	G	118817027	2	3	69	1	0	0	0	0	0	0	0	1	5323	175	7	3		3	EXT1	8	118817027	Silent	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08	70191663	118817027	27546995	9	1260											
APBB1	322	broad.mit.edu	37	chr11	6422254	6422254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtacattccccaggtaaTagacttggaacttctggacc	9	11	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr11:6422254T>C	uc001mdb.1	-	10	1731	c.1631A>G	c.(1630-1632)tAt>tGt	p.Y544C	APBB1_uc001mdd.3_Missense_Mutation_p.Y324C|APBB1_uc001mdc.1_Missense_Mutation_p.Y544C|APBB1_uc010rab.2_Missense_Mutation_p.Y71C	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	546	PID 2.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCAGGTAATAGACTTGGAA	0.498													156	177					0	0	1	0	0	C	6422254	T	C	6422254	3	2	69	1	0	0	0	0	1	0	0	0	759	1406	49	3	511	3	APBB1	11	6422254	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		6422254	128584262	10	1261											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190952	17190952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactggtaatacaggtgtttTtttagtctcgaaactgtcat	8	6	2	0			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr11:17190952T>G	uc001mmq.4	-	0	402	c.337A>C	c.(337-339)Aaa>Caa	p.K113Q	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.K113Q|PIK3C2A_uc009ygv.1_Missense_Mutation_p.K113Q	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	113	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ACAGGTGTTTTTTTAGTCTCG	0.403													12	133					0	0	1	0	0	G	17190952	T	G	17190952	3	3	69	1	0	0	0	0	1	0	0	0	11909	1850	64	5	4851	5	PIK3C2A	11	17190952	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08	10768698	17190952	117815564	11	1262											
MMP17	4326	broad.mit.edu	37	chr12	132334395	132334395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacgtagaggaaggataccCgcgccccgtctccgacttca	10	14	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr12:132334395C>T	uc001ujc.1	+	8	1352	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	MMP17_uc001ujd.1_Missense_Mutation_p.P334L	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	418	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GAAGGATACCCGCGCCCCGTC	0.617													5	80					0	0	1	0	0	T	132334395	C	T	132334395	3	4	69	1	0	0	0	0	1	0	0	0	9656	652	23	1	1287	1	MMP17	12	132334395	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		132334395	1517500	12	1263											
FAM179B	23116	broad.mit.edu	37	chr14	45542645	45542645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacagccacagctaaattaTcaaaagcactctttgcacag	6	11	2	0			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr14:45542645T>C	uc001wvw.3	+	19	5412	c.5203T>C	c.(5203-5205)Tca>Cca	p.S1735P	FAM179B_uc001wvv.3_Missense_Mutation_p.S1682P|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1682							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCTAAATTATCAAAAGCACT	0.408													9	44					0	0	1	0	0	C	45542645	T	C	45542645	3	2	69	1	0	0	0	0	1	0	0	0	5506	1435	50	3	5118	3	FAM179B	14	45542645	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		45542645	61806895	13	1264											
PPP1R13B	23368	broad.mit.edu	37	chr14	104224043	104224043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgttgcctagctgccaTatcttggagctctgagaggg	13	10	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr14:104224043T>C	uc001yof.1	-	4	683	c.400A>G	c.(400-402)Atg>Gtg	p.M134V	PPP1R13B_uc001yog.1_Missense_Mutation_p.M1V	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	134	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTAGCTGCCATATCTTGGAGC	0.388													4	90					0	0	1	0	0	C	104224043	T	C	104224043	3	2	69	1	0	0	0	0	1	0	0	0	12357	1406	49	3	2924	3	PPP1R13B	14	104224043	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08	58681398	104224043	3125497	14	1265											
PRPF8	10594	broad.mit.edu	37	chr17	1564570	1564570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccctctacatacctgatActgcttaaagtcagttctga	6	12	3	2			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:1564570A>C	uc002fte.3	-	26	4447	c.4333T>G	c.(4333-4335)Tat>Gat	p.Y1445D		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1445						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CATACCTGATACTGCTTAAAG	0.512													23	100					0	0	1	0	0	C	1564570	A	C	1564570	3	2	69	1	0	0	0	0	1	0	0	0	12575	391	14	5	2742	5	PRPF8	17	1564570	Missense_Mutation	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08		1564570	79630640	15	1266											
NBR1	4077	broad.mit.edu	37	chr17	41342634	41342634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccccacagcctatgccCatcctacaatatctgtgaag	5	15	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:41342634C>T	uc010czd.3	+	8	844	c.704C>T	c.(703-705)cCa>cTa	p.P235L	NBR1_uc010diz.3_Missense_Mutation_p.P235L|NBR1_uc010whu.2_Missense_Mutation_p.P235L|NBR1_uc010whv.2_Missense_Mutation_p.P235L|NBR1_uc010whw.2_Missense_Mutation_p.P214L|NBR1_uc010whx.1_Missense_Mutation_p.P44L	NM_031862	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 3, mRNA.	235					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCCTATGCCCATCCTACAAT	0.483													4	10					0	0	1	0	0	T	41342634	C	T	41342634	3	4	69	1	0	0	0	0	1	0	0	0	10200	594	21	2	734	2	NBR1	17	41342634	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	39778064	41342634	39852576	16	1267											
ITGA3	3675	broad.mit.edu	37	chr17	48156258	48156258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcatgaaaactgtggagGatgtaggaagccccctcaag	13	9	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:48156258G>A	uc010dbm.3	+	18	2832	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	ITGA3_uc010dbl.3_Missense_Mutation_p.D790N	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	790					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AACTGTGGAGGATGTAGGAAG	0.517													42	71					0	0	1	0	0	A	48156258	G	A	48156258	3	1	69	1	0	0	0	0	1	0	0	0	7877	1174	41	2	2442	2	ITGA3	17	48156258	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08	6813624	48156258	33038952	17	1268											
MED16	10025	broad.mit.edu	37	chr19	889754	889754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctattagccaggtggtccgCcatgctccagcacttgatct	10	13	1	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr19:889754C>T	uc002lqd.1	-	3	482	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	MED16_uc002lqe.3_Missense_Mutation_p.A100T|MED16_uc002lqf.3_Missense_Mutation_p.A100T|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.A100T|MED16_uc010xfx.1_Missense_Mutation_p.A100T|MED16_uc010xfy.1_Missense_Mutation_p.A100T	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	111					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGTCCGCCATGCTCCAG	0.617													5	12					0	0	1	0	0	T	889754	C	T	889754	3	4	69	1	0	0	0	0	1	0	0	0	9434	739	26	2	2354	2	MED16	19	889754	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		889754	58239229	18	1269											
ZNF700	90592	broad.mit.edu	37	chr19	12059975	12059975	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgccaagtcatttcaaaCacatgaaaaaactcacactg	4	11	4	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr19:12059975C>A	uc010xme.2	+	4	1381	c.1190C>A	c.(1189-1191)aCa>aAa	p.T397K	ZNF700_uc002msu.3_Missense_Mutation_p.T379K|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCATTTCAAACACATGAAAAA	0.353													3	64					0	0	1	0	0	A	12059975	C	A	12059975	3	1	69	1	0	0	0	0	1	0	0	0	18101	478	17	4	1150	4	ZNF700	19	12059975	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	11170221	12059975	47069008	19	1270											
ARSE	415	broad.mit.edu	37	chrX	2864076	2864076	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctacgttgtccccataCagcccgtggagactcttccc	7	17	2	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chrX:2864076C>A	uc011mhh.2	-	7	1490	c.1029G>T	c.(1027-1029)ctG>ctT	p.L343L	ARSE_uc011mhi.2_Silent_p.L264L|ARSE_uc004crc.4_Silent_p.L318L			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	318					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGTCCCCATACAGCCCGTGGA	0.498													44	63					0	0	1	0	0	A	2864076	C	A	2864076	2	1	69	1	0	0	0	0	0	0	0	1	990	465	17	4		4	ARSE	23	2864076	Silent	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		2864076	152406484	20	1271											
USP51	158880	broad.mit.edu	37	chrX	55514742	55514742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgctggtagatcaacctcaGgttcttctgccagttcttac	8	12	5	1			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chrX:55514742G>C	uc004dun.2	-	1	710	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V	USP51_uc022bxu.1_Missense_Mutation_p.L211V	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	211					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCAACCTCAGGTTCTTCTGC	0.502													6	36					0	0	1	0	0	C	55514742	G	C	55514742	3	2	69	1	0	0	0	0	1	0	0	0	17080	991	35	4	1508	4	USP51	23	55514742	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08	52650666	55514742	99755818	21	1272											
ANGPTL1	9068	broad.mit.edu	37	chr1	178834453	178834453	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggattttgttttccagTtgggaaagttcaagtgaatt	11	3	1	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr1:178834453T>C	uc001gma.3	-	2	935	c.459A>G	c.(457-459)caA>caG	p.Q153Q	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Silent_p.Q153Q|ANGPTL1_uc010pnc.1_Silent_p.Q75Q	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	153						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TGTTTTCCAGTTGGGAAAGTT	0.388													11	26					0	0	1	0	0	C	178834453	T	C	178834453	2	2	70	1	0	0	0	0	0	0	0	1	613	1722	60	3		3	ANGPTL1	1	178834453	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		178834453	70416168	1	1273											
KCTD3	51133	broad.mit.edu	37	chr1	215792548	215792548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattactcgatcaatgtgatTtgagcacatctcgctgtgct	8	9	2	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr1:215792548T>C	uc001hks.3	+	16	2095	c.1801T>C	c.(1801-1803)Ttg>Ctg	p.L601L	KCTD3_uc001hkt.3_Silent_p.L599L|KCTD3_uc010pub.2_Silent_p.L499L|KCTD3_uc009xdn.3_Silent_p.L325L	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	601						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCAATGTGATTTGAGCACATC	0.393													18	88					0	0	1	0	0	C	215792548	T	C	215792548	2	2	70	1	0	0	0	0	0	0	0	1	8110	1838	64	3		3	KCTD3	1	215792548	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08	36958095	215792548	33458073	2	1274											
SENP7	57337	broad.mit.edu	37	chr3	101090962	101090962	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctactgtcttacttcgtTgtgagcccctgcaaaagaga	8	11	2	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr3:101090962T>G	uc003dut.3	-	6	797	c.686A>C	c.(685-687)cAa>cCa	p.Q229P	SENP7_uc003duu.3_Missense_Mutation_p.Q164P|SENP7_uc003duv.3_Missense_Mutation_p.Q196P|SENP7_uc003duw.3_Missense_Mutation_p.Q163P|SENP7_uc003dux.3_Missense_Mutation_p.Q65P	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	229					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTACTTCGTTGTGAGCCCCT	0.348													3	88					0	0	1	0	0	G	101090962	T	G	101090962	3	3	70	1	0	0	0	0	1	0	0	0	14051	1812	63	5	2538	5	SENP7	3	101090962	Missense_Mutation	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		101090962	96931468	3	1275											
KIAA0141	9812	broad.mit.edu	37	chr5	141307808	141307808	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgggtagaacactgctcCtggcacagtcccctggaccg	12	15	0	1			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr5:141307808C>A	uc003lls.3	+	3	479	c.357C>A	c.(355-357)tcC>tcA	p.S119S	KIAA0141_uc003llt.3_Silent_p.S119S	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	119					apoptosis|regulation of caspase activity	mitochondrion	protein binding	p.C118*(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACTGCTCCTGGCACAGTC	0.627													6	58					0	0	1	0	0	A	141307808	C	A	141307808	2	1	70	1	0	0	0	0	0	0	0	1	8156	668	24	4		4	KIAA0141	5	141307808	Silent	SNP	C	TCGA-DJ-A1QF-01A-12D-A14W-08		141307808	39607452	4	1276											
STC2	8614	broad.mit.edu	37	chr5	172755126	172755126	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgggttggtggcgtcggtcCcccgcgccgggtcaaaggtg	19	11	1	0			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr5:172755126C>G	uc003mco.1	-	0	1381	c.71G>C	c.(70-72)gGg>gCg	p.G24A	STC2_uc003mcn.1_5'Flank	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	24					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGTCGGTCCCCCGCGCCGG	0.637													22	101					0	0	1	0	0	G	172755126	C	G	172755126	3	3	70	1	0	0	0	0	1	0	0	0	15275	623	22	4	853	4	STC2	5	172755126	Missense_Mutation	SNP	C	TCGA-DJ-A1QF-01A-12D-A14W-08	31447318	172755126	8160134	5	1277											
SRPK2	6733	broad.mit.edu	37	chr7	104782687	104782687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcataggagctgctataTgtgtaatcactttctgcatt	8	7	3	0			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr7:104782687T>C	uc003vcv.3	-	10	1399	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	SRPK2_uc003vct.3_Silent_p.T426T|SRPK2_uc003vcu.3_Silent_p.T426T|SRPK2_uc003vcw.1_Silent_p.T426T	NM_182692	NP_872634	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 1, mRNA.	426	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AGCTGCTATATGTGTAATCAC	0.428													8	139					0	0	1	0	0	C	104782687	T	C	104782687	2	2	70	1	0	0	0	0	0	0	0	1	15159	1451	51	3		3	SRPK2	7	104782687	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		104782687	54355976	6	1278											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	45					0	0	1	0	0	T	140453136	A	T	140453136	3	4	70	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QF-01A-12D-A14W-08	35670449	140453136	18685527	7	1279											
IFIT1B	439996	broad.mit.edu	37	chr10	91144286	91144286	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacccattatttaaaaggtTtgaaaatagaaaaaatgtcc	5	5	0	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr10:91144286T>C	uc001kgh.3	+	1	1296	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	406							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TTTAAAAGGTTTGAAAATAGA	0.363													36	66					0	0	1	0	0	C	91144286	T	C	91144286	2	2	70	1	0	0	0	0	0	0	0	1	7522	1838	64	3		3	IFIT1B	10	91144286	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		91144286	44390461	8	1280											
SLCO1A2	6579	broad.mit.edu	37	chr12	21467494	21467494	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtacttactggttcatgagGaaatgaggtagtgattttaa	11	3	1	3			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr12:21467494G>C	uc001res.3	-	4	1045	c.324C>G	c.(322-324)ttC>ttG	p.F108L	SLCO1A2_uc010siq.2_Intron|SLCO1A2_uc010sio.2_Intron|SLCO1A2_uc001rer.3_Missense_Mutation_p.F108L|SLCO1A2_uc010sip.2_Intron|SLCO1A2_uc001ret.3_Missense_Mutation_p.F106L|SLCO1A2_uc001reu.2_Missense_Mutation_p.F88L	NM_134431	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 1, mRNA.	108					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GGTTCATGAGGAAATGAGGTA	0.398													3	85					0	0	1	0	0	C	21467494	G	C	21467494	3	2	70	1	0	0	0	0	1	0	0	0	14722	1165	41	4	1736	4	SLCO1A2	12	21467494	Missense_Mutation	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		21467494	112384401	9	1281											
SMG1	23049	broad.mit.edu	37	chr16	18860687	18860687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtttaagcgtgagaaaagTtgcggaataattccttcagg	12	5	1	1			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr16:18860687T>C	uc002dfm.3	-	35	5838	c.5475A>G	c.(5473-5475)caA>caG	p.Q1825Q	SMG1_uc010bwb.3_Silent_p.Q1685Q|SMG1_uc010bwa.3_Silent_p.Q556Q|SMG1_uc021ted.1_Silent_p.Q123Q	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1825	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTGAGAAAAGTTGCGGAATAA	0.388													7	70					0	0	1	0	0	C	18860687	T	C	18860687	2	2	70	1	0	0	0	0	0	0	0	1	14795	1722	60	3		3	SMG1	16	18860687	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		18860687	71494066	10	1282											
PKD1L2	114780	broad.mit.edu	37	chr16	81157274	81157274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagagcgctggtctctaGcgtcagcgtgacaatgcaga	12	12	2	3			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr16:81157274G>A	uc002fgh.1	-	38	6460	c.6460C>T	c.(6460-6462)Cta>Tta	p.L2154L	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2156					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGTCTCTAGCGTCAGCGTG	0.597													4	94					0	0	1	0	0	A	81157274	G	A	81157274	2	1	70	1	0	0	0	0	0	0	0	1	11965	962	34	2		2	PKD1L2	16	81157274	Silent	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08	62296587	81157274	9197479	11	1283											
WDR45L	56270	broad.mit.edu	37	chr17	80579584	80579584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgggtggcttctccgtGctggccaggtccacaagctg	13	14	1	0			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr17:80579584G>A	uc002kfq.3	-	5	714	c.519C>T	c.(517-519)agC>agT	p.S173S	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	173					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			GCTTCTCCGTGCTGGCCAGGT	0.582													7	35					0	0	1	0	0	A	80579584	G	A	80579584	2	1	70	1	0	0	0	0	0	0	0	1	17295	1310	46	2		2	WDR45L	17	80579584	Silent	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		80579584	615626	12	1284											
GALNT1	2589	broad.mit.edu	37	chr18	33271056	33271056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaagctacaccttacacGtttccaggaggcacagggca	11	12	0	0			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr18:33271056G>A	uc010dmu.3	+	7	1112	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	GALNT1_uc002kyz.4_Silent_p.T293T|GALNT1_uc002kzb.3_Silent_p.T353T	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	353					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T353T(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CACCTTACACGTTTCCAGGAG	0.403													9	158					0	0	1	0	0	A	33271056	G	A	33271056	2	1	70	1	0	0	0	0	0	0	0	1	6207	1132	40	1		1	GALNT1	18	33271056	Silent	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		33271056	44806192	13	1285											
MUC16	94025	broad.mit.edu	37	chr19	9074483	9074483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacagtgcttgtctctgtAgcagagctggccacctggga	13	10	1	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr19:9074483A>G	uc002mkp.3	-	2	13167	c.12963T>C	c.(12961-12963)gcT>gcC	p.A4321A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4323	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTCTGTAGCAGAGCTGG	0.502													14	20					0	0	1	0	0	G	9074483	A	G	9074483	2	3	70	1	0	0	0	0	0	0	0	1	9973	407	15	3		3	MUC16	19	9074483	Silent	SNP	A	TCGA-DJ-A1QF-01A-12D-A14W-08		9074483	50054500	14	1286											
AFF2	2334	broad.mit.edu	37	chrX	148044403	148044403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatgactggacaaatcaCatctaccaaacctaagagaa	6	12	2	2			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chrX:148044403C>T	uc004fcp.3	+	12	3328	c.2849C>T	c.(2848-2850)aCa>aTa	p.T950I	AFF2_uc004fcq.3_Missense_Mutation_p.T940I|AFF2_uc004fcr.3_Missense_Mutation_p.T911I|AFF2_uc011mxb.2_Missense_Mutation_p.T915I|AFF2_uc004fcs.3_Missense_Mutation_p.T917I|AFF2_uc011mxc.2_Missense_Mutation_p.T591I	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	950					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGACAAATCACATCTACCAAA	0.433													6	52					0	0	1	0	0	T	148044403	C	T	148044403	3	4	70	1	0	0	0	0	1	0	0	0	357	478	17	2	2954	2	AFF2	23	148044403	Missense_Mutation	SNP	C	TCGA-DJ-A1QF-01A-12D-A14W-08		148044403	7226157	15	1287											
PPCS	79717	broad.mit.edu	37	chr1	42925432	42925432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcaagtggtggtggcTaatatccttgagtcacgaca	11	9	2	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:42925432T>C	uc001chl.3	+	2	835	c.771T>C	c.(769-771)gcT>gcC	p.A257A	PPCS_uc001chk.3_Silent_p.A84A	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.	257					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGTGGTGGCTAATATCCTTG	0.398													3	137					0	0	1	0	0	C	42925432	T	C	42925432	2	2	71	1	0	0	0	0	0	0	0	1	12305	1509	53	3		3	PPCS	1	42925432	Silent	SNP	T	TCGA-DJ-A1QG-01A-11D-A14W-08		42925432	206325189	1	1288											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			55	106					0	0	1	0	0	C	115256529	T	C	115256529	3	2	71	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A1QG-01A-11D-A14W-08	72331097	115256529	133994092	2	1289											
ITGA10	8515	broad.mit.edu	37	chr1	145534935	145534935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccctcagctactttggccGaagtgtggatggtcggctag	14	10	1	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:145534935G>A	uc001eoa.3	+	14	1914	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	ITGA10_uc010oyv.2_Missense_Mutation_p.R482Q|ITGA10_uc009wiw.3_Missense_Mutation_p.R470Q|ITGA10_uc010oyw.2_Missense_Mutation_p.R558Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	613					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R613Q(2)|p.G612S(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTTTGGCCGAAGTGTGGAT	0.577													33	73					0	0	1	0	0	A	145534935	G	A	145534935	3	1	71	1	0	0	0	0	1	0	0	0	7873	1058	37	1	1896	1	ITGA10	1	145534935	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	30278406	145534935	103715686	3	1290											
FLG2	388698	broad.mit.edu	37	chr1	152328852	152328852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcttacctgagctagaCccatgctggtcatagcccaa	9	12	2	2			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:152328852C>T	uc001ezw.4	-	2	1483	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	470	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCTAGACCCATGCTGGT	0.522													6	145					0	0	1	0	0	T	152328852	C	T	152328852	2	4	71	1	0	0	0	0	0	0	0	1	5923	494	18	2		2	FLG2	1	152328852	Silent	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	6793917	152328852	96921769	4	1291											
C1orf112	55732	broad.mit.edu	37	chr1	169811624	169811624	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctttggatacaggaaaaCaaactgcaattatcgaagtt	8	6	0	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:169811624C>T	uc001ggp.3	+	18	2102	c.1792C>T	c.(1792-1794)Caa>Taa	p.Q598*	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggq.3_Nonsense_Mutation_p.Q598*|C1orf112_uc009wvt.3_Nonsense_Mutation_p.Q275*|C1orf112_uc009wvu.1_Nonsense_Mutation_p.Q474*|C1orf112_uc001ggr.3_Nonsense_Mutation_p.Q463*|C1orf112_uc010plv.2_Nonsense_Mutation_p.Q540*	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	598										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACAGGAAAACAAACTGCAAT	0.368													26	59					0	0	1	0	0	T	169811624	C	T	169811624	4	4	71	1	0	0	0	0	0	1	0	0	1985	479	17	2	1854	2	C1orf112	1	169811624	Nonsense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	17482772	169811624	79438997	5	1292											
OR6F1	343169	broad.mit.edu	37	chr1	247875916	247875916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgggaggtgctcaccaAcatcaagatagccacattac	9	11	2	2			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:247875916A>G	uc001idj.1	-	0	142	c.142T>C	c.(142-144)Ttg>Ctg	p.L48L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTGCTCACCAACATCAAGATA	0.473													9	113					0	0	1	0	0	G	247875916	A	G	247875916	2	3	71	1	0	0	0	0	0	0	0	1	11201	40	2	3		3	OR6F1	1	247875916	Silent	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08	78064292	247875916	1374705	6	1293											
PLCD4	84812	broad.mit.edu	37	chr2	219501103	219501103	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtacaccctgccttggaccTgcatgcaacaaggtgagcca	10	13	0	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr2:219501103T>A	uc021vwx.1	+	14	2509	c.2170T>A	c.(2170-2172)Tgc>Agc	p.C724S		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	724					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCTTGGACCTGCATGCAACA	0.552													4	267					0	0	1	0	0	A	219501103	T	A	219501103	3	1	71	1	0	0	0	0	1	0	0	0	12033	1580	55	5	2224	5	PLCD4	2	219501103	Missense_Mutation	SNP	T	TCGA-DJ-A1QG-01A-11D-A14W-08		219501103	23698270	7	1294											
DMP1	1758	broad.mit.edu	37	chr4	88584444	88584444	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaacccattggggaccaagAtgacaatgactgccaagacg	10	11	0	4			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr4:88584444A>T	uc003hqv.3	+	5	1618	c.1514A>T	c.(1513-1515)gAt>gTt	p.D505V	DMP1_uc003hqw.3_Missense_Mutation_p.D489V	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	505					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGGGACCAAGATGACAATGAC	0.413													56	88					0	0	1	0	0	T	88584444	A	T	88584444	3	4	71	1	0	0	0	0	1	0	0	0	4583	333	12	5	1532	5	DMP1	4	88584444	Missense_Mutation	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08		88584444	102569832	8	1295											
HIST1H4J	8363	broad.mit.edu	37	chr6	27791912	27791912	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctcgtcatgtctggcCgcggcaaaggcgggaagggt	16	10	3	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:27791912C>G	uc003njp.3	+	0	10	c.10C>G	c.(10-12)Cgc>Ggc	p.R4G	FKSG63_uc003njq.2_5'Flank	NM_021968	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4j (HIST1H4J), mRNA.	4					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(1)|pancreas(1)	4						CATGTCTGGCCGCGGCAAAGG	0.612													10	24					0	0	1	0	0	G	27791912	C	G	27791912	3	3	71	1	0	0	0	0	1	0	0	0	7174	652	23	4	12	4	HIST1H4J	6	27791912	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		27791912	143323155	9	1296											
C6orf211	79624	broad.mit.edu	37	chr6	151779565	151779565	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccttggttgagaaatttgttGatactgatatatggaatcag	10	4	1	3			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:151779565G>C	uc003qok.1	+	2	509	c.250G>C	c.(250-252)Gat>Cat	p.D84H	C6orf211_uc011ees.1_5'UTR	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	84							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GAAATTTGTTGATACTGATAT	0.363													29	50					0	0	1	0	0	C	151779565	G	C	151779565	3	2	71	1	0	0	0	0	1	0	0	0	2354	1290	45	4	260	4	C6orf211	6	151779565	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	123987653	151779565	19335502	10	1297											
THBS2	7058	broad.mit.edu	37	chr6	169637364	169637364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgcagagacggatgcGtgtgatattgccaactccac	13	9	0	2			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:169637364G>A	uc003qwt.3	-	9	1626	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	460	TSP type-1 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGACGGATGCGTGTGATATTG	0.607													23	25					0	0	1	0	0	A	169637364	G	A	169637364	3	1	71	1	0	0	0	0	1	0	0	0	15851	1145	40	1	2196	1	THBS2	6	169637364	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	17857799	169637364	1477703	11	1298											
TMEM38B	55151	broad.mit.edu	37	chr9	108483839	108483839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatattacatttttttgcccGcatgacctagtttcccaggg	7	10	0	1	rs141978983		TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr9:108483839G>A	uc004bcu.1	+	2	408	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	97						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTTTTGCCCGCATGACCTAG	0.353													3	38					0	0	1	0	0	A	108483839	G	A	108483839	2	1	71	1	0	0	0	0	0	0	0	1	16157	1074	38	1		1	TMEM38B	9	108483839	Silent	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08		108483839	32729592	12	1299											
MS4A12	54860	broad.mit.edu	37	chr11	60274284	60274284	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccacagcccattttgcCaaccaagcaaacaccacaac	5	16	0	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr11:60274284C>G	uc001npr.3	+	5	729	c.672C>G	c.(670-672)gcC>gcG	p.A224A	MS4A12_uc021qkb.1_Silent_p.A178A	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	224						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CCCATTTTGCCAACCAAGCAA	0.418													11	39					0	0	1	0	0	G	60274284	C	G	60274284	2	3	71	1	0	0	0	0	0	0	0	1	9856	581	21	4		4	MS4A12	11	60274284	Silent	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		60274284	74732232	13	1300											
HTR3A	3359	broad.mit.edu	37	chr11	113853948	113853948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactgcctgtagcctcgacAtctacaacttccccttcgat	6	15	1	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr11:113853948A>G	uc010rxb.2	+	4	732	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	HTR3A_uc010rxa.2_Missense_Mutation_p.I167V|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.I146V	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	161					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TAGCCTCGACATCTACAACTT	0.547													9	142					0	0	1	0	0	G	113853948	A	G	113853948	3	3	71	1	0	0	0	0	1	0	0	0	7444	217	8	3	543	3	HTR3A	11	113853948	Missense_Mutation	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08	53579664	113853948	21152568	14	1301											
INHBC	3626	broad.mit.edu	37	chr12	57843479	57843479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgactgccaaggagggtccAggatgtgctgtcgacaagag	15	9	0	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr12:57843479A>G	uc001snv.1	+	1	860	c.733A>G	c.(733-735)Agg>Ggg	p.R245G		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	245					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						AGGAGGGTCCAGGATGTGCTG	0.577													19	48					0	0	1	0	0	G	57843479	A	G	57843479	3	3	71	1	0	0	0	0	1	0	0	0	7743	179	7	3	739	3	INHBC	12	57843479	Missense_Mutation	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08		57843479	76008416	15	1302											
MBD6	114785	broad.mit.edu	37	chr12	57919484	57919484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccctctgacctgggctctCctccggcccctcatgcctcc	8	21	3	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr12:57919484C>T	uc001soj.1	+	5	957	c.733C>T	c.(733-735)Cct>Tct	p.P245S	MBD6_uc001sok.1_Missense_Mutation_p.P112S|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	245	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGGCTCTCCTCCGGCCCC	0.612													4	226					0	0	1	0	0	T	57919484	C	T	57919484	3	4	71	1	0	0	0	0	1	0	0	0	9348	855	30	2	747	2	MBD6	12	57919484	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	76005	57919484	75932411	16	1303											
C16orf91	283951	broad.mit.edu	37	chr16	1470345	1470345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctcaaccactggtccgCctcgctctcctccctcaggt	7	19	3	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:1470345C>T	uc010uvd.2	-	3	772	c.772G>A	c.(772-774)Gcg>Acg	p.A258T	C16orf91_uc002clr.3_Missense_Mutation_p.A101T	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	101						integral to membrane		p.E257K(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CACTGGTCCGCCTCGCTCTCC	0.617													41	73					0	0	1	0	0	T	1470345	C	T	1470345	3	4	71	1	0	0	0	0	1	0	0	0	1844	739	26	2	304	2	C16orf91	16	1470345	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		1470345	88884408	17	1304											
NOMO1	23420	broad.mit.edu	37	chr16	14958553	14958553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcctttgtacagttcttgGcatcagtttctgggaaagtc	11	8	3	0			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:14958553G>T	uc002dcv.3	+	12	1573	c.1507G>T	c.(1507-1509)Gca>Tca	p.A503S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	503						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ACAGTTCTTGGCATCAGTTTC	0.468													63	151					0	0	1	0	0	T	14958553	G	T	14958553	3	4	71	1	0	0	0	0	1	0	0	0	10531	1203	42	4	1557	4	NOMO1	16	14958553	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	13488208	14958553	75396200	18	1305											
CDH11	1009	broad.mit.edu	37	chr16	65016141	65016141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attgctgataaacttcgggtCgatgtgcacgttggctgcct	12	9	0	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:65016141C>A	uc002eoi.3	-	7	1497	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Missense_Mutation_p.D355Y|CDH11_uc010vin.2_Missense_Mutation_p.D229Y|CDH11_uc002eok.1_Non-coding_Transcript	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	355	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			29	47					0	0	1	0	0	A	65016141	C	A	65016141	3	1	71	1	0	0	0	0	1	0	0	0	3097	884	31	4	1351	4	CDH11	16	65016141	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	50057588	65016141	25338612	19	1306											
TMEM101	84336	broad.mit.edu	37	chr17	42090386	42090386	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccccaacataccacacagatGaggtagatacccaggaacac	7	14	0	3			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr17:42090386G>T	uc002ieu.3	-	2	481	c.456C>A	c.(454-456)ctC>ctA	p.L152L	TMEM101_uc010wis.2_Silent_p.L94L	NM_032376	NP_115752	Q96IK0	TM101_HUMAN	Homo sapiens transmembrane protein 101 (TMEM101), mRNA.	152					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACACAGATGAGGTAGATAC	0.597													3	29					0	0	1	0	0	T	42090386	G	T	42090386	2	4	71	1	0	0	0	0	0	0	0	1	16013	1277	45	4		4	TMEM101	17	42090386	Silent	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08		42090386	39104824	20	1307											
PTPN2	5771	broad.mit.edu	37	chr18	12817199	12817199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggtgccagagcgccCaatgcctgcactacagtgga	13	11	0	2			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr18:12817199C>A	uc002krp.3	-	5	855	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	PTPN2_uc002krn.3_Missense_Mutation_p.G244W|PTPN2_uc002krl.3_Missense_Mutation_p.G221W|PTPN2_uc002krm.3_Missense_Mutation_p.G221W	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	221	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	p.G221G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CCAGAGCGCCCAATGCCTGCA	0.423													4	115					0	0	1	0	0	A	12817199	C	A	12817199	3	1	71	1	0	0	0	0	1	0	0	0	12785	594	21	4	628	4	PTPN2	18	12817199	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		12817199	65260049	21	1308											
ICAM3	3385	broad.mit.edu	37	chr19	10449575	10449575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaccctccagcagagagCacagggttctggggctccac	14	13	1	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr19:10449575C>T	uc002mob.2	-	1	181	c.126G>A	c.(124-126)gtG>gtA	p.V42V	ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_Intron	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	42					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CAGCAGAGAGCACAGGGTTCT	0.552													22	37					0	0	1	0	0	T	10449575	C	T	10449575	2	4	71	1	0	0	0	0	0	0	0	1	7481	697	25	2		2	ICAM3	19	10449575	Silent	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		10449575	48679408	22	1309											
CHEK2	11200	broad.mit.edu	37	chr22	29091784	29091784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaacaagaacttcaggcgcCaagtaggtgggggttccaca	13	9	1	1			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr22:29091784C>A	uc003adt.1	-	11	1374	c.1302G>T	c.(1300-1302)ttG>ttT	p.L434F	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.L170F|CHEK2_uc010gvh.1_Missense_Mutation_p.L300F|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adu.1_Missense_Mutation_p.L391F|CHEK2_uc003adv.1_Missense_Mutation_p.L362F|CHEK2_uc003adx.1_Missense_Mutation_p.L170F	NM_001005735	NP_001005735	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.	391	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTTCAGGCGCCAAGTAGGTGG	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					26	14					0	0	1	0	0	A	29091784	C	A	29091784	3	1	71	1	0	0	0	0	1	0	0	0	3335	593	21	4	478	4	CHEK2	22	29091784	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		29091784	22212782	23	1310											
S1PR1	1901	broad.mit.edu	37	chr1	101705451	101705451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgttagctgtgctcaactCcggcaccaaccccatcattt	8	14	2	0			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr1:101705451C>T	uc001dud.2	+	1	1425	c.911C>T	c.(910-912)tCc>tTc	p.S304F	S1PR1_uc009weg.2_Missense_Mutation_p.S304F|S1PR1_uc021oqt.1_Missense_Mutation_p.S304F	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	304					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GTGCTCAACTCCGGCACCAAC	0.567													126	205					0	0	1	0	0	T	101705451	C	T	101705451	3	4	72	1	0	0	0	0	1	0	0	0	13793	855	30	2	913	2	S1PR1	1	101705451	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		101705451	147545170	1	1311											
HLA-DOA	3111	broad.mit.edu	37	chr6	32974902	32974902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatgatgatgaggacggtgCccacgaggaagcccaccagg	14	12	0	3			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:32974902C>A	uc003ocr.3	-	3	780	c.704G>T	c.(703-705)gGc>gTc	p.G235V	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	235					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GAGGACGGTGCCCACGAGGAA	0.627													4	77					0	0	1	0	0	A	32974902	C	A	32974902	3	1	72	1	0	0	0	0	1	0	0	0	7200	739	26	4	56	4	HLA-DOA	6	32974902	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		32974902	138140165	2	1312											
VEGFA	7422	broad.mit.edu	37	chr6	43742103	43742103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgcacccatggcagAaggaggagggcagaatcatc	14	11	1	2			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:43742103A>G	uc003owh.3	+	1	1130	c.632A>G	c.(631-633)gAa>gGa	p.E211G	VEGFA_uc003owb.3_Missense_Mutation_p.E31G|VEGFA_uc003owd.3_Missense_Mutation_p.E211G|VEGFA_uc010jyx.3_Missense_Mutation_p.E211G|VEGFA_uc003owf.3_Missense_Mutation_p.E211G|VEGFA_uc003owg.3_Missense_Mutation_p.E211G|VEGFA_uc003owe.3_Missense_Mutation_p.E211G|VEGFA_uc021yzu.1_Missense_Mutation_p.E210G|VEGFA_uc003owj.3_Missense_Mutation_p.E211G|VEGFA_uc003owi.3_Missense_Mutation_p.E211G	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	31					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	p.A210A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CCCATGGCAGAAGGAGGAGGG	0.617											OREG0017458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	36					0	0	1	0	0	G	43742103	A	G	43742103	3	3	72	1	0	0	0	0	1	0	0	0	17147	246	9	3	638	3	VEGFA	6	43742103	Missense_Mutation	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	10767201	43742103	127372964	3	1313											
SIM1	6492	broad.mit.edu	37	chr6	100838751	100838751	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgttttttcccagccccaTtaatggaagccagttggtct	9	10	1	0			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:100838751T>A	uc003pqj.4	-	10	2254	c.1787A>T	c.(1786-1788)aAt>aTt	p.N596I	SIM1_uc021zdg.1_Missense_Mutation_p.N596I|SIM1_uc010kcu.3_Missense_Mutation_p.N596I	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	596	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCCAGCCCCATTAATGGAAGC	0.458													26	32					0	0	1	0	0	A	100838751	T	A	100838751	3	1	72	1	0	0	0	0	1	0	0	0	14323	1493	52	5	517	5	SIM1	6	100838751	Missense_Mutation	SNP	T	TCGA-DJ-A1QH-01A-21D-A14W-08	57096648	100838751	70276316	4	1314											
FLNC	2318	broad.mit.edu	37	chr7	128478773	128478773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctgcacatacagacctGccatggaggggccacatacc	10	15	0	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:128478773G>A	uc003vnz.4	+	7	1536	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	FLNC_uc003voa.4_Missense_Mutation_p.A443T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	443					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATACAGACCTGCCATGGAGGG	0.632													38	90					0	0	1	0	0	A	128478773	G	A	128478773	3	1	72	1	0	0	0	0	1	0	0	0	5935	1319	46	2	1357	2	FLNC	7	128478773	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		128478773	30659890	5	1315											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	36					0	0	1	0	0	T	140453136	A	T	140453136	3	4	72	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	11974363	140453136	18685527	6	1316											
TRIM32	22954	broad.mit.edu	37	chr9	119460294	119460294	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcattgatacagctgggctCagcgaggctgtggggctgct	15	9	2	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr9:119460294C>T	uc004bjw.2	+	1	434	c.273C>T	c.(271-273)ctC>ctT	p.L91L	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjx.2_Silent_p.L91L|TRIM32_uc022bmo.1_Silent_p.L91L	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	91					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CAGCTGGGCTCAGCGAGGCTG	0.582													31	38					0	0	1	0	0	T	119460294	C	T	119460294	2	4	72	1	0	0	0	0	0	0	0	1	16503	813	29	2		2	TRIM32	9	119460294	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		119460294	21753137	7	1317											
OPN4	94233	broad.mit.edu	37	chr10	88419674	88419674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagaccttcggggccTgcaagggcaatggcgagtcc	13	14	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:88419674T>C	uc010qmk.1	+	6	1083	c.856T>C	c.(856-858)Tgc>Cgc	p.C286R	OPN4_uc001kdp.3_Missense_Mutation_p.C286R|OPN4_uc001kdq.3_Missense_Mutation_p.C275R|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	275					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTTCGGGGCCTGCAAGGGCAA	0.637													3	51					0	0	1	0	0	C	88419674	T	C	88419674	3	2	72	1	0	0	0	0	1	0	0	0	10882	1580	55	3	882	3	OPN4	10	88419674	Missense_Mutation	SNP	T	TCGA-DJ-A1QH-01A-21D-A14W-08		88419674	47115073	8	1318											
GBF1	8729	broad.mit.edu	37	chr10	104119094	104119094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaagtgttagaggagtGcacgtcccctgccgaccact	11	14	0	2			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:104119094G>A	uc001kux.2	+	10	1373	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	GBF1_uc001kuw.3_3'UTR|GBF1_uc001kuy.2_Missense_Mutation_p.C360Y|GBF1_uc001kuz.2_Missense_Mutation_p.C361Y	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	360					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTAGAGGAGTGCACGTCCCCT	0.552													19	37					0	0	1	0	0	A	104119094	G	A	104119094	3	1	72	1	0	0	0	0	1	0	0	0	6271	1319	46	2	1117	2	GBF1	10	104119094	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08	15699420	104119094	31415653	9	1319											
OR5B3	441608	broad.mit.edu	37	chr11	58170795	58170795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgataatatagatgaaggGgaacgttataaagaggggaa	14	1	0	4			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:58170795G>A	uc010rkf.2	-	0	88	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	30			P -> L (in dbSNP:rs17152661).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGATGAAGGGGAACGTTATA	0.398													5	126					0	0	1	0	0	A	58170795	G	A	58170795	3	1	72	1	0	0	0	0	1	0	0	0	11152	1232	43	2	858	2	OR5B3	11	58170795	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		58170795	76835721	10	1320											
TYR	7299	broad.mit.edu	37	chr11	88911586	88911586	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcatccccatagggacCtatggccaaatgaaaaatgg	9	9	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:88911586C>A	uc001pcs.3	+	0	547	c.465C>A	c.(463-465)acC>acA	p.T155T		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	155			T -> S (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.G154W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCATAGGGACCTATGGCCAAA	0.413													49	74					0	0	1	0	0	A	88911586	C	A	88911586	2	1	72	1	0	0	0	0	0	0	0	1	16810	668	24	4		4	TYR	11	88911586	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08	30740791	88911586	46094930	11	1321											
ATN1	1822	broad.mit.edu	37	chr12	7045484	7045484	+	Frame_Shift_Del	DEL	C	C	-													gcccagagaagggcccaactCtggctccttcaccccactct							TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:7045484delC	uc001qrw.1	+	4	1291	c.1054delC	c.(1054-1056)ctgfs	p.L352fs	ATN1_uc001qrx.1_Frame_Shift_Del_p.L352fs|ATN1_uc001qry.1_Frame_Shift_Del_p.L351fs	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	352					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L352V(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCCCAACTCTGGCTCCTTC	0.612													61	122	---	---	---	---						-	7045484	C	-	7045484	7	5	72	1	0	1	0	1	0	0	0	0	1111	912	32	0	1068	0	ATN1	12	7045484	Frame_Shift_Del	DEL	C	TCGA-DJ-A1QH-01A-21D-A14W-08		7045484	126806411	12	1322											
PZP	5858	broad.mit.edu	37	chr12	9352975	9352975	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcactctccacagactgttAtgttcactttttcatccatg	4	13	4	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:9352975A>C	uc001qvl.3	-	6	769	c.740T>G	c.(739-741)aTa>aGa	p.I247R	PZP_uc009zgl.3_Missense_Mutation_p.I116R	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGACTGTTATGTTCACTTT	0.313													7	16					0	0	1	0	0	C	9352975	A	C	9352975	3	2	72	1	0	0	0	0	1	0	0	0	12869	449	16	5	3828	5	PZP	12	9352975	Missense_Mutation	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	2307491	9352975	124498920	13	1323											
SNRNP35	11066	broad.mit.edu	37	chr12	123950629	123950629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctatagagagggaaaacGggaaaggcgggagcgatctc	15	8	2	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:123950629G>A	uc021rfv.1	+	1	607	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	SNRNP35_uc001ufb.1_Missense_Mutation_p.R181Q|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Missense_Mutation_p.R181Q	NM_180699	NP_073208	Q16560	U1SBP_HUMAN	Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.	181	Arg-rich.				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAGGGAAAACGGGAAAGGCGG	0.527													6	56					0	0	1	0	0	A	123950629	G	A	123950629	3	1	72	1	0	0	0	0	1	0	0	0	14855	1116	39	1	563	1	SNRNP35	12	123950629	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08	114597654	123950629	9901266	14	1324											
MTHFD1	4522	broad.mit.edu	37	chr14	64908830	64908830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcgcacatggcaattcctCcatcattgcagaccggatcg	8	14	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr14:64908830C>T	uc010aqf.3	+	19	2330	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	MTHFD1_uc001xhb.3_Missense_Mutation_p.S648F	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	648	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	p.L704L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGCAATTCCTCCATCATTGCA	0.498													4	46					0	0	1	0	0	T	64908830	C	T	64908830	3	4	72	1	0	0	0	0	1	0	0	0	9927	855	30	2	2021	2	MTHFD1	14	64908830	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		64908830	42440710	15	1325											
MAPKBP1	23005	broad.mit.edu	37	chr15	42115281	42115281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcctctggcaaccccagCccccagcaggcagcctctgt	9	20	2	0			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr15:42115281C>T	uc001zok.4	+	28	3763	c.3477C>T	c.(3475-3477)agC>agT	p.S1159S	MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Silent_p.S992S|MAPKBP1_uc001zoj.4_Silent_p.S1153S|MAPKBP1_uc010bcj.3_Silent_p.S660S|MAPKBP1_uc010bck.3_Silent_p.S370S|MAPKBP1_uc010bcl.3_Silent_p.S660S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1159										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAACCCCAGCCCCCAGCAGG	0.657													22	28					0	0	1	0	0	T	42115281	C	T	42115281	2	4	72	1	0	0	0	0	0	0	0	1	9292	738	26	2		2	MAPKBP1	15	42115281	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		42115281	60416111	16	1326											
YBX2	51087	broad.mit.edu	37	chr17	7193773	7193773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgggggatgaatcggcGggacttacgtcggttggggg	21	7	0	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:7193773G>A	uc002gfq.2	-	4	598	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	181					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						ATGAATCGGCGGGACTTACGT	0.647													3	55					0	0	1	0	0	A	7193773	G	A	7193773	3	1	72	1	0	0	0	0	1	0	0	0	17467	1116	39	1	569	1	YBX2	17	7193773	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		7193773	74001437	17	1327											
STXBP4	252983	broad.mit.edu	37	chr17	53063607	53063607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatacatctactgtagtAtcacccagtctacttgaaaa	4	9	3	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:53063607A>G	uc002iuf.1	+	2	234	c.27A>G	c.(25-27)gtA>gtG	p.V9V	STXBP4_uc010dcc.1_5'UTR|STXBP4_uc010dcd.1_Silent_p.V9V	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	9						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTACTGTAGTATCACCCAGTC	0.259													24	35					0	0	1	0	0	G	53063607	A	G	53063607	2	3	72	1	0	0	0	0	0	0	0	1	15354	436	16	3		3	STXBP4	17	53063607	Silent	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	45869834	53063607	28131603	18	1328											
MYOM1	8736	broad.mit.edu	37	chr18	3102502	3102502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttcgacttccaatcgtGgagagtcctcagtggataca	10	10	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr18:3102502G>A	uc002klp.3	-	22	3879	c.3545C>T	c.(3544-3546)cCa>cTa	p.P1182L	MYOM1_uc002klq.3_Missense_Mutation_p.P1086L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1182	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCCAATCGTGGAGAGTCCTC	0.433													25	110					0	0	1	0	0	A	3102502	G	A	3102502	3	1	72	1	0	0	0	0	1	0	0	0	10091	1348	47	2	1576	2	MYOM1	18	3102502	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		3102502	74974746	19	1329											
TMPRSS15	5651	broad.mit.edu	37	chr21	19770630	19770630	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcgctctggcttcatgactCtgtccaagtgctgcacctag	10	13	3	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr21:19770630C>T	uc002ykw.3	-	1	193	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	54	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTTCATGACTCTGTCCAAGTG	0.343													4	67					0	0	1	0	0	T	19770630	C	T	19770630	2	4	72	1	0	0	0	0	0	0	0	1	16243	912	32	2		2	TMPRSS15	21	19770630	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		19770630	28359265	20	1330											
PPEF1	5475	broad.mit.edu	37	chrX	18748426	18748426	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaacaaggccaaatgcaGgtctgttttgcaagcttttc	10	8	1	1			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:18748426G>T	uc004cyq.3	+	5	655	c.174_splice	c.e5+1	p.Q58_splice	PPEF1_uc004cyp.3_Splice_Site_p.Q58_splice|PPEF1_uc004cyr.3_Splice_Site_p.Q58_splice|PPEF1_uc004cys.3_Splice_Site_p.Q58_splice|PPEF1_uc011mja.2_Intron|PPEF1_uc011mjb.2_Splice_Site_p.Q2_splice	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	58					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GCCAAATGCAGGTCTGTTTTG	0.423													73	110					0	0	1	0	0	T	18748426	G	T	18748426	5	4	72	1	0	0	0	0	0	0	1	0	12307	1014	35	4	180	4	PPEF1	23	18748426	Splice_Site	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		18748426	136522134	21	1331											
GLRA4	441509	broad.mit.edu	37	chrX	102977177	102977177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacttggacagcaggagcAtcttccagccactcaaacac	8	15	2	0			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:102977177A>G	uc011mse.2	-	5	1042	c.621T>C	c.(619-621)gaT>gaC	p.D207D	GLRA4_uc010nou.2_Silent_p.D207D	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	207						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGCAGGAGCATCTTCCAGCC	0.537													9	208					0	0	1	0	0	G	102977177	A	G	102977177	2	3	72	1	0	0	0	0	0	0	0	1	6457	214	8	3		3	GLRA4	23	102977177	Silent	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	84228751	102977177	52293383	22	1332											
IFI44	10561	broad.mit.edu	37	chr1	79116042	79116042	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcctactctaacagtgatTtatagtgaagatcatattat	8	6	2	3			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr1:79116042T>A	uc001dip.4	+	1	286	c.162T>A	c.(160-162)atT>atA	p.I54I	IFI44_uc010orr.1_Silent_p.I54I|IFI44_uc010ors.1_Intron	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	54					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TAACAGTGATTTATAGTGAAG	0.393													4	153					0	0	1	0	0	A	79116042	T	A	79116042	2	1	73	1	0	0	0	0	0	0	0	1	7517	1829	64	5		5	IFI44	1	79116042	Silent	SNP	T	TCGA-DJ-A1QI-01A-11D-A14W-08		79116042	170134579	1	1333											
HEATR1	55127	broad.mit.edu	37	chr1	236734652	236734652	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatatcattaacgcttaccGgaaatattccagcaacagtg	6	9	1	0			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr1:236734652G>A	uc001hyd.2	-	28	4100	c.3948_splice	c.e28+1	p.P1316_splice	HEATR1_uc009xgh.2_Splice_Site_p.P478_splice	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1316					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACGCTTACCGGAAATATTCC	0.403													3	53					0	0	1	0	0	A	236734652	G	A	236734652	5	1	73	1	0	0	0	0	0	0	1	0	7027	1130	39	1	2559	1	HEATR1	1	236734652	Splice_Site	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08	157618610	236734652	12515969	2	1334											
ANKAR	150709	broad.mit.edu	37	chr2	190595298	190595298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtacttatccaactaCtaagaaatcacccttctcct	2	14	2	1			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr2:190595298C>G	uc002uqw.2	+	15	3359	c.3271C>G	c.(3271-3273)Cta>Gta	p.L1091V	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Intron|ANKAR_uc002uqy.2_Missense_Mutation_p.L187V	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1091						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TATCCAACTACTAAGAAATCA	0.338													14	27					0	0	1	0	0	G	190595298	C	G	190595298	3	3	73	1	0	0	0	0	1	0	0	0	623	564	20	4	3329	4	ANKAR	2	190595298	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		190595298	52604075	3	1335											
STXBP5L	9515	broad.mit.edu	37	chr3	121097680	121097680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggaagaccaccatttcGaaaggcccagtcagcagcct	9	14	1	1			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr3:121097680G>A	uc003eec.4	+	21	2506	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	STXBP5L_uc011bji.2_Missense_Mutation_p.R765Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	789					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.R789*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCACCATTTCGAAAGGCCCAG	0.398													17	31					0	0	1	0	0	A	121097680	G	A	121097680	3	1	73	1	0	0	0	0	1	0	0	0	15356	1058	37	1	2448	1	STXBP5L	3	121097680	Missense_Mutation	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08		121097680	76924750	4	1336											
OR2H2	7932	broad.mit.edu	37	chr6	29556434	29556434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggaaagcttttgggaCctgctcctcccatctcactg	11	13	1	0			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr6:29556434C>T	uc003nmr.1	+	0	752	c.713C>T	c.(712-714)aCc>aTc	p.T238I	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	238					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G237V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTTTTGGGACCTGCTCCTCC	0.532													10	68					0	0	1	0	0	T	29556434	C	T	29556434	3	4	73	1	0	0	0	0	1	0	0	0	11002	507	18	2	715	2	OR2H2	6	29556434	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		29556434	141558633	5	1337											
SP4	6671	broad.mit.edu	37	chr7	21469100	21469100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacgcttggcaacttgttgCctccactcctcctgcttcaa	6	15	1	0			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr7:21469100C>T	uc003sva.3	+	2	498	c.317C>T	c.(316-318)gCc>gTc	p.A106V	SP4_uc003svb.3_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	106					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.A106V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAACTTGTTGCCTCCACTCCT	0.438													20	32					0	0	1	0	0	T	21469100	C	T	21469100	3	4	73	1	0	0	0	0	1	0	0	0	14966	739	26	2	327	2	SP4	7	21469100	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		21469100	137669563	6	1338											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	51					0	0	1	0	0	T	140453136	A	T	140453136	3	4	73	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QI-01A-11D-A14W-08	118984036	140453136	18685527	7	1339											
BHLHE22	27319	broad.mit.edu	37	chr8	65493711	65493711	+	Frame_Shift_Del	DEL	G	G	-													gcctaagcagcctgccggccGgggccgccctttgcctcaag							TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr8:65493711delG	uc003xvi.3	+	0	917	c.364delG	c.(364-366)gggfs	p.G122fs	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	122	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCTGCCGGCCGGGGCCGCCCT	0.751													2	4	---	---	---	---						-	65493711	G	-	65493711	7	5	73	1	0	1	0	1	0	0	0	0	1421	1116	39	0	366	0	BHLHE22	8	65493711	Frame_Shift_Del	DEL	G	TCGA-DJ-A1QI-01A-11D-A14W-08		65493711	80870311	8	1340											
C10orf53	282966	broad.mit.edu	37	chr10	50902594	50902594	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttccctaggaggcgatggTaaactagacccactgtgtga	12	9	0	2			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr10:50902594T>C	uc001jib.3	+	2	288	c.228T>C	c.(226-228)ggT>ggC	p.G76G	C10orf53_uc001jic.1_3'UTR|C10orf53_uc001jid.1_Intron	NM_001042427	NP_001035892	Q8N6V4	CJ053_HUMAN	Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 2, mRNA.	76								p.T76T(2)		endometrium(1)|lung(6)	7		all_neural(218;0.107)				GAGGCGATGGTAAACTAGACC	0.458													4	45					0	0	1	0	0	C	50902594	T	C	50902594	2	2	73	1	0	0	0	0	0	0	0	1	1606	1625	57	3		3	C10orf53	10	50902594	Silent	SNP	T	TCGA-DJ-A1QI-01A-11D-A14W-08		50902594	84632153	9	1341											
PCCA	5095	broad.mit.edu	37	chr13	100807310	100807310	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctacctcaacatggatgcCatcatggaagccattaagaa	8	10	2	1			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr13:100807310C>G	uc001voo.3	+	4	484	c.378C>G	c.(376-378)gcC>gcG	p.A126A	PCCA_uc010aga.3_Silent_p.A100A|PCCA_uc010tiz.2_Silent_p.A126A	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	126	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ACATGGATGCCATCATGGAAG	0.458													7	113					0	0	1	0	0	G	100807310	C	G	100807310	2	3	73	1	0	0	0	0	0	0	0	1	11504	581	21	4		4	PCCA	13	100807310	Silent	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		100807310	14362568	10	1342											
FGF7	2252	broad.mit.edu	37	chr15	49776583	49776583	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatatgcatcagctaaatGgacacacaacggaggggaaa	10	9	1	0			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr15:49776583G>A	uc001zxn.3	+	3	996	c.467G>A	c.(466-468)tGg>tAg	p.W156*	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	156					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	TCAGCTAAATGGACACACAAC	0.348													3	66					0	0	1	0	0	A	49776583	G	A	49776583	4	1	73	1	0	0	0	0	0	1	0	0	5857	1357	47	2	477	2	FGF7	15	49776583	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08		49776583	52754809	11	1343											
IGF1R	3480	broad.mit.edu	37	chr15	99440012	99440012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatcccttgtgaaggtcCttgcccgaaggtctgtgagg	13	11	1	2			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr15:99440012C>A	uc002bul.3	+	3	1030	c.980C>A	c.(979-981)cCt>cAt	p.P327H	IGF1R_uc010urq.2_Missense_Mutation_p.P327H|IGF1R_uc010bon.3_Missense_Mutation_p.P327H|IGF1R_uc021sxi.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	327					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TGTGAAGGTCCTTGCCCGAAG	0.393													3	40					0	0	1	0	0	A	99440012	C	A	99440012	3	1	73	1	0	0	0	0	1	0	0	0	7571	681	24	4	994	4	IGF1R	15	99440012	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08	49663429	99440012	3091380	12	1344											
GLG1	2734	broad.mit.edu	37	chr16	74640592	74640592	+	Frame_Shift_Del	DEL	T	T	-													ggcactcgagcaccgccaggTtgttgctccaggtgtgctta							TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr16:74640592delT	uc002fcx.3	-	0	451	c.401delA	c.(400-402)aacfs	p.N134fs	GLG1_uc002fcw.4_Frame_Shift_Del_p.N134fs|GLG1_uc002fcy.4_Frame_Shift_Del_p.N134fs|GLG1_uc002fcz.4_5'UTR	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	134						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACCGCCAGGTTGTTGCTCCA	0.706													24	49	---	---	---	---						-	74640592	T	-	74640592	7	5	73	1	0	1	0	1	0	0	0	0	6436	1725	60	0	3322	0	GLG1	16	74640592	Frame_Shift_Del	DEL	T	TCGA-DJ-A1QI-01A-11D-A14W-08		74640592	15714161	13	1345											
BTBD17	388419	broad.mit.edu	37	chr17	72352829	72352829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggataagggtgtggtatacGggcttgacgatgaggtgcag	18	5	0	2			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr17:72352829G>A	uc002jkn.2	-	2	1404	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	468						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						TGTGGTATACGGGCTTGACGA	0.652													3	38					0	0	1	0	0	A	72352829	G	A	72352829	2	1	73	1	0	0	0	0	0	0	0	1	1542	1103	39	1		1	BTBD17	17	72352829	Silent	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08		72352829	8842381	14	1346											
SPANXN1	494118	broad.mit.edu	37	chrX	144329165	144329165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcccctgtgaatccaAcaatgaaaatgatgaggtaa	10	7	0	5			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chrX:144329165A>G	uc004fcb.2	+	0	59	c.59A>G	c.(58-60)aAc>aGc	p.N20S		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.	20								p.S19F(1)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGAATCCAACAATGAAAAT	0.448													4	188					0	0	1	0	0	G	144329165	A	G	144329165	3	3	73	1	0	0	0	0	1	0	0	0	14990	43	2	3	61	3	SPANXN1	23	144329165	Missense_Mutation	SNP	A	TCGA-DJ-A1QI-01A-11D-A14W-08		144329165	10941395	15	1347											
PPFIA4	8497	broad.mit.edu	37	chr1	203013072	203013072	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagctgcttctggaacAtctggagtgcctggtgtccc	12	13	2	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr1:203013072A>T	uc009xaj.3	+	7	791	c.791A>T	c.(790-792)cAt>cTt	p.H264L	PPFIA4_uc010pqf.2_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	119					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTTCTGGAACATCTGGAGTGC	0.637													12	22					0	0	1	0	0	T	203013072	A	T	203013072	3	4	74	1	0	0	0	0	1	0	0	0	12312	232	8	5		5	PPFIA4	1	203013072	Missense_Mutation	SNP	A	TCGA-DJ-A1QL-01A-11D-A14W-08		203013072	46237549	1	1348											
NFE2L2	4780	broad.mit.edu	37	chr2	178098702	178098702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttccttaaacctgccAtaactttcccaagaactgag	6	11	0	2			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr2:178098702A>G	uc010frb.3	-	1	785	c.295T>C	c.(295-297)Tgg>Cgg	p.W99R	NFE2L2_uc002ulg.4_Intron|NFE2L2_uc010zfa.2_Intron|NFE2L2_uc002ulh.4_Intron|NFE2L2_uc002uli.4_Intron|NFE2L2_uc010fra.3_Intron			Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 3, mRNA.	0			S -> P (in dbSNP:rs5031039).		transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TAAACCTGCCATAACTTTCCC	0.423			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			17	17					0	0	1	0	0	G	178098702	A	G	178098702	3	3	74	1	0	0	0	0	1	0	0	0	10368	232	8	3		3	NFE2L2	2	178098702	Missense_Mutation	SNP	A	TCGA-DJ-A1QL-01A-11D-A14W-08		178098702	65100671	2	1349											
EDEM1	9695	broad.mit.edu	37	chr3	5255103	5255103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcatcttcgggaattgCcatggaaggaattcttctct	10	8	3	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:5255103C>T	uc003bqi.3	+	10	1912	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S		NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	594					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCGGGAATTGCCATGGAAGGA	0.478													3	33					0	0	1	0	0	T	5255103	C	T	5255103	3	4	74	1	0	0	0	0	1	0	0	0	4911	739	26	2	1822	2	EDEM1	3	5255103	Missense_Mutation	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		5255103	192767327	3	1350											
RAD54L2	23132	broad.mit.edu	37	chr3	51675796	51675796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccaccttggctctcatcgagGaattccttggaaaacgagaa	9	11	1	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:51675796G>C	uc011bdt.2	+	13	2388	c.2263G>C	c.(2263-2265)Gaa>Caa	p.E755Q	RAD54L2_uc003dbh.3_Missense_Mutation_p.E346Q|RAD54L2_uc011bdu.2_Missense_Mutation_p.E449Q|RAD54L2_uc003dbj.3_Missense_Mutation_p.E81Q	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	755	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCTCATCGAGGAATTCCTTGG	0.483													2	8					0	0	1	0	0	C	51675796	G	C	51675796	3	2	74	1	0	0	0	0	1	0	0	0	12994	1175	41	4	2313	4	RAD54L2	3	51675796	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	46420693	51675796	146346634	4	1351											
SIDT1	54847	broad.mit.edu	37	chr3	113300224	113300224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcccggtgtatgatcTcgaccacaatgtggaattta	11	9	1	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:113300224T>G	uc021xcn.1	+	5	1331	c.680T>G	c.(679-681)cTc>cGc	p.L227R	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.L227R|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	227						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GTGTATGATCTCGACCACAAT	0.458													30	42					0	0	1	0	0	G	113300224	T	G	113300224	3	3	74	1	0	0	0	0	1	0	0	0	14302	1551	54	5	702	5	SIDT1	3	113300224	Missense_Mutation	SNP	T	TCGA-DJ-A1QL-01A-11D-A14W-08	61624428	113300224	84722206	5	1352											
SLITRK3	22865	broad.mit.edu	37	chr3	164906912	164906912	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactgtttaaaggggaccagGtcacaggtgcagtcccaagg	13	10	1	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:164906912G>C	uc003fej.4	-	1	2151	c.1707C>G	c.(1705-1707)gaC>gaG	p.D569E	SLITRK3_uc003fek.3_Missense_Mutation_p.D569E|SLITRK3_uc021xgy.1_Missense_Mutation_p.D569E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	569	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGGGGACCAGGTCACAGGTGC	0.517										HNSCC(40;0.11)			19	33					0	0	1	0	0	C	164906912	G	C	164906912	3	2	74	1	0	0	0	0	1	0	0	0	14744	1252	44	4	1230	4	SLITRK3	3	164906912	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	51606688	164906912	33115518	6	1353											
C4orf21	55345	broad.mit.edu	37	chr4	113508691	113508691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcatcccagaaacagcCtcagcaaagaagccatcagt	7	12	2	2			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr4:113508691C>T	uc003iau.3	-	11	3733	c.3522G>A	c.(3520-3522)gaG>gaA	p.E1174E	C4orf21_uc003iav.3_Non-coding_Transcript	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAGAAACAGCCTCAGCAAAGA	0.413													77	145					0	0	1	0	0	T	113508691	C	T	113508691	2	4	74	1	0	0	0	0	0	0	0	1	2254	680	24	2		2	C4orf21	4	113508691	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		113508691	77645585	7	1354											
PCDHGC5	56097	broad.mit.edu	37	chr5	140857072	140857072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcaatcttcctacgaCgtttacattgaagaaaacaa	4	10	3	2			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr5:140857072C>T	uc003lkv.2	+	0	1504	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Silent_p.D463D|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	460	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTACGACGTTTACATTG	0.512													5	158					0	0	1	0	0	T	140857072	C	T	140857072	2	4	74	1	0	0	0	0	0	0	0	1	11571	535	19	1		1	PCDHGC5	5	140857072	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		140857072	40058188	8	1355											
ATP10B	23120	broad.mit.edu	37	chr5	160047602	160047602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcaccagggcggcctcaTcagggctctcagcctcgtaa	12	15	3	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr5:160047602T>C	uc003lym.1	-	14	3015	c.2168A>G	c.(2167-2169)gAt>gGt	p.D723G	ATP10B_uc010jit.1_Missense_Mutation_p.D40G|ATP10B_uc003lyn.3_Missense_Mutation_p.D281G	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	723					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCGGCCTCATCAGGGCTCTC	0.642													6	39					0	0	1	0	0	C	160047602	T	C	160047602	3	2	74	1	0	0	0	0	1	0	0	0	1117	1435	50	3	2265	3	ATP10B	5	160047602	Missense_Mutation	SNP	T	TCGA-DJ-A1QL-01A-11D-A14W-08	19190530	160047602	20867658	9	1356											
WRN	7486	broad.mit.edu	37	chr8	31004953	31004953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttcccccagctattcTggcaacaaacaagatactgg	9	11	1	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr8:31004953T>C	uc003xio.4	+	29	4321	c.3533T>C	c.(3532-3534)cTg>cCg	p.L1178P	WRN_uc010lvk.3_Missense_Mutation_p.L645P	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1178	HRDC.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CCAGCTATTCTGGCAACAAAC	0.343			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				21	32					0	0	1	0	0	C	31004953	T	C	31004953	3	2	74	1	0	0	0	0	1	0	0	0	17399	1580	55	3	3647	3	WRN	8	31004953	Missense_Mutation	SNP	T	TCGA-DJ-A1QL-01A-11D-A14W-08		31004953	115359069	10	1357											
C9orf72	203228	broad.mit.edu	37	chr9	27567087	27567087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatctctgtcttggcaacaGctggagatggcggtgggcaa	14	9	2	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr9:27567087G>A	uc003zqq.2	-	1	129	c.32C>T	c.(31-33)gCt>gTt	p.A11V	C9orf72_uc022bfa.1_Missense_Mutation_p.A11V|C9orf72_uc003zqr.1_Missense_Mutation_p.A11V	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA.	11										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		CTTGGCAACAGCTGGAGATGG	0.423													22	30					0	0	1	0	0	A	27567087	G	A	27567087	3	1	74	1	0	0	0	0	1	0	0	0	2495	971	34	2	1457	2	C9orf72	9	27567087	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		27567087	113646344	11	1358											
TAF1L	138474	broad.mit.edu	37	chr9	32631455	32631455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagtggttccaactcgccGtttcttctttggaggaagct	10	10	2	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr9:32631455G>A	uc003zrg.1	-	0	4213	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1375					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAACTCGCCGTTTCTTCTTT	0.458													87	141					0	0	1	0	0	A	32631455	G	A	32631455	3	1	74	1	0	0	0	0	1	0	0	0	15520	1144	40	1	1361	1	TAF1L	9	32631455	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	5064368	32631455	108581976	12	1359											
ECD	11319	broad.mit.edu	37	chr10	74896602	74896602	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgtgtttcaaagtccaAgtcatcatcactatctaaac	5	10	5	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr10:74896602A>T	uc009xqx.3	-	13	1906	c.1663T>A	c.(1663-1665)Ttg>Atg	p.L555M	ECD_uc001jtn.3_Missense_Mutation_p.L522M|ECD_uc009xqy.3_Missense_Mutation_p.L479M|ECD_uc001jto.3_Missense_Mutation_p.L221M	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	522					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCAAAGTCCAAGTCATCATCA	0.443													5	165					0	0	1	0	0	T	74896602	A	T	74896602	3	4	74	1	0	0	0	0	1	0	0	0	4888	69	3	5	378	5	ECD	10	74896602	Missense_Mutation	SNP	A	TCGA-DJ-A1QL-01A-11D-A14W-08		74896602	60638145	13	1360											
GALNTL4	374378	broad.mit.edu	37	chr11	11400737	11400737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcctgcttgctgtgacGcacgactttgatgaagcctg	11	12	0	3			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr11:11400737G>T	uc001mjo.2	-	3	1091	c.670C>A	c.(670-672)Cgt>Agt	p.R224S		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	224	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		TTGCTGTGACGCACGACTTTG	0.567													18	39					0	0	1	0	0	T	11400737	G	T	11400737	3	4	74	1	0	0	0	0	1	0	0	0	6223	1087	38	4	1185	4	GALNTL4	11	11400737	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		11400737	123605779	14	1361											
SLC22A11	55867	broad.mit.edu	37	chr11	64326627	64326627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggacctggtgtgcagctcCcagggcttgaagcccctaag	14	12	0	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr11:64326627C>T	uc001oai.3	+	1	788	c.414C>T	c.(412-414)tcC>tcT	p.S138S	SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Silent_p.S138S|SLC22A11_uc001oak.1_5'Flank	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	138					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGTGCAGCTCCCAGGGCTTGA	0.637													33	60					0	0	1	0	0	T	64326627	C	T	64326627	2	4	74	1	0	0	0	0	0	0	0	1	14442	610	22	2		2	SLC22A11	11	64326627	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08	52925890	64326627	70679889	15	1362											
USP28	57646	broad.mit.edu	37	chr11	113705033	113705033	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataactgagaacaagtcttcGaaattcaggcaattgaaaga	8	6	2	3			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr11:113705033G>A	uc001poh.3	-	5	592	c.559C>T	c.(559-561)Cga>Tga	p.R187*	USP28_uc010rwy.2_Nonsense_Mutation_p.R62*|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.R187*|USP28_uc010rwz.1_Nonsense_Mutation_p.R187*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	187					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R187*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAAGTCTTCGAAATTCAGGC	0.343													16	35					0	0	1	0	0	A	113705033	G	A	113705033	4	1	74	1	0	0	0	0	0	1	0	0	17055	1066	37	1	2754	1	USP28	11	113705033	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	49378406	113705033	21301483	16	1363											
HS3ST4	9951	broad.mit.edu	37	chr16	26147154	26147154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctggccttcaaaaaccGgaccctcgggctgatcgatg	13	12	1	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr16:26147154G>A	uc002dof.3	+	1	1348	c.956G>A	c.(955-957)cGg>cAg	p.R319Q		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	319					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TTCAAAAACCGGACCCTCGGG	0.552													81	105					0	0	1	0	0	A	26147154	G	A	26147154	3	1	74	1	0	0	0	0	1	0	0	0	7367	1116	39	1	962	1	HS3ST4	16	26147154	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		26147154	64207599	17	1364											
PPM1D	8493	broad.mit.edu	37	chr17	58740528	58740549	+	Frame_Shift_Del	DEL	GCGCTAAAGCCCTGACTTTAAG	GCGCTAAAGCCCTGACTTTAAG	-													agaaccacttgaagaaaattGcgctaaagccctgactttaa					rs142406693	by1000genomes	TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr17:58740528_58740549delGCGCTAAAGCCCTGACTTTAAG	uc002iyt.2	+	5	1665_1686	c.1433_1454delGCGCTAAAGCCCTGACTTTAAG	c.(1432-1455)tgcgctaaagccctgactttaaggfs	p.C478fs	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	478					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.A481V(2)|p.C478C(2)|p.C478*(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GAAGAAAATTGCGCTAAAGCCCTGACTTTAAGGATACATGAT	0.387											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	5	114	---	---	---	---						-	58740549	GCGCTAAAGCCCTGACTTTAAG	-	58740528	7	5	74	1	0	1	0	1	0	0	0	0	12337	1319	46	0	1455	0	PPM1D	17	58740528	Frame_Shift_Del	DEL	GCGCTAAAGCCCTGACTTTAAG	TCGA-DJ-A1QL-01A-11D-A14W-08		58740528	22454682	18	1365											
MUC16	94025	broad.mit.edu	37	chr19	9070335	9070335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggcttctgtgtgcgcaGtgtctttgtaagtggtcagt	14	7	3	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr19:9070335G>A	uc002mkp.3	-	2	17315	c.17111C>T	c.(17110-17112)aCt>aTt	p.T5704I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5706	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTGCGCAGTGTCTTTGTA	0.502													6	70					0	0	1	0	0	A	9070335	G	A	9070335	3	1	74	1	0	0	0	0	1	0	0	0	9973	1029	36	2	26740	2	MUC16	19	9070335	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		9070335	50058648	19	1366											
PYGB	5834	broad.mit.edu	37	chr20	25257360	25257360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccatgcggctgtggtccGccaaggctcccaacgacttc	10	16	0	0			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr20:25257360G>A	uc002wup.3	+	5	848	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	247					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCTGTGGTCCGCCAAGGCTCC	0.617													3	32					0	0	1	0	0	A	25257360	G	A	25257360	3	1	74	1	0	0	0	0	1	0	0	0	12860	1087	38	1	761	1	PYGB	20	25257360	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		25257360	37768160	20	1367											
SEMG2	6407	broad.mit.edu	37	chr20	43836652	43836652	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtaaagtacaaacctcactCtgtcctgcgcaccaagacaa	6	13	2	1			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr20:43836652C>T	uc002xni.2	+	1	771	c.714C>T	c.(712-714)ctC>ctT	p.L238L	SEMG2_uc002xnj.2_Silent_p.L238L|SEMG2_uc010ggz.3_Intron	NM_003007	NP_002998	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin I (SEMG1), mRNA.	238	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACCTCACTCTGTCCTGCGC	0.378													6	131					0	0	1	0	0	T	43836652	C	T	43836652	2	4	74	1	0	0	0	0	0	0	0	1	14045	900	32	2		2	SEMG2	20	43836652	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08	18579292	43836652	19188868	21	1368											
WDTC1	23038	broad.mit.edu	37	chr1	27620562	27620562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcacaccttctgtgacCggcagaaaccccttccggac	10	15	1	2			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr1:27620562C>T	uc009vst.2	+	7	1247	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	WDTC1_uc001bno.3_Missense_Mutation_p.R238W|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	238							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTTCTGTGACCGGCAGAAACC	0.547													5	62					0	0	1	0	0	T	27620562	C	T	27620562	3	4	75	1	0	0	0	0	1	0	0	0	17339	643	23	1	738	1	WDTC1	1	27620562	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		27620562	221630059	1	1369											
SLC25A12	8604	broad.mit.edu	37	chr2	172641902	172641902	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaacgtggctgtggcgagtCtgtatccaccgatgtgatca	12	10	2	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr2:172641902C>T	uc002uhh.2	-	17	2008	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	SLC25A12_uc010fqh.2_Missense_Mutation_p.R533K	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	640					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGTGGCGAGTCTGTATCCACC	0.488													7	93					0	0	1	0	0	T	172641902	C	T	172641902	3	4	75	1	0	0	0	0	1	0	0	0	14474	913	32	2	121	2	SLC25A12	2	172641902	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		172641902	70557471	2	1370											
STAB1	23166	broad.mit.edu	37	chr3	52539151	52539151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccctctgggacccctgggGatcccaaggtgagccagcat	12	16	1	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr3:52539151G>A	uc003dej.3	+	12	1584	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	STAB1_uc003dei.1_Missense_Mutation_p.D504N	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	504					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GACCCCTGGGGATCCCAAGGT	0.612													7	82					0	0	1	0	0	A	52539151	G	A	52539151	3	1	75	1	0	0	0	0	1	0	0	0	15236	1174	41	2	1560	2	STAB1	3	52539151	Missense_Mutation	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		52539151	145483279	3	1371											
PDE12	201626	broad.mit.edu	37	chr3	57543396	57543396	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgcaggagaaggtgctccaGagatcttctgttcttcaggt	13	9	4	2	rs140975906	by1000genomes	TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr3:57543396G>A	uc003diw.4	+	0	1416	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	PDE12_uc003div.3_Silent_p.Q430Q	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	430							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGCTCCAGAGATCTTCTG	0.498													4	52					0	0	1	0	0	A	57543396	G	A	57543396	2	1	75	1	0	0	0	0	0	0	0	1	11632	933	33	2		2	PDE12	3	57543396	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08	5004245	57543396	140479034	4	1372											
ODZ2	57451	broad.mit.edu	37	chr5	167182184	167182184	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttctccatgggaaggttgtGatggagtctctgggtaagga	15	5	2	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr5:167182184G>A	uc003lzr.4	+	0	187	c.126G>A	c.(124-126)gtG>gtA	p.V42V	ODZ2_uc021yhi.1_Intron|ODZ2_uc010jjd.3_Intron|ODZ2_uc003lzq.2_Silent_p.V42V	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GGAAGGTTGTGATGGAGTCTC	0.483													5	258					0	0	1	0	0	A	167182184	G	A	167182184	2	1	75	1	0	0	0	0	0	0	0	1	10835	1305	45	2		2	ODZ2	5	167182184	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		167182184	13733076	5	1373											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	76					0	0	1	0	0	T	140453136	A	T	140453136	3	4	75	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QM-01A-11D-A14W-08		140453136	18685527	6	1374											
SORBS3	10174	broad.mit.edu	37	chr8	22428458	22428458	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgatccgcaaggtgaacgaGaactggtacgagggacgcat	14	9	0	3			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr8:22428458G>C	uc003xbv.3	+	17	1807	c.1467G>C	c.(1465-1467)gaG>gaC	p.E489D	SORBS3_uc003xbw.4_Missense_Mutation_p.E147D	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	489	Binds to vinculin.|SH3 2.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGTGAACGAGAACTGGTACG	0.627													8	55					0	0	1	0	0	C	22428458	G	C	22428458	3	2	75	1	0	0	0	0	1	0	0	0	14929	933	33	4	1533	4	SORBS3	8	22428458	Missense_Mutation	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		22428458	123935564	7	1375											
ZFAT	57623	broad.mit.edu	37	chr8	135649756	135649756	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgataatgcagatgtgcttCcgcagctggcgcgtgttgga	14	9	0	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr8:135649756C>T	uc003yup.3	-	2	582	c.396G>A	c.(394-396)cgG>cgA	p.R132R	ZFAT_uc003yun.3_Silent_p.R120R|ZFAT_uc003yuo.3_Silent_p.R120R|ZFAT_uc010meh.3_Silent_p.R120R|ZFAT_uc010mej.3_Silent_p.R132R|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.R120R|ZFAT_uc003yur.3_Silent_p.R120R	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGATGTGCTTCCGCAGCTGGC	0.542													4	50					0	0	1	0	0	T	135649756	C	T	135649756	2	4	75	1	0	0	0	0	0	0	0	1	17629	842	30	2		2	ZFAT	8	135649756	Silent	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08	113221298	135649756	10714266	8	1376											
PCSK7	9159	broad.mit.edu	37	chr11	117090319	117090319	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatctcacccgggtggctgtGaagacaatgatgtgctggac	13	9	1	3			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr11:117090319G>A	uc001pqr.3	-	9	1512	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	437	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGTGGCTGTGAAGACAATGA	0.592			T	IGH@	MLCLS								3	28					0	0	1	0	0	A	117090319	G	A	117090319	2	1	75	1	0	0	0	0	0	0	0	1	11605	1281	45	2		2	PCSK7	11	117090319	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		117090319	17916197	9	1377											
ABCA3	21	broad.mit.edu	37	chr16	2373655	2373655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgggtccacatgtaatttCtccgtgtgtaactgaaccgt	9	9	1	1			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr16:2373655C>T	uc002cpy.1	-	6	1194	c.482G>A	c.(481-483)aGa>aAa	p.R161K	ABCA3_uc010bsk.1_Missense_Mutation_p.R161K|ABCA3_uc010bsl.1_Missense_Mutation_p.R161K|ABCA3_uc002cpz.1_Missense_Mutation_p.R161K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	161					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R160W(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CATGTAATTTCTCCGTGTGTA	0.493													11	422					0	0	1	0	0	T	2373655	C	T	2373655	3	4	75	1	0	0	0	0	1	0	0	0	33	913	32	2	4740	2	ABCA3	16	2373655	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		2373655	87981098	10	1378											
CTPS2	56474	broad.mit.edu	37	chrX	16720901	16720901	+	Missense_Mutation	SNP	T	T	C													tgccagcatcgatgttaataTaggggtcgatttttatggca							TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chrX:16720901T>C	uc004cxk.3	-	1	869	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	CTPS2_uc004cxl.3_Missense_Mutation_p.Y42C|CTPS2_uc004cxm.3_Missense_Mutation_p.Y42C	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	42					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GATGTTAATATAGGGGTCGAT	0.448													6	74					0	0	1	0	0	C	16720901	T	C	16720901	3	2	75	1	0	0	0	0	1	0	0	0	4023	1406	49	3	1703	3	CTPS2	23	16720901	Missense_Mutation	SNP	T	TCGA-DJ-A1QM-01A-11D-A14W-08		16720901	138549659	11	1379	1	2									
CTPS2	56474	broad.mit.edu	37	chrX	16720909	16720909	+	Silent	SNP	G	G	A													tcgatgttaatataggggtcGatttttatggcagtaactcg							TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chrX:16720909G>A	uc004cxk.3	-	1	861	c.117C>T	c.(115-117)atC>atT	p.I39I	CTPS2_uc004cxl.3_Silent_p.I39I|CTPS2_uc004cxm.3_Silent_p.I39I	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	39					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATAGGGGTCGATTTTTATGG	0.458													5	71					0	0	1	0	0	A	16720909	G	A	16720909	2	1	75	1	0	0	0	0	0	0	0	1	4023	1048	37	1		1	CTPS2	23	16720909	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08	8	16720909	138549651	12	1380	1	2									
PREB	10113	broad.mit.edu	37	chr2	27357185	27357185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgcctgtcttggcggcGcctcctccgcccgcagcgat	11	16	1	0			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr2:27357185G>A	uc002rix.1	-	0	358	c.105C>T	c.(103-105)ggC>ggT	p.G35G	PREB_uc002riy.1_5'UTR	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	Homo sapiens prolactin regulatory element binding (PREB), mRNA.	35					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTGGCGGCGCCTCCTCCGC	0.711													3	15					0	0	1	0	0	A	27357185	G	A	27357185	2	1	76	1	0	0	0	0	0	0	0	1	12470	1074	38	1		1	PREB	2	27357185	Silent	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08		27357185	215842188	1	1381											
FGA	2243	broad.mit.edu	37	chr4	155505289	155505289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcctattgggtcacaAggggcctaattttcatgcga	10	10	3	0			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr4:155505289A>G	uc003iod.1	-	5	2646	c.2588T>C	c.(2587-2589)cTt>cCt	p.L863P		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	863	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGGGTCACAAGGGGCCTAAT	0.448													3	100					0	0	1	0	0	G	155505289	A	G	155505289	3	3	76	1	0	0	0	0	1	0	0	0	5830	72	3	3	16	3	FGA	4	155505289	Missense_Mutation	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08		155505289	35648987	2	1382											
HLA-E	3133	broad.mit.edu	37	chr6	30459066	30459066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacggagctcgtggagaccAggcctgcaggggatggaacc	16	11	0	1			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr6:30459066A>G	uc011dmh.2	+	2	913	c.886A>G	c.(886-888)Agg>Ggg	p.R296G	HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Missense_Mutation_p.R255G			P13747	HLAE_HUMAN	Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA.	255	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CGTGGAGACCAGGCCTGCAGG	0.632													3	89					0	0	1	0	0	G	30459066	A	G	30459066	3	3	76	1	0	0	0	0	1	0	0	0	7210	179	7	3	777	3	HLA-E	6	30459066	Missense_Mutation	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08		30459066	140656001	3	1383											
VPS52	6293	broad.mit.edu	37	chr6	33235075	33235075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatggtgttcctgctgcGgagcgatggctttgagaaga	15	6	0	2			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr6:33235075G>A	uc003odm.1	-	10	1225	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	VPS52_uc003odn.1_Intron	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	339					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTGCTGCGGAGCGATGGC	0.567													3	55					0	0	1	0	0	A	33235075	G	A	33235075	3	1	76	1	0	0	0	0	1	0	0	0	17211	1116	39	1	1196	1	VPS52	6	33235075	Missense_Mutation	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08	2776009	33235075	137879992	4	1384											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	52					0	0	1	0	0	T	140453136	A	T	140453136	3	4	76	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08		140453136	18685527	5	1385											
NDST2	8509	broad.mit.edu	37	chr10	75563477	75563477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggaaatcagtgctggcaTtggaaggaacagggaagaaa	14	4	1	1			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr10:75563477T>C	uc001jvk.2	-	10	2801	c.1997A>G	c.(1996-1998)aAt>aGt	p.N666S	NDST2_uc010qks.1_Missense_Mutation_p.N292S|NDST2_uc010qkt.1_Missense_Mutation_p.N543S|NDST2_uc001jvl.1_Missense_Mutation_p.N73S|NDST2_uc009xro.2_Missense_Mutation_p.N292S|NDST2_uc010qku.1_Missense_Mutation_p.N541S	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	666	Heparan sulfate N-sulfotransferase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGTGCTGGCATTGGAAGGAAC	0.493													45	162					0	0	1	0	0	C	75563477	T	C	75563477	3	2	76	1	0	0	0	0	1	0	0	0	10256	1493	52	3	674	3	NDST2	10	75563477	Missense_Mutation	SNP	T	TCGA-DJ-A1QN-01A-11D-A14W-08		75563477	59971270	6	1386											
SLC5A2	6524	broad.mit.edu	37	chr16	31499718	31499718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagacgaggtggcgtgcGtggtgcctgaggtgtgcagg	21	7	0	2			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr16:31499718G>A	uc002ecf.4	+	8	1055	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	346					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.V346M(2)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GGTGGCGTGCGTGGTGCCTGA	0.672													5	10					0	0	1	0	0	A	31499718	G	A	31499718	3	1	76	1	0	0	0	0	1	0	0	0	14665	1145	40	1	1070	1	SLC5A2	16	31499718	Missense_Mutation	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08		31499718	58855035	7	1387											
EVPL	2125	broad.mit.edu	37	chr17	74006561	74006561	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgactctctccctgcttGggcagggctctcggagccct	11	16	3	1			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr17:74006561G>A	uc010wss.1	-	21	3019	c.2791C>T	c.(2791-2793)Caa>Taa	p.Q931*	EVPL_uc002jqi.2_Nonsense_Mutation_p.Q909*|EVPL_uc010wst.1_Nonsense_Mutation_p.Q379*	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	909	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCCTGCTTGGGCAGGGCTC	0.637													5	26					0	0	1	0	0	A	74006561	G	A	74006561	4	1	76	1	0	0	0	0	0	1	0	0	5292	1357	47	2	3380	2	EVPL	17	74006561	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08		74006561	7188649	8	1388											
ZBTB40	9923	broad.mit.edu	37	chr1	22816958	22816958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagggggccctgtgaaaGctgagactgaggaagcagcc	15	11	0	3			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr1:22816958G>T	uc001bft.2	+	2	1028	c.517G>T	c.(517-519)Gct>Tct	p.A173S	ZBTB40_uc001bfu.2_Missense_Mutation_p.A173S|ZBTB40_uc009vqi.1_Missense_Mutation_p.A173S	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	173					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCCTGTGAAAGCTGAGACTGA	0.542													13	219					0	0	1	0	0	T	22816958	G	T	22816958	3	4	77	1	0	0	0	0	1	0	0	0	17539	971	34	4	519	4	ZBTB40	1	22816958	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08		22816958	226433663	1	1389											
KCMF1	56888	broad.mit.edu	37	chr2	85276643	85276643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaactggagaccgcacgCaacgcaacccggcgtactaa	9	15	0	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr2:85276643C>T	uc002sox.4	+	5	1100	c.756C>T	c.(754-756)cgC>cgT	p.R252R		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA.	252						intracellular	ligase activity|zinc ion binding			ovary(3)	3						AGACCGCACGCAACGCAACCC	0.537													8	40					0	0	1	0	0	T	85276643	C	T	85276643	2	4	77	1	0	0	0	0	0	0	0	1	8000	697	25	2		2	KCMF1	2	85276643	Silent	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		85276643	157922730	2	1390											
TTN	7273	broad.mit.edu	37	chr2	179580380	179580380	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgctctcttgaatttcagtCtcgtccttataccataaaac	4	12	3	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr2:179580380C>G	uc021vsy.1	-	85	22254	c.22029G>C	c.(22027-22029)gaG>gaC	p.E7343D	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4004D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8270	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATTTCAGTCTCGTCCTTAT	0.408													9	18					0	0	1	0	0	G	179580380	C	G	179580380	3	3	77	1	0	0	0	0	1	0	0	0	16732	912	32	4	78864	4	TTN	2	179580380	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	94303737	179580380	63618993	3	1391											
ZNF141	7700	broad.mit.edu	37	chr4	366799	366799	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctaactcaacataaggtAattcatgctggagagaaacc	7	10	2	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr4:366799A>G	uc003gaa.2	+	3	750	c.573A>G	c.(571-573)gtA>gtG	p.V191V	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	191					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AACATAAGGTAATTCATGCTG	0.343													18	71					0	0	1	0	0	G	366799	A	G	366799	2	3	77	1	0	0	0	0	0	0	0	1	17727	349	13	3		3	ZNF141	4	366799	Silent	SNP	A	TCGA-DJ-A1QO-01A-11D-A14W-08		366799	190787477	4	1392											
GPR98	84059	broad.mit.edu	37	chr5	90084066	90084066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagacattcattattaAacttcatcttgtgaaaggag	8	5	3	3			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr5:90084066A>G	uc003kju.3	+	67	13928	c.13832A>G	c.(13831-13833)aAa>aGa	p.K4611R	GPR98_uc003kjt.3_Missense_Mutation_p.K2317R|GPR98_uc003kjw.3_Missense_Mutation_p.K272R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4611	Calx-beta 31.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCATTATTAAACTTCATCTT	0.348													19	29					0	0	1	0	0	G	90084066	A	G	90084066	3	3	77	1	0	0	0	0	1	0	0	0	6721	14	1	3	14102	3	GPR98	5	90084066	Missense_Mutation	SNP	A	TCGA-DJ-A1QO-01A-11D-A14W-08		90084066	90831194	5	1393											
PCDHAC2	56134	broad.mit.edu	37	chr5	140222123	140222123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccttcaagaattactactCgttggtgctggacagcgccc	9	13	1	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr5:140222123C>T	uc003lhs.2	+	0	1217	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.S406L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	420	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTACTACTCGTTGGTGCTG	0.632													71	146					0	0	1	0	0	T	140222123	C	T	140222123	3	4	77	1	0	0	0	0	1	0	0	0	11533	893	31	1		1	PCDHAC2	5	140222123	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	50138057	140222123	40693137	6	1394											
TAAR5	9038	broad.mit.edu	37	chr6	132910122	132910122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccaggcttttgctcaatGtggtaatctgctgagcctgt	11	10	2	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:132910122G>A	uc003qdk.2	-	0	756	c.704C>T	c.(703-705)aCa>aTa	p.T235I		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	235					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TTTGCTCAATGTGGTAATCTG	0.502													18	29					0	0	1	0	0	A	132910122	G	A	132910122	3	1	77	1	0	0	0	0	1	0	0	0	15488	1377	48	2	313	2	TAAR5	6	132910122	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08		132910122	38204945	7	1395											
ARID1B	57492	broad.mit.edu	37	chr6	157521926	157521926	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgcagtacagcagccagCagcaggagatgtacaaccag	11	11	0	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:157521926C>T	uc003qqn.3	+	17	4318	c.4318C>T	c.(4318-4320)Cag>Tag	p.Q1440*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q1400*|ARID1B_uc003qqp.3_Nonsense_Mutation_p.Q1387*	NM_020732	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.	1387					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCAGCCAGCAGCAGGAGAT	0.592													26	44					0	0	1	0	0	T	157521926	C	T	157521926	4	4	77	1	0	0	0	0	0	1	0	0	914	711	25	2	4268	2	ARID1B	6	157521926	Nonsense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	24611804	157521926	13593141	8	1396											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	38					0	0	1	0	0	T	140453136	A	T	140453136	3	4	77	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QO-01A-11D-A14W-08		140453136	18685527	9	1397											
MYOM2	9172	broad.mit.edu	37	chr8	2027691	2027691	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccatttatcaggatgaccttGaaggtaagtagcacctcatc	8	10	2	2			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr8:2027691G>C	uc003wpx.4	+	12	1651	c.1513G>C	c.(1513-1515)Gaa>Caa	p.E505Q	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	505					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGATGACCTTGAAGGTAAGTA	0.512													6	230					0	0	1	0	0	C	2027691	G	C	2027691	3	2	77	1	0	0	0	0	1	0	0	0	10092	1291	45	4	1559	4	MYOM2	8	2027691	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08		2027691	144336331	10	1398											
DNTT	1791	broad.mit.edu	37	chr10	98087290	98087290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagaggccgtcagtgtgCtggttaaagaggctgtctgg	16	7	2	2			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr10:98087290C>T	uc001kmf.3	+	6	1110	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L	DNTT_uc001kmg.3_Silent_p.L314L	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	314	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CGTCAGTGTGCTGGTTAAAGA	0.522													4	209					0	0	1	0	0	T	98087290	C	T	98087290	2	4	77	1	0	0	0	0	0	0	0	1	4680	796	28	2		2	DNTT	10	98087290	Silent	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		98087290	37447457	11	1399											
CNGA4	1262	broad.mit.edu	37	chr11	6261928	6261928	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccgcaagctggagcggCgagttattgactggtgagaa	14	8	1	2			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:6261928C>T	uc001mco.3	+	3	1019	c.904C>T	c.(904-906)Cga>Tga	p.R302*	CNGA4_uc010raa.2_Nonsense_Mutation_p.R71*|CNGA4_uc001mcn.3_Nonsense_Mutation_p.R262*	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	302					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGAGCGGCGAGTTATTGA	0.542													14	40					0	0	1	0	0	T	6261928	C	T	6261928	4	4	77	1	0	0	0	0	0	1	0	0	3599	760	27	1	918	1	CNGA4	11	6261928	Nonsense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		6261928	128744588	12	1400											
HTATIP2	10553	broad.mit.edu	37	chr11	20404724	20404724	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggccatccatgacctgggGaaagcgcatggctctctcaa	11	12	2	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:20404724G>A	uc001mpx.2	+	5	873	c.804G>A	c.(802-804)ggG>ggA	p.G268G	HTATIP2_uc009yia.1_Silent_p.G234G|HTATIP2_uc009yib.1_Silent_p.G234G|HTATIP2_uc001mpz.2_Silent_p.G234G	NM_001098520	NP_006401	Q9BUP3	HTAI2_HUMAN	Homo sapiens HIV-1 Tat interactive protein 2, 30kDa (HTATIP2), transcript variant 1, mRNA.	234					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGACCTGGGGAAAGCGCATG	0.473													4	13					0	0	1	0	0	A	20404724	G	A	20404724	2	1	77	1	0	0	0	0	0	0	0	1	7432	1161	41	2		2	HTATIP2	11	20404724	Silent	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08	14142796	20404724	114601792	13	1401											
RBM4B	83759	broad.mit.edu	37	chr11	66436191	66436191	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgcggaagcctgagaTaattcactctctggcccata	10	11	2	1			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:66436191T>A	uc001oja.3	-	1	1653	c.984A>T	c.(982-984)ttA>ttT	p.L328F	RBM4B_uc001ojb.3_Missense_Mutation_p.L328F	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	Homo sapiens RNA binding motif protein 4B (RBM4B), mRNA.	328	Interaction with TNPO3 (By similarity).				RNA splicing|circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing	nucleolus	RNA binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AAGCCTGAGATAATTCACTCT	0.552													19	40					0	0	1	0	0	A	66436191	T	A	66436191	3	1	77	1	0	0	0	0	1	0	0	0	13142	1403	49	5	99	5	RBM4B	11	66436191	Missense_Mutation	SNP	T	TCGA-DJ-A1QO-01A-11D-A14W-08	46031467	66436191	68570325	14	1402											
NAV3	89795	broad.mit.edu	37	chr12	78583811	78583811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtttttgatacgctgattCctaaaccaattacccaaagg	6	9	0	2			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr12:78583811C>T	uc001syp.3	+	33	6276	c.6103C>T	c.(6103-6105)Cct>Tct	p.P2035S	NAV3_uc001syo.3_Missense_Mutation_p.P2013S|NAV3_uc010sub.2_Missense_Mutation_p.P1492S|NAV3_uc009zsf.3_Missense_Mutation_p.P844S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2035						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACGCTGATTCCTAAACCAAT	0.353										HNSCC(70;0.22)			37	56					0	0	1	0	0	T	78583811	C	T	78583811	3	4	77	1	0	0	0	0	1	0	0	0	10185	855	30	2	6167	2	NAV3	12	78583811	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		78583811	55268084	15	1403											
MYCBP2	23077	broad.mit.edu	37	chr13	77673090	77673090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgtttagaggacagCtctgattttcctgatgtaga	11	7	1	4			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr13:77673090C>T	uc021rks.1	-	55	8466	c.8199G>A	c.(8197-8199)gaG>gaA	p.E2733E	MYCBP2_uc010aev.3_Silent_p.E2099E|MYCBP2_uc001vkg.1_Silent_p.E218E|MYCBP2_uc010aew.3_Silent_p.E81E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2695	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGAGGACAGCTCTGATTTTC	0.413													32	66					0	0	1	0	0	T	77673090	C	T	77673090	2	4	77	1	0	0	0	0	0	0	0	1	10018	796	28	2		2	MYCBP2	13	77673090	Silent	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		77673090	37496788	16	1404											
DNAI2	64446	broad.mit.edu	37	chr17	72278108	72278108	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacccagtggacacgggcaTccagtgctcgatcagcatgt	12	12	1	0			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr17:72278108T>A	uc002jkf.3	+	1	262	c.152T>A	c.(151-153)aTc>aAc	p.I51N	DNAI2_uc002jkg.3_Missense_Mutation_p.I51N|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	51					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACACGGGCATCCAGTGCTCG	0.662									Kartagener syndrome				27	53					0	0	1	0	0	A	72278108	T	A	72278108	3	1	77	1	0	0	0	0	1	0	0	0	4610	1435	50	5	154	5	DNAI2	17	72278108	Missense_Mutation	SNP	T	TCGA-DJ-A1QO-01A-11D-A14W-08		72278108	8917102	17	1405											
MN1	4330	broad.mit.edu	37	chr22	28194931	28194933	+	In_Frame_Del	DEL	TGT	TGT	-													gttgctgctgctgctgctgcTgttgctgctgctgctgctgc					rs34890218		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr22:28194931_28194933delTGT	uc003adj.3	-	0	2554_2556	c.1599_1601delACA	c.(1597-1602)caacag>cag	p.533_534QQ>Q		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	533	Poly-Gln.						binding	p.Q550_R551insQ(1)|p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgctgttgctgctgct	0.65			T	ETV6	"AML, meningioma"								4	7	---	---	---	---						-	28194933	TGT	-	28194931	7	5	77	1	0	1	0	1	0	0	0	0	9673	1580	55	0	2369	0	MN1	22	28194931	In_Frame_Del	DEL	TGT	TCGA-DJ-A1QO-01A-11D-A14W-08		28194931	23109635	18	1406											
ZC3H11A	9877	broad.mit.edu	37	chr1	203818917	203818917	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatgagagagaagcacatgCagaaacagcaggagagggaa	14	7	0	4			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr1:203818917C>G	uc001hac.3	+	16	2318	c.1702C>G	c.(1702-1704)Cag>Gag	p.Q568E	ZC3H11A_uc001had.3_Missense_Mutation_p.Q568E|ZC3H11A_uc001hae.3_Missense_Mutation_p.Q568E|ZC3H11A_uc001haf.3_Missense_Mutation_p.Q568E|ZC3H11A_uc010pqm.2_Missense_Mutation_p.Q514E|ZC3H11A_uc001hag.1_Missense_Mutation_p.Q568E	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	568							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCACATGCAGAAACAGCA	0.463													74	104					0	0	1	0	0	G	203818917	C	G	203818917	3	3	78	1	0	0	0	0	1	0	0	0	17557	711	25	4	1752	4	ZC3H11A	1	203818917	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		203818917	45431704	1	1407											
MBD5	55777	broad.mit.edu	37	chr2	149240876	149240876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttccatccaacagcactTcaaacaaccatcttccacac	1	16	2	0			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr2:149240876T>C	uc002twm.4	+	9	3713	c.2716T>C	c.(2716-2718)Tca>Cca	p.S906P	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	906						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACAGCACTTCAAACAACCA	0.483													3	177					0	0	1	0	0	C	149240876	T	C	149240876	3	2	78	1	0	0	0	0	1	0	0	0	9347	1783	62	3	2734	3	MBD5	2	149240876	Missense_Mutation	SNP	T	TCGA-DJ-A1QQ-01A-11D-A14W-08		149240876	93958497	2	1408											
SCN5A	6331	broad.mit.edu	37	chr3	38651439	38651439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagactggatcagggccccCacgatggtcttcagccctgg	12	14	3	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:38651439C>T	uc021wvo.1	-	5	772	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SCN5A_uc021wvk.1_Silent_p.V240V|SCN5A_uc021wvl.1_Silent_p.V240V|SCN5A_uc021wvm.1_Silent_p.V240V|SCN5A_uc021wvn.1_Silent_p.V240V|SCN5A_uc021wvp.1_Silent_p.V240V|SCN5A_uc021wvq.1_Silent_p.V240V|SCN5A_uc021wvr.1_Silent_p.V240V|SCN5A_uc021wvs.1_Silent_p.V240V|SCN5A_uc021wvt.1_Silent_p.V240V|SCN5A_uc021wvu.1_Silent_p.V240V|SCN5A_uc021wvv.1_Silent_p.V240V|SCN5A_uc021wvj.1_Silent_p.V106V|SCN5A_uc021wvi.1_Silent_p.V106V|SCN5A_uc010hhl.1_Silent_p.V63V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	240					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCAGGGCCCCCACGATGGTCT	0.617													17	54					0	0	1	0	0	T	38651439	C	T	38651439	2	4	78	1	0	0	0	0	0	0	0	1	13922	581	21	2		2	SCN5A	3	38651439	Silent	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		38651439	159370991	3	1409											
ALS2CL	259173	broad.mit.edu	37	chr3	46725278	46725278	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacccacactcacctggccCtgggagtccttggcacaaaa	8	16	2	0			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:46725278C>G	uc003cqa.2	-	8	1099	c.906G>C	c.(904-906)caG>caC	p.Q302H	ALS2CL_uc003cpz.2_5'Flank|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.Q302H	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	302					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCACCTGGCCCTGGGAGTCCT	0.602													11	203					0	0	1	0	0	G	46725278	C	G	46725278	3	3	78	1	0	0	0	0	1	0	0	0	551	680	24	4	2027	4	ALS2CL	3	46725278	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08	8073839	46725278	151297152	4	1410											
SLIT2	9353	broad.mit.edu	37	chr4	20555525	20555525	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcctggaattgctcgttgtGctggtcctggagaaatggca	14	8	0	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr4:20555525G>C	uc003gpr.1	+	25	2863	c.2659G>C	c.(2659-2661)Gct>Cct	p.A887P	SLIT2_uc003gps.1_Missense_Mutation_p.A879P	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	887	LRRCT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCTCGTTGTGCTGGTCCTGG	0.408													4	94					0	0	1	0	0	C	20555525	G	C	20555525	3	2	78	1	0	0	0	0	1	0	0	0	14740	1319	46	4	2761	4	SLIT2	4	20555525	Missense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		20555525	170598751	5	1411											
ADAMTS19	171019	broad.mit.edu	37	chr5	128956351	128956351	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgaccacccatcgtgtgctGatggtcttcatatcatgtct	8	11	4	2			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:128956351G>C	uc003kvb.1	+	8	1501	c.1501G>C	c.(1501-1503)Gat>Cat	p.D501H	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	501	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATCGTGTGCTGATGGTCTTCA	0.358													8	111					0	0	1	0	0	C	128956351	G	C	128956351	3	2	78	1	0	0	0	0	1	0	0	0	264	1290	45	4	1535	4	ADAMTS19	5	128956351	Missense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		128956351	51958909	6	1412											
CANX	821	broad.mit.edu	37	chr5	179150714	179150714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcgcccgtggctgtgGgtagtctatattctaactgt	13	8	2	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:179150714G>T	uc011dgp.2	+	11	1632	c.1557G>T	c.(1555-1557)tgG>tgT	p.W519C	CANX_uc003mkk.3_Missense_Mutation_p.W484C|CANX_uc003mkl.3_Missense_Mutation_p.W484C|CANX_uc011dgq.2_Missense_Mutation_p.W376C	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	484					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTGGCTGTGGGTAGTCTATA	0.458													32	80					0	0	1	0	0	T	179150714	G	T	179150714	3	4	78	1	0	0	0	0	1	0	0	0	2618	1241	43	4	1494	4	CANX	5	179150714	Missense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08	50194363	179150714	1764546	7	1413											
VPS52	6293	broad.mit.edu	37	chr6	33232649	33232649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcaatggcatcgtagCagtcagctagataagaatcc	9	9	1	2			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr6:33232649C>T	uc003odm.1	-	12	1520	c.1310G>A	c.(1309-1311)tGc>tAc	p.C437Y	VPS52_uc003odn.1_Missense_Mutation_p.C248Y	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	437					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GGCATCGTAGCAGTCAGCTAG	0.438													11	212					0	0	1	0	0	T	33232649	C	T	33232649	3	4	78	1	0	0	0	0	1	0	0	0	17211	710	25	2	893	2	VPS52	6	33232649	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		33232649	137882418	8	1414											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	43					0	0	1	0	0	T	140453136	A	T	140453136	3	4	78	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		140453136	18685527	9	1415											
EPPK1	83481	broad.mit.edu	37	chr8	144940615	144940615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggtcgatgacgaagccGgtggccgcctgcgcctccag	16	14	0	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr8:144940615G>A	uc003zaa.1	-	0	6820	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2269						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716													4	39					0	0	1	0	0	A	144940615	G	A	144940615	2	1	78	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144940615	Silent	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		144940615	1423407	10	1416											
ZNF503	84858	broad.mit.edu	37	chr10	77158996	77159007	+	In_Frame_Del	DEL	GGCCGTTAGCGA	GGCCGTTAGCGA	-													gtggcgccagcagccgcggcGgccgttagcgaggagtgcac							TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr10:77158996_77159007delGGCCGTTAGCGA	uc001jxg.3	-	1	1777_1788	c.1441_1452delTCGCTAACGGCC	c.(1441-1452)tcgctaacggccdel	p.SLTA481del	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	481	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CAGCCGCGGCGGCCGTTAGCGAGGAGTGCACA	0.684													11	19	---	---	---	---						-	77159007	GGCCGTTAGCGA	-	77158996	7	5	78	1	0	1	0	1	0	0	0	0	17948	1103	39	0	492	0	ZNF503	10	77158996	In_Frame_Del	DEL	GGCCGTTAGCGA	TCGA-DJ-A1QQ-01A-11D-A14W-08		77158996	58375751	11	1417											
MMP3	4314	broad.mit.edu	37	chr11	102711322	102711322	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaacgagaaataaattggTccctatttaagaaattgaga	8	5	0	3			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr11:102711322T>A	uc001phj.1	-	4	693	c.628A>T	c.(628-630)Acc>Tcc	p.T210S		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	210					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AATAAATTGGTCCCTATTTAA	0.388													18	48					0	0	1	0	0	A	102711322	T	A	102711322	3	1	78	1	0	0	0	0	1	0	0	0	9666	1667	58	5	829	5	MMP3	11	102711322	Missense_Mutation	SNP	T	TCGA-DJ-A1QQ-01A-11D-A14W-08		102711322	32295194	12	1418											
FAM48A	55578	broad.mit.edu	37	chr13	37596275	37596275	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgttacaggcattgcctGgctcagagacctttgctgct	12	10	1	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr13:37596275G>A	uc001uwk.3	-	19	2019	c.1771C>T	c.(1771-1773)Cag>Tag	p.Q591*	FAM48A_uc010abt.3_Intron|FAM48A_uc001uwg.3_Intron|FAM48A_uc001uwh.3_Intron|FAM48A_uc001uwi.3_Intron|FAM48A_uc001uwj.3_Intron|FAM48A_uc001uwd.3_5'UTR|FAM48A_uc001uwe.3_Intron|FAM48A_uc001uwf.3_Intron	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	562					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GGCATTGCCTGGCTCAGAGAC	0.517													18	26					0	0	1	0	0	A	37596275	G	A	37596275	4	1	78	1	0	0	0	0	0	1	0	0	5572	1363	47	2		2	FAM48A	13	37596275	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		37596275	77573603	13	1419											
MYO9A	4649	broad.mit.edu	37	chr15	72190581	72190581	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttgttgggggatataAaaaaaagtaggtagactatt	13	2	1	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr15:72190581A>T	uc002atl.4	-	24	4736	c.4263T>A	c.(4261-4263)ttT>ttA	p.F1421L	MYO9A_uc010biq.3_Missense_Mutation_p.F1041L|MYO9A_uc002atn.1_Missense_Mutation_p.F1402L|MYO9A_uc002atk.3_Missense_Mutation_p.F145L|MYO9A_uc002atm.1_Missense_Mutation_p.F145L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1421	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGGGATATAAAAAAAAGTAG	0.398													35	39					0	0	1	0	0	T	72190581	A	T	72190581	3	4	78	1	0	0	0	0	1	0	0	0	10084	11	1	5	3455	5	MYO9A	15	72190581	Missense_Mutation	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		72190581	30340811	14	1420											
PPL	5493	broad.mit.edu	37	chr16	4934851	4934851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttttcagctggtagaTctctaaatcacacctttcga	5	11	3	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:4934851T>C	uc002cyd.1	-	21	3895	c.3805A>G	c.(3805-3807)Atc>Gtc	p.I1269V		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1269					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.E1268K(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTGGTAGATCTCTAAATCA	0.507													10	168					0	0	1	0	0	C	4934851	T	C	4934851	3	2	78	1	0	0	0	0	1	0	0	0	12334	1435	50	3	1469	3	PPL	16	4934851	Missense_Mutation	SNP	T	TCGA-DJ-A1QQ-01A-11D-A14W-08		4934851	85419902	15	1421											
PKD1L2	114780	broad.mit.edu	37	chr16	81232604	81232604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagattgtacggtagcgaGcccttttgggtggtggactc	14	8	1	1			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:81232604G>A	uc002fgh.1	-	6	1206	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G	PKD1L2_uc002fgj.3_Silent_p.G402G	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	402					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGGTAGCGAGCCCTTTTGGG	0.532													38	56					0	0	1	0	0	A	81232604	G	A	81232604	2	1	78	1	0	0	0	0	0	0	0	1	11965	958	34	2		2	PKD1L2	16	81232604	Silent	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08	76297753	81232604	9122149	16	1422											
CACNB1	782	broad.mit.edu	37	chr17	37333711	37333711	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggtgtgtggccttccaAtaggcttccaagtactccgc	13	12	0	0			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr17:37333711A>G	uc002hrm.2	-	12	1432	c.1224T>C	c.(1222-1224)taT>taC	p.Y408Y	CACNB1_uc002hrl.1_Silent_p.Y180Y|CACNB1_uc002hrn.3_Silent_p.Y408Y|CACNB1_uc002hro.3_Silent_p.Y453Y	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	408					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TGGCCTTCCAATAGGCTTCCA	0.612													11	17					0	0	1	0	0	G	37333711	A	G	37333711	2	3	78	1	0	0	0	0	0	0	0	1	2552	108	4	3		3	CACNB1	17	37333711	Silent	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		37333711	43861499	17	1423											
OR7G3	390883	broad.mit.edu	37	chr19	9236922	9236922	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagatggaaaaagctttAtactttccaccagctgatgg	9	10	0	2			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr19:9236922A>G	uc010xkl.2	-	0	705	c.705T>C	c.(703-705)taT>taC	p.Y235Y		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAAAGCTTTATACTTTCCAC	0.448													27	140					0	0	1	0	0	G	9236922	A	G	9236922	2	3	78	1	0	0	0	0	0	0	0	1	11224	456	16	3		3	OR7G3	19	9236922	Silent	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		9236922	49892061	18	1424											
LRRC7	57554	broad.mit.edu	37	chr1	70505355	70505355	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taactatggtgacaagccatCagataacagtgatttaaaga	8	6	1	4			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr1:70505355C>T	uc001dep.3	+	18	3764	c.3734C>T	c.(3733-3735)tCa>tTa	p.S1245L	LRRC7_uc009wbg.3_Missense_Mutation_p.S529L|LRRC7_uc001deq.3_Missense_Mutation_p.S486L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1245						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GACAAGCCATCAGATAACAGT	0.463													31	32					0	0	1	0	0	T	70505355	C	T	70505355	3	4	79	1	0	0	0	0	1	0	0	0	9020	838	29	2	3808	2	LRRC7	1	70505355	Missense_Mutation	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		70505355	178745266	1	1425											
SORBS2	8470	broad.mit.edu	37	chr4	186545308	186545308	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggacgtagggggacccccaCgccatggggcagctctcctt	15	14	1	0			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr4:186545308C>G	uc003iyg.3	-	12	1637	c.1605G>C	c.(1603-1605)gcG>gcC	p.A535A	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.A521A|SORBS2_uc003iyl.3_Silent_p.A421A|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.A325A|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	421						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGGACCCCCACGCCATGGGGC	0.592													3	43					0	0	1	0	0	G	186545308	C	G	186545308	2	3	79	1	0	0	0	0	0	0	0	1	14928	523	19	4		4	SORBS2	4	186545308	Silent	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		186545308	4608968	2	1426											
MTMR12	54545	broad.mit.edu	37	chr5	32239191	32239191	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cactccttttggatgaggctCtggaaaccaattctggttct	9	10	3	1			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr5:32239191C>G	uc003jhq.3	-	12	1430	c.1260G>C	c.(1258-1260)caG>caC	p.Q420H	MTMR12_uc010iuk.3_Missense_Mutation_p.Q420H|MTMR12_uc010iul.3_Missense_Mutation_p.Q420H	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	420	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGATGAGGCTCTGGAAACCAA	0.542													4	39					0	0	1	0	0	G	32239191	C	G	32239191	3	3	79	1	0	0	0	0	1	0	0	0	9941	912	32	4	999	4	MTMR12	5	32239191	Missense_Mutation	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		32239191	148676069	3	1427											
HEATR2	54919	broad.mit.edu	37	chr7	780548	780548	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagctcatccctctgctgctCagtagcctcaacgacgaggt	9	14	4	0			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr7:780548C>T	uc010krz.1	+	2	893	c.873C>T	c.(871-873)ctC>ctT	p.L291L	HEATR2_uc003siz.2_Silent_p.L159L	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	291							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTCTGCTGCTCAGTAGCCTCA	0.627													7	94					0	0	1	0	0	T	780548	C	T	780548	2	4	79	1	0	0	0	0	0	0	0	1	7028	813	29	2		2	HEATR2	7	780548	Silent	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		780548	158358115	4	1428											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	47					0	0	1	0	0	T	140453136	A	T	140453136	3	4	79	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PN-01A-21D-A19J-08	139672588	140453136	18685527	5	1429											
PDP1	54704	broad.mit.edu	37	chr8	94935010	94935010	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctctaattaatgccttcaaGaggcttgataatgacatctc	7	9	3	3			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr8:94935010G>A	uc011lgn.2	+	1	949	c.900G>A	c.(898-900)aaG>aaA	p.K300K	PDP1_uc003ygf.3_Silent_p.K266K|PDP1_uc003yge.3_Silent_p.K241K|PDP1_uc010max.3_Silent_p.K266K|PDP1_uc011lgm.2_Silent_p.K241K|PDP1_uc022ayg.1_Silent_p.K241K	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	241					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ATGCCTTCAAGAGGCTTGATA	0.443													40	53					0	0	1	0	0	A	94935010	G	A	94935010	2	1	79	1	0	0	0	0	0	0	0	1	11685	933	33	2		2	PDP1	8	94935010	Silent	SNP	G	TCGA-DJ-A2PN-01A-21D-A19J-08		94935010	51429012	6	1430											
AMIGO2	347902	broad.mit.edu	37	chr12	47472140	47472140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctcagctgttttcctgGcactaaatttatgtggtgca	9	10	1	0	rs148297134	byFrequency	TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr12:47472140G>A	uc001rpm.3	-	2	1301	c.646C>T	c.(646-648)Cca>Tca	p.P216S	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.P216S|AMIGO2_uc001rpl.3_Missense_Mutation_p.P216S|AMIGO2_uc021qxg.1_Missense_Mutation_p.P216S	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	216					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGTTTTCCTGGCACTAAATTT	0.428													3	43					0	0	1	0	0	A	47472140	G	A	47472140	3	1	79	1	0	0	0	0	1	0	0	0	576	1203	42	2	926	2	AMIGO2	12	47472140	Missense_Mutation	SNP	G	TCGA-DJ-A2PN-01A-21D-A19J-08		47472140	86379755	7	1431											
PIBF1	10464	broad.mit.edu	37	chr13	73468026	73468026	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaacttctgcaagaggAaacagcaagaaatctcacac	7	10	3	2			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr13:73468026A>T	uc001vjc.3	+	10	1732	c.1427A>T	c.(1426-1428)gAa>gTa	p.E476V	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.E476V|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	476						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CTGCAAGAGGAAACAGCAAGA	0.338													27	32					0	0	1	0	0	T	73468026	A	T	73468026	3	4	79	1	0	0	0	0	1	0	0	0	11879	246	9	5	1465	5	PIBF1	13	73468026	Missense_Mutation	SNP	A	TCGA-DJ-A2PN-01A-21D-A19J-08		73468026	41701852	8	1432											
SLC8A2	6543	broad.mit.edu	37	chr19	47935698	47935698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcctcctcctcctcctcGtcccctgtgggcacacgacc	7	22	0	0			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr19:47935698G>A	uc010ele.3	-	7	2131	c.2115C>T	c.(2113-2115)gaC>gaT	p.D705D	SLC8A2_uc002pgx.3_Silent_p.D705D|SLC8A2_uc010xyq.2_Silent_p.D461D|SLC8A2_uc010xyr.2_Silent_p.D168D			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	705					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCTCCTCGTCCCCTGTGG	0.592													5	82					0	0	1	0	0	A	47935698	G	A	47935698	2	1	79	1	0	0	0	0	0	0	0	1	14707	1136	40	1		1	SLC8A2	19	47935698	Silent	SNP	G	TCGA-DJ-A2PN-01A-21D-A19J-08		47935698	11193285	9	1433											
VPS13D	55187	broad.mit.edu	37	chr1	12416017	12416017	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attccacctggaacccaaaaCtatatggtgagaatgcgact	8	10	0	1			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:12416017C>G	uc001atv.3	+	47	9882	c.9741C>G	c.(9739-9741)aaC>aaG	p.N3247K	VPS13D_uc001atw.3_Missense_Mutation_p.N3222K|VPS13D_uc001atx.3_Missense_Mutation_p.N2434K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3246					protein localization			p.Q3246P(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACCCAAAACTATATGGTGA	0.438													5	125					0	0	1	0	0	G	12416017	C	G	12416017	3	3	80	1	0	0	0	0	1	0	0	0	17189	564	20	4	9927	4	VPS13D	1	12416017	Missense_Mutation	SNP	C	TCGA-DJ-A2PO-01A-21D-A19J-08		12416017	236834604	1	1434											
ADAM15	8751	broad.mit.edu	37	chr1	155026852	155026852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggcctggggaccttcAgggtcctcccattatttcgc	13	13	1	0			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:155026852A>G	uc001fgr.1	+	5	583	c.482A>G	c.(481-483)cAg>cGg	p.Q161R	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.Q145R|ADAM15_uc010peu.1_Missense_Mutation_p.Q178R|ADAM15_uc001fgx.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgs.1_Missense_Mutation_p.Q161R|ADAM15_uc010pev.1_Missense_Mutation_p.Q171R|ADAM15_uc001fgu.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgv.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgw.1_Missense_Mutation_p.Q161R	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	161					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGGGACCTTCAGGGTCCTCCC	0.547													4	199					0	0	1	0	0	G	155026852	A	G	155026852	3	3	80	1	0	0	0	0	1	0	0	0	237	188	7	3	504	3	ADAM15	1	155026852	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08	142610835	155026852	94223769	2	1435											
ARHGAP30	257106	broad.mit.edu	37	chr1	161024210	161024210	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagcatgcatgttggtcTgggcactgaatgaggccatg	15	8	1	2			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:161024210T>A	uc001fxl.3	-	4	828	c.482A>T	c.(481-483)cAg>cTg	p.Q161L	ARHGAP30_uc001fxk.3_Missense_Mutation_p.Q161L|ARHGAP30_uc001fxm.3_Missense_Mutation_p.Q7L|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.Q7L	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	161	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CATGTTGGTCTGGGCACTGAA	0.597													13	39					0	0	1	0	0	A	161024210	T	A	161024210	3	1	80	1	0	0	0	0	1	0	0	0	879	1580	55	5	2855	5	ARHGAP30	1	161024210	Missense_Mutation	SNP	T	TCGA-DJ-A2PO-01A-21D-A19J-08	5997358	161024210	88226411	3	1436											
USH2A	7399	broad.mit.edu	37	chr1	216251673	216251673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaagactggtatttaacCggaaggtcaatattccactt	9	8	1	1			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:216251673C>T	uc001hku.1	-	26	5717	c.5330G>A	c.(5329-5331)cGg>cAg	p.R1777Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1777	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.F1776Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTATTTAACCGGAAGGTCAA	0.373										HNSCC(13;0.011)			5	712					0	0	1	0	0	T	216251673	C	T	216251673	3	4	80	1	0	0	0	0	1	0	0	0	17033	652	23	1	10462	1	USH2A	1	216251673	Missense_Mutation	SNP	C	TCGA-DJ-A2PO-01A-21D-A19J-08	55227463	216251673	32998948	4	1437											
COL6A3	1293	broad.mit.edu	37	chr2	238280362	238280362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaggagaacctccgacGcccccatctcacctggaggt	9	17	1	1			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr2:238280362G>A	uc002vwq.3	-	7	3965	c.3680C>T	c.(3679-3681)gCg>gTg	p.A1227V	COL6A3_uc002vwl.2_Intron|COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwr.3_Missense_Mutation_p.A1026V	NM_057165	NP_476506	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 3, mRNA.	1434	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACCTCCGACGCCCCCATCTC	0.478													5	246					0	0	1	0	0	A	238280362	G	A	238280362	3	1	80	1	0	0	0	0	1	0	0	0	3701	1087	38	1	5426	1	COL6A3	2	238280362	Missense_Mutation	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		238280362	4919011	5	1438											
ADCK2	90956	broad.mit.edu	37	chr7	140374545	140374545	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggaggaatttgagaagctGatggtccaacaggtgagttc	15	5	0	3			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr7:140374545G>C	uc003vvy.1	+	1	1246	c.1068G>C	c.(1066-1068)ctG>ctC	p.L356L	ADCK2_uc003vvz.3_Silent_p.L356L	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	356	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TTGAGAAGCTGATGGTCCAAC	0.458													16	27					0	0	1	0	0	C	140374545	G	C	140374545	2	2	80	1	0	0	0	0	0	0	0	1	289	1277	45	4		4	ADCK2	7	140374545	Silent	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		140374545	18764118	6	1439											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				41	86					0	0	1	0	0	T	140453136	A	T	140453136	3	4	80	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08	78591	140453136	18685527	7	1440											
NFX1	4799	broad.mit.edu	37	chr9	33294604	33294604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctctgctgttcatcagcAtagttatcatccgtcaggaa	7	10	5	0			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr9:33294604A>G	uc003zsr.3	+	1	365	c.212A>G	c.(211-213)cAt>cGt	p.H71R	NFX1_uc011lnw.2_Missense_Mutation_p.H71R|NFX1_uc003zso.3_Missense_Mutation_p.H71R|NFX1_uc003zsp.2_Missense_Mutation_p.H71R|NFX1_uc010mjr.2_Missense_Mutation_p.H71R|NFX1_uc003zsq.3_Missense_Mutation_p.H71R	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	71					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTTCATCAGCATAGTTATCAT	0.453													7	333					0	0	1	0	0	G	33294604	A	G	33294604	3	3	80	1	0	0	0	0	1	0	0	0	10387	217	8	3	218	3	NFX1	9	33294604	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08		33294604	107918827	8	1441											
C2CD3	26005	broad.mit.edu	37	chr11	73879565	73879565	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaggctttgcaatcttcCatatgactctattaacagta	8	8	2	1			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr11:73879565C>T	uc001ouu.2	-	1	376	c.149G>A	c.(148-150)tGg>tAg	p.W50*	PPME1_uc001ouw.3_5'Flank|C2CD3_uc001ouv.2_Nonsense_Mutation_p.W50*	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	50						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCAATCTTCCATATGACTCT	0.458													7	256					0	0	1	0	0	T	73879565	C	T	73879565	4	4	80	1	0	0	0	0	0	1	0	0	2154	595	21	2	5862	2	C2CD3	11	73879565	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PO-01A-21D-A19J-08		73879565	61126951	9	1442											
SOX5	6660	broad.mit.edu	37	chr12	23696258	23696258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggacgctttatgtggggtTcattgctaccacgccctcgg	12	11	1	0			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:23696258T>C	uc001rfw.3	-	12	1760	c.1658A>G	c.(1657-1659)gAa>gGa	p.E553G	SOX5_uc001rfx.3_Missense_Mutation_p.E540G|SOX5_uc001rfy.3_Missense_Mutation_p.E432G|SOX5_uc001rfv.3_Missense_Mutation_p.E167G|SOX5_uc010siv.2_Missense_Mutation_p.E540G|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.E505G	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	553					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TATGTGGGGTTCATTGCTACC	0.458													5	210					0	0	1	0	0	C	23696258	T	C	23696258	3	2	80	1	0	0	0	0	1	0	0	0	14954	1783	62	3	645	3	SOX5	12	23696258	Missense_Mutation	SNP	T	TCGA-DJ-A2PO-01A-21D-A19J-08		23696258	110155637	10	1443											
PAWR	5074	broad.mit.edu	37	chr12	79990400	79990400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttctatctgttcgagaaTatctacttgagacatcttct	5	10	5	2			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:79990400T>C	uc001syx.3	-	4	1008	c.722A>G	c.(721-723)tAt>tGt	p.Y241C		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.	241					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGTTCGAGAATATCTACTTGA	0.358													46	76					0	0	1	0	0	C	79990400	T	C	79990400	3	2	80	1	0	0	0	0	1	0	0	0	11477	1406	49	3	312	3	PAWR	12	79990400	Missense_Mutation	SNP	T	TCGA-DJ-A2PO-01A-21D-A19J-08	56294142	79990400	53861495	11	1444											
SERF2	10169	broad.mit.edu	37	chr15	44085945	44085945	+	Missense_Mutation	SNP	A	A	T													agcagaagcagaaaaaggcaAacgagaagaaggaggaaccc							TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085945A>T	uc010bdq.3	+	2	689	c.288A>T	c.(286-288)caA>caT	p.Q96H	ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.N52Y|SERF2_uc021skb.1_Missense_Mutation_p.N52Y|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Missense_Mutation_p.Q59H|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.N38Y|MIR1282_uc021ske.1_Non-coding_Transcript	NM_001199875	NP_001186804	P84101	SERF2_HUMAN	Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA.	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAAAAAGGCAAACGAGAAGAA	0.572													5	189					0	0	1	0	0	T	44085945	A	T	44085945	3	4	80	1	0	0	0	0	1	0	0	0	14076	14	1	5	164	5	SERF2	15	44085945	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08		44085945	58445447	12	1445	2	2									
SERF2	10169	broad.mit.edu	37	chr15	44085952	44085952	+	Nonsense_Mutation	SNP	A	A	T													gcagaaaaaggcaaacgagaAgaaggaggaacccaagtagc							TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085952A>T	uc010bdq.3	+	2	696	c.295A>T	c.(295-297)Aga>Tga	p.R99*	ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.K54M|SERF2_uc021skb.1_Missense_Mutation_p.K54M|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Nonsense_Mutation_p.R62*|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.K40M|MIR1282_uc021ske.1_Non-coding_Transcript	NM_001199875	NP_001186804	P84101	SERF2_HUMAN	Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA.	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCAAACGAGAAGAAGGAGGAA	0.562													6	183					0	0	1	0	0	T	44085952	A	T	44085952	4	4	80	1	0	0	0	0	0	1	0	0	14076	72	3	5	171	5	SERF2	15	44085952	Nonsense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08	7	44085952	58445440	13	1446	2	2									
CARHSP1	23589	broad.mit.edu	37	chr16	8952307	8952307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagactcctttgtagacggGgccctgtgaagcccgcaccg	13	14	0	3			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr16:8952307G>A	uc002czh.1	-	2	531	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	CARHSP1_uc002czi.1_Missense_Mutation_p.P61S	NM_001042476	NP_055131	Q9Y2V2	CHSP1_HUMAN	Homo sapiens calcium regulated heat stable protein 1, 24kDa (CARHSP1), transcript variant 2, mRNA.	61					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	P granule|cytoplasmic mRNA processing body|cytosol	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						TTGTAGACGGGGCCCTGTGAA	0.607													6	81					0	0	1	0	0	A	8952307	G	A	8952307	3	1	80	1	0	0	0	0	1	0	0	0	2653	1232	43	2	270	2	CARHSP1	16	8952307	Missense_Mutation	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		8952307	81402446	14	1447											
SETBP1	26040	broad.mit.edu	37	chr18	42281493	42281493	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggagccagaggaggaggAtgaactaggctcagggcggg	19	7	1	2			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr18:42281493A>T	uc010dni.3	+	1	478	c.182A>T	c.(181-183)gAt>gTt	p.D61V	SETBP1_uc002lay.3_Missense_Mutation_p.D61V	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	61						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAGGAGGATGAACTAGGC	0.582									Schinzel-Giedion syndrome				12	114					0	0	1	0	0	T	42281493	A	T	42281493	3	4	80	1	0	0	0	0	1	0	0	0	14129	333	12	5	184	5	SETBP1	18	42281493	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08		42281493	35795755	15	1448											
GFRA4	64096	broad.mit.edu	37	chr20	3641263	3641264	+	Frame_Shift_Del	DEL	CG	CG	-													gcagtcgcaccagggcgccaCgcgcgcgctcacgttgtcca							TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr20:3641263_3641264delCG	uc002wio.3	-	2	636_637	c.636_637delCG	c.(634-639)cgcgtgfs	p.R212fs	GFRA4_uc002win.3_Frame_Shift_Del_p.R182fs|GFRA4_uc002wip.1_3'UTR	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	212						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CAGGGCGCCACGCGCGCGCTCA	0.698													2	4	---	---	---	---						-	3641264	CG	-	3641263	7	5	80	1	0	1	0	1	0	0	0	0	6350	536	19	0	274	0	GFRA4	20	3641263	Frame_Shift_Del	DEL	CG	TCGA-DJ-A2PO-01A-21D-A19J-08		3641263	59384257	16	1449											
SH3BGR	6450	broad.mit.edu	37	chr21	40823936	40823936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccgacctggcacttGcttgcctgtgtcactgtcag	10	16	2	0			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr21:40823936G>A	uc002yya.3	+	0	157	c.103G>A	c.(103-105)Gct>Act	p.A35T	SH3BGR_uc002yxz.3_Intron	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	35					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CCTGGCACTTGCTTGCCTGTG	0.592													5	195					0	0	1	0	0	A	40823936	G	A	40823936	3	1	80	1	0	0	0	0	1	0	0	0	14240	1319	46	2	105	2	SH3BGR	21	40823936	Missense_Mutation	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		40823936	7305959	17	1450											
MYOM3	127294	broad.mit.edu	37	chr1	24383949	24383949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttgttcttgacgaagaCgccgtagcggccgctgtctt	11	11	2	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:24383949C>T	uc001bin.4	-	36	4382	c.4219G>A	c.(4219-4221)Gtc>Atc	p.V1407I	MYOM3_uc001bil.4_Missense_Mutation_p.V300I|MYOM3_uc001bim.4_Missense_Mutation_p.V1064I	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1407	Ig-like C2-type 4.							p.G1406G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTGACGAAGACGCCGTAGCGG	0.577													10	48					0	0	1	0	0	T	24383949	C	T	24383949	3	4	81	1	0	0	0	0	1	0	0	0	10093	536	19	1	98	1	MYOM3	1	24383949	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		24383949	224866672	1	1451											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			72	113					0	0	1	0	0	C	115256529	T	C	115256529	3	2	81	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08	90872580	115256529	133994092	2	1452											
PGLYRP4	57115	broad.mit.edu	37	chr1	153315684	153315684	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatccccaaccaggaaGctatggagcaagataataca	7	12	1	1			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:153315684G>A	uc001fbo.3	-	5	419	c.354_splice	c.e5-1	p.N118_splice	PGLYRP4_uc001fbp.3_Splice_Site_p.N114_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	118					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACCAGGAAGCTATGGAGCA	0.502													29	54					0	0	1	0	0	A	153315684	G	A	153315684	5	1	81	1	0	0	0	0	0	0	1	0	11796	985	34	2	787	2	PGLYRP4	1	153315684	Splice_Site	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08	38059155	153315684	95934937	3	1453											
LYST	1130	broad.mit.edu	37	chr1	235920719	235920719	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccacttaggagttcataTaatccacagcatataggtac	6	11	1	0			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:235920719T>C	uc001hxj.2	-	23	7096	c.6921A>G	c.(6919-6921)ttA>ttG	p.L2307L		NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2307					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGTTCATATAATCCACAGC	0.373													30	54					0	0	1	0	0	C	235920719	T	C	235920719	2	2	81	1	0	0	0	0	0	0	0	1	9128	1403	49	3		3	LYST	1	235920719	Silent	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08	82605035	235920719	13329902	4	1454											
CAPN13	92291	broad.mit.edu	37	chr2	30966369	30966369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcatggtgaagttgcggCggaatttattatttgagctt	12	4	1	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr2:30966369C>T	uc021vfn.1	-	11	1357	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R438H|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	442					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAAGTTGCGGCGGAATTTATT	0.463													70	121					0	0	1	0	0	T	30966369	C	T	30966369	3	4	81	1	0	0	0	0	1	0	0	0	2626	768	27	1	724	1	CAPN13	2	30966369	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		30966369	212233004	5	1455											
NRXN1	9378	broad.mit.edu	37	chr2	51254683	51254683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccggttcgcgagcagtcGcacacggcctggtcgtccac	13	15	0	0			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr2:51254683G>A	uc021vhg.1	-	0	1650	c.729C>T	c.(727-729)tgC>tgT	p.C243C	NRXN1_uc021vhh.1_Silent_p.C243C|NRXN1_uc021vhi.1_Silent_p.C243C|NRXN1_uc021vhj.1_Silent_p.C243C|NRXN1_uc021vhk.1_Silent_p.C243C	NM_001135659	NP_001129131	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.	243	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGAGCAGTCGCACACGGCCT	0.751													3	21					0	0	1	0	0	A	51254683	G	A	51254683	2	1	81	1	0	0	0	0	0	0	0	1	10665	1079	38	1		1	NRXN1	2	51254683	Silent	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08	20288314	51254683	191944690	6	1456											
PIGZ	80235	broad.mit.edu	37	chr3	196674504	196674504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaagaggagggcaccgaGggcgttgaagaggaccacag	18	9	0	3			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr3:196674504G>A	uc003fxh.3	-	2	1411	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	422					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AGGGCACCGAGGGCGTTGAAG	0.652													7	29					0	0	1	0	0	A	196674504	G	A	196674504	3	1	81	1	0	0	0	0	1	0	0	0	11905	1000	35	2	479	2	PIGZ	3	196674504	Missense_Mutation	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08		196674504	1347926	7	1457											
C5orf42	65250	broad.mit.edu	37	chr5	37169007	37169007	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagatgctcttgaggttgaTggaaacatattaggaggttt	12	3	1	3			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr5:37169007T>C	uc011cpa.1	-	33	7350	c.7119A>G	c.(7117-7119)ccA>ccG	p.P2373P	C5orf42_uc011coy.1_Silent_p.P873P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P1448P|C5orf42_uc003jkr.1_Silent_p.P406P	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2373										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGAGGTTGATGGAAACATAT	0.393													28	123					0	0	1	0	0	C	37169007	T	C	37169007	2	2	81	1	0	0	0	0	0	0	0	1	2301	1451	51	3		3	C5orf42	5	37169007	Silent	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		37169007	143746253	8	1458											
PCDHGC5	56097	broad.mit.edu	37	chr5	140736469	140736469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatcctgtaccccaccttcCctactgatggctccactggt	7	16	0	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr5:140736469C>A	uc003ljq.2	+	0	1702	c.1702C>A	c.(1702-1704)Cct>Act	p.P568T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P568T	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	570					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCACCTTCCCTACTGATGG	0.577													32	302					0	0	1	0	0	A	140736469	C	A	140736469	3	1	81	1	0	0	0	0	1	0	0	0	11571	623	22	4		4	PCDHGC5	5	140736469	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08	103567462	140736469	40178791	9	1459											
TULP4	56995	broad.mit.edu	37	chr6	158910761	158910761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaatcacccaaactccCaaggtaatctcagtctttgg	6	12	3	0			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr6:158910761C>T	uc003qrf.3	+	8	2985	c.1628C>T	c.(1627-1629)cCa>cTa	p.P543L	TULP4_uc003qrg.3_Missense_Mutation_p.P543L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	543					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCAAACTCCCAAGGTAATCT	0.478													8	57					0	0	1	0	0	T	158910761	C	T	158910761	3	4	81	1	0	0	0	0	1	0	0	0	16773	594	21	2	1662	2	TULP4	6	158910761	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		158910761	12204306	10	1460											
ANKMY2	57037	broad.mit.edu	37	chr7	16649339	16649339	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttctgatactttctctaatGatcttttcttgatacactgg	5	8	4	3			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr7:16649339G>A	uc003sti.3	-	6	1042	c.798C>T	c.(796-798)atC>atT	p.I266I	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	266						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCTCTAATGATCTTTTCTT	0.393													9	66					0	0	1	0	0	A	16649339	G	A	16649339	2	1	81	1	0	0	0	0	0	0	0	1	635	1280	45	2		2	ANKMY2	7	16649339	Silent	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08		16649339	142489324	11	1461											
CCDC132	55610	broad.mit.edu	37	chr7	92869235	92869235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccatagagagtctccgGgtccctggaaaggtattgag	15	8	1	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr7:92869235G>A	uc003umo.3	+	1	218	c.90G>A	c.(88-90)cgG>cgA	p.R30R	CCDC132_uc003ump.3_5'UTR|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.R30R|CCDC132_uc003umn.3_Silent_p.R30R	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	30										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGTCTCCGGGTCCCTGGAA	0.393													34	71					0	0	1	0	0	A	92869235	G	A	92869235	2	1	81	1	0	0	0	0	0	0	0	1	2767	1219	43	2		2	CCDC132	7	92869235	Silent	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08	76219896	92869235	66269428	12	1462											
TG	7038	broad.mit.edu	37	chr8	133935654	133935654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagtatcgagccagccagAaggacaggggcagtgggaag	17	9	0	1			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr8:133935654A>G	uc003ytw.3	+	21	4641	c.4600A>G	c.(4600-4602)Aag>Gag	p.K1534E	TG_uc010mdw.3_Missense_Mutation_p.K293E|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1534	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCCAGCCAGAAGGACAGGGG	0.572													6	55					0	0	1	0	0	G	133935654	A	G	133935654	3	3	81	1	0	0	0	0	1	0	0	0	15810	247	9	3	4686	3	TG	8	133935654	Missense_Mutation	SNP	A	TCGA-DJ-A2PP-01A-11D-A19J-08		133935654	12428368	13	1463											
ERCC6	2074	broad.mit.edu	37	chr10	50732508	50732508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaacgctcctcttttTtggacagaactctggctttc	6	11	3	1			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr10:50732508T>C	uc001jhs.4	-	4	1122	c.968A>G	c.(967-969)aAa>aGa	p.K323R	ERCC6_uc001jht.3_5'UTR|ERCC6_uc009xoe.3_Missense_Mutation_p.K323R|ERCC6_uc001jhu.3_Missense_Mutation_p.K323R	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	323					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCCTCTTTTTTGGACAGAAC	0.473								Direct reversal of damage;Nucleotide excision repair (NER)					47	79					0	0	1	0	0	C	50732508	T	C	50732508	3	2	81	1	0	0	0	0	1	0	0	0	5217	1841	64	3	3581	3	ERCC6	10	50732508	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		50732508	84802239	14	1464											
POLR3B	55703	broad.mit.edu	37	chr12	106903265	106903265	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgcctgcaagctgctcTtccaggaactacagtctatg	9	12	2	0			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr12:106903265T>A	uc001tlp.3	+	27	3562	c.3340T>A	c.(3340-3342)Ttc>Atc	p.F1114I	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.F1056I	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	1114					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAAGCTGCTCTTCCAGGAACT	0.443													36	59					0	0	1	0	0	A	106903265	T	A	106903265	3	1	81	1	0	0	0	0	1	0	0	0	12229	1609	56	5	3450	5	POLR3B	12	106903265	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		106903265	26948630	15	1465											
SLC12A4	6560	broad.mit.edu	37	chr16	67980860	67980860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcggcggcctgagcctCgccatagctctccaagaagc	11	16	1	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr16:67980860C>T	uc010vkj.1	-	15	2267	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.E735K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E710K|SLC12A4_uc002euz.2_Missense_Mutation_p.E741K|SLC12A4_uc010vki.1_Missense_Mutation_p.E741K|SLC12A4_uc002eva.2_Missense_Mutation_p.E741K|SLC12A4_uc010cev.1_Non-coding_Transcript|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	741					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTGAGCCTCGCCATAGCTC	0.637													26	51					0	0	1	0	0	T	67980860	C	T	67980860	3	4	81	1	0	0	0	0	1	0	0	0	14385	893	31	1	1068	1	SLC12A4	16	67980860	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		67980860	22373893	16	1466											
C17orf66	256957	broad.mit.edu	37	chr17	34185530	34185530	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccagcatcctaagtgcCtatgagggggcagggtaggg	16	8	0	2			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr17:34185530C>T	uc002hke.1	-	10	1089	c.940_splice	c.e10-1	p.A314_splice	C17orf66_uc010wck.1_Splice_Site|C17orf66_uc010wcl.1_Splice_Site_p.A274_splice|C17orf66_uc010wcm.1_Splice_Site_p.A280_splice	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	314							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCTAAGTGCCTATGAGGGGG	0.562													11	21					0	0	1	0	0	T	34185530	C	T	34185530	5	4	81	1	0	0	0	0	0	0	1	0	1874	695	24	2	797	2	C17orf66	17	34185530	Splice_Site	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		34185530	47009680	17	1467											
PTPRS	5802	broad.mit.edu	37	chr19	5244253	5244253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggactcgctggggggccccTggccgatggagttgacggcc	18	13	0	1			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr19:5244253T>C	uc002mbv.3	-	10	1463	c.1229A>G	c.(1228-1230)cAg>cGg	p.Q410R	PTPRS_uc002mbu.1_Missense_Mutation_p.Q397R|PTPRS_uc010xin.2_Missense_Mutation_p.Q397R|PTPRS_uc002mbw.3_Missense_Mutation_p.Q397R|PTPRS_uc002mbx.3_Missense_Mutation_p.Q401R|PTPRS_uc002mby.3_Missense_Mutation_p.Q397R	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	410	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGGGGCCCCTGGCCGATGGA	0.672													25	37					0	0	1	0	0	C	5244253	T	C	5244253	3	2	81	1	0	0	0	0	1	0	0	0	12811	1580	55	3	4729	3	PTPRS	19	5244253	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		5244253	53884730	18	1468											
SNX17	9784	broad.mit.edu	37	chr2	27599354	27599354	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttccccaggagtcaccTgatgccacccgggagtctat	9	15	3	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr2:27599354T>C	uc002rkg.1	+	13	1488	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	SNX17_uc010ylj.1_Silent_p.P402P|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Silent_p.P208P|SNX17_uc010yll.1_Silent_p.P208P|SNX17_uc010ylm.1_Silent_p.P208P|SNX17_uc010yln.1_Silent_p.P410P|SNX17_uc010ylo.1_Silent_p.P340P|SNX17_uc010ylp.1_Silent_p.P397P|SNX17_uc010ylk.1_Silent_p.P208P|SNX17_uc010eza.1_Silent_p.P208P|SNX17_uc010ylq.1_Silent_p.P208P	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	422					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGTCACCTGATGCCACCC	0.552													3	100					0	0	1	0	0	C	27599354	T	C	27599354	2	2	82	1	0	0	0	0	0	0	0	1	14888	1567	55	3		3	SNX17	2	27599354	Silent	SNP	T	TCGA-DJ-A2PQ-01A-11D-A18F-08		27599354	215600019	1	1469											
ZNF80	7634	broad.mit.edu	37	chr3	113955140	113955140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggatcttactctgttggGcaaaagcagagtggtagcca	13	7	2	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr3:113955140G>T	uc010hqo.3	-	0	1286	c.782C>A	c.(781-783)gCc>gAc	p.A261D	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	261						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCTGTTGGGCAAAAGCAGA	0.403													5	92					0	0	1	0	0	T	113955140	G	T	113955140	3	4	82	1	0	0	0	0	1	0	0	0	18165	1203	42	4	43	4	ZNF80	3	113955140	Missense_Mutation	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		113955140	84067290	2	1470											
MATR3	9782	broad.mit.edu	37	chr5	138643991	138643991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccatctgtgctctatatGtgatttgccagttcattcta	6	11	4	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr5:138643991G>T	uc003ldw.3	+	2	1290	c.887G>T	c.(886-888)tGt>tTt	p.C296F	MATR3_uc003lds.3_Missense_Mutation_p.C296F|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Missense_Mutation_p.C296F|MATR3_uc010jfb.3_Missense_Mutation_p.C296F|MATR3_uc003ldx.3_Missense_Mutation_p.C296F|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Missense_Mutation_p.C296F|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	296						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCTCTATATGTGATTTGCCA	0.378													4	106					0	0	1	0	0	T	138643991	G	T	138643991	3	4	82	1	0	0	0	0	1	0	0	0	9337	1377	48	4	889	4	MATR3	5	138643991	Missense_Mutation	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		138643991	42271269	3	1471											
KIAA1549	57670	broad.mit.edu	37	chr7	138579148	138579148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtctagcttgtctgtgcgGcatagtttccagtagaggat	12	7	2	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr7:138579148G>A	uc011kql.2	-	9	4021	c.3972C>T	c.(3970-3972)tgC>tgT	p.C1324C	KIAA1549_uc011kqi.2_Silent_p.C108C|KIAA1549_uc011kqk.2_Silent_p.C108C|KIAA1549_uc011kqj.2_Silent_p.C1324C	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1324						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTCTGTGCGGCATAGTTTCC	0.527			O	BRAF	pilocytic astrocytoma								4	117					0	0	1	0	0	A	138579148	G	A	138579148	2	1	82	1	0	0	0	0	0	0	0	1	8244	1195	42	2		2	KIAA1549	7	138579148	Silent	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		138579148	20559515	4	1472											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	20					0	0	1	0	0	T	140453136	A	T	140453136	3	4	82	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PQ-01A-11D-A18F-08	1873988	140453136	18685527	5	1473											
RDH10	157506	broad.mit.edu	37	chr8	74231385	74231385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatcatggtcatattgtgAcagttgcaagttccttggga	10	6	2	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr8:74231385A>G	uc003xzi.3	+	2	1268	c.580A>G	c.(580-582)Aca>Gca	p.T194A	RDH10_uc003xzj.3_Missense_Mutation_p.T29A|AK128216_uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.	194					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCATATTGTGACAGTTGCAAG	0.368													3	109					0	0	1	0	0	G	74231385	A	G	74231385	3	3	82	1	0	0	0	0	1	0	0	0	13189	275	10	3	590	3	RDH10	8	74231385	Missense_Mutation	SNP	A	TCGA-DJ-A2PQ-01A-11D-A18F-08		74231385	72132637	6	1474											
INHBE	83729	broad.mit.edu	37	chr12	57850257	57850257	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcttaagatccgagccaatGagcctggagcaggccgggcc	14	12	0	2			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr12:57850257G>A	uc001snw.3	+	1	903	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	227					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCGAGCCAATGAGCCTGGAGC	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	124					0	0	1	0	0	A	57850257	G	A	57850257	3	1	82	1	0	0	0	0	1	0	0	0	7744	1291	45	2	685	2	INHBE	12	57850257	Missense_Mutation	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		57850257	76001638	7	1475											
FBF1	85302	broad.mit.edu	37	chr17	73908312	73908312	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagtgccagcctggcatgGaggtgcaaggggctggggtc	19	9	0	0			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr17:73908312G>A	uc002jqc.3	-	27	3553	c.3279C>T	c.(3277-3279)ctC>ctT	p.L1093L	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.L1084L|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.L403L	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	1093										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCCTGGCATGGAGGTGCAAGG	0.632													7	18					0	0	1	0	0	A	73908312	G	A	73908312	2	1	82	1	0	0	0	0	0	0	0	1	5695	1161	41	2		2	FBF1	17	73908312	Silent	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		73908312	7286898	8	1476											
OR7C2	26658	broad.mit.edu	37	chr19	15052786	15052786	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcttgagaccttgacCattttgaggctgtccttctg	9	11	1	3			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr19:15052786C>A	uc010xoc.2	+	0	486	c.486C>A	c.(484-486)acC>acA	p.T162T		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					AGACCTTGACCATTTTGAGGC	0.507													85	130					0	0	1	0	0	A	15052786	C	A	15052786	2	1	82	1	0	0	0	0	0	0	0	1	11218	581	21	4		4	OR7C2	19	15052786	Silent	SNP	C	TCGA-DJ-A2PQ-01A-11D-A18F-08		15052786	44076197	9	1477											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45668203	45668203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggacatccagctcctcccTgaaggccagcgtctcccggg	12	16	1	1			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr19:45668203T>C	uc002pav.3	-	2	229	c.220A>G	c.(220-222)Agg>Ggg	p.R74G	TRAPPC6A_uc002paw.3_Missense_Mutation_p.R60G	NM_024108	NP_077013	O75865	TPC6A_HUMAN	Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), mRNA.	60					vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding	p.R74M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		AGCTCCTCCCTGAAGGCCAGC	0.637													3	80					0	0	1	0	0	C	45668203	T	C	45668203	3	2	82	1	0	0	0	0	1	0	0	0	16460	1579	55	3	317	3	TRAPPC6A	19	45668203	Missense_Mutation	SNP	T	TCGA-DJ-A2PQ-01A-11D-A18F-08	30615417	45668203	13460780	10	1478											
OSBPL9	114883	broad.mit.edu	37	chr1	52251509	52251509	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgacaagaagtctttttgctCaattgaaggggaatggaatg	12	4	2	3			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr1:52251509C>G	uc001cst.3	+	20	2096	c.1913C>G	c.(1912-1914)tCa>tGa	p.S638*	OSBPL9_uc001css.3_Nonsense_Mutation_p.S625*|OSBPL9_uc009vza.3_Nonsense_Mutation_p.S603*|OSBPL9_uc001csu.3_Nonsense_Mutation_p.S630*|OSBPL9_uc001csv.3_Nonsense_Mutation_p.S455*|OSBPL9_uc001csw.3_Nonsense_Mutation_p.S607*|OSBPL9_uc001csy.3_Nonsense_Mutation_p.S442*|OSBPL9_uc001csz.3_Nonsense_Mutation_p.S442*|OSBPL9_uc001cta.3_Nonsense_Mutation_p.S510*|OSBPL9_uc001ctb.3_Nonsense_Mutation_p.S405*	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA.	620					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCTTTTTGCTCAATTGAAGGG	0.378													4	62					0	0	1	0	0	G	52251509	C	G	52251509	4	3	83	1	0	0	0	0	0	1	0	0	11284	838	29	4	2045	4	OSBPL9	1	52251509	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		52251509	196999112	1	1479											
CRELD1	78987	broad.mit.edu	37	chr3	9976166	9976166	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagtcccagctatgctctGgggcctcagcctcttcctca	8	17	4	0			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr3:9976166G>A	uc003buf.3	+	1	143	c.44G>A	c.(43-45)tGg>tAg	p.W15*	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Nonsense_Mutation_p.W15*|CRELD1_uc003bug.3_Nonsense_Mutation_p.W15*	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	15	Pro-rich.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCTATGCTCTGGGGCCTCAGC	0.637													5	96					0	0	1	0	0	A	9976166	G	A	9976166	4	1	83	1	0	0	0	0	0	1	0	0	3866	1357	47	2	46	2	CRELD1	3	9976166	Nonsense_Mutation	SNP	G	TCGA-DJ-A2PR-01A-11D-A19J-08		9976166	188046264	2	1480											
SLC39A7	7922	broad.mit.edu	37	chr6	33171577	33171577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcatgatggtgctgattgCccaccttgagtgaggggtgg	15	7	1	4			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr6:33171577C>T	uc003odf.3	+	7	1514	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	RXRB_uc011dqr.2_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.A466V|SLC39A7_uc011dqv.2_Missense_Mutation_p.A341V|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	466				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGCTGATTGCCCACCTTGAG	0.597													23	54					0	0	1	0	0	T	33171577	C	T	33171577	3	4	83	1	0	0	0	0	1	0	0	0	14623	739	26	2	1423	2	SLC39A7	6	33171577	Missense_Mutation	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		33171577	137943490	3	1481											
AZGP1	563	broad.mit.edu	37	chr7	99569418	99569418	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctttcagggtctccataaaGatgtcctccctggccttctg	8	13	4	1			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr7:99569418G>C	uc003ush.3	-	1	380	c.288C>G	c.(286-288)atC>atG	p.I96M		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	96				Missing (in Ref. 9; AA sequence).	antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCTCCATAAAGATGTCCTCCC	0.517													6	118					0	0	1	0	0	C	99569418	G	C	99569418	3	2	83	1	0	0	0	0	1	0	0	0	1239	932	33	4	620	4	AZGP1	7	99569418	Missense_Mutation	SNP	G	TCGA-DJ-A2PR-01A-11D-A19J-08		99569418	59569245	4	1482											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				20	19					0	0	1	0	0	T	140453136	A	T	140453136	3	4	83	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PR-01A-11D-A19J-08	40883718	140453136	18685527	5	1483											
SUOX	6821	broad.mit.edu	37	chr12	56396496	56396496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttggcctatcaggaccatCggtgtagggtaagtagggaa	15	6	1	0			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr12:56396496C>T	uc001six.3	+	4	546	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	SUOX_uc009zoh.3_Missense_Mutation_p.R74W|SUOX_uc001siy.3_Missense_Mutation_p.R74W|SUOX_uc001siz.3_Missense_Mutation_p.R74W|SUOX_uc001sja.3_Missense_Mutation_p.R74W	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	74						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCAGGACCATCGGTGTAGGGT	0.562													20	78					0	0	1	0	0	T	56396496	C	T	56396496	3	4	83	1	0	0	0	0	1	0	0	0	15392	875	31	1	226	1	SUOX	12	56396496	Missense_Mutation	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		56396496	77455399	6	1484											
THBS1	7057	broad.mit.edu	37	chr15	39885603	39885603	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggctcttcttccaggttatGatgagtttaatgctgtggac	12	7	2	2			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr15:39885603G>A	uc001zkh.3	+	18	3180	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N	THBS1_uc010bbi.3_Missense_Mutation_p.D473N	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1001	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCCAGGTTATGATGAGTTTAA	0.498													17	415					0	0	1	0	0	A	39885603	G	A	39885603	3	1	83	1	0	0	0	0	1	0	0	0	15850	1290	45	2	3071	2	THBS1	15	39885603	Missense_Mutation	SNP	G	TCGA-DJ-A2PR-01A-11D-A19J-08		39885603	62645789	7	1485											
SETD1A	9739	broad.mit.edu	37	chr16	30990483	30990483	+	Frame_Shift_Del	DEL	C	C	-													caggccccacggaggagtcaCcccccagtgcgcctctgcgt							TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr16:30990483delC	uc002ead.1	+	13	4062	c.3376delC	c.(3376-3378)cccfs	p.P1126fs		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1126	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGAGGAGTCACCCCCCAGTGC	0.697													2	4	---	---	---	---						-	30990483	C	-	30990483	7	5	83	1	0	1	0	1	0	0	0	0	14130	507	18	0	3426	0	SETD1A	16	30990483	Frame_Shift_Del	DEL	C	TCGA-DJ-A2PR-01A-11D-A19J-08		30990483	59364270	8	1486											
MAP3K3	4215	broad.mit.edu	37	chr17	61762904	61762904	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcccctgagcagtgcagaaAattccttgtctggaagctgc	10	11	1	2			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr17:61762904A>T	uc002jbe.3	+	9	823	c.757A>T	c.(757-759)Aat>Tat	p.N253Y	MAP3K3_uc002jbf.3_Missense_Mutation_p.N253Y|MAP3K3_uc002jbg.3_Missense_Mutation_p.N222Y|MAP3K3_uc002jbh.3_Missense_Mutation_p.N253Y|MAP3K3_uc010wpo.2_Missense_Mutation_p.N137Y|MAP3K3_uc010wpp.2_Missense_Mutation_p.N222Y	NM_203351	NP_976226	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA.	222					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGTGCAGAAAATTCCTTGTC	0.512													32	62					0	0	1	0	0	T	61762904	A	T	61762904	3	4	83	1	0	0	0	0	1	0	0	0	9251	14	1	5	791	5	MAP3K3	17	61762904	Missense_Mutation	SNP	A	TCGA-DJ-A2PR-01A-11D-A19J-08		61762904	19432306	9	1487											
MYH14	79784	broad.mit.edu	37	chr19	50720898	50720898	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccggccttttctgtgtggtCatcaacccgtacaagcagct	9	13	3	0			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr19:50720898C>T	uc010enu.1	+	2	479	c.432C>T	c.(430-432)gtC>gtT	p.V144V	MYH14_uc002prq.1_Silent_p.V144V|MYH14_uc002prr.1_Silent_p.V144V	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	144	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCTGTGTGGTCATCAACCCGT	0.597													13	164					0	0	1	0	0	T	50720898	C	T	50720898	2	4	83	1	0	0	0	0	0	0	0	1	10033	813	29	2		2	MYH14	19	50720898	Silent	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		50720898	8408085	10	1488											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	84	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PS-01A-11D-A18F-08		140453136	18685527	1	1489											
DENND4C	55667	broad.mit.edu	37	chr9	19360258	19360258	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaggatcctttaggaaaaaGacccaatcctccccctgttt	6	12	0	1			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr9:19360258G>A	uc003znq.3	+	23	4402	c.4322G>A	c.(4321-4323)aGa>aAa	p.R1441K	DENND4C_uc011lnc.2_Missense_Mutation_p.R771K|DENND4C_uc011lnd.2_Missense_Mutation_p.R729K|DENND4C_uc003znr.3_Missense_Mutation_p.R729K|DENND4C_uc003zns.3_Missense_Mutation_p.R623K	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1441						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTAGGAAAAAGACCCAATCCT	0.363													5	149					0	0	1	0	0	A	19360258	G	A	19360258	3	1	84	1	0	0	0	0	1	0	0	0	4435	942	33	2	4416	2	DENND4C	9	19360258	Missense_Mutation	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		19360258	121853173	2	1490											
NUDT5	11164	broad.mit.edu	37	chr10	12215790	12215790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagagcagctgcttctggGgtttcaccatcatctatgag	12	10	4	2			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr10:12215790G>A	uc001ilj.3	-	5	728	c.312C>T	c.(310-312)acC>acT	p.T104T		NM_014142	NP_054861	Q9UKK9	NUDT5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 5 (NUDT5), mRNA.	104	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	p.E103K(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTGCTTCTGGGGTTTCACCAT	0.458													73	148					0	0	1	0	0	A	12215790	G	A	12215790	2	1	84	1	0	0	0	0	0	0	0	1	10742	1219	43	2		2	NUDT5	10	12215790	Silent	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		12215790	123318957	3	1491											
TSPAN4	7106	broad.mit.edu	37	chr11	865530	865530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagattgacaggtatgcccaGcaagacctgaagaaaggctt	11	9	0	5			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr11:865530G>A	uc001lsd.1	+	5	557	c.348G>A	c.(346-348)caG>caA	p.Q116Q	TSPAN4_uc001lse.1_Silent_p.Q52Q|TSPAN4_uc001lsf.1_Silent_p.Q116Q|TSPAN4_uc001lsg.1_Silent_p.Q116Q|TSPAN4_uc001lsh.1_Silent_p.Q116Q|TSPAN4_uc001lsi.1_Silent_p.Q116Q|TSPAN4_uc001lsj.1_Silent_p.Q116Q	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	116					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTATGCCCAGCAAGACCTGA	0.667													3	27					0	0	1	0	0	A	865530	G	A	865530	2	1	84	1	0	0	0	0	0	0	0	1	16646	962	34	2		2	TSPAN4	11	865530	Silent	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		865530	134140986	4	1492											
ARAP1	116985	broad.mit.edu	37	chr11	72406076	72406076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaatagtccttctcccTgatgcccacgttccggcgat	9	15	1	1			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr11:72406076T>C	uc001osu.3	-	26	3832	c.3643A>G	c.(3643-3645)Agg>Ggg	p.R1215G	ARAP1_uc001osv.3_Missense_Mutation_p.R1215G|ARAP1_uc001osr.3_Missense_Mutation_p.R975G|ARAP1_uc001oss.3_Missense_Mutation_p.R970G|ARAP1_uc009yth.3_Missense_Mutation_p.R909G|ARAP1_uc010rre.2_Missense_Mutation_p.R970G	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1215	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding	p.R975G(1)|p.R1215G(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCTTCTCCCTGATGCCCACG	0.587													3	31					0	0	1	0	0	C	72406076	T	C	72406076	3	2	84	1	0	0	0	0	1	0	0	0	838	1579	55	3	745	3	ARAP1	11	72406076	Missense_Mutation	SNP	T	TCGA-DJ-A2PS-01A-11D-A18F-08	71540546	72406076	62600440	5	1493											
RANBP2	5903	broad.mit.edu	37	chr2	109365442	109365442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagattgttgaaacttttgCcaacaaaagcgggcagtctg	11	7	1	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr2:109365442C>T	uc002tem.4	+	8	1256	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	377					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAACTTTTGCCAACAAAAGC	0.348													5	290					0	0	1	0	0	T	109365442	C	T	109365442	3	4	85	1	0	0	0	0	1	0	0	0	13028	739	26	2	1164	2	RANBP2	2	109365442	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		109365442	133833931	1	1494											
NCK1	4690	broad.mit.edu	37	chr3	136647064	136647064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaaaacctaaaggataCcttaggtaagatatttttta	7	4	0	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr3:136647064C>T	uc003erh.3	+	1	351	c.221C>T	c.(220-222)aCc>aTc	p.T74I	NCK1_uc011bme.2_5'Flank	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	74					T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTAAAGGATACCTTAGGTAAG	0.333													11	23					0	0	1	0	0	T	136647064	C	T	136647064	3	4	85	1	0	0	0	0	1	0	0	0	10219	507	18	2	223	2	NCK1	3	136647064	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		136647064	61375366	2	1495											
TPRG1	285386	broad.mit.edu	37	chr3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtctcttctgtcccGctggaacccatggtccactg	11	14	2	0			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr3:189028237G>A	uc003frv.2	+	9	1769	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_uc003frw.2_Missense_Mutation_p.R181H	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	181										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTTCTGTCCCGCTGGAACCCA	0.473													4	60					0	0	1	0	0	A	189028237	G	A	189028237	3	1	85	1	0	0	0	0	1	0	0	0	16415	1087	38	1	556	1	TPRG1	3	189028237	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	52381173	189028237	8994193	3	1496											
PRDM8	56978	broad.mit.edu	37	chr4	81124216	81124216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccgccgacggcgtgggcCccaccagactctatcccgcc	10	21	1	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr4:81124216C>T	uc010ijo.3	+	7	2439	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	PRDM8_uc003hmb.4_Missense_Mutation_p.P534S|PRDM8_uc003hmc.4_Missense_Mutation_p.P534S	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CGGCGTGGGCCCCACCAGACT	0.731													6	6					0	0	1	0	0	T	81124216	C	T	81124216	3	4	85	1	0	0	0	0	1	0	0	0	12462	623	22	2	1610	2	PRDM8	4	81124216	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		81124216	110030060	4	1497											
GPRIN3	285513	broad.mit.edu	37	chr4	90170054	90170054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttattttcccgttggaaaGctgtagactcagctgcagct	10	9	1	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr4:90170054G>T	uc003hsm.1	-	1	1727	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	GPRIN3_uc021xqb.1_Missense_Mutation_p.A403D	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	403										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCGTTGGAAAGCTGTAGACTC	0.532													7	127					0	0	1	0	0	T	90170054	G	T	90170054	3	4	85	1	0	0	0	0	1	0	0	0	6731	971	34	4	1126	4	GPRIN3	4	90170054	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	9045838	90170054	100984222	5	1498											
PCDHAC2	56134	broad.mit.edu	37	chr5	140237799	140237799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacactgcactgaggtgctcGgcggcgcccaccgagggcgc	15	15	0	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr5:140237799G>A	uc003lhx.2	+	0	2166	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.S722S	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGTGCTCGGCGGCGCCCA	0.662													15	27					0	0	1	0	0	A	140237799	G	A	140237799	2	1	85	1	0	0	0	0	0	0	0	1	11533	1103	39	1		1	PCDHAC2	5	140237799	Silent	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08		140237799	40677461	6	1499											
TBC1D7	51256	broad.mit.edu	37	chr6	13307947	13307947	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtcagcagtctgccatcttCcagattcaagtattgttcaa	7	10	5	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr6:13307947C>A	uc003naj.3	-	5	658	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Nonsense_Mutation_p.E184*|TBC1D7_uc003nan.3_Nonsense_Mutation_p.E184*|TBC1D7_uc003nam.3_Nonsense_Mutation_p.E184*|TBC1D7_uc003nao.3_Nonsense_Mutation_p.E157*|TBC1D7_uc010jpd.3_Nonsense_Mutation_p.E138*	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	184	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTGCCATCTTCCAGATTCAAG	0.423													15	54					0	0	1	0	0	A	13307947	C	A	13307947	4	1	85	1	0	0	0	0	0	1	0	0	15621	864	30	4	343	4	TBC1D7	6	13307947	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		13307947	157807120	7	1500											
TIAM2	26230	broad.mit.edu	37	chr6	155569232	155569232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcatcaagccggttcagAgagtgctcaagtacccgctg	10	13	4	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr6:155569232A>G	uc003qqb.3	+	21	5024	c.3751A>G	c.(3751-3753)Aga>Gga	p.R1251G	TIAM2_uc003qqe.3_Missense_Mutation_p.R1251G|TIAM2_uc010kjj.3_Missense_Mutation_p.R784G|TIAM2_uc003qqf.3_Missense_Mutation_p.R627G|TIAM2_uc011efl.1_Missense_Mutation_p.R587G|TIAM2_uc003qqg.3_Missense_Mutation_p.R563G|TIAM2_uc003qqh.3_Missense_Mutation_p.R176G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1251	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCCGGTTCAGAGAGTGCTCAA	0.607											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	65					0	0	1	0	0	G	155569232	A	G	155569232	3	3	85	1	0	0	0	0	1	0	0	0	15888	296	11	3	3817	3	TIAM2	6	155569232	Missense_Mutation	SNP	A	TCGA-DJ-A2PT-01A-11D-A18F-08	142261285	155569232	15545835	8	1501											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	54					0	0	1	0	0	T	140453136	A	T	140453136	3	4	85	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PT-01A-11D-A18F-08		140453136	18685527	9	1502											
PAOX	196743	broad.mit.edu	37	chr10	135202535	135202535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgtcggatgaagaagtActtctgtgtctcacccaagt	9	10	3	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr10:135202535A>G	uc001lmy.3	+	3	1024	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	PAOX_uc001lmv.3_Silent_p.V399V|PAOX_uc001lmx.3_Silent_p.V399V|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Non-coding_Transcript	NM_207127	NP_997010	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 4, mRNA.	0					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ATGAAGAAGTACTTCTGTGTC	0.527													7	218					0	0	1	0	0	G	135202535	A	G	135202535	3	3	85	1	0	0	0	0	1	0	0	0	11423	391	14	3	1215	3	PAOX	10	135202535	Missense_Mutation	SNP	A	TCGA-DJ-A2PT-01A-11D-A18F-08		135202535	332212	10	1503											
B3GAT1	27087	broad.mit.edu	37	chr11	134252734	134252734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgctgcagaatgagcCgcaggttgacggcaaatcca	13	11	0	3			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr11:134252734C>T	uc010scv.1	-	3	867	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	B3GAT1_uc001qhq.3_Missense_Mutation_p.R263Q|B3GAT1_uc001qhr.3_Missense_Mutation_p.R263Q	NM_054025	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 2, mRNA.	263					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(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)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CAGAATGAGCCGCAGGTTGAC	0.592													12	37					0	0	1	0	0	T	134252734	C	T	134252734	3	4	85	1	0	0	0	0	1	0	0	0	1253	652	23	1	224	1	B3GAT1	11	134252734	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		134252734	753782	11	1504											
CDCA3	83461	broad.mit.edu	37	chr12	6960070	6960070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagatgcttgttgtgcGgcggaggccgcgctggtgtg	19	9	0	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr12:6960070G>A	uc001qrg.2	-	1	175	c.47C>T	c.(46-48)cCg>cTg	p.P16L	CDCA3_uc001qre.2_Missense_Mutation_p.P16L|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.	16					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						CTTGTTGTGCGGCGGAGGCCG	0.662													3	37					0	0	1	0	0	A	6960070	G	A	6960070	3	1	85	1	0	0	0	0	1	0	0	0	3087	1116	39	1	779	1	CDCA3	12	6960070	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08		6960070	126891825	12	1505											
APAF1	317	broad.mit.edu	37	chr12	99042229	99042229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatggatcacatgattaGtgatggatttttaacaatat	7	5	2	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr12:99042229G>A	uc001tfz.3	+	1	669	c.92G>A	c.(91-93)aGt>aAt	p.S31N	APAF1_uc001tfy.3_Missense_Mutation_p.S31N|APAF1_uc001tga.3_Missense_Mutation_p.S31N|APAF1_uc001tgb.3_Missense_Mutation_p.S31N|APAF1_uc001tgc.3_Missense_Mutation_p.S31N	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	31	CARD.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CACATGATTAGTGATGGATTT	0.358													4	136					0	0	1	0	0	A	99042229	G	A	99042229	3	1	85	1	0	0	0	0	1	0	0	0	755	1029	36	2	94	2	APAF1	12	99042229	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	92082159	99042229	34809666	13	1506											
TRPM4	54795	broad.mit.edu	37	chr19	49684617	49684617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccagcctgtgggagcTcggaggcctcagcctacctg	12	15	1	0			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr19:49684617T>C	uc002pmw.3	+	9	1270	c.1162T>C	c.(1162-1164)Tcg>Ccg	p.S388P	TRPM4_uc010emu.3_Missense_Mutation_p.S388P|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.S214P|TRPM4_uc010emv.3_Missense_Mutation_p.S273P|TRPM4_uc010yal.2_Intron|TRPM4_uc002pmy.3_5'Flank	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	388					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGTGGGAGCTCGGAGGCCTC	0.557													3	99					0	0	1	0	0	C	49684617	T	C	49684617	3	2	85	1	0	0	0	0	1	0	0	0	16585	1551	54	3	1200	3	TRPM4	19	49684617	Missense_Mutation	SNP	T	TCGA-DJ-A2PT-01A-11D-A18F-08		49684617	9444366	14	1507											
TRMT6	51605	broad.mit.edu	37	chr20	5923212	5923212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattctcttgttcagaagcCtgtttttcctccagtgtgcc	7	12	3	1			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr20:5923212C>T	uc002wmh.1	-	6	1010	c.888G>A	c.(886-888)caG>caA	p.Q296Q	TRMT6_uc010zra.1_Silent_p.Q126Q|TRMT6_uc010gbn.1_Silent_p.Q126Q|TRMT6_uc010gbo.1_Non-coding_Transcript	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	296					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GTTCAGAAGCCTGTTTTTCCT	0.443													15	50					0	0	1	0	0	T	5923212	C	T	5923212	2	4	85	1	0	0	0	0	0	0	0	1	16565	680	24	2		2	TRMT6	20	5923212	Silent	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		5923212	57102308	15	1508											
CBFA2T2	9139	broad.mit.edu	37	chr20	32199070	32199070	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgaaacgctttcttaccactCtgcaacagtttggcaatgac	7	11	2	2			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr20:32199070C>G	uc002wzg.1	+	3	913	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.L117V|CBFA2T2_uc021wbz.1_Missense_Mutation_p.L97V|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.L97V|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	126	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCTTACCACTCTGCAACAGTT	0.507													29	112					0	0	1	0	0	G	32199070	C	G	32199070	3	3	85	1	0	0	0	0	1	0	0	0	2697	912	32	4	424	4	CBFA2T2	20	32199070	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08	26275858	32199070	30826450	16	1509											
GPM6B	2824	broad.mit.edu	37	chrX	13798077	13798077	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaacacacccagccagGccactccaagcacataggtg	7	16	0	0			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chrX:13798077G>C	uc004cvw.3	-	4	848	c.557C>G	c.(556-558)gCc>gGc	p.A186G	GPM6B_uc004cvx.3_Missense_Mutation_p.A127G|GPM6B_uc011min.1_Missense_Mutation_p.A60G|GPM6B_uc004cwa.2_Missense_Mutation_p.A127G|GPM6B_uc011mim.2_Missense_Mutation_p.A160G|GPM6B_uc004cvy.2_Missense_Mutation_p.A186G|GPM6B_uc004cvz.2_Missense_Mutation_p.A146G	NM_001001995	NP_001001995	Q13491	GPM6B_HUMAN	Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.	146					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACCCAGCCAGGCCACTCCAAG	0.493													9	92					0	0	1	0	0	C	13798077	G	C	13798077	3	2	85	1	0	0	0	0	1	0	0	0	6616	1203	42	4	530	4	GPM6B	23	13798077	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08		13798077	141472483	17	1510											
SPTBN1	6711	broad.mit.edu	37	chr2	54856728	54856728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcatgccgagtctccagaCgtgaggggcaggctgtcggg	18	10	1	2			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:54856728C>A	uc002rxu.3	+	13	2706	c.2457C>A	c.(2455-2457)gaC>gaA	p.D819E	SPTBN1_uc002rxv.1_Missense_Mutation_p.D819E|SPTBN1_uc002rxx.3_Missense_Mutation_p.D806E	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	819					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGTCTCCAGACGTGAGGGGCA	0.637													28	45					0	0	1	0	0	A	54856728	C	A	54856728	3	1	86	1	0	0	0	0	1	0	0	0	15118	535	19	4	2620	4	SPTBN1	2	54856728	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08		54856728	188342645	1	1511											
DTYMK	1841	broad.mit.edu	37	chr2	242617953	242617953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgttctcatagcgctcatGgccaaacgctccccgcttgg	9	17	2	0			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:242617953G>T	uc002wbz.2	-	3	627	c.442C>A	c.(442-444)Cat>Aat	p.H148N	DTYMK_uc010zpa.2_Missense_Mutation_p.H124N|DTYMK_uc002wca.2_Non-coding_Transcript|DTYMK_uc010zpb.2_Non-coding_Transcript|DTYMK_uc002wcb.1_5'Flank	NM_012145	NP_036277	P23919	KTHY_HUMAN	Homo sapiens deoxythymidylate kinase (thymidylate kinase) (DTYMK), transcript variant 1, mRNA.	148					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TAGCGCTCATGGCCAAACGCT	0.577													33	45					0	0	1	0	0	T	242617953	G	T	242617953	3	4	86	1	0	0	0	0	1	0	0	0	4798	1348	47	4	204	4	DTYMK	2	242617953	Missense_Mutation	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08	187761225	242617953	581420	2	1512											
ENPEP	2028	broad.mit.edu	37	chr4	111434693	111434693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctgtttttgatggaatAtcctatagcaaggtgggaga	11	5	1	2			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr4:111434693A>G	uc003iab.4	+	6	1773	c.1431A>G	c.(1429-1431)atA>atG	p.I477M		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	477					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTGATGGAATATCCTATAGCA	0.353													45	56					0	0	1	0	0	G	111434693	A	G	111434693	3	3	86	1	0	0	0	0	1	0	0	0	5128	439	16	3	1457	3	ENPEP	4	111434693	Missense_Mutation	SNP	A	TCGA-DJ-A2PU-01A-12D-A19J-08		111434693	79719583	3	1513											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	47					0	0	1	0	0	T	140453136	A	T	140453136	3	4	86	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PU-01A-12D-A19J-08		140453136	18685527	4	1514											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201890	67201890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgatacccgcttcacaCggcagacgccggtggacagt	12	12	1	2			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr11:67201890C>T	uc001old.3	+	12	1172	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	RPS6KB2_uc021qmi.1_Missense_Mutation_p.R87W	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	364	AGC-kinase C-terminal.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCGCTTCACACGGCAGACGCC	0.642													5	51					0	0	1	0	0	T	67201890	C	T	67201890	3	4	86	1	0	0	0	0	1	0	0	0	13657	527	19	1	1140	1	RPS6KB2	11	67201890	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08		67201890	67804626	5	1515											
GLOD4	51031	broad.mit.edu	37	chr17	679033	679033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgactgaggcagactgcGattctgcaaatagaacttat	9	9	1	4			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr17:679033G>A	uc002frv.3	-	4	509	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	GLOD4_uc002frt.3_Missense_Mutation_p.R74C|GLOD4_uc002fru.3_Missense_Mutation_p.R130C|GLOD4_uc010vqc.2_Missense_Mutation_p.R121C	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.	145						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGCAGACTGCGATTCTGCAAA	0.483													22	62					0	0	1	0	0	A	679033	G	A	679033	3	1	86	1	0	0	0	0	1	0	0	0	6450	1058	37	1	532	1	GLOD4	17	679033	Missense_Mutation	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08		679033	80516177	6	1516											
UBE2O	63893	broad.mit.edu	37	chr17	74392381	74392381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgtcgggcactgcttcCatcttctcctcctctacaat	5	16	4	0			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr17:74392381C>T	uc002jrm.4	-	13	2702	c.2637G>A	c.(2635-2637)atG>atA	p.M879I	UBE2O_uc002jrn.4_Missense_Mutation_p.M879I|UBE2O_uc002jrl.4_Missense_Mutation_p.M483I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	879							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCACTGCTTCCATCTTCTCCT	0.562													15	190					0	0	1	0	0	T	74392381	C	T	74392381	3	4	86	1	0	0	0	0	1	0	0	0	16865	594	21	2	1261	2	UBE2O	17	74392381	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08	73713348	74392381	6802829	7	1517											
SMARCA4	6597	broad.mit.edu	37	chr19	11132573	11132573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcaacttcctgctgcCcaccatcttcaagagctgca	7	16	3	1			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr19:11132573C>T	uc010dxo.3	+	18	3073	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	SMARCA4_uc010dxp.3_Missense_Mutation_p.P930L|SMARCA4_uc002mqf.4_Missense_Mutation_p.P930L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P930L|SMARCA4_uc010dxq.3_Missense_Mutation_p.P930L|SMARCA4_uc010dxr.3_Missense_Mutation_p.P930L|SMARCA4_uc002mqj.4_Missense_Mutation_p.P930L|SMARCA4_uc010dxs.3_Missense_Mutation_p.P930L|SMARCA4_uc010dxt.1_Missense_Mutation_p.P150L|SMARCA4_uc002mqh.4_Missense_Mutation_p.P53L|SMARCA4_uc002mqi.1_Missense_Mutation_p.P133L	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 1, mRNA.	930	Helicase ATP-binding.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCCTGCTGCCCACCATCTTC	0.612			"F, N, Mis"		NSCLC								3	46					0	0	1	0	0	T	11132573	C	T	11132573	3	4	86	1	0	0	0	0	1	0	0	0	14770	623	22	2	2859	2	SMARCA4	19	11132573	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08		11132573	47996410	8	1518											
ZNF90	7643	broad.mit.edu	37	chr19	20236262	20236262	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtttggaggtcctggtgCccgtgcttgctaccagaaat	12	9	0	1			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr19:20236262C>T	uc021url.1	+	2		c.686C>T						Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GGTCCTGGTGCCCGTGCTTGC	0.458													3	39					0	0	1	0	0	T	20236262	C	T	20236262	1	4	86	0	1	0	0	0	0	0	0	0	18196	754	26	2		2	ZNF90	19	20236262	RNA	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08	9103689	20236262	38892721	9	1519											
PLAC1	10761	broad.mit.edu	37	chrX	133700185	133700185	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcccctgcttggtgacaaggGacctgggtatgctcttcttc	12	12	2	1			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chrX:133700185G>T	uc004exo.1	-	2	814	c.528C>A	c.(526-528)gtC>gtA	p.V176V	PLAC1_uc004exp.1_Silent_p.V176V|PLAC1_uc022cei.1_Silent_p.V176V	NM_021796	NP_068568	Q9HBJ0	PLAC1_HUMAN	Homo sapiens placenta-specific 1 (PLAC1), mRNA.	176					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GGTGACAAGGGACCTGGGTAT	0.488													5	95					0	0	1	0	0	T	133700185	G	T	133700185	2	4	86	1	0	0	0	0	0	0	0	1	12012	1161	41	4		4	PLAC1	23	133700185	Silent	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08		133700185	21570375	10	1520											
ABCD1	215	broad.mit.edu	37	chrX	153001964	153001964	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagggccccctgaagatcCgaggtaaggctgtcccctcc	13	14	0	2	rs128624221		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chrX:153001964C>T	uc004fif.2	+	3	1789	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	464					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAAGATCCGAGGTAAGGC	0.657													3	20					0	0	1	0	0	T	153001964	C	T	153001964	4	4	86	1	0	0	0	0	0	1	0	0	60	644	23	1	1404	1	ABCD1	23	153001964	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08	19301779	153001964	2268596	11	1521											
HEATR1	55127	broad.mit.edu	37	chr1	236719122	236719122	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcagagtgctgggctcGgaagtccagggcttccagga	14	11	1	1			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr1:236719122G>A	uc001hyd.2	-	38	5784	c.5632C>T	c.(5632-5634)Cga>Tga	p.R1878*	HEATR1_uc009xgh.2_Nonsense_Mutation_p.R1040*	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1878					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCTGGGCTCGGAAGTCCAGG	0.493													40	86					0	0	1	0	0	A	236719122	G	A	236719122	4	1	87	1	0	0	0	0	0	1	0	0	7027	1124	39	1	830	1	HEATR1	1	236719122	Nonsense_Mutation	SNP	G	TCGA-DJ-A2PV-01A-11D-A19J-08		236719122	12531499	1	1522											
APOB	338	broad.mit.edu	37	chr2	21236165	21236165	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacaagttgctgtagacAttcgtggagaggtctagaac	12	6	1	3			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr2:21236165A>T	uc002red.3	-	24	4211	c.4083T>A	c.(4081-4083)aaT>aaA	p.N1361K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1361					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.N1361N(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTGTAGACATTCGTGGAGA	0.512													46	102					0	0	1	0	0	T	21236165	A	T	21236165	3	4	87	1	0	0	0	0	1	0	0	0	785	214	8	5	9628	5	APOB	2	21236165	Missense_Mutation	SNP	A	TCGA-DJ-A2PV-01A-11D-A19J-08		21236165	221963208	2	1523											
PARP8	79668	broad.mit.edu	37	chr5	50091188	50091188	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacgcagagggcaggaggctCtctcttacctcagggcttat	12	11	3	1			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr5:50091188C>G	uc003jon.4	+	12	1547	c.1365C>G	c.(1363-1365)ctC>ctG	p.L455L	PARP8_uc011cpz.2_Silent_p.L347L|PARP8_uc003joo.3_Silent_p.L455L|PARP8_uc003jop.3_Silent_p.L455L	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	455						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCAGGAGGCTCTCTCTTACCT	0.433													4	60					0	0	1	0	0	G	50091188	C	G	50091188	2	3	87	1	0	0	0	0	0	0	0	1	11465	900	32	4		4	PARP8	5	50091188	Silent	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08		50091188	130824072	3	1524											
RIOK1	83732	broad.mit.edu	37	chr6	7404673	7404673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaccactcttgaaaaatGtccagttatcagaatccaag	6	11	2	2			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr6:7404673G>A	uc003mxn.3	+	9	1051	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	RIOK1_uc003mxo.3_Missense_Mutation_p.V52I	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	293	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTTGAAAAATGTCCAGTTATC	0.418													11	104					0	0	1	0	0	A	7404673	G	A	7404673	3	1	87	1	0	0	0	0	1	0	0	0	13377	1377	48	2	915	2	RIOK1	6	7404673	Missense_Mutation	SNP	G	TCGA-DJ-A2PV-01A-11D-A19J-08		7404673	163710394	4	1525											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	47					0	0	1	0	0	T	140453136	A	T	140453136	3	4	87	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PV-01A-11D-A19J-08		140453136	18685527	5	1526											
CD163	9332	broad.mit.edu	37	chr12	7640177	7640177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttctatgtcccagtgagAgttacagagggatccccagg	11	10	2	2			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr12:7640177A>G	uc001qsz.3	-	7	1956	c.1828T>C	c.(1828-1830)Tct>Cct	p.S610P	CD163_uc001qta.3_Missense_Mutation_p.S610P|CD163_uc009zfw.2_Missense_Mutation_p.S643P	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	610	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCCAGTGAGAGTTACAGAGG	0.517													9	91					0	0	1	0	0	G	7640177	A	G	7640177	3	3	87	1	0	0	0	0	1	0	0	0	2967	304	11	3	1678	3	CD163	12	7640177	Missense_Mutation	SNP	A	TCGA-DJ-A2PV-01A-11D-A19J-08		7640177	126211718	6	1527											
GATC	283459	broad.mit.edu	37	chr12	120897756	120897756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagagccattcccacaCagctgagtagctcattctgg	9	12	2	2			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr12:120897756C>T	uc010szi.2	+	3	448	c.405C>T	c.(403-405)caC>caT	p.H135H	GATC_uc021rev.1_Non-coding_Transcript	NM_176818	NP_789788	O43716	GATCL_HUMAN	Homo sapiens glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) (GATC), transcript variant 1, mRNA.	135					regulation of translational fidelity			p.H135Q(2)		breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTCCCACACAGCTGAGTAG	0.353													9	33					0	0	1	0	0	T	120897756	C	T	120897756	2	4	87	1	0	0	0	0	0	0	0	1	6262	477	17	2		2	GATC	12	120897756	Silent	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08	113257579	120897756	12954139	7	1528											
ANP32A	8125	broad.mit.edu	37	chr15	69072764	69072764	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cataccaccaagctcttcttCatcttcctcgtcatctacct	2	17	6	0			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr15:69072764C>T	uc002arl.3	-	5	844	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K		NM_006305	NP_006296	P39687	AN32A_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A (ANP32A), mRNA.	225	Asp/Glu-rich (highly acidic).|Interaction with E4F1 (By similarity).				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						AGCTCTTCTTCATCTTCCTCG	0.498													6	41					0	0	1	0	0	T	69072764	C	T	69072764	3	4	87	1	0	0	0	0	1	0	0	0	705	835	29	2	84	2	ANP32A	15	69072764	Missense_Mutation	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08		69072764	33458628	8	1529											
AKT2	208	broad.mit.edu	37	chr19	40745948	40745948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaaggggagggcaacTcacagtgaggaacgggtgcc	18	8	2	1			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr19:40745948T>C	uc010xvk.1	-	6	951	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	AKT2_uc010egs.3_Intron|AKT2_uc002onf.3_Intron|AKT2_uc010xvj.2_Intron|AKT2_uc010egt.3_Intron|AKT2_uc010egu.2_Intron|AKT2_uc002one.3_Intron	NM_001626	NP_001617	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	0	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGAGGGCAACTCACAGTGAGG	0.597			A		"ovarian, pancreatic "								40	87					0	0	1	0	0	C	40745948	T	C	40745948	3	2	87	1	0	0	0	0	1	0	0	0	480	1566	54	3		3	AKT2	19	40745948	Missense_Mutation	SNP	T	TCGA-DJ-A2PV-01A-11D-A19J-08		40745948	18383035	9	1530											
RALGAPA2	57186	broad.mit.edu	37	chr20	20582429	20582429	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggtcacatctgggtggctCcgccagctgagagaaaagga	14	10	2	2			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr20:20582429C>T	uc002wrz.3	-	15	2243	c.2100G>A	c.(2098-2100)cgG>cgA	p.R700R	RALGAPA2_uc002wry.3_Silent_p.R315R|RALGAPA2_uc010zsg.2_Silent_p.R101R	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	700					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.R700R(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGGGTGGCTCCGCCAGCTGA	0.488													4	26					0	0	1	0	0	T	20582429	C	T	20582429	2	4	87	1	0	0	0	0	0	0	0	1	13014	842	30	2		2	RALGAPA2	20	20582429	Silent	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08		20582429	42443091	10	1531											
FHL3	2275	broad.mit.edu	37	chr1	38465013	38465013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcacacagtaggggccGctgtctgtctggatgtactt	14	10	2	0			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr1:38465013G>A	uc001cck.3	-	1	251	c.72C>T	c.(70-72)agC>agT	p.S24S	FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Silent_p.S24S	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	24					muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTAGGGGCCGCTGTCTGTCT	0.547													7	49					0	0	1	0	0	A	38465013	G	A	38465013	2	1	88	1	0	0	0	0	0	0	0	1	5880	1078	38	1		1	FHL3	1	38465013	Silent	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		38465013	210785608	1	1532											
AKR1A1	10327	broad.mit.edu	37	chr1	46032687	46032687	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgcactggccttatgcCtttgagtgagccttgccaga	11	11	0	4			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr1:46032687C>G	uc021omx.1	+	5	769	c.351C>G	c.(349-351)gcC>gcG	p.A117A	AKR1A1_uc009vxw.3_Silent_p.A117A|AKR1A1_uc021omy.1_Silent_p.A117A|AKR1A1_uc001cod.3_Silent_p.A117A|AKR1A1_uc001coe.3_Silent_p.A117A|AKR1A1_uc001cof.3_5'Flank	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	117					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GGCCTTATGCCTTTGAGTGAG	0.557													3	50					0	0	1	0	0	G	46032687	C	G	46032687	2	3	88	1	0	0	0	0	0	0	0	1	465	668	24	4		4	AKR1A1	1	46032687	Silent	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	7567674	46032687	203217934	2	1533											
LRRN1	57633	broad.mit.edu	37	chr3	3887996	3887996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcaaacttaaaatggtcGtctgccaccatgaagattga	8	9	2	3			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr3:3887996G>A	uc003bpt.4	+	1	2432	c.1671G>A	c.(1669-1671)tcG>tcA	p.S557S	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.S557S	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	557	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAAAATGGTCGTCTGCCACCA	0.443													32	163					0	0	1	0	0	A	3887996	G	A	3887996	2	1	88	1	0	0	0	0	0	0	0	1	9034	1132	40	1		1	LRRN1	3	3887996	Silent	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		3887996	194134434	3	1534											
ZNF621	285268	broad.mit.edu	37	chr3	40573621	40573621	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaggaggacttctcaggaaCgtttctcagcactttgattt	10	8	2	1			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr3:40573621C>G	uc003ckm.2	+	4	576	c.360C>G	c.(358-360)aaC>aaG	p.N120K	ZNF621_uc003ckn.2_Missense_Mutation_p.N120K|ZNF621_uc003cko.2_Missense_Mutation_p.N85K|ZNF621_uc011aze.1_Missense_Mutation_p.N112K	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TTCTCAGGAACGTTTCTCAGC	0.413													9	74					0	0	1	0	0	G	40573621	C	G	40573621	3	3	88	1	0	0	0	0	1	0	0	0	18042	535	19	4	374	4	ZNF621	3	40573621	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	36685625	40573621	157448809	4	1535											
PPAT	5471	broad.mit.edu	37	chr4	57301543	57301543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccccacgagtcccagaGtgatcacatgcggtacatcc	10	15	1	2			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr4:57301543G>A	uc003hbr.3	-	0	260	c.101C>T	c.(100-102)aCt>aTt	p.T34I	PAICS_uc003hbs.1_5'Flank|PAICS_uc011cac.1_5'Flank|PAICS_uc003hbt.1_5'Flank|PAICS_uc003hbu.1_5'Flank|PAICS_uc010ihd.1_5'Flank	NM_002703	NP_002694	Q06203	PUR1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	34	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	GAGTCCCAGAGTGATCACATG	0.652													18	83					0	0	1	0	0	A	57301543	G	A	57301543	3	1	88	1	0	0	0	0	1	0	0	0	12302	1029	36	2	1496	2	PPAT	4	57301543	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		57301543	133852733	5	1536											
ANP32C	23520	broad.mit.edu	37	chr4	165118482	165118482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagcttgaacacgttttctcCgtagtcgttcaggttggtta	10	8	2	1			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr4:165118482C>G	uc011cjk.2	-	0	382	c.382G>C	c.(382-384)Gga>Cga	p.G128R	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	128								p.G128*(2)|p.G128E(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ACGTTTTCTCCGTAGTCGTTC	0.458													30	103					0	0	1	0	0	G	165118482	C	G	165118482	3	3	88	1	0	0	0	0	1	0	0	0	707	661	23	4	325	4	ANP32C	4	165118482	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	107816939	165118482	26035794	6	1537											
OCLN	100506658	broad.mit.edu	37	chr5	70378643	70378643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcatcacaggactcgccaCcagttgtgtagtctgtctca	9	13	4	0			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr5:70378643C>A	uc011cru.1	-	1	201	c.133G>T	c.(133-135)Gtg>Ttg	p.V45L	NAIP_uc003kat.1_Intron	NM_001205255	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 3, mRNA.	0					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGACTCGCCACCAGTTGTGTA	0.498													7	24					0	0	1	0	0	A	70378643	C	A	70378643	3	1	88	1	0	0	0	0	1	0	0	0	10820	522	18	4		4	OCLN	5	70378643	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08		70378643	110536617	7	1538											
PEX7	5191	broad.mit.edu	37	chr6	137147485	137147485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgatggtttgtttgatGtgacttggagtgagaacaac	14	3	0	4			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr6:137147485G>A	uc003qhd.3	+	2	319	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	PEX7_uc010kgx.3_Non-coding_Transcript	NM_000288	NP_000279	O00628	PEX7_HUMAN	Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.	73					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTTGTTTGATGTGACTTGGAG	0.438													17	149					0	0	1	0	0	A	137147485	G	A	137147485	3	1	88	1	0	0	0	0	1	0	0	0	11751	1377	48	2	227	2	PEX7	6	137147485	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		137147485	33967582	8	1539											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	35					0	0	1	0	0	T	140453136	A	T	140453136	3	4	88	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		140453136	18685527	9	1540											
MLL3	58508	broad.mit.edu	37	chr7	151859891	151859891	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattatatcagaatacaactGaatgagcgattgggttgatc	10	5	1	4			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr7:151859891G>A	uc003wla.3	-	42	10990	c.10771C>T	c.(10771-10773)Cag>Tag	p.Q3591*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q2652*|MLL3_uc003wky.3_Nonsense_Mutation_p.Q1100*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3591					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GAATACAACTGAATGAGCGAT	0.433			N		medulloblastoma								5	52					0	0	1	0	0	A	151859891	G	A	151859891	4	1	88	1	0	0	0	0	0	1	0	0	9622	1299	45	2	4032	2	MLL3	7	151859891	Nonsense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08	11406755	151859891	7278772	10	1541											
GPR124	25960	broad.mit.edu	37	chr8	37693223	37693223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacagcaacacctcccGccctggagctgctgggcctg	11	18	0	0	rs142661492	by1000genomes	TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr8:37693223G>A	uc003xkj.3	+	12	2371	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	662					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AACACCTCCCGCCCTGGAGCT	0.682													9	82					0	0	1	0	0	A	37693223	G	A	37693223	3	1	88	1	0	0	0	0	1	0	0	0	6638	1087	38	1	2014	1	GPR124	8	37693223	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		37693223	108670799	11	1542											
HOOK3	84376	broad.mit.edu	37	chr8	42819533	42819533	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagactcaatcaatctgattCtatagaagaccctaacagtc	5	10	4	4			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr8:42819533C>G	uc003xpr.3	+	8	937	c.695C>G	c.(694-696)tCt>tGt	p.S232C	HOOK3_uc010lxq.1_Missense_Mutation_p.S232C	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.	232					Golgi localization|cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	FHF complex|cis-Golgi network|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAATCTGATTCTATAGAAGAC	0.413			T	RET	papillary thyroid								34	34					0	0	1	0	0	G	42819533	C	G	42819533	3	3	88	1	0	0	0	0	1	0	0	0	7284	913	32	4	729	4	HOOK3	8	42819533	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	5126310	42819533	103544489	12	1543											
CSMD3	114788	broad.mit.edu	37	chr8	113418891	113418891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgactgcaaattcattgcCaattcttcttccgaatcttg	5	12	4	0			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr8:113418891C>T	uc003ynu.3	-	34	5830	c.5671G>A	c.(5671-5673)Ggc>Agc	p.G1891S	CSMD3_uc003yns.3_Missense_Mutation_p.G1093S|CSMD3_uc003ynt.3_Missense_Mutation_p.G1851S|CSMD3_uc011lhx.2_Missense_Mutation_p.G1787S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1891	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTCATTGCCAATTCTTCTT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	79					0	0	1	0	0	T	113418891	C	T	113418891	3	4	88	1	0	0	0	0	1	0	0	0	3946	594	21	2	5600	2	CSMD3	8	113418891	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	70599358	113418891	32945131	13	1544											
FAM63B	54629	broad.mit.edu	37	chr15	59113964	59113964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagctacaaccaactaGtggagaagatcatctcttgt	8	10	2	2			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr15:59113964G>A	uc002afj.3	+	4	1373	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	FAM63B_uc002afi.3_Missense_Mutation_p.V391M|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	391										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CAACCAACTAGTGGAGAAGAT	0.388													7	46					0	0	1	0	0	A	59113964	G	A	59113964	3	1	88	1	0	0	0	0	1	0	0	0	5597	1029	36	2	1189	2	FAM63B	15	59113964	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		59113964	43417428	14	1545											
PPM1D	8493	broad.mit.edu	37	chr17	58740817	58740818	+	Frame_Shift_Del	DEL	CT	CT	-													acaacctcacagcgaaagaaCtctgttaaactcaccatgcg							TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr17:58740817_58740818delCT	uc002iyt.2	+	5	1954_1955	c.1722_1723delCT	c.(1720-1725)aactctfs	p.N574fs	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	574					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGCGAAAGAACTCTGTTAAACT	0.465											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	22	75	---	---	---	---						-	58740818	CT	-	58740817	7	5	88	1	0	1	0	1	0	0	0	0	12337	564	20	0	1744	0	PPM1D	17	58740817	Frame_Shift_Del	DEL	CT	TCGA-DJ-A2PW-01A-11D-A19J-08		58740817	22454393	15	1546											
ZNF345	25850	broad.mit.edu	37	chr19	37368055	37368055	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcaaaccttgcttaccAtcaaagaattcatactggtg	8	9	2	1			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr19:37368055A>T	uc002oex.3	+	2	704	c.323A>T	c.(322-324)cAt>cTt	p.H108L	ZNF345_uc021utn.1_Missense_Mutation_p.H108L|ZNF345_uc002oey.4_Missense_Mutation_p.H108L|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.H108L|ZNF345_uc021utp.1_Missense_Mutation_p.H108L|ZNF345_uc021utq.1_Missense_Mutation_p.H108L	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	108					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGCTTACCATCAAAGAATT	0.423													10	36					0	0	1	0	0	T	37368055	A	T	37368055	3	4	88	1	0	0	0	0	1	0	0	0	17856	217	8	5	325	5	ZNF345	19	37368055	Missense_Mutation	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		37368055	21760928	16	1547											
TRPM4	54795	broad.mit.edu	37	chr19	49713617	49713617	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaggcaattgtgcaggCgaccccggagcccccagccg	13	16	1	0			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr19:49713617C>T	uc002pmw.3	+	20	3391	c.3283C>T	c.(3283-3285)Cga>Tga	p.R1095*	TRPM4_uc010emu.3_Nonsense_Mutation_p.R950*|TRPM4_uc010yak.2_Nonsense_Mutation_p.R559*|TRPM4_uc002pmx.3_Nonsense_Mutation_p.R921*|TRPM4_uc010emv.3_Nonsense_Mutation_p.R980*|TRPM4_uc010yal.2_Nonsense_Mutation_p.R741*|TRPM4_uc002pmy.3_Nonsense_Mutation_p.R437*	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1095	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.R1095*(2)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		ATTGTGCAGGCGACCCCGGAG	0.622													7	48					0	0	1	0	0	T	49713617	C	T	49713617	4	4	88	1	0	0	0	0	0	1	0	0	16585	760	27	1	3365	1	TRPM4	19	49713617	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	12345562	49713617	9415366	17	1548											
IL11	3589	broad.mit.edu	37	chr19	55877466	55877466	+	Frame_Shift_Del	DEL	C	C	-													tggcgtgggcggccctgatgCccccccaggctgaggagggg							TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr19:55877466delC	uc002qks.1	-	4	645	c.509delG	c.(508-510)ggcfs	p.G170fs	FAM71E2_uc002qkr.2_5'Flank|FAM71E2_uc002qkq.2_5'Flank|IL11_uc010yfx.1_Frame_Shift_Del_p.G91fs	NM_000641	NP_000632	P20809	IL11_HUMAN	Homo sapiens interleukin 11 (IL11), mRNA.	170					B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	GGCCCTGATGCCCCCCCAGGC	0.746													2	4	---	---	---	---						-	55877466	C	-	55877466	7	5	88	1	0	1	0	1	0	0	0	0	7622	739	26	0	94	0	IL11	19	55877466	Frame_Shift_Del	DEL	C	TCGA-DJ-A2PW-01A-11D-A19J-08	6163849	55877466	3251517	18	1549											
TNRC6B	23112	broad.mit.edu	37	chr22	40719206	40719206	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccctgctcctttactAcctggtgaccttctgggagg	12	13	1	1			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr22:40719206A>T	uc011aor.2	+	22	5674	c.5463A>T	c.(5461-5463)ctA>ctT	p.L1821L	TNRC6B_uc003aym.3_Silent_p.L1017L|TNRC6B_uc003ayn.4_Silent_p.L1711L	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1821					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CTCCTTTACTACCTGGTGACC	0.517													4	41					0	0	1	0	0	T	40719206	A	T	40719206	2	4	88	1	0	0	0	0	0	0	0	1	16338	378	14	5		5	TNRC6B	22	40719206	Silent	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		40719206	10585360	19	1550											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698454	17698454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaattatttataatccaaCaatttcctctatttcttctc	1	10	3	0			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr2:17698454C>T	uc002rcl.1	-	0	1253	c.1229G>A	c.(1228-1230)tGt>tAt	p.C410Y	RAD51AP2_uc010exn.1_Missense_Mutation_p.C401Y	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	410										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATAATCCAACAATTTCCTCT	0.313													13	47					0	0	1	0	0	T	17698454	C	T	17698454	3	4	89	1	0	0	0	0	1	0	0	0	12987	478	17	2	2262	2	RAD51AP2	2	17698454	Missense_Mutation	SNP	C	TCGA-DJ-A2PX-01A-11D-A18F-08		17698454	225500919	1	1551											
HEPACAM2	253012	broad.mit.edu	37	chr7	92821645	92821645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaatcttgccccgatacaCaatcagaggctggaacagac	9	12	2	2			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr7:92821645C>A	uc011khy.2	-	9	1399	c.1376G>T	c.(1375-1377)tGt>tTt	p.C459F	HEPACAM2_uc003uml.3_Missense_Mutation_p.C424F|HEPACAM2_uc010lff.3_Missense_Mutation_p.V416L|HEPACAM2_uc003umm.3_Missense_Mutation_p.C436F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	436						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CCCCGATACACAATCAGAGGC	0.398													22	73					0	0	1	0	0	A	92821645	C	A	92821645	3	1	89	1	0	0	0	0	1	0	0	0	7053	478	17	4	89	4	HEPACAM2	7	92821645	Missense_Mutation	SNP	C	TCGA-DJ-A2PX-01A-11D-A18F-08		92821645	66317018	2	1552											
FAT3	120114	broad.mit.edu	37	chr11	92258019	92258019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtatctgtcattcagatccAggctgaagatcctgactcca	8	12	3	4			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr11:92258019A>G	uc001pdj.4	+	1	3529	c.3512A>G	c.(3511-3513)cAg>cGg	p.Q1171R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1171	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCAGATCCAGGCTGAAGAT	0.403										TCGA Ovarian(4;0.039)			3	43					0	0	1	0	0	G	92258019	A	G	92258019	3	3	89	1	0	0	0	0	1	0	0	0	5691	188	7	3	3518	3	FAT3	11	92258019	Missense_Mutation	SNP	A	TCGA-DJ-A2PX-01A-11D-A18F-08		92258019	42748497	3	1553											
CYP11A1	1583	broad.mit.edu	37	chr15	74630341	74630341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttgcttcctggttaaagGgccagaaggtgaaggagatg	17	5	0	3			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr15:74630341G>A	uc002axt.2	-	8	1693	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	CYP11A1_uc002axs.2_Missense_Mutation_p.P355L|CYP11A1_uc010bjm.1_Missense_Mutation_p.P355L|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	513					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGGTTAAAGGGCCAGAAGGT	0.552													16	40					0	0	1	0	0	A	74630341	G	A	74630341	3	1	89	1	0	0	0	0	1	0	0	0	4144	1232	43	2	31	2	CYP11A1	15	74630341	Missense_Mutation	SNP	G	TCGA-DJ-A2PX-01A-11D-A18F-08		74630341	27901051	4	1554											
ZNF280B	140883	broad.mit.edu	37	chr22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaattttgagacaaaAgggacaaagcaaattctttg	8	4	1	2			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr22:22842418A>G	uc002zwc.1	-	3	2082	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	abParts_uc021wml.1_Splice_Site|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.F436L	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428													3	114					0	0	1	0	0	G	22842418	A	G	22842418	3	3	89	1	0	0	0	0	1	0	0	0	17812	72	3	3	329	3	ZNF280B	22	22842418	Missense_Mutation	SNP	A	TCGA-DJ-A2PX-01A-11D-A18F-08		22842418	28462148	5	1555											
CLSTN1	22883	broad.mit.edu	37	chr1	9804008	9804008	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagaaggatcctgacggaaGaggaagatcagccggcaccc	13	11	2	4			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr1:9804008G>A	uc001aqh.3	-	8	2049	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	CLSTN1_uc001aqi.3_Silent_p.L420L|CLSTN1_uc010oag.2_Silent_p.L430L	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	430					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGACGGAAGAGGAAGATCA	0.483													6	110					0	0	1	0	0	A	9804008	G	A	9804008	2	1	90	1	0	0	0	0	0	0	0	1	3561	929	33	2		2	CLSTN1	1	9804008	Silent	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		9804008	239446613	1	1556											
FMO3	2328	broad.mit.edu	37	chr1	171079976	171079976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggctcctgggtgatgaGccgggtctgggacaatggtt	17	7	1	2			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr1:171079976G>A	uc001ghi.3	+	5	776	c.665G>A	c.(664-666)aGc>aAc	p.S222N	FMO3_uc001ghh.3_Missense_Mutation_p.S222N|FMO3_uc010pmb.2_Missense_Mutation_p.S202N|FMO3_uc010pmc.2_Missense_Mutation_p.S159N	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	222					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGTGATGAGCCGGGTCTGG	0.463													5	120					0	0	1	0	0	A	171079976	G	A	171079976	3	1	90	1	0	0	0	0	1	0	0	0	5956	971	34	2	683	2	FMO3	1	171079976	Missense_Mutation	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08	161275968	171079976	78170645	2	1557											
GPD2	2820	broad.mit.edu	37	chr2	157352615	157352615	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagttaacagggagccTccttccagagaagctcagct	10	12	1	1			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr2:157352615T>G	uc002tzf.4	+	2	522	c.162T>G	c.(160-162)ccT>ccG	p.P54P	GPD2_uc010zch.2_Intron|GPD2_uc002tzd.4_Silent_p.P54P	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	54					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACAGGGAGCCTCCTTCCAGAG	0.443													4	42					0	0	1	0	0	G	157352615	T	G	157352615	2	3	90	1	0	0	0	0	0	0	0	1	6606	1538	54	5		5	GPD2	2	157352615	Silent	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08		157352615	85846758	3	1558											
ANXA3	306	broad.mit.edu	37	chr4	79517010	79517010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaattcactgagatcctGtgtttaaggagctttcctca	8	9	2	1			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr4:79517010G>A	uc003hld.3	+	8	913	c.603G>A	c.(601-603)ctG>ctA	p.L201L		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	201					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTGAGATCCTGTGTTTAAGGA	0.328													3	26					0	0	1	0	0	A	79517010	G	A	79517010	2	1	90	1	0	0	0	0	0	0	0	1	719	1364	48	2		2	ANXA3	4	79517010	Silent	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		79517010	111637266	4	1559											
SGK1	6446	broad.mit.edu	37	chr6	134495197	134495197	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctgaggttgggagatcttCaagatggactgaacttcagg	13	7	3	4			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr6:134495197C>T	uc003qeo.4	-	4	1057	c.459G>A	c.(457-459)ttG>ttA	p.L153L	SGK1_uc011ect.2_Silent_p.L48L|SGK1_uc003qen.4_Silent_p.L58L|SGK1_uc011ecu.2_Silent_p.L58L|SGK1_uc011ecv.2_Silent_p.L72L|SGK1_uc011ecw.2_Silent_p.L86L	NM_001143676	NP_001137148	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 2, mRNA.	58	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.L86F(1)|p.L153F(1)|p.K152K(1)|p.L48F(1)|p.L58F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGGAGATCTTCAAGATGGACT	0.498													30	75					0	0	1	0	0	T	134495197	C	T	134495197	2	4	90	1	0	0	0	0	0	0	0	1	14207	825	29	2		2	SGK1	6	134495197	Silent	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		134495197	36619870	5	1560											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	40					0	0	1	0	0	T	140453136	A	T	140453136	3	4	90	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PY-01A-11D-A18F-08		140453136	18685527	6	1561											
MYOM2	9172	broad.mit.edu	37	chr8	2046799	2046799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagtgtgaggcctggaCcatgccggagcccggtgagt	15	11	1	2			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:2046799C>T	uc003wpx.4	+	18	2564	c.2426C>T	c.(2425-2427)aCc>aTc	p.T809I	MYOM2_uc011kwi.2_Missense_Mutation_p.T234I	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	809					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGGCCTGGACCATGCCGGAG	0.657													3	18					0	0	1	0	0	T	2046799	C	T	2046799	3	4	90	1	0	0	0	0	1	0	0	0	10092	507	18	2	2496	2	MYOM2	8	2046799	Missense_Mutation	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		2046799	144317223	7	1562											
VDAC3	7419	broad.mit.edu	37	chr8	42260882	42260882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaggtgaatgagaagaTtgaaacatccataaaccttg	9	7	0	5			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:42260882T>C	uc022aul.1	+	6	610	c.608T>C	c.(607-609)aTt>aCt	p.I203T	VDAC3_uc003xpc.3_Missense_Mutation_p.I202T|VDAC3_uc011lct.2_Missense_Mutation_p.I202T	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	202					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATGAGAAGATTGAAACATCC	0.398													3	70					0	0	1	0	0	C	42260882	T	C	42260882	3	2	90	1	0	0	0	0	1	0	0	0	17145	1493	52	3	630	3	VDAC3	8	42260882	Missense_Mutation	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08	40214083	42260882	104103140	8	1563											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130672244	130672244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacctgcagtagctgtcGctgaccatcccatagaccac	8	15	1	3			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr9:130672244G>A	uc004bss.3	-	4	981	c.705C>T	c.(703-705)agC>agT	p.S235S	ST6GALNAC4_uc004bst.3_Silent_p.S151S	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	235					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AGTAGCTGTCGCTGACCATCC	0.647													20	21					0	0	1	0	0	A	130672244	G	A	130672244	2	1	90	1	0	0	0	0	0	0	0	1	15225	1078	38	1		1	ST6GALNAC4	9	130672244	Silent	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		130672244	10541187	9	1564											
ITGA8	8516	broad.mit.edu	37	chr10	15655757	15655757	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcatctacagtcacaacCggtcttgctctgcggggaga	13	11	4	1			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr10:15655757C>A	uc001ioc.1	-	14	1455	c.1455G>T	c.(1453-1455)ccG>ccT	p.P485P	ITGA8_uc010qcb.1_Silent_p.P470P	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	485					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAGTCACAACCGGTCTTGCTC	0.463													25	50					0	0	1	0	0	A	15655757	C	A	15655757	2	1	90	1	0	0	0	0	0	0	0	1	7882	639	23	4		4	ITGA8	10	15655757	Silent	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		15655757	119878990	10	1565											
GANAB	23193	broad.mit.edu	37	chr11	62400170	62400170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccattgggttgtacagcTcatactggaacacatccaaa	9	10	1	0			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr11:62400170T>C	uc001nua.3	-	9	962	c.929A>G	c.(928-930)gAg>gGg	p.E310G	GANAB_uc001nub.3_Missense_Mutation_p.E288G|GANAB_uc001nuc.3_Missense_Mutation_p.E191G|GANAB_uc010rma.2_Missense_Mutation_p.E196G|GANAB_uc010rmb.2_Missense_Mutation_p.E174G	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	288					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GTTGTACAGCTCATACTGGAA	0.552													3	208					0	0	1	0	0	C	62400170	T	C	62400170	3	2	90	1	0	0	0	0	1	0	0	0	6233	1551	54	3	2035	3	GANAB	11	62400170	Missense_Mutation	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08		62400170	72606346	11	1566											
CNGB1	1258	broad.mit.edu	37	chr16	57921841	57921841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggaggtgagcaagtttgCcgccttttgcccccttgcca	11	15	0	1			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr16:57921841C>T	uc002emt.2	-	31	3445	c.3380G>A	c.(3379-3381)gGc>gAc	p.G1127D	CNGB1_uc010cdh.2_Missense_Mutation_p.G1121D	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1127					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.G1127D(2)|p.G1126G(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGCAAGTTTGCCGCCTTTTGC	0.612													4	142					0	0	1	0	0	T	57921841	C	T	57921841	3	4	90	1	0	0	0	0	1	0	0	0	3600	739	26	2	383	2	CNGB1	16	57921841	Missense_Mutation	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		57921841	32432912	12	1567											
SRR	63826	broad.mit.edu	37	chr17	2224836	2224836	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttatattttcactaaagGttcctttggtggatgcactg	9	6	1	0	rs147900333		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr17:2224836G>T	uc002fue.1	+	6	588	c.520_splice	c.e6-1	p.V174_splice	SRR_uc002fui.1_Splice_Site_p.V25_splice	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	Homo sapiens serine racemase (SRR), mRNA.	174					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|D-serine ammonia-lyase activity|L-serine ammonia-lyase activity|PDZ domain binding|calcium ion binding|glycine binding|magnesium ion binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTCACTAAAGGTTCCTTTGGT	0.388													24	37					0	0	1	0	0	T	2224836	G	T	2224836	5	4	90	1	0	0	0	0	0	0	1	0	15165	1275	44	4	538	4	SRR	17	2224836	Splice_Site	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		2224836	78970374	13	1568											
NDUFA6	4700	broad.mit.edu	37	chr22	42482290	42482293	+	Frame_Shift_Del	DEL	TTAA	TTAA	-													gtgtccgctgcttccatactTtaattgtttcttccagttcg							TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr22:42482290_42482293delTTAA	uc003bcb.3	-	2	421_424	c.359_362delTTAA	c.(358-363)attaaafs	p.I120fs		NM_002490	NP_002481	P56556	NDUA6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa (NDUFA6), nuclear gene encoding mitochondrial protein, mRNA.	120					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	CTTCCATACTTTAATTGTTTCTTC	0.451													23	34	---	---	---	---						-	42482293	TTAA	-	42482290	7	5	90	1	0	1	0	1	0	0	0	0	10269	1841	64	0	106	0	NDUFA6	22	42482290	Frame_Shift_Del	DEL	TTAA	TCGA-DJ-A2PY-01A-11D-A18F-08		42482290	8822276	14	1569											
ARMCX2	9823	broad.mit.edu	37	chrX	100911291	100911291	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaataattgggaggccTcccaatttgcggattgtctc	10	9	1	0			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chrX:100911291T>C	uc004eid.2	-	2	1639	c.1284A>G	c.(1282-1284)ggA>ggG	p.G428G	ARMCX2_uc010nnt.2_Silent_p.G428G|ARMCX2_uc004eie.3_Silent_p.G428G|ARMCX2_uc004eif.3_Silent_p.G428G|ARMCX2_uc004eig.3_Silent_p.G428G|ARMCX2_uc022caq.1_Silent_p.G428G	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	428						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTGGGAGGCCTCCCAATTTGC	0.388													3	134					0	0	1	0	0	C	100911291	T	C	100911291	2	2	90	1	0	0	0	0	0	0	0	1	960	1538	54	3		3	ARMCX2	23	100911291	Silent	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08		100911291	54359269	15	1570											
GUCA2B	2981	broad.mit.edu	37	chr1	42620417	42620417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctggaggcacagtgggcaCccagcccccgcctgcaggcc	13	18	0	0			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:42620417C>A	uc001chc.1	+	1	187	c.157C>A	c.(157-159)Ccc>Acc	p.P53T		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.	53					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACAGTGGGCACCCAGCCCCCG	0.647													16	34					0	0	1	0	0	A	42620417	C	A	42620417	3	1	91	1	0	0	0	0	1	0	0	0	6892	507	18	4	163	4	GUCA2B	1	42620417	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		42620417	206630204	1	1571											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858710	149858710	+	Frame_Shift_Del	DEL	G	G	-													ctcgagtacctgaccgccgaGatcctggagctggcgggcaa							TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:149858710delG	uc001etd.3	+	0	186	c.186delG	c.(184-186)gagfs	p.E62fs	HIST2H2BE_uc001etc.3_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	Homo sapiens histone cluster 2, H2ac (HIST2H2AC), mRNA.	62					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGACCGCCGAGATCCTGGAGC	0.672													37	63	---	---	---	---						-	149858710	G	-	149858710	7	5	91	1	0	1	0	1	0	0	0	0	7178	933	33	0	188	0	HIST2H2AC	1	149858710	Frame_Shift_Del	DEL	G	TCGA-DJ-A2PZ-01A-21D-A18F-08	107238293	149858710	99391911	2	1572											
SYT11	23208	broad.mit.edu	37	chr1	155838393	155838393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggaccctgtgtttgaCgagaccttcaccttctatgg	9	13	2	2			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:155838393C>T	uc001fmg.3	+	1	965	c.672C>T	c.(670-672)gaC>gaT	p.D224D	SYT11_uc010pgq.2_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	224	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.D224H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CTGTGTTTGACGAGACCTTCA	0.557													19	44					0	0	1	0	0	T	155838393	C	T	155838393	2	4	91	1	0	0	0	0	0	0	0	1	15464	535	19	1		1	SYT11	1	155838393	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08	5979683	155838393	93412228	3	1573											
SIPA1L2	57568	broad.mit.edu	37	chr1	232629364	232629364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccggatgctgactgctActggaccaaggttttcatct	9	12	3	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:232629364A>G	uc001hvg.3	-	1	1684	c.1526T>C	c.(1525-1527)gTa>gCa	p.V509A		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	509					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGACTGCTACTGGACCAAG	0.458													5	304					0	0	1	0	0	G	232629364	A	G	232629364	3	3	91	1	0	0	0	0	1	0	0	0	14330	391	14	3	3722	3	SIPA1L2	1	232629364	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	76790971	232629364	16621257	4	1574											
DNAJB11	51726	broad.mit.edu	37	chr3	186299235	186299235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcaagagatgcggaccAcccagctgggccctgggcgc	16	14	0	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr3:186299235A>G	uc003fqi.3	+	4	1267	c.532A>G	c.(532-534)Acc>Gcc	p.T178A		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	178					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GATGCGGACCACCCAGCTGGG	0.517													33	65					0	0	1	0	0	G	186299235	A	G	186299235	3	3	91	1	0	0	0	0	1	0	0	0	4616	159	6	3	550	3	DNAJB11	3	186299235	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08		186299235	11723195	5	1575											
ANKS1A	23294	broad.mit.edu	37	chr6	34985386	34985386	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggaccctttccagctgctCtgtaccgctggccagagcca	10	16	1	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr6:34985386C>T	uc003ojx.4	+	10	1702	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	ANKS1A_uc011dst.2_Silent_p.L60L|ANKS1A_uc010jvp.2_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	520						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCAGCTGCTCTGTACCGCTG	0.692													7	35					0	0	1	0	0	T	34985386	C	T	34985386	2	4	91	1	0	0	0	0	0	0	0	1	688	900	32	2		2	ANKS1A	6	34985386	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		34985386	136129681	6	1576											
HBS1L	10767	broad.mit.edu	37	chr6	135314952	135314952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatggcctggagcatccaTtaatgtaataactttggttg	9	7	0	0			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr6:135314952T>C	uc003qez.2	-	7	1234	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V	HBS1L_uc003qey.2_Missense_Mutation_p.M179V|HBS1L_uc011ecy.1_Missense_Mutation_p.M67V|HBS1L_uc011ecz.1_Missense_Mutation_p.M179V|HBS1L_uc011eda.1_Missense_Mutation_p.M301V	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	343					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GGAGCATCCATTAATGTAATA	0.373													4	34					0	0	1	0	0	C	135314952	T	C	135314952	3	2	91	1	0	0	0	0	1	0	0	0	6987	1493	52	3	1071	3	HBS1L	6	135314952	Missense_Mutation	SNP	T	TCGA-DJ-A2PZ-01A-21D-A18F-08	100329566	135314952	35800115	7	1577											
CDK13	8621	broad.mit.edu	37	chr7	40027812	40027812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacctctacattaccacCgttacctttgcctcccatgc	4	17	2	0			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr7:40027812C>T	uc003thh.4	+	1	2108	c.1826C>T	c.(1825-1827)cCg>cTg	p.P609L	CDK13_uc003thi.4_Missense_Mutation_p.P609L|CDK13_uc011kbf.2_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	609					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACATTACCACCGTTACCTTTG	0.393													22	47					0	0	1	0	0	T	40027812	C	T	40027812	3	4	91	1	0	0	0	0	1	0	0	0	3129	652	23	1	1832	1	CDK13	7	40027812	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		40027812	119110851	8	1578											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	47					0	0	1	0	0	T	140453136	A	T	140453136	3	4	91	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	100425324	140453136	18685527	9	1579											
METTL11A	28989	broad.mit.edu	37	chr9	132397704	132397704	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaggcaggagaacctcccCgatgagatctaccatgtcta	11	11	2	3	rs151072869		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr9:132397704C>G	uc004byd.1	+	3	827	c.633C>G	c.(631-633)ccC>ccG	p.P211P	METTL11A_uc011mbs.1_3'UTR|METTL11A_uc010myw.1_Non-coding_Transcript|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.2_3'UTR|ASB6_uc010myx.2_3'UTR|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.	211					N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						AGAACCTCCCCGATGAGATCT	0.627													3	107					0	0	1	0	0	G	132397704	C	G	132397704	2	3	91	1	0	0	0	0	0	0	0	1	9495	639	23	4		4	METTL11A	9	132397704	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		132397704	8815727	10	1580											
CADM1	23705	broad.mit.edu	37	chr11	115102104	115102104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgttccctttgaaccacctGatagtcgtggctggcttgct	11	11	0	2			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr11:115102104G>C	uc001ppj.4	-	3	660	c.531C>G	c.(529-531)atC>atG	p.I177M	CADM1_uc001ppf.4_Missense_Mutation_p.I177M|CADM1_uc001ppi.4_Missense_Mutation_p.I177M|CADM1_uc001ppk.4_Missense_Mutation_p.I177M|CADM1_uc001ppl.3_Missense_Mutation_p.I177M	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	177	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.I177I(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGAACCACCTGATAGTCGTGG	0.463													5	81					0	0	1	0	0	C	115102104	G	C	115102104	3	2	91	1	0	0	0	0	1	0	0	0	2566	1280	45	4	825	4	CADM1	11	115102104	Missense_Mutation	SNP	G	TCGA-DJ-A2PZ-01A-21D-A18F-08		115102104	19904412	11	1581											
STT3A	3703	broad.mit.edu	37	chr11	125479386	125479386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggatccctcttatgctaAgaacaacatccccatcattg	6	13	2	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr11:125479386A>C	uc001qcd.2	+	9	1129	c.1019A>C	c.(1018-1020)aAg>aCg	p.K340T	STT3A_uc009zbm.2_Missense_Mutation_p.K340T|STT3A_uc001qce.2_Missense_Mutation_p.K340T|STT3A_uc010sbg.1_Missense_Mutation_p.K248T|STT3A_uc009zbn.2_Intron	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	340					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCTTATGCTAAGAACAACATC	0.473													38	97					0	0	1	0	0	C	125479386	A	C	125479386	3	2	91	1	0	0	0	0	1	0	0	0	15332	72	3	5	1053	5	STT3A	11	125479386	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	10377282	125479386	9527130	12	1582											
HSPH1	10808	broad.mit.edu	37	chr13	31725226	31725226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgtattttggattttgCatccaacttgtacttagttt	7	7	0	0			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr13:31725226C>A	uc001utl.3	-	6	1043	c.772G>T	c.(772-774)Gca>Tca	p.A258S	HSPH1_uc001utj.3_Missense_Mutation_p.A256S|HSPH1_uc001utk.3_Missense_Mutation_p.A256S|HSPH1_uc010aaw.3_Missense_Mutation_p.A215S|HSPH1_uc010tds.2_Missense_Mutation_p.A180S|HSPH1_uc010tdt.1_Non-coding_Transcript	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	256					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTGGATTTTGCATCCAACTTG	0.373													25	48					0	0	1	0	0	A	31725226	C	A	31725226	3	1	91	1	0	0	0	0	1	0	0	0	7431	710	25	4	1858	4	HSPH1	13	31725226	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		31725226	83444652	13	1583											
F7	2155	broad.mit.edu	37	chr13	113768272	113768272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagggccggaactgtgagaCgcgtaaggccccactttggg	16	11	0	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr13:113768272C>T	uc001vsv.3	+	4	479	c.428C>T	c.(427-429)aCg>aTg	p.T143M	F7_uc010agp.1_Missense_Mutation_p.T136M|F7_uc001vsw.3_Missense_Mutation_p.T121M|F7_uc010tjt.2_Missense_Mutation_p.T74M	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	143					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AACTGTGAGACGCGTAAGGCC	0.632													12	44					0	0	1	0	0	T	113768272	C	T	113768272	3	4	91	1	0	0	0	0	1	0	0	0	5349	536	19	1	446	1	F7	13	113768272	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08	82043046	113768272	1401606	14	1584											
SYNE2	23224	broad.mit.edu	37	chr14	64560157	64560157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctcagttctcccttgaaCatatgtcaccagaccaagct	6	14	3	2			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr14:64560157C>A	uc001xgl.3	+	60	12297	c.12067C>A	c.(12067-12069)Cat>Aat	p.H4023N	SYNE2_uc001xgm.3_Missense_Mutation_p.H4023N|SYNE2_uc021ruh.1_Missense_Mutation_p.H4056N|SYNE2_uc010apy.3_Missense_Mutation_p.H408N|SYNE2_uc010apx.1_Missense_Mutation_p.H415N	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4023					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCCCTTGAACATATGTCACC	0.328													4	94					0	0	1	0	0	A	64560157	C	A	64560157	3	1	91	1	0	0	0	0	1	0	0	0	15443	478	17	4	12305	4	SYNE2	14	64560157	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		64560157	42789383	15	1585											
RBBP6	5930	broad.mit.edu	37	chr16	24581020	24581021	+	Frame_Shift_Ins	INS	-	-	AC													cttttaaatcagtgtctgaaINSaaagacaagagagaaaggga							TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr16:24581020_24581021insAC	uc002dmh.3	+	16	4049_4050	c.3009_3010insAC	c.(3007-3012)gaaaaafs	p.E1003fs	RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E870fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.E969fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.E836fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1003	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGTGTCTGAAAAAGACAAGAG	0.371													45	65	---	---	---	---						AC	24581021	-	AC	24581020	7	5	91	1	0	1	1	0	0	0	0	0	13103	11	1	0	3129	0	RBBP6	16	24581020	Frame_Shift_Ins	INS	-	TCGA-DJ-A2PZ-01A-21D-A18F-08		24581020	65773733	16	1586											
ZC3H18	124245	broad.mit.edu	37	chr16	88675418	88675418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggacagtatgagaatttcAgggtgcagtatacagaaaca	12	6	1	2			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr16:88675418A>G	uc010voz.2	+	7	1437	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G	ZC3H18_uc021tmm.1_Missense_Mutation_p.R413G|ZC3H18_uc010voy.1_Missense_Mutation_p.R272G|ZC3H18_uc002fky.3_Missense_Mutation_p.R389G|ZC3H18_uc010chw.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	389						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAGAATTTCAGGGTGCAGTA	0.408													3	91					0	0	1	0	0	G	88675418	A	G	88675418	3	3	91	1	0	0	0	0	1	0	0	0	17565	179	7	3	1187	3	ZC3H18	16	88675418	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	64094398	88675418	1679335	17	1587											
CAPNS1	826	broad.mit.edu	37	chr19	36637183	36637183	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggattttgacaacttcatCagctgcttggtcaggctgga	11	8	3	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr19:36637183C>A	uc002odi.1	+	8	847	c.690C>A	c.(688-690)atC>atA	p.I230I	CAPNS1_uc002odk.3_Silent_p.I230I|CAPNS1_uc002odj.3_Silent_p.I230I|CAPNS1_uc002odl.3_Silent_p.I230I	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	230	EF-hand 4.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACAACTTCATCAGCTGCTTGG	0.493													91	136					0	0	1	0	0	A	36637183	C	A	36637183	2	1	91	1	0	0	0	0	0	0	0	1	2633	816	29	4		4	CAPNS1	19	36637183	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		36637183	22491800	18	1588											
FCGBP	8857	broad.mit.edu	37	chr19	40364079	40364079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgttggccaggcagcGgccacagcctgtggcatgac	14	16	0	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr19:40364079G>A	uc002omp.4	-	30	14571	c.14563C>T	c.(14563-14565)Cgc>Tgc	p.R4855C		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4855	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGGCAGCGGCCACAGCCT	0.642													24	33					0	0	1	0	0	A	40364079	G	A	40364079	3	1	91	1	0	0	0	0	1	0	0	0	5778	1116	39	1	1678	1	FCGBP	19	40364079	Missense_Mutation	SNP	G	TCGA-DJ-A2PZ-01A-21D-A18F-08	3726896	40364079	18764904	19	1589											
NCOA3	8202	broad.mit.edu	37	chr20	46262900	46262900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccgaaatcctgtaacaaAtgatcgacatggctttgtct	7	10	1	1			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr20:46262900A>G	uc002xtk.3	+	9	1334	c.1073A>G	c.(1072-1074)aAt>aGt	p.N358S	NCOA3_uc002xtl.3_Missense_Mutation_p.N358S|NCOA3_uc002xtn.3_Missense_Mutation_p.N358S|NCOA3_uc010ght.2_Missense_Mutation_p.N368S|NCOA3_uc002xtm.3_Missense_Mutation_p.N358S|NCOA3_uc010zyc.2_Missense_Mutation_p.N153S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	358					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCTGTAACAAATGATCGACAT	0.398													23	74					0	0	1	0	0	G	46262900	A	G	46262900	3	3	91	1	0	0	0	0	1	0	0	0	10230	101	4	3	1133	3	NCOA3	20	46262900	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08		46262900	16762620	20	1590											
ICMT	23463	broad.mit.edu	37	chr1	6291980	6291980	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgagttccaatactccaGtaaaaccacccgacgtaaga	6	13	0	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:6291980G>T	uc001amk.3	-	3	727	c.654C>A	c.(652-654)taC>taA	p.Y218*	ICMT_uc001aml.3_Nonsense_Mutation_p.Y122*	NM_012405	NP_036537	O60725	ICMT_HUMAN	Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA.	218					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAATACTCCAGTAAAACCACC	0.363													14	60					0	0	1	0	0	T	6291980	G	T	6291980	4	4	92	1	0	0	0	0	0	1	0	0	7485	1024	36	4	208	4	ICMT	1	6291980	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		6291980	242958641	1	1591											
EPRS	2058	broad.mit.edu	37	chr1	220198558	220198558	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagttaacctggtagtgCtggttcagaagagcagcttt	11	6	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:220198558C>G	uc001hly.1	-	6	936	c.666G>C	c.(664-666)caG>caC	p.Q222H	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.Q222H|EPRS_uc009xdt.1_Missense_Mutation_p.Q23H	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	222	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCTGGTAGTGCTGGTTCAGAA	0.318													3	45					0	0	1	0	0	G	220198558	C	G	220198558	3	3	92	1	0	0	0	0	1	0	0	0	5191	796	28	4	3976	4	EPRS	1	220198558	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	213906578	220198558	29052063	2	1592											
RYR2	6262	broad.mit.edu	37	chr1	237758830	237758830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactgctatatggtatgtgCgggtgagagcatgagccccg	14	9	0	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:237758830C>A	uc001hyl.1	+	33	4589	c.4469C>A	c.(4468-4470)gCg>gAg	p.A1490E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1490	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1488V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGTATGTGCGGGTGAGAGC	0.463													8	30					0	0	1	0	0	A	237758830	C	A	237758830	3	1	92	1	0	0	0	0	1	0	0	0	13769	768	27	4	4603	4	RYR2	1	237758830	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	17560272	237758830	11491791	3	1593											
OR14I1	401994	broad.mit.edu	37	chr1	248845498	248845498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcaggttccccaccagCactgccagataaatcagcag	9	13	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:248845498C>T	uc001ieu.1	-	0	108	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	36			V -> A (in dbSNP:rs4462184).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCCCCACCAGCACTGCCAGAT	0.498													9	41					0	0	1	0	0	T	248845498	C	T	248845498	2	4	92	1	0	0	0	0	0	0	0	1	10947	697	25	2		2	OR14I1	1	248845498	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	11086668	248845498	405123	4	1594											
WDR33	55339	broad.mit.edu	37	chr2	128477839	128477839	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggaccttgtcctggaaaaGgctggggtccgaggagaggg	18	7	0	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr2:128477839G>C	uc002tpg.2	-	15	1959	c.1760C>G	c.(1759-1761)cCt>cGt	p.P587R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	587					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTGGAAAAGGCTGGGGTCC	0.493													5	115					0	0	1	0	0	C	128477839	G	C	128477839	3	2	92	1	0	0	0	0	1	0	0	0	17284	1000	35	4	2278	4	WDR33	2	128477839	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		128477839	114721534	5	1595											
ZNF385D	79750	broad.mit.edu	37	chr3	21478657	21478657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgcggatttccacagTtgtcgtcgttgatattgctg	11	8	0	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:21478657T>C	uc003cce.3	-	4	886	c.478A>G	c.(478-480)Act>Gct	p.T160A	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	160	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTCCACAGTTGTCGTCGTT	0.428													14	65					0	0	1	0	0	C	21478657	T	C	21478657	3	2	92	1	0	0	0	0	1	0	0	0	17875	1725	60	3	725	3	ZNF385D	3	21478657	Missense_Mutation	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08		21478657	176543773	6	1596											
TNNC1	7134	broad.mit.edu	37	chr3	52485804	52485804	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacagctcctcctcagatttCcctttgctgtcgtccttcat	6	15	2	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:52485804C>G	uc003deb.3	-	3	299	c.273G>C	c.(271-273)ggG>ggC	p.G91G		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	91					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	p.G91W(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CCTCAGATTTCCCTTTGCTGT	0.567													4	98					0	0	1	0	0	G	52485804	C	G	52485804	2	3	92	1	0	0	0	0	0	0	0	1	16321	842	30	4		4	TNNC1	3	52485804	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	31007147	52485804	145536626	7	1597											
SLITRK3	22865	broad.mit.edu	37	chr3	164906055	164906055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcggaaccctgccaagtctCccccagttcccccaactact	7	19	1	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:164906055C>T	uc003fej.4	-	1	3008	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	SLITRK3_uc003fek.3_Missense_Mutation_p.G855E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G855E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	855						integral to membrane		p.G854A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGCCAAGTCTCCCCCAGTTCC	0.567										HNSCC(40;0.11)			48	69					0	0	1	0	0	T	164906055	C	T	164906055	3	4	92	1	0	0	0	0	1	0	0	0	14744	855	30	2	373	2	SLITRK3	3	164906055	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	112420251	164906055	33116375	8	1598											
NSUN7	79730	broad.mit.edu	37	chr4	40776343	40776343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcatgatgccctttcaAtttaccacatccttccagaa	4	13	2	2	rs148671827		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr4:40776343A>G	uc003gvj.4	+	4	1045	c.550A>G	c.(550-552)Att>Gtt	p.I184V	NSUN7_uc003gvh.2_Missense_Mutation_p.I184V|NSUN7_uc003gvi.4_Missense_Mutation_p.I184V	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGCCCTTTCAATTTACCACAT	0.373													4	82					0	0	1	0	0	G	40776343	A	G	40776343	3	3	92	1	0	0	0	0	1	0	0	0	10683	101	4	3	564	3	NSUN7	4	40776343	Missense_Mutation	SNP	A	TCGA-DJ-A2Q0-01A-11D-A202-08		40776343	150377933	9	1599											
JAKMIP2	9832	broad.mit.edu	37	chr5	147051354	147051354	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttctcgcccttatttcGccctttcttggacattgttc	8	13	2	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr5:147051354G>A	uc010jgo.1	-	0	164	c.16C>T	c.(16-18)Cga>Tga	p.R6*	JAKMIP2_uc003loq.1_Nonsense_Mutation_p.R6*|JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Nonsense_Mutation_p.R6*	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	6						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTATTTCGCCCTTTCTTG	0.458													11	47					0	0	1	0	0	A	147051354	G	A	147051354	4	1	92	1	0	0	0	0	0	1	0	0	7941	1095	38	1	2496	1	JAKMIP2	5	147051354	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		147051354	33863906	10	1600											
MCM3	4172	broad.mit.edu	37	chr6	52129524	52129524	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtgaggcgattcatgccGattgactgcgcatgagcttc	12	10	2	3	rs111523955		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:52129524G>A	uc003pan.1	-	16	2399	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	MCM3_uc011dwu.1_Silent_p.I717I	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	763					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GATTCATGCCGATTGACTGCG	0.527													70	128					0	0	1	0	0	A	52129524	G	A	52129524	2	1	92	1	0	0	0	0	0	0	0	1	9387	1048	37	1		1	MCM3	6	52129524	Silent	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		52129524	118985543	11	1601											
LAMA4	3910	broad.mit.edu	37	chr6	112508668	112508668	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtactttgaggaggtagatgGtggcgttgatttcattcacg	14	5	2	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:112508668G>C	uc003pvu.2	-	7	1259	c.950C>G	c.(949-951)aCc>aGc	p.T317S	LAMA4_uc003pvv.2_Missense_Mutation_p.T310S|LAMA4_uc003pvt.2_Missense_Mutation_p.T310S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	317	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGGTAGATGGTGGCGTTGAT	0.537													3	83					0	0	1	0	0	C	112508668	G	C	112508668	3	2	92	1	0	0	0	0	1	0	0	0	8608	1261	44	4	4649	4	LAMA4	6	112508668	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	60379144	112508668	58606399	12	1602											
RINT1	60561	broad.mit.edu	37	chr7	105190850	105190850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctacacagtgttcatgGctatcctggcacttttgcta	10	10	1	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:105190850G>A	uc003vda.1	+	8	1481	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	RINT1_uc010ljj.1_5'UTR	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	417	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGTTCATGGCTATCCTGGC	0.418													12	242					0	0	1	0	0	A	105190850	G	A	105190850	3	1	92	1	0	0	0	0	1	0	0	0	13376	1203	42	2	1284	2	RINT1	7	105190850	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		105190850	53947813	13	1603											
PTPRZ1	5803	broad.mit.edu	37	chr7	121668634	121668634	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagactgcacacttttacTtagaggacagtacatcccct	6	13	0	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:121668634T>G	uc003vjy.3	+	13	5412	c.5017T>G	c.(5017-5019)Tta>Gta	p.L1673V	PTPRZ1_uc011knt.2_Missense_Mutation_p.L813V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.L813V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1673					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACACTTTTACTTAGAGGACAG	0.383													7	79					0	0	1	0	0	G	121668634	T	G	121668634	3	3	92	1	0	0	0	0	1	0	0	0	12814	1606	56	5	5071	5	PTPRZ1	7	121668634	Missense_Mutation	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08	16477784	121668634	37470029	14	1604											
FASTK	10922	broad.mit.edu	37	chr7	150775088	150775088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgccacccctgcttccCgagccaggatcctctcaagg	12	16	1	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:150775088C>A	uc003wix.1	-	4	1015	c.917G>T	c.(916-918)cGg>cTg	p.R306L	AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.R67L|FASTK_uc003wiy.1_Missense_Mutation_p.R165L|FASTK_uc003wiz.1_Missense_Mutation_p.R279L|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	306					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCCTGCTTCCCGAGCCAGGAT	0.577													4	181					0	0	1	0	0	A	150775088	C	A	150775088	3	1	92	1	0	0	0	0	1	0	0	0	5684	652	23	4	756	4	FASTK	7	150775088	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	29106454	150775088	8363575	15	1605											
ADCY8	114	broad.mit.edu	37	chr8	131848585	131848585	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtagacggtctcagtgagCagggcatagatggcaatcat	14	8	2	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr8:131848585C>A	uc003ytd.4	-	11	2869	c.2613G>T	c.(2611-2613)ctG>ctT	p.L871L	ADCY8_uc010mds.3_Silent_p.L740L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	871					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCTCAGTGAGCAGGGCATAGA	0.557										HNSCC(32;0.087)			26	25					0	0	1	0	0	A	131848585	C	A	131848585	2	1	92	1	0	0	0	0	0	0	0	1	300	697	25	4		4	ADCY8	8	131848585	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		131848585	14515437	16	1606											
C10orf28	27291	broad.mit.edu	37	chr10	99968514	99968514	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaactgataccaaggttttgGagatactatatgagtttcct	8	6	0	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr10:99968514G>T	uc001kox.4	+	4	993	c.643G>T	c.(643-645)Gag>Tag	p.E215*	C10orf28_uc001kow.4_Nonsense_Mutation_p.E215*|C10orf28_uc001koy.4_Nonsense_Mutation_p.E215*|C10orf28_uc009xvx.3_Nonsense_Mutation_p.E215*|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	215							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		CAAGGTTTTGGAGATACTATA	0.358													23	22					0	0	1	0	0	T	99968514	G	T	99968514	4	4	92	1	0	0	0	0	0	1	0	0	1601	1175	41	4	645	4	C10orf28	10	99968514	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		99968514	35566233	17	1607											
APBB1	322	broad.mit.edu	37	chr11	6422860	6422860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggcaggtgcctcacagcGaaacacgtggcacttgagca	12	12	1	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:6422860G>A	uc001mdb.1	-	8	1541	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	APBB1_uc001mdd.3_Missense_Mutation_p.R261C|APBB1_uc001mdc.1_Missense_Mutation_p.R481C|APBB1_uc010rab.2_Missense_Mutation_p.R8C|APBB1_uc010rad.2_Missense_Mutation_p.R200C	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	483	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.R481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCTCACAGCGAAACACGTGG	0.577													7	84					0	0	1	0	0	A	6422860	G	A	6422860	3	1	92	1	0	0	0	0	1	0	0	0	759	1058	37	1	709	1	APBB1	11	6422860	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		6422860	128583656	18	1608											
EED	8726	broad.mit.edu	37	chr11	85977149	85977149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatcttttgggtgaaaaaAtaatgtcctgtggtatggat	11	3	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:85977149A>G	uc001pbr.3	+	7	1217	c.751A>G	c.(751-753)Ata>Gta	p.I251V	EED_uc010rtm.2_Missense_Mutation_p.I251V|EED_uc001pbp.3_Missense_Mutation_p.I251V|EED_uc001pbq.3_Missense_Mutation_p.I251V|EED_uc010rtn.1_Non-coding_Transcript	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	251	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGGTGAAAAAATAATGTCCTG	0.284													5	86					0	0	1	0	0	G	85977149	A	G	85977149	3	3	92	1	0	0	0	0	1	0	0	0	4922	101	4	3	781	3	EED	11	85977149	Missense_Mutation	SNP	A	TCGA-DJ-A2Q0-01A-11D-A202-08	79554289	85977149	49029367	19	1609											
ST8SIA1	6489	broad.mit.edu	37	chr12	22487009	22487009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacgatctctttctcgTtgggcagccggtagacgggg	14	12	2	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:22487009T>C	uc001rfo.4	-	0	640	c.158A>G	c.(157-159)aAc>aGc	p.N53S	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	53					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CTCTTTCTCGTTGGGCAGCCG	0.662													4	130					0	0	1	0	0	C	22487009	T	C	22487009	3	2	92	1	0	0	0	0	1	0	0	0	15230	1725	60	3	932	3	ST8SIA1	12	22487009	Missense_Mutation	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08		22487009	111364886	20	1610											
AQP6	363	broad.mit.edu	37	chr12	50367285	50367285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggctgcccagctggtggGggccacggtgggggctgctc	20	11	0	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:50367285G>A	uc001rvr.1	+	0	1022	c.329G>A	c.(328-330)gGg>gAg	p.G110E	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	110					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CAGCTGGTGGGGGCCACGGTG	0.677													7	29					0	0	1	0	0	A	50367285	G	A	50367285	3	1	92	1	0	0	0	0	1	0	0	0	830	1232	43	2	331	2	AQP6	12	50367285	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	27880276	50367285	83484610	21	1611											
FSCB	84075	broad.mit.edu	37	chr14	44973729	44973729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactacagttcaggaggaCgttgttttaattctatatga	9	6	2	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr14:44973729C>T	uc001wvn.3	-	0	2771	c.2462G>A	c.(2461-2463)cGt>cAt	p.R821H		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	821						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCAGGAGGACGTTGTTTTAA	0.388													4	52					0	0	1	0	0	T	44973729	C	T	44973729	3	4	92	1	0	0	0	0	1	0	0	0	6066	536	19	1	19	1	FSCB	14	44973729	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		44973729	62375811	22	1612											
CASC4	113201	broad.mit.edu	37	chr15	44581275	44581275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggccgcctgccctctctCgtgctggtggtgctgctggt	15	14	1	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr15:44581275C>T	uc001ztp.3	+	0	367	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CASC4_uc001ztq.3_Silent_p.L16L|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Silent_p.L16L	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	16						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGCCCTCTCTCGTGCTGGTGG	0.677													42	58					0	0	1	0	0	T	44581275	C	T	44581275	2	4	92	1	0	0	0	0	0	0	0	1	2662	871	31	1		1	CASC4	15	44581275	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		44581275	57950117	23	1613											
AP1G1	164	broad.mit.edu	37	chr16	71768593	71768593	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgctgctgctaggagacaaGagctgcagctggaatgtcta	13	8	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr16:71768593G>C	uc002fbb.3	-	24	3166	c.2355C>G	c.(2353-2355)ctC>ctG	p.L785L	AP1G1_uc021tkz.1_Silent_p.L550L|AP1G1_uc010cgg.3_Silent_p.L762L|AP1G1_uc002faz.3_Silent_p.L179L|AP1G1_uc021tky.1_Silent_p.L765L	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	762	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TAGGAGACAAGAGCTGCAGCT	0.463													15	316					0	0	1	0	0	C	71768593	G	C	71768593	2	2	92	1	0	0	0	0	0	0	0	1	732	929	33	4		4	AP1G1	16	71768593	Silent	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		71768593	18586160	24	1614											
OTOP2	92736	broad.mit.edu	37	chr17	72926756	72926756	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgggactcaccaccttggtCagcctgagcggctccatcat	10	14	3	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:72926756C>A	uc010wrp.2	+	5	1118	c.1026C>A	c.(1024-1026)gtC>gtA	p.V342V		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	342						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCACCTTGGTCAGCCTGAGCG	0.612													15	55					0	0	1	0	0	A	72926756	C	A	72926756	2	1	92	1	0	0	0	0	0	0	0	1	11306	813	29	4		4	OTOP2	17	72926756	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		72926756	8268454	25	1615											
FOXK2	3607	broad.mit.edu	37	chr17	80544992	80544992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgctcggcactgccagcCggatcattcagacggcacag	11	16	2	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:80544992C>T	uc002kfn.3	+	7	1801	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	FOXK2_uc002kfm.1_Missense_Mutation_p.R544W|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	544					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CACTGCCAGCCGGATCATTCA	0.488													43	82					0	0	1	0	0	T	80544992	C	T	80544992	3	4	92	1	0	0	0	0	1	0	0	0	6015	643	23	1	1660	1	FOXK2	17	80544992	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	7618236	80544992	650218	26	1616											
GNAL	2774	broad.mit.edu	37	chr18	11752905	11752905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagatgaggatcctgcacGtcaatgggtttaatcccgag	11	9	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr18:11752905G>A	uc002kqc.2	+	1	857	c.430G>A	c.(430-432)Gtc>Atc	p.V144I	GNAL_uc002kqd.2_Missense_Mutation_p.V67I|GNAL_uc010dkz.2_Missense_Mutation_p.V67I	NM_182978	NP_892023	P38405	GNAL_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.	67					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GATCCTGCACGTCAATGGGTT	0.468													14	22					0	0	1	0	0	A	11752905	G	A	11752905	3	1	92	1	0	0	0	0	1	0	0	0	6507	1145	40	1	585	1	GNAL	18	11752905	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		11752905	66324343	27	1617											
CYP2A13	1553	broad.mit.edu	37	chr19	41594528	41594528	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaactacctgcagctgaacaCagagcagatgtacaactccc	7	13	0	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:41594528C>G	uc002opt.3	+	0	161	c.152C>G	c.(151-153)aCa>aGa	p.T51R		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	51					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CAGCTGAACACAGAGCAGATG	0.602													11	121					0	0	1	0	0	G	41594528	C	G	41594528	3	3	92	1	0	0	0	0	1	0	0	0	4161	478	17	4	154	4	CYP2A13	19	41594528	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		41594528	17534455	28	1618											
IGFL4	444882	broad.mit.edu	37	chr19	46543657	46543657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgggcgctggctggcAtagccacagtctaagatctg	13	12	2	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:46543657A>G	uc002pdy.1	-	2	142	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	Homo sapiens IGF-like family member 4 (IGFL4), mRNA.	30						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTGGCTGGCATAGCCACAGT	0.602													4	91					0	0	1	0	0	G	46543657	A	G	46543657	3	3	92	1	0	0	0	0	1	0	0	0	7589	217	8	3	294	3	IGFL4	19	46543657	Missense_Mutation	SNP	A	TCGA-DJ-A2Q0-01A-11D-A202-08	4949129	46543657	12585326	29	1619											
DEFB118	117285	broad.mit.edu	37	chr20	29960791	29960791	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaatgaagaccacaggCgagttcctgcgacatctccc	8	15	1	2			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:29960791C>T	uc002wvr.3	+	1	223	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	64					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		p.R64L(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCACAGGCGAGTTCCTGC	0.438													9	110					0	0	1	0	0	T	29960791	C	T	29960791	4	4	92	1	0	0	0	0	0	1	0	0	4406	760	27	1	196	1	DEFB118	20	29960791	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		29960791	33064729	30	1620											
LAMA5	3911	broad.mit.edu	37	chr20	60887079	60887079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaggctcacacggccctGctgcagggacacctggcata	12	14	1	0			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:60887079G>C	uc002ycq.3	-	69	9599	c.9532C>G	c.(9532-9534)Cag>Gag	p.Q3178E	LAMA5_uc021wfw.1_Missense_Mutation_p.Q3178E	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3178	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACGGCCCTGCTGCAGGGAC	0.637													20	51					0	0	1	0	0	C	60887079	G	C	60887079	3	2	92	1	0	0	0	0	1	0	0	0	8609	1328	46	4	1599	4	LAMA5	20	60887079	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	30926288	60887079	2138441	31	1621											
TLR7	51284	broad.mit.edu	37	chrX	12885601	12885601	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttctctttctcttagtTgatgctattgggcccatctc	7	11	4	1			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chrX:12885601T>G	uc004cvc.3	+	2	42	c.-97_splice	c.e2-1			NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.						I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTCTCTTAGTTGATGCTATTG	0.393													39	134					0	0	1	0	0	G	12885601	T	G	12885601	5	3	92	1	0	0	0	0	0	0	1	0	15953	1826	63	5		5	TLR7	23	12885601	Splice_Site	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08		12885601	142384959	32	1622											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217771	130217771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaacgagtttacccgccGcaagcatcttgaactgacag	11	11	1	3			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chrX:130217771G>A	uc004evz.3	+	3	728	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ARHGAP36_uc004ewa.3_Missense_Mutation_p.R116H|ARHGAP36_uc004ewb.3_Missense_Mutation_p.R97H|ARHGAP36_uc004ewc.3_5'UTR	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	128					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R128C(2)|p.R127S(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTACCCGCCGCAAGCATCTT	0.562													36	168					0	0	1	0	0	A	130217771	G	A	130217771	3	1	92	1	0	0	0	0	1	0	0	0	883	1087	38	1	393	1	ARHGAP36	23	130217771	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	117332170	130217771	25052789	33	1623											
TRIP12	9320	broad.mit.edu	37	chr2	230664036	230664036	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatctcttggaggtgaGtactttggccttcttggccc	10	11	4	1			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr2:230664036G>T	uc002vpx.1	-	21	3298	c.3189C>A	c.(3187-3189)taC>taA	p.Y1063*	TRIP12_uc021vxw.1_Nonsense_Mutation_p.Y1048*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.Y745*|TRIP12_uc002vpw.1_Nonsense_Mutation_p.Y1015*|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1015					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.Y1015*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGGAGGTGAGTACTTTGGCC	0.428													18	77					0	0	1	0	0	T	230664036	G	T	230664036	4	4	93	1	0	0	0	0	0	1	0	0	16553	1024	36	4	3017	4	TRIP12	2	230664036	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q1-01A-22D-A19J-08		230664036	12535337	1	1624											
ATR	545	broad.mit.edu	37	chr3	142278216	142278216	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttttgtgtaaaaatccaAtgacatccaagttatcacta	4	9	1	1			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr3:142278216A>G	uc003eux.4	-	6	1731	c.1609T>C	c.(1609-1611)Ttg>Ctg	p.L537L		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	537					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAAAAATCCAATGACATCCAA	0.363								Other conserved DNA damage response genes					20	34					0	0	1	0	0	G	142278216	A	G	142278216	2	3	93	1	0	0	0	0	0	0	0	1	1204	98	4	3		3	ATR	3	142278216	Silent	SNP	A	TCGA-DJ-A2Q1-01A-22D-A19J-08		142278216	55744214	2	1625											
DYNC1I1	1780	broad.mit.edu	37	chr7	95442507	95442507	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacactgctcttcaccaGtgcagccgctgcatttttta	7	13	3	1			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr7:95442507G>A	uc003uoc.4	+	4	501	c.224_splice	c.e4-1	p.V75_splice	DYNC1I1_uc003uod.4_Intron|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Splice_Site_p.V75_splice|DYNC1I1_uc010lfl.3_Intron	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	75	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTCTTCACCAGTGCAGCCGCT	0.413													36	76					0	0	1	0	0	A	95442507	G	A	95442507	5	1	93	1	0	0	0	0	0	0	1	0	4842	1043	36	2	233	2	DYNC1I1	7	95442507	Splice_Site	SNP	G	TCGA-DJ-A2Q1-01A-22D-A19J-08		95442507	63696156	3	1626											
C15orf39	56905	broad.mit.edu	37	chr15	75501019	75501019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggagctgcggcccaccaCgctgtcggaggagcgggcac	17	13	0	0			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr15:75501019C>T	uc002azp.4	+	1	2950	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	C15orf39_uc002azq.4_Missense_Mutation_p.T877M|C15orf39_uc021sqm.1_Missense_Mutation_p.T636M|C15orf39_uc002azr.4_Missense_Mutation_p.T275M	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	877										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CGGCCCACCACGCTGTCGGAG	0.667													4	15					0	0	1	0	0	T	75501019	C	T	75501019	3	4	93	1	0	0	0	0	1	0	0	0	1793	536	19	1	2632	1	C15orf39	15	75501019	Missense_Mutation	SNP	C	TCGA-DJ-A2Q1-01A-22D-A19J-08		75501019	27030373	4	1627											
WNK4	65266	broad.mit.edu	37	chr17	40948252	40948253	+	Missense_Mutation	DNP	GC	GC	AG													attgtggccccagctgctatGctgtccagccgccagcgccg							TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr17:40948252_40948253GC>AG	uc002ibj.3	+	16	3611_3612	c.3543_3544GC>AG	c.(3541-3546)atgctg>atAGtg	p.1181_1182ML>IV	WNK4_uc010wgx.2_Missense_Mutation_p.845_846ML>IV|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.4_5'Flank|CNTD1_uc010wha.2_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1181					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCTGCTATGCTGTCCAGCCG	0.609													7	17					0	0	1	0	0	AG	40948253	GC	AG	40948252	3	1	93	1	0	0	0	0	1	0	0	0	17377	1319	46	2	3609	2	WNK4	17	40948252	Missense_Mutation	DNP	GC	TCGA-DJ-A2Q1-01A-22D-A19J-08		40948252	40246958	5	1628											
METRNL	284207	broad.mit.edu	37	chr17	81042863	81042863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggagcaggtgtatctgCgctgtgcggcgggtgccgtg	20	8	1	0			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr17:81042863C>T	uc002kgh.3	+	1	345	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	METRNL_uc002kgi.3_5'UTR	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	74						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGTGTATCTGCGCTGTGCGGC	0.652													5	62					0	0	1	0	0	T	81042863	C	T	81042863	3	4	93	1	0	0	0	0	1	0	0	0	9489	768	27	1	226	1	METRNL	17	81042863	Missense_Mutation	SNP	C	TCGA-DJ-A2Q1-01A-22D-A19J-08	40094611	81042863	152347	6	1629											
CD209	30835	broad.mit.edu	37	chr19	7810588	7810588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtagatctcctgctgCttagatttctctggaagctc	9	11	2	2	rs112592254		TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr19:7810588C>G	uc002mht.2	-	3	631	c.564G>C	c.(562-564)aaG>aaC	p.K188N	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.K164N|CD209_uc002mhr.2_Missense_Mutation_p.K164N|CD209_uc002mhs.2_Missense_Mutation_p.K164N|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Missense_Mutation_p.K188N|CD209_uc002mhq.2_Missense_Mutation_p.K188N|CD209_uc002mhv.2_Missense_Mutation_p.K164N|CD209_uc002mhx.2_Missense_Mutation_p.K144N|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	188	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCTGCTTAGATTTCT	0.557													13	130					0	0	1	0	0	G	7810588	C	G	7810588	3	3	93	1	0	0	0	0	1	0	0	0	2984	796	28	4	666	4	CD209	19	7810588	Missense_Mutation	SNP	C	TCGA-DJ-A2Q1-01A-22D-A19J-08		7810588	51318395	7	1630											
ATP1A1	476	broad.mit.edu	37	chr1	116932301	116932301	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtatcatcgtagccaatgTgccggaaggtttgctggcca	13	10	1	0			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr1:116932301T>G	uc001ege.3	+	7	1334	c.995T>G	c.(994-996)gTg>gGg	p.V332G	ATP1A1_uc010owv.1_Missense_Mutation_p.V301G|ATP1A1_uc010oww.2_Missense_Mutation_p.V332G|ATP1A1_uc010owx.2_Missense_Mutation_p.V301G	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	332					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GTAGCCAATGTGCCGGAAGGT	0.507													12	26					0	0	1	0	0	G	116932301	T	G	116932301	3	3	94	1	0	0	0	0	1	0	0	0	1128	1696	59	5	1041	5	ATP1A1	1	116932301	Missense_Mutation	SNP	T	TCGA-DJ-A2Q2-01A-11D-A19J-08		116932301	132318320	1	1631											
DNMT3A	1788	broad.mit.edu	37	chr2	25470535	25470535	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccggcccgtcatccaCcaagacacaatgcggcctgg	11	17	1	1			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:25470535C>T	uc002rgc.3	-	7	1196	c.939G>A	c.(937-939)tgG>tgA	p.W313*	DNMT3A_uc002rgd.3_Nonsense_Mutation_p.W313*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.W124*	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	313	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.S312F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCATCCACCAAGACACAA	0.637			"Mis, F, N, S"		AML								7	68					0	0	1	0	0	T	25470535	C	T	25470535	4	4	94	1	0	0	0	0	0	1	0	0	4676	508	18	2	1863	2	DNMT3A	2	25470535	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q2-01A-11D-A19J-08		25470535	217728838	2	1632											
HADHA	3030	broad.mit.edu	37	chr2	26457150	26457150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctttgtggacttttcaaGtttctcaactattctctgtg	8	8	3	0	rs75929560		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:26457150G>T	uc002rgy.3	-	4	518	c.388C>A	c.(388-390)Ctt>Att	p.L130I	HADHA_uc010yks.2_Missense_Mutation_p.L43I|HADHA_uc010ykt.1_Missense_Mutation_p.L43I	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	130					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GACTTTTCAAGTTTCTCAACT	0.423													5	79					0	0	1	0	0	T	26457150	G	T	26457150	3	4	94	1	0	0	0	0	1	0	0	0	6943	1029	36	4	1967	4	HADHA	2	26457150	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	986615	26457150	216742223	3	1633											
C1QL2	165257	broad.mit.edu	37	chr2	119915192	119915192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagaggtccgcccacatGctggtgccgtcgccgccgcg	14	16	0	1			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:119915192G>A	uc002tlo.2	-	0	1280	c.654C>T	c.(652-654)agC>agT	p.S218S		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	218	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CCGCCCACATGCTGGTGCCGT	0.642										HNSCC(49;0.14)			10	28					0	0	1	0	0	A	119915192	G	A	119915192	2	1	94	1	0	0	0	0	0	0	0	1	1959	1310	46	2		2	C1QL2	2	119915192	Silent	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	93458042	119915192	123284181	4	1634											
GRXCR1	389207	broad.mit.edu	37	chr4	42964970	42964970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccacctgccttcgtgtggTccggacaacctttgaaagat	9	12	0	2			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr4:42964970T>C	uc003gwt.3	+	1	447	c.446T>C	c.(445-447)gTc>gCc	p.V149A		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	149	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTTCGTGTGGTCCGGACAACC	0.388													4	80					0	0	1	0	0	C	42964970	T	C	42964970	3	2	94	1	0	0	0	0	1	0	0	0	6812	1667	58	3	452	3	GRXCR1	4	42964970	Missense_Mutation	SNP	T	TCGA-DJ-A2Q2-01A-11D-A19J-08		42964970	148189306	5	1635											
CTNND2	1501	broad.mit.edu	37	chr5	11098687	11098687	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaatgaactggccatacCttccagctccctgcagccaa	7	14	0	1			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:11098687C>T	uc003jfa.1	-	15	2782	c.2637_splice	c.e15+1	p.K879_splice	CTNND2_uc010itt.2_Splice_Site_p.K788_splice|CTNND2_uc011cmy.1_Splice_Site_p.K542_splice|CTNND2_uc011cmz.1_Splice_Site_p.K446_splice|CTNND2_uc010itu.1_Splice_Site|CTNND2_uc011cmx.1_Splice_Site_p.K446_splice	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	879					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGGCCATACCTTCCAGCTCC	0.463													4	62					0	0	1	0	0	T	11098687	C	T	11098687	5	4	94	1	0	0	0	0	0	0	1	0	4020	695	24	2	1072	2	CTNND2	5	11098687	Splice_Site	SNP	C	TCGA-DJ-A2Q2-01A-11D-A19J-08		11098687	169816573	6	1636											
RASGRF2	5924	broad.mit.edu	37	chr5	80508237	80508237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgctgatgtcagctcccGtgccaacgccatcgagaaat	9	13	1	2			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:80508237G>A	uc003kha.2	+	22	3259	c.3209G>A	c.(3208-3210)cGt>cAt	p.R1070H	RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	1070	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GTCAGCTCCCGTGCCAACGCC	0.542													11	34					0	0	1	0	0	A	80508237	G	A	80508237	3	1	94	1	0	0	0	0	1	0	0	0	13073	1145	40	1	3299	1	RASGRF2	5	80508237	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	69409550	80508237	100407023	7	1637											
TWISTNB	221830	broad.mit.edu	37	chr7	19738204	19738204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttccattggagtgtcatctGcatcatctgctagctttgtg	9	10	4	0			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr7:19738204G>C	uc003sup.1	-	3	773	c.752C>G	c.(751-753)gCa>gGa	p.A251G		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	251	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AGTGTCATCTGCATCATCTGC	0.433													10	224					0	0	1	0	0	C	19738204	G	C	19738204	3	2	94	1	0	0	0	0	1	0	0	0	16781	1319	46	4	268	4	TWISTNB	7	19738204	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08		19738204	139400459	8	1638											
KTN1	3895	broad.mit.edu	37	chr14	56139949	56139949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcatattctgaagcagtAagacagaatgaagagctaaa	9	5	2	5			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr14:56139949A>G	uc001xcb.3	+	40	4049	c.3747A>G	c.(3745-3747)gtA>gtG	p.V1249V	KTN1_uc001xcc.3_Silent_p.V1249V|KTN1_uc001xcd.3_Intron|KTN1_uc001xce.3_Intron|KTN1_uc010trb.2_Intron|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.3_Intron|KTN1_uc010trc.2_Intron|KTN1_uc001xcg.3_Intron	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	1249					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTGAAGCAGTAAGACAGAATG	0.373			T	RET	papillary thryoid								3	17					0	0	1	0	0	G	56139949	A	G	56139949	2	3	94	1	0	0	0	0	0	0	0	1	8585	349	13	3		3	KTN1	14	56139949	Silent	SNP	A	TCGA-DJ-A2Q2-01A-11D-A19J-08		56139949	51209591	9	1639											
CNTNAP1	8506	broad.mit.edu	37	chr17	40836233	40836233	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacaccgttctaccagCgagggcacaactcggtactc	11	14	1	0			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr17:40836233C>T	uc002iay.3	+	2	565	c.349C>T	c.(349-351)Cga>Tga	p.R117*	CCR10_uc002iax.4_5'Flank|CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	117	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTCTACCAGCGAGGGCACAA	0.612													17	134					0	0	1	0	0	T	40836233	C	T	40836233	4	4	94	1	0	0	0	0	0	1	0	0	3646	760	27	1	359	1	CNTNAP1	17	40836233	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q2-01A-11D-A19J-08		40836233	40358977	10	1640											
PSG3	5671	broad.mit.edu	37	chr19	43382240	43382240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatatataattatttcaccGtctactacatatgatgtaat	3	8	2	1	rs1058959		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr19:43382240G>A	uc002ovd.1	-	1	393	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.D85D|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.D85D|PSG3_uc002ova.2_Silent_p.D85D|PSG3_uc002ouz.2_Silent_p.D85D|PSG3_uc002ovb.3_Silent_p.D85D	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	85	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.D85E(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTATTTCACCGTCTACTACAT	0.448													18	438					0	0	1	0	0	A	43382240	G	A	43382240	2	1	94	1	0	0	0	0	0	0	0	1	12656	1136	40	1		1	PSG3	19	43382240	Silent	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08		43382240	15746743	11	1641											
PTCHD1	139411	broad.mit.edu	37	chrX	23411839	23411839	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcacagttgtgtccgtggAgtttggagtgataggtttca	13	6	2	1			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:23411839A>T	uc004dal.4	+	2	2212	c.2204A>T	c.(2203-2205)gAg>gTg	p.E735V		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	735					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.A735D(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GTGTCCGTGGAGTTTGGAGTG	0.413													4	78					0	0	1	0	0	T	23411839	A	T	23411839	3	4	94	1	0	0	0	0	1	0	0	0	12732	304	11	5	2214	5	PTCHD1	23	23411839	Missense_Mutation	SNP	A	TCGA-DJ-A2Q2-01A-11D-A19J-08		23411839	131858721	12	1642											
COL4A6	1288	broad.mit.edu	37	chrX	107417689	107417689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactttctcctggcattcctGggaaacctgtgatcccagag	9	13	1	2			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:107417689G>C	uc004enw.4	-	30	3225	c.3122C>G	c.(3121-3123)cCa>cGa	p.P1041R	COL4A6_uc004env.4_Missense_Mutation_p.P1040R|COL4A6_uc011msn.2_Missense_Mutation_p.P1040R|COL4A6_uc010npk.3_Missense_Mutation_p.P1040R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1041	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGGCATTCCTGGGAAACCTGT	0.547									Alport syndrome with Diffuse Leiomyomatosis				11	85					0	0	1	0	0	C	107417689	G	C	107417689	3	2	94	1	0	0	0	0	1	0	0	0	3695	1348	47	4	2013	4	COL4A6	23	107417689	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	84005850	107417689	47852871	13	1643											
FCRL5	83416	broad.mit.edu	37	chr1	157504590	157504590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtataggatttgtggggaacCtctctggacttcacagtgaa	12	7	2	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr1:157504590C>A	uc009wsm.3	-	7	1653	c.1495G>T	c.(1495-1497)Ggt>Tgt	p.G499C	FCRL5_uc001fqu.3_Missense_Mutation_p.G499C|FCRL5_uc010phv.1_Missense_Mutation_p.G499C|FCRL5_uc010phw.1_Missense_Mutation_p.G414C|FCRL5_uc001fqv.1_Missense_Mutation_p.G499C|FCRL5_uc010phx.2_Missense_Mutation_p.G250C	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	499	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTGGGGAACCTCTCTGGACT	0.527													12	42					0	0	1	0	0	A	157504590	C	A	157504590	3	1	95	1	0	0	0	0	1	0	0	0	5798	681	24	4	1478	4	FCRL5	1	157504590	Missense_Mutation	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08		157504590	91746031	1	1644											
LYPD6B	130576	broad.mit.edu	37	chr2	150017336	150017336	+	Frame_Shift_Del	DEL	T	T	-													agaggagcctgacaaccacaTtctccttctcaaggtaagaa							TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:150017336delT	uc002twv.1	+	2	465	c.64delT	c.(64-66)ttcfs	p.F22fs	LYPD6B_uc002tww.1_Intron|LYPD6B_uc002twx.1_Intron	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	Homo sapiens LY6/PLAUR domain containing 6B (LYPD6B), mRNA.	0						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GACAACCACATTCTCCTTCTC	0.468													2	4	---	---	---	---						-	150017336	T	-	150017336	7	5	95	1	0	1	0	1	0	0	0	0	9115	1493	52	0	70	0	LYPD6B	2	150017336	Frame_Shift_Del	DEL	T	TCGA-DJ-A2Q3-01A-11D-A18F-08		150017336	93182037	2	1645											
TTN	7273	broad.mit.edu	37	chr2	179419249	179419249	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatatttgttcacggctcGgacccggaagatgtattcat	9	10	2	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:179419249G>A	uc021vsy.1	-	280	81346	c.81121C>T	c.(81121-81123)Cga>Tga	p.R27041*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R20736*|TTN_uc021vta.1_Nonsense_Mutation_p.R20669*|TTN_uc021vtb.1_Nonsense_Mutation_p.R20544*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27968	Fibronectin type-III 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACGGCTCGGACCCGGAAG	0.433													9	21					0	0	1	0	0	A	179419249	G	A	179419249	4	1	95	1	0	0	0	0	0	1	0	0	16732	1124	39	1	19278	1	TTN	2	179419249	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08	29401913	179419249	63780124	3	1646											
D2HGDH	728294	broad.mit.edu	37	chr2	242680473	242680473	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggtgctgctgaggccAcggacgtcggaggaggtgtc	18	9	0	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:242680473A>G	uc002wce.1	+	2	491	c.318A>G	c.(316-318)ccA>ccG	p.P106P	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_5'UTR|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	106	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGCTGAGGCCACGGACGTCGG	0.622													4	26					0	0	1	0	0	G	242680473	A	G	242680473	2	3	95	1	0	0	0	0	0	0	0	1	4213	146	6	3		3	D2HGDH	2	242680473	Silent	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	63261224	242680473	518900	4	1647											
CCRL1	51554	broad.mit.edu	37	chr3	132319255	132319255	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagccatggctttggaacAgaaccagtcaacagattatt	10	8	1	2			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr3:132319255A>C	uc003eow.3	+	1	97	c.14A>C	c.(13-15)cAg>cCg	p.Q5P	NPHP3_uc003eov.4_Intron|NPHP3_uc011blr.1_Intron|CCRL1_uc003eox.3_Missense_Mutation_p.Q5P	NM_016557	NP_848540	Q9NPB9	CCRL1_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 1 (CCRL1), transcript variant 2, mRNA.	5					chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity			breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17						GCTTTGGAACAGAACCAGTCA	0.338													5	7					0	0	1	0	0	C	132319255	A	C	132319255	3	2	95	1	0	0	0	0	1	0	0	0	2949	188	7	5	16	5	CCRL1	3	132319255	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		132319255	65703175	5	1648											
GPR151	134391	broad.mit.edu	37	chr5	145895152	145895152	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatgcctgatggtgctAaagaaccattccggcagggg	13	9	1	3			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr5:145895152A>T	uc003lod.1	-	0	525	c.525T>A	c.(523-525)ttT>ttA	p.F175L		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	175						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATGGTGCTAAAGAACCATT	0.522													12	39					0	0	1	0	0	T	145895152	A	T	145895152	3	4	95	1	0	0	0	0	1	0	0	0	6657	359	13	5	738	5	GPR151	5	145895152	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		145895152	35020108	6	1649											
ZNF679	168417	broad.mit.edu	37	chr7	63720697	63720697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatatagagatgtgatgttAgagaactacagaaacctggt	10	4	0	4			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr7:63720697A>G	uc003tsx.3	+	2	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGTGATGTTAGAGAACTACA	0.378													3	124					0	0	1	0	0	G	63720697	A	G	63720697	2	3	95	1	0	0	0	0	0	0	0	1	18083	417	15	3		3	ZNF679	7	63720697	Silent	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		63720697	95417966	7	1650											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	50					0	0	1	0	0	T	140453136	A	T	140453136	3	4	95	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	76732439	140453136	18685527	8	1651											
SH2D4A	63898	broad.mit.edu	37	chr8	19231046	19231046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttataaataacagaaatcAgggagtggtgaggacactgt	11	4	1	2			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:19231046A>G	uc003wzb.3	+	7	1381	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	SH2D4A_uc011kym.2_Missense_Mutation_p.Q263R|SH2D4A_uc003wzc.3_Missense_Mutation_p.Q308R	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 1, mRNA.	308						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AACAGAAATCAGGGAGTGGTG	0.383													3	30					0	0	1	0	0	G	19231046	A	G	19231046	3	3	95	1	0	0	0	0	1	0	0	0	14235	188	7	3	999	3	SH2D4A	8	19231046	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		19231046	127132976	9	1652											
NEFM	4741	broad.mit.edu	37	chr8	24774945	24774945	+	Frame_Shift_Del	DEL	A	A	-													agttaaagaagaggaaggggAaaaggaggaagaagaaggcc							TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:24774945delA	uc003xed.4	+	2	1610	c.1577delA	c.(1576-1578)gaafs	p.E526fs	NEFM_uc011lac.1_Frame_Shift_Del_p.E526fs|NEFM_uc010lue.3_Frame_Shift_Del_p.E150fs	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	526	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaggaaggggaaaaggaggaa	0.488													2	4	---	---	---	---						-	24774945	A	-	24774945	7	5	95	1	0	1	0	1	0	0	0	0	10316	246	9	0	1587	0	NEFM	8	24774945	Frame_Shift_Del	DEL	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	5543899	24774945	121589077	10	1653											
EBF2	64641	broad.mit.edu	37	chr8	25890631	25890631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgggtccgatggagtcTcatttcggtttccacagctt	11	10	1	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:25890631T>C	uc003xes.2	-	5	786	c.521A>G	c.(520-522)gAg>gGg	p.E174G	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.E174G	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	174					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CGATGGAGTCTCATTTCGGTT	0.393													3	79					0	0	1	0	0	C	25890631	T	C	25890631	3	2	95	1	0	0	0	0	1	0	0	0	4881	1551	54	3	1250	3	EBF2	8	25890631	Missense_Mutation	SNP	T	TCGA-DJ-A2Q3-01A-11D-A18F-08	1115686	25890631	120473391	11	1654											
UNC13B	10497	broad.mit.edu	37	chr9	35399705	35399705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagcagtgtgcagtccttgaCctcgccctggacaccatcaa	9	14	1	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr9:35399705C>G	uc003zwr.3	+	34	4360	c.4068C>G	c.(4066-4068)gaC>gaG	p.D1356E	UNC13B_uc003zwq.3_Missense_Mutation_p.D1356E	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1356	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTCCTTGACCTCGCCCTGG	0.547													11	159					0	0	1	0	0	G	35399705	C	G	35399705	3	3	95	1	0	0	0	0	1	0	0	0	16982	506	18	4	4206	4	UNC13B	9	35399705	Missense_Mutation	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08		35399705	105813726	12	1655											
IFFO1	25900	broad.mit.edu	37	chr12	6659951	6659951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggcatcagcctcctgGgcttcctgcagttgggagaa	14	11	1	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:6659951G>A	uc010sfe.2	-	2	894	c.840C>T	c.(838-840)gcC>gcT	p.A280A	IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_5'Flank|IFFO1_uc001qpa.2_5'Flank|IFFO1_uc001qpb.1_5'Flank|IFFO1_uc001qpc.2_Silent_p.A280A|IFFO1_uc001qpf.2_Silent_p.A280A|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_5'Flank	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	280						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CAGCCTCCTGGGCTTCCTGCA	0.582													11	43					0	0	1	0	0	A	6659951	G	A	6659951	2	1	95	1	0	0	0	0	0	0	0	1	7510	1219	43	2		2	IFFO1	12	6659951	Silent	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08		6659951	127191944	13	1656											
FGD4	121512	broad.mit.edu	37	chr12	32778653	32778653	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgacaatgtgtatgaaAtgtaaagaacctttcaatgc	9	5	1	3			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:32778653A>T	uc010ske.2	+	13	2121	c.2037A>T	c.(2035-2037)aaA>aaT	p.K679N	FGD4_uc001rlc.3_Missense_Mutation_p.K652N|FGD4_uc001rky.3_Missense_Mutation_p.K319N|FGD4_uc001rkz.3_Missense_Mutation_p.K567N|FGD4_uc001rla.3_Missense_Mutation_p.K223N|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	567	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTGTATGAAATGTAAAGAAC	0.378													8	49					0	0	1	0	0	T	32778653	A	T	32778653	3	4	95	1	0	0	0	0	1	0	0	0	5835	98	4	5	1747	5	FGD4	12	32778653	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	26118702	32778653	101073242	14	1657											
MARCH10	162333	broad.mit.edu	37	chr17	60837359	60837359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagttagagcatcctcctcActagaactctaccaaaaatg	5	12	3	2			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr17:60837359A>C	uc010dds.3	-	3	504	c.219T>G	c.(217-219)agT>agG	p.S73R	MARCH10_uc010ddr.3_Missense_Mutation_p.S73R|MARCH10_uc002jag.4_Missense_Mutation_p.S73R|MARCH10_uc002jah.2_Missense_Mutation_p.S73R	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	73							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CATCCTCCTCACTAGAACTCT	0.423													13	52					0	0	1	0	0	C	60837359	A	C	60837359	3	2	95	1	0	0	0	0	1	0	0	0	9299	156	6	5	2239	5	MARCH10	17	60837359	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		60837359	20357851	15	1658											
GNAL	2774	broad.mit.edu	37	chr18	11753670	11753670	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatccggaaaaatgttaaaGatgctatcgtggtaaggact	10	6	0	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr18:11753670G>A	uc002kqc.2	+	2	920	c.493G>A	c.(493-495)Gat>Aat	p.D165N	GNAL_uc002kqd.2_Missense_Mutation_p.D88N|GNAL_uc010dkz.2_Missense_Mutation_p.D88N	NM_182978	NP_892023	P38405	GNAL_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.	88					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAATGTTAAAGATGCTATCGT	0.318													11	16					0	0	1	0	0	A	11753670	G	A	11753670	3	1	95	1	0	0	0	0	1	0	0	0	6507	942	33	2	652	2	GNAL	18	11753670	Missense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08		11753670	66323578	16	1659											
UBXN6	80700	broad.mit.edu	37	chr19	4446104	4446104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcttctgccctcccgagGccagcagctcaaaaggcagc	10	16	2	0			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:4446104G>A	uc002man.2	-	9	1239	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	UBXN6_uc002mam.2_Missense_Mutation_p.A328V	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	381	UBX.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCCTCCCGAGGCCAGCAGCTC	0.677													8	36					0	0	1	0	0	A	4446104	G	A	4446104	3	1	95	1	0	0	0	0	1	0	0	0	16914	1203	42	2	191	2	UBXN6	19	4446104	Missense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08		4446104	54682879	17	1660											
KDM4B	23030	broad.mit.edu	37	chr19	5111518	5111518	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggacacggaggcaggtccCggcctaggaggagatccact	17	11	0	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:5111518C>G	uc010xil.1	+	10	1474	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	KDM4B_uc002mbq.4_Intron|KDM4B_uc010xim.2_Intron|KDM4B_uc002mbr.4_Intron	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	414					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGCAGGTCCCGGCCTAGGAG	0.642													3	34					0	0	1	0	0	G	5111518	C	G	5111518	2	3	95	1	0	0	0	0	0	0	0	1	8129	667	23	4		4	KDM4B	19	5111518	Silent	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08	665414	5111518	54017465	18	1661											
C19orf60	55049	broad.mit.edu	37	chr19	18701721	18701721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggcaggaggacgctgtaCggatgcagcagctgaaaatg	17	8	0	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:18701721C>T	uc002njv.4	+	3	628	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	C19orf60_uc002nju.2_Missense_Mutation_p.R183W|C19orf60_uc010ebs.3_Missense_Mutation_p.R149W	NM_001100418	NP_001093888	Q96EN9	CS060_HUMAN	Homo sapiens chromosome 19 open reading frame 60 (C19orf60), transcript variant 1, mRNA.	171							protein binding										GGACGCTGTACGGATGCAGCA	0.622													3	11					0	0	1	0	0	T	18701721	C	T	18701721	3	4	95	1	0	0	0	0	1	0	0	0	1942	527	19	1	525	1	C19orf60	19	18701721	Missense_Mutation	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08	13590203	18701721	40427262	19	1662											
TRPM4	54795	broad.mit.edu	37	chr19	49671841	49671841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaggtaccggtggcgcgGtgacccggaggacggggtcc	20	11	0	1			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:49671841G>A	uc002pmw.3	+	5	752	c.644G>A	c.(643-645)gGt>gAt	p.G215D	TRPM4_uc010emu.3_Missense_Mutation_p.G215D|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.G41D|TRPM4_uc010emv.3_Missense_Mutation_p.G100D|TRPM4_uc010yal.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	215					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.R214R(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGTGGCGCGGTGACCCGGAG	0.657													12	37					0	0	1	0	0	A	49671841	G	A	49671841	3	1	95	1	0	0	0	0	1	0	0	0	16585	1261	44	2	666	2	TRPM4	19	49671841	Missense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08	30970120	49671841	9457142	20	1663											
DNAJC16	23341	broad.mit.edu	37	chr1	15863305	15863305	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcattcaagaactggaagaAttgggtaagataattttatt	9	3	2	3			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:15863305A>T	uc001aws.3	+	3	690	c.570A>T	c.(568-570)gaA>gaT	p.E190D	DNAJC16_uc001awr.1_Missense_Mutation_p.E190D|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	190	Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AACTGGAAGAATTGGGTAAGA	0.398													17	24					0	0	1	0	0	T	15863305	A	T	15863305	3	4	96	1	0	0	0	0	1	0	0	0	4635	98	4	5	580	5	DNAJC16	1	15863305	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		15863305	233387316	1	1664											
TTLL7	79739	broad.mit.edu	37	chr1	84376919	84376919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttttctcttttcttaTtttggtactcttctttttca	3	9	5	0			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:84376919T>C	uc001djc.3	-	14	2111	c.1715A>G	c.(1714-1716)aAt>aGt	p.N572S	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript|HH834010_uc021ooz.1_5'Flank	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	572					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCTTTTCTTATTTTGGTACTC	0.338													9	51					0	0	1	0	0	C	84376919	T	C	84376919	3	2	96	1	0	0	0	0	1	0	0	0	16729	1493	52	3	976	3	TTLL7	1	84376919	Missense_Mutation	SNP	T	TCGA-DJ-A2Q4-01A-21D-A18F-08	68513614	84376919	164873702	2	1665											
HRNR	388697	broad.mit.edu	37	chr1	152193154	152193154	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggccgtggctggaggagtgCcccgaaccggacccatgtcg	16	13	0	0			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:152193154C>G	uc001ezt.1	-	2	1027	c.951G>C	c.(949-951)ggG>ggC	p.G317G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	317					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAGGAGTGCCCCGAACCGG	0.612													3	110					0	0	1	0	0	G	152193154	C	G	152193154	2	3	96	1	0	0	0	0	0	0	0	1	7359	726	26	4		4	HRNR	1	152193154	Silent	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08	67816235	152193154	97057467	3	1666											
CDH10	1008	broad.mit.edu	37	chr5	24537754	24537754	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataagatatatttgagtgaTccatctcctttatcttggtc	7	7	2	3			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr5:24537754T>A	uc003jgr.2	-	2	767	c.261A>T	c.(259-261)ggA>ggT	p.G87G	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	87	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G87*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTTGAGTGATCCATCTCCTT	0.373										HNSCC(23;0.051)			6	13					0	0	1	0	0	A	24537754	T	A	24537754	2	1	96	1	0	0	0	0	0	0	0	1	3096	1422	50	5		5	CDH10	5	24537754	Silent	SNP	T	TCGA-DJ-A2Q4-01A-21D-A18F-08		24537754	156377506	4	1667											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826174	34826174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgcctcagcctaatAccctccctccccagagacct	5	21	1	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr6:34826174A>G	uc003oju.4	+	13	2275	c.2041A>G	c.(2041-2043)Acc>Gcc	p.T681A	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	681										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCAGCCTAATACCCTCCCTCC	0.488													4	130					0	0	1	0	0	G	34826174	A	G	34826174	3	3	96	1	0	0	0	0	1	0	0	0	16965	391	14	3	2095	3	UHRF1BP1	6	34826174	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		34826174	136288893	5	1668											
PLXNA4	91584	broad.mit.edu	37	chr7	131870080	131870080	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacaatgctccattctggctCaatccgcacgatggtggggt	12	11	2	0			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr7:131870080C>G	uc003vra.4	-	15	3365	c.3136G>C	c.(3136-3138)Gag>Cag	p.E1046Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1046	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATTCTGGCTCAATCCGCACG	0.547													3	60					0	0	1	0	0	G	131870080	C	G	131870080	3	3	96	1	0	0	0	0	1	0	0	0	12122	835	29	4	2616	4	PLXNA4	7	131870080	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08		131870080	27268583	6	1669											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	27					0	0	1	0	0	T	140453136	A	T	140453136	3	4	96	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08	8583056	140453136	18685527	7	1670											
KCNS2	3788	broad.mit.edu	37	chr8	99441073	99441073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcacacctactttagccaActtgggcagggtggcccagg	13	12	0	0			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr8:99441073A>G	uc003yin.3	+	1	1216	c.866A>G	c.(865-867)aAc>aGc	p.N289S	KCNS2_uc022azb.1_Missense_Mutation_p.N289S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	289						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACTTTAGCCAACTTGGGCAGG	0.562													5	69					0	0	1	0	0	G	99441073	A	G	99441073	3	3	96	1	0	0	0	0	1	0	0	0	8089	43	2	3	868	3	KCNS2	8	99441073	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		99441073	46922949	8	1671											
SEC16A	9919	broad.mit.edu	37	chr9	139371685	139371685	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaggtgctgaaggtgtcAatgcaccagaaaacggactg	14	8	1	2			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr9:139371685A>C	uc004chx.3	-	2	692	c.383T>G	c.(382-384)tTg>tGg	p.L128W	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.L128W|SEC16A_uc010nbn.3_Missense_Mutation_p.L128W|SEC16A_uc010nbo.1_Missense_Mutation_p.L128W	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2098					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGAAGGTGTCAATGCACCAGA	0.567													37	55					0	0	1	0	0	C	139371685	A	C	139371685	3	2	96	1	0	0	0	0	1	0	0	0	13986	131	5	5	6810	5	SEC16A	9	139371685	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		139371685	1841746	9	1672											
OR52N4	390072	broad.mit.edu	37	chr11	5776224	5776224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaatccctaaagccctctGcatcttctggtttcatctca	4	14	5	0			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:5776224G>A	uc001mbu.3	+	0	302	c.254G>A	c.(253-255)tGc>tAc	p.C85Y	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AAAGCCCTCTGCATCTTCTGG	0.468													31	37					0	0	1	0	0	A	5776224	G	A	5776224	3	1	96	1	0	0	0	0	1	0	0	0	11129	1319	46	2	256	2	OR52N4	11	5776224	Missense_Mutation	SNP	G	TCGA-DJ-A2Q4-01A-21D-A18F-08		5776224	129230292	10	1673											
DENND5A	23258	broad.mit.edu	37	chr11	9161345	9161345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacatcctcatacatgTgtgcagtgatggggcagtca	12	10	2	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:9161345T>C	uc001mhl.3	-	22	3994	c.3737A>G	c.(3736-3738)cAc>cGc	p.H1246R	DENND5A_uc001mhk.3_Missense_Mutation_p.H589R|DENND5A_uc010rbw.2_Missense_Mutation_p.T1235A	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	1246	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCATACATGTGTGCAGTGAT	0.542													14	25					0	0	1	0	0	C	9161345	T	C	9161345	3	2	96	1	0	0	0	0	1	0	0	0	4436	1696	59	3	130	3	DENND5A	11	9161345	Missense_Mutation	SNP	T	TCGA-DJ-A2Q4-01A-21D-A18F-08	3385121	9161345	125845171	11	1674											
CD248	57124	broad.mit.edu	37	chr11	66082772	66082772	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagctgggtggcctgggttCtgaggacaagggcatctggg	19	7	2	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:66082772C>A	uc001ohm.1	-	0	1744	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	576	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L575L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGCCTGGGTTCTGAGGACAAG	0.607													37	48					0	0	1	0	0	A	66082772	C	A	66082772	3	1	96	1	0	0	0	0	1	0	0	0	2989	913	32	4	550	4	CD248	11	66082772	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08	56921427	66082772	68923744	12	1675											
CD163	9332	broad.mit.edu	37	chr12	7651554	7651554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagagctgactcatttcCgttgcatataagatcatcaa	7	10	3	3			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr12:7651554C>T	uc001qsz.3	-	3	816	c.688G>A	c.(688-690)Gga>Aga	p.G230R	CD163_uc001qta.3_Missense_Mutation_p.G230R|CD163_uc009zfw.2_Missense_Mutation_p.G230R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	230	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.N229K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GACTCATTTCCGTTGCATATA	0.433													10	183					0	0	1	0	0	T	7651554	C	T	7651554	3	4	96	1	0	0	0	0	1	0	0	0	2967	661	23	1	2834	1	CD163	12	7651554	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08		7651554	126200341	13	1676											
DNAH3	55567	broad.mit.edu	37	chr16	21170720	21170720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggctgggcccggatgggGaggggcggccagtgtgagct	21	8	0	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:21170720G>A	uc010vbe.2	-	0	43	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	TMEM159_uc010vbf.2_Intron|TMEM159_uc002dih.4_Intron|TMEM159_uc002dif.4_Intron|TMEM159_uc002dig.4_Intron	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	15	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCGGATGGGGAGGGGCGGCC	0.622													48	68					0	0	1	0	0	A	21170720	G	A	21170720	3	1	96	1	0	0	0	0	1	0	0	0	4603	1174	41	2	12554	2	DNAH3	16	21170720	Missense_Mutation	SNP	G	TCGA-DJ-A2Q4-01A-21D-A18F-08		21170720	69184033	14	1677											
NUP93	9688	broad.mit.edu	37	chr16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccttcagcaagctgaaCagcttgctgctgagactgag	11	11	1	3			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:56782202C>T	uc002eka.3	+	1	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*		NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	15					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.E14K(3)|p.Q15*(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517													17	38					0	0	1	0	0	T	56782202	C	T	56782202	4	4	96	1	0	0	0	0	0	1	0	0	10772	479	17	2	45	2	NUP93	16	56782202	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08	35611482	56782202	33572551	15	1678											
CWC25	54883	broad.mit.edu	37	chr17	36959028	36959028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccttagcatgcctcttgAggatgttcagtctctcctcc	7	14	3	1			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr17:36959028A>G	uc002hqu.3	-	8	1241	c.1088T>C	c.(1087-1089)cTc>cCc	p.L363P	CWC25_uc010wdv.2_Missense_Mutation_p.L300P|CWC25_uc010wdw.1_Non-coding_Transcript|PIP4K2B_uc002hqs.3_5'Flank|PIP4K2B_uc021twj.1_5'Flank	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	363										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ATGCCTCTTGAGGATGTTCAG	0.517													3	114					0	0	1	0	0	G	36959028	A	G	36959028	3	3	96	1	0	0	0	0	1	0	0	0	4069	304	11	3	197	3	CWC25	17	36959028	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		36959028	44236182	16	1679											
DLG1	1739	broad.mit.edu	37	chr3	196857455	196857455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacatacttgtgggttttgCcactttcaaataaacaaaat	5	7	1	0			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr3:196857455C>T	uc003fxn.4	-	11	1397	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	DLG1_uc011bub.2_Missense_Mutation_p.A287T|DLG1_uc011buc.2_Missense_Mutation_p.A287T|DLG1_uc011bud.2_Missense_Mutation_p.A86T|DLG1_uc003fxo.4_Missense_Mutation_p.A403T|DLG1_uc011bue.2_Missense_Mutation_p.A370T|DLG1_uc010ial.3_Missense_Mutation_p.A403T|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.A370T|DLG1_uc010ian.2_Missense_Mutation_p.A270T	NM_004087	NP_004078	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 2, mRNA.	403	PDZ 2.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTGGGTTTTGCCACTTTCAAA	0.343													4	55					0	0	1	0	0	T	196857455	C	T	196857455	3	4	97	1	0	0	0	0	1	0	0	0	4554	739	26	2	1671	2	DLG1	3	196857455	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		196857455	1164975	1	1680											
TRPC7	57113	broad.mit.edu	37	chr5	135583307	135583307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcgagatctgcaggggccCaaaactctcgttggctggca	13	11	2	1			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr5:135583307C>A	uc003lbn.2	-	6	1918	c.1696G>T	c.(1696-1698)Ggg>Tgg	p.G566W	TRPC7_uc010jef.2_Missense_Mutation_p.G502W|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.G117W|TRPC7_uc010jeh.2_Missense_Mutation_p.G505W|TRPC7_uc010jei.2_Missense_Mutation_p.G450W	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	566					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAGGGGCCCAAAACTCTCG	0.488													5	108					0	0	1	0	0	A	135583307	C	A	135583307	3	1	97	1	0	0	0	0	1	0	0	0	16581	594	21	4	916	4	TRPC7	5	135583307	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		135583307	45331953	2	1681											
CASD1	64921	broad.mit.edu	37	chr7	94183835	94183835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacatccctggatatgCccgttcagtttacagttcat	7	10	2	1			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:94183835C>T	uc003uni.4	+	16	2302	c.2075C>T	c.(2074-2076)gCc>gTc	p.A692V	CASD1_uc003unj.4_Missense_Mutation_p.A692V	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	692						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTGGATATGCCCGTTCAGTT	0.303													4	57					0	0	1	0	0	T	94183835	C	T	94183835	3	4	97	1	0	0	0	0	1	0	0	0	2664	739	26	2	2141	2	CASD1	7	94183835	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		94183835	64954828	3	1682											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431643	117431643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggatttcctctgtcaactCgtgctacaccatgagtcttt	8	11	3	1			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:117431643C>T	uc003vjf.3	-	3	1699	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	536	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTGTCAACTCGTGCTACACC	0.547													33	102					0	0	1	0	0	T	117431643	C	T	117431643	3	4	97	1	0	0	0	0	1	0	0	0	4045	884	31	1	3464	1	CTTNBP2	7	117431643	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08	23247808	117431643	41707020	4	1683											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	41					0	0	1	0	0	T	140453136	A	T	140453136	3	4	97	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q5-01A-11D-A18F-08	23021493	140453136	18685527	5	1684											
ITPR2	3709	broad.mit.edu	37	chr12	26818947	26818947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attattaggcacatcagcaaCaaagaatatgagatcttcca	6	8	2	2			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr12:26818947C>T	uc001rhg.3	-	13	1864	c.1447G>A	c.(1447-1449)Gtt>Att	p.V483I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	483					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.V483F(2)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACATCAGCAACAAAGAATATG	0.338													18	47					0	0	1	0	0	T	26818947	C	T	26818947	3	4	97	1	0	0	0	0	1	0	0	0	7921	478	17	2	6834	2	ITPR2	12	26818947	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		26818947	107032948	6	1685											
CYP1A2	1544	broad.mit.edu	37	chr15	75043604	75043604	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agagccagcggcaacctcatCccacaggagaagattgtcaa	10	12	2	3			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr15:75043604C>G	uc002ayr.1	+	2	970	c.906C>G	c.(904-906)atC>atG	p.I302M		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	302					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GCAACCTCATCCCACAGGAGA	0.562													3	67					0	0	1	0	0	G	75043604	C	G	75043604	3	3	97	1	0	0	0	0	1	0	0	0	4150	845	30	4	912	4	CYP1A2	15	75043604	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		75043604	27487788	7	1686											
DHX8	1659	broad.mit.edu	37	chr17	41582066	41582066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgggatgatgcccaatgAtattcctgagtggaagaagc	12	6	0	4			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr17:41582066A>G	uc002idu.1	+	11	1673	c.1601A>G	c.(1600-1602)gAt>gGt	p.D534G	DHX8_uc010wif.1_Missense_Mutation_p.D443G|DHX8_uc010wig.2_Missense_Mutation_p.D534G	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	534						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGCCCAATGATATTCCTGAG	0.498													6	202					0	0	1	0	0	G	41582066	A	G	41582066	3	3	97	1	0	0	0	0	1	0	0	0	4515	333	12	3	1647	3	DHX8	17	41582066	Missense_Mutation	SNP	A	TCGA-DJ-A2Q5-01A-11D-A18F-08		41582066	39613144	8	1687											
ZNF804A	91752	broad.mit.edu	37	chr2	185802431	185802431	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaatcagaaagattctatCgaaaacgtagacaacattca	6	7	3	4			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr2:185802431C>T	uc002uph.3	+	3	2902	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	770						intracellular	zinc ion binding	p.R770Q(2)|p.R770*(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGATTCTATCGAAAACGTAG	0.338													16	66					0	0	1	0	0	T	185802431	C	T	185802431	4	4	98	1	0	0	0	0	0	1	0	0	18167	876	31	1	2322	1	ZNF804A	2	185802431	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		185802431	57396942	1	1688											
ITM2C	81618	broad.mit.edu	37	chr2	231740375	231740375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtggtgtgctgtatgAggactccctgtcctcccagg	13	13	0	1			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr2:231740375A>G	uc002vqz.3	+	2	422	c.302A>G	c.(301-303)gAg>gGg	p.E101G	ITM2C_uc002vra.3_Missense_Mutation_p.E54G|ITM2C_uc002vrb.3_Missense_Mutation_p.E101G|ITM2C_uc002vrc.3_5'UTR|ITM2C_uc002vrd.3_5'UTR	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	101					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGCTGTATGAGGACTCCCTG	0.567													3	170					0	0	1	0	0	G	231740375	A	G	231740375	3	3	98	1	0	0	0	0	1	0	0	0	7914	304	11	3	312	3	ITM2C	2	231740375	Missense_Mutation	SNP	A	TCGA-DJ-A2Q6-01A-11D-A18F-08	45937944	231740375	11458998	2	1689											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133074	64133074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctacgtcggctgacagCcggttagaactcacttgcag	13	11	2	2			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr3:64133074C>T	uc003dmf.3	-	6	1678	c.1092G>A	c.(1090-1092)cgG>cgA	p.R364R		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	364						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGGCTGACAGCCGGTTAGAAC	0.617													5	137					0	0	1	0	0	T	64133074	C	T	64133074	2	4	98	1	0	0	0	0	0	0	0	1	12487	726	26	2		2	PRICKLE2	3	64133074	Silent	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		64133074	133889356	3	1690											
MARCH6	10299	broad.mit.edu	37	chr5	10414577	10414577	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtcttcatgtgtataacAttactgattgccagcctcat	6	9	3	1			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr5:10414577A>G	uc003jet.1	+	19	2112	c.1929A>G	c.(1927-1929)acA>acG	p.T643T	MARCH6_uc011cmu.1_Silent_p.T595T|MARCH6_uc003jeu.1_Silent_p.T341T|MARCH6_uc011cmv.1_Silent_p.T538T	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	643					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGTGTATAACATTACTGATTG	0.348													4	82					0	0	1	0	0	G	10414577	A	G	10414577	2	3	98	1	0	0	0	0	0	0	0	1	9305	204	8	3		3	MARCH6	5	10414577	Silent	SNP	A	TCGA-DJ-A2Q6-01A-11D-A18F-08		10414577	170500683	4	1691											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	45					0	0	1	0	0	T	140453136	A	T	140453136	3	4	98	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q6-01A-11D-A18F-08		140453136	18685527	5	1692											
FAM22F	54754	broad.mit.edu	37	chr9	97084601	97084601	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgccgggccagggatcGgagaactgggctgtaaacca	14	12	0	1			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr9:97084601G>A	uc004aup.1	-	2	745	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	242										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				GCCAGGGATCGGAGAACTGGG	0.632													4	41					0	0	1	0	0	A	97084601	G	A	97084601	4	1	98	1	0	0	0	0	0	1	0	0	5545	1124	39	1	1566	1	FAM22F	9	97084601	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q6-01A-11D-A18F-08		97084601	44128830	6	1693											
CELF2	10659	broad.mit.edu	37	chr10	11370890	11370890	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcggtattttccaggTtttgttagctacgacaatcc	7	11	1	0			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr10:11370890T>C	uc001ikk.2	+	14	1635	c.1475_splice	c.e14-1	p.G492_splice	CELF2_uc010qbj.1_Splice_Site_p.G473_splice|CELF2_uc001iki.4_Splice_Site_p.G467_splice|CELF2_uc001ikl.4_Splice_Site_p.G480_splice|CELF2_uc010qbl.1_Splice_Site_p.G443_splice|CELF2_uc010qbm.1_Splice_Site_p.G239_splice|CELF2_uc001iko.4_Splice_Site_p.G447_splice|CELF2_uc001ikp.4_Splice_Site_p.G449_splice|CELF2_uc010qbo.1_Splice_Site_p.G362_splice|CELF2_uc010qbp.1_Splice_Site_p.G239_splice	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	467	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATTTTCCAGGTTTTGTTAGCT	0.517													3	96					0	0	1	0	0	C	11370890	T	C	11370890	5	2	98	1	0	0	0	0	0	0	1	0	3216	1739	60	3	1559	3	CELF2	10	11370890	Splice_Site	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08		11370890	124163857	7	1694											
CYP2C9	1559	broad.mit.edu	37	chr10	96701709	96701709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgaaggaagccctgaTtgatcttggagaggagtttt	14	5	1	4	rs139656048		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr10:96701709T>C	uc001kka.4	+	1	288	c.263T>C	c.(262-264)aTt>aCt	p.I88T	CYP2C9_uc009xut.3_Missense_Mutation_p.I88T|CYP2C9_uc001kjz.3_Missense_Mutation_p.I88T	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	88					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAAGCCCTGATTGATCTTGGA	0.478													13	158					0	0	1	0	0	C	96701709	T	C	96701709	3	2	98	1	0	0	0	0	1	0	0	0	4168	1493	52	3	269	3	CYP2C9	10	96701709	Missense_Mutation	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08	85330819	96701709	38833038	8	1695											
CYB5R2	51700	broad.mit.edu	37	chr11	7690411	7690411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcctcccagctgggaGcccaagtattaacccctcca	6	16	1	0			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:7690411G>A	uc009yfl.1	-	3	479	c.413C>T	c.(412-414)gCt>gTt	p.A138V	CYB5R2_uc001mfm.3_Intron|CYB5R2_uc001mfn.3_Intron|CYB5R2_uc009yfk.3_Intron			Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	0					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAGCTGGGAGCCCAAGTATT	0.483													17	48					0	0	1	0	0	A	7690411	G	A	7690411	3	1	98	1	0	0	0	0	1	0	0	0	4127	986	34	2		2	CYB5R2	11	7690411	Missense_Mutation	SNP	G	TCGA-DJ-A2Q6-01A-11D-A18F-08		7690411	127316105	9	1696											
AHNAK	79026	broad.mit.edu	37	chr11	62294421	62294421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatcaactttggggccccTgatgttcatatctggtactt	8	10	3	1			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:62294421T>C	uc001ntl.3	-	4	7768	c.7468A>G	c.(7468-7470)Agg>Ggg	p.R2490G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2490					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGGCCCCTGATGTTCATA	0.478													4	209					0	0	1	0	0	C	62294421	T	C	62294421	3	2	98	1	0	0	0	0	1	0	0	0	414	1579	55	3	10324	3	AHNAK	11	62294421	Missense_Mutation	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08	54604010	62294421	72712095	10	1697											
OR4D5	219875	broad.mit.edu	37	chr11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaaaaaggaccctattGgtcccctggagcacagaccc	12	12	0	1	rs143337717		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:123811251G>T	uc001pzk.1	+	0	928	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACCCTATTGGTCCCCTGGA	0.502													24	43					0	0	1	0	0	T	123811251	G	T	123811251	3	4	98	1	0	0	0	0	1	0	0	0	11057	1348	47	4	930	4	OR4D5	11	123811251	Missense_Mutation	SNP	G	TCGA-DJ-A2Q6-01A-11D-A18F-08	61516830	123811251	11195265	11	1698											
CACNB3	784	broad.mit.edu	37	chr12	49218501	49218501	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acattggcaaccgacgctccCctccgccatctctaggtagc	8	17	1	0			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr12:49218501C>G	uc001rsl.2	+	4	916	c.457C>G	c.(457-459)Cct>Gct	p.P153A	CACNB3_uc010slx.2_Missense_Mutation_p.P140A|CACNB3_uc010sly.2_Missense_Mutation_p.P140A|CACNB3_uc010slz.2_Missense_Mutation_p.P152A|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.P112A	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	153					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CCGACGCTCCCCTCCGCCATC	0.547													3	68					0	0	1	0	0	G	49218501	C	G	49218501	3	3	98	1	0	0	0	0	1	0	0	0	2554	623	22	4	475	4	CACNB3	12	49218501	Missense_Mutation	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		49218501	84633394	12	1699											
GPR179	440435	broad.mit.edu	37	chr17	36484931	36484931	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcttccttttctggaggcTttttccttttcttgaagaga	8	8	2	2			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr17:36484931T>C	uc002hpz.3	-	10	4542	c.4521A>G	c.(4519-4521)aaA>aaG	p.K1507K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1507						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCTGGAGGCTTTTTCCTTTT	0.483													3	218					0	0	1	0	0	C	36484931	T	C	36484931	2	2	98	1	0	0	0	0	0	0	0	1	6674	1606	56	3		3	GPR179	17	36484931	Silent	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08		36484931	44710279	13	1700											
MEOX1	4222	broad.mit.edu	37	chr17	41738500	41738500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgctcccaagcacccCgtagtcatcgcctgggcctc	11	17	1	0			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr17:41738500C>A	uc002idz.3	-	0	432	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W	MEOX1_uc002iea.3_Missense_Mutation_p.G135W|MEOX1_uc002ieb.3_Missense_Mutation_p.G20W	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	135						nucleus	sequence-specific DNA binding	p.G135W(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCAAGCACCCCGTAGTCATCG	0.607													4	178					0	0	1	0	0	A	41738500	C	A	41738500	3	1	98	1	0	0	0	0	1	0	0	0	9473	652	23	4	373	4	MEOX1	17	41738500	Missense_Mutation	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08	5253569	41738500	39456710	14	1701											
SULF2	55959	broad.mit.edu	37	chr20	46313295	46313295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatgatccagtgtttgtcCgggttgggcgcgtagttgta	15	8	0	1			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr20:46313295C>T	uc002xto.3	-	5	1098	c.768G>A	c.(766-768)ccG>ccA	p.P256P	SULF2_uc002xtr.3_Silent_p.P256P|SULF2_uc002xtq.3_Silent_p.P256P	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	256					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.P256L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGTGTTTGTCCGGGTTGGGCG	0.617													3	34					0	0	1	0	0	T	46313295	C	T	46313295	2	4	98	1	0	0	0	0	0	0	0	1	15370	639	23	1		1	SULF2	20	46313295	Silent	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		46313295	16712225	15	1702											
KIAA1522	57648	broad.mit.edu	37	chr1	33236588	33236588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggcctggcaggtccccctgCttccccaggcaaggcccagc	13	18	0	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:33236588C>G	uc001bvu.1	+	5	1852	c.1808C>G	c.(1807-1809)gCt>gGt	p.A603G	KIAA1522_uc010ohm.1_Missense_Mutation_p.A555G|KIAA1522_uc001bvv.2_Missense_Mutation_p.A544G|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	544	Pro-rich.							p.P602S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGTCCCCCTGCTTCCCCAGGC	0.642													6	66					0	0	1	0	0	G	33236588	C	G	33236588	3	3	99	1	0	0	0	0	1	0	0	0	8238	797	28	4	1830	4	KIAA1522	1	33236588	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		33236588	216014033	1	1703											
WDR47	22911	broad.mit.edu	37	chr1	109544904	109544904	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaccatcctcctgattcaCgcctccttcaagcaacatct	5	16	3	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:109544904C>G	uc001dwl.3	-	6	1775	c.1399G>C	c.(1399-1401)Gtg>Ctg	p.V467L	WDR47_uc001dwi.3_Missense_Mutation_p.V460L|WDR47_uc001dwj.3_Missense_Mutation_p.V459L|WDR47_uc001dwk.2_Missense_Mutation_p.V431L|WDR47_uc010ovf.2_Missense_Mutation_p.V386L	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	459	Gln-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCCTGATTCACGCCTCCTTCA	0.383													10	128					0	0	1	0	0	G	109544904	C	G	109544904	3	3	99	1	0	0	0	0	1	0	0	0	17297	536	19	4	1420	4	WDR47	1	109544904	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	76308316	109544904	139705717	2	1704											
FCGR2B	2213	broad.mit.edu	37	chr1	161641233	161641233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccagtggatcaacgtgcTccaggaggactctgtgactc	12	13	2	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:161641233T>C	uc001gaz.2	+	2	312	c.185T>C	c.(184-186)cTc>cCc	p.L62P	FCGR2B_uc009wum.2_Missense_Mutation_p.L62P|FCGR2B_uc001gay.2_Missense_Mutation_p.L61P|FCGR2B_uc001gba.2_Missense_Mutation_p.L61P|FCGR2B_uc009wun.2_Missense_Mutation_p.L55P|FCGR2B_uc001gbb.2_Missense_Mutation_p.L62P	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	62	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAACGTGCTCCAGGAGGAC	0.587			T	?	ALL								21	29					0	0	1	0	0	C	161641233	T	C	161641233	3	2	99	1	0	0	0	0	1	0	0	0	5782	1551	54	3	195	3	FCGR2B	1	161641233	Missense_Mutation	SNP	T	TCGA-DJ-A2Q7-01A-11D-A18F-08	52096329	161641233	87609388	3	1705											
POU2F1	5451	broad.mit.edu	37	chr1	167367336	167367336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcaccagcatagagaccaAcatccgtgtggccttagaga	10	12	0	2			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:167367336A>G	uc001gee.3	+	10	1304	c.1235A>G	c.(1234-1236)aAc>aGc	p.N412S	POU2F1_uc001gec.3_Missense_Mutation_p.N389S|POU2F1_uc010plh.2_Missense_Mutation_p.N349S|POU2F1_uc001ged.3_Missense_Mutation_p.N387S|POU2F1_uc001gef.3_Missense_Mutation_p.N401S|POU2F1_uc001geg.3_Missense_Mutation_p.N287S|POU2F1_uc009wvg.1_5'Flank	NM_002697	NP_002688	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 1, mRNA.	389					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ATAGAGACCAACATCCGTGTG	0.468													3	69					0	0	1	0	0	G	167367336	A	G	167367336	3	3	99	1	0	0	0	0	1	0	0	0	12271	43	2	3	1204	3	POU2F1	1	167367336	Missense_Mutation	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08	5726103	167367336	81883285	4	1706											
RYK	6259	broad.mit.edu	37	chr3	133928660	133928661	+	Frame_Shift_Del	DEL	CT	CT	-													actttgccagtacaggaaagCtctacccgaaacactgttta							TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr3:133928660_133928661delCT	uc003eqc.1	-	4	553_554	c.455_456delAG	c.(454-456)gagfs	p.E152fs	RYK_uc003eqd.1_Frame_Shift_Del_p.E152fs	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	153	WIF.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TACAGGAAAGCTCTACCCGAAA	0.272													2	4	---	---	---	---						-	133928661	CT	-	133928660	7	5	99	1	0	1	0	1	0	0	0	0	13767	796	28	0	1412	0	RYK	3	133928660	Frame_Shift_Del	DEL	CT	TCGA-DJ-A2Q7-01A-11D-A18F-08		133928660	64093770	5	1707											
MAP1B	4131	broad.mit.edu	37	chr5	71495163	71495163	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcaatggctatgatgactCtgaggatggtggccacacac	12	10	1	3			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr5:71495163C>T	uc003kbw.4	+	4	6222	c.5981C>T	c.(5980-5982)tCt>tTt	p.S1994F	MAP1B_uc010iyw.1_Missense_Mutation_p.S2011F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1868F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1868F	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1994						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATGATGACTCTGAGGATGGT	0.483													8	228					0	0	1	0	0	T	71495163	C	T	71495163	3	4	99	1	0	0	0	0	1	0	0	0	9228	913	32	2	5999	2	MAP1B	5	71495163	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		71495163	109420097	6	1708											
MEF2C	4208	broad.mit.edu	37	chr5	88047813	88047813	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacaccaaactgttgtggctGgacactgggatggagactgg	14	8	0	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr5:88047813G>C	uc003kjl.3	-	6	933	c.504C>G	c.(502-504)tcC>tcG	p.S168S	MEF2C_uc021ybg.1_Silent_p.S102S|MEF2C_uc021ybh.1_Silent_p.S102S|MEF2C_uc003kji.2_Silent_p.S150S|MEF2C_uc003kjj.3_Silent_p.S150S|MEF2C_uc003kjk.3_Silent_p.S150S|MEF2C_uc003kjm.3_Silent_p.S148S	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	150	Ser-rich.				B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGTTGTGGCTGGACACTGGGA	0.478										HNSCC(66;0.2)			32	70					0	0	1	0	0	C	88047813	G	C	88047813	2	2	99	1	0	0	0	0	0	0	0	1	9457	1335	47	4		4	MEF2C	5	88047813	Silent	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08	16552650	88047813	92867447	7	1709											
TNXB	7148	broad.mit.edu	37	chr6	32015637	32015637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctggttggctgccaccgGcaccacctggagccgaccat	12	17	0	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr6:32015637G>A	uc003nzl.2	-	29	10394	c.10192C>T	c.(10192-10194)Ccg>Tcg	p.P3398S	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3445					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.P3465S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCACCGGCACCACCTGG	0.617													3	32					0	0	1	0	0	A	32015637	G	A	32015637	3	1	99	1	0	0	0	0	1	0	0	0	16343	1203	42	2	4581	2	TNXB	6	32015637	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		32015637	139099430	8	1710											
FUT9	10690	broad.mit.edu	37	chr6	96651640	96651640	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaccctgagcatgccagagtCaagtattacaatgagctaag	9	9	1	3			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr6:96651640C>G	uc003pop.4	+	2	950	c.609C>G	c.(607-609)gtC>gtG	p.V203V	FUT9_uc021zcw.1_Silent_p.V203V	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	203					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATGCCAGAGTCAAGTATTACA	0.408													15	30					0	0	1	0	0	G	96651640	C	G	96651640	2	3	99	1	0	0	0	0	0	0	0	1	6111	813	29	4		4	FUT9	6	96651640	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	64636003	96651640	74463427	9	1711											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	49					0	0	1	0	0	T	140453136	A	T	140453136	3	4	99	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		140453136	18685527	10	1712											
ST18	9705	broad.mit.edu	37	chr8	53092728	53092728	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggggccatcgtcctctgtCctgtcactgcggtcttcttg	11	13	4	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr8:53092728C>T	uc003xqz.2	-	3	387	c.231G>A	c.(229-231)agG>agA	p.R77R	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.R42R|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.R77R|ST18_uc003xrb.2_Silent_p.R77R|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	77						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGTCCTCTGTCCTGTCACTGC	0.542													36	175					0	0	1	0	0	T	53092728	C	T	53092728	2	4	99	1	0	0	0	0	0	0	0	1	15211	854	30	2		2	ST18	8	53092728	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		53092728	93271294	11	1713											
ZBTB26	57684	broad.mit.edu	37	chr9	125681791	125681791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactggggagaagcactctgTggttcacatccctctttact	10	11	3	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr9:125681791T>C	uc004bnj.3	-	1	635	c.423A>G	c.(421-423)ccA>ccG	p.P141P	ZBTB26_uc004bnk.3_Silent_p.P141P|ZBTB26_uc022bnc.1_Silent_p.P141P	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AAGCACTCTGTGGTTCACATC	0.468													16	83					0	0	1	0	0	C	125681791	T	C	125681791	2	2	99	1	0	0	0	0	0	0	0	1	17530	1683	59	3		3	ZBTB26	9	125681791	Silent	SNP	T	TCGA-DJ-A2Q7-01A-11D-A18F-08		125681791	15531640	12	1714											
OR8K5	219453	broad.mit.edu	37	chr11	55927551	55927551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaacaaaatttgccagCaccttgggacaaatgacagt	7	11	0	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr11:55927551C>T	uc010rja.2	-	0	243	c.243G>A	c.(241-243)gtG>gtA	p.V81V		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATTTGCCAGCACCTTGGGAC	0.383													5	70					0	0	1	0	0	T	55927551	C	T	55927551	2	4	99	1	0	0	0	0	0	0	0	1	11245	697	25	2		2	OR8K5	11	55927551	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		55927551	79078965	13	1715											
OR4N5	390437	broad.mit.edu	37	chr14	20612492	20612492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtggagcttctgatgGtctccaacagtggcctgctc	13	10	2	1	rs147549956		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr14:20612492G>T	uc010tla.2	+	0	598	c.598G>T	c.(598-600)Gtc>Ttc	p.V200F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTCTGATGGTCTCCAACAG	0.537													7	96					0	0	1	0	0	T	20612492	G	T	20612492	3	4	99	1	0	0	0	0	1	0	0	0	11079	1261	44	4	600	4	OR4N5	14	20612492	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		20612492	86737048	14	1716											
ZFHX3	463	broad.mit.edu	37	chr16	72984519	72984519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccactcgttggccttgCcgccctccttgatgtgggcc	11	17	0	1			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr16:72984519C>T	uc002fck.3	-	2	3738	c.3065G>A	c.(3064-3066)gGc>gAc	p.G1022D	ZFHX3_uc002fcl.3_Missense_Mutation_p.G108D	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1022					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTTGGCCTTGCCGCCCTCCTT	0.592													3	47					0	0	1	0	0	T	72984519	C	T	72984519	3	4	99	1	0	0	0	0	1	0	0	0	17631	739	26	2	8078	2	ZFHX3	16	72984519	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		72984519	17370234	15	1717											
MYH8	4626	broad.mit.edu	37	chr17	10295952	10295952	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcattttcaacctctccttcAagctcacgtacctgcagcca	4	16	5	0			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr17:10295952A>T	uc002gmm.2	-	37	5570	c.5475T>A	c.(5473-5475)ctT>ctA	p.L1825L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1825					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCTCCTTCAAGCTCACGTA	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	159					0	0	1	0	0	T	10295952	A	T	10295952	2	4	99	1	0	0	0	0	0	0	0	1	10041	117	5	5		5	MYH8	17	10295952	Silent	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		10295952	70899258	16	1718											
MLLT1	4298	broad.mit.edu	37	chr19	6213134	6213134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtcgaagtcgaaggtGgtgttggtgacattgaagtg	17	3	0	3			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr19:6213134G>A	uc002mek.3	-	11	1763	c.1599C>T	c.(1597-1599)acC>acT	p.T533T		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	533					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGTCGAAGGTGGTGTTGGTGA	0.627			T	MLL	AL								40	89					0	0	1	0	0	A	6213134	G	A	6213134	2	1	99	1	0	0	0	0	0	0	0	1	9625	1335	47	2		2	MLLT1	19	6213134	Silent	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		6213134	52915849	17	1719											
SPTA1	6708	broad.mit.edu	37	chr1	158623172	158623172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctgacatagacagctGggacaatgccctgatgatca	10	10	3	4			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr1:158623172G>A	uc001fst.1	-	21	3279	c.3080C>T	c.(3079-3081)cCa>cTa	p.P1027L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1027	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATAGACAGCTGGGACAATGCC	0.552													6	76					0	0	1	0	0	A	158623172	G	A	158623172	3	1	100	1	0	0	0	0	1	0	0	0	15115	1348	47	2	4303	2	SPTA1	1	158623172	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		158623172	90627449	1	1720											
PIGZ	80235	broad.mit.edu	37	chr3	196675177	196675177	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcgtgtagggccccaCgttacatgggaggataccag	13	11	0	0			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr3:196675177C>G	uc003fxh.3	-	2	738	c.591G>C	c.(589-591)acG>acC	p.T197T		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	197					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TAGGGCCCCACGTTACATGGG	0.607													3	63					0	0	1	0	0	G	196675177	C	G	196675177	2	3	100	1	0	0	0	0	0	0	0	1	11905	523	19	4		4	PIGZ	3	196675177	Silent	SNP	C	TCGA-DJ-A2Q8-01A-11D-A18F-08		196675177	1347253	2	1721											
NDST4	64579	broad.mit.edu	37	chr4	115898369	115898369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaaaacttccctgaaaatCcaaggttgaaggtaaaattt	8	6	0	2			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr4:115898369C>T	uc003ibu.3	-	2	1719	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	347	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCCTGAAAATCCAAGGTTGAA	0.323													4	100					0	0	1	0	0	T	115898369	C	T	115898369	3	4	100	1	0	0	0	0	1	0	0	0	10258	855	30	2	1626	2	NDST4	4	115898369	Missense_Mutation	SNP	C	TCGA-DJ-A2Q8-01A-11D-A18F-08		115898369	75255907	3	1722											
ACOT12	134526	broad.mit.edu	37	chr5	80626733	80626733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaccgatggcaaaatgaccGacttcactgccactgtgtaa	10	11	1	1	rs80124231	by1000genomes	TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr5:80626733G>A	uc003khl.4	-	13	1473	c.1418C>T	c.(1417-1419)tCg>tTg	p.S473L	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	473	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAAAATGACCGACTTCACTGC	0.398													15	17					0	0	1	0	0	A	80626733	G	A	80626733	3	1	100	1	0	0	0	0	1	0	0	0	150	1059	37	1	257	1	ACOT12	5	80626733	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		80626733	100288527	4	1723											
ZNF608	57507	broad.mit.edu	37	chr5	124079864	124079864	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagagtttcccatgagcccTgaatccggggcacttttgct	10	11	0	3			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr5:124079864T>C	uc003ktq.1	-	0	1002	c.819A>G	c.(817-819)tcA>tcG	p.S273S	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Silent_p.S273S|ZNF608_uc003ktt.1_Silent_p.S273S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	273						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCATGAGCCCTGAATCCGGGG	0.562													4	212					0	0	1	0	0	C	124079864	T	C	124079864	2	2	100	1	0	0	0	0	0	0	0	1	18031	1567	55	3		3	ZNF608	5	124079864	Silent	SNP	T	TCGA-DJ-A2Q8-01A-11D-A18F-08	43453131	124079864	56835396	5	1724											
GRM1	2911	broad.mit.edu	37	chr6	146480652	146480652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctagagtggtggtctgctTctgtgaaggcatgacagtgc	16	7	2	3			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr6:146480652T>G	uc010khw.1	+	2	1339	c.869T>G	c.(868-870)tTc>tGc	p.F290C	GRM1_uc010khu.1_Missense_Mutation_p.F290C|GRM1_uc010khv.1_Missense_Mutation_p.F290C|GRM1_uc003qll.2_Missense_Mutation_p.F290C|GRM1_uc011edz.1_Missense_Mutation_p.F290C|GRM1_uc011eea.1_Missense_Mutation_p.F290C	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	290					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTGGTCTGCTTCTGTGAAGGC	0.552													3	86					0	0	1	0	0	G	146480652	T	G	146480652	3	3	100	1	0	0	0	0	1	0	0	0	6796	1783	62	5	875	5	GRM1	6	146480652	Missense_Mutation	SNP	T	TCGA-DJ-A2Q8-01A-11D-A18F-08		146480652	24634415	6	1725											
VCP	7415	broad.mit.edu	37	chr9	35065309	35065309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcaacaatgcaataaGggctaggatctgtttccacc	10	10	1	0			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr9:35065309G>A	uc003zvy.2	-	4	904	c.515C>T	c.(514-516)cCt>cTt	p.P172L	VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.P127L	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	172					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AATGCAATAAGGGCTAGGATC	0.478													18	40					0	0	1	0	0	A	35065309	G	A	35065309	3	1	100	1	0	0	0	0	1	0	0	0	17137	1000	35	2	1957	2	VCP	9	35065309	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		35065309	106148122	7	1726											
SETX	23064	broad.mit.edu	37	chr9	135140069	135140069	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgaagttggtcatgaacagGaggtctttcagggtcctttg	13	7	3	2			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr9:135140069G>C	uc004cbk.3	-	25	7774	c.7591C>G	c.(7591-7593)Cct>Gct	p.P2531A	SETX_uc004cbj.3_Missense_Mutation_p.P2179A|SETX_uc010mzt.3_Missense_Mutation_p.P2117A	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2531					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCATGAACAGGAGGTCTTTCA	0.488													3	109					0	0	1	0	0	C	135140069	G	C	135140069	3	2	100	1	0	0	0	0	1	0	0	0	14141	1174	41	4	446	4	SETX	9	135140069	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08	100074760	135140069	6073362	8	1727											
MYBPC3	4607	broad.mit.edu	37	chr11	47369997	47369997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagtgagattgaagttGgagcagtcaaatttgtcctt	12	5	1	2			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr11:47369997G>A	uc021qis.1	-	5	805	c.750C>T	c.(748-750)tcC>tcT	p.S250S	MYBPC3_uc021qir.1_5'UTR	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	250	Ig-like C2-type 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GATTGAAGTTGGAGCAGTCAA	0.577													7	18					0	0	1	0	0	A	47369997	G	A	47369997	2	1	100	1	0	0	0	0	0	0	0	1	10013	1335	47	2		2	MYBPC3	11	47369997	Silent	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		47369997	87636519	9	1728											
CREBBP	1387	broad.mit.edu	37	chr16	3828107	3828107	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatgccttgtttatgtAaacgcgacctccgtttttct	7	11	1	1			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr16:3828107A>T	uc002cvv.3	-	9	2222	c.2018T>A	c.(2017-2019)tTa>tAa	p.L673*	CREBBP_uc002cvw.3_Nonsense_Mutation_p.L635*	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	673					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R672C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGTTTATGTAAACGCGACCT	0.433			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						7	152					0	0	1	0	0	T	3828107	A	T	3828107	4	4	100	1	0	0	0	0	0	1	0	0	3861	372	13	5	5398	5	CREBBP	16	3828107	Nonsense_Mutation	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08		3828107	86526646	10	1729											
ATP2C2	9914	broad.mit.edu	37	chr16	84495624	84495624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttgagatcggctttctcAggaaccacatgttcctctac	7	11	2	1			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr16:84495624A>G	uc010chj.3	+	26	2787	c.2698A>G	c.(2698-2700)Agg>Ggg	p.R900G	ATP2C2_uc002fhx.3_Missense_Mutation_p.R871G|ATP2C2_uc002fhy.3_Missense_Mutation_p.R888G|ATP2C2_uc002fhz.3_Missense_Mutation_p.R720G|ATP2C2_uc002fia.3_Missense_Mutation_p.R182G	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	871					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CGGCTTTCTCAGGAACCACAT	0.587													3	132					0	0	1	0	0	G	84495624	A	G	84495624	3	3	100	1	0	0	0	0	1	0	0	0	1144	179	7	3	2713	3	ATP2C2	16	84495624	Missense_Mutation	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08	80667517	84495624	5859129	11	1730											
PRR22	163154	broad.mit.edu	37	chr19	5783841	5783841	+	Frame_Shift_Del	DEL	C	C	-													tagggcaagagaaactggggCcccccgggtgcctgctggta							TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr19:5783841delC	uc010xiv.1	-	2	522	c.417delG	c.(415-417)gggfs	p.G139fs	PRR22_uc002mdb.1_Frame_Shift_Del_p.G137fs	NM_001134316	NP_001127788	Q8IZ63	PRR22_HUMAN	Homo sapiens proline rich 22 (PRR22), mRNA.	137	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GAAACTGGGGCCCCCCGGGTG	0.721													2	4	---	---	---	---						-	5783841	C	-	5783841	7	5	100	1	0	1	0	1	0	0	0	0	12593	726	26	0	855	0	PRR22	19	5783841	Frame_Shift_Del	DEL	C	TCGA-DJ-A2Q8-01A-11D-A18F-08		5783841	53345142	12	1731											
ADAM33	80332	broad.mit.edu	37	chr20	3652627	3652627	+	Frame_Shift_Del	DEL	G	G	-													acaggcctcgggagctgggtGggagcctgaggaagcatggg							TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr20:3652627delG	uc002wit.3	-	14	1690	c.1603delC	c.(1603-1605)cacfs	p.H535fs	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Frame_Shift_Del_p.H535fs|ADAM33_uc002wis.3_Frame_Shift_Del_p.H57fs|ADAM33_uc002wiu.3_Frame_Shift_Del_p.H535fs|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	535	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGAGCTGGGTGGGAGCCTGAG	0.652													2	4	---	---	---	---						-	3652627	G	-	3652627	7	5	100	1	0	1	0	1	0	0	0	0	250	1348	47	0	870	0	ADAM33	20	3652627	Frame_Shift_Del	DEL	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		3652627	59372893	13	1732											
PCDH11X	27328	broad.mit.edu	37	chrX	91873707	91873707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgccctccatcgtagtcAggcccaatcatcagtcagtt	7	13	4	0			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chrX:91873707A>G	uc004efk.2	+	6	4657	c.3812A>G	c.(3811-3813)cAg>cGg	p.Q1271R	PCDH11X_uc004efl.2_Missense_Mutation_p.Q1261R|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.Q1263R|PCDH11X_uc004efn.2_Missense_Mutation_p.Q1253R|PCDH11X_uc004efo.2_Missense_Mutation_p.Q1234R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1271					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATCGTAGTCAGGCCCAATCA	0.547													4	258					0	0	1	0	0	G	91873707	A	G	91873707	3	3	100	1	0	0	0	0	1	0	0	0	11508	188	7	3	3960	3	PCDH11X	23	91873707	Missense_Mutation	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08		91873707	63396853	14	1733											
OR2G6	391211	broad.mit.edu	37	chr1	248685767	248685767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaccagggaaagtttGtttctcttttctataccata	5	9	2	0			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr1:248685767G>T	uc001ien.1	+	0	820	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAAAGTTTGTTTCTCTTTT	0.438													9	73					0	0	1	0	0	T	248685767	G	T	248685767	3	4	101	1	0	0	0	0	1	0	0	0	11000	1377	48	4	822	4	OR2G6	1	248685767	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		248685767	564854	1	1734											
RTKN	6242	broad.mit.edu	37	chr2	74656958	74656958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcaaggccttacccaAcaactggggtggggagcaag	16	9	0	0			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:74656958A>G	uc002sle.3	-	5	869	c.752T>C	c.(751-753)gTt>gCt	p.V251A	RTKN_uc002slc.3_Missense_Mutation_p.V238A|RTKN_uc002sld.3_Missense_Mutation_p.V201A	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	251					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCCTTACCCAACAACTGGGGT	0.602													4	43					0	0	1	0	0	G	74656958	A	G	74656958	3	3	101	1	0	0	0	0	1	0	0	0	13722	43	2	3	967	3	RTKN	2	74656958	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08		74656958	168542415	2	1735											
LONRF2	164832	broad.mit.edu	37	chr2	100903492	100903492	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgatgcacagaatcgtggaGagcggcaagttcttcatact	11	8	2	3			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:100903492G>C	uc002tal.4	-	10	2594	c.1954C>G	c.(1954-1956)Ctc>Gtc	p.L652V	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	652	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GAATCGTGGAGAGCGGCAAGT	0.488													3	35					0	0	1	0	0	C	100903492	G	C	100903492	3	2	101	1	0	0	0	0	1	0	0	0	8895	942	33	4	318	4	LONRF2	2	100903492	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08	26246534	100903492	142295881	3	1736											
PTPRN	5798	broad.mit.edu	37	chr2	220162111	220162111	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctccggtggaccctctgcCcggttgaacaaggacttcgt	13	13	1	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:220162111C>G	uc002vkz.3	-	13	2173	c.1932G>C	c.(1930-1932)cgG>cgC	p.R644R	PTPRN_uc010zlc.2_Silent_p.R554R|PTPRN_uc002vla.3_Silent_p.R615R	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	644					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACCCTCTGCCCGGTTGAACA	0.627													6	56					0	0	1	0	0	G	220162111	C	G	220162111	2	3	101	1	0	0	0	0	0	0	0	1	12807	610	22	4		4	PTPRN	2	220162111	Silent	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08	119258619	220162111	23037262	4	1737											
DOCK10	55619	broad.mit.edu	37	chr2	225739448	225739448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcgtgcattcacaagTtacagaattatccagcgaat	8	10	2	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:225739448T>C	uc010fwz.1	-	8	1191	c.952A>G	c.(952-954)Act>Gct	p.T318A	DOCK10_uc002vob.2_Missense_Mutation_p.T312A|DOCK10_uc002vod.1_Missense_Mutation_p.T318A	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	318							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATTCACAAGTTACAGAATTA	0.373													11	114					0	0	1	0	0	C	225739448	T	C	225739448	3	2	101	1	0	0	0	0	1	0	0	0	4685	1725	60	3	5800	3	DOCK10	2	225739448	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08	5577337	225739448	17459925	5	1738											
PIK3CB	5291	broad.mit.edu	37	chr3	138374244	138374244	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgttaagatctgtagTctttccgaactgtgtgggcc	11	9	2	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr3:138374244T>A	uc011bmq.2	-	21	3200	c.3200A>T	c.(3199-3201)gAc>gTc	p.D1067V	PIK3CB_uc011bmn.2_Missense_Mutation_p.D579V|PIK3CB_uc011bmo.2_Missense_Mutation_p.D518V|PIK3CB_uc011bmp.2_Missense_Mutation_p.D654V|PIK3CB_uc003est.1_Non-coding_Transcript	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	1067	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D1067V(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGATCTGTAGTCTTTCCGAAC	0.408													5	65					0	0	1	0	0	A	138374244	T	A	138374244	3	1	101	1	0	0	0	0	1	0	0	0	11914	1667	58	5	14	5	PIK3CB	3	138374244	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		138374244	59648186	6	1739											
WDR49	151790	broad.mit.edu	37	chr3	167245799	167245799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttactggagttaagacAgtactcctgaatgaaaagaa	9	6	1	4			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr3:167245799A>G	uc003fev.1	-	10	1661	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	WDR49_uc003feu.1_Missense_Mutation_p.C278R|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	453										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAGTTAAGACAGTACTCCTGA	0.353													7	37					0	0	1	0	0	G	167245799	A	G	167245799	3	3	101	1	0	0	0	0	1	0	0	0	17299	188	7	3	756	3	WDR49	3	167245799	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08	28871555	167245799	30776631	7	1740											
USP46	64854	broad.mit.edu	37	chr4	53492228	53492228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcattggtaagcgttcccTgaaaaatctcatggacccag	8	10	2	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr4:53492228T>C	uc003gzn.3	-	3	703	c.518A>G	c.(517-519)cAg>cGg	p.Q173R	USP46_uc003gzm.4_Missense_Mutation_p.Q166R|USP46_uc011bzr.2_Missense_Mutation_p.Q150R|USP46_uc011bzs.2_Missense_Mutation_p.Q57R	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	173					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AAGCGTTCCCTGAAAAATCTC	0.383													3	56					0	0	1	0	0	C	53492228	T	C	53492228	3	2	101	1	0	0	0	0	1	0	0	0	17074	1580	55	3	606	3	USP46	4	53492228	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		53492228	137662048	8	1741											
SHROOM3	57619	broad.mit.edu	37	chr4	77700311	77700311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagtggtattttcccaaCattaacctctccactttaac	3	12	2	0			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr4:77700311C>T	uc011cbx.2	+	10	6925	c.5972C>T	c.(5971-5973)aCa>aTa	p.T1991I	SHROOM3_uc003hkg.3_Missense_Mutation_p.T1769I	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1991					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATTTTCCCAACATTAACCTCT	0.448													4	51					0	0	1	0	0	T	77700311	C	T	77700311	3	4	101	1	0	0	0	0	1	0	0	0	14295	478	17	2	6014	2	SHROOM3	4	77700311	Missense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08	24208083	77700311	113453965	9	1742											
EGFLAM	133584	broad.mit.edu	37	chr5	38451448	38451448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagatcaaatgtgttcatgAggtttaaaacaactgccaag	8	7	2	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:38451448A>G	uc003jlc.2	+	19	2945	c.2599A>G	c.(2599-2601)Agg>Ggg	p.R867G	EGFLAM_uc003jlb.2_Missense_Mutation_p.R859G|EGFLAM_uc003jle.2_Missense_Mutation_p.R625G|EGFLAM_uc003jlf.2_Missense_Mutation_p.R225G|EGFLAM_uc003jlg.2_Missense_Mutation_p.R2G	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	867	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.G867D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGTTCATGAGGTTTAAAAC	0.473													3	100					0	0	1	0	0	G	38451448	A	G	38451448	3	3	101	1	0	0	0	0	1	0	0	0	4966	295	11	3	2663	3	EGFLAM	5	38451448	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08		38451448	142463812	10	1743											
AP3B1	8546	broad.mit.edu	37	chr5	77452176	77452177	+	Missense_Mutation	DNP	TC	TC	AT													tctttataacaaccacacttTcagcaacaactatttctgaa							TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:77452176_77452177TC>AT	uc003kfj.3	-	13	1503_1504	c.1378_1379GA>AT	c.(1378-1380)gaa>ATa	p.E460I		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	460					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AACCACACTTTCAGCAACAACT	0.297									Hermansky-Pudlak syndrome				7	76					0	0	1	0	0	AT	77452177	TC	AT	77452176	3	1	101	1	0	0	0	0	1	0	0	0	744	1783	62	5	1961	5	AP3B1	5	77452176	Missense_Mutation	DNP	TC	TCGA-DJ-A2Q9-01A-21D-A18F-08	39000728	77452176	103463084	11	1744											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				3	55					0	0	1	0	0	T	140453136	A	T	140453136	3	4	101	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08		140453136	18685527	12	1745											
EPPK1	83481	broad.mit.edu	37	chr8	144940615	144940615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggtcgatgacgaagccGgtggccgcctgcgcctccag	16	14	0	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr8:144940615G>A	uc003zaa.1	-	0	6820	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2269						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716													7	55					0	0	1	0	0	A	144940615	G	A	144940615	2	1	101	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144940615	Silent	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		144940615	1423407	13	1746											
LPPR1	54886	broad.mit.edu	37	chr9	104071536	104071536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactgacatttttgtaaaCgccggacaagtggtcactgg	11	9	1	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr9:104071536C>T	uc004bbb.3	+	4	828	c.429C>T	c.(427-429)aaC>aaT	p.N143N	LPPR1_uc011lvi.2_Silent_p.N119N|LPPR1_uc004bbc.3_Silent_p.N143N|LPPR1_uc010mtc.3_Silent_p.N127N	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	143						integral to membrane	catalytic activity										TTTTTGTAAACGCCGGACAAG	0.418													9	71					0	0	1	0	0	T	104071536	C	T	104071536	2	4	101	1	0	0	0	0	0	0	0	1	8924	535	19	1		1	LPPR1	9	104071536	Silent	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08		104071536	37141895	14	1747											
FZD8	8325	broad.mit.edu	37	chr10	35930194	35930194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtcgtggttgaactgaTtgggcatgtaggtgtagttg	17	4	0	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:35930194T>C	uc001iyz.1	-	0	169	c.164A>G	c.(163-165)aAt>aGt	p.N55S		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	55	FZ.				T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GTTGAACTGATTGGGCATGTA	0.617													3	33					0	0	1	0	0	C	35930194	T	C	35930194	3	2	101	1	0	0	0	0	1	0	0	0	6136	1493	52	3	1924	3	FZD8	10	35930194	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		35930194	99604553	15	1748											
DUSP13	51207	broad.mit.edu	37	chr10	76868831	76868831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaagacttccctgcccGcaggagctcctccagctcca	9	17	0	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:76868831G>A	uc001jww.3	-	0	140	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Missense_Mutation_p.R29W|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR	NM_001007272	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA.	29						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCCCTGCCCGCAGGAGCTCC	0.642													3	39					0	0	1	0	0	A	76868831	G	A	76868831	3	1	101	1	0	0	0	0	1	0	0	0	4813	1086	38	1	1389	1	DUSP13	10	76868831	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08	40938637	76868831	58665916	16	1749											
MKI67	4288	broad.mit.edu	37	chr10	129905423	129905423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgtcaggtccagttTctgcactggagttcccataa	9	11	3	0			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:129905423T>C	uc001lke.3	-	12	4876	c.4681A>G	c.(4681-4683)Aaa>Gaa	p.K1561E	MKI67_uc001lkf.3_Missense_Mutation_p.K1201E|MKI67_uc009yav.1_Missense_Mutation_p.K1136E|MKI67_uc009yaw.1_Missense_Mutation_p.K711E	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1561	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTCCAGTTTCTGCACTGGA	0.493													17	192					0	0	1	0	0	C	129905423	T	C	129905423	3	2	101	1	0	0	0	0	1	0	0	0	9598	1792	62	3	5101	3	MKI67	10	129905423	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08	53036592	129905423	5629324	17	1750											
LRP5	4041	broad.mit.edu	37	chr11	68181159	68181159	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgtgtgtgttcatgcaggtCaggagcgggtcgtgattgcc	16	9	2	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr11:68181159C>T	uc001ont.3	+	11	2581	c.2506C>T	c.(2506-2508)Cag>Tag	p.Q836*	LRP5_uc009ysg.3_Nonsense_Mutation_p.Q246*	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	836	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCATGCAGGTCAGGAGCGGGT	0.607													4	50					0	0	1	0	0	T	68181159	C	T	68181159	4	4	101	1	0	0	0	0	0	1	0	0	8960	827	29	2	2552	2	LRP5	11	68181159	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08		68181159	66825357	18	1751											
PCDH9	5101	broad.mit.edu	37	chr13	67801027	67801027	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctgtttttcggtccagatCaaagaaggaggcattcggtc	11	9	1	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr13:67801027C>T	uc001vik.3	-	1	2238	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	PCDH9_uc001vil.3_Missense_Mutation_p.D516N|PCDH9_uc010thl.2_Missense_Mutation_p.D516N|PCDH9_uc001vin.3_Missense_Mutation_p.D516N	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	516	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGGTCCAGATCAAAGAAGGAG	0.433													4	80					0	0	1	0	0	T	67801027	C	T	67801027	3	4	101	1	0	0	0	0	1	0	0	0	11518	826	29	2	2183	2	PCDH9	13	67801027	Missense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08		67801027	47368851	19	1752											
ZFHX3	463	broad.mit.edu	37	chr16	72829670	72829670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccatctttgccctctcccTgattctcataattcttcctg	3	16	4	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr16:72829670T>C	uc002fck.3	-	8	7584	c.6911A>G	c.(6910-6912)cAg>cGg	p.Q2304R	ZFHX3_uc002fcl.3_Missense_Mutation_p.Q1390R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2304					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCCTCTCCCTGATTCTCATA	0.443													3	129					0	0	1	0	0	C	72829670	T	C	72829670	3	2	101	1	0	0	0	0	1	0	0	0	17631	1580	55	3	4208	3	ZFHX3	16	72829670	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		72829670	17525083	20	1753											
MGAT5B	146664	broad.mit.edu	37	chr17	74878302	74878302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagctgatggtgaagcGcatggacgcactggccaggc	17	10	0	2			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr17:74878302G>A	uc002jti.3	+	1	387	c.284G>A	c.(283-285)cGc>cAc	p.R95H	MGAT5B_uc002jtg.4_Missense_Mutation_p.R84H|MGAT5B_uc002jth.3_Missense_Mutation_p.R84H	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	84						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGTGAAGCGCATGGACGCA	0.672													6	21					0	0	1	0	0	A	74878302	G	A	74878302	3	1	101	1	0	0	0	0	1	0	0	0	9549	1087	38	1	362	1	MGAT5B	17	74878302	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		74878302	6316908	21	1754											
ABCB7	22	broad.mit.edu	37	chrX	74293735	74293735	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcaactgtgaatgctgtGtatgtaccaagtgttccaag	10	8	0	1			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chrX:74293735G>T	uc004ebz.3	-	6	940	c.915C>A	c.(913-915)taC>taA	p.Y305*	ABCB7_uc010nlt.3_Nonsense_Mutation_p.Y264*|ABCB7_uc004eca.3_Nonsense_Mutation_p.Y304*|ABCB7_uc011mqn.2_Nonsense_Mutation_p.Y278*|ABCB7_uc010nls.3_Nonsense_Mutation_p.Y265*	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	304	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGAATGCTGTGTATGTACCAA	0.373													4	55					0	0	1	0	0	T	74293735	G	T	74293735	4	4	101	1	0	0	0	0	0	1	0	0	46	1372	48	4	1386	4	ABCB7	23	74293735	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		74293735	80976825	22	1755											
ARHGEF2	9181	broad.mit.edu	37	chr1	155927538	155927538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgacccggatccaggTgctccggtcatcccgggatg	13	13	1	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr1:155927538T>C	uc001fmu.2	-	16	2068	c.1813A>G	c.(1813-1815)Acc>Gcc	p.T605A	ARHGEF2_uc001fmr.2_Missense_Mutation_p.T533A|ARHGEF2_uc001fms.2_Missense_Mutation_p.T560A|ARHGEF2_uc001fmt.2_Missense_Mutation_p.T561A	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	561					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGATCCAGGTGCTCCGGTCA	0.582													5	57					0	0	1	0	0	C	155927538	T	C	155927538	3	2	102	1	0	0	0	0	1	0	0	0	903	1696	59	3	1319	3	ARHGEF2	1	155927538	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08		155927538	93323083	1	1756											
CRP	1401	broad.mit.edu	37	chr1	159683396	159683396	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagttcaggacattaggactGaagggcccgccaagatagat	12	9	1	3			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr1:159683396G>A	uc001ftw.3	-	1	698	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	198	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CATTAGGACTGAAGGGCCCGC	0.542													31	101					0	0	1	0	0	A	159683396	G	A	159683396	2	1	102	1	0	0	0	0	0	0	0	1	3895	1281	45	2		2	CRP	1	159683396	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	3755858	159683396	89567225	2	1757											
APOB	338	broad.mit.edu	37	chr2	21229161	21229161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcttcactgaagaccGtgtgctcttggaattcaagt	10	10	3	2	rs144467873		TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:21229161G>A	uc002red.3	-	25	10707	c.10579C>T	c.(10579-10581)Cgg>Tgg	p.R3527W		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3527			R -> Q (in FDB; dbSNP:rs5742904).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTGAAGACCGTGTGCTCTTG	0.433													4	139					0	0	1	0	0	A	21229161	G	A	21229161	3	1	102	1	0	0	0	0	1	0	0	0	785	1144	40	1	3128	1	APOB	2	21229161	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		21229161	221970212	3	1758											
RALB	5899	broad.mit.edu	37	chr2	121050797	121050797	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatggcaagaaaagcagcaaGaacaagaaaagttttaaaga	9	4	0	4			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:121050797G>A	uc010yys.2	+	4	691	c.648G>A	c.(646-648)aaG>aaA	p.K216K	RALB_uc002tmk.3_Silent_p.K194K|RALB_uc002tml.3_Silent_p.K215K|RALB_uc010yyt.2_Non-coding_Transcript	NM_002881	NP_002872	P11234	RALB_HUMAN	Homo sapiens v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) (RALB), mRNA.	194					Ras protein signal transduction|apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AAAGCAGCAAGAACAAGAAAA	0.423													5	38					0	0	1	0	0	A	121050797	G	A	121050797	2	1	102	1	0	0	0	0	0	0	0	1	13011	933	33	2		2	RALB	2	121050797	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	99821636	121050797	122148576	4	1759											
TTLL4	9654	broad.mit.edu	37	chr2	219603432	219603432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgtgaggaaattgaccGcaagaggctttgagaagatg	15	6	0	5	rs138326187	byFrequency	TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:219603432G>A	uc002viy.3	+	2	1403	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	TTLL4_uc010zkl.1_Missense_Mutation_p.A180T|TTLL4_uc010fvx.3_Missense_Mutation_p.A345T	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	345					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAAATTGACCGCAAGAGGCTT	0.542													4	109					0	0	1	0	0	A	219603432	G	A	219603432	3	1	102	1	0	0	0	0	1	0	0	0	16726	1087	38	1	1035	1	TTLL4	2	219603432	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	98552635	219603432	23595941	5	1760											
KIAA0947	23379	broad.mit.edu	37	chr5	5463854	5463854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgacttctgctgagaaGtccccagaggccagtcacac	10	14	2	3			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr5:5463854G>A	uc003jdm.4	+	12	4629	c.4407G>A	c.(4405-4407)aaG>aaA	p.K1469K		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1469										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGCTGAGAAGTCCCCAGAGG	0.522													4	112					0	0	1	0	0	A	5463854	G	A	5463854	2	1	102	1	0	0	0	0	0	0	0	1	8202	1020	36	2		2	KIAA0947	5	5463854	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		5463854	175451406	6	1761											
PTGER4	5734	broad.mit.edu	37	chr5	40681232	40681232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgctgtgcaagtcgcGcaaggagcagaaggagacga	17	8	0	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr5:40681232G>A	uc003jlz.3	+	1	729	c.137G>A	c.(136-138)cGc>cAc	p.R46H		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	46					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGCAAGTCGCGCAAGGAGCAG	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	76					0	0	1	0	0	A	40681232	G	A	40681232	3	1	102	1	0	0	0	0	1	0	0	0	12745	1087	38	1	139	1	PTGER4	5	40681232	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	35217378	40681232	140234028	7	1762											
FRS3	10817	broad.mit.edu	37	chr6	41738433	41738433	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagagctctctgcaggTtggacatggccacggtcttt	15	10	2	1			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr6:41738433T>C	uc003orc.1	-	6	1647	c.1403A>G	c.(1402-1404)aAc>aGc	p.N468S		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	468					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCTGCAGGTTGGACATGGC	0.637													6	99					0	0	1	0	0	C	41738433	T	C	41738433	3	2	102	1	0	0	0	0	1	0	0	0	6062	1725	60	3	79	3	FRS3	6	41738433	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08		41738433	129376634	8	1763											
SNX3	8724	broad.mit.edu	37	chr6	108581972	108581972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacggcctcaccttgacccTgatttcgtaagtggtgaagc	11	11	1	4			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr6:108581972T>C	uc003psh.3	-	0	493	c.154A>G	c.(154-156)Agg>Ggg	p.R52G	SNX3_uc003psi.3_Missense_Mutation_p.R52G|SNX3_uc010kdi.3_Non-coding_Transcript	NM_003795	NP_003786	O60493	SNX3_HUMAN	Homo sapiens sorting nexin 3 (SNX3), transcript variant 1, mRNA.	52	PX.				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		ACCTTGACCCTGATTTCGTAA	0.662													3	56					0	0	1	0	0	C	108581972	T	C	108581972	3	2	102	1	0	0	0	0	1	0	0	0	14899	1579	55	3	350	3	SNX3	6	108581972	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08	66843539	108581972	62533095	9	1764											
SNX13	23161	broad.mit.edu	37	chr7	17855871	17855872	+	Frame_Shift_Ins	INS	-	-	T													tatccatattattaaaagtcINSttttttccaggaagtttcaa							TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:17855871_17855872insT	uc003stv.3	-	18	2099_2100	c.1886_1887insA	c.(1885-1887)aagfs	p.K629fs	SNX13_uc010kuc.3_Frame_Shift_Ins_p.K426fs|SNX13_uc003stw.1_Frame_Shift_Ins_p.K640fs|SNX13_uc010kub.3_Frame_Shift_Ins_p.K35fs	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	640	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TATTAAAAGTCTTTTTTCCAGG	0.292													2	4	---	---	---	---						T	17855872	-	T	17855871	7	5	102	1	0	1	1	0	0	0	0	0	14884	912	32	0	1018	0	SNX13	7	17855871	Frame_Shift_Ins	INS	-	TCGA-DJ-A2QA-01A-11D-A18F-08		17855871	141282792	10	1765											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	102	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2QA-01A-11D-A18F-08	122597265	140453136	18685527	11	1766											
MLL3	58508	broad.mit.edu	37	chr7	151864343	151864343	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcagtacgttgtttagctGaaagggccttcttagatttt	11	6	1	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:151864343G>A	uc003wla.3	-	41	9857	c.9638C>T	c.(9637-9639)tCa>tTa	p.S3213L	MLL3_uc003wkz.3_Missense_Mutation_p.S2274L|MLL3_uc003wky.3_Missense_Mutation_p.S722L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3213	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGTTTAGCTGAAAGGGCCTT	0.443			N		medulloblastoma								36	97					0	0	1	0	0	A	151864343	G	A	151864343	3	1	102	1	0	0	0	0	1	0	0	0	9622	1294	45	2	5169	2	MLL3	7	151864343	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	11411207	151864343	7274320	12	1767											
RAB3IP	117177	broad.mit.edu	37	chr12	70149196	70149196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcttttgctatggctaAtgatcccttggaaggcttcc	11	9	0	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr12:70149196A>G	uc001svp.3	+	1	503	c.56A>G	c.(55-57)aAt>aGt	p.N19S	RAB3IP_uc021rao.1_Missense_Mutation_p.N3S|RAB3IP_uc001svm.3_Missense_Mutation_p.N3S|RAB3IP_uc001svn.3_Missense_Mutation_p.N3S|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.N19S|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	19					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTATGGCTAATGATCCCTTG	0.353													3	66					0	0	1	0	0	G	70149196	A	G	70149196	3	3	102	1	0	0	0	0	1	0	0	0	12938	101	4	3	62	3	RAB3IP	12	70149196	Missense_Mutation	SNP	A	TCGA-DJ-A2QA-01A-11D-A18F-08		70149196	63702699	13	1768											
PDS5B	23047	broad.mit.edu	37	chr13	33315257	33315257	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctaaactttgggttccagatGaagaagtatctcctgagaca	9	8	1	4			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr13:33315257G>A	uc010abf.3	+	21	2632	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	816					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GGTTCCAGATGAAGAAGTATC	0.289													21	61					0	0	1	0	0	A	33315257	G	A	33315257	3	1	102	1	0	0	0	0	1	0	0	0	11692	1291	45	2	2528	2	PDS5B	13	33315257	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		33315257	81854621	14	1769											
ITGB3	3690	broad.mit.edu	37	chr17	45367119	45367119	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttgatctttgcagtgactGaaaatgtagtcaatctctat	7	6	3	3			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr17:45367119G>A	uc002ilj.3	+	6	1032	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ITGB3_uc002ili.1_Missense_Mutation_p.E338K|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	338	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TGCAGTGACTGAAAATGTAGT	0.483													21	35					0	0	1	0	0	A	45367119	G	A	45367119	3	1	102	1	0	0	0	0	1	0	0	0	7895	1291	45	2	1038	2	ITGB3	17	45367119	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		45367119	35828091	15	1770											
MKS1	54903	broad.mit.edu	37	chr17	56283864	56283864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagcggaaggtgacagtGcctgtggtctctgtgcggag	17	8	1	1			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr17:56283864G>A	uc002ivr.2	-	15	1527	c.1452C>T	c.(1450-1452)ggC>ggT	p.G484G	MKS1_uc010wnq.2_Silent_p.G281G|MKS1_uc021uam.1_Silent_p.G474G	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	484					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTGACAGTGCCTGTGGTCT	0.617													4	71					0	0	1	0	0	A	56283864	G	A	56283864	2	1	102	1	0	0	0	0	0	0	0	1	9609	1306	46	2		2	MKS1	17	56283864	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	10916745	56283864	24911346	16	1771											
DNASE2	1777	broad.mit.edu	37	chr19	12989328	12989328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctccaagtcggggaattCctgggcaaagatcccttcca	9	12	1	1			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr19:12989328C>T	uc002mvn.1	-	4	723	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	DNASE2_uc010xmr.1_Missense_Mutation_p.E138K	NM_001375	NP_001366	O00115	DNS2A_HUMAN	Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.	193					apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						TCGGGGAATTCCTGGGCAAAG	0.557													13	39					0	0	1	0	0	T	12989328	C	T	12989328	3	4	102	1	0	0	0	0	1	0	0	0	4664	864	30	2	513	2	DNASE2	19	12989328	Missense_Mutation	SNP	C	TCGA-DJ-A2QA-01A-11D-A18F-08		12989328	46139655	17	1772											
ISOC2	79763	broad.mit.edu	37	chr19	55966378	55966378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgaactgggggtggacgGcatcgcccacaagctgcaga	14	12	0	2			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr19:55966378G>A	uc002qla.3	-	4	737	c.563C>T	c.(562-564)gCc>gTc	p.A188V	ISOC2_uc002qlb.3_Missense_Mutation_p.A172V|ISOC2_uc002qlc.3_Missense_Mutation_p.A102V	NM_024710	NP_078986	Q96AB3	ISOC2_HUMAN	Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	172					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GGGGTGGACGGCATCGCCCAC	0.622											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	47					0	0	1	0	0	A	55966378	G	A	55966378	3	1	102	1	0	0	0	0	1	0	0	0	7863	1203	42	2	110	2	ISOC2	19	55966378	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	42977050	55966378	3162605	18	1773											
FUNDC1	139341	broad.mit.edu	37	chrX	44402059	44402059	+	Frame_Shift_Del	DEL	G	G	-													ctggccgctcaccttggggaGgggggttccgggtcgccatg							TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chrX:44402059delG	uc004dgc.3	-	0	163	c.20delC	c.(19-21)cctfs	p.P7fs		NM_173794	NP_776155	Q8IVP5	FUND1_HUMAN	Homo sapiens FUN14 domain containing 1 (FUNDC1), mRNA.	7										breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						ACCTTGGGGAGGGGGGTTCCG	0.657													2	4	---	---	---	---						-	44402059	G	-	44402059	7	5	102	1	0	1	0	1	0	0	0	0	6097	1000	35	0	467	0	FUNDC1	23	44402059	Frame_Shift_Del	DEL	G	TCGA-DJ-A2QA-01A-11D-A18F-08		44402059	110868501	19	1774											
CDKN2C	1031	broad.mit.edu	37	chr1	51439634	51439634	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgctaatcccgatttgaaaGaccgaactggtttcgctgtc	10	10	0	2			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr1:51439634G>A	uc001csf.3	+	2	2174	c.199G>A	c.(199-201)Gac>Aac	p.D67N	CDKN2C_uc001csg.3_Missense_Mutation_p.D67N	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	67					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGATTTGAAAGACCGAACTGG	0.448			D		"glioma, MM"								30	50					0	0	1	0	0	A	51439634	G	A	51439634	3	1	103	1	0	0	0	0	1	0	0	0	3165	942	33	2	205	2	CDKN2C	1	51439634	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		51439634	197810987	1	1775											
DSTYK	25778	broad.mit.edu	37	chr1	205128809	205128809	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgcttcggcagagaccTggagggaaggagagagatct	15	8	2	3			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr1:205128809T>G	uc001hbw.3	-	9	2170	c.2106_splice	c.e9-1	p.R702_splice	DSTYK_uc001hbx.3_Splice_Site_p.R702_splice	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	702	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GGCAGAGACCTGGAGGGAAGG	0.498													8	22					0	0	1	0	0	G	205128809	T	G	205128809	5	3	103	1	0	0	0	0	0	0	1	0	4785	1594	55	5	705	5	DSTYK	1	205128809	Splice_Site	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08	153689175	205128809	44121812	2	1776											
PCDHB9	56127	broad.mit.edu	37	chr5	140568536	140568536	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggcgctggtgcgcGtactggtgctggacgccaac	17	12	0	0			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr5:140568536G>C	uc003liw.1	+	1	1642	c.1642G>C	c.(1642-1644)Gta>Cta	p.V548L		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	549	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCGCGTACTGGTGCT	0.711													5	54					0	0	1	0	0	C	140568536	G	C	140568536	3	2	103	1	0	0	0	0	1	0	0	0	11549	1132	40	4	1646	4	PCDHB9	5	140568536	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		140568536	40346724	3	1777											
LARS	51520	broad.mit.edu	37	chr5	145524092	145524092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaattctcttctccataaTccaagtacctgggagtggac	7	12	2	0			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr5:145524092T>C	uc003lnx.1	-	16	1836	c.1598A>G	c.(1597-1599)gAt>gGt	p.D533G	LARS_uc011dbq.1_Missense_Mutation_p.D487G|LARS_uc011dbr.1_Missense_Mutation_p.D479G|LARS_uc011dbs.1_Missense_Mutation_p.D506G	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	533					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCTCCATAATCCAAGTACCT	0.388													30	56					0	0	1	0	0	C	145524092	T	C	145524092	3	2	103	1	0	0	0	0	1	0	0	0	8634	1435	50	3	1996	3	LARS	5	145524092	Missense_Mutation	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08	4955556	145524092	35391168	4	1778											
TRPV5	56302	broad.mit.edu	37	chr7	142606711	142606711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacagatcccggagcgagGccacaggcagcgaggcagct	14	15	0	1			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr7:142606711G>A	uc003wby.1	-	13	2104	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	614					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCGGAGCGAGGCCACAGGCAG	0.592													10	30					0	0	1	0	0	A	142606711	G	A	142606711	3	1	103	1	0	0	0	0	1	0	0	0	16596	1203	42	2	357	2	TRPV5	7	142606711	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		142606711	16531952	5	1779											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			15	42					0	0	1	0	0	C	533874	T	C	533874	3	2	103	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08		533874	134472642	6	1780											
CD163L1	283316	broad.mit.edu	37	chr12	7520684	7520684	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcctagtggggctctcaccTctgaggggcagatgtttttg	13	9	2	2			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr12:7520684T>A	uc010sge.2	-	17	4239	c.4213_splice	c.e17+1	p.V1405_splice	CD163L1_uc001qsy.3_Splice_Site_p.V1395_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1395						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGCTCTCACCTCTGAGGGGCA	0.463													17	45					0	0	1	0	0	A	7520684	T	A	7520684	5	1	103	1	0	0	0	0	0	0	1	0	2968	1565	54	5	191	5	CD163L1	12	7520684	Splice_Site	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08		7520684	126331211	7	1781											
DUOX2	50506	broad.mit.edu	37	chr15	45399037	45399037	+	Frame_Shift_Del	DEL	A	A	-													cctaagagctcacctaagggAaggcagcagagagcaatgat							TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr15:45399037delA	uc001zun.3	-	14	2027	c.1824delT	c.(1822-1824)cttfs	p.L608fs	DUOX2_uc010bea.3_Frame_Shift_Del_p.L608fs	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	608					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACCTAAGGGAAGGCAGCAGA	0.582													2	4	---	---	---	---						-	45399037	A	-	45399037	7	5	103	1	0	1	0	1	0	0	0	0	4801	233	9	0	2902	0	DUOX2	15	45399037	Frame_Shift_Del	DEL	A	TCGA-DJ-A2QB-01A-11D-A19J-08		45399037	57132355	8	1782											
PLXNB2	23654	broad.mit.edu	37	chr22	50727260	50727260	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtttatctccacaaggataGagtcgtactctgaggaggtg	12	7	2	2			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr22:50727260G>C	uc003bkv.4	-	4	1385	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	431	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAAGGATAGAGTCGTACTC	0.612													4	7					0	0	1	0	0	C	50727260	G	C	50727260	3	2	103	1	0	0	0	0	1	0	0	0	12124	942	33	4	4356	4	PLXNB2	22	50727260	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		50727260	577306	9	1783											
NRD1	4898	broad.mit.edu	37	chr1	52260235	52260235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgggcagctctaccaccTggaactgcacaggcatctcc	9	16	2	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:52260235T>C	uc001ctc.4	-	25	3210	c.2888A>G	c.(2887-2889)cAg>cGg	p.Q963R	NRD1_uc009vzb.3_Missense_Mutation_p.Q658R|NRD1_uc001cte.3_Missense_Mutation_p.Q831R|NRD1_uc001ctd.4_Missense_Mutation_p.Q895R|NRD1_uc001ctf.2_Missense_Mutation_p.Q895R|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	894					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTCTACCACCTGGAACTGCAC	0.493													4	311					0	0	1	0	0	C	52260235	T	C	52260235	3	2	104	1	0	0	0	0	1	0	0	0	10645	1580	55	3	803	3	NRD1	1	52260235	Missense_Mutation	SNP	T	TCGA-DJ-A2QC-01A-11D-A18F-08		52260235	196990386	1	1784											
NSL1	25936	broad.mit.edu	37	chr1	212964938	212964938	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtccccgagcttttgcacGaagcggccgcacagttgtag	13	13	0	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:212964938G>A	uc001hjn.3	-	0	202	c.168C>T	c.(166-168)ttC>ttT	p.F56F	NSL1_uc001hjm.3_Silent_p.F56F|NSL1_uc010pti.2_Silent_p.F56F|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.	56					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTTTGCACGAAGCGGCCGC	0.617													14	197					0	0	1	0	0	A	212964938	G	A	212964938	2	1	104	1	0	0	0	0	0	0	0	1	10673	1049	37	1		1	NSL1	1	212964938	Silent	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08	160704703	212964938	36285683	2	1785											
SOS1	6654	broad.mit.edu	37	chr2	39250247	39250247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccattataaattcattaCaacactgtccaatgtctttt	2	10	2	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr2:39250247C>T	uc002rrk.4	-	9	1363	c.1322G>A	c.(1321-1323)tGt>tAt	p.C441Y	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.C55Y|SOS1_uc002rrl.3_Missense_Mutation_p.C173Y	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	441			C -> Y (in NS4).		Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAATTCATTACAACACTGTCC	0.363									Noonan syndrome				4	112					0	0	1	0	0	T	39250247	C	T	39250247	3	4	104	1	0	0	0	0	1	0	0	0	14936	478	17	2	2735	2	SOS1	2	39250247	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		39250247	203949126	3	1786											
SLC6A19	340024	broad.mit.edu	37	chr5	1219168	1219168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggagggcgtcgttgtgCccctgcaggacctcagagtc	14	12	1	1			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr5:1219168C>T	uc003jbw.4	+	8	1380	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	442					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTCGTTGTGCCCCTGCAGGA	0.592													3	32					0	0	1	0	0	T	1219168	C	T	1219168	3	4	104	1	0	0	0	0	1	0	0	0	14682	739	26	2	1358	2	SLC6A19	5	1219168	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		1219168	179696092	4	1787											
CFB	629	broad.mit.edu	37	chr6	31901656	31901656	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagaaccctactcttAtgacttccctgaggacgtgg	8	15	1	3			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr6:31901656A>C	uc011dor.2	+	3	707	c.443A>C	c.(442-444)tAt>tCt	p.Y148S	CFB_uc003nyc.2_Missense_Mutation_p.M42L|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Missense_Mutation_p.Y87S|CFB_uc003nye.4_Missense_Mutation_p.Y210S|CFB_uc003nyf.3_Missense_Mutation_p.Y210S|CFB_uc010jtk.3_Missense_Mutation_p.Y78S|CFB_uc011doq.2_Missense_Mutation_p.Y181S	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	224	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCCTACTCTTATGACTTCCCT	0.627													24	27					0	0	1	0	0	C	31901656	A	C	31901656	3	2	104	1	0	0	0	0	1	0	0	0	3278	449	16	5		5	CFB	6	31901656	Missense_Mutation	SNP	A	TCGA-DJ-A2QC-01A-11D-A18F-08		31901656	139213411	5	1788											
SLC12A9	56996	broad.mit.edu	37	chr7	100454533	100454533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcctgccccagggctaCggctggaacctgctgtatgg	15	13	0	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:100454533C>T	uc003uwp.3	+	4	634	c.492C>T	c.(490-492)taC>taT	p.Y164Y	SLC12A9_uc003uwo.1_Silent_p.Y75Y|SLC12A9_uc003uwq.3_Silent_p.Y75Y|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'UTR|SLC12A9_uc003uwv.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	164						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCAGGGCTACGGCTGGAACC	0.662													24	49					0	0	1	0	0	T	100454533	C	T	100454533	2	4	104	1	0	0	0	0	0	0	0	1	14390	547	19	1		1	SLC12A9	7	100454533	Silent	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		100454533	58684130	6	1789											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	40					0	0	1	0	0	T	140453136	A	T	140453136	3	4	104	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2QC-01A-11D-A18F-08	39998603	140453136	18685527	7	1790											
DOCK5	80005	broad.mit.edu	37	chr8	25253084	25253084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcagtcctctggagaatgCcatcgaaaccatggagctga	11	10	2	2			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25253084C>T	uc003xeg.3	+	44	4690	c.4553C>T	c.(4552-4554)gCc>gTc	p.A1518V	DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Missense_Mutation_p.A1088V|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1518	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTGGAGAATGCCATCGAAACC	0.512													4	95					0	0	1	0	0	T	25253084	C	T	25253084	3	4	104	1	0	0	0	0	1	0	0	0	4690	739	26	2	4731	2	DOCK5	8	25253084	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		25253084	121110938	8	1791											
CDCA2	157313	broad.mit.edu	37	chr8	25340935	25340935	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacactgtaacaacctctaTgatgatgatgggactcatcc	8	10	2	3			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25340935T>G	uc003xep.1	+	8	1530	c.1053T>G	c.(1051-1053)taT>taG	p.Y351*	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Nonsense_Mutation_p.Y351*|CDCA2_uc003xeq.1_Nonsense_Mutation_p.Y336*|CDCA2_uc003xer.1_Nonsense_Mutation_p.Y14*	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	351					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACAACCTCTATGATGATGATG	0.328													4	46					0	0	1	0	0	G	25340935	T	G	25340935	4	3	104	1	0	0	0	0	0	1	0	0	3086	1471	51	5	1083	5	CDCA2	8	25340935	Nonsense_Mutation	SNP	T	TCGA-DJ-A2QC-01A-11D-A18F-08	87851	25340935	121023087	9	1792											
ZNF251	90987	broad.mit.edu	37	chr8	145948217	145948217	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaagacggaggtgagaattGagtccaaaagttttcccaca	11	7	0	4			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:145948217G>A	uc003zdv.4	-	4	1084	c.828C>T	c.(826-828)ctC>ctT	p.L276L		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGTGAGAATTGAGTCCAAAAG	0.438													6	61					0	0	1	0	0	A	145948217	G	A	145948217	2	1	104	1	0	0	0	0	0	0	0	1	17793	1277	45	2		2	ZNF251	8	145948217	Silent	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08	120607282	145948217	415805	10	1793											
CDNF	441549	broad.mit.edu	37	chr10	14879853	14879853	+	Frame_Shift_Del	DEL	C	C	-													tcacagtcggcccctggccgCcccccggcctcctggccctg							TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:14879853delC	uc001inb.1	-	0	131	c.93delG	c.(91-93)gggfs	p.G31fs	CDNF_uc010qbv.1_Frame_Shift_Del_p.G31fs|CDNF_uc001inc.1_Intron|HSPA14_uc001ind.3_5'Flank|HSPA14_uc001ine.3_5'Flank|HSPA14_uc010qbw.2_5'Flank|HSPA14_uc001inf.3_5'Flank	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	Homo sapiens cerebral dopamine neurotrophic factor (CDNF), mRNA.	31						extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						CCCCTGGCCGCCCCCCGGCCT	0.701													2	4	---	---	---	---						-	14879853	C	-	14879853	7	5	104	1	0	1	0	1	0	0	0	0	3168	726	26	0	486	0	CDNF	10	14879853	Frame_Shift_Del	DEL	C	TCGA-DJ-A2QC-01A-11D-A18F-08		14879853	120654894	11	1794											
SEC31B	25956	broad.mit.edu	37	chr10	102267770	102267770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaatgtgttgggcttgCcggttccaagacagtgcctt	13	9	0	2			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:102267770C>T	uc001krc.1	-	5	636	c.534G>A	c.(532-534)cgG>cgA	p.R178R	SEC31B_uc010qpo.1_Silent_p.R177R|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Silent_p.R181R|SEC31B_uc009xwn.1_Silent_p.R178R|SEC31B_uc009xwo.1_Silent_p.R178R|SEC31B_uc010qpq.1_Silent_p.R21R|SEC31B_uc010qpr.1_Non-coding_Transcript	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	178					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517													4	123					0	0	1	0	0	T	102267770	C	T	102267770	2	4	104	1	0	0	0	0	0	0	0	1	13999	726	26	2		2	SEC31B	10	102267770	Silent	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08	87387917	102267770	33266977	12	1795											
KCNK18	338567	broad.mit.edu	37	chr10	118969513	118969513	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatccccctccccatcatTgcccttattgtttttgccta	4	16	1	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:118969513T>G	uc010qsr.2	+	2	858	c.858T>G	c.(856-858)atT>atG	p.I286M		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	286						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TCCCCATCATTGCCCTTATTG	0.502													12	129					0	0	1	0	0	G	118969513	T	G	118969513	3	3	104	1	0	0	0	0	1	0	0	0	8065	1800	63	5	868	5	KCNK18	10	118969513	Missense_Mutation	SNP	T	TCGA-DJ-A2QC-01A-11D-A18F-08	16701743	118969513	16565234	13	1796											
OR6Q1	219952	broad.mit.edu	37	chr11	57798858	57798858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtgtcctggggcacctGcatccgtctggcagctgcct	12	13	1	0			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr11:57798858G>A	uc010rjz.2	+	0	434	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGGGCACCTGCATCCGTCTG	0.517													4	87					0	0	1	0	0	A	57798858	G	A	57798858	3	1	104	1	0	0	0	0	1	0	0	0	11208	1319	46	2	436	2	OR6Q1	11	57798858	Missense_Mutation	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08		57798858	77207658	14	1797											
OR4K2	390431	broad.mit.edu	37	chr14	20345045	20345045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcaacaagtggcataattGcgttgtcctgttttattgtt	8	7	1	0	rs145713695		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr14:20345045G>T	uc001vwh.1	+	0	619	c.619G>T	c.(619-621)Gcg>Tcg	p.A207S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCATAATTGCGTTGTCCTG	0.403													11	354					0	0	1	0	0	T	20345045	G	T	20345045	3	4	104	1	0	0	0	0	1	0	0	0	11072	1319	46	4	621	4	OR4K2	14	20345045	Missense_Mutation	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08		20345045	87004495	15	1798											
ANKRD11	29123	broad.mit.edu	37	chr16	89352008	89352008	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagtccgtgttgttgccgtcGactgaactggaaggtgcgaa	15	8	0	1			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr16:89352008G>C	uc002fmx.1	-	8	1403	c.942C>G	c.(940-942)gtC>gtG	p.V314V	ANKRD11_uc002fmy.1_Silent_p.V314V|ANKRD11_uc002fnc.1_Silent_p.V314V|ANKRD11_uc002fnb.1_Silent_p.V271V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	314						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTTGCCGTCGACTGAACTGG	0.572													6	105					0	0	1	0	0	C	89352008	G	C	89352008	2	2	104	1	0	0	0	0	0	0	0	1	639	1045	37	4		4	ANKRD11	16	89352008	Silent	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08		89352008	1002745	16	1799											
BRIP1	83990	broad.mit.edu	37	chr17	59861733	59861734	+	Missense_Mutation	DNP	CC	CC	AA													cttctcttgcctcctctttaCcataaattggtgagattttt							TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr17:59861733_59861734CC>AA	uc002izk.2	-	10	1831_1832	c.1525_1526GG>TT	c.(1525-1527)ggt>TTt	p.G509F		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	509					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTCCTCTTTACCATAAATTGGT	0.347			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					6	202					0	0	1	0	0	AA	59861734	CC	AA	59861733	3	1	104	1	0	0	0	0	1	0	0	0	1514	507	18	4	2263	4	BRIP1	17	59861733	Missense_Mutation	DNP	CC	TCGA-DJ-A2QC-01A-11D-A18F-08		59861733	21333477	17	1800											
NANOS3	342977	broad.mit.edu	37	chr19	13991282	13991282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgccgggaagtctgagCcttcgccctcctgctctccc	12	16	2	1			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr19:13991282C>T	uc002mxj.4	+	1	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	163					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAAGTCTGAGCCTTCGCCCTC	0.607											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	67					0	0	1	0	0	T	13991282	C	T	13991282	3	4	104	1	0	0	0	0	1	0	0	0	10153	739	26	2	550	2	NANOS3	19	13991282	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		13991282	45137701	18	1801											
YPEL1	29799	broad.mit.edu	37	chr22	22055423	22055423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaaagttcgcacattactCccagccattgtctttgatca	8	11	2	1			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:22055423C>T	uc002zvl.3	-	4	687	c.355G>A	c.(355-357)Gag>Aag	p.E119K	YPEL1_uc002zvm.3_Non-coding_Transcript	NM_013313	NP_037445	O60688	YPEL1_HUMAN	Homo sapiens yippee-like 1 (Drosophila) (YPEL1), mRNA.	119						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GCACATTACTCCCAGCCATTG	0.408													3	30					0	0	1	0	0	T	22055423	C	T	22055423	3	4	104	1	0	0	0	0	1	0	0	0	17486	864	30	2	8	2	YPEL1	22	22055423	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		22055423	29249143	19	1802											
APOL6	80830	broad.mit.edu	37	chr22	36055153	36055153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaacaccttgaagtatgCcaagaaaaacgtccgtgcat	8	9	0	3			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:36055153C>T	uc003aoe.3	+	2	836	c.542C>T	c.(541-543)gCc>gTc	p.A181V	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	181					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TTGAAGTATGCCAAGAAAAAC	0.498													4	80					0	0	1	0	0	T	36055153	C	T	36055153	3	4	104	1	0	0	0	0	1	0	0	0	810	739	26	2	548	2	APOL6	22	36055153	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08	13999730	36055153	15249413	20	1803											
MTM1	4534	broad.mit.edu	37	chrX	149832053	149832053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactctgggtgaattactacAttagatggaaccccaggatc	9	9	1	2			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chrX:149832053A>G	uc004fef.4	+	13	1691	c.1615A>G	c.(1615-1617)Att>Gtt	p.I539V	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.I502V|MTM1_uc011mxz.2_Missense_Mutation_p.I424V|MTM1_uc010nte.3_Missense_Mutation_p.I407V	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	539					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GAATTACTACATTAGATGGAA	0.363													4	120					0	0	1	0	0	G	149832053	A	G	149832053	3	3	104	1	0	0	0	0	1	0	0	0	9937	217	8	3	1665	3	MTM1	23	149832053	Missense_Mutation	SNP	A	TCGA-DJ-A2QC-01A-11D-A18F-08		149832053	5438507	21	1804											
BRE	9577	broad.mit.edu	37	chr2	28152748	28152748	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccgatttaaactgcacAtaccatatgctggagagaca	9	9	0	2			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr2:28152748A>T	uc002rls.3	+	2	430	c.178A>T	c.(178-180)Ata>Tta	p.I60L	BRE_uc002rlp.1_Missense_Mutation_p.I60L|BRE_uc002rlq.3_Missense_Mutation_p.I60L|BRE_uc002rlr.3_Missense_Mutation_p.I60L|BRE_uc002rlt.3_Missense_Mutation_p.I60L|BRE_uc002rlu.3_Missense_Mutation_p.I60L|BRE_uc002rlv.3_5'UTR	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	60	UEV-like 1.				G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TAAACTGCACATACCATATGC	0.343													3	81					0	0	1	0	0	T	28152748	A	T	28152748	3	4	105	1	0	0	0	0	1	0	0	0	1509	217	8	5	184	5	BRE	2	28152748	Missense_Mutation	SNP	A	TCGA-DJ-A3UK-01A-11D-A22D-08		28152748	215046625	1	1805											
ABI3BP	25890	broad.mit.edu	37	chr3	100473513	100473513	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaccaagcgggttttTgggtttcacctggaattcat	10	10	3	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr3:100473513T>G	uc003dun.3	-	30	2825	c.2740A>C	c.(2740-2742)Aaa>Caa	p.K914Q	ABI3BP_uc003duj.3_Missense_Mutation_p.K494Q|ABI3BP_uc003duk.3_Missense_Mutation_p.K623Q|ABI3BP_uc003dul.3_Missense_Mutation_p.K744Q|ABI3BP_uc011bhd.2_Missense_Mutation_p.K868Q|ABI3BP_uc003dum.3_Missense_Mutation_p.K325Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	914	Fibronectin type-III 2.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGCGGGTTTTTGGGTTTCACC	0.413													2	11					0	0	1	0	0	G	100473513	T	G	100473513	3	3	105	1	0	0	0	0	1	0	0	0	91	1821	63	5	507	5	ABI3BP	3	100473513	Missense_Mutation	SNP	T	TCGA-DJ-A3UK-01A-11D-A22D-08		100473513	97548917	2	1806											
ATP6V1A	523	broad.mit.edu	37	chr3	113505224	113505224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagtccttgatgcccTttttccgtaagtttgagatg	10	9	0	3			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr3:113505224T>C	uc003eao.3	+	5	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	237					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATGCCCTTTTTCCGTAA	0.423													4	255					0	0	1	0	0	C	113505224	T	C	113505224	3	2	105	1	0	0	0	0	1	0	0	0	1177	1609	56	3	728	3	ATP6V1A	3	113505224	Missense_Mutation	SNP	T	TCGA-DJ-A3UK-01A-11D-A22D-08	13031711	113505224	84517206	3	1807											
LDB2	9079	broad.mit.edu	37	chr4	16900067	16900067	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctcctataaaatgggccGaaaggagaagaatagaaggg	13	6	0	3			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:16900067G>A	uc003goz.3	-	0	358	c.42C>T	c.(40-42)ttC>ttT	p.F14F	LDB2_uc003gpa.3_Silent_p.F14F|LDB2_uc011bxh.2_Silent_p.F14F|LDB2_uc003gpb.3_Silent_p.F14F|LDB2_uc010iee.3_Silent_p.F14F	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	14							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAATGGGCCGAAAGGAGAAG	0.458													3	79					0	0	1	0	0	A	16900067	G	A	16900067	2	1	105	1	0	0	0	0	0	0	0	1	8696	1049	37	1		1	LDB2	4	16900067	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		16900067	174254209	4	1808											
KIAA1211	57482	broad.mit.edu	37	chr4	57182522	57182522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggagcacgacaaggcaGcaaacaaaatgccactggca	10	13	0	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:57182522G>A	uc003hbk.2	+	7	3245	c.2854G>A	c.(2854-2856)Gca>Aca	p.A952T	KIAA1211_uc010iha.2_Missense_Mutation_p.A945T|KIAA1211_uc011bzz.1_Missense_Mutation_p.A862T|KIAA1211_uc003hbm.1_Missense_Mutation_p.A838T	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	952	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGACAAGGCAGCAAACAAAAT	0.632													3	63					0	0	1	0	0	A	57182522	G	A	57182522	3	1	105	1	0	0	0	0	1	0	0	0	8215	971	34	2	2872	2	KIAA1211	4	57182522	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	40282455	57182522	133971754	5	1809											
NAA11	84779	broad.mit.edu	37	chr4	80246702	80246702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggttactcttcctgacGtgcagagacacgtatttggc	12	11	1	2			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:80246702G>A	uc003hlt.4	-	0	470	c.330C>T	c.(328-330)caC>caT	p.H110H	NAA11_uc021xpl.1_Silent_p.H110H	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	110	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTTCCTGACGTGCAGAGACA	0.522													17	46					0	0	1	0	0	A	80246702	G	A	80246702	2	1	105	1	0	0	0	0	0	0	0	1	10117	1136	40	1		1	NAA11	4	80246702	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	23064180	80246702	110907574	6	1810											
PHACTR1	221692	broad.mit.edu	37	chr6	13283734	13283734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactacgtggaggtggctgaCgctcaggactatgaccgcag	15	10	1	2			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr6:13283734C>T	uc003nah.2	+	12	1963	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	PHACTR1_uc010jpc.3_Silent_p.D530D|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron|LOC100130357_uc003nak.1_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	530						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGGTGGCTGACGCTCAGGACT	0.597													9	210					0	0	1	0	0	T	13283734	C	T	13283734	2	4	105	1	0	0	0	0	0	0	0	1	11809	535	19	1		1	PHACTR1	6	13283734	Silent	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08		13283734	157831333	7	1811											
LAMA2	3908	broad.mit.edu	37	chr6	129649469	129649469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttctcaaccaggtggccGcacccctggaccaaccctgg	11	17	1	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr6:129649469G>A	uc021zfb.1	+	28	4328	c.4223G>A	c.(4222-4224)cGc>cAc	p.R1408H	LAMA2_uc003qbn.3_Missense_Mutation_p.R1408H|LAMA2_uc003qbo.3_Missense_Mutation_p.R1408H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1408	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1408H(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGGTGGCCGCACCCCTGGA	0.502													5	131					0	0	1	0	0	A	129649469	G	A	129649469	3	1	105	1	0	0	0	0	1	0	0	0	8606	1087	38	1	4337	1	LAMA2	6	129649469	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	116365735	129649469	41465598	8	1812											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				41	49					0	0	1	0	0	T	140453136	A	T	140453136	3	4	105	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UK-01A-11D-A22D-08		140453136	18685527	9	1813											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254877	24254877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctttacatctaaccaggagGaacaagacccagctaaccac	6	13	2	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr8:24254877G>A	uc003xdz.2	+	5	755	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	ADAMDEC1_uc010lub.2_Missense_Mutation_p.E100K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E100K	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	179					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TAACCAGGAGGAACAAGACCC	0.458													6	286					0	0	1	0	0	A	24254877	G	A	24254877	3	1	105	1	0	0	0	0	1	0	0	0	254	1175	41	2	557	2	ADAMDEC1	8	24254877	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		24254877	122109145	10	1814											
FXYD4	53828	broad.mit.edu	37	chr10	43869919	43869919	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctcctcccacacaggCctgactgccttggaagccaa	8	17	1	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr10:43869919C>G	uc001jaq.1	+	4	370	c.38_splice	c.e4-1	p.G13_splice		NM_001184963	NP_001171892	P59646	FXYD4_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 4 (FXYD4), transcript variant 2, mRNA.	13						integral to membrane				NS(1)|large_intestine(1)|lung(3)	5						CCCACACAGGCCTGACTGCCT	0.587													95	164					0	0	1	0	0	G	43869919	C	G	43869919	5	3	105	1	0	0	0	0	0	0	1	0	6120	753	26	4	45	4	FXYD4	10	43869919	Splice_Site	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08		43869919	91664828	11	1815											
TLL2	7093	broad.mit.edu	37	chr10	98188429	98188429	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaataaagctttcctcatcCgtcctttctatgaaggtcac	5	12	3	1	rs141217387		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr10:98188429C>A	uc001kml.2	-	4	838	c.597G>T	c.(595-597)acG>acT	p.T199T	TLL2_uc009xvf.2_Silent_p.T147T	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	199	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTTCCTCATCCGTCCTTTCTA	0.498													3	86					0	0	1	0	0	A	98188429	C	A	98188429	2	1	105	1	0	0	0	0	0	0	0	1	15943	639	23	4		4	TLL2	10	98188429	Silent	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08	54318510	98188429	37346318	12	1816											
B3GNT6	192134	broad.mit.edu	37	chr11	76751195	76751195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcaacctcacgctcaaGcacctgcacttgctcgactg	6	17	3	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr11:76751195G>A	uc021qnp.1	+	1	688	c.600G>A	c.(598-600)aaG>aaA	p.K200K	B3GNT6_uc021qnq.1_Silent_p.K200K	NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) (B3GNT6), mRNA.	200					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TCACGCTCAAGCACCTGCACT	0.697													78	88					0	0	1	0	0	A	76751195	G	A	76751195	2	1	105	1	0	0	0	0	0	0	0	1	1261	962	34	2		2	B3GNT6	11	76751195	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		76751195	58255321	13	1817											
CHRNE	1145	broad.mit.edu	37	chr17	4805305	4805305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgctgcggtagatggccGgaggcagccacgtcacggag	17	11	1	2	rs121909512		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:4805305G>A	uc002fzk.1	-	4	433	c.422C>T	c.(421-423)cCg>cTg	p.P141L	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	141			P -> L (in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh).		muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GTAGATGGCCGGAGGCAGCCA	0.617													3	102					0	0	1	0	0	A	4805305	G	A	4805305	3	1	105	1	0	0	0	0	1	0	0	0	3395	1116	39	1	1091	1	CHRNE	17	4805305	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		4805305	76389905	14	1818											
SHMT1	6470	broad.mit.edu	37	chr17	18232139	18232139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggagagcctgcacggcCgcctggtacttatcccctgc	11	17	0	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:18232139C>T	uc002gta.3	-	11	1567	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	SHMT1_uc002gsz.3_Silent_p.A234A|SHMT1_uc002gtb.3_Silent_p.A420A|SHMT1_uc010vxt.2_Silent_p.A321A	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	459					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCTGCACGGCCGCCTGGTACT	0.612													3	43					0	0	1	0	0	T	18232139	C	T	18232139	2	4	105	1	0	0	0	0	0	0	0	1	14285	639	23	1		1	SHMT1	17	18232139	Silent	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08	13426834	18232139	62963071	15	1819											
GAS2L2	246176	broad.mit.edu	37	chr17	34074068	34074068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctctctggaggcccccGtccctgctccccgttccctg	8	21	2	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:34074068G>A	uc002hjv.2	-	4	1080	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	351					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGGCCCCCGTCCCTGCTCC	0.612													10	96					0	0	1	0	0	A	34074068	G	A	34074068	3	1	105	1	0	0	0	0	1	0	0	0	6247	1145	40	1	1598	1	GAS2L2	17	34074068	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	15841929	34074068	47121142	16	1820											
SCPEP1	59342	broad.mit.edu	37	chr17	55058499	55058499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtatgggattatgtgacgGtccgcaaggatgcctacatg	13	7	0	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:55058499G>A	uc002iuv.4	+	1	186	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_5'UTR	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	45					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TTATGTGACGGTCCGCAAGGA	0.493													3	67					0	0	1	0	0	A	55058499	G	A	55058499	3	1	105	1	0	0	0	0	1	0	0	0	13935	1261	44	2	139	2	SCPEP1	17	55058499	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	20984431	55058499	26136711	17	1821											
TBC1D16	125058	broad.mit.edu	37	chr17	77926572	77926572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggggtctgcaggaggccGttgctgtccgggaaccgcag	18	11	1	0			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:77926572G>A	uc002jxj.3	-	3	941	c.825C>T	c.(823-825)aaC>aaT	p.N275N	TBC1D16_uc002jxh.3_5'Flank|TBC1D16_uc002jxi.3_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	275						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGGAGGCCGTTGCTGTCCG	0.682													4	102					0	0	1	0	0	A	77926572	G	A	77926572	2	1	105	1	0	0	0	0	0	0	0	1	15602	1136	40	1		1	TBC1D16	17	77926572	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	22868073	77926572	3268638	18	1822											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													4	92					0	0	1	0	0	G	9090831	A	G	9090831	2	3	105	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-DJ-A3UK-01A-11D-A22D-08		9090831	50038152	19	1823											
ANGPT4	51378	broad.mit.edu	37	chr20	853717	853717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgtcgggagcgtggtaGtagacgccgttgaggtttga	17	5	0	3			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr20:853717G>A	uc002wei.3	-	8	1501	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	ANGPT4_uc010zpn.2_3'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	466	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GAGCGTGGTAGTAGACGCCGT	0.612													3	66					0	0	1	0	0	A	853717	G	A	853717	2	1	105	1	0	0	0	0	0	0	0	1	612	1024	36	2		2	ANGPT4	20	853717	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		853717	62171803	20	1824											
FOXP3	50943	broad.mit.edu	37	chrX	49113414	49113414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcactgggatttgggaaGgtgcagagcagtgccggctc	18	8	0	1			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chrX:49113414G>A	uc011mnb.2	-	3	532	c.510C>T	c.(508-510)acC>acT	p.T170T	FOXP3_uc011mnc.2_Silent_p.T170T|FOXP3_uc004dnf.4_Silent_p.T170T|FOXP3_uc004dne.4_Silent_p.T135T|FOXP3_uc022bwa.1_Silent_p.T120T	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	170					B cell homeostasis|T cell homeostasis|T cell receptor signaling pathway|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of CREB transcription factor activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of T cell anergy|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	DNA bending activity|NF-kappaB binding|NFAT protein binding|chromatin binding|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GATTTGGGAAGGTGCAGAGCA	0.652													3	91					0	0	1	0	0	A	49113414	G	A	49113414	2	1	105	1	0	0	0	0	0	0	0	1	6028	987	35	2		2	FOXP3	23	49113414	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		49113414	106157146	21	1825											
DNAH5	1767	broad.mit.edu	37	chr5	13708384	13708384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttgcattctgtctatttCctgcctgaggaaaatgttca	7	10	3	1			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr5:13708384C>T	uc003jfd.2	-	75	13228	c.13186G>A	c.(13186-13188)Gaa>Aaa	p.E4396K	DNAH5_uc003jfc.2_Missense_Mutation_p.E564K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4396					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTCTATTTCCTGCCTGAGG	0.473									Kartagener syndrome				4	141					0	0	1	0	0	T	13708384	C	T	13708384	3	4	106	1	0	0	0	0	1	0	0	0	4604	864	30	2	704	2	DNAH5	5	13708384	Missense_Mutation	SNP	C	TCGA-DJ-A3UM-01A-11D-A22D-08		13708384	167206876	1	1826											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				29	53					0	0	1	0	0	T	140453136	A	T	140453136	3	4	106	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UM-01A-11D-A22D-08		140453136	18685527	2	1827											
NLRP9	338321	broad.mit.edu	37	chr19	56244558	56244558	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgggaaaaaatgtcttcGatcttctctgaagactccgg	11	9	3	2			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr19:56244558G>A	uc002qly.3	-	1	667	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	213	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAATGTCTTCGATCTTCTCTG	0.443													4	27					0	0	1	0	0	A	56244558	G	A	56244558	2	1	106	1	0	0	0	0	0	0	0	1	10484	1048	37	1		1	NLRP9	19	56244558	Silent	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08		56244558	2884425	3	1828											
ZNF835	90485	broad.mit.edu	37	chr19	57175063	57175063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggagctgggcaaaggcGtcccgaactgtctgcatgcg	16	11	1	0			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr19:57175063G>A	uc010ygn.2	-	1	1731	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.G502G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGCAAAGGCGTCCCGAACTG	0.647													5	190					0	0	1	0	0	A	57175063	G	A	57175063	3	1	106	1	0	0	0	0	1	0	0	0	18183	1145	40	1	111	1	ZNF835	19	57175063	Missense_Mutation	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08	930505	57175063	1953920	4	1829											
RLIM	51132	broad.mit.edu	37	chrX	73811995	73811995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatttaagattctacgaatGggaattctgatggtactgac	10	5	2	3			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chrX:73811995G>A	uc004ebu.3	-	4	1445	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	RLIM_uc004ebw.3_Silent_p.P385P	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	385					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTACGAATGGGAATTCTGA	0.413													4	98					0	0	1	0	0	A	73811995	G	A	73811995	2	1	106	1	0	0	0	0	0	0	0	1	13390	1335	47	2		2	RLIM	23	73811995	Silent	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08		73811995	81458565	5	1830											
FLNA	2316	broad.mit.edu	37	chrX	153590835	153590835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgccagccccccggggcGtgtacttgaccgtgaaggtg	15	13	0	2			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chrX:153590835G>A	uc004fkk.2	-	16	2765	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M	FLNA_uc010nuu.1_Missense_Mutation_p.T839M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	839					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCCGGGGCGTGTACTTGAC	0.592													19	149					0	0	1	0	0	A	153590835	G	A	153590835	3	1	106	1	0	0	0	0	1	0	0	0	5933	1145	40	1	5555	1	FLNA	23	153590835	Missense_Mutation	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08	79778840	153590835	1679725	6	1831											
CSMD2	114784	broad.mit.edu	37	chr1	33985468	33985468	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagggcgatgaaaggcacCaggatcgcggctgccactga	15	10	0	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:33985468C>A	uc001bxm.1	-	68	10857	c.10680G>T	c.(10678-10680)ctG>ctT	p.L3560L	CSMD2_uc001bxn.1_Silent_p.L3416L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3416						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAAAGGCACCAGGATCGCGG	0.597													26	38					0	0	1	0	0	A	33985468	C	A	33985468	2	1	107	1	0	0	0	0	0	0	0	1	3945	581	21	4		4	CSMD2	1	33985468	Silent	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		33985468	215265153	1	1832											
TNN	63923	broad.mit.edu	37	chr1	175046794	175046794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgggggaggccagggaGgaacagaacatcatcttcag	15	10	3	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:175046794G>A	uc001gkl.1	+	1	353	c.240G>A	c.(238-240)gaG>gaA	p.E80E	TNN_uc010pmx.1_Silent_p.E80E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	80					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGCCAGGGAGGAACAGAACA	0.607													3	72					0	0	1	0	0	A	175046794	G	A	175046794	2	1	107	1	0	0	0	0	0	0	0	1	16320	991	35	2		2	TNN	1	175046794	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	141061326	175046794	74203827	2	1833											
OBSCN	84033	broad.mit.edu	37	chr1	228467094	228467094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaccatgaccgggcccGtgcacttcaccgttggcaag	11	16	1	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:228467094G>A	uc009xez.1	+	26	7389	c.7345G>A	c.(7345-7347)Gtg>Atg	p.V2449M	OBSCN_uc001hsn.3_Missense_Mutation_p.V2449M|OBSCN_uc001hsp.1_Missense_Mutation_p.V148M|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2449					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCGGGCCCGTGCACTTCAC	0.697													3	102					0	0	1	0	0	A	228467094	G	A	228467094	3	1	107	1	0	0	0	0	1	0	0	0	10812	1145	40	1	7447	1	OBSCN	1	228467094	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	53420300	228467094	20783527	3	1834											
GFPT1	2673	broad.mit.edu	37	chr2	69597225	69597225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaatctttatcattgcctCcatcaaatcccacacctaaa	1	16	3	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:69597225C>T	uc002sfi.2	-	2	314	c.131G>A	c.(130-132)gGa>gAa	p.G44E	GFPT1_uc002sfh.3_Missense_Mutation_p.G44E	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	44	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATCATTGCCTCCATCAAATCC	0.338													45	74					0	0	1	0	0	T	69597225	C	T	69597225	3	4	107	1	0	0	0	0	1	0	0	0	6345	855	30	2	1982	2	GFPT1	2	69597225	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		69597225	173602148	4	1835											
WDR33	55339	broad.mit.edu	37	chr2	128466403	128466403	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcgttctctgctggctgggGaatgaccgtcgtgaggggga	18	8	1	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:128466403G>C	uc002tpg.2	-	20	3828	c.3629C>G	c.(3628-3630)tCc>tGc	p.S1210C		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1210					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTGGCTGGGGAATGACCGTC	0.557													28	56					0	0	1	0	0	C	128466403	G	C	128466403	3	2	107	1	0	0	0	0	1	0	0	0	17284	1174	41	4	389	4	WDR33	2	128466403	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	58869178	128466403	114732970	5	1836											
SETD5	55209	broad.mit.edu	37	chr3	9512205	9512205	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgactccaacactaacagCtgtgctgatagaccttccct	6	14	0	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:9512205C>G	uc003brt.3	+	18	3222	c.2787C>G	c.(2785-2787)agC>agG	p.S929R	SETD5_uc003bru.3_Missense_Mutation_p.S831R|SETD5_uc003brv.3_Missense_Mutation_p.S818R|SETD5_uc010hck.3_Missense_Mutation_p.S411R|SETD5_uc003brx.3_Missense_Mutation_p.S598R	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	929										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACACTAACAGCTGTGCTGATA	0.493													8	293					0	0	1	0	0	G	9512205	C	G	9512205	3	3	107	1	0	0	0	0	1	0	0	0	14134	796	28	4	2853	4	SETD5	3	9512205	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		9512205	188510225	6	1837											
CDCP1	64866	broad.mit.edu	37	chr3	45153738	45153738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtggcatcgattcggccGctgatggagtgagtgactcc	15	10	0	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:45153738G>A	uc003com.3	-	2	627	c.492C>T	c.(490-492)agC>agT	p.S164S	CDCP1_uc003con.3_Silent_p.S164S	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	164						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGATTCGGCCGCTGATGGAGT	0.562													5	249					0	0	1	0	0	A	45153738	G	A	45153738	2	1	107	1	0	0	0	0	0	0	0	1	3093	1078	38	1		1	CDCP1	3	45153738	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	35641533	45153738	152868692	7	1838											
GMPS	8833	broad.mit.edu	37	chr3	155628609	155628609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcagtggaaccttcaccGtgcagaacagagaacttgag	12	9	1	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:155628609G>A	uc003faq.3	+	5	990	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	GMPS_uc011bom.2_Missense_Mutation_p.V120M	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	219					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AACCTTCACCGTGCAGAACAG	0.393			T	MLL	AML								3	124					0	0	1	0	0	A	155628609	G	A	155628609	3	1	107	1	0	0	0	0	1	0	0	0	6498	1145	40	1	677	1	GMPS	3	155628609	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	110474871	155628609	42393821	8	1839											
IGFBP7	3490	broad.mit.edu	37	chr4	57976131	57976131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcgcagctggcagccGctcgggtaggtggtgccgtc	19	13	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr4:57976131G>A	uc003hcn.3	-	0	421	c.387C>T	c.(385-387)agC>agT	p.S129S	IGFBP7_uc011cag.2_Silent_p.S129S|LOC255130_uc003hco.3_Non-coding_Transcript	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	129	Kazal-like.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGGCAGCCGCTCGGGTAGG	0.721													2	2					0	0	1	0	0	A	57976131	G	A	57976131	2	1	107	1	0	0	0	0	0	0	0	1	7584	1078	38	1		1	IGFBP7	4	57976131	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		57976131	133178145	9	1840											
ENC1	8507	broad.mit.edu	37	chr5	73931990	73931990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgatgatgacccgggaGgagtacgcatagtcaagcag	13	8	2	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:73931990G>A	uc003kdc.4	-	1	1452	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ENC1_uc011css.2_Silent_p.S34S|ENC1_uc021yao.1_Silent_p.S107S	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	107	BTB.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGACCCGGGAGGAGTACGCAT	0.512													3	133					0	0	1	0	0	A	73931990	G	A	73931990	2	1	107	1	0	0	0	0	0	0	0	1	5113	987	35	2		2	ENC1	5	73931990	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		73931990	106983270	10	1841											
FBN2	2201	broad.mit.edu	37	chr5	127654570	127654570	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttagctggtaactgaccataCctgtacagttccctcctgtt	7	12	0	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:127654570C>G	uc003kuu.3	-	35	5033	c.4594_splice	c.e35+1	p.D1532_splice		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1532	EGF-like 26; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTGACCATACCTGTACAGTT	0.383													4	140					0	0	1	0	0	G	127654570	C	G	127654570	5	3	107	1	0	0	0	0	0	0	1	0	5703	521	18	4	4267	4	FBN2	5	127654570	Splice_Site	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	53722580	127654570	53260690	11	1842											
AMD1	262	broad.mit.edu	37	chr6	111210065	111210065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttttcaactgcagtgagaGtagcatgtttgtctccaaga	9	7	2	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr6:111210065G>T	uc003puk.1	+	2	525	c.203G>T	c.(202-204)aGt>aTt	p.S68I	AMD1_uc011eay.1_5'UTR|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Missense_Mutation_p.S39I|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	68		Cleavage (non-hydrolytic); by autolysis.			spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGCAGTGAGAGTAGCATGTTT	0.383													3	128					0	0	1	0	0	T	111210065	G	T	111210065	3	4	107	1	0	0	0	0	1	0	0	0	566	1029	36	4	213	4	AMD1	6	111210065	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		111210065	59905002	12	1843											
TWIST1	7291	broad.mit.edu	37	chr7	19156404	19156404	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaggcgtagctgagccgctCgtgagccacatagctgcagc	14	12	0	2	rs104894058		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:19156404C>A	uc003sum.3	-	0	892	c.541G>T	c.(541-543)Gag>Tag	p.E181*	TWIST1_uc022aah.1_Nonsense_Mutation_p.E181*	NM_000474	NP_000465	Q15672	TWST1_HUMAN	Homo sapiens twist homolog 1 (Drosophila) (TWIST1), mRNA.	181	Sufficient for transactivation activity (By similarity).				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.E181*(2)		lung(2)|upper_aerodigestive_tract(1)	3						CTGAGCCGCTCGTGAGCCACA	0.657													16	26					0	0	1	0	0	A	19156404	C	A	19156404	4	1	107	1	0	0	0	0	0	1	0	0	16780	893	31	4	71	4	TWIST1	7	19156404	Nonsense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		19156404	139982259	13	1844											
DOCK4	9732	broad.mit.edu	37	chr7	111474657	111474657	+	Frame_Shift_Del	DEL	T	T	-													cacttacccttagttcttccTttgtattaaaactatcaaga							TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:111474657delT	uc003vfy.3	-	26	3199	c.2930delA	c.(2929-2931)aagfs	p.K977fs	DOCK4_uc003vfw.3_Frame_Shift_Del_p.K382fs|DOCK4_uc003vfx.3_Frame_Shift_Del_p.K941fs	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	941					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TAGTTCTTCCTTTGTATTAAA	0.313													2	4	---	---	---	---						-	111474657	T	-	111474657	7	5	107	1	0	1	0	1	0	0	0	0	4689	1609	56	0	3186	0	DOCK4	7	111474657	Frame_Shift_Del	DEL	T	TCGA-DJ-A3UN-01A-11D-A22D-08	92318253	111474657	47664006	14	1845											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	72					0	0	1	0	0	T	140453136	A	T	140453136	3	4	107	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08	28978479	140453136	18685527	15	1846											
GIMAP2	26157	broad.mit.edu	37	chr7	150389724	150389724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgactcagctgggccGctatacctcacaggaccagc	11	15	2	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:150389724G>A	uc003who.3	+	2	438	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	117						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCTGGGCCGCTATACCTCA	0.552													3	56					0	0	1	0	0	A	150389724	G	A	150389724	3	1	107	1	0	0	0	0	1	0	0	0	6380	1087	38	1	356	1	GIMAP2	7	150389724	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	9936588	150389724	8748939	16	1847											
CNOT7	29883	broad.mit.edu	37	chr8	17092255	17092255	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagctcttcatgaggtaCttcacatcataaatgacagg	8	9	4	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:17092255C>G	uc003wxf.1	-	4	756	c.588G>C	c.(586-588)aaG>aaC	p.K196N	CNOT7_uc003wxg.1_Missense_Mutation_p.K196N|CNOT7_uc003wxh.1_Missense_Mutation_p.K196N	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	196					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TCATGAGGTACTTCACATCAT	0.413													39	100					0	0	1	0	0	G	17092255	C	G	17092255	3	3	107	1	0	0	0	0	1	0	0	0	3624	564	20	4	287	4	CNOT7	8	17092255	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		17092255	129271767	17	1848											
DOK2	9046	broad.mit.edu	37	chr8	21767190	21767190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcctggccccgaggccGtggagcaggcaccggtgtgg	16	16	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:21767190G>A	uc003wzx.1	-	4	964	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOK2_uc003wzy.1_Missense_Mutation_p.R291W|DOK2_uc003wzz.1_Missense_Mutation_p.R137W|DOK2_uc010lth.1_Missense_Mutation_p.R137W	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	291	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCCCGAGGCCGTGGAGCAGGC	0.677													4	165					0	0	1	0	0	A	21767190	G	A	21767190	3	1	107	1	0	0	0	0	1	0	0	0	4697	1144	40	1	371	1	DOK2	8	21767190	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	4674935	21767190	124596832	18	1849											
ADRA1A	148	broad.mit.edu	37	chr8	26722176	26722176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcacagcacatccactGccgcccagatgttgcagaag	10	14	0	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:26722176G>A	uc003xfc.1	-	0	747	c.311C>T	c.(310-312)gCa>gTa	p.A104V	ADRA1A_uc010lul.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A104V|ADRA1A_uc010lum.1_Missense_Mutation_p.A104V|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfh.1_Missense_Mutation_p.A104V|ADRA1A_uc022atd.1_Missense_Mutation_p.A104V	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	104					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CACATCCACTGCCGCCCAGAT	0.632													46	86					0	0	1	0	0	A	26722176	G	A	26722176	3	1	107	1	0	0	0	0	1	0	0	0	334	1319	46	2	1388	2	ADRA1A	8	26722176	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	4954986	26722176	119641846	19	1850											
PLAG1	5324	broad.mit.edu	37	chr8	57078936	57078936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcctgtgtttgtggggGgagctgggaaacagaagaat	16	4	0	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:57078936G>A	uc003xsq.4	-	2	1820	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	PLAG1_uc003xsr.4_Missense_Mutation_p.P457S|PLAG1_uc010lyi.3_Missense_Mutation_p.P457S|PLAG1_uc010lyj.3_Missense_Mutation_p.P375S|PLAG1_uc022aur.1_Missense_Mutation_p.P375S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	457	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTTTGTGGGGGGAGCTGGGAA	0.478			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								4	189					0	0	1	0	0	A	57078936	G	A	57078936	3	1	107	1	0	0	0	0	1	0	0	0	12018	1232	43	2	137	2	PLAG1	8	57078936	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	30356760	57078936	89285086	20	1851											
EPPK1	83481	broad.mit.edu	37	chr8	144940551	144940551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggatctcgccgcccaccaCgcccgcggccacggcctcct	10	22	1	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:144940551C>A	uc003zaa.1	-	0	6884	c.6871G>T	c.(6871-6873)Gtg>Ttg	p.V2291L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2291						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.V2291M(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCCACCACGCCCGCGGCC	0.721													11	170					0	0	1	0	0	A	144940551	C	A	144940551	3	1	107	1	0	0	0	0	1	0	0	0	5190	536	19	4	395	4	EPPK1	8	144940551	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	87861615	144940551	1423471	21	1852											
SYK	6850	broad.mit.edu	37	chr9	93629413	93629413	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgccgttgtggtttctagActtggtcagcgggtggaata	14	6	2	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr9:93629413A>G	uc004aqz.3	+	7	1052	c.847_splice	c.e7-1	p.T283_splice	SYK_uc004ara.3_Intron|SYK_uc004arb.3_Intron|SYK_uc004arc.3_Splice_Site_p.T283_splice|SYK_uc011ltt.2_Splice_Site|SYK_uc011ltr.2_Splice_Site|SYK_uc011lts.2_Splice_Site	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	283	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGGTTTCTAGACTTGGTCAGC	0.438			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								6	123					0	0	1	0	0	G	93629413	A	G	93629413	5	3	107	1	0	0	0	0	0	0	1	0	15435	289	10	3	869	3	SYK	9	93629413	Splice_Site	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08		93629413	47584018	22	1853											
C10orf47	254427	broad.mit.edu	37	chr10	11908732	11908732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgacttagtgcagccagCacctggcgccggggaagccg	14	14	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:11908732C>T	uc001ikx.3	+	2	495	c.341C>T	c.(340-342)gCa>gTa	p.A114V	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	114										central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GTGCAGCCAGCACCTGGCGCC	0.642													3	83					0	0	1	0	0	T	11908732	C	T	11908732	3	4	107	1	0	0	0	0	1	0	0	0	1605	710	25	2	347	2	C10orf47	10	11908732	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		11908732	123626015	23	1854											
C10orf120	399814	broad.mit.edu	37	chr10	124457437	124457437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttaggcctgcgatggaccGttccggtttctttgcgggga	15	9	1	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:124457437G>A	uc001lgn.3	-	2	852	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	274										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCGATGGACCGTTCCGGTTTC	0.378													4	211					0	0	1	0	0	A	124457437	G	A	124457437	3	1	107	1	0	0	0	0	1	0	0	0	1590	1144	40	1	191	1	C10orf120	10	124457437	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	112548705	124457437	11077310	24	1855											
PITPNM1	9600	broad.mit.edu	37	chr11	67267884	67267884	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgggcccgcagcatcacccGacgcagacctgcaggtgccc	13	17	1	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:67267884G>C	uc001olx.3	-	4	838	c.649C>G	c.(649-651)Cgg>Ggg	p.R217G	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.R217G|PITPNM1_uc001olz.3_Missense_Mutation_p.R217G	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	217					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.R217Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGCATCACCCGACGCAGACCT	0.657													65	112					0	0	1	0	0	C	67267884	G	C	67267884	3	2	107	1	0	0	0	0	1	0	0	0	11950	1057	37	4	3161	4	PITPNM1	11	67267884	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		67267884	67738632	25	1856											
GPR83	10888	broad.mit.edu	37	chr11	94113644	94113644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatgaccttgctggacaGgaggaggacgtagcagttga	17	7	0	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:94113644G>A	uc001pet.2	-	3	1115	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	315						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTGGACAGGAGGAGGACG	0.537													3	169					0	0	1	0	0	A	94113644	G	A	94113644	2	1	107	1	0	0	0	0	0	0	0	1	6713	991	35	2		2	GPR83	11	94113644	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	26845760	94113644	40892872	26	1857											
STAT6	6778	broad.mit.edu	37	chr12	57490363	57490363	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctgggatcaccaacTggggttggcccttaggtcca	12	13	1	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr12:57490363T>A	uc009zpg.3	-	21	2685	c.2683A>T	c.(2683-2685)Agt>Tgt	p.S895C	STAT6_uc009zpe.3_Missense_Mutation_p.S846C|STAT6_uc001sna.3_Missense_Mutation_p.S846C|STAT6_uc009zpf.3_Missense_Mutation_p.S846C|STAT6_uc010srb.2_Missense_Mutation_p.S736C|STAT6_uc010src.2_Missense_Mutation_p.S736C|STAT6_uc010srd.2_Missense_Mutation_p.S736C	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	846					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GATCACCAACTGGGGTTGGCC	0.607													5	292					0	0	1	0	0	A	57490363	T	A	57490363	3	1	107	1	0	0	0	0	1	0	0	0	15269	1580	55	5	11	5	STAT6	12	57490363	Missense_Mutation	SNP	T	TCGA-DJ-A3UN-01A-11D-A22D-08		57490363	76361532	27	1858											
SPG20	23111	broad.mit.edu	37	chr13	36903501	36903501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattactcttttatttacccTttttccacgttttcctttat	1	10	1	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr13:36903501T>C	uc001uvn.3	-	4	1432	c.1162A>G	c.(1162-1164)Agg>Ggg	p.R388G	SPG20_uc010ten.2_Intron|SPG20_uc001uvm.3_Missense_Mutation_p.R388G|SPG20_uc001uvo.3_Missense_Mutation_p.R388G|SPG20_uc001uvq.3_Missense_Mutation_p.R388G|SPG20_uc001uvp.2_Missense_Mutation_p.R388G	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	388					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTATTTACCCTTTTTCCACGT	0.373													3	242					0	0	1	0	0	C	36903501	T	C	36903501	3	2	107	1	0	0	0	0	1	0	0	0	15041	1608	56	3	862	3	SPG20	13	36903501	Missense_Mutation	SNP	T	TCGA-DJ-A3UN-01A-11D-A22D-08		36903501	78266377	28	1859											
MBIP	51562	broad.mit.edu	37	chr14	36789689	36789689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaccagggtgtgtagggAgcgaaagatttcgtagagca	14	7	0	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:36789689A>C	uc001wtm.2	-	0	194	c.106T>G	c.(106-108)Tcc>Gcc	p.S36A	MBIP_uc001wto.2_Missense_Mutation_p.S36A|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.S36A	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	36					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GTGTGTAGGGAGCGAAAGATT	0.577													75	93					0	0	1	0	0	C	36789689	A	C	36789689	3	2	107	1	0	0	0	0	1	0	0	0	9349	304	11	5	964	5	MBIP	14	36789689	Missense_Mutation	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08		36789689	70559851	29	1860											
CLEC14A	161198	broad.mit.edu	37	chr14	38724401	38724401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccttccccagctcgaagCccgtagcacattcgcaggca	9	17	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:38724401C>T	uc001wum.1	-	0	1174	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	276	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGCTCGAAGCCCGTAGCACA	0.667													4	173					0	0	1	0	0	T	38724401	C	T	38724401	3	4	107	1	0	0	0	0	1	0	0	0	3499	739	26	2	649	2	CLEC14A	14	38724401	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	1934712	38724401	68625139	30	1861											
AHNAK2	113146	broad.mit.edu	37	chr14	105411479	105411479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtccacctccacgctggGcagagacacctccacatcag	9	17	1	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:105411479G>A	uc010axc.1	-	6	10429	c.10309C>T	c.(10309-10311)Ccc>Tcc	p.P3437S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3337S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3437						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACGCTGGGCAGAGACACC	0.622													6	355					0	0	1	0	0	A	105411479	G	A	105411479	3	1	107	1	0	0	0	0	1	0	0	0	415	1203	42	2	7082	2	AHNAK2	14	105411479	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	66687078	105411479	1938061	31	1862											
HBZ	3050	broad.mit.edu	37	chr16	202931	202931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctgaccaagactgagaGgaccatcattgtgtccatgt	10	10	2	3			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:202931G>A	uc002cft.1	+	0	78	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_005332	NP_005323	P02008	HBAZ_HUMAN	Homo sapiens hemoglobin, zeta (HBZ), mRNA.	8						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AAGACTGAGAGGACCATCATT	0.632											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	105					0	0	1	0	0	A	202931	G	A	202931	3	1	107	1	0	0	0	0	1	0	0	0	6989	1000	35	2	25	2	HBZ	16	202931	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		202931	90151822	32	1863											
METRN	79006	broad.mit.edu	37	chr16	767142	767142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatcactgtggtggccGcccgtgtcctccgccagaca	11	16	2	1			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:767142G>A	uc002cjd.3	+	3	754	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	AL360260_uc010bra.2_5'Flank	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator (METRN), mRNA.	213										skin(1)	1		Hepatocellular(780;0.00335)				TGTGGTGGCCGCCCGTGTCCT	0.662													3	33					0	0	1	0	0	A	767142	G	A	767142	3	1	107	1	0	0	0	0	1	0	0	0	9488	1087	38	1	651	1	METRN	16	767142	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	564211	767142	89587611	33	1864											
YWHAE	7531	broad.mit.edu	37	chr17	1264494	1264494	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagttctgtcattgcaataTcactagcagctttataagcc	7	9	3	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:1264494T>A	uc002fsj.3	-	3	622	c.470A>T	c.(469-471)gAt>gTt	p.D157V	YWHAE_uc002fsk.3_Missense_Mutation_p.D135V|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Intron	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	157					G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CATTGCAATATCACTAGCAGC	0.463			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						10	256					0	0	1	0	0	A	1264494	T	A	1264494	3	1	107	1	0	0	0	0	1	0	0	0	17499	1435	50	5	309	5	YWHAE	17	1264494	Missense_Mutation	SNP	T	TCGA-DJ-A3UN-01A-11D-A22D-08		1264494	79930716	34	1865											
SUPT6H	6830	broad.mit.edu	37	chr17	27024968	27024968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaagaaggagaagcccacCttcatcccttatttcatctg	6	12	3	2			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:27024968C>T	uc010crt.3	+	32	4560	c.4368C>T	c.(4366-4368)acC>acT	p.T1456T	SUPT6H_uc002hby.3_Silent_p.T1456T	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1456					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGAAGCCCACCTTCATCCCTT	0.522													27	60					0	0	1	0	0	T	27024968	C	T	27024968	2	4	107	1	0	0	0	0	0	0	0	1	15397	668	24	2		2	SUPT6H	17	27024968	Silent	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	25760474	27024968	54170242	35	1866											
TK1	7083	broad.mit.edu	37	chr17	76178724	76178724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagggcctcctgggccacGtctcggagcaggcaggcggg	17	15	1	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:76178724G>T	uc002juw.2	-	3	459	c.249C>A	c.(247-249)gaC>gaA	p.D83E		NM_003258	NP_003249	P04183	KITH_HUMAN	Homo sapiens thymidine kinase 1, soluble (TK1), mRNA.	83					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			CCTGGGCCACGTCTCGGAGCA	0.632													11	10					0	0	1	0	0	T	76178724	G	T	76178724	3	4	107	1	0	0	0	0	1	0	0	0	15929	1136	40	4	471	4	TK1	17	76178724	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	49153756	76178724	5016486	36	1867											
GRIN2D	2906	broad.mit.edu	37	chr19	48917682	48917682	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagtacccgctgtggtcccGctatggtcgcttcctgcagc	11	15	0	0			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr19:48917682G>C	uc002pjc.4	+	4	1341	c.1253G>C	c.(1252-1254)cGc>cCc	p.R418P		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	418						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTGTGGTCCCGCTATGGTCGC	0.627													6	19					0	0	1	0	0	C	48917682	G	C	48917682	3	2	107	1	0	0	0	0	1	0	0	0	6782	1087	38	4	1267	4	GRIN2D	19	48917682	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		48917682	10211301	37	1868											
MX2	4600	broad.mit.edu	37	chr21	42748992	42748992	+	Frame_Shift_Del	DEL	G	G	-													ccaaactggcagggggcagaGaaggacgctgctttcctcgc							TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr21:42748992delG	uc002yzf.1	+	1	263	c.159delG	c.(157-159)gagfs	p.E53fs	MX2_uc011aer.1_Non-coding_Transcript	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	53					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGGGGGCAGAGAAGGACGCTG	0.512													85	157	---	---	---	---						-	42748992	G	-	42748992	7	5	107	1	0	1	0	1	0	0	0	0	9998	933	33	0	161	0	MX2	21	42748992	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UN-01A-11D-A22D-08		42748992	5380903	38	1869											
MAGEB4	4115	broad.mit.edu	37	chrX	30261042	30261042	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagcaggtgcccaacagtGatcccccacgctatcaattc	7	16	1	1	rs148704670		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chrX:30261042G>A	uc004dcb.3	+	0	986	c.790G>A	c.(790-792)Gat>Aat	p.D264N	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	264	MAGE.							p.S263R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCCCAACAGTGATCCCCCACG	0.502													3	70					0	0	1	0	0	A	30261042	G	A	30261042	3	1	107	1	0	0	0	0	1	0	0	0	9178	1290	45	2	792	2	MAGEB4	23	30261042	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		30261042	125009518	39	1870											
ETNK2	55224	broad.mit.edu	37	chr1	204115853	204115853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcaggctgccgttggcGtggatagtatgaatctttgc	15	7	1	1	rs139650333		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr1:204115853G>A	uc001han.4	-	2	885	c.558C>T	c.(556-558)caC>caT	p.H186H	ETNK2_uc010pqr.2_Silent_p.H8H|ETNK2_uc001hao.4_Silent_p.H186H|ETNK2_uc010pqs.2_Intron|ETNK2_uc010pqt.2_Silent_p.H8H			Q9NVF9	EKI2_HUMAN	Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.	186							ATP binding|choline kinase activity|ethanolamine kinase activity	p.H186H(2)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCGTTGGCGTGGATAGTAT	0.498													4	114					0	0	1	0	0	A	204115853	G	A	204115853	2	1	108	1	0	0	0	0	0	0	0	1	5274	1136	40	1		1	ETNK2	1	204115853	Silent	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08		204115853	45134768	1	1871											
LRP2	4036	broad.mit.edu	37	chr2	169995788	169995788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgggcagagcaggcaaaAgggagccggtccttctatag	15	9	1	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:169995788A>G	uc002ues.3	-	73	13574	c.13361T>C	c.(13360-13362)cTt>cCt	p.L4454P		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4454					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCAGGCAAAAGGGAGCCGGT	0.468													4	90					0	0	1	0	0	G	169995788	A	G	169995788	3	3	108	1	0	0	0	0	1	0	0	0	8956	72	3	3	630	3	LRP2	2	169995788	Missense_Mutation	SNP	A	TCGA-DJ-A3UO-01A-11D-A22D-08		169995788	73203585	2	1872											
ZNF142	7701	broad.mit.edu	37	chr2	219503377	219503377	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctcactgtgcttgcgaagGtgggtgcgcagcaggaagcg	17	10	1	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:219503377G>C	uc002vin.3	-	9	5185	c.4749C>G	c.(4747-4749)caC>caG	p.H1583Q	ZNF142_uc002vil.3_Missense_Mutation_p.H1544Q|ZNF142_uc010fvt.3_Missense_Mutation_p.H1420Q|ZNF142_uc002vim.3_Missense_Mutation_p.H1420Q	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTTGCGAAGGTGGGTGCGCA	0.622													28	61					0	0	1	0	0	C	219503377	G	C	219503377	3	2	108	1	0	0	0	0	1	0	0	0	17728	1252	44	4	318	4	ZNF142	2	219503377	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	49507589	219503377	23695996	3	1873											
ECEL1	9427	broad.mit.edu	37	chr2	233348844	233348844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgccctccatctcctgtGccagctcgtgcagtgcctca	9	18	2	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:233348844G>A	uc002vsv.2	-	6	1479	c.1274C>T	c.(1273-1275)gCa>gTa	p.A425V	ECEL1_uc010fya.1_Missense_Mutation_p.A425V|ECEL1_uc010fyb.1_Missense_Mutation_p.A132V	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	425					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CATCTCCTGTGCCAGCTCGTG	0.647													42	67					0	0	1	0	0	A	233348844	G	A	233348844	3	1	108	1	0	0	0	0	1	0	0	0	4891	1319	46	2	1101	2	ECEL1	2	233348844	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	13845467	233348844	9850529	4	1874											
ENPP6	133121	broad.mit.edu	37	chr4	185012454	185012454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatccgttgttgggcagcGgggtgatgcccaccacattg	15	10	0	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr4:185012454G>A	uc003iwc.3	-	7	1341	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	400					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTGGGCAGCGGGGTGATGCC	0.587													61	130					0	0	1	0	0	A	185012454	G	A	185012454	3	1	108	1	0	0	0	0	1	0	0	0	5134	1116	39	1	127	1	ENPP6	4	185012454	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08		185012454	6141822	5	1875											
TAPBP	6892	broad.mit.edu	37	chr6	33272093	33272093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctacctccagggtgacCtcagcgctgcgccccgaggc	12	18	1	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:33272093C>T	uc003odz.3	-	4	1537	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	TAPBP_uc003odx.2_Silent_p.E397E|TAPBP_uc010jut.2_Silent_p.E310E|TAPBP_uc003ody.3_3'UTR|TAPBP_uc011drc.2_Silent_p.E397E	NM_172208	NP_757345	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 2, mRNA.	397	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CCAGGGTGACCTCAGCGCTGC	0.642													52	88					0	0	1	0	0	T	33272093	C	T	33272093	2	4	108	1	0	0	0	0	0	0	0	1	15549	680	24	2		2	TAPBP	6	33272093	Silent	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		33272093	137842974	6	1876											
SLC22A16	85413	broad.mit.edu	37	chr6	110746110	110746110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaatccctgggggtaatcGcttccgttttttccagccca	9	13	0	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:110746110G>C	uc003puf.3	-	7	1767	c.1700C>G	c.(1699-1701)gCg>gGg	p.A567G	SLC22A16_uc003pue.3_Missense_Mutation_p.A548G	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	567					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.A567A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GGGGGTAATCGCTTCCGTTTT	0.423													78	113					0	0	1	0	0	C	110746110	G	C	110746110	3	2	108	1	0	0	0	0	1	0	0	0	14447	1087	38	4	37	4	SLC22A16	6	110746110	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	77474017	110746110	60368957	7	1877											
SAMD5	389432	broad.mit.edu	37	chr6	147830172	147830172	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggaggtgtgcaagcagatCggggacccggacctggatgc	17	10	0	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:147830172C>A	uc003qmc.2	+	0	345	c.108C>A	c.(106-108)atC>atA	p.I36I		NM_001030060	NP_001025231	Q5TGI4	SAMD5_HUMAN	Homo sapiens sterile alpha motif domain containing 5 (SAMD5), mRNA.	36	SAM.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GCAAGCAGATCGGGGACCCGG	0.667													11	70					0	0	1	0	0	A	147830172	C	A	147830172	2	1	108	1	0	0	0	0	0	0	0	1	13823	874	31	4		4	SAMD5	6	147830172	Silent	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	37084062	147830172	23284895	8	1878											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	43					0	0	1	0	0	T	140453136	A	T	140453136	3	4	108	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UO-01A-11D-A22D-08		140453136	18685527	9	1879											
FAM55B	120406	broad.mit.edu	37	chr11	114569205	114569205	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agggccaggtttccctgtctCtgctgctcatccaccccagt	9	16	2	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr11:114569205C>G	uc009yyy.2	+	2	669	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	191						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						TTCCCTGTCTCTGCTGCTCAT	0.537													3	47					0	0	1	0	0	G	114569205	C	G	114569205	3	3	108	1	0	0	0	0	1	0	0	0	5585	912	32	4	581	4	FAM55B	11	114569205	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		114569205	20437311	10	1880											
KCNA5	3741	broad.mit.edu	37	chr12	5154100	5154100	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttggttatcctcatcTccatcatcaccttctgcttg	6	14	6	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr12:5154100T>G	uc001qni.3	+	0	1016	c.787T>G	c.(787-789)Tcc>Gcc	p.S263A		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	263						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TATCCTCATCTCCATCATCAC	0.642													35	258					0	0	1	0	0	G	5154100	T	G	5154100	3	3	108	1	0	0	0	0	1	0	0	0	8006	1551	54	5	789	5	KCNA5	12	5154100	Missense_Mutation	SNP	T	TCGA-DJ-A3UO-01A-11D-A22D-08		5154100	128697795	11	1881											
ZNF263	10127	broad.mit.edu	37	chr16	3339612	3339612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagagaactggggcgacCgaaggaactgcagccaaaga	15	9	0	2			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr16:3339612C>T	uc002cuq.3	+	5	1438	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L	ZNF263_uc010uww.2_Missense_Mutation_p.P17L|ZNF263_uc002cur.2_Missense_Mutation_p.P17L	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	369					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGGGGCGACCGAAGGAACTG	0.532													33	37					0	0	1	0	0	T	3339612	C	T	3339612	3	4	108	1	0	0	0	0	1	0	0	0	17800	652	23	1	1128	1	ZNF263	16	3339612	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		3339612	87015141	12	1882											
OR3A3	8392	broad.mit.edu	37	chr17	3324444	3324444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctcccacagctcttcCagctctcctgctccagcacc	6	20	2	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:3324444C>A	uc010vrd.2	+	0	583	c.583C>A	c.(583-585)Cag>Aag	p.Q195K		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ACAGCTCTTCCAGCTCTCCTG	0.552													56	90					0	0	1	0	0	A	3324444	C	A	3324444	3	1	108	1	0	0	0	0	1	0	0	0	11039	595	21	4	585	4	OR3A3	17	3324444	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		3324444	77870766	13	1883											
ALOX12	239	broad.mit.edu	37	chr17	6908626	6908626	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaatcaacacccgggcccgGacccaactcatctcagatgg	9	15	3	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:6908626G>T	uc002gdx.4	+	8	1265	c.1212G>T	c.(1210-1212)cgG>cgT	p.R404R	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	404	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCCGGGCCCGGACCCAACTCA	0.552											OREG0024126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	534					0	0	1	0	0	T	6908626	G	T	6908626	2	4	108	1	0	0	0	0	0	0	0	1	536	1161	41	4		4	ALOX12	17	6908626	Silent	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	3584182	6908626	74286584	14	1884											
KRBA2	124751	broad.mit.edu	37	chr17	8273458	8273458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacatcatattttgctgcaCggcgataatcacgtgatgac	8	10	3	2	rs139656920	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:8273458C>A	uc002glf.1	-	1	479	c.473G>T	c.(472-474)cGt>cTt	p.R158L	KRBA2_uc002glg.1_Missense_Mutation_p.R75L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	158					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TTTTGCTGCACGGCGATAATC	0.378													35	204					0	0	1	0	0	A	8273458	C	A	8273458	3	1	108	1	0	0	0	0	1	0	0	0	8440	536	19	4	1009	4	KRBA2	17	8273458	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	1364832	8273458	72921752	15	1885											
ACLY	47	broad.mit.edu	37	chr17	40024146	40024146	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcttcagcctcttctgatCaagatagtgtcctaaaatga	7	10	4	3			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:40024146C>A	uc002hyi.3	-	28	3390	c.3385G>T	c.(3385-3387)Gat>Tat	p.D1129Y	KLHL11_uc002hyf.1_5'Flank|ACLY_uc002hyg.3_Missense_Mutation_p.D1075Y|ACLY_uc002hyh.3_Missense_Mutation_p.D1065Y|ACLY_uc010wfx.2_Missense_Mutation_p.D1119Y|ACLY_uc010wfy.2_Missense_Mutation_p.D804Y	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	1075					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTCTTCTGATCAAGATAGTGT	0.433													3	89					0	0	1	0	0	A	40024146	C	A	40024146	3	1	108	1	0	0	0	0	1	0	0	0	143	826	29	4	86	4	ACLY	17	40024146	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	31750688	40024146	41171064	16	1886											
EFTUD2	9343	broad.mit.edu	37	chr17	42941058	42941058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcatagcctcgccgaggtCggagtccacaccaccggtgt	11	15	1	0			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:42941058C>T	uc002ihn.2	-	14	1639	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EFTUD2_uc010wje.1_Missense_Mutation_p.D425N|EFTUD2_uc010wjf.1_Missense_Mutation_p.D450N	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	460						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCGCCGAGGTCGGAGTCCACA	0.552													4	141					0	0	1	0	0	T	42941058	C	T	42941058	3	4	108	1	0	0	0	0	1	0	0	0	4961	884	31	1	1596	1	EFTUD2	17	42941058	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	2916912	42941058	38254152	17	1887											
CCDC40	55036	broad.mit.edu	37	chr17	78073390	78073390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctgtgaaggaggggcGctacgtgttcctgttccgct	16	10	0	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:78073390G>A	uc010dht.3	+	19	3276	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H	CCDC40_uc002jxm.4_Missense_Mutation_p.R865H|CCDC40_uc002jxn.4_Missense_Mutation_p.R478H|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1082					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGAGGGGCGCTACGTGTTC	0.602													3	67					0	0	1	0	0	A	78073390	G	A	78073390	3	1	108	1	0	0	0	0	1	0	0	0	2812	1087	38	1	3323	1	CCDC40	17	78073390	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	35132332	78073390	3121820	18	1888											
ILF3	3609	broad.mit.edu	37	chr19	10789305	10789305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaaacgctatcagtcaaCgaccccccggacgttctgga	9	13	3	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr19:10789305C>T	uc002mpo.3	+	5	893	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc002mpn.3_Silent_p.N192N|ILF3_uc002mpp.3_Silent_p.N13N	NM_017620	NP_060090	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 4, mRNA.	192	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATCAGTCAACGACCCCCCGG	0.502													4	154					0	0	1	0	0	T	10789305	C	T	10789305	2	4	108	1	0	0	0	0	0	0	0	1	7712	535	19	1		1	ILF3	19	10789305	Silent	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		10789305	48339678	19	1889											
FIGF	2277	broad.mit.edu	37	chrX	15365368	15365368	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagcaactgcagttttTggggtgctggattagatctt	11	7	2	1			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chrX:15365368T>G	uc004cwt.2	-	5	1323	c.856A>C	c.(856-858)Aaa>Caa	p.K286Q	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	286	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CTGCAGTTTTTGGGGTGCTGG	0.488													3	82					0	0	1	0	0	G	15365368	T	G	15365368	3	3	108	1	0	0	0	0	1	0	0	0	5889	1821	63	5	216	5	FIGF	23	15365368	Missense_Mutation	SNP	T	TCGA-DJ-A3UO-01A-11D-A22D-08		15365368	139905192	20	1890											
SDC3	9672	broad.mit.edu	37	chr1	31349713	31349713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggggtgctgggggtggCggtggccactgtggcaggca	22	8	0	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:31349713C>T	uc001bse.2	-	2	603	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	SDC3_uc001bsd.2_Missense_Mutation_p.A128T	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	186	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGGTGGCGGTGGCCACT	0.637													16	24					0	0	1	0	0	T	31349713	C	T	31349713	3	4	109	1	0	0	0	0	1	0	0	0	13953	768	27	1	784	1	SDC3	1	31349713	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08		31349713	217900908	1	1891											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			88	140					0	0	1	0	0	C	115256529	T	C	115256529	3	2	109	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A3UP-01A-11D-A22D-08	83906816	115256529	133994092	2	1892											
PUM2	23369	broad.mit.edu	37	chr2	20478389	20478389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgatgaaagtgatggcgGtggcgtaagtgaatgtcctg	16	4	0	4			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:20478389G>A	uc002rds.1	-	11	1930	c.1912C>T	c.(1912-1914)Ccg>Tcg	p.P638S	PUM2_uc002rdq.1_Missense_Mutation_p.P15S|PUM2_uc002rdt.1_Missense_Mutation_p.P638S|PUM2_uc002rdr.2_Intron|PUM2_uc010yjy.1_Intron|PUM2_uc002rdu.1_Missense_Mutation_p.P638S|PUM2_uc010yjz.1_Missense_Mutation_p.P577S	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	638	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGATGGCGGTGGCGTAAGT	0.413													3	75					0	0	1	0	0	A	20478389	G	A	20478389	3	1	109	1	0	0	0	0	1	0	0	0	12826	1261	44	2	1318	2	PUM2	2	20478389	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		20478389	222720984	3	1893											
BAZ2B	29994	broad.mit.edu	37	chr2	160240182	160240182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatataatcaatgttcttGtcgatttcactgccaatgca	6	9	3	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:160240182G>A	uc002uao.3	-	23	4101	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	BAZ2B_uc002uap.3_Silent_p.D1196D	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAATGTTCTTGTCGATTTCAC	0.289													13	16					0	0	1	0	0	A	160240182	G	A	160240182	2	1	109	1	0	0	0	0	0	0	0	1	1332	1368	48	2		2	BAZ2B	2	160240182	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	139761793	160240182	82959191	4	1894											
XRCC5	7520	broad.mit.edu	37	chr2	216990723	216990723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgactgaccattggctccaAtttgtctataaggattgcag	9	10	1	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:216990723A>G	uc002vfy.3	+	6	907	c.767A>G	c.(766-768)aAt>aGt	p.N256S	XRCC5_uc002vfz.3_Missense_Mutation_p.N142S	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	256	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATTGGCTCCAATTTGTCTATA	0.388								Non-homologous end-joining					4	111					0	0	1	0	0	G	216990723	A	G	216990723	3	3	109	1	0	0	0	0	1	0	0	0	17453	101	4	3	793	3	XRCC5	2	216990723	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08	56750541	216990723	26208650	5	1895											
SLCO2A1	6578	broad.mit.edu	37	chr3	133667435	133667435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcttctccaggaacttGttgaggaaggtggagaggcc	14	8	1	2			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:133667435G>A	uc003eqa.4	-	7	1324	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	SLCO2A1_uc011blv.2_Silent_p.N169N	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	350					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CCAGGAACTTGTTGAGGAAGG	0.587													6	225					0	0	1	0	0	A	133667435	G	A	133667435	2	1	109	1	0	0	0	0	0	0	0	1	14726	1368	48	2		2	SLCO2A1	3	133667435	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		133667435	64354995	6	1896											
OPA1	4976	broad.mit.edu	37	chr3	193375008	193375008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaagtggaatgactttgCggaggacagcttggtatgtt	13	6	0	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:193375008C>T	uc003ftg.3	+	22	2552	c.2318C>T	c.(2317-2319)gCg>gTg	p.A773V	OPA1_uc003fth.3_Missense_Mutation_p.A737V|OPA1_uc003fti.3_Missense_Mutation_p.A755V|OPA1_uc003ftj.3_Missense_Mutation_p.A736V|OPA1_uc003ftk.3_Missense_Mutation_p.A719V|OPA1_uc003ftl.3_Missense_Mutation_p.A700V|OPA1_uc003ftm.3_Missense_Mutation_p.A718V|OPA1_uc003ftn.3_Missense_Mutation_p.A682V	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	718					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGACTTTGCGGAGGACAGC	0.353													3	124					0	0	1	0	0	T	193375008	C	T	193375008	3	4	109	1	0	0	0	0	1	0	0	0	10871	768	27	1	2408	1	OPA1	3	193375008	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	59707573	193375008	4647422	7	1897											
MFSD7	84179	broad.mit.edu	37	chr4	675823	675823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggacgcttggaccctgCctgcgagtctgccggggcgg	16	14	1	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:675823C>T	uc003gay.3	-	9	1664	c.1607G>A	c.(1606-1608)gGc>gAc	p.G536D	MFSD7_uc003gaw.3_Missense_Mutation_p.G278D|MFSD7_uc003gax.3_Missense_Mutation_p.G535D|MFSD7_uc003gaz.3_Missense_Mutation_p.G417D	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	536					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TTGGACCCTGCCTGCGAGTCT	0.692													3	27					0	0	1	0	0	T	675823	C	T	675823	3	4	109	1	0	0	0	0	1	0	0	0	9537	739	26	2	79	2	MFSD7	4	675823	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08		675823	190478453	8	1898											
PPARGC1A	10891	broad.mit.edu	37	chr4	23833344	23833345	+	Missense_Mutation	DNP	GC	GC	TG													tgtctctgtgaggactgctaGcaagtttgcctcattctctt							TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:23833344_23833345GC>TG	uc003gqs.3	-	2	384_385	c.264_265GC>CA	c.(262-267)ttgcta>ttCAta	p.88_89LL>FI	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	88					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGGACTGCTAGCAAGTTTGCCT	0.465													14	343					0	0	1	0	0	TG	23833345	GC	TG	23833344	3	4	109	1	0	0	0	0	1	0	0	0	12300	962	34	4	2175	4	PPARGC1A	4	23833344	Missense_Mutation	DNP	GC	TCGA-DJ-A3UP-01A-11D-A22D-08	23157521	23833344	167320932	9	1899											
GIGYF1	64599	broad.mit.edu	37	chr7	100284337	100284337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagcctccagctgcccTcctcctcctcctcctgttcc	5	23	0	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:100284337T>C	uc003uwg.1	-	6	1638	c.629A>G	c.(628-630)gAg>gGg	p.E210G		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	210	Poly-Glu.							p.E210delE(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCAGCTGCcctcctcctcctc	0.701													3	63					0	0	1	0	0	C	100284337	T	C	100284337	3	2	109	1	0	0	0	0	1	0	0	0	6377	1551	54	3	2550	3	GIGYF1	7	100284337	Missense_Mutation	SNP	T	TCGA-DJ-A3UP-01A-11D-A22D-08		100284337	58854326	10	1900											
VIPR2	7434	broad.mit.edu	37	chr7	158935229	158935229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcggcattctgggtgaatGctgttcacctgttcacggtt	11	9	3	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:158935229G>A	uc003woh.3	-	1	246	c.60C>T	c.(58-60)agC>agT	p.S20S	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	20					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTGGGTGAATGCTGTTCACCT	0.373													8	123					0	0	1	0	0	A	158935229	G	A	158935229	2	1	109	1	0	0	0	0	0	0	0	1	17167	1310	46	2		2	VIPR2	7	158935229	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	58650892	158935229	203434	11	1901											
DERL1	79139	broad.mit.edu	37	chr8	124033740	124033740	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagggtaaatagcaggcCtaggatggaatgaatatatg	12	6	0	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr8:124033740C>T	uc003ypl.2	-	6	740	c.454_splice	c.e6-1	p.A152_splice	DERL1_uc003ypm.2_Splice_Site_p.A152_splice|DERL1_uc011lif.1_Splice_Site_p.A52_splice|DERL1_uc003ypn.2_Splice_Site_p.A152_splice	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.	152					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATAGCAGGCCTAGGATGGAA	0.413													3	142					0	0	1	0	0	T	124033740	C	T	124033740	5	4	109	1	0	0	0	0	0	0	1	0	4446	695	24	2	314	2	DERL1	8	124033740	Splice_Site	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08		124033740	22330282	12	1902											
KIAA1432	57589	broad.mit.edu	37	chr9	5754856	5754856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaggagcaaaatatgatcGtgacaggtggcttagcctgg	13	6	0	2			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr9:5754856G>A	uc003zjl.4	+	13	1698	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M	KIAA1432_uc003zjh.3_Missense_Mutation_p.V461M|KIAA1432_uc003zji.3_Missense_Mutation_p.V461M|KIAA1432_uc003zjj.1_Missense_Mutation_p.V3M	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	540						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AAATATGATCGTGACAGGTGG	0.299													3	84					0	0	1	0	0	A	5754856	G	A	5754856	3	1	109	1	0	0	0	0	1	0	0	0	8233	1145	40	1	1435	1	KIAA1432	9	5754856	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		5754856	135458575	13	1903											
MUC5B	727897	broad.mit.edu	37	chr11	1269764	1269764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcccagggacggcacGcacgcctccagtgtggatca	12	16	1	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:1269764G>A	uc001lta.3	+	30	11713	c.11654G>A	c.(11653-11655)cGc>cAc	p.R3885H		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3885	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACGCACGCCTCCA	0.652													4	198					0	0	1	0	0	A	1269764	G	A	1269764	3	1	109	1	0	0	0	0	1	0	0	0	9979	1087	38	1	11785	1	MUC5B	11	1269764	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		1269764	133736752	14	1904											
CTR9	9646	broad.mit.edu	37	chr11	10789616	10789620	+	Splice_Site	DEL	TATAG	TATAG	-													tttttaagagcacttgtttcTataggaaaagcgtcatcaag							TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:10789616_10789620delTATAG	uc001mja.3	+	15	2022	c.1873_splice	c.e15-1	p.E625_splice		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	625					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CACTTGTTTCTATAGGAAAAGCGTC	0.38													27	59	---	---	---	---						-	10789620	TATAG	-	10789616	8	5	109	1	0	1	0	1	0	0	1	0	4024	1537	53	0		0	CTR9	11	10789616	Splice_Site	DEL	TATAG	TCGA-DJ-A3UP-01A-11D-A22D-08	9519852	10789616	124216900	15	1905											
NPAS4	266743	broad.mit.edu	37	chr11	66191839	66191839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggccagttgactgaaacctCggtcagaagctatgaagacc	11	10	1	5			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:66191839C>T	uc001ohx.1	+	6	1654	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	NPAS4_uc010rpc.1_Missense_Mutation_p.S283L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	493					transcription, DNA-dependent		DNA binding|signal transducer activity	p.S493L(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACTGAAACCTCGGTCAGAAGC	0.577													16	499					0	0	1	0	0	T	66191839	C	T	66191839	3	4	109	1	0	0	0	0	1	0	0	0	10565	893	31	1	1504	1	NPAS4	11	66191839	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	55402223	66191839	68814677	16	1906											
ANKRD13D	338692	broad.mit.edu	37	chr11	67069034	67069034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtgctgggcatggagcGcaacgagcccctccgggacg	16	14	0	0	rs141392969		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:67069034G>A	uc001okd.2	+	12	1594	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	ANKRD13D_uc001okc.2_Missense_Mutation_p.R388H|ANKRD13D_uc001oke.2_Missense_Mutation_p.R388H|ANKRD13D_uc001okg.2_Missense_Mutation_p.R171H|ANKRD13D_uc001okh.2_Missense_Mutation_p.R171H|ANKRD13D_uc001oki.2_Missense_Mutation_p.R125H|SSH3_uc001okj.3_5'Flank|SSH3_uc001okk.3_5'Flank|SSH3_uc001okl.3_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA.	388										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCATGGAGCGCAACGAGCCC	0.662													3	131					0	0	1	0	0	A	67069034	G	A	67069034	3	1	109	1	0	0	0	0	1	0	0	0	644	1087	38	1	1474	1	ANKRD13D	11	67069034	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	877195	67069034	67937482	17	1907											
GALNT8	26290	broad.mit.edu	37	chr12	4873152	4873152	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaaaatgtctgcttggAtcagggacccgttccaggca	13	9	2	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr12:4873152A>T	uc001qne.1	+	8	1624	c.1532A>T	c.(1531-1533)gAt>gTt	p.D511V		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	511	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTCTGCTTGGATCAGGGACCC	0.502													9	109					0	0	1	0	0	T	4873152	A	T	4873152	3	4	109	1	0	0	0	0	1	0	0	0	6219	333	12	5	1566	5	GALNT8	12	4873152	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08		4873152	128978743	18	1908											
LRP1	4035	broad.mit.edu	37	chr12	57559912	57559912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaagtgcgagaacaaccGgtgcatccccaaccgctggc	10	14	1	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr12:57559912G>A	uc001snd.3	+	16	3183	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q	LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	906	LDL-receptor class A 4.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGAACAACCGGTGCATCCCC	0.597													3	118					0	0	1	0	0	A	57559912	G	A	57559912	3	1	109	1	0	0	0	0	1	0	0	0	8951	1116	39	1	2783	1	LRP1	12	57559912	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	52686760	57559912	76291983	19	1909											
TPTE2	93492	broad.mit.edu	37	chr13	20000569	20000569	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttgtgattactcaccgaaGagaaaaactgcactttcaca	6	9	2	2			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr13:20000569G>T	uc001umd.3	-	18	1602	c.1391C>A	c.(1390-1392)tCt>tAt	p.S464Y	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Missense_Mutation_p.S353Y|TPTE2_uc001ume.3_Missense_Mutation_p.S387Y|TPTE2_uc009zzm.3_Missense_Mutation_p.S135Y|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.S135Y	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	464	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTCACCGAAGAGAAAAACTG	0.363													6	149					0	0	1	0	0	T	20000569	G	T	20000569	3	4	109	1	0	0	0	0	1	0	0	0	16428	942	33	4	189	4	TPTE2	13	20000569	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		20000569	95169309	20	1910											
DACH1	1602	broad.mit.edu	37	chr13	72147128	72147128	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggtggggcatcatcatAaaaggaagttccagtcctat	12	7	2	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr13:72147128A>C	uc021rkj.1	-	3	1572	c.1149T>G	c.(1147-1149)ttT>ttG	p.F383L	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	433	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCATCATCATAAAAGGAAGTT	0.398													35	31					0	0	1	0	0	C	72147128	A	C	72147128	3	2	109	1	0	0	0	0	1	0	0	0	4220	359	13	5	1009	5	DACH1	13	72147128	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08	52146559	72147128	43022750	21	1911											
IGDCC4	57722	broad.mit.edu	37	chr15	65684514	65684514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcactttcttcttgagccGgacaggccccacatcccaag	7	16	3	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr15:65684514G>A	uc002aou.1	-	10	2290	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	IGDCC4_uc002aot.1_Missense_Mutation_p.R282W	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	694	Fibronectin type-III 3.					integral to membrane|plasma membrane		p.R694R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCTTGAGCCGGACAGGCCCC	0.627													3	121					0	0	1	0	0	A	65684514	G	A	65684514	3	1	109	1	0	0	0	0	1	0	0	0	7569	1115	39	1	1712	1	IGDCC4	15	65684514	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		65684514	36846878	22	1912											
IRX3	79191	broad.mit.edu	37	chr16	54318498	54318498	+	Frame_Shift_Del	DEL	G	G	-													gaagtcccagcaggtgcggaGgggcagagcccagcagggag							TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr16:54318498delG	uc002eht.1	-	1	1711	c.1295delC	c.(1294-1296)cctfs	p.P432fs		NM_024336	NP_077312	P78415	IRX3_HUMAN	Homo sapiens iroquois homeobox 3 (IRX3), mRNA.	432	Pro-rich.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CAGGTGCGGAGGGGCAGAGCC	0.751													2	4	---	---	---	---						-	54318498	G	-	54318498	7	5	109	1	0	1	0	1	0	0	0	0	7845	1000	35	0	222	0	IRX3	16	54318498	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UP-01A-11D-A22D-08		54318498	36036255	23	1913											
DUS2L	54920	broad.mit.edu	37	chr16	68100529	68100529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcattgctgccatcgcaGttcatgggaggtgagtggtc	15	9	1	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr16:68100529G>A	uc002evi.3	+	9	693	c.544G>A	c.(544-546)Gtt>Att	p.V182I	DUS2L_uc002evj.3_Missense_Mutation_p.V182I|DUS2L_uc010vkk.2_Missense_Mutation_p.V147I	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.	182					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TGCCATCGCAGTTCATGGGAG	0.522													8	272					0	0	1	0	0	A	68100529	G	A	68100529	3	1	109	1	0	0	0	0	1	0	0	0	4806	1029	36	2	574	2	DUS2L	16	68100529	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	13782031	68100529	22254224	24	1914											
DGKE	8526	broad.mit.edu	37	chr17	54926136	54926136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaatacattgggttgggGtacaggttatgctggagaaa	13	5	0	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr17:54926136G>A	uc002iur.3	+	5	1148	c.968G>A	c.(967-969)gGt>gAt	p.G323D	DGKE_uc002ius.1_Missense_Mutation_p.G323D	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	323	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGGGTTGGGGTACAGGTTAT	0.413													3	137					0	0	1	0	0	A	54926136	G	A	54926136	3	1	109	1	0	0	0	0	1	0	0	0	4468	1261	44	2	986	2	DGKE	17	54926136	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		54926136	26269074	25	1915											
ELAVL1	1994	broad.mit.edu	37	chr19	8028430	8028430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcccccaggcggtagccGttcaggctggctatggccat	13	13	1	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:8028430G>A	uc002mjb.3	-	5	1085	c.918C>T	c.(916-918)aaC>aaT	p.N306N		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	306	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGCGGTAGCCGTTCAGGCTGG	0.453													3	106					0	0	1	0	0	A	8028430	G	A	8028430	2	1	109	1	0	0	0	0	0	0	0	1	5049	1136	40	1		1	ELAVL1	19	8028430	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		8028430	51100553	26	1916											
CRTC1	23373	broad.mit.edu	37	chr19	18870826	18870826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttttcccagcatcttccCgtctgccgaccaggaaaaca	7	16	2	0			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:18870826C>T	uc010ebv.3	+	8	810	c.722C>T	c.(721-723)cCg>cTg	p.P241L	CRTC1_uc002nkb.4_Missense_Mutation_p.P225L|CRTC1_uc010ebw.3_Missense_Mutation_p.P90L	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	225					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCATCTTCCCGTCTGCCGAC	0.672													5	291					0	0	1	0	0	T	18870826	C	T	18870826	3	4	109	1	0	0	0	0	1	0	0	0	3899	652	23	1	756	1	CRTC1	19	18870826	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	10842396	18870826	40258157	27	1917											
PRMT1	3276	broad.mit.edu	37	chr19	50180555	50180555	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagatggcggcagccgaggcCgcgaactgcatcatggaggt	16	10	1	1			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:50180555C>G	uc010enf.2	+	0	147	c.18C>G	c.(16-18)gcC>gcG	p.A6A	PRMT1_uc021uxu.1_5'UTR|PRMT1_uc002ppe.3_Silent_p.A6A|PRMT1_uc021uxv.1_Silent_p.A6A|PRMT1_uc010yba.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.	5						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CAGCCGAGGCCGCGAACTGCA	0.667													23	37					0	0	1	0	0	G	50180555	C	G	50180555	2	3	109	1	0	0	0	0	0	0	0	1	12535	639	23	4		4	PRMT1	19	50180555	Silent	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	31309729	50180555	8948428	28	1918											
KHDRBS1	10657	broad.mit.edu	37	chr1	32498905	32498905	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgctcttatggcccatgcCatggaggaagtcaagaaatt	10	8	2	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:32498905C>A	uc001bub.3	+	3	847	c.741C>A	c.(739-741)gcC>gcA	p.A247A	KHDRBS1_uc001bua.1_Silent_p.A208A|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	247					G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGCCCATGCCATGGAGGAAG	0.448													3	65					0	0	1	0	0	A	32498905	C	A	32498905	2	1	110	1	0	0	0	0	0	0	0	1	8146	581	21	4		4	KHDRBS1	1	32498905	Silent	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		32498905	216751716	1	1919											
ADSS	159	broad.mit.edu	37	chr1	244582071	244582071	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggcttacattgtcttgCtctgtaggaaaggcaccaat	9	8	2	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:244582071C>T	uc001iaj.3	-	8	1253	c.936G>A	c.(934-936)gaG>gaA	p.E312E		NM_001126	NP_001117	P30520	PURA2_HUMAN	Homo sapiens adenylosuccinate synthase (ADSS), mRNA.	312					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CATTGTCTTGCTCTGTAGGAA	0.338													4	67					0	0	1	0	0	T	244582071	C	T	244582071	2	4	110	1	0	0	0	0	0	0	0	1	347	796	28	2		2	ADSS	1	244582071	Silent	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08	212083166	244582071	4668550	2	1920											
CCDC142	84865	broad.mit.edu	37	chr2	74709264	74709264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcaagaggcggagcacaCgggacgtggggaaaggacgt	18	9	1	1	rs145805017		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr2:74709264C>T	uc002slr.3	-	0	1094	c.701G>A	c.(700-702)cGt>cAt	p.R234H	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Missense_Mutation_p.R234H|CCDC142_uc002slp.2_Missense_Mutation_p.R234H	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	234										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GCGGAGCACACGGGACGTGGG	0.662													3	63					0	0	1	0	0	T	74709264	C	T	74709264	3	4	110	1	0	0	0	0	1	0	0	0	2776	536	19	1	1566	1	CCDC142	2	74709264	Missense_Mutation	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		74709264	168490109	3	1921											
MTTP	4547	broad.mit.edu	37	chr4	100532612	100532612	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttcacggtagccaggTaactcacttctcatggattt	9	10	4	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr4:100532612T>C	uc011cej.2	+	14	2083	c.2070_splice	c.e14+2	p.Q690_splice	MTTP_uc003hvc.4_Splice_Site_p.Q663_splice	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	663					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGTAGCCAGGTAACTCACTTC	0.398													4	145					0	0	1	0	0	C	100532612	T	C	100532612	5	2	110	1	0	0	0	0	0	0	1	0	9964	1652	57	3	2045	3	MTTP	4	100532612	Splice_Site	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08		100532612	90621664	4	1922											
DNAH5	1767	broad.mit.edu	37	chr5	13737517	13737517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgggtacttgtcaggcGgtaaagcaagttatcttcta	10	10	3	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:13737517G>A	uc003jfd.2	-	65	11341	c.11299C>T	c.(11299-11301)Cgc>Tgc	p.R3767C	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3767	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3767H(2)|p.R3767C(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCAGGCGGTAAAGCAAG	0.428									Kartagener syndrome				4	116					0	0	1	0	0	A	13737517	G	A	13737517	3	1	110	1	0	0	0	0	1	0	0	0	4604	1116	39	1	2631	1	DNAH5	5	13737517	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		13737517	167177743	5	1923											
POU4F3	5459	broad.mit.edu	37	chr5	145719616	145719616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacccaggcggacgtggGcgcggctctggctaatctca	16	12	2	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:145719616G>A	uc003loa.2	+	1	715	c.626G>A	c.(625-627)gGc>gAc	p.G209D		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	209	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGACGTGGGCGCGGCTCTG	0.637													6	73					0	0	1	0	0	A	145719616	G	A	145719616	3	1	110	1	0	0	0	0	1	0	0	0	12280	1203	42	2	632	2	POU4F3	5	145719616	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	131982099	145719616	35195644	6	1924											
TFAP2D	83741	broad.mit.edu	37	chr6	50683317	50683317	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggccgccgcgggagcagaCgacttgcaggtaaataagca	14	11	0	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr6:50683317C>A	uc003paf.3	+	1	1040	c.528C>A	c.(526-528)gaC>gaA	p.D176E	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	176							DNA binding|sequence-specific DNA binding transcription factor activity	p.A175S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGAGCAGACGACTTGCAGG	0.597													6	104					0	0	1	0	0	A	50683317	C	A	50683317	3	1	110	1	0	0	0	0	1	0	0	0	15787	535	19	4	534	4	TFAP2D	6	50683317	Missense_Mutation	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		50683317	120431750	7	1925											
MKRN1	23608	broad.mit.edu	37	chr7	140179061	140179061	+	Frame_Shift_Del	DEL	G	G	-													gtgactgtggggatcggggtGggggaggctgctgccgccgt							TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140179061delG	uc003vvt.2	-	0	309	c.84delC	c.(82-84)cccfs	p.P28fs	MKRN1_uc011krd.1_5'UTR|MKRN1_uc003vvv.4_Frame_Shift_Del_p.P28fs|MKRN1_uc003vvu.4_5'UTR	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	28							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GGATCGGGGTGGGGGAGgctg	0.701													2	4	---	---	---	---						-	140179061	G	-	140179061	7	5	110	1	0	1	0	1	0	0	0	0	9606	1335	47	0	1400	0	MKRN1	7	140179061	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		140179061	18959602	8	1926											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	84					0	0	1	0	0	T	140453136	A	T	140453136	3	4	110	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UQ-01A-11D-A22D-08	274075	140453136	18685527	9	1927											
SGK196	84197	broad.mit.edu	37	chr8	42977872	42977872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagggagtgatatggTccgattccatttgtttgata	11	5	0	3			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:42977872T>C	uc003xpw.2	+	4	1164	c.905T>C	c.(904-906)gTc>gCc	p.V302A		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	302	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										AGTGATATGGTCCGATTCCAT	0.478													3	101					0	0	1	0	0	C	42977872	T	C	42977872	3	2	110	1	0	0	0	0	1	0	0	0	14208	1667	58	3	911	3	SGK196	8	42977872	Missense_Mutation	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08		42977872	103386150	10	1928											
TP53INP1	94241	broad.mit.edu	37	chr8	95952260	95952260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcagtaaaacatggggGtggggtgataaaccagctct	13	8	1	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:95952260G>A	uc003yhg.3	-	2	685	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	TP53INP1_uc003yhh.3_Missense_Mutation_p.P101S	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	101					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAACATGGGGGTGGGGTGATA	0.463													3	78					0	0	1	0	0	A	95952260	G	A	95952260	3	1	110	1	0	0	0	0	1	0	0	0	16385	1261	44	2	455	2	TP53INP1	8	95952260	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	52974388	95952260	50411762	11	1929											
CD5	921	broad.mit.edu	37	chr11	60886790	60886790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagcggcagcctgggggGtaccatcagctatgaggccc	14	13	1	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:60886790G>A	uc009ynk.3	+	4	651	c.548G>A	c.(547-549)gGt>gAt	p.G183D		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	183	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGCCTGGGGGGTACCATCAGC	0.612													5	108					0	0	1	0	0	A	60886790	G	A	60886790	3	1	110	1	0	0	0	0	1	0	0	0	3021	1261	44	2	566	2	CD5	11	60886790	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		60886790	74119726	12	1930											
DLG2	1740	broad.mit.edu	37	chr11	84028118	84028118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccctgatcagggtgggcGcactcctgacggcatccatc	11	15	1	2			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:84028118G>A	uc021qof.1	-	0	265	c.71C>T	c.(70-72)gCg>gTg	p.A24V	DLG2_uc001paj.2_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Intron|DLG2_uc001pal.1_Intron|DLG2_uc001pam.2_Missense_Mutation_p.A24V	NM_001206769	NP_001193698	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 5, mRNA.	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAGGGTGGGCGCACTCCTGAC	0.592													9	380					0	0	1	0	0	A	84028118	G	A	84028118	3	1	110	1	0	0	0	0	1	0	0	0	4555	1102	38	1		1	DLG2	11	84028118	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	23141328	84028118	50978398	13	1931											
PANX1	24145	broad.mit.edu	37	chr11	93912962	93912962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagacgagtttgtgtgcaGcatcaaatcagggatcctga	11	9	3	2			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:93912962G>A	uc001per.3	+	3	1125	c.740G>A	c.(739-741)aGc>aAc	p.S247N	PANX1_uc001peq.3_Missense_Mutation_p.S247N	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	247					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTGTGTGCAGCATCAAATCA	0.493													3	118					0	0	1	0	0	A	93912962	G	A	93912962	3	1	110	1	0	0	0	0	1	0	0	0	11420	971	34	2	754	2	PANX1	11	93912962	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	9884844	93912962	41093554	14	1932											
YLPM1	56252	broad.mit.edu	37	chr14	75276498	75276498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgattatggccatggccGaggtgagtaatgatagtgca	14	5	0	3			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr14:75276498G>A	uc001xqj.4	+	6	5061	c.4937G>A	c.(4936-4938)cGa>cAa	p.R1646Q	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.R129Q	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCATGGCCGAGGTGAGTAA	0.468													3	55					0	0	1	0	0	A	75276498	G	A	75276498	3	1	110	1	0	0	0	0	1	0	0	0	17483	1058	37	1	4963	1	YLPM1	14	75276498	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		75276498	32073042	15	1933											
MAP2K6	5608	broad.mit.edu	37	chr17	67515461	67515461	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	catttccattcagcggatccGagccacagtaaatagccagg	9	12	1	0			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr17:67515461G>C	uc002jij.3	+	4	542	c.254G>C	c.(253-255)cGa>cCa	p.R85P	MAP2K6_uc002jii.3_Missense_Mutation_p.R85P|MAP2K6_uc002jik.3_Missense_Mutation_p.R115P	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	85	Protein kinase.				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CAGCGGATCCGAGCCACAGTA	0.468													31	85					0	0	1	0	0	C	67515461	G	C	67515461	3	2	110	1	0	0	0	0	1	0	0	0	9241	1058	37	4	272	4	MAP2K6	17	67515461	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		67515461	13679749	16	1934											
AKAP8L	26993	broad.mit.edu	37	chr19	15514819	15514819	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcacaggaatgacacttGcctctatttgtcccagagtt	7	11	2	2			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:15514819G>A	uc002naw.1	-	3	220	c.121_splice	c.e3+1	p.G41_splice	AKAP8L_uc002nax.1_Splice_Site|AKAP8L_uc010xoh.1_Splice_Site_p.G41_splice|AKAP8L_uc002nay.1_Splice_Site_p.G41_splice|AKAP8L_uc002naz.3_5'Flank	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	41	Gly/Tyr-rich.					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATGACACTTGCCTCTATTTG	0.498													4	60					0	0	1	0	0	A	15514819	G	A	15514819	5	1	110	1	0	0	0	0	0	0	1	0	458	1333	46	2	1865	2	AKAP8L	19	15514819	Splice_Site	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		15514819	43614164	17	1935											
NWD1	284434	broad.mit.edu	37	chr19	16910932	16910932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtctacttccccaaaaTtggggacaaaaacaaagtca	6	11	2	0	rs138963732		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:16910932T>C	uc002neu.4	+	16	4117	c.3695T>C	c.(3694-3696)aTt>aCt	p.I1232T	NWD1_uc002net.4_Missense_Mutation_p.I1097T|NWD1_uc002nev.4_Missense_Mutation_p.I1026T|NWD1_uc021uqg.1_Missense_Mutation_p.I1097T	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1232							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCCCCAAAATTGGGGACAAA	0.507													35	87					0	0	1	0	0	C	16910932	T	C	16910932	3	2	110	1	0	0	0	0	1	0	0	0	10781	1493	52	3	3340	3	NWD1	19	16910932	Missense_Mutation	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08	1396113	16910932	42218051	18	1936											
FPR2	2358	broad.mit.edu	37	chr19	52272349	52272349	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtctggccatgaaggtgatCgtcggaccttggattcttgc	13	9	2	2			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:52272349C>T	uc002pxr.3	+	1	483	c.438C>T	c.(436-438)atC>atT	p.I146I	FPR2_uc002pxs.4_Silent_p.I146I|FPR2_uc010epf.3_Silent_p.I146I|FPR2_uc021uyp.1_Silent_p.I146I	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	146					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAAGGTGATCGTCGGACCTT	0.478													16	90					0	0	1	0	0	T	52272349	C	T	52272349	2	4	110	1	0	0	0	0	0	0	0	1	6039	874	31	1		1	FPR2	19	52272349	Silent	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08	35361417	52272349	6856634	19	1937											
WFDC3	140686	broad.mit.edu	37	chr20	44417689	44417689	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcttatggggagggcattctCcctcttttgctgcaaaagat	10	9	3	1			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr20:44417689C>G	uc002xpf.1	-	2	176	c.92G>C	c.(91-93)gGa>gCa	p.G31A	DNTTIP1_uc002xpk.3_5'Flank|WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	31	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AGGGCATTCTCCCTCTTTTGC	0.517													4	205					0	0	1	0	0	G	44417689	C	G	44417689	3	3	110	1	0	0	0	0	1	0	0	0	17350	855	30	4	623	4	WFDC3	20	44417689	Missense_Mutation	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		44417689	18607831	20	1938											
CLCN5	1184	broad.mit.edu	37	chrX	49854982	49854982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgctcataagaccctgGcaatggatgtgatgaaaccc	10	9	1	3			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chrX:49854982G>A	uc004dor.1	+	12	2595	c.1954G>A	c.(1954-1956)Gca>Aca	p.A652T	CLCN5_uc004doq.1_Missense_Mutation_p.A652T|CLCN5_uc004dos.1_Missense_Mutation_p.A582T|CLCN5_uc004dot.1_Missense_Mutation_p.A582T	NM_001127899	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 1, mRNA.	582					excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TAAGACCCTGGCAATGGATGT	0.478													20	60					0	0	1	0	0	A	49854982	G	A	49854982	3	1	110	1	0	0	0	0	1	0	0	0	3466	1203	42	2	1996	2	CLCN5	23	49854982	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		49854982	105415578	21	1939											
TNR	7143	broad.mit.edu	37	chr1	175325475	175325475	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagtagaaaagttggtgctgAtggtgccactggtgagaggt	17	4	0	3			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr1:175325475A>T	uc001gkp.1	-	13	3179	c.3098T>A	c.(3097-3099)aTc>aAc	p.I1033N	TNR_uc009wwu.1_Missense_Mutation_p.I1033N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1033	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGGTGCTGATGGTGCCACT	0.498													30	164					0	0	1	0	0	T	175325475	A	T	175325475	3	4	111	1	0	0	0	0	1	0	0	0	16335	333	12	5	1010	5	TNR	1	175325475	Missense_Mutation	SNP	A	TCGA-DJ-A3UR-01A-11D-A22D-08		175325475	73925146	1	1940											
MATN3	4148	broad.mit.edu	37	chr2	20205863	20205863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacggcctgcttcagggaCtgcttatctgtgtaggcctg	12	13	2	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr2:20205863C>T	uc002rdl.3	-	1	495	c.432G>A	c.(430-432)caG>caA	p.Q144Q	MATN3_uc010exu.1_Silent_p.Q144Q	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	144	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCAGGGACTGCTTATCTG	0.567													3	108					0	0	1	0	0	T	20205863	C	T	20205863	2	4	111	1	0	0	0	0	0	0	0	1	9335	564	20	2		2	MATN3	2	20205863	Silent	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08		20205863	222993510	2	1941											
TUBA3D	113457	broad.mit.edu	37	chr2	132235871	132235871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccattggtggcggggaCgactccttcaacacgttctt	10	11	2	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr2:132235871C>T	uc002tsu.4	+	1	331	c.138C>T	c.(136-138)gaC>gaT	p.D46D		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	46					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGGCGGGGACGACTCCTTCA	0.562													48	63					0	0	1	0	0	T	132235871	C	T	132235871	2	4	111	1	0	0	0	0	0	0	0	1	16744	535	19	1		1	TUBA3D	2	132235871	Silent	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08	112030008	132235871	110963502	3	1942											
WDFY3	23001	broad.mit.edu	37	chr4	85696234	85696235	+	Frame_Shift_Ins	INS	-	-	T													tacctggactctgtgagcagINSttcaataaagtgttcaaata							TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr4:85696234_85696235insT	uc003hpd.3	-	27	4983_4984	c.4575_4576insA	c.(4573-4578)gaactgfs	p.E1525fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1525						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTGTGAGCAGTTCAATAAAGT	0.297													34	46	---	---	---	---						T	85696235	-	T	85696234	7	5	111	1	0	1	1	0	0	0	0	0	17267	1020	36	0	6168	0	WDFY3	4	85696234	Frame_Shift_Ins	INS	-	TCGA-DJ-A3UR-01A-11D-A22D-08		85696234	105458042	4	1943											
PCDHB14	56122	broad.mit.edu	37	chr5	140603736	140603736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagtggatggtggatcccCgcccaagtctgggacaactt	13	11	1	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr5:140603736C>A	uc003ljb.3	+	0	659	c.659C>A	c.(658-660)cCg>cAg	p.P220Q		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	220	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGATCCCCGCCCAAGTCT	0.478													3	122					0	0	1	0	0	A	140603736	C	A	140603736	3	1	111	1	0	0	0	0	1	0	0	0	11539	652	23	4	661	4	PCDHB14	5	140603736	Missense_Mutation	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08		140603736	40311524	5	1944											
TNIP1	10318	broad.mit.edu	37	chr5	150411907	150411907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagctctgatttggatttCgaacccctccacagggtaga	12	10	1	2			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr5:150411907C>T	uc003lti.3	-	16	2058	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	TNIP1_uc011dcn.2_Missense_Mutation_p.R124Q|TNIP1_uc010jhq.2_Intron|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Missense_Mutation_p.R489Q|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Intron|TNIP1_uc010jhm.3_Missense_Mutation_p.R542Q|TNIP1_uc010jhr.2_Missense_Mutation_p.R606Q|TNIP1_uc011dco.2_Missense_Mutation_p.E612K|TNIP1_uc003ltg.3_Missense_Mutation_p.R553Q|TNIP1_uc003ltk.3_Missense_Mutation_p.R606Q|TNIP1_uc003ltj.3_Missense_Mutation_p.R606Q|TNIP1_uc021ygb.1_Missense_Mutation_p.R606Q	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	606	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	p.R606Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTGGATTTCGAACCCCTCC	0.512													3	58					0	0	1	0	0	T	150411907	C	T	150411907	3	4	111	1	0	0	0	0	1	0	0	0	16311	884	31	1	101	1	TNIP1	5	150411907	Missense_Mutation	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08	9808171	150411907	30503353	6	1945											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				43	59					0	0	1	0	0	T	140453136	A	T	140453136	3	4	111	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UR-01A-11D-A22D-08		140453136	18685527	7	1946											
ANK1	286	broad.mit.edu	37	chr8	41530310	41530310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtcatgctccgtggccGccaaggggatggcgtctagg	17	10	2	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr8:41530310G>A	uc003xom.3	-	38	5063	c.4781C>T	c.(4780-4782)gCg>gTg	p.A1594V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.A1553V|ANK1_uc003xoj.3_Missense_Mutation_p.A1553V|ANK1_uc003xok.3_Missense_Mutation_p.A1553V|ANK1_uc003xol.3_Intron	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.	1553	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCGTGGCCGCCAAGGGGAT	0.622													3	59					0	0	1	0	0	A	41530310	G	A	41530310	3	1	111	1	0	0	0	0	1	0	0	0	620	1087	38	1	1333	1	ANK1	8	41530310	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		41530310	104833712	8	1947											
KCNA4	3739	broad.mit.edu	37	chr11	30033580	30033580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaaaaaatactcattgcGcaaagggtcaaagtactgag	9	7	3	1			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr11:30033580G>A	uc001msk.3	-	1	1887	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	KCNA4_uc021qfi.1_Missense_Mutation_p.R216C	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	216						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TACTCATTGCGCAAAGGGTCA	0.483													4	101					0	0	1	0	0	A	30033580	G	A	30033580	3	1	111	1	0	0	0	0	1	0	0	0	8005	1087	38	1	1319	1	KCNA4	11	30033580	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		30033580	104972936	9	1948											
LOH12CR1	118426	broad.mit.edu	37	chr12	12514275	12514275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattccaaccttccagccccTtttgaaaggtaaaggattgc	8	11	0	1			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr12:12514275T>C	uc001ral.2	+	1	560	c.194T>C	c.(193-195)cTt>cCt	p.L65P	LOH12CR1_uc009zhu.2_Intron	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	Homo sapiens loss of heterozygosity, 12, chromosomal region 1 (LOH12CR1), mRNA.	65										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TTCCAGCCCCTTTTGAAAGGT	0.468													3	153					0	0	1	0	0	C	12514275	T	C	12514275	3	2	111	1	0	0	0	0	1	0	0	0	8891	1609	56	3	200	3	LOH12CR1	12	12514275	Missense_Mutation	SNP	T	TCGA-DJ-A3UR-01A-11D-A22D-08		12514275	121337620	10	1949											
ADAMTS7	11173	broad.mit.edu	37	chr15	79056079	79056079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacccactgcgtgcaggggtGggtgttgcagggccgggtgg	20	10	0	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr15:79056079G>T	uc002bej.4	-	21	4913	c.4702C>A	c.(4702-4704)Cac>Aac	p.H1568N		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1568					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGCAGGGGTGGGTGTTGCAG	0.711													3	32					0	0	1	0	0	T	79056079	G	T	79056079	3	4	111	1	0	0	0	0	1	0	0	0	271	1348	47	4	370	4	ADAMTS7	15	79056079	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		79056079	23475313	11	1950											
MYO15A	51168	broad.mit.edu	37	chr17	18029723	18029723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttggaatctatgggccGgagcaggtgcagcagtacaa	14	7	1	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr17:18029723G>A	uc021trm.1	+	3	4038	c.3819G>A	c.(3817-3819)ccG>ccA	p.P1273P	MYO15A_uc021trl.1_Silent_p.P1273P	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1273	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTATGGGCCGGAGCAGGTGC	0.622													3	88					0	0	1	0	0	A	18029723	G	A	18029723	2	1	111	1	0	0	0	0	0	0	0	1	10063	1103	39	1		1	MYO15A	17	18029723	Silent	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		18029723	63165487	12	1951											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													3	100					0	0	1	0	0	G	9090831	A	G	9090831	2	3	111	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-DJ-A3UR-01A-11D-A22D-08		9090831	50038152	13	1952											
CYP2A13	1553	broad.mit.edu	37	chr19	41599590	41599590	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacctggtgatgaccacccTgaacctcttctttgcgggca	10	13	2	3			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:41599590T>C	uc002opt.3	+	5	896	c.887T>C	c.(886-888)cTg>cCg	p.L296P		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	296					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ATGACCACCCTGAACCTCTTC	0.557													3	118					0	0	1	0	0	C	41599590	T	C	41599590	3	2	111	1	0	0	0	0	1	0	0	0	4161	1580	55	3	909	3	CYP2A13	19	41599590	Missense_Mutation	SNP	T	TCGA-DJ-A3UR-01A-11D-A22D-08	32508759	41599590	17529393	14	1953											
GP6	51206	broad.mit.edu	37	chr19	55525819	55525819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggagatttgttagaccGcagtgggagatggagtgagg	18	3	0	4			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:55525819G>A	uc002qil.3	-	7	1522	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	GP6_uc002qik.3_3'UTR|GP6_uc010esq.3_3'UTR	NM_001083899	NP_001077368	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 1, mRNA.	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TTGTTAGACCGCAGTGGGAGA	0.502													4	147					0	0	1	0	0	A	55525819	G	A	55525819	2	1	111	1	0	0	0	0	0	0	0	1	6584	1079	38	1		1	GP6	19	55525819	Silent	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08	13926229	55525819	3603164	15	1954											
ZNF211	10520	broad.mit.edu	37	chr19	58152518	58152518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaacaagtgtgcggtggccTtttacagtggaaaaagtcat	12	6	1	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:58152518T>C	uc002qpr.2	+	5	1159	c.856T>C	c.(856-858)Ttt>Ctt	p.F286L	ZNF211_uc010yhb.1_Missense_Mutation_p.F226L|ZNF211_uc002qpp.2_Missense_Mutation_p.F235L|ZNF211_uc002qpq.2_Missense_Mutation_p.F222L|ZNF211_uc002qpt.2_Missense_Mutation_p.F234L|ZNF211_uc010yhc.1_Missense_Mutation_p.F234L|ZNF211_uc010yhe.1_Missense_Mutation_p.F213L|ZNF211_uc010yhd.1_Missense_Mutation_p.F161L	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	222						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCGGTGGCCTTTTACAGTGG	0.468													3	97					0	0	1	0	0	C	58152518	T	C	58152518	3	2	111	1	0	0	0	0	1	0	0	0	17764	1609	56	3	717	3	ZNF211	19	58152518	Missense_Mutation	SNP	T	TCGA-DJ-A3UR-01A-11D-A22D-08	2626699	58152518	976465	16	1955											
GNAS	2778	broad.mit.edu	37	chr20	57429071	57429071	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagttatcgcacaagtcgacGgcagcagccagttcgcggca	13	12	0	0			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr20:57429071G>C	uc002xzw.3	+	0	1036	c.751G>C	c.(751-753)Ggc>Cgc	p.G251R	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACAAGTCGACGGCAGCAGCCA	0.677			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			15	14					0	0	1	0	0	C	57429071	G	C	57429071	3	2	111	1	0	0	0	0	1	0	0	0	6510	1116	39	4	1495	4	GNAS	20	57429071	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		57429071	5596449	17	1956											
HCCS	3052	broad.mit.edu	37	chrX	11139095	11139095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtattcaccaagggcacGaattcgttcctggatggggt	13	8	1	1			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chrX:11139095G>A	uc004cul.2	+	5	770	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	HCCS_uc004cuk.3_Missense_Mutation_p.R197Q|HCCS_uc004cuj.3_Missense_Mutation_p.R197Q	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	197					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						CCAAGGGCACGAATTCGTTCC	0.453													11	244					0	0	1	0	0	A	11139095	G	A	11139095	3	1	111	1	0	0	0	0	1	0	0	0	6990	1058	37	1	608	1	HCCS	23	11139095	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		11139095	144131465	18	1957											
ILDR2	387597	broad.mit.edu	37	chr1	166889963	166889963	+	Frame_Shift_Del	DEL	T	T	-													cggttttcttggcgggctccTttttcctcttcttctccgag							TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr1:166889963delT	uc001gdx.2	-	8	1921	c.1865delA	c.(1864-1866)aagfs	p.K622fs		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	622						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCGGGCTCCTTTTTCCTCTT	0.682													2	4	---	---	---	---						-	166889963	T	-	166889963	7	5	112	1	0	1	0	1	0	0	0	0	7710	1609	56	0	62	0	ILDR2	1	166889963	Frame_Shift_Del	DEL	T	TCGA-DJ-A3US-01A-11D-A22D-08		166889963	82360658	1	1958											
C4BPA	722	broad.mit.edu	37	chr1	207317265	207317265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgtgattctggctatgGtgtggttggtccccaaagta	12	8	1	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr1:207317265G>A	uc001hfo.3	+	10	1741	c.1547G>A	c.(1546-1548)gGt>gAt	p.G516D		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	516	Sushi 8.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.Y515*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTGGCTATGGTGTGGTTGGT	0.473													19	88					0	0	1	0	0	A	207317265	G	A	207317265	3	1	112	1	0	0	0	0	1	0	0	0	2249	1261	44	2	1585	2	C4BPA	1	207317265	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08	40427302	207317265	41933356	2	1959											
CLASP1	23332	broad.mit.edu	37	chr2	122122645	122122645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattacatggaaaggggcaAgataaggccaaaccagcatc	10	10	0	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr2:122122645A>C	uc002tnf.3	-	4	1032	c.808T>G	c.(808-810)Ttg>Gtg	p.L270V	CLASP1_uc010yyv.2_Intron|CLASP1_uc002tmz.3_Intron|CLASP1_uc002tna.3_Intron|CLASP1_uc010yyw.2_Intron|CLASP1_uc002tnb.3_Intron|CLASP1_uc010yyx.2_Intron|CLASP1_uc010yyy.2_Intron|CLASP1_uc002tnc.3_Intron|CLASP1_uc010yyz.2_Intron|CLASP1_uc010yza.2_Intron|CLASP1_uc021vnl.1_Intron|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tmy.3_Intron			Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 3, mRNA.	940					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GAAAGGGGCAAGATAAGGCCA	0.473													15	24					0	0	1	0	0	C	122122645	A	C	122122645	3	2	112	1	0	0	0	0	1	0	0	0	3454	87	3	5		5	CLASP1	2	122122645	Missense_Mutation	SNP	A	TCGA-DJ-A3US-01A-11D-A22D-08		122122645	121076728	3	1960											
TRANK1	9881	broad.mit.edu	37	chr3	36873948	36873948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttttatcctgctgcctcTccccctgcccctttcatcct	3	20	2	0			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr3:36873948T>C	uc003cgj.3	-	20	7242	c.6994A>G	c.(6994-6996)Aga>Gga	p.R2332G		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2332					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCTGCCTCTCCCCCTGCCC	0.507													3	109					0	0	1	0	0	C	36873948	T	C	36873948	3	2	112	1	0	0	0	0	1	0	0	0	16451	1559	54	3	1795	3	TRANK1	3	36873948	Missense_Mutation	SNP	T	TCGA-DJ-A3US-01A-11D-A22D-08		36873948	161148482	4	1961											
SMARCA5	8467	broad.mit.edu	37	chr4	144467147	144467147	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacagcttaaaattgatgaaGctgaatcccttaatgatgaa	7	6	0	5			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr4:144467147G>C	uc003ijg.3	+	18	2929	c.2467G>C	c.(2467-2469)Gct>Cct	p.A823P		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	823					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATTGATGAAGCTGAATCCCT	0.358													29	44					0	0	1	0	0	C	144467147	G	C	144467147	3	2	112	1	0	0	0	0	1	0	0	0	14771	971	34	4	2541	4	SMARCA5	4	144467147	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		144467147	46687129	5	1962											
MANEA	79694	broad.mit.edu	37	chr6	96034277	96034277	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttttcaataaattgcaGcaaaacacttactattttgg	4	7	2	0			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr6:96034277G>A	uc003poo.2	+	2	143	c.-37_splice	c.e2-1		MANEA_uc003pon.3_Splice_Site	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.						post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATAAATTGCAGCAAAACACTT	0.274													3	73					0	0	1	0	0	A	96034277	G	A	96034277	5	1	112	1	0	0	0	0	0	0	1	0	9221	985	34	2		2	MANEA	6	96034277	Splice_Site	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		96034277	75080790	6	1963											
IL33	90865	broad.mit.edu	37	chr9	6251164	6251164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacaaaagacatctggTactcgctgcctgtcaacagc	8	12	2	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr9:6251164T>C	uc003zjt.3	+	3	320	c.242T>C	c.(241-243)gTa>gCa	p.V81A	IL33_uc011lmg.2_Missense_Mutation_p.V81A|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Intron	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	81					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AGACATCTGGTACTCGCTGCC	0.468													3	66					0	0	1	0	0	C	6251164	T	C	6251164	3	2	112	1	0	0	0	0	1	0	0	0	7693	1638	57	3	252	3	IL33	9	6251164	Missense_Mutation	SNP	T	TCGA-DJ-A3US-01A-11D-A22D-08		6251164	134962267	7	1964											
FAM129B	64855	broad.mit.edu	37	chr9	130270798	130270798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagggtctcgaacgtaTacacggcattgtccatttgc	12	10	1	0			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr9:130270798T>C	uc004brh.3	-	10	1539	c.1337A>G	c.(1336-1338)tAt>tGt	p.Y446C	FAM129B_uc004bri.3_Missense_Mutation_p.Y433C|FAM129B_uc004brj.4_Missense_Mutation_p.Y446C	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	446							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCGAACGTATACACGGCATT	0.637													13	222					0	0	1	0	0	C	130270798	T	C	130270798	3	2	112	1	0	0	0	0	1	0	0	0	5437	1406	49	3	919	3	FAM129B	9	130270798	Missense_Mutation	SNP	T	TCGA-DJ-A3US-01A-11D-A22D-08	124019634	130270798	10942633	8	1965											
MMP8	4317	broad.mit.edu	37	chr11	102584153	102584153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcaataagatcaaatgCgtaatatcttggtccactga	8	8	2	3			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr11:102584153C>A	uc001phe.2	-	9	1429	c.1330G>T	c.(1330-1332)Gca>Tca	p.A444S	MMP8_uc010rut.1_3'UTR|MMP8_uc010ruu.1_Missense_Mutation_p.A421S	NM_002424	NP_002415	P22894	MMP8_HUMAN	Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.	444	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AGATCAAATGCGTAATATCTT	0.343													3	97					0	0	1	0	0	A	102584153	C	A	102584153	3	1	112	1	0	0	0	0	1	0	0	0	9668	768	27	4	77	4	MMP8	11	102584153	Missense_Mutation	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		102584153	32422363	9	1966											
LRRC43	254050	broad.mit.edu	37	chr12	122687921	122687921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccctgagcccctgaccGtagaggtgcagatccagctg	11	15	0	4			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr12:122687921G>A	uc009zxm.3	+	11	1928	c.1903G>A	c.(1903-1905)Gta>Ata	p.V635I	LRRC43_uc001ubw.4_Missense_Mutation_p.V450I|LRRC43_uc009zxn.3_Missense_Mutation_p.V396I|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	635										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCCCTGACCGTAGAGGTGCA	0.592													4	98					0	0	1	0	0	A	122687921	G	A	122687921	3	1	112	1	0	0	0	0	1	0	0	0	9001	1145	40	1	1949	1	LRRC43	12	122687921	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		122687921	11163974	10	1967											
ZIC2	7546	broad.mit.edu	37	chr13	100637890	100637890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggggcagcgggacagccgGgggtcacagcggcctctcct	18	14	2	0			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr13:100637890G>T	uc001von.3	+	2	1846	c.1553G>T	c.(1552-1554)gGg>gTg	p.G518V		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	518					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ggGACAGCCGGGGGTCACAGC	0.771													9	23					0	0	1	0	0	T	100637890	G	T	100637890	3	4	112	1	0	0	0	0	1	0	0	0	17676	1232	43	4	1563	4	ZIC2	13	100637890	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		100637890	14531988	11	1968											
MAP1A	4130	broad.mit.edu	37	chr15	43816894	43816894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccccaggcccaggaaGcacctgtcaacattgatgag	12	13	1	2			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr15:43816894G>A	uc001zrt.3	+	3	3690	c.3223G>A	c.(3223-3225)Gca>Aca	p.A1075T		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1075						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCCCAGGAAGCACCTGTCAA	0.532													3	120					0	0	1	0	0	A	43816894	G	A	43816894	3	1	112	1	0	0	0	0	1	0	0	0	9227	971	34	2	3225	2	MAP1A	15	43816894	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		43816894	58714498	12	1969											
C15orf42	90381	broad.mit.edu	37	chr15	90129030	90129030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgatcctcactgtgtgccGcaccaaggaggctgaatttc	10	11	1	2			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr15:90129030G>A	uc002boe.3	+	3	1268	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	C15orf42_uc021sug.1_Missense_Mutation_p.R422H	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	423					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACTGTGTGCCGCACCAAGGAG	0.542													3	105					0	0	1	0	0	A	90129030	G	A	90129030	3	1	112	1	0	0	0	0	1	0	0	0	1796	1087	38	1	1282	1	C15orf42	15	90129030	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08	46312136	90129030	12402362	13	1970											
C17orf28	283987	broad.mit.edu	37	chr17	72951961	72951961	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtggtggttctgggcggcaGagaagaggaaccaggtggtg	21	5	1	2			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr17:72951961G>C	uc002jmj.4	-	12	1711	c.1562C>G	c.(1561-1563)tCt>tGt	p.S521C	C17orf28_uc002jmi.3_5'Flank|C17orf28_uc010wrs.2_Missense_Mutation_p.S320C	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	521						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					CTGGGCGGCAGAGAAGAGGAA	0.572													37	86					0	0	1	0	0	C	72951961	G	C	72951961	3	2	112	1	0	0	0	0	1	0	0	0	1853	942	33	4	832	4	C17orf28	17	72951961	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		72951961	8243249	14	1971											
UPF1	5976	broad.mit.edu	37	chr19	18960960	18960960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcccctgggggagacaGtcctggagtgctacaactgc	15	12	0	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr19:18960960G>A	uc002nkg.3	+	3	813	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	UPF1_uc002nkf.3_Missense_Mutation_p.V180I	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	180	Sufficient for interaction with RENT2.				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GGGGGAGACAGTCCTGGAGTG	0.562													3	126					0	0	1	0	0	A	18960960	G	A	18960960	3	1	112	1	0	0	0	0	1	0	0	0	17000	1029	36	2	552	2	UPF1	19	18960960	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		18960960	40168023	15	1972											
TGM6	343641	broad.mit.edu	37	chr20	2380227	2380227	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacagcaacaacgaccgAggtgtggtgcaaggacagtg	15	8	0	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr20:2380227A>T	uc002wfy.1	+	5	754	c.693A>T	c.(691-693)cgA>cgT	p.R231R	TGM6_uc010gal.1_Silent_p.R231R	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	231					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAACGACCGAGGTGTGGTGC	0.632													33	115					0	0	1	0	0	T	2380227	A	T	2380227	2	4	112	1	0	0	0	0	0	0	0	1	15831	291	11	5		5	TGM6	20	2380227	Silent	SNP	A	TCGA-DJ-A3US-01A-11D-A22D-08		2380227	60645293	16	1973											
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971024	31971024	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatagtagtagccagagCcgcatccatagccacagcca	8	14	1	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr21:31971024C>G	uc011adc.2	-	0	170	c.170G>C	c.(169-171)gGc>gCc	p.G57A	KRTAP22-1_uc011add.2_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.	57						intermediate filament		p.G57S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GTAGCCAGAGCCGCATCCATA	0.567													16	43					0	0	1	0	0	G	31971024	C	G	31971024	3	3	112	1	0	0	0	0	1	0	0	0	8570	739	26	4	21	4	KRTAP6-2	21	31971024	Missense_Mutation	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		31971024	16158871	17	1974											
TOP3B	8940	broad.mit.edu	37	chr22	22318659	22318659	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgtagagccgctcagcCgtctgcatggcgtgctgcgg	16	12	2	1			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr22:22318659C>A	uc002zvs.3	-	9	1407	c.972G>T	c.(970-972)acG>acT	p.T324T	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Silent_p.T324T|TOP3B_uc010gtl.3_Silent_p.T324T	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	324					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCCGCTCAGCCGTCTGCATGG	0.637													3	110					0	0	1	0	0	A	22318659	C	A	22318659	2	1	112	1	0	0	0	0	0	0	0	1	16365	639	23	4		4	TOP3B	22	22318659	Silent	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		22318659	28985907	18	1975											
PHEX	5251	broad.mit.edu	37	chrX	22108574	22108574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaacactctccctggccGtgagggaagactaccttgat	10	12	1	3			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chrX:22108574G>A	uc004dah.3	+	5	894	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	PHEX_uc011mjr.2_Missense_Mutation_p.V231M|PHEX_uc011mjs.2_Missense_Mutation_p.V134M	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	231					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.A230A(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTCCCTGGCCGTGAGGGAAGA	0.428													3	107					0	0	1	0	0	A	22108574	G	A	22108574	3	1	112	1	0	0	0	0	1	0	0	0	11819	1145	40	1	713	1	PHEX	23	22108574	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		22108574	133161986	19	1976											
MAGEA3	4102	broad.mit.edu	37	chrX	151935879	151935879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactccaggtcagggaaggtGcttggcccctcctcttcttg	12	13	3	0			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chrX:151935879G>T	uc004fgp.3	-	2	497	c.288C>A	c.(286-288)agC>agA	p.S96R	MAGEA3_uc022chl.1_Missense_Mutation_p.S96R	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	96										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGAAGGTGCTTGGCCCCT	0.577													5	148					0	0	1	0	0	T	151935879	G	T	151935879	3	4	112	1	0	0	0	0	1	0	0	0	9167	1310	46	4	660	4	MAGEA3	23	151935879	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08	129827305	151935879	3334681	20	1977											
PLEKHM2	23207	broad.mit.edu	37	chr1	16057150	16057150	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaccaaagaaggcatgCtgcactacaaggcgggcacc	10	14	1	1			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:16057150C>G	uc010obo.2	+	14	2559	c.2332C>G	c.(2332-2334)Ctg>Gtg	p.L778V		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	778	Interaction with sifA.|PH.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGAAGGCATGCTGCACTACAA	0.652													8	15					0	0	1	0	0	G	16057150	C	G	16057150	3	3	113	1	0	0	0	0	1	0	0	0	12081	796	28	4	2390	4	PLEKHM2	1	16057150	Missense_Mutation	SNP	C	TCGA-DJ-A3UT-01A-11D-A22D-08		16057150	233193471	1	1978											
PLA2G5	5322	broad.mit.edu	37	chr1	20412680	20412681	+	Missense_Mutation	DNP	GG	GG	CT													gcttctacggctgttactgcGgctggggcggccgaggaacc							TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:20412680_20412681GG>CT	uc001bcx.3	+	7	1101_1102	c.238_239GG>CT	c.(238-240)ggc>CTc	p.G80L	PLA2G5_uc001bcy.3_Missense_Mutation_p.G49L	NM_000929	NP_000920	P39877	PA2G5_HUMAN	Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.	49					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.G49S(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CTGTTACTGCGGCTGGGGCGGC	0.554													6	84					0	0	1	0	0	CT	20412681	GG	CT	20412680	3	2	113	1	0	0	0	0	1	0	0	0	12007	1116	39	4	151	4	PLA2G5	1	20412680	Missense_Mutation	DNP	GG	TCGA-DJ-A3UT-01A-11D-A22D-08	4355530	20412680	228837941	2	1979											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			96	133					0	0	1	0	0	C	115256529	T	C	115256529	3	2	113	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08	94843849	115256529	133994092	3	1980											
HRNR	388697	broad.mit.edu	37	chr1	152190916	152190916	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctagatccatgttgaccGtagccagaggactgtcctga	12	10	0	4	rs141737935	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:152190916G>T	uc001ezt.1	-	2	3265	c.3189C>A	c.(3187-3189)taC>taA	p.Y1063*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1063					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGACCGTAGCCAGAGG	0.562													16	403					0	0	1	0	0	T	152190916	G	T	152190916	4	4	113	1	0	0	0	0	0	1	0	0	7359	1140	40	4	5367	4	HRNR	1	152190916	Nonsense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	36934387	152190916	97059705	4	1981											
RAPH1	65059	broad.mit.edu	37	chr2	204322299	204322299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatctcagctgtttctTttttccccaaaagataattc	4	12	2	1			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr2:204322299T>C	uc002vad.3	-	7	1337	c.1112A>G	c.(1111-1113)aAa>aGa	p.K371R	RAPH1_uc002vae.3_Missense_Mutation_p.K423R|RAPH1_uc002vaf.3_Missense_Mutation_p.K423R	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	371					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCTGTTTCTTTTTTCCCCAA	0.373													3	132					0	0	1	0	0	C	204322299	T	C	204322299	3	2	113	1	0	0	0	0	1	0	0	0	13050	1841	64	3	2675	3	RAPH1	2	204322299	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08		204322299	38877074	5	1982											
VGLL4	9686	broad.mit.edu	37	chr3	11684953	11684953	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgttgttcatcttgtccaAgtactgatagttcaacaggt	8	7	3	1			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr3:11684953A>C	uc010hdx.1	-	0	446	c.40T>G	c.(40-42)Ttg>Gtg	p.L14V	VGLL4_uc003bwf.2_Intron|VGLL4_uc003bwg.2_Intron	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S13F(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATCTTGTCCAAGTACTGATAG	0.438													35	199					0	0	1	0	0	C	11684953	A	C	11684953	3	2	113	1	0	0	0	0	1	0	0	0	17158	69	3	5	894	5	VGLL4	3	11684953	Missense_Mutation	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		11684953	186337477	6	1983											
GRIA2	2891	broad.mit.edu	37	chr4	158142928	158142928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccacatcgacaatttggaGgtggcaaacagcttcgcagt	10	12	0	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr4:158142928G>C	uc003ipm.4	+	1	657	c.198G>C	c.(196-198)gaG>gaC	p.E66D	GRIA2_uc011cit.2_Missense_Mutation_p.E19D|GRIA2_uc021xtr.1_Missense_Mutation_p.E66D|GRIA2_uc003ipl.4_Missense_Mutation_p.E66D|GRIA2_uc003ipk.4_Missense_Mutation_p.E19D|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	66					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACAATTTGGAGGTGGCAAACA	0.502													11	109					0	0	1	0	0	C	158142928	G	C	158142928	3	2	113	1	0	0	0	0	1	0	0	0	6768	991	35	4	204	4	GRIA2	4	158142928	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		158142928	33011348	7	1984											
ZNF608	57507	broad.mit.edu	37	chr5	123980144	123980144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcttgctctcctccaTtgattgagaatcaggatgct	8	10	3	2	rs141350098		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:123980144T>C	uc003ktq.1	-	4	4099	c.3916A>G	c.(3916-3918)Atg>Gtg	p.M1306V	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_Missense_Mutation_p.M1V	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1306						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTCTCCTCCATTGATTGAGAA	0.478													6	317					0	0	1	0	0	C	123980144	T	C	123980144	3	2	113	1	0	0	0	0	1	0	0	0	18031	1493	52	3	642	3	ZNF608	5	123980144	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08		123980144	56935116	8	1985											
GRIA1	2890	broad.mit.edu	37	chr5	153026644	153026644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttgtccttcagctgcGccctgaactgcaggatgccc	10	14	2	1	rs149549228		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:153026644G>A	uc011dcy.2	+	2	434	c.407G>A	c.(406-408)cGc>cAc	p.R136H	GRIA1_uc003lva.4_Missense_Mutation_p.R126H|GRIA1_uc003luy.4_Missense_Mutation_p.R126H|GRIA1_uc003luz.4_Missense_Mutation_p.R31H|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.R57H|GRIA1_uc011dcz.2_Missense_Mutation_p.R136H|GRIA1_uc010jia.1_Missense_Mutation_p.R106H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	126					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCAGCTGCGCCCTGAACTG	0.507													36	127					0	0	1	0	0	A	153026644	G	A	153026644	3	1	113	1	0	0	0	0	1	0	0	0	6767	1087	38	1	387	1	GRIA1	5	153026644	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	29046500	153026644	27888616	9	1986											
ZNF346	23567	broad.mit.edu	37	chr5	176468158	176468158	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atccagaagaaccaatgtctCttcaccaacacccagtgtaa	5	13	2	2			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:176468158C>T	uc003mfk.1	+	2	325	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ZNF346_uc003mfi.3_Silent_p.L69L|ZNF346_uc011dfr.2_Silent_p.L69L|ZNF346_uc011dfs.2_Intron|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Homo sapiens zinc finger protein 346 (ZNF346), mRNA.	69						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			ACCAATGTCTCTTCACCAACA	0.453													34	221					0	0	1	0	0	T	176468158	C	T	176468158	2	4	113	1	0	0	0	0	0	0	0	1	17857	900	32	2		2	ZNF346	5	176468158	Silent	SNP	C	TCGA-DJ-A3UT-01A-11D-A22D-08	23441514	176468158	4447102	10	1987											
C4B	721	broad.mit.edu	37	chr6	31964267	31964267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagtgctgggctcctggGtgcccacgcagctgccatca	13	14	1	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr6:31964267G>A	uc011doy.2	+	27	3617	c.3566G>A	c.(3565-3567)gGt>gAt	p.G1189D	C4B_uc011doz.2_Missense_Mutation_p.G1189D	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1189					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGGCTCCTGGGTGCCCACGCA	0.602													7	110					0	0	1	0	0	A	31964267	G	A	31964267	3	1	113	1	0	0	0	0	1	0	0	0	2248	1261	44	2		2	C4B	6	31964267	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		31964267	139150800	11	1988											
THEMIS	387357	broad.mit.edu	37	chr6	128150695	128150695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctttaggaaatggattcGttgagtcccacttatttgaa	9	6	1	2			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr6:128150695G>A	uc011ebt.2	-	2	784	c.635C>T	c.(634-636)aCg>aTg	p.T212M	THEMIS_uc010kfa.3_Missense_Mutation_p.T115M|THEMIS_uc021zfa.1_Missense_Mutation_p.T212M|THEMIS_uc010kfb.3_Missense_Mutation_p.T177M	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	212	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AAATGGATTCGTTGAGTCCCA	0.358													5	92					0	0	1	0	0	A	128150695	G	A	128150695	3	1	113	1	0	0	0	0	1	0	0	0	15857	1145	40	1	1427	1	THEMIS	6	128150695	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	96186428	128150695	42964372	12	1989											
AMBRA1	55626	broad.mit.edu	37	chr11	46455150	46455150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacatatctgcccattggGgacaggctcaccgaaatggc	10	11	2	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr11:46455150G>A	uc001ncv.2	-	15	3173	c.2859C>T	c.(2857-2859)tcC>tcT	p.S953S	AMBRA1_uc010rgt.1_Silent_p.S516S|AMBRA1_uc009ylc.1_Silent_p.S921S|AMBRA1_uc001ncu.1_Silent_p.S860S|AMBRA1_uc010rgu.1_Silent_p.S950S|AMBRA1_uc001ncw.2_Silent_p.S831S|AMBRA1_uc001ncx.2_Silent_p.S890S	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	950					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGCCCATTGGGGACAGGCTCA	0.532													3	60					0	0	1	0	0	A	46455150	G	A	46455150	2	1	113	1	0	0	0	0	0	0	0	1	565	1219	43	2		2	AMBRA1	11	46455150	Silent	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		46455150	88551366	13	1990											
KCNA5	3741	broad.mit.edu	37	chr12	5154190	5154190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgccccaccagcctcccGcgcccgcccctggggccaac	11	24	0	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr12:5154190G>A	uc001qni.3	+	0	1106	c.877G>A	c.(877-879)Gcg>Acg	p.A293T		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	293						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCAGCCTCCCGCGCCCGCCCC	0.687													4	83					0	0	1	0	0	A	5154190	G	A	5154190	3	1	113	1	0	0	0	0	1	0	0	0	8006	1087	38	1	879	1	KCNA5	12	5154190	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		5154190	128697705	14	1991											
TSHR	7253	broad.mit.edu	37	chr14	81610320	81610320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcatatgcatggccccaAtctcattctatgctctgtca	5	13	5	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr14:81610320A>G	uc001xvd.1	+	9	2074	c.1918A>G	c.(1918-1920)Atc>Gtc	p.I640V		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	640					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.P639S(2)|p.P639Q(1)|p.P639A(1)|p.I640K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGGCCCCAATCTCATTCTA	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						5	191					0	0	1	0	0	G	81610320	A	G	81610320	3	3	113	1	0	0	0	0	1	0	0	0	16619	101	4	3	2093	3	TSHR	14	81610320	Missense_Mutation	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		81610320	25739220	15	1992											
C16orf62	57020	broad.mit.edu	37	chr16	19580877	19580877	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccctctccatgtttgcAgccactgctgaccccgcagc	8	19	1	1			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr16:19580877A>C	uc002dgn.2	+	2	564	c.249A>C	c.(247-249)gcA>gcC	p.A83A	C16orf62_uc002dgo.2_Silent_p.A172A|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Silent_p.A172A	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	83						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCATGTTTGCAGCCACTGCTG	0.617													3	97					0	0	1	0	0	C	19580877	A	C	19580877	2	2	113	1	0	0	0	0	0	0	0	1	1825	175	7	5		5	C16orf62	16	19580877	Silent	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		19580877	70773876	16	1993											
EZH1	2145	broad.mit.edu	37	chr17	40865386	40865386	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgggggttgtggagcaTggcatactcctttgctcctt	15	9	0	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr17:40865386T>A	uc010wgu.2	-	9	1099	c.1063A>T	c.(1063-1065)Atg>Ttg	p.M355L	EZH1_uc002iaz.3_Missense_Mutation_p.M349L|EZH1_uc002iba.3_Missense_Mutation_p.M340L|EZH1_uc010wgt.2_Missense_Mutation_p.M279L|EZH1_uc010wgv.2_Missense_Mutation_p.M309L|EZH1_uc010wgw.2_Missense_Mutation_p.M210L|EZH1_uc010cyp.2_Missense_Mutation_p.M250L|EZH1_uc010cyq.2_Missense_Mutation_p.M266L|EZH1_uc010cys.2_Missense_Mutation_p.M300L|EZH1_uc010cyo.1_Missense_Mutation_p.M12L|EZH1_uc010cyr.1_Missense_Mutation_p.M1L	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	349					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTGTGGAGCATGGCATACTCC	0.522													6	136					0	0	1	0	0	A	40865386	T	A	40865386	3	1	113	1	0	0	0	0	1	0	0	0	5333	1464	51	5	1242	5	EZH1	17	40865386	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08		40865386	40329824	17	1994											
COX7B	1349	broad.mit.edu	37	chrX	77155051	77155051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctagcttcaccttcacgAtgtttcccttggtcaaaagc	7	12	4	0			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chrX:77155051A>G	uc004ecu.1	+	0	91	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001866	NP_001857	P24311	COX7B_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIb (COX7B), nuclear gene encoding mitochondrial protein, mRNA.	1					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443													8	50					0	0	1	0	0	G	77155051	A	G	77155051	3	3	113	1	0	0	0	0	1	0	0	0	3782	333	12	3	3	3	COX7B	23	77155051	Missense_Mutation	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		77155051	78115509	18	1995											
RBMX2	51634	broad.mit.edu	37	chrX	129546577	129546577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggacctagagagggagCtgaagaaggagaaacccaag	15	7	0	5			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chrX:129546577C>T	uc004evt.3	+	5	788	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	242	Lys-rich.						RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAGAGGGAGCTGAAGAAGGA	0.572													3	41					0	0	1	0	0	T	129546577	C	T	129546577	2	4	113	1	0	0	0	0	0	0	0	1	13152	796	28	2		2	RBMX2	23	129546577	Silent	SNP	C	TCGA-DJ-A3UT-01A-11D-A22D-08	52391526	129546577	25723983	19	1996											
GPR39	2863	broad.mit.edu	37	chr2	133402697	133402697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgttgtgacattggccGtatgctggatgcccaaccag	12	9	0	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr2:133402697G>A	uc002ttl.3	+	1	1349	c.880G>A	c.(880-882)Gta>Ata	p.V294I	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	294						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	p.V294I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACATTGGCCGTATGCTGGAT	0.527													3	89					0	0	1	0	0	A	133402697	G	A	133402697	3	1	114	1	0	0	0	0	1	0	0	0	6693	1145	40	1	886	1	GPR39	2	133402697	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		133402697	109796676	1	1997											
COL25A1	84570	broad.mit.edu	37	chr4	109745340	109745340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtcaccttttctcccTtttctcctagatcacccttc	5	15	4	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr4:109745340T>C	uc021xqo.1	-	33	1891	c.1835A>G	c.(1834-1836)aAg>aGg	p.K612R	COL25A1_uc003hze.1_Missense_Mutation_p.K612R|COL25A1_uc021xqp.1_Missense_Mutation_p.K612R|COL25A1_uc003hzg.3_Missense_Mutation_p.K612R|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.K400R	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	612	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTTCTCCCTTTTCTCCTAG	0.438													3	108					0	0	1	0	0	C	109745340	T	C	109745340	3	2	114	1	0	0	0	0	1	0	0	0	3684	1609	56	3	229	3	COL25A1	4	109745340	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08		109745340	81408936	2	1998											
BRIX1	55299	broad.mit.edu	37	chr5	34915926	34915926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgaaatagatgcggagcCgccagctaagcggcacgcca	12	12	0	1			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr5:34915926C>A	uc003jja.3	+	0	107	c.83C>A	c.(82-84)cCg>cAg	p.P28Q	RAD1_uc003jiw.3_5'Flank|RAD1_uc003jix.3_5'Flank|RAD1_uc003jiy.3_Intron|BRIX1_uc003jiz.3_Missense_Mutation_p.P28Q|BRIX1_uc011col.1_Missense_Mutation_p.P28Q	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.	28					ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATGCGGAGCCGCCAGCTAAG	0.617													2	5					0	0	1	0	0	A	34915926	C	A	34915926	3	1	114	1	0	0	0	0	1	0	0	0	1515	652	23	4	85	4	BRIX1	5	34915926	Missense_Mutation	SNP	C	TCGA-DJ-A3UU-01A-11D-A22D-08		34915926	145999334	3	1999											
ESR1	2099	broad.mit.edu	37	chr6	152332842	152332842	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttctagaatgtgcctGgctagagatcctgatgattg	10	10	1	4			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr6:152332842G>A	uc010kio.3	+	5	1372	c.1154G>A	c.(1153-1155)tGg>tAg	p.W385*	ESR1_uc003qom.4_Nonsense_Mutation_p.W383*|ESR1_uc010kin.3_Nonsense_Mutation_p.W383*|ESR1_uc010kip.3_Nonsense_Mutation_p.W382*|ESR1_uc003qon.4_Nonsense_Mutation_p.W383*|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Nonsense_Mutation_p.W383*|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Nonsense_Mutation_p.W98*|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Nonsense_Mutation_p.W164*|ESR1_uc010kit.1_Intron|ESR1_uc011eey.2_Nonsense_Mutation_p.W120*	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	383	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GAATGTGCCTGGCTAGAGATC	0.488													3	133					0	0	1	0	0	A	152332842	G	A	152332842	4	1	114	1	0	0	0	0	0	1	0	0	5256	1357	47	2	1166	2	ESR1	6	152332842	Nonsense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		152332842	18782225	4	2000											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	70					0	0	1	0	0	T	140453136	A	T	140453136	3	4	114	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UU-01A-11D-A22D-08		140453136	18685527	5	2001											
RNF170	81790	broad.mit.edu	37	chr8	42716925	42716925	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatctccggttataatcaTtaatatcctgatgcaatctc	5	9	3	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr8:42716925T>G	uc003xpo.3	-	5	947	c.470A>C	c.(469-471)aAt>aCt	p.N157T	RNF170_uc011lcx.2_Intron|RNF170_uc003xpp.3_Missense_Mutation_p.N61T|RNF170_uc003xpn.3_Missense_Mutation_p.N61T|RNF170_uc010lxp.3_Missense_Mutation_p.N73T|RNF170_uc003xpm.3_Missense_Mutation_p.N157T|RNF170_uc003xpq.4_Missense_Mutation_p.N157T	NM_001160223	NP_001153697	Q96K19	RN170_HUMAN	Homo sapiens ring finger protein 170 (RNF170), transcript variant 1, mRNA.	157						integral to membrane	zinc ion binding			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTTATAATCATTAATATCCTG	0.348													16	64					0	0	1	0	0	G	42716925	T	G	42716925	3	3	114	1	0	0	0	0	1	0	0	0	13462	1493	52	5	525	5	RNF170	8	42716925	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08		42716925	103647097	6	2002											
GOLGA2	2801	broad.mit.edu	37	chr9	131019439	131019439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgggcgctcccggggGttctgcatctcacgaagcag	14	13	2	0	rs150141269	byFrequency	TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr9:131019439G>A	uc011maw.2	-	25	2929	c.2916C>T	c.(2914-2916)aaC>aaT	p.N972N	GOLGA2_uc010mxw.3_Silent_p.N295N|GOLGA2_uc004buh.3_Silent_p.N322N|DQ583972_uc022boe.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	972						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCTCCCGGGGGTTCTGCATCT	0.592													3	97					0	0	1	0	0	A	131019439	G	A	131019439	2	1	114	1	0	0	0	0	0	0	0	1	6552	1252	44	2		2	GOLGA2	9	131019439	Silent	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		131019439	10193992	7	2003											
ATG2A	23130	broad.mit.edu	37	chr11	64677164	64677164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctctcaccatgtaggtcgGagcaggtgagttccaggtgg	16	9	1	1			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr11:64677164G>A	uc001obx.3	-	13	2211	c.2096C>T	c.(2095-2097)tCc>tTc	p.S699F		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	699							protein binding	p.S699F(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGTAGGTCGGAGCAGGTGAG	0.632													5	115					0	0	1	0	0	A	64677164	G	A	64677164	3	1	114	1	0	0	0	0	1	0	0	0	1093	1174	41	2	3832	2	ATG2A	11	64677164	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		64677164	70329352	8	2004											
UTP14C	9724	broad.mit.edu	37	chr13	52602984	52602985	+	Frame_Shift_Del	DEL	AG	AG	-													gaatctggctttgagccaccAggaagaactagtggatttgc							TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:52602984_52602985delAG	uc001vgb.3	+	1	606_607	c.44_45delAG	c.(43-45)cagfs	p.Q15fs	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Frame_Shift_Del_p.Q15fs	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	15					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTGAGCCACCAGGAAGAACTAG	0.47													25	46	---	---	---	---						-	52602985	AG	-	52602984	7	5	114	1	0	1	0	1	0	0	0	0	17093	188	7	0	46	0	UTP14C	13	52602984	Frame_Shift_Del	DEL	AG	TCGA-DJ-A3UU-01A-11D-A22D-08		52602984	62566894	9	2005											
GPC6	10082	broad.mit.edu	37	chr13	95055374	95055374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcagtggatcccgaccGgagagaggtggactcttctg	14	13	2	1			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:95055374G>A	uc001vlt.3	+	8	2203	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	524						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GATCCCGACCGGAGAGAGGTG	0.597													3	122					0	0	1	0	0	A	95055374	G	A	95055374	3	1	114	1	0	0	0	0	1	0	0	0	6602	1116	39	1	1605	1	GPC6	13	95055374	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08	42452390	95055374	20114504	10	2006											
ADCY9	115	broad.mit.edu	37	chr16	4164430	4164430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcggctatgattcttggCatcacggaatgaatcatcct	8	10	4	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:4164430C>A	uc002cvx.3	-	1	1553	c.1014G>T	c.(1012-1014)atG>atT	p.M338I		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	338					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGATTCTTGGCATCACGGAAT	0.502													4	169					0	0	1	0	0	A	4164430	C	A	4164430	3	1	114	1	0	0	0	0	1	0	0	0	301	710	25	4	3087	4	ADCY9	16	4164430	Missense_Mutation	SNP	C	TCGA-DJ-A3UU-01A-11D-A22D-08		4164430	86190323	11	2007											
TAT	6898	broad.mit.edu	37	chr16	71607459	71607459	+	Frame_Shift_Del	DEL	C	C	-													caccttagcttctaggggtgCctcaggacagtggtaataag							TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:71607459delC	uc002fap.2	-	3	490	c.391delG	c.(391-393)gcafs	p.A131fs		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	131					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TCTAGGGGTGCCTCAGGACAG	0.438													2	4	---	---	---	---						-	71607459	C	-	71607459	7	5	114	1	0	1	0	1	0	0	0	0	15587	739	26	0	1009	0	TAT	16	71607459	Frame_Shift_Del	DEL	C	TCGA-DJ-A3UU-01A-11D-A22D-08	67443029	71607459	18747294	12	2008											
TRPV3	162514	broad.mit.edu	37	chr17	3458080	3458080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcaggatggcagggTtcccactgggggcagcaact	15	11	1	0			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr17:3458080T>C	uc002fvr.2	-	1	387	c.65A>G	c.(64-66)aAc>aGc	p.N22S	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.N22S|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Missense_Mutation_p.N22S	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	22						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGGCAGGGTTCCCACTGGG	0.622													3	70					0	0	1	0	0	C	3458080	T	C	3458080	3	2	114	1	0	0	0	0	1	0	0	0	16594	1725	60	3	2375	3	TRPV3	17	3458080	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08		3458080	77737130	13	2009											
PDHA1	5160	broad.mit.edu	37	chrX	19369470	19369470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacagcctaccgggctcaCggctttactttcacccgggg	10	15	3	0			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:19369470C>T	uc004czh.4	+	4	622	c.477C>T	c.(475-477)caC>caT	p.H159H	PDHA1_uc011mjc.2_Silent_p.H128H|PDHA1_uc004czg.4_Silent_p.H121H|PDHA1_uc011mjd.2_Silent_p.H121H	NM_001173454	NP_001166925	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	121					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	ACCGGGCTCACGGCTTTACTT	0.517													11	206					0	0	1	0	0	T	19369470	C	T	19369470	2	4	114	1	0	0	0	0	0	0	0	1	11664	535	19	1		1	PDHA1	23	19369470	Silent	SNP	C	TCGA-DJ-A3UU-01A-11D-A22D-08		19369470	135901090	14	2010											
RAB41	347517	broad.mit.edu	37	chrX	69502665	69502665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaggcaactgttggaaTtgacttcttgtctaagacca	9	8	2	2			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:69502665T>C	uc010nkv.3	+	2	240	c.194T>C	c.(193-195)aTt>aCt	p.I65T		NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	Homo sapiens RAB41, member RAS oncogene family (RAB41), mRNA.	66					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						ACTGTTGGAATTGACTTCTTG	0.433													7	201					0	0	1	0	0	C	69502665	T	C	69502665	3	2	114	1	0	0	0	0	1	0	0	0	12943	1493	52	3	204	3	RAB41	23	69502665	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08	50133195	69502665	85767895	15	2011											
ALG13	79868	broad.mit.edu	37	chrX	110952238	110952238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaatcaggaaggcttgtGtctcatatatgagggaaaat	12	4	2	1			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:110952238G>A	uc011msy.2	+	4	897	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	ALG13_uc011msw.2_Missense_Mutation_p.V188I|ALG13_uc011msx.2_Missense_Mutation_p.V162I|ALG13_uc011msz.2_Missense_Mutation_p.V188I|ALG13_uc011mta.2_Missense_Mutation_p.V162I|ALG13_uc011mtb.2_Missense_Mutation_p.V162I	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	266	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						GAAGGCTTGTGTCTCATATAT	0.398													7	6					0	0	1	0	0	A	110952238	G	A	110952238	3	1	114	1	0	0	0	0	1	0	0	0	515	1377	48	2	956	2	ALG13	23	110952238	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08	41449573	110952238	44318322	16	2012											
SLC6A9	6536	broad.mit.edu	37	chr1	44482733	44482733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgacctgttctggggaagAgggggccacaggtccatgag	16	9	1	3			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:44482733A>G	uc001cll.3	-	0	265	c.73T>C	c.(73-75)Tct>Cct	p.S25P	SLC6A9_uc009vxe.2_5'Flank|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Missense_Mutation_p.S25P|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.S25P|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	25						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCTGGGGAAGAGGGGGCCACA	0.672													3	51					0	0	1	0	0	G	44482733	A	G	44482733	3	3	115	1	0	0	0	0	1	0	0	0	14691	304	11	3	2103	3	SLC6A9	1	44482733	Missense_Mutation	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08		44482733	204767888	1	2013											
OR6K6	128371	broad.mit.edu	37	chr1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgttatccttgctcccTttttcaaccccatcatctat	2	14	3	0			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:158725536T>C	uc001fsw.1	+	0	931	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438													3	100					0	0	1	0	0	C	158725536	T	C	158725536	3	2	115	1	0	0	0	0	1	0	0	0	11204	1609	56	3	933	3	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-DJ-A3UW-01A-11D-A22D-08	114242803	158725536	90525085	2	2014											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516021	241516021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggacctgtctcagggatCcagcctgacccggcccgtgg	14	16	1	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr2:241516021C>T	uc002vzi.3	+	8	1580	c.887C>T	c.(886-888)tCc>tTc	p.S296F	RNPEPL1_uc002vzj.3_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	296					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TCTCAGGGATCCAGCCTGACC	0.662													9	41					0	0	1	0	0	T	241516021	C	T	241516021	3	4	115	1	0	0	0	0	1	0	0	0	13510	855	30	2	913	2	RNPEPL1	2	241516021	Missense_Mutation	SNP	C	TCGA-DJ-A3UW-01A-11D-A22D-08		241516021	1683352	3	2015											
HRH1	3269	broad.mit.edu	37	chr3	11301013	11301013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaagtggtcactgggccGtcctctctgcctcttttggc	11	14	3	0	rs139664451	byFrequency	TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr3:11301013G>A	uc010hdr.3	+	1	632	c.290G>A	c.(289-291)cGt>cAt	p.R97H	HRH1_uc010hds.3_Missense_Mutation_p.R97H|HRH1_uc010hdt.3_Missense_Mutation_p.R97H|HRH1_uc003bwb.4_Missense_Mutation_p.R97H|HRH1_uc021wtb.1_Missense_Mutation_p.R97H	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCACTGGGCCGTCCTCTCTGC	0.552													5	218					0	0	1	0	0	A	11301013	G	A	11301013	3	1	115	1	0	0	0	0	1	0	0	0	7355	1145	40	1	292	1	HRH1	3	11301013	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		11301013	186721417	4	2016											
SEMA6A	57556	broad.mit.edu	37	chr5	115783144	115783144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctggggtggggagggccGtcaggtccaggtggtgctgg	21	8	2	0			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr5:115783144G>A	uc003krx.4	-	19	3018	c.2309C>T	c.(2308-2310)aCg>aTg	p.T770M	SEMA6A_uc010jck.3_Missense_Mutation_p.T753M|SEMA6A_uc011cwe.2_Missense_Mutation_p.T132M|SEMA6A_uc003krv.4_Missense_Mutation_p.T180M|SEMA6A_uc003krw.4_Missense_Mutation_p.T230M|SEMA6A_uc010jcj.3_Missense_Mutation_p.T297M	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	753					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGGAGGGCCGTCAGGTCCAG	0.637													5	243					0	0	1	0	0	A	115783144	G	A	115783144	3	1	115	1	0	0	0	0	1	0	0	0	14039	1145	40	1	838	1	SEMA6A	5	115783144	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		115783144	65132116	5	2017											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	68					0	0	1	0	0	T	140453136	A	T	140453136	3	4	115	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08		140453136	18685527	6	2018											
TMPRSS4	56649	broad.mit.edu	37	chr11	117984149	117984149	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttcccactcactttctcAggtgagaagcagggcccaag	10	13	2	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr11:117984149A>G	uc021qrd.1	+	9	1201	c.910_splice	c.e9+1	p.G304_splice	TMPRSS4_uc009yzu.3_Splice_Site|TMPRSS4_uc021qre.1_Splice_Site_p.G299_splice|TMPRSS4_uc010rxo.2_Splice_Site_p.G302_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.G264_splice|TMPRSS4_uc010rxq.2_Splice_Site_p.G157_splice|TMPRSS4_uc010rxr.2_Splice_Site_p.G279_splice|TMPRSS4_uc010rxt.2_Splice_Site_p.G279_splice	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	304	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TCACTTTCTCAGGTGAGAAGC	0.517													3	81					0	0	1	0	0	G	117984149	A	G	117984149	5	3	115	1	0	0	0	0	0	0	1	0	16246	202	7	3	943	3	TMPRSS4	11	117984149	Splice_Site	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08		117984149	17022367	7	2019											
ITPR2	3709	broad.mit.edu	37	chr12	26809335	26809335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcatgtggagcatgaggCgacagaaggacgctcggagg	18	8	0	2			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr12:26809335C>T	uc001rhg.3	-	18	2756	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	780					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.C779*(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GAGCATGAGGCGACAGAAGGA	0.562													10	63					0	0	1	0	0	T	26809335	C	T	26809335	3	4	115	1	0	0	0	0	1	0	0	0	7921	768	27	1	5922	1	ITPR2	12	26809335	Missense_Mutation	SNP	C	TCGA-DJ-A3UW-01A-11D-A22D-08		26809335	107042560	8	2020											
DUOX1	53905	broad.mit.edu	37	chr15	45427465	45427465	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggaccccgagaccggacgGagtcccagcaatccccggga	14	15	0	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr15:45427465G>A	uc001zus.1	+	5	817	c.471G>A	c.(469-471)cgG>cgA	p.R157R	DUOX1_uc001zut.1_Silent_p.R157R|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	157	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGACCGGACGGAGTCCCAGCA	0.726													6	14					0	0	1	0	0	A	45427465	G	A	45427465	2	1	115	1	0	0	0	0	0	0	0	1	4800	1161	41	2		2	DUOX1	15	45427465	Silent	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		45427465	57103927	9	2021											
FHOD1	29109	broad.mit.edu	37	chr16	67264231	67264231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacctcggtgatcatgcGtccccgggtcttgttgcgct	11	15	2	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr16:67264231G>A	uc002esl.3	-	18	3149	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	FHOD1_uc010ced.3_Missense_Mutation_p.R820C	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	1013	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTGATCATGCGTCCCCGGGTC	0.582													3	66					0	0	1	0	0	A	67264231	G	A	67264231	3	1	115	1	0	0	0	0	1	0	0	0	5882	1145	40	1	473	1	FHOD1	16	67264231	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		67264231	23090522	10	2022											
CBX2	84733	broad.mit.edu	37	chr17	77755652	77755652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccagcacccccttggcGtagggggcaggcagagggag	16	14	0	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr17:77755652G>A	uc002jxb.2	+	3	398	c.340G>A	c.(340-342)Gta>Ata	p.V114I	CBX2_uc002jxc.3_Intron	NM_032647	NP_116036	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 2, mRNA.	0	Ser-rich.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.V114L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCCCCTTGGCGTAGGGGGCAG	0.637													4	61					0	0	1	0	0	A	77755652	G	A	77755652	3	1	115	1	0	0	0	0	1	0	0	0	2718	1145	40	1	354	1	CBX2	17	77755652	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		77755652	3439558	11	2023											
KIAA1683	80726	broad.mit.edu	37	chr19	18368263	18368263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaagacactgccccgggGccctcagtgccctggcccat	11	19	1	1			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:18368263G>A	uc010ebn.2	-	3	4047	c.3831C>T	c.(3829-3831)ggC>ggT	p.G1277G	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Silent_p.G1090G|KIAA1683_uc010xqe.1_Silent_p.G1044G|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCCCCGGGGCCCTCAGTGC	0.687													4	22					0	0	1	0	0	A	18368263	G	A	18368263	2	1	115	1	0	0	0	0	0	0	0	1	8251	1190	42	2		2	KIAA1683	19	18368263	Silent	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		18368263	40760720	12	2024											
SHANK1	50944	broad.mit.edu	37	chr19	51171483	51171483	+	Frame_Shift_Del	DEL	C	C	-													ggcgcgcctcattctgccagCccccctccctccgggccgcc							TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:51171483delC	uc002psx.1	-	21	3753	c.3734delG	c.(3733-3735)ggcfs	p.G1245fs	SHANK1_uc002psw.1_Frame_Shift_Del_p.G629fs	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1245					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATTCTGCCAGCCCCCCTCCCT	0.796													2	4	---	---	---	---						-	51171483	C	-	51171483	7	5	115	1	0	1	0	1	0	0	0	0	14264	739	26	0	2759	0	SHANK1	19	51171483	Frame_Shift_Del	DEL	C	TCGA-DJ-A3UW-01A-11D-A22D-08	32803220	51171483	7957500	13	2025											
PKLR	5313	broad.mit.edu	37	chr1	155263298	155263298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgacagcatgatgcaGtcagccccatccagcacagc	8	17	1	2			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr1:155263298G>A	uc001fkb.4	-	7	1239	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D	PKLR_uc001fka.4_Silent_p.D369D	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	400					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCATGATGCAGTCAGCCCCAT	0.582													3	71					0	0	1	0	0	A	155263298	G	A	155263298	2	1	116	1	0	0	0	0	0	0	0	1	11976	1020	36	2		2	PKLR	1	155263298	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		155263298	93987323	1	2026											
GPR35	2859	broad.mit.edu	37	chr2	241569925	241569925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctacctgcccctggccGtggtggtcttctgctccctg	11	15	3	0	rs146267919		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr2:241569925G>A	uc010fzi.2	+	5	1521	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	GPR35_uc010fzh.2_Missense_Mutation_p.V217M|GPR35_uc021vze.1_Missense_Mutation_p.V186M|GPR35_uc002vzs.2_Missense_Mutation_p.V186M	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	186						integral to plasma membrane	G-protein coupled receptor activity	p.R217H(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCCCCTGGCCGTGGTGGTCTT	0.662													3	83					0	0	1	0	0	A	241569925	G	A	241569925	3	1	116	1	0	0	0	0	1	0	0	0	6690	1145	40	1	558	1	GPR35	2	241569925	Missense_Mutation	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		241569925	1629448	2	2027											
CACNA1D	776	broad.mit.edu	37	chr3	53700562	53700562	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggacagatgtgctctactgGgtaagtaccctggggagaga	15	7	1	2			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr3:53700562G>T	uc003dgu.4	+	7	1279	c.1116_splice	c.e7+1	p.W372_splice	CACNA1D_uc003dgv.4_Splice_Site_p.W372_splice|CACNA1D_uc003dgy.4_Splice_Site_p.W372_splice|CACNA1D_uc003dgw.4_Splice_Site_p.W19_splice	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 1, mRNA.	372					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCTCTACTGGGTAAGTACCC	0.502													6	234					0	0	1	0	0	T	53700562	G	T	53700562	5	4	116	1	0	0	0	0	0	0	1	0	2541	1246	43	4	1142	4	CACNA1D	3	53700562	Splice_Site	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		53700562	144321868	3	2028											
AGPAT9	84803	broad.mit.edu	37	chr4	84465712	84465712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacaatacgaattgaaaaAggaaccccaaaggagtcgat	9	9	0	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr4:84465712A>G	uc003how.3	+	2	383	c.165A>G	c.(163-165)aaA>aaG	p.K55K	AGPAT9_uc003hox.3_Silent_p.K55K|AGPAT9_uc003hoy.3_Silent_p.K55K	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	55					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GAATTGAAAAAGGAACCCCAA	0.343													3	185					0	0	1	0	0	G	84465712	A	G	84465712	2	3	116	1	0	0	0	0	0	0	0	1	392	69	3	3		3	AGPAT9	4	84465712	Silent	SNP	A	TCGA-DJ-A3UX-01A-11D-A22D-08		84465712	106688564	4	2029											
ADH7	131	broad.mit.edu	37	chr4	100350697	100350697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcacgcttaccttaatgcGaacttctttagtctttggtg	8	10	3	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr4:100350697G>A	uc021xqj.1	-	1	202	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	ADH7_uc003huv.2_Missense_Mutation_p.R50C	NM_001166504	NP_001159976	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 1, mRNA.	50					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ACCTTAATGCGAACTTCTTTA	0.403													6	23					0	0	1	0	0	A	100350697	G	A	100350697	3	1	116	1	0	0	0	0	1	0	0	0	313	1058	37	1	1044	1	ADH7	4	100350697	Missense_Mutation	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08	15884985	100350697	90803579	5	2030											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	104					0	0	1	0	0	T	140453136	A	T	140453136	3	4	116	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UX-01A-11D-A22D-08		140453136	18685527	6	2031											
EPPK1	83481	broad.mit.edu	37	chr8	144941254	144941254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctcttgcgtgttcggGtccacaaaccgtttcctcat	7	14	2	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr8:144941254G>A	uc003zaa.1	-	0	6181	c.6168C>T	c.(6166-6168)gaC>gaT	p.D2056D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2056						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGTGTTCGGGTCCACAAACC	0.587													3	76					0	0	1	0	0	A	144941254	G	A	144941254	2	1	116	1	0	0	0	0	0	0	0	1	5190	1252	44	2		2	EPPK1	8	144941254	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		144941254	1422768	7	2032											
NPM3	10360	broad.mit.edu	37	chr10	103542065	103542065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagagcccgacttcaggCggaaggttacaggtggttgg	17	9	1	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr10:103542065C>A	uc001ktt.3	-	3	391	c.368G>T	c.(367-369)cGc>cTc	p.R123L	FGF8_uc021pxg.1_5'Flank	NM_006993	NP_008924	O75607	NPM3_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 3 (NPM3), mRNA.	123							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CGACTTCAGGCGGAAGGTTAC	0.602													7	29					0	0	1	0	0	A	103542065	C	A	103542065	3	1	116	1	0	0	0	0	1	0	0	0	10589	768	27	4	176	4	NPM3	10	103542065	Missense_Mutation	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08		103542065	31992682	8	2033											
PHRF1	57661	broad.mit.edu	37	chr11	608072	608072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcccgaaggcccagacGgtgcaggctgtgcgctgcgt	15	13	0	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr11:608072G>A	uc001lqe.3	+	13	2747	c.2616G>A	c.(2614-2616)acG>acA	p.T872T	PHRF1_uc010qwc.2_Silent_p.T871T|PHRF1_uc010qwd.2_Silent_p.T870T|PHRF1_uc010qwe.2_Silent_p.T868T|PHRF1_uc009ybz.1_Silent_p.T662T|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	872							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGGCCCAGACGGTGCAGGCTG	0.657													4	204					0	0	1	0	0	A	608072	G	A	608072	2	1	116	1	0	0	0	0	0	0	0	1	11861	1103	39	1		1	PHRF1	11	608072	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		608072	134398444	9	2034											
TECTA	7007	broad.mit.edu	37	chr11	121000902	121000902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggaggtggggccctggCggacctatgacttctgccgt	16	11	1	1	rs138696978		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr11:121000902C>T	uc010rzo.2	+	8	2923	c.2923C>T	c.(2923-2925)Cgg>Tgg	p.R975W		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	975					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGCCCTGGCGGACCTATGA	0.597													3	97					0	0	1	0	0	T	121000902	C	T	121000902	3	4	116	1	0	0	0	0	1	0	0	0	15744	759	27	1	2957	1	TECTA	11	121000902	Missense_Mutation	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08	120392830	121000902	14005614	10	2035											
STAB2	55576	broad.mit.edu	37	chr12	104107531	104107531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaggctacacgggtgatGgcattgtgtgcctgggtagg	17	7	0	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr12:104107531G>T	uc001tjw.3	+	41	4708	c.4522G>T	c.(4522-4524)Ggc>Tgc	p.G1508C	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1508	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACGGGTGATGGCATTGTGTG	0.517													72	334					0	0	1	0	0	T	104107531	G	T	104107531	3	4	116	1	0	0	0	0	1	0	0	0	15237	1348	47	4	4688	4	STAB2	12	104107531	Missense_Mutation	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		104107531	29744364	11	2036											
CDH24	64403	broad.mit.edu	37	chr14	23523469	23523469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtcccccaggtctgggtCctgggcccggagccggccca	15	16	1	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr14:23523469C>T	uc001wil.3	-	5	1113	c.853G>A	c.(853-855)Gac>Aac	p.D285N	CDH24_uc010akf.3_Missense_Mutation_p.D285N|CDH24_uc001win.3_Missense_Mutation_p.D285N	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	285	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGTCTGGGTCCTGGGCCCGG	0.632													6	263					0	0	1	0	0	T	23523469	C	T	23523469	3	4	116	1	0	0	0	0	1	0	0	0	3109	855	30	2	1638	2	CDH24	14	23523469	Missense_Mutation	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08		23523469	83826071	12	2037											
LTB4R	1241	broad.mit.edu	37	chr14	24785074	24785074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtattgctcactgctcccTttttccttcacttcctggcc	5	17	2	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr14:24785074T>C	uc001wos.3	+	1	538	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	LTB4R_uc010alp.3_Missense_Mutation_p.F73L|LTB4R_uc001wou.3_Missense_Mutation_p.F73L|LTB4R_uc021rrq.1_Missense_Mutation_p.F73L	NM_001143919	NP_858043	Q15722	LT4R1_HUMAN	Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 2, mRNA.	73					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACTGCTCCCTTTTTCCTTCA	0.582													3	193					0	0	1	0	0	C	24785074	T	C	24785074	3	2	116	1	0	0	0	0	1	0	0	0	9071	1609	56	3	219	3	LTB4R	14	24785074	Missense_Mutation	SNP	T	TCGA-DJ-A3UX-01A-11D-A22D-08	1261605	24785074	82564466	13	2038											
HAPLN3	145864	broad.mit.edu	37	chr15	89424649	89424649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcaatgacctcacagcgGtaacgcccatagtcctccag	8	16	2	1			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr15:89424649G>A	uc002bnd.3	-	3	699	c.618C>T	c.(616-618)taC>taT	p.Y206Y	HAPLN3_uc002bnc.3_Silent_p.Y144Y|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	144	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTCACAGCGGTAACGCCCAT	0.617													4	141					0	0	1	0	0	A	89424649	G	A	89424649	2	1	116	1	0	0	0	0	0	0	0	1	6956	1256	44	2		2	HAPLN3	15	89424649	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		89424649	13106743	14	2039											
KSR1	8844	broad.mit.edu	37	chr17	25909679	25909679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggtccacaggaggggaGcacaaggaggactccagttg	15	9	1	0			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr17:25909679G>A	uc010crg.3	+	4	562	c.117G>A	c.(115-117)gaG>gaA	p.E39E	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	174					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAGGAGGGGAGCACAAGGAGG	0.612													3	93					0	0	1	0	0	A	25909679	G	A	25909679	2	1	116	1	0	0	0	0	0	0	0	1	8581	962	34	2		2	KSR1	17	25909679	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		25909679	55285531	15	2040											
CHD6	84181	broad.mit.edu	37	chr20	40118565	40118565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggggcgataatgagaaaAgggccgtggattcctctcag	15	7	1	2			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr20:40118565A>G	uc002xka.1	-	11	1711	c.1533T>C	c.(1531-1533)ccT>ccC	p.P511P	CHD6_uc002xkd.2_Silent_p.P489P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	511	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAATGAGAAAAGGGCCGTGGA	0.488													3	163					0	0	1	0	0	G	40118565	A	G	40118565	2	3	116	1	0	0	0	0	0	0	0	1	3329	59	3	3		3	CHD6	20	40118565	Silent	SNP	A	TCGA-DJ-A3UX-01A-11D-A22D-08		40118565	22906955	16	2041											
C3orf15	89876	broad.mit.edu	37	chr3	119469814	119469814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcggaaacatattcttgCagcccatcagatcatccaca	6	13	3	1			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr3:119469814C>T	uc003ede.4	+	16	2251	c.2174C>T	c.(2173-2175)gCa>gTa	p.A725V	C3orf15_uc010hqz.3_Missense_Mutation_p.A663V|C3orf15_uc011bjd.2_Missense_Mutation_p.A599V|C3orf15_uc011bje.2_Missense_Mutation_p.A705V|C3orf15_uc003edg.4_Non-coding_Transcript|C3orf15_uc003edh.4_Non-coding_Transcript	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	561						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CATATTCTTGCAGCCCATCAG	0.413													3	54					0	0	1	0	0	T	119469814	C	T	119469814	3	4	117	1	0	0	0	0	1	0	0	0	2209	710	25	2	2240	2	C3orf15	3	119469814	Missense_Mutation	SNP	C	TCGA-DJ-A3UY-01A-21D-A22D-08		119469814	78552616	1	2042											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				20	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	117	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UY-01A-21D-A22D-08		140453136	18685527	2	2043											
TUBGCP4	27229	broad.mit.edu	37	chr15	43678506	43678506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaacaggtggtggatcGcattcgcagcactgtggctg	14	9	0	1			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr15:43678506G>A	uc001zro.3	+	8	1232	c.992G>A	c.(991-993)cGc>cAc	p.R331H	TUBGCP4_uc001zrn.3_Missense_Mutation_p.R331H|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	331					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGGTGGATCGCATTCGCAGC	0.368													23	78					0	0	1	0	0	A	43678506	G	A	43678506	3	1	117	1	0	0	0	0	1	0	0	0	16765	1087	38	1	1026	1	TUBGCP4	15	43678506	Missense_Mutation	SNP	G	TCGA-DJ-A3UY-01A-21D-A22D-08		43678506	58852886	3	2044											
FRMD5	84978	broad.mit.edu	37	chr15	44198149	44198149	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcataatccccaatctccGctttcaaaaggaaggtggaa	8	10	3	0			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr15:44198149G>T	uc001ztl.3	-	6	605	c.428_splice	c.e6-1	p.A143_splice	FRMD5_uc001ztj.1_Splice_Site|FRMD5_uc001ztk.1_Splice_Site_p.A54_splice|FRMD5_uc001ztm.3_Splice_Site|FRMD5_uc001ztn.3_Splice_Site	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	143	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CCCAATCTCCGCTTTCAAAAG	0.418													3	36					0	0	1	0	0	T	44198149	G	T	44198149	5	4	117	1	0	0	0	0	0	0	1	0	6053	1101	38	4	1320	4	FRMD5	15	44198149	Splice_Site	SNP	G	TCGA-DJ-A3UY-01A-21D-A22D-08	519643	44198149	58333243	4	2045											
MYOM1	8736	broad.mit.edu	37	chr18	3067403	3067403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtatttgcccgagtcagCggtgctcacgccgttgatgg	13	13	2	1			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr18:3067403C>T	uc002klp.3	-	37	5249	c.4915G>A	c.(4915-4917)Gct>Act	p.A1639T	MYOM1_uc002klq.3_Missense_Mutation_p.A1543T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1639	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCGAGTCAGCGGTGCTCACG	0.587													4	100					0	0	1	0	0	T	3067403	C	T	3067403	3	4	117	1	0	0	0	0	1	0	0	0	10091	768	27	1	146	1	MYOM1	18	3067403	Missense_Mutation	SNP	C	TCGA-DJ-A3UY-01A-21D-A22D-08		3067403	75009845	5	2046											
PXK	54899	broad.mit.edu	37	chr3	58395861	58395861	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatagtgaagagcattcagcGaagtacagcaactccaataa	8	8	1	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:58395861G>A	uc003djz.1	+	15	1539	c.1440G>A	c.(1438-1440)gcG>gcA	p.A480A	PXK_uc003djx.1_Silent_p.A480A|PXK_uc003dka.1_Silent_p.A480A|PXK_uc003dkb.1_Silent_p.A397A|PXK_uc003dkc.1_Silent_p.A463A|PXK_uc011bfe.1_Silent_p.A447A|PXK_uc010hnj.1_Silent_p.A447A|PXK_uc003dkd.1_Silent_p.A343A|PXK_uc010hnk.1_Silent_p.A254A	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	480	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGCATTCAGCGAAGTACAGCA	0.433													33	41					0	0	1	0	0	A	58395861	G	A	58395861	2	1	118	1	0	0	0	0	0	0	0	1	12849	1045	37	1		1	PXK	3	58395861	Silent	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		58395861	139626569	1	2047											
MYLK	4638	broad.mit.edu	37	chr3	123345699	123345699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccatgtacttcttcatcCggtccttggagagtttcttg	9	10	3	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:123345699C>T	uc003ego.3	-	30	5486	c.5204G>A	c.(5203-5205)cGg>cAg	p.R1735Q	MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Missense_Mutation_p.R170Q|MYLK_uc011bjv.2_Missense_Mutation_p.R535Q|MYLK_uc011bjw.2_Missense_Mutation_p.R1735Q|MYLK_uc003egp.3_Missense_Mutation_p.R1666Q|MYLK_uc003egq.3_Missense_Mutation_p.R1684Q|MYLK_uc003egr.3_Missense_Mutation_p.R1615Q|MYLK_uc003egs.3_Missense_Mutation_p.R1559Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1735	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCTTCATCCGGTCCTTGGA	0.493													13	105					0	0	1	0	0	T	123345699	C	T	123345699	3	4	118	1	0	0	0	0	1	0	0	0	10056	652	23	1	556	1	MYLK	3	123345699	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	64949838	123345699	74676731	2	2048											
MED12L	116931	broad.mit.edu	37	chr3	151127118	151127118	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagggctgcagcaagcaCaggtacccacatttgctttg	10	12	0	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:151127118C>T	uc003eyp.3	+	37	5932	c.5803C>T	c.(5803-5805)Cag>Tag	p.Q1935*	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1935	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAAGCACAGGTACCCAC	0.507													6	98					0	0	1	0	0	T	151127118	C	T	151127118	4	4	118	1	0	0	0	0	0	1	0	0	9429	479	17	2	5953	2	MED12L	3	151127118	Nonsense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	27781419	151127118	46895312	3	2049											
GAK	2580	broad.mit.edu	37	chr4	890299	890299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatacaagtctatgatTtctggtgttctatacattgg	9	5	3	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:890299T>C	uc003gbm.4	-	6	889	c.690A>G	c.(688-690)gaA>gaG	p.E230E	GAK_uc003gbn.4_Silent_p.E151E|GAK_uc010ibk.1_Silent_p.E124E|GAK_uc003gbl.4_Silent_p.E94E	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	230	Protein kinase.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGTCTATGATTTCTGGTGTTC	0.453													11	59					0	0	1	0	0	C	890299	T	C	890299	2	2	118	1	0	0	0	0	0	0	0	1	6195	1838	64	3		3	GAK	4	890299	Silent	SNP	T	TCGA-DJ-A3V7-01A-11D-A23M-08		890299	190263977	4	2050											
TLR3	7098	broad.mit.edu	37	chr4	187000075	187000075	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcagctggaaaatctccaaGagcttctattatcaaacaat	5	9	4	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:187000075G>C	uc003iyq.3	+	2	624	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	TLR3_uc011ckz.2_5'Flank	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	175					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAATCTCCAAGAGCTTCTATT	0.313													23	30					0	0	1	0	0	C	187000075	G	C	187000075	3	2	118	1	0	0	0	0	1	0	0	0	15949	943	33	4	529	4	TLR3	4	187000075	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	186109776	187000075	4154201	5	2051											
DMXL1	1657	broad.mit.edu	37	chr5	118506611	118506611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattctcacagtagaacttcGtactttatctactggctatg	7	9	2	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:118506611G>T	uc010jcl.1	+	23	6306	c.6125G>T	c.(6124-6126)cGt>cTt	p.R2042L	DMXL1_uc003ksd.2_Missense_Mutation_p.R2042L|DMXL1_uc021ycw.1_Missense_Mutation_p.R1869L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2042										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAGAACTTCGTACTTTATCT	0.358													43	46					0	0	1	0	0	T	118506611	G	T	118506611	3	4	118	1	0	0	0	0	1	0	0	0	4594	1145	40	4	6219	4	DMXL1	5	118506611	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		118506611	62408649	6	2052											
PCDHB6	56130	broad.mit.edu	37	chr5	140531054	140531054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccctggtaacagaaggcGcgctggacagagagagcaga	14	10	0	4			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:140531054G>A	uc003lir.3	+	0	1216	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	406	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.G405G(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGAAGGCGCGCTGGACAG	0.483													15	161					0	0	1	0	0	A	140531054	G	A	140531054	3	1	118	1	0	0	0	0	1	0	0	0	11546	1087	38	1	1218	1	PCDHB6	5	140531054	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	22024443	140531054	40384206	7	2053											
TNRC18	84629	broad.mit.edu	37	chr7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-													gccgctcttccctctcttgcGggggggcgacagggcgctcg							TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:5401259delG	uc003soi.4	-	13	4976	c.4627delC	c.(4627-4629)cgcfs	p.R1543fs		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1543							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCTCTTGCGGGGGGGCGAC	0.692													2	4	---	---	---	---						-	5401259	G	-	5401259	7	5	118	1	0	1	0	1	0	0	0	0	16336	1116	39	0	4347	0	TNRC18	7	5401259	Frame_Shift_Del	DEL	G	TCGA-DJ-A3V7-01A-11D-A23M-08		5401259	153737404	8	2054											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				48	72					0	0	1	0	0	T	140453136	A	T	140453136	3	4	118	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V7-01A-11D-A23M-08	135051877	140453136	18685527	9	2055											
HSD17B3	3293	broad.mit.edu	37	chr9	99017173	99017173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtggcaatggcctctAgtttttccagcgtccggcta	10	12	2	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr9:99017173A>G	uc004awa.1	-	2	302	c.254T>C	c.(253-255)cTa>cCa	p.L85P	HSD17B3_uc010msc.1_Missense_Mutation_p.L85P	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	85					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AATGGCCTCTAGTTTTTCCAG	0.512													16	26					0	0	1	0	0	G	99017173	A	G	99017173	3	3	118	1	0	0	0	0	1	0	0	0	7385	420	15	3	714	3	HSD17B3	9	99017173	Missense_Mutation	SNP	A	TCGA-DJ-A3V7-01A-11D-A23M-08		99017173	42196258	10	2056											
CPT1A	1374	broad.mit.edu	37	chr11	68542876	68542876	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccgcatagcccagctGgaggctgtcaatggacatga	11	12	1	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr11:68542876G>A	uc001oog.4	-	12	1653	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	CPT1A_uc001oof.4_Nonsense_Mutation_p.Q495*	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	495					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TAGCCCAGCTGGAGGCTGTCA	0.483													51	84					0	0	1	0	0	A	68542876	G	A	68542876	4	1	118	1	0	0	0	0	0	1	0	0	3831	1357	47	2	906	2	CPT1A	11	68542876	Nonsense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		68542876	66463640	11	2057											
RB1	5925	broad.mit.edu	37	chr13	49039407	49039407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcctagttcacccttaCggattcctggagggaacatc	9	11	1	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr13:49039407C>T	uc001vcb.3	+	22	2558	c.2392C>T	c.(2392-2394)Cgg>Tgg	p.R798W		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	798	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R798fs*17(2)|p.R798W(2)|p.L797fs*1(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCACCCTTACGGATTCCTGG	0.408		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			24	161					0	0	1	0	0	T	49039407	C	T	49039407	3	4	118	1	0	0	0	0	1	0	0	0	13098	527	19	1	2482	1	RB1	13	49039407	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		49039407	66130471	12	2058											
ZG16B	124220	broad.mit.edu	37	chr16	2880459	2880459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgctgctgctgctcaCgcttgccctcctggggggcc	14	16	1	0			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr16:2880459C>T	uc002cru.3	+	1	201	c.125C>T	c.(124-126)aCg>aTg	p.T42M		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	42	Poly-Leu.					extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTGCTCACGCTTGCCCTC	0.662													7	5					0	0	1	0	0	T	2880459	C	T	2880459	3	4	118	1	0	0	0	0	1	0	0	0	17669	536	19	1	131	1	ZG16B	16	2880459	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		2880459	87474294	13	2059											
TRIM47	91107	broad.mit.edu	37	chr17	73870808	73870808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacagcatagaaggccaagGcacggtcagcgtattccagg	13	10	1	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:73870808G>A	uc002jpw.3	-	5	1700	c.1673C>T	c.(1672-1674)gCc>gTc	p.A558V	TRIM47_uc002jpv.3_Missense_Mutation_p.A320V	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Homo sapiens tripartite motif containing 47 (TRIM47), mRNA.	558	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding	p.R557C(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGGCCAAGGCACGGTCAGC	0.667													33	56					0	0	1	0	0	A	73870808	G	A	73870808	3	1	118	1	0	0	0	0	1	0	0	0	16519	1203	42	2	247	2	TRIM47	17	73870808	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		73870808	7324402	14	2060											
PEG3	5178	broad.mit.edu	37	chr19	57326078	57326078	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatcttccctatgaagtctCatatgctcattaagggcaga	7	10	4	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:57326078C>A	uc002qnu.2	-	6	4083	c.3732G>T	c.(3730-3732)atG>atT	p.M1244I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M1215I|PEG3_uc002qnv.2_Missense_Mutation_p.M1244I|PEG3_uc002qnw.2_Missense_Mutation_p.M1120I|PEG3_uc002qnx.2_Missense_Mutation_p.M1118I|PEG3_uc010etr.2_Missense_Mutation_p.M1244I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1244					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGAAGTCTCATATGCTCAT	0.498													11	81					0	0	1	0	0	A	57326078	C	A	57326078	3	1	118	1	0	0	0	0	1	0	0	0	11720	826	29	4	1038	4	PEG3	19	57326078	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		57326078	1802905	15	2061											
GCFC1	94104	broad.mit.edu	37	chr21	34123457	34123457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccgctctgcaatgcgaCgttttgcatgctcttgatac	8	14	2	1			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr21:34123457C>T	uc002yqn.3	-	8	1770	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H	GCFC1_uc002yql.3_Missense_Mutation_p.R36H|GCFC1_uc002yqm.3_Missense_Mutation_p.R21H|GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Missense_Mutation_p.R527H	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	527						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TGCAATGCGACGTTTTGCATG	0.463													19	67					0	0	1	0	0	T	34123457	C	T	34123457	3	4	118	1	0	0	0	0	1	0	0	0	6289	536	19	1	1331	1	GCFC1	21	34123457	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		34123457	14006438	16	2062											
F9	2158	broad.mit.edu	37	chrX	138633271	138633271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaacttctaagctcaccCgtgctgagactgtttttcct	6	13	2	1	rs137852237		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:138633271C>A	uc004fas.1	+	5	600	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	F9_uc004fat.1_Missense_Mutation_p.R153S	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	191		Cleavage; by factor XIa.	R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.).|R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TAAGCTCACCCGTGCTGAGAC	0.358													12	126					0	0	1	0	0	A	138633271	C	A	138633271	3	1	118	1	0	0	0	0	1	0	0	0	5351	652	23	4	593	4	F9	23	138633271	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		138633271	16637289	17	2063											
PNMA3	29944	broad.mit.edu	37	chrX	152225805	152225805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcggacaccaattgttcGgctccaagagtgactatatc	11	10	0	2			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:152225805G>A	uc004fhc.2	+	1	729	c.393G>A	c.(391-393)tcG>tcA	p.S131S	PNMA3_uc022cho.1_Silent_p.S131S|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	131					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ccaattgttcggctccaagag	0.532													20	73					0	0	1	0	0	A	152225805	G	A	152225805	2	1	118	1	0	0	0	0	0	0	0	1	12155	1103	39	1		1	PNMA3	23	152225805	Silent	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	13592534	152225805	3044755	18	2064											
TTN	7273	broad.mit.edu	37	chr2	179659202	179659202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctacagcgctgatcactGgttctctcactctggccata	8	14	5	1			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr2:179659202G>T	uc021vsy.1	-	7	1547	c.1322C>A	c.(1321-1323)cCa>cAa	p.P441Q	TTN_uc021vsz.1_Missense_Mutation_p.P441Q|TTN_uc021vta.1_Missense_Mutation_p.P441Q|TTN_uc021vtb.1_Missense_Mutation_p.P441Q|TTN_uc002unb.2_Missense_Mutation_p.P441Q|TTN_uc010frg.1_Missense_Mutation_p.P115Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	441							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGATCACTGGTTCTCTCAC	0.517													22	224					0	0	1	0	0	T	179659202	G	T	179659202	3	4	119	1	0	0	0	0	1	0	0	0	16732	1348	47	4	110086	4	TTN	2	179659202	Missense_Mutation	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		179659202	63540171	1	2065											
SEMA3B	7869	broad.mit.edu	37	chr3	50311051	50311051	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcggtgcccggcgtcgAgggcgacacccacttcgatc	14	15	0	0			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr3:50311051A>T	uc003cyu.3	+	9	1135	c.893A>T	c.(892-894)gAg>gTg	p.E298V	SEMA3B_uc003cyt.3_Missense_Mutation_p.E298V|SEMA3B_uc003cyv.3_Missense_Mutation_p.E186V|SEMA3B_uc003cyw.3_5'UTR|SEMA3B_uc010hli.3_Missense_Mutation_p.E186V|SEMA3B_uc003cyx.3_Missense_Mutation_p.E186V|SEMA3B_uc003cyy.3_5'UTR|SEMA3B_uc011bdo.2_5'UTR	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	299	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCGGCGTCGAGGGCGACACC	0.711											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	69					0	0	1	0	0	T	50311051	A	T	50311051	3	4	119	1	0	0	0	0	1	0	0	0	14025	304	11	5	925	5	SEMA3B	3	50311051	Missense_Mutation	SNP	A	TCGA-DJ-A3VA-01A-11D-A23M-08		50311051	147711379	2	2066											
PDCL2	132954	broad.mit.edu	37	chr4	56428581	56428581	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaacattaccttccagcttGagatttatccctccacattc	4	13	0	1			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr4:56428581G>T	uc003hbb.3	-	4	664	c.561C>A	c.(559-561)ctC>ctA	p.L187L		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	187										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			CTTCCAGCTTGAGATTTATCC	0.323													16	24					0	0	1	0	0	T	56428581	G	T	56428581	2	4	119	1	0	0	0	0	0	0	0	1	11627	1277	45	4		4	PDCL2	4	56428581	Silent	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		56428581	134725695	3	2067											
MAP1B	4131	broad.mit.edu	37	chr5	71492992	71492992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcacccttagaaaagacCcccctgggtgaacgtagtgt	9	13	1	3	rs79516161	byFrequency	TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr5:71492992C>T	uc003kbw.4	+	4	4051	c.3810C>T	c.(3808-3810)acC>acT	p.T1270T	MAP1B_uc010iyw.1_Silent_p.T1287T|MAP1B_uc010iyx.1_Silent_p.T1144T|MAP1B_uc010iyy.1_Silent_p.T1144T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1270						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TAGAAAAGACCCCCCTGGGTG	0.522													44	88					0	0	1	0	0	T	71492992	C	T	71492992	2	4	119	1	0	0	0	0	0	0	0	1	9228	610	22	2		2	MAP1B	5	71492992	Silent	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08		71492992	109422268	4	2068											
TAX1BP1	8887	broad.mit.edu	37	chr7	27856612	27856612	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagccagcctgctcgAaactttagtcggcctgatgg	12	12	1	1			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr7:27856612A>T	uc003szl.3	+	14	2222	c.2040A>T	c.(2038-2040)cgA>cgT	p.R680R	TAX1BP1_uc011jzo.2_Silent_p.R638R|TAX1BP1_uc003szk.3_Silent_p.R638R|TAX1BP1_uc011jzp.2_Silent_p.R481R	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	680					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.R680Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGCCTGCTCGAAACTTTAGTC	0.448													17	116					0	0	1	0	0	T	27856612	A	T	27856612	2	4	119	1	0	0	0	0	0	0	0	1	15591	233	9	5		5	TAX1BP1	7	27856612	Silent	SNP	A	TCGA-DJ-A3VA-01A-11D-A23M-08		27856612	131282051	5	2069											
TRRAP	8295	broad.mit.edu	37	chr7	98543388	98543388	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaaagcatttccgagtgcGggagatgtcccttgtctcca	12	10	1	1			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr7:98543388G>C	uc003upp.3	+	31	4701	c.4492G>C	c.(4492-4494)Ggg>Cgg	p.G1498R	TRRAP_uc011kis.2_Intron|TRRAP_uc003upr.3_Missense_Mutation_p.G1190R	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1498					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCGAGTGCGGGAGATGTCC	0.383													47	79					0	0	1	0	0	C	98543388	G	C	98543388	3	2	119	1	0	0	0	0	1	0	0	0	16598	1131	39	4		4	TRRAP	7	98543388	Missense_Mutation	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08	70686776	98543388	60595275	6	2070											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				34	79					0	0	1	0	0	T	140453136	A	T	140453136	3	4	119	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VA-01A-11D-A23M-08	41909748	140453136	18685527	7	2071											
UQCRB	7381	broad.mit.edu	37	chr8	97243454	97243454	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaaaaaagcaattacTtttgaatttccaattttaga	4	5	0	3			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr8:97243454T>C	uc011lgt.2	-	4		c.652_splice	c.e4+1		UQCRB_uc010mbc.3_Intron|UQCRB_uc022ayx.1_Intron|UQCRB_uc003yhq.4_Intron			P14927	QCR7_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase binding protein (UQCRB), transcript variant 4, non-coding RNA.						aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					AAGCAATTACTTTTGAATTTC	0.294													5	52					0	0	1	0	0	C	97243454	T	C	97243454	5	2	119	1	0	0	0	0	0	0	1	0	17015	1624	56	3		3	UQCRB	8	97243454	Splice_Site	SNP	T	TCGA-DJ-A3VA-01A-11D-A23M-08		97243454	49120568	8	2072											
PPP3R2	5535	broad.mit.edu	37	chr9	104356700	104356700	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagaaaaaggctcatacgatGaggaccagcttcttgtggat	11	7	2	2			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr9:104356700G>C	uc004bbr.3	-	0	584	c.513C>G	c.(511-513)ctC>ctG	p.L171L	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	168							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CTCATACGATGAGGACCAGCT	0.463													9	110					0	0	1	0	0	C	104356700	G	C	104356700	2	2	119	1	0	0	0	0	0	0	0	1	12401	1277	45	4		4	PPP3R2	9	104356700	Silent	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		104356700	36856731	9	2073											
TACC2	10579	broad.mit.edu	37	chr10	123845778	123845778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaagacagtggagtgaaaGctgtttcctctgcagacccc	11	11	1	4			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr10:123845778G>T	uc001lfv.3	+	3	4123	c.3763G>T	c.(3763-3765)Gct>Tct	p.A1255S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A1255S|TACC2_uc010qtv.2_Missense_Mutation_p.A1255S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1255						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGAGTGAAAGCTGTTTCCTC	0.592													46	129					0	0	1	0	0	T	123845778	G	T	123845778	3	4	119	1	0	0	0	0	1	0	0	0	15499	971	34	4	3773	4	TACC2	10	123845778	Missense_Mutation	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		123845778	11688969	10	2074											
TMEM5	10329	broad.mit.edu	37	chr12	64173875	64173876	+	Frame_Shift_Del	DEL	GG	GG	-													tccccgcggggcctcaggaaGggggcggcccccgcgcggga							TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr12:64173875_64173876delGG	uc001srq.1	+	0	239_240	c.135_136delGG	c.(133-138)aaggggfs	p.K45fs	TMEM5_uc001srs.1_5'Flank	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	45						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		gccTCAGGAAGGGGGCGGCCCC	0.743													3	6	---	---	---	---						-	64173876	GG	-	64173875	7	5	119	1	0	1	0	1	0	0	0	0	16171	991	35	0	137	0	TMEM5	12	64173875	Frame_Shift_Del	DEL	GG	TCGA-DJ-A3VA-01A-11D-A23M-08		64173875	69678020	11	2075											
NUFIP1	26747	broad.mit.edu	37	chr13	45517759	45517759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actcttaggagcactgctatCaagaacctggttttctgcca	8	11	3	1			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr13:45517759C>G	uc001uzp.2	-	8	1231	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	397					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GCACTGCTATCAAGAACCTGG	0.358													7	154					0	0	1	0	0	G	45517759	C	G	45517759	3	3	119	1	0	0	0	0	1	0	0	0	10748	826	29	4	306	4	NUFIP1	13	45517759	Missense_Mutation	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08		45517759	69652119	12	2076											
WDR88	126248	broad.mit.edu	37	chr19	33666304	33666304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatatcccatgtcagtgCgaaagatgtgacaggccttt	9	8	1	2			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr19:33666304C>T	uc002nui.3	+	10	1323	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C	TRNA_Thr_uc021usc.1_5'Flank	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	415								p.C415C(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CATGTCAGTGCGAAAGATGTG	0.493													65	138					0	0	1	0	0	T	33666304	C	T	33666304	2	4	119	1	0	0	0	0	0	0	0	1	17332	776	27	1		1	WDR88	19	33666304	Silent	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08		33666304	25462679	13	2077											
SLC40A1	30061	broad.mit.edu	37	chr2	190439928	190439928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacccagtcaccgatgatgGctcccaggaccagaacagac	9	16	1	3	rs28939076		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr2:190439928G>C	uc002uqp.4	-	2	581	c.230C>G	c.(229-231)gCc>gGc	p.A77G	SLC40A1_uc002uqq.2_Missense_Mutation_p.A77G	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	77			A -> D (in HFE4).		anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ACCGATGATGGCTCCCAGGAC	0.493													154	304					0	0	1	0	0	C	190439928	G	C	190439928	3	2	120	1	0	0	0	0	1	0	0	0	14628	1203	42	4	1509	4	SLC40A1	2	190439928	Missense_Mutation	SNP	G	TCGA-DJ-A3VB-01A-11D-A23M-08		190439928	52759445	1	2078											
LRPAP1	4043	broad.mit.edu	37	chr4	3516526	3516526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagcagggcgtgcttctCgcggctgcggctcacacgct	13	16	2	0			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr4:3516526C>T	uc003ghh.4	-	6	1049	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	322	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGTGCTTCTCGCGGCTGCGG	0.662													42	87					0	0	1	0	0	T	3516526	C	T	3516526	3	4	120	1	0	0	0	0	1	0	0	0	8964	893	31	1	117	1	LRPAP1	4	3516526	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		3516526	187637750	2	2079											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				29	48					0	0	1	0	0	T	140453136	A	T	140453136	3	4	120	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VB-01A-11D-A23M-08		140453136	18685527	3	2080											
MCM4	4173	broad.mit.edu	37	chr8	48883923	48883923	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcatctgtcagctcaAtgcgcgcacctctgtcctgg	11	13	5	0			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr8:48883923A>T	uc003xqk.2	+	12	2649	c.1823A>T	c.(1822-1824)aAt>aTt	p.N608I	MCM4_uc003xql.2_Missense_Mutation_p.N608I|MCM4_uc011ldi.2_Missense_Mutation_p.N595I	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	608	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTCAGCTCAATGCGCGCACC	0.498													18	69					0	0	1	0	0	T	48883923	A	T	48883923	3	4	120	1	0	0	0	0	1	0	0	0	9389	101	4	5	1869	5	MCM4	8	48883923	Missense_Mutation	SNP	A	TCGA-DJ-A3VB-01A-11D-A23M-08		48883923	97480099	4	2081											
CCDC60	160777	broad.mit.edu	37	chr12	119916995	119916995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatttctccctcgctaacCgaggctcacgtgtaagtagt	8	12	3	0			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr12:119916995C>T	uc001txe.3	+	3	903	c.438C>T	c.(436-438)acC>acT	p.T146T	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	146										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCTCGCTAACCGAGGCTCACG	0.478													32	43					0	0	1	0	0	T	119916995	C	T	119916995	2	4	120	1	0	0	0	0	0	0	0	1	2831	639	23	1		1	CCDC60	12	119916995	Silent	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		119916995	13934900	5	2082											
MYCBP2	23077	broad.mit.edu	37	chr13	77763175	77763175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcactgccatcactggTtggaagtctaaaggcagtag	12	8	2	1			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr13:77763175T>C	uc021rks.1	-	29	4429	c.4162A>G	c.(4162-4164)Acc>Gcc	p.T1388A	MYCBP2_uc010aev.3_Missense_Mutation_p.T754A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCACTGGTTGGAAGTCTA	0.343													29	42					0	0	1	0	0	C	77763175	T	C	77763175	3	2	120	1	0	0	0	0	1	0	0	0	10018	1725	60	3	10090	3	MYCBP2	13	77763175	Missense_Mutation	SNP	T	TCGA-DJ-A3VB-01A-11D-A23M-08		77763175	37406703	6	2083											
GRK1	6011	broad.mit.edu	37	chr13	114324127	114324127	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatgaacggaggtgacatCaggtaagggctgggccagag	16	7	2	3			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr13:114324127C>T	uc010tkf.2	+	1	930	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	275	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAGGTGACATCAGGTAAGGGC	0.597													7	139					0	0	1	0	0	T	114324127	C	T	114324127	2	4	120	1	0	0	0	0	0	0	0	1	6790	816	29	2		2	GRK1	13	114324127	Silent	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08	36560952	114324127	845751	7	2084											
GPR139	124274	broad.mit.edu	37	chr16	20043241	20043241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcggctgccatggtgCggaaccgcttgctgatgaag	17	10	0	2			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr16:20043241C>T	uc002dgu.1	-	1	1040	c.878G>A	c.(877-879)cGc>cAc	p.R293H	GPR139_uc010vaw.1_Missense_Mutation_p.R200H	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	293						integral to membrane|plasma membrane		p.R293R(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGCCATGGTGCGGAACCGCTT	0.512													75	141					0	0	1	0	0	T	20043241	C	T	20043241	3	4	120	1	0	0	0	0	1	0	0	0	6648	768	27	1	187	1	GPR139	16	20043241	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		20043241	70311512	8	2085											
EXOC3L2	90332	broad.mit.edu	37	chr19	45721473	45721473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggtaaggctcgtcctgCattctgcgcagggccagggc	14	13	1	0			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr19:45721473C>T	uc002pay.1	-	6	686	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	215										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCTCGTCCTGCATTCTGCGCA	0.667													5	8					0	0	1	0	0	T	45721473	C	T	45721473	3	4	120	1	0	0	0	0	1	0	0	0	5305	710	25	2	600	2	EXOC3L2	19	45721473	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		45721473	13407510	9	2086											
ZNF630	57232	broad.mit.edu	37	chrX	47918136	47918136	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatagggtttctctccagtAtgacctctctgatgtagaat	8	9	3	3			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chrX:47918136A>G	uc004div.4	-	4	1947	c.1695T>C	c.(1693-1695)caT>caC	p.H565H	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Silent_p.H551H|ZNF630_uc022bvs.1_Silent_p.H565H	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCTCTCCAGTATGACCTCTCT	0.453													4	15					0	0	1	0	0	G	47918136	A	G	47918136	2	3	120	1	0	0	0	0	0	0	0	1	18051	446	16	3		3	ZNF630	23	47918136	Silent	SNP	A	TCGA-DJ-A3VB-01A-11D-A23M-08		47918136	107352424	10	2087											
DHX36	170506	broad.mit.edu	37	chr3	154033843	154033843	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtacccatgatcctcaggaGcaaaccaggatatctgtgct	9	12	2	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr3:154033843G>C	uc003ezy.4	-	1	434	c.353C>G	c.(352-354)gCt>gGt	p.A118G	DHX36_uc010hvq.3_Missense_Mutation_p.A118G|DHX36_uc003ezz.4_Missense_Mutation_p.A118G	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	118						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATCCTCAGGAGCAAACCAGGA	0.333													12	53					0	0	1	0	0	C	154033843	G	C	154033843	3	2	121	1	0	0	0	0	1	0	0	0	4509	971	34	4	2769	4	DHX36	3	154033843	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		154033843	43988587	1	2088											
BMP6	654	broad.mit.edu	37	chr6	7862663	7862663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggtcagcctccagccGgcgccgacaacagagtcgta	11	16	1	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr6:7862663G>A	uc003mxu.4	+	3	1314	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	379					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCCTCCAGCCGGCGCCGACAA	0.607													8	136					0	0	1	0	0	A	7862663	G	A	7862663	3	1	121	1	0	0	0	0	1	0	0	0	1464	1116	39	1	1150	1	BMP6	6	7862663	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		7862663	163252404	2	2089											
COL12A1	1303	broad.mit.edu	37	chr6	75884986	75884986	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gataatttcatagtagacgtCgtagggtcagaaactcttaa	9	6	3	2			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr6:75884986C>T	uc021zbv.1	-	11	2513	c.2478G>A	c.(2476-2478)acG>acA	p.T826T	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.T826T|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	826	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAGTAGACGTCGTAGGGTCAG	0.393													15	122					0	0	1	0	0	T	75884986	C	T	75884986	2	4	121	1	0	0	0	0	0	0	0	1	3669	871	31	1		1	COL12A1	6	75884986	Silent	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08	68022323	75884986	95230081	3	2090											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				39	91					0	0	1	0	0	T	140453136	A	T	140453136	3	4	121	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VE-01A-11D-A23M-08		140453136	18685527	4	2091											
DERL1	79139	broad.mit.edu	37	chr8	124034940	124034940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttaaatcgtgttccaAaccaaaatgatacaatcatg	5	9	1	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr8:124034940A>G	uc003ypl.2	-	4	723	c.437T>C	c.(436-438)tTt>tCt	p.F146S	DERL1_uc003ypm.2_Missense_Mutation_p.F146S|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Missense_Mutation_p.F146S	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.	146					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCGTGTTCCAAACCAAAATGA	0.413											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	82	164					0	0	1	0	0	G	124034940	A	G	124034940	3	3	121	1	0	0	0	0	1	0	0	0	4446	14	1	3	334	3	DERL1	8	124034940	Missense_Mutation	SNP	A	TCGA-DJ-A3VE-01A-11D-A23M-08		124034940	22329082	5	2092											
STXBP1	6812	broad.mit.edu	37	chr9	130374691	130374691	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgcagcgccatggccccCattggcctcaaagctgttgt	11	15	1	0			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr9:130374691C>G	uc004brk.2	+	0	206	c.9C>G	c.(7-9)ccC>ccG	p.P3P	STXBP1_uc004brl.2_Silent_p.P3P	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	3					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCATGGCCCCCATTGGCCTCA	0.741													2	14					0	0	1	0	0	G	130374691	C	G	130374691	2	3	121	1	0	0	0	0	0	0	0	1	15351	581	21	4		4	STXBP1	9	130374691	Silent	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08		130374691	10838740	6	2093											
CACNA1B	774	broad.mit.edu	37	chr9	140777318	140777318	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctggaacgtcatggacttCgtggtcgtcctcacagggta	14	10	2	0			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr9:140777318C>T	uc004cog.3	+	2	658	c.513C>T	c.(511-513)ttC>ttT	p.F171F	AK128414_uc004cof.1_Non-coding_Transcript|CACNA1B_uc022bqn.1_Silent_p.F171F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	171					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCATGGACTTCGTGGTCGTCC	0.607													25	350					0	0	1	0	0	T	140777318	C	T	140777318	2	4	121	1	0	0	0	0	0	0	0	1	2539	883	31	1		1	CACNA1B	9	140777318	Silent	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08	10402627	140777318	436113	7	2094											
PSAP	5660	broad.mit.edu	37	chr10	73587777	73587777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacaaggctcactatgtcGgccatgccagggcccaggcg	13	14	1	0	rs141199649	byFrequency	TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr10:73587777G>A	uc001jsm.3	-	5	818	c.714C>T	c.(712-714)gcC>gcT	p.A238A		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	238	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TCACTATGTCGGCCATGCCAG	0.572													6	79					0	0	1	0	0	A	73587777	G	A	73587777	2	1	121	1	0	0	0	0	0	0	0	1	12643	1103	39	1		1	PSAP	10	73587777	Silent	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		73587777	61946970	8	2095											
OR4S1	256148	broad.mit.edu	37	chr11	48328468	48328468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtcatctgaggaccggCgtaaggctgtctccacatgt	12	12	3	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr11:48328468C>T	uc010rhu.2	+	0	694	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGAGGACCGGCGTAAGGCTGT	0.478													9	269					0	0	1	0	0	T	48328468	C	T	48328468	3	4	121	1	0	0	0	0	1	0	0	0	11082	768	27	1	696	1	OR4S1	11	48328468	Missense_Mutation	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08		48328468	86678048	9	2096											
VPS4B	9525	broad.mit.edu	37	chr18	61077535	61077535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgtaccccttctcatctGctggactcggctgtccttct	7	16	3	0			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr18:61077535G>A	uc002lix.3	-	2	544	c.284C>T	c.(283-285)gCa>gTa	p.A95V	VPS4B_uc010dpx.3_Missense_Mutation_p.A95V|VPS4B_uc010dpy.3_5'UTR|VPS4B_uc010dpz.1_5'UTR	NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	95					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CTTCTCATCTGCTGGACTCGG	0.358													110	187					0	0	1	0	0	A	61077535	G	A	61077535	3	1	121	1	0	0	0	0	1	0	0	0	17210	1319	46	2	1086	2	VPS4B	18	61077535	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		61077535	16999713	10	2097											
GZF1	64412	broad.mit.edu	37	chr20	23349552	23349552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattcactgtaccagcataTtaaagtccacacaggtatgg	8	9	1	0			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr20:23349552T>C	uc010gdb.3	+	4	1787	c.1613T>C	c.(1612-1614)aTt>aCt	p.I538T	GZF1_uc002wsy.3_Missense_Mutation_p.I538T|GZF1_uc010zsq.2_Missense_Mutation_p.I62T|GZF1_uc010zsr.2_Missense_Mutation_p.I47T|GZF1_uc002wsz.3_Missense_Mutation_p.I538T	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	538					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TACCAGCATATTAAAGTCCAC	0.378													24	158					0	0	1	0	0	C	23349552	T	C	23349552	3	2	121	1	0	0	0	0	1	0	0	0	6914	1493	52	3	1623	3	GZF1	20	23349552	Missense_Mutation	SNP	T	TCGA-DJ-A3VE-01A-11D-A23M-08		23349552	39675968	11	2098											
APOL2	23780	broad.mit.edu	37	chr22	36623751	36623751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcgggggtggggcatacGctcctaactgagggttggct	17	8	0	1			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr22:36623751G>A	uc011amm.2	-	5	1092	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	APOL2_uc003aoz.3_Missense_Mutation_p.A238V|APOL2_uc003apa.3_Missense_Mutation_p.A238V	NM_145637	NP_663612	Q9BQE5	APOL2_HUMAN	Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA.	238					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TGGGGCATACGCTCCTAACTG	0.542													100	135					0	0	1	0	0	A	36623751	G	A	36623751	3	1	121	1	0	0	0	0	1	0	0	0	806	1087	38	1	304	1	APOL2	22	36623751	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		36623751	14680815	12	2099											
BBS12	166379	broad.mit.edu	37	chr4	123664933	123664933	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgcaaaatgccacagactCtggctctccttcatcttaca	5	14	5	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr4:123664933C>G	uc021xrm.1	+	2	2267	c.1886C>G	c.(1885-1887)tCt>tGt	p.S629C	BBS12_uc003ieu.3_Missense_Mutation_p.S629C|BBS12_uc021xrn.1_Missense_Mutation_p.S629C	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	629					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GCCACAGACTCTGGCTCTCCT	0.348									Bardet-Biedl syndrome				17	61					0	0	1	0	0	G	123664933	C	G	123664933	3	3	122	1	0	0	0	0	1	0	0	0	1337	913	32	4	1888	4	BBS12	4	123664933	Missense_Mutation	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		123664933	67489343	1	2100											
IMPG1	3617	broad.mit.edu	37	chr6	76751735	76751735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttgccaaatcgaatattCgtctcatagttgacattttg	7	8	1	1	rs147225489	byFrequency	TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr6:76751735C>T	uc003pik.1	-	1	306	c.176G>A	c.(175-177)cGa>cAa	p.R59Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	59					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATCGAATATTCGTCTCATAGT	0.358													40	81					0	0	1	0	0	T	76751735	C	T	76751735	3	4	122	1	0	0	0	0	1	0	0	0	7728	884	31	1	2281	1	IMPG1	6	76751735	Missense_Mutation	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		76751735	94363332	2	2101											
LRRC17	10234	broad.mit.edu	37	chr7	102574783	102574783	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttactgcagcacaaccagatCaaagtcttgacggaggaagt	10	9	2	2			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr7:102574783C>G	uc003vau.3	+	1	812	c.423C>G	c.(421-423)atC>atG	p.I141M	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.I141M	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	141					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACAACCAGATCAAAGTCTTGA	0.448													6	83					0	0	1	0	0	G	102574783	C	G	102574783	3	3	122	1	0	0	0	0	1	0	0	0	8973	816	29	4	425	4	LRRC17	7	102574783	Missense_Mutation	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		102574783	56563880	3	2102											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	79					0	0	1	0	0	T	140453136	A	T	140453136	3	4	122	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VF-01A-11D-A23M-08	37878353	140453136	18685527	4	2103											
CKAP4	10970	broad.mit.edu	37	chr12	106633705	106633705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccatgtcccactctctGgacttggctgaggtctgtat	10	13	2	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr12:106633705G>A	uc001tlk.3	-	1	990	c.906C>T	c.(904-906)tcC>tcT	p.S302S		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	302						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCCACTCTCTGGACTTGGCTG	0.537													24	136					0	0	1	0	0	A	106633705	G	A	106633705	2	1	122	1	0	0	0	0	0	0	0	1	3444	1335	47	2		2	CKAP4	12	106633705	Silent	SNP	G	TCGA-DJ-A3VF-01A-11D-A23M-08		106633705	27218190	5	2104											
SLC8A3	6547	broad.mit.edu	37	chr14	70634771	70634771	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccagacccgaatagtggtTgtgctggtttctccattggg	12	9	1	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr14:70634771T>A	uc001xly.3	-	1	1123	c.369A>T	c.(367-369)acA>acT	p.T123T	SLC8A3_uc001xlw.3_Silent_p.T123T|SLC8A3_uc001xlx.3_Silent_p.T123T|SLC8A3_uc001xlz.3_Silent_p.T123T|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	123					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAATAGTGGTTGTGCTGGTTT	0.488													12	43					0	0	1	0	0	A	70634771	T	A	70634771	2	1	122	1	0	0	0	0	0	0	0	1	14708	1799	63	5		5	SLC8A3	14	70634771	Silent	SNP	T	TCGA-DJ-A3VF-01A-11D-A23M-08		70634771	36714769	6	2105											
CRYM	1428	broad.mit.edu	37	chr16	21272640	21272640	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttaatcacttctcccAgctcagcaaagatctcggcc	5	17	4	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr16:21272640A>T	uc002dim.3	-	8	1113	c.815T>A	c.(814-816)cTg>cAg	p.L272Q	CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.L230Q	NM_001888	NP_001014444	Q14894	CRYM_HUMAN	Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	272					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CACTTCTCCCAGCTCAGCAAA	0.507													10	35					0	0	1	0	0	T	21272640	A	T	21272640	3	4	122	1	0	0	0	0	1	0	0	0	3921	188	7	5	137	5	CRYM	16	21272640	Missense_Mutation	SNP	A	TCGA-DJ-A3VF-01A-11D-A23M-08		21272640	69082113	7	2106											
FLOT2	2319	broad.mit.edu	37	chr17	27209047	27209047	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccaactgggcctcagctgtCtgtggcaagagggtgtgtgg	17	9	2	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr17:27209047C>A	uc002hdc.3	-	8	823	c.700_splice	c.e8-1	p.T234_splice		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	234					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCTCAGCTGTCTGTGGCAAGA	0.567													5	52					0	0	1	0	0	A	27209047	C	A	27209047	5	1	122	1	0	0	0	0	0	0	1	0	5937	927	32	4	603	4	FLOT2	17	27209047	Splice_Site	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		27209047	53986163	8	2107											
DGCR2	9993	broad.mit.edu	37	chr22	19028788	19028788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagccagggatcctgcgGccgaggttgaagtggtgcac	15	10	1	1			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr22:19028788G>A	uc002zoq.1	-	8	1427	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	DGCR2_uc021wkx.1_Silent_p.G390G|DGCR2_uc021wky.1_Silent_p.G352G|DGCR2_uc021wkz.1_Silent_p.G169G|DGCR2_uc011agr.1_Silent_p.G349G|DGCR2_uc002zor.1_Silent_p.G169G	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	393					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GGATCCTGCGGCCGAGGTTGA	0.622													25	59					0	0	1	0	0	A	19028788	G	A	19028788	2	1	122	1	0	0	0	0	0	0	0	1	4461	1190	42	2		2	DGCR2	22	19028788	Silent	SNP	G	TCGA-DJ-A3VF-01A-11D-A23M-08		19028788	32275778	9	2108											
CATSPER4	378807	broad.mit.edu	37	chr1	26527433	26527433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgcgggaggccccctgtCgaacctctcagaaaacacgt	10	15	1	1			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr1:26527433C>T	uc010oez.2	+	7	1100	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	CATSPER4_uc010oey.1_Missense_Mutation_p.S189L|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	367					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCCCTGTCGAACCTCTCA	0.547													29	83					0	0	1	0	0	T	26527433	C	T	26527433	3	4	123	1	0	0	0	0	1	0	0	0	2690	893	31	1	1130	1	CATSPER4	1	26527433	Missense_Mutation	SNP	C	TCGA-DJ-A3VJ-01A-11D-A23M-08		26527433	222723188	1	2109											
BIRC6	57448	broad.mit.edu	37	chr2	32694627	32694627	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggtcaatttctttctAatgtccttcaggaattgtac	10	7	4	0			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr2:32694627A>T	uc010ezu.3	+	29	6426	c.6292A>T	c.(6292-6294)Aat>Tat	p.N2098Y		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2098					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTTCTTTCTAATGTCCTTCA	0.413													78	239					0	0	1	0	0	T	32694627	A	T	32694627	3	4	123	1	0	0	0	0	1	0	0	0	1438	362	13	5	6410	5	BIRC6	2	32694627	Missense_Mutation	SNP	A	TCGA-DJ-A3VJ-01A-11D-A23M-08		32694627	210504746	2	2110											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				44	89					0	0	1	0	0	T	140453136	A	T	140453136	3	4	123	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VJ-01A-11D-A23M-08		140453136	18685527	3	2111											
APBA1	320	broad.mit.edu	37	chr9	72082820	72082820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagagcagctgagtggaGccaaggtaattggcggcaaa	15	7	1	2			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr9:72082820G>A	uc004ahh.2	-	4	1677	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	467	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCTGAGTGGAGCCAAGGTAAT	0.532													91	216					0	0	1	0	0	A	72082820	G	A	72082820	2	1	123	1	0	0	0	0	0	0	0	1	756	958	34	2		2	APBA1	9	72082820	Silent	SNP	G	TCGA-DJ-A3VJ-01A-11D-A23M-08		72082820	69130611	4	2112											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	rs34409589		TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr14:105246551C>T	uc001ypk.3	-	2	603	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_uc001ypl.3_Missense_Mutation_p.E17K|AKT1_uc010axa.3_Missense_Mutation_p.E17K|AKT1_uc001ypm.3_Missense_Mutation_p.E17K|AKT1_uc001ypn.3_Missense_Mutation_p.E17K|AKT1_uc010tyk.2_5'Flank	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(255)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"								9	27					0	0	1	0	0	T	105246551	C	T	105246551	3	4	123	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-DJ-A3VJ-01A-11D-A23M-08		105246551	2102989	5	2113											
BPTF	2186	broad.mit.edu	37	chr17	65907817	65907817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacctctgtcaagagcaAtggactttgaaggaaaactg	9	10	2	2			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr17:65907817A>G	uc002jgf.3	+	10	3878	c.3817A>G	c.(3817-3819)Atg>Gtg	p.M1273V	BPTF_uc002jge.3_Missense_Mutation_p.M1399V	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1399					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTCAAGAGCAATGGACTTTGA	0.408													65	157					0	0	1	0	0	G	65907817	A	G	65907817	3	3	123	1	0	0	0	0	1	0	0	0	1495	101	4	3	4245	3	BPTF	17	65907817	Missense_Mutation	SNP	A	TCGA-DJ-A3VJ-01A-11D-A23M-08		65907817	15287393	6	2114											
ANGPTL4	51129	broad.mit.edu	37	chr19	8436239	8436239	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgagttgctgcagttctccgTgcacctgggtggcgaggaca	15	11	1	0			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr19:8436239T>A	uc002mjq.1	+	5	1067	c.872T>A	c.(871-873)gTg>gAg	p.V291E	ANGPTL4_uc002mjr.1_Missense_Mutation_p.V253E|ANGPTL4_uc010xkc.1_Missense_Mutation_p.V124E	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	291	Fibrinogen C-terminal.		V -> M.		angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CAGTTCTCCGTGCACCTGGGT	0.687													16	53					0	0	1	0	0	A	8436239	T	A	8436239	3	1	123	1	0	0	0	0	1	0	0	0	616	1696	59	5	894	5	ANGPTL4	19	8436239	Missense_Mutation	SNP	T	TCGA-DJ-A3VJ-01A-11D-A23M-08		8436239	50692744	7	2115											
KCND3	3752	broad.mit.edu	37	chr1	112524826	112524826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgctggtgtgggggtTctcgaaggcccgccacatgg	17	11	1	0			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr1:112524826T>C	uc001ebu.1	-	1	1003	c.523A>G	c.(523-525)Aac>Gac	p.N175D	KCND3_uc001ebv.1_Missense_Mutation_p.N175D	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	175						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTGTGGGGGTTCTCGAAGGCC	0.627													9	44					0	0	1	0	0	C	112524826	T	C	112524826	3	2	124	1	0	0	0	0	1	0	0	0	8020	1783	62	3	1472	3	KCND3	1	112524826	Missense_Mutation	SNP	T	TCGA-DJ-A3VK-01A-11D-A23M-08		112524826	136725795	1	2116											
MRPS18C	51023	broad.mit.edu	37	chr4	84377236	84377236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacgcggaaccatggcCgctgtggttgctgtttgcgg	15	9	0	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr4:84377236C>T	uc003hor.4	+	0	119	c.6C>T	c.(4-6)gcC>gcT	p.A2A	HELQ_uc003hom.3_5'Flank|HELQ_uc010ikb.3_5'Flank|HELQ_uc003hol.4_5'Flank|HELQ_uc010ikc.3_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	Homo sapiens mitochondrial ribosomal protein S18C (MRPS18C), nuclear gene encoding mitochondrial protein, mRNA.	2					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				GAACCATGGCCGCTGTGGTTG	0.562													37	169					0	0	1	0	0	T	84377236	C	T	84377236	2	4	124	1	0	0	0	0	0	0	0	1	9830	639	23	1		1	MRPS18C	4	84377236	Silent	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		84377236	106777040	2	2117											
RAI14	26064	broad.mit.edu	37	chr5	34808710	34808710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcagggctgccttcaagCtgtgcagattctctgcgaac	12	12	3	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr5:34808710C>A	uc003jis.3	+	8	949	c.410C>A	c.(409-411)gCt>gAt	p.A137D	RAI14_uc003jir.3_Missense_Mutation_p.A134D|RAI14_uc010iur.3_Missense_Mutation_p.A134D|RAI14_uc011coj.2_Missense_Mutation_p.A134D|RAI14_uc010ius.1_Missense_Mutation_p.A63D|RAI14_uc003jit.3_Missense_Mutation_p.A134D|RAI14_uc011cok.2_Missense_Mutation_p.A126D	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	134						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGCCTTCAAGCTGTGCAGATT	0.478													6	37					0	0	1	0	0	A	34808710	C	A	34808710	3	1	124	1	0	0	0	0	1	0	0	0	13008	797	28	4	488	4	RAI14	5	34808710	Missense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		34808710	146106550	3	2118											
ZCCHC10	54819	broad.mit.edu	37	chr5	132342584	132342584	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccaaattccaagcatttctGacatcttacatgttgcttat	4	10	2	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr5:132342584G>C	uc003kyh.3	-	2	147	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	ZCCHC10_uc003kyg.3_Missense_Mutation_p.Q24E|ZCCHC10_uc011cxl.2_Missense_Mutation_p.Q24E	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.	46							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGCATTTCTGACATCTTACA	0.338													6	17					0	0	1	0	0	C	132342584	G	C	132342584	3	2	124	1	0	0	0	0	1	0	0	0	17576	1299	45	4	454	4	ZCCHC10	5	132342584	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08	97533874	132342584	48572676	4	2119											
BRAF	673	broad.mit.edu	37	chr7	140453140	140453163	+	In_Frame_Ins	INS	TAGCTAGACCAAAATCACCTATTT	TAGCTAGACCAAAATCACCTATTT	TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT													ctccatcgagatttcactgtINSagctagaccaaaatcaccta					rs121913368		TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr7:140453140_140453163TAGCTAGACCAAAATCACCTATTT>TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT	uc003vwc.4	-	14	1833_1856	c.1772_1795AAATAGGTGATTTTGGTCTAGCTA>AAATAGGTGATTTTGGTCTAGCTAAAATAGGTGATTTTGGTCTAGCTA	c.(1771-1797)aaaataggtgattttggtctagctaca>aAAATAGGTGATTTTGGTCTAGCTAAAATAGGTGATTTTGGTCTAGCTAca	p.598_599insKIGDFGLA		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	598	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594G(35)|p.L597R(30)|p.L597V(24)|p.L597S(22)|p.L597Q(21)|p.A598_T599insV(13)|p.D594N(9)|p.F595L(8)|p.A598V(8)|p.T599_V600insT(7)|p.L597L(6)|p.G596R(6)|p.T599I(5)|p.I592M(4)|p.F595S(3)|p.D594V(3)|p.T599_V600insTT(3)|p.D594H(2)|p.D594E(2)|p.I592V(2)|p.G596D(2)|p.T599_V600>IAL(2)|p.L597_A598insT(2)|p.T599_R603>I(2)|p.T599T(2)|p.A598T(2)|p.D594D(1)|p.K591R(1)|p.T599_V600insDFGLAT(1)|p.G596fs*2(1)|p.T599_V600insV(1)|p.G593D(1)|p.D594_T599del(1)|p.G593S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GATTTCACTGTAGCTAGACCAAAATCACCTATTTTTACTGTGAG	0.366	G596R(NCIH508_LARGE_INTESTINE)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	42	---	---	---	---						TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT	140453163	TAGCTAGACCAAAATCACCTATTT	TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT	140453140	7	5	124	1	0	1	1	0	0	0	0	0	1496	1638	57	0	521	0	BRAF	7	140453140	In_Frame_Ins	INS	TAGCTAGACCAAAATCACCTATTT	TCGA-DJ-A3VK-01A-11D-A23M-08		140453140	18685523	5	2120											
TAF1L	138474	broad.mit.edu	37	chr9	32634427	32634427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctttctcagtttgaagCcatagtcaaacccactgcca	7	12	3	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr9:32634427C>A	uc003zrg.1	-	0	1241	c.1151G>T	c.(1150-1152)gGc>gTc	p.G384V	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	384					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGTTTGAAGCCATAGTCAAA	0.463													35	146					0	0	1	0	0	A	32634427	C	A	32634427	3	1	124	1	0	0	0	0	1	0	0	0	15520	739	26	4	4333	4	TAF1L	9	32634427	Missense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		32634427	108579004	6	2121											
TMEM203	94107	broad.mit.edu	37	chr9	140099754	140099754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccgggaccaggccaTccacacgcagtgccagcagc	13	16	0	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr9:140099754T>C	uc004clv.3	-	0	337	c.113A>G	c.(112-114)gAt>gGt	p.D38G	NDOR1_uc004clx.3_5'Flank|NDOR1_uc004clw.3_5'Flank|NDOR1_uc011mes.2_5'Flank|NDOR1_uc004cly.3_5'Flank	NM_053045	NP_444273	Q969S6	TM203_HUMAN	Homo sapiens transmembrane protein 203 (TMEM203), mRNA.	38						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCAGGCCATCCACACGCAG	0.637													3	20					0	0	1	0	0	C	140099754	T	C	140099754	3	2	124	1	0	0	0	0	1	0	0	0	16125	1435	50	3	301	3	TMEM203	9	140099754	Missense_Mutation	SNP	T	TCGA-DJ-A3VK-01A-11D-A23M-08	107465327	140099754	1113677	7	2122											
ZNF438	220929	broad.mit.edu	37	chr10	31138963	31138963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctatttctagggggttgaTatctaggaataggaagtttc	12	4	2	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr10:31138963T>C	uc010qdz.2	-	6	806	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF438_uc001ivn.3_Missense_Mutation_p.Y75C|ZNF438_uc010qdy.2_Missense_Mutation_p.Y114C|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Missense_Mutation_p.Y124C|ZNF438_uc001ivp.4_Missense_Mutation_p.Y114C|ZNF438_uc010qea.2_Missense_Mutation_p.Y124C|ZNF438_uc010qeb.2_Missense_Mutation_p.Y124C|ZNF438_uc010qec.1_Intron	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGGGGGTTGATATCTAGGAAT	0.448													7	100					0	0	1	0	0	C	31138963	T	C	31138963	3	2	124	1	0	0	0	0	1	0	0	0	17907	1406	49	3	2123	3	ZNF438	10	31138963	Missense_Mutation	SNP	T	TCGA-DJ-A3VK-01A-11D-A23M-08		31138963	104395784	8	2123											
OR51E2	81285	broad.mit.edu	37	chr11	4703767	4703767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgcagagaaagaggtAcatcggagcgtgcaggctgc	15	8	0	2			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr11:4703767A>G	uc001lzk.2	-	1	419	c.175T>C	c.(175-177)Tac>Cac	p.Y59H	OR51E2_uc021qcr.1_Missense_Mutation_p.Y59H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAAAGAGGTACATCGGAGCG	0.512													7	86					0	0	1	0	0	G	4703767	A	G	4703767	3	3	124	1	0	0	0	0	1	0	0	0	11095	391	14	3	791	3	OR51E2	11	4703767	Missense_Mutation	SNP	A	TCGA-DJ-A3VK-01A-11D-A23M-08		4703767	130302749	9	2124											
ARCN1	372	broad.mit.edu	37	chr11	118455206	118455206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttaggccttcaggccCcagcaaggctttaaaacttg	8	13	1	0			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr11:118455206C>T	uc009zag.3	+	5	990	c.788C>T	c.(787-789)cCc>cTc	p.P263L	ARCN1_uc001ptq.3_Missense_Mutation_p.P222L|ARCN1_uc010ryg.2_Missense_Mutation_p.P134L	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	222					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCTTCAGGCCCCAGCAAGGCT	0.393													5	29					0	0	1	0	0	T	118455206	C	T	118455206	3	4	124	1	0	0	0	0	1	0	0	0	842	623	22	2	683	2	ARCN1	11	118455206	Missense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08	113751439	118455206	16551310	10	2125											
C12orf66	144577	broad.mit.edu	37	chr12	64587880	64587880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgatgacattgggccaGtgcatgactggcctgtcgct	12	10	1	3			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr12:64587880G>A	uc001srw.4	-	2	1139	c.1080C>T	c.(1078-1080)caC>caT	p.H360H		NM_152440	NP_689653	Q96MD2	CL066_HUMAN	Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.	360										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CATTGGGCCAGTGCATGACTG	0.522													9	112					0	0	1	0	0	A	64587880	G	A	64587880	2	1	124	1	0	0	0	0	0	0	0	1	1709	1020	36	2		2	C12orf66	12	64587880	Silent	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		64587880	69264015	11	2126											
KIAA0391	9692	broad.mit.edu	37	chr14	35742769	35742769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcctccaccaaaagacAtagagattcttacctctatg	5	12	2	2			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr14:35742769A>G	uc001wsy.1	+	7	2109	c.1749A>G	c.(1747-1749)acA>acG	p.T583T	KIAA0391_uc010tps.1_Silent_p.T488T|KIAA0391_uc001wsz.1_Silent_p.T567T|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Silent_p.T211T	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	583					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ACCAAAAGACATAGAGATTCT	0.453													4	41					0	0	1	0	0	G	35742769	A	G	35742769	2	3	124	1	0	0	0	0	0	0	0	1	8172	204	8	3		3	KIAA0391	14	35742769	Silent	SNP	A	TCGA-DJ-A3VK-01A-11D-A23M-08		35742769	71606771	12	2127											
SNX20	124460	broad.mit.edu	37	chr16	50707544	50707544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgaaggcctcggcggggcGgtcgaggtcgcggtggcaca	20	12	0	0			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr16:50707544G>A	uc002egk.2	-	3	897	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	242					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCGGCGGGGCGGTCGAGGTCG	0.756													5	18					0	0	1	0	0	A	50707544	G	A	50707544	3	1	124	1	0	0	0	0	1	0	0	0	14892	1116	39	1	373	1	SNX20	16	50707544	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		50707544	39647209	13	2128											
XYLT2	64132	broad.mit.edu	37	chr17	48431804	48431804	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccagtgggatgagagcCaagcccagcagcccatggat	13	12	0	1			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr17:48431804C>T	uc002iqo.3	+	2	773	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	222					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGATGAGAGCCAAGCCCAGCA	0.657													7	40					0	0	1	0	0	T	48431804	C	T	48431804	4	4	124	1	0	0	0	0	0	1	0	0	17461	595	21	2	674	2	XYLT2	17	48431804	Nonsense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		48431804	32763406	14	2129											
PRDM15	63977	broad.mit.edu	37	chr21	43259762	43259762	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttgtcttccacgatgactaGaggctgctcagctttggaca	10	11	2	2			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr21:43259762G>C	uc002yzq.1	-	13	2050	c.1939C>G	c.(1939-1941)Cta>Gta	p.L647V	PRDM15_uc002yzo.3_Missense_Mutation_p.L318V|PRDM15_uc002yzp.3_Missense_Mutation_p.L318V|PRDM15_uc002yzr.1_Missense_Mutation_p.L318V	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACGATGACTAGAGGCTGCTCA	0.617													12	253					0	0	1	0	0	C	43259762	G	C	43259762	3	2	124	1	0	0	0	0	1	0	0	0	12456	933	33	4	2656	4	PRDM15	21	43259762	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		43259762	4870133	15	2130											
RNF215	200312	broad.mit.edu	37	chr22	30776280	30776280	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggctcccacctggcctccGagctcccgctggctctgccg	11	20	1	0			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr22:30776280G>A	uc003ahp.3	-	5	855	c.855C>T	c.(853-855)ctC>ctT	p.L285L	RNF215_uc011akw.2_Silent_p.L190L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	Homo sapiens ring finger protein 215 (RNF215), mRNA.	285						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCTGGCCTCCGAGCTCCCGCT	0.687													9	47					0	0	1	0	0	A	30776280	G	A	30776280	2	1	124	1	0	0	0	0	0	0	0	1	13479	1045	37	1		1	RNF215	22	30776280	Silent	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		30776280	20528286	16	2131											
NTSR2	23620	broad.mit.edu	37	chr2	11809697	11809697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcgcgaggcgggctccgGctccccgtccgccgtctcga	13	19	1	0			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr2:11809697G>A	uc002rbq.4	-	0	633	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	187					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCGGGCTCCGGCTCCCCGTCC	0.711													13	22					0	0	1	0	0	A	11809697	G	A	11809697	3	1	125	1	0	0	0	0	1	0	0	0	10711	1203	42	2	689	2	NTSR2	2	11809697	Missense_Mutation	SNP	G	TCGA-DJ-A3VL-01A-11D-A23M-08		11809697	231389676	1	2132											
RASA1	5921	broad.mit.edu	37	chr5	86676346	86676346	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacattgagatatatttatgGgtgtttacagaaatctgttc	9	4	1	2			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr5:86676346G>C	uc003kiw.3	+	19	2823	c.2624G>C	c.(2623-2625)gGg>gCg	p.G875A	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.G698A|RASA1_uc011ctv.2_Missense_Mutation_p.G708A|RASA1_uc011ctw.2_Missense_Mutation_p.G709A|RASA1_uc010jaw.3_Missense_Mutation_p.G697A	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	875	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TATATTTATGGGTGTTTACAG	0.363													21	49					0	0	1	0	0	C	86676346	G	C	86676346	3	2	125	1	0	0	0	0	1	0	0	0	13060	1232	43	4	2714	4	RASA1	5	86676346	Missense_Mutation	SNP	G	TCGA-DJ-A3VL-01A-11D-A23M-08		86676346	94238914	2	2133											
BRAF	673	broad.mit.edu	37	chr7	140477827	140477841	+	In_Frame_Del	DEL	TGCTGAGGTGTAGGT	TGCTGAGGTGTAGGT	-													catttttgaaggcttgtaacTgctgaggtgtaggtgctgtc							TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr7:140477827_140477841delTGCTGAGGTGTAGGT	uc003vwc.4	-	11	1528_1542	c.1467_1481delACCTACACCTCAGCA	c.(1465-1482)gcacctacacctcagcag>gcg	p.PTPQQ490del		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	490	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(4)|p.N486_P490del(3)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GGCTTGTAACTGCTGAGGTGTAGGTGCTGTCACAT	0.353		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				4	54	---	---	---	---						-	140477841	TGCTGAGGTGTAGGT	-	140477827	7	5	125	1	0	1	0	1	0	0	0	0	1496	1580	55	0	847	0	BRAF	7	140477827	In_Frame_Del	DEL	TGCTGAGGTGTAGGT	TCGA-DJ-A3VL-01A-11D-A23M-08		140477827	18660836	3	2134											
OGFOD2	79676	broad.mit.edu	37	chr12	123463748	123463748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggtgagcgttggaaccTtgtcgtctggctccgagcct	13	12	1	1			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr12:123463748T>G	uc001uea.1	+	6	929	c.908T>G	c.(907-909)cTt>cGt	p.L303R	OGFOD2_uc001uds.1_Missense_Mutation_p.L139R|OGFOD2_uc001udv.1_Missense_Mutation_p.L139R|OGFOD2_uc001udt.1_Missense_Mutation_p.L139R|OGFOD2_uc001udu.1_Missense_Mutation_p.L139R|OGFOD2_uc009zxs.1_Missense_Mutation_p.L139R|OGFOD2_uc001udw.1_Missense_Mutation_p.L139R|OGFOD2_uc001udy.1_Missense_Mutation_p.L139R|OGFOD2_uc001udz.1_Missense_Mutation_p.L243R|OGFOD2_uc001ueb.1_Missense_Mutation_p.L139R|ARL6IP4_uc001uec.3_5'Flank|ARL6IP4_uc001ued.3_5'Flank|ARL6IP4_uc001uee.3_5'Flank|ARL6IP4_uc001uef.3_5'Flank|ARL6IP4_uc001ueg.3_5'Flank|ARL6IP4_uc009zxt.3_5'Flank|ARL6IP4_uc001uei.3_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA.	303	Fe2OG dioxygenase.						L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CGTTGGAACCTTGTCGTCTGG	0.672													25	76					0	0	1	0	0	G	123463748	T	G	123463748	3	3	125	1	0	0	0	0	1	0	0	0	10842	1609	56	5	750	5	OGFOD2	12	123463748	Missense_Mutation	SNP	T	TCGA-DJ-A3VL-01A-11D-A23M-08		123463748	10388147	4	2135											
CYP4F11	57834	broad.mit.edu	37	chr19	16024590	16024590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcagccaaagtccaccCtctgcgcgcaatatcagctc	7	18	2	0			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr19:16024590C>T	uc002nbu.2	-	12	1563	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.E509E	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	509					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAGTCCACCCTCTGCGCGCA	0.602													4	38					0	0	1	0	0	T	16024590	C	T	16024590	2	4	125	1	0	0	0	0	0	0	0	1	4186	680	24	2		2	CYP4F11	19	16024590	Silent	SNP	C	TCGA-DJ-A3VL-01A-11D-A23M-08		16024590	43104393	5	2136											
NUP133	55746	broad.mit.edu	37	chr1	229606430	229606430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacaaggtcagaaagccggGagtggtggttcttgagaaca	15	6	2	3			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr1:229606430G>A	uc001htn.3	-	14	2065	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	658					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGAAAGCCGGGAGTGGTGGTT	0.502													17	129					0	0	1	0	0	A	229606430	G	A	229606430	3	1	126	1	0	0	0	0	1	0	0	0	10754	1174	41	2	1545	2	NUP133	1	229606430	Missense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		229606430	19644191	1	2137											
CNOT10	25904	broad.mit.edu	37	chr3	32778913	32778913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattttagcagtaaaagccAtgatggagataaattcattc	7	6	1	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:32778913A>G	uc011axj.1	+	12	1783	c.1706A>G	c.(1705-1707)cAt>cGt	p.H569R	CNOT10_uc011axi.1_Missense_Mutation_p.H281R|CNOT10_uc003cfc.1_Missense_Mutation_p.H509R|CNOT10_uc003cfd.1_Missense_Mutation_p.H508R|CNOT10_uc003cfe.1_Intron|CNOT10_uc010hfv.1_Intron|CNOT10_uc010hfw.1_Missense_Mutation_p.H204R	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	509					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGTAAAAGCCATGATGGAGAT	0.323													36	75					0	0	1	0	0	G	32778913	A	G	32778913	3	3	126	1	0	0	0	0	1	0	0	0	3618	217	8	3	1576	3	CNOT10	3	32778913	Missense_Mutation	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08		32778913	165243517	2	2138											
SNRK	54861	broad.mit.edu	37	chr3	43345283	43345283	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagtatgatgcacctgcagtAggtaggtaacctcggtccag	13	9	0	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:43345283A>T	uc003cms.4	+	3	921	c.589_splice	c.e3+1	p.D197_splice	SNRK_uc003cmt.4_Splice_Site_p.D197_splice|SNRK_uc010hik.3_Splice_Site_p.D197_splice|SNRK_uc011azr.2_Intron|SNRK_uc003cmu.3_Splice_Site_p.D197_splice	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	197	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CACCTGCAGTAGGTAGGTAAC	0.423													51	91					0	0	1	0	0	T	43345283	A	T	43345283	5	4	126	1	0	0	0	0	0	0	1	0	14851	434	15	5	590	5	SNRK	3	43345283	Splice_Site	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08	10566370	43345283	154677147	3	2139											
MYLK	4638	broad.mit.edu	37	chr3	123345769	123345769	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggatgctgaaggcactGcgtgcagtccaggcggtttc	14	11	0	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:123345769G>A	uc003ego.3	-	30	5416	c.5134C>T	c.(5134-5136)Cag>Tag	p.Q1712*	MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Nonsense_Mutation_p.Q147*|MYLK_uc011bjv.2_Nonsense_Mutation_p.Q512*|MYLK_uc011bjw.2_Nonsense_Mutation_p.Q1712*|MYLK_uc003egp.3_Nonsense_Mutation_p.Q1643*|MYLK_uc003egq.3_Nonsense_Mutation_p.Q1661*|MYLK_uc003egr.3_Nonsense_Mutation_p.Q1592*|MYLK_uc003egs.3_Nonsense_Mutation_p.Q1536*	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1712	Calmodulin-binding.|Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAAGGCACTGCGTGCAGTCC	0.502													6	72					0	0	1	0	0	A	123345769	G	A	123345769	4	1	126	1	0	0	0	0	0	1	0	0	10056	1328	46	2	626	2	MYLK	3	123345769	Nonsense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08	80000486	123345769	74676661	4	2140											
KCNIP4	80333	broad.mit.edu	37	chr4	20751329	20751329	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtatcaaatgcattgaAcagaaaatgtgcatatgttg	9	5	2	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr4:20751329A>C	uc021xmt.1	-	4	505	c.385T>G	c.(385-387)Ttc>Gtc	p.F129V	KCNIP4_uc003gqe.2_Missense_Mutation_p.F112V|KCNIP4_uc003gqf.1_Missense_Mutation_p.F108V|KCNIP4_uc003gqg.1_Missense_Mutation_p.F67V|KCNIP4_uc003gqh.1_Missense_Mutation_p.F104V|KCNIP4_uc003gqi.1_Missense_Mutation_p.F67V|KCNIP4_uc021xmu.1_Missense_Mutation_p.F95V|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.F92V	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	129	EF-hand 2.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AATGCATTGAACAGAAAATGT	0.358													7	65					0	0	1	0	0	C	20751329	A	C	20751329	3	2	126	1	0	0	0	0	1	0	0	0	8042	43	2	5	387	5	KCNIP4	4	20751329	Missense_Mutation	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08		20751329	170402947	5	2141											
GUCY1A3	2982	broad.mit.edu	37	chr4	156631708	156631708	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggagttccagtggagGttatcaaagaatctcttggt	11	6	3	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr4:156631708G>C	uc003iov.3	+	6	927	c.391G>C	c.(391-393)Gtt>Ctt	p.V131L	GUCY1A3_uc003iou.2_Missense_Mutation_p.V131L|GUCY1A3_uc010iqc.2_Missense_Mutation_p.V131L|GUCY1A3_uc010iqd.3_Missense_Mutation_p.V130L|GUCY1A3_uc003iow.3_Missense_Mutation_p.V131L|GUCY1A3_uc003iox.3_Missense_Mutation_p.V131L|GUCY1A3_uc010iqe.3_Intron|GUCY1A3_uc003ioy.3_Missense_Mutation_p.V131L|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.V131L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	131				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCCAGTGGAGGTTATCAAAGA	0.373													29	51					0	0	1	0	0	C	156631708	G	C	156631708	3	2	126	1	0	0	0	0	1	0	0	0	6894	1261	44	4	405	4	GUCY1A3	4	156631708	Missense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08	135880379	156631708	34522568	6	2142											
PSPH	5723	broad.mit.edu	37	chr7	56079524	56079524	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgttatccttgacttgTtgcctgatcacatttcctcc	7	12	1	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:56079524T>C	uc003trj.3	-	5	1011	c.696A>G	c.(694-696)caA>caG	p.Q232Q	PSPH_uc003trh.3_Silent_p.Q203Q|PSPH_uc003tri.3_Silent_p.Q203Q	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	203					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTTGACTTGTTGCCTGATCA	0.348													11	170					0	0	1	0	0	C	56079524	T	C	56079524	2	2	126	1	0	0	0	0	0	0	0	1	12717	1722	60	3		3	PSPH	7	56079524	Silent	SNP	T	TCGA-DJ-A3VM-01A-11D-A23M-08		56079524	103059139	7	2143											
MOGAT3	346606	broad.mit.edu	37	chr7	100841499	100841499	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgccaggcgcacgaagCctttgcgcttctggagcgta	13	13	2	0			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:100841499C>G	uc003uyc.3	-	4	808	c.641G>C	c.(640-642)gGc>gCc	p.G214A	MOGAT3_uc010lhr.3_Missense_Mutation_p.G214A	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	214					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCACGAAGCCTTTGCGCTT	0.647													35	47					0	0	1	0	0	G	100841499	C	G	100841499	3	3	126	1	0	0	0	0	1	0	0	0	9696	739	26	4	396	4	MOGAT3	7	100841499	Missense_Mutation	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08	44761975	100841499	58297164	8	2144											
CPA2	1358	broad.mit.edu	37	chr7	129906739	129906739	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccatggccatgaggttgatCctgttttttggtgccctttt	10	10	0	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:129906739C>T	uc003vpq.3	+	0	37	c.18C>T	c.(16-18)atC>atT	p.I6I	CPA2_uc011kpc.1_Silent_p.I6I	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	6					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGAGGTTGATCCTGTTTTTTG	0.443													76	122					0	0	1	0	0	T	129906739	C	T	129906739	2	4	126	1	0	0	0	0	0	0	0	1	3790	845	30	2		2	CPA2	7	129906739	Silent	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08	29065240	129906739	29231924	9	2145											
TG	7038	broad.mit.edu	37	chr8	133883768	133883768	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaggggatggaggtgtatggGacccgccagctggggaggcc	21	8	0	0			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr8:133883768G>T	uc003ytw.3	+	3	491	c.450G>T	c.(448-450)ggG>ggT	p.G150G		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	150	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGTATGGGACCCGCCAGC	0.607													17	37					0	0	1	0	0	T	133883768	G	T	133883768	2	4	126	1	0	0	0	0	0	0	0	1	15810	1161	41	4		4	TG	8	133883768	Silent	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		133883768	12480254	10	2146											
NTNG2	84628	broad.mit.edu	37	chr9	135073480	135073480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcatcacctggagccGctaccccagcccgctggaag	12	16	1	1			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr9:135073480G>T	uc004cbh.2	+	2	1117	c.341G>T	c.(340-342)cGc>cTc	p.R114L		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	114	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCTGGAGCCGCTACCCCAGC	0.652													29	52					0	0	1	0	0	T	135073480	G	T	135073480	3	4	126	1	0	0	0	0	1	0	0	0	10705	1087	38	4	347	4	NTNG2	9	135073480	Missense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		135073480	6139951	11	2147											
LRRK2	120892	broad.mit.edu	37	chr12	40716160	40716160	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttgtggaccacattgattCtctcatggaagaatggtttc	10	7	2	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr12:40716160C>G	uc001rmg.4	+	36	5478	c.5357C>G	c.(5356-5358)tCt>tGt	p.S1786C	LRRK2_uc009zjw.3_Missense_Mutation_p.S624C|LRRK2_uc001rmi.3_Missense_Mutation_p.S619C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1786					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.Q1786K(1)|p.S1749F(1)|p.S1786F(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACATTGATTCTCTCATGGAA	0.398													149	253					0	0	1	0	0	G	40716160	C	G	40716160	3	3	126	1	0	0	0	0	1	0	0	0	9033	913	32	4	5503	4	LRRK2	12	40716160	Missense_Mutation	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08		40716160	93135735	12	2148											
ATP9B	374868	broad.mit.edu	37	chr18	76936903	76936904	+	Frame_Shift_Del	DEL	TG	TG	-													cacgcaacagctgccggctcTgggggtgagcagcaccaaga							TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr18:76936903_76936904delTG	uc002lmx.3	+	7	883_884	c.869_870delTG	c.(868-870)ctgfs	p.L290fs	ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Frame_Shift_Del_p.L290fs|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	290					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTGCCGGCTCTGGGGGTGAGCA	0.441													51	102	---	---	---	---						-	76936904	TG	-	76936903	7	5	126	1	0	1	0	1	0	0	0	0	1199	1580	55	0	899	0	ATP9B	18	76936903	Frame_Shift_Del	DEL	TG	TCGA-DJ-A3VM-01A-11D-A23M-08		76936903	1140345	13	2149											
EIF3G	8666	broad.mit.edu	37	chr19	10225802	10225802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggcttagttggtggaCggcctggggtaggggagggt	21	6	0	0			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr19:10225802C>T	uc002mnd.3	-	10	1015	c.951G>A	c.(949-951)ccG>ccA	p.P317P	PPAN-P2RY11_uc002mna.3_3'UTR|PPAN-P2RY11_uc010xla.2_3'UTR|PPAN-P2RY11_uc002mnc.3_3'UTR	NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	317	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTTGGTGGACGGCCTGGGGT	0.637													13	17					0	0	1	0	0	T	10225802	C	T	10225802	2	4	126	1	0	0	0	0	0	0	0	1	5017	523	19	1		1	EIF3G	19	10225802	Silent	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08		10225802	48903181	14	2150											
MMP24	10893	broad.mit.edu	37	chr20	33834779	33834779	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccggtgtgttggatcAgacaacgatcgagtaagatt	13	7	2	2			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr20:33834779A>C	uc002xbu.2	+	1	386	c.383A>C	c.(382-384)cAg>cCg	p.Q128P	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	128					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTGTTGGATCAGACAACGATC	0.522													7	107					0	0	1	0	0	C	33834779	A	C	33834779	3	2	126	1	0	0	0	0	1	0	0	0	9661	188	7	5	139	5	MMP24	20	33834779	Missense_Mutation	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08		33834779	29190741	15	2151											
MCCD1	401250	broad.mit.edu	37	chr6	31496941	31496941	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagctccagaggaaatggGaagatgacgtcccctcccag	11	13	0	3			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr6:31496941G>A	uc003ntp.1	+	0	203	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_001011700	NP_001011700	P59942	MCCD1_HUMAN	Homo sapiens mitochondrial coiled-coil domain 1 (MCCD1), nuclear gene encoding mitochondrial protein, mRNA.	50						mitochondrion				skin(1)	1						GAGGAAATGGGAAGATGACGT	0.562													30	39					0	0	1	0	0	A	31496941	G	A	31496941	2	1	127	1	0	0	0	0	0	0	0	1	9376	1161	41	2		2	MCCD1	6	31496941	Silent	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08		31496941	139618126	1	2152											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	47					0	0	1	0	0	T	140453136	A	T	140453136	3	4	127	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4UL-01A-11D-A257-08		140453136	18685527	2	2153											
GLIS3	169792	broad.mit.edu	37	chr9	3937126	3937126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatacggcttctcgcctgTgtggctccgcaagtggatct	11	12	2	0			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr9:3937126T>C	uc003zhx.1	-	4	2487	c.1774A>G	c.(1774-1776)Aca>Gca	p.T592A	GLIS3_uc010mhf.1_5'UTR|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.T437A|GLIS3_uc003zhy.1_Missense_Mutation_p.T370A|GLIS3_uc003zhz.1_Missense_Mutation_p.T370A	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	437					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCTCGCCTGTGTGGCTCCGC	0.507													40	74					0	0	1	0	0	C	3937126	T	C	3937126	3	2	127	1	0	0	0	0	1	0	0	0	6447	1696	59	3	1046	3	GLIS3	9	3937126	Missense_Mutation	SNP	T	TCGA-DJ-A4UL-01A-11D-A257-08		3937126	137276305	3	2154											
DRD4	1815	broad.mit.edu	37	chr11	640585	640585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaacgtcttccgcaaggcCctgcgtgcctgctgctgagc	12	16	1	1			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr11:640585C>T	uc001lqp.2	+	3	1242	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_000797	NP_000788	P21917	DRD4_HUMAN	Homo sapiens dopamine receptor D4 (DRD4), mRNA.	462					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	SH3 domain binding|dopamine D4 receptor activity|drug binding|potassium channel regulator activity			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	TCCGCAAGGCCCTGCGTGCCT	0.657													23	36					0	0	1	0	0	T	640585	C	T	640585	2	4	127	1	0	0	0	0	0	0	0	1	4759	610	22	2		2	DRD4	11	640585	Silent	SNP	C	TCGA-DJ-A4UL-01A-11D-A257-08		640585	134365931	4	2155											
OR4A47	403253	broad.mit.edu	37	chr11	48510460	48510460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacattttgaccatggtggGcaacctgctcattgtagtga	10	9	1	2	rs148277853		TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr11:48510460G>A	uc010rhx.2	+	0	116	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCATGGTGGGCAACCTGCTC	0.413													22	24					0	0	1	0	0	A	48510460	G	A	48510460	3	1	127	1	0	0	0	0	1	0	0	0	11042	1203	42	2	118	2	OR4A47	11	48510460	Missense_Mutation	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08	47869875	48510460	86496056	5	2156											
GOLGA3	2802	broad.mit.edu	37	chr12	133350748	133350748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaatacggtcgtacttgagCtgctggaggcagctgttcag	15	8	1	1			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr12:133350748C>G	uc001ukz.1	-	22	4861	c.4302G>C	c.(4300-4302)caG>caC	p.Q1434H	GOLGA3_uc021rgt.1_Non-coding_Transcript	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	1434					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGTACTTGAGCTGCTGGAGGC	0.602													20	34					0	0	1	0	0	G	133350748	C	G	133350748	3	3	127	1	0	0	0	0	1	0	0	0	6554	796	28	4	202	4	GOLGA3	12	133350748	Missense_Mutation	SNP	C	TCGA-DJ-A4UL-01A-11D-A257-08		133350748	501147	6	2157											
DNAH9	1770	broad.mit.edu	37	chr17	11757449	11757449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctggaaggctgctaagGtcaccatggccaaagtggat	15	8	1	0			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr17:11757449G>A	uc002gne.3	+	49	9705	c.9637G>A	c.(9637-9639)Gtc>Atc	p.V3213I	DNAH9_uc010coo.3_Missense_Mutation_p.V2507I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3213	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V3213V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGCTAAGGTCACCATGGC	0.562													28	54					0	0	1	0	0	A	11757449	G	A	11757449	3	1	127	1	0	0	0	0	1	0	0	0	4608	1261	44	2	9835	2	DNAH9	17	11757449	Missense_Mutation	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08		11757449	69437761	7	2158											
EVPL	2125	broad.mit.edu	37	chr17	74011029	74011029	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtcccctacggcgtggtaGcggtcggtgagggctcgcac	17	12	0	1			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr17:74011029G>C	uc010wss.1	-	16	2484	c.2256C>G	c.(2254-2256)cgC>cgG	p.R752R	EVPL_uc002jqi.2_Silent_p.R730R|EVPL_uc010wst.1_Silent_p.R200R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	730	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGGCGTGGTAGCGGTCGGTGA	0.667													12	21					0	0	1	0	0	C	74011029	G	C	74011029	2	2	127	1	0	0	0	0	0	0	0	1	5292	958	34	4		4	EVPL	17	74011029	Silent	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08	62253580	74011029	7184181	8	2159											
DHX16	8449	broad.mit.edu	37	chr6	30633345	30633345	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccggtactcccgggcgagatCccgcactcgccgcttatatt	10	16	0	1			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr6:30633345C>G	uc003nqz.3	-	4	1044	c.832G>C	c.(832-834)Gat>Cat	p.D278H	DHX16_uc011dmo.2_Missense_Mutation_p.D218H	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	278					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CGGGCGAGATCCCGCACTCGC	0.632													12	58					0	0	1	0	0	G	30633345	C	G	30633345	3	3	128	1	0	0	0	0	1	0	0	0	4502	855	30	4	2357	4	DHX16	6	30633345	Missense_Mutation	SNP	C	TCGA-DJ-A4UP-01A-11D-A257-08		30633345	140481722	1	2160											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24250806	24250806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagttcaatatcagaTgatcttaaatggagaagaaa	8	5	3	5			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr8:24250806T>C	uc003xdz.2	+	2	459	c.239T>C	c.(238-240)aTg>aCg	p.M80T	ADAMDEC1_uc010lub.2_Missense_Mutation_p.M1T|ADAMDEC1_uc011lab.1_Missense_Mutation_p.M1T	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	80					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAATATCAGATGATCTTAAAT	0.303													6	53					0	0	1	0	0	C	24250806	T	C	24250806	3	2	128	1	0	0	0	0	1	0	0	0	254	1464	51	3	249	3	ADAMDEC1	8	24250806	Missense_Mutation	SNP	T	TCGA-DJ-A4UP-01A-11D-A257-08		24250806	122113216	2	2161											
LIN37	55957	broad.mit.edu	37	chr19	36245363	36245363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatcctacgagagatgtaCgaacgacagtgatgttccca	10	9	0	3			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr19:36245363C>T	uc021usw.1	+	8	1093	c.729C>T	c.(727-729)taC>taT	p.Y243Y	AL137752_uc002obl.3_5'Flank	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	Homo sapiens lin-37 homolog (C. elegans) (LIN37), mRNA.	243							protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAGATGTACGAACGACAGT	0.577													6	25					0	0	1	0	0	T	36245363	C	T	36245363	2	4	128	1	0	0	0	0	0	0	0	1	8807	547	19	1		1	LIN37	19	36245363	Silent	SNP	C	TCGA-DJ-A4UP-01A-11D-A257-08		36245363	22883620	3	2162											
ZNF74	7625	broad.mit.edu	37	chr22	20759722	20759722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatttgcaaagaagaaccGgcccaggagcccatcatgga	12	11	1	2			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr22:20759722G>A	uc010gsm.3	+	5	611	c.399G>A	c.(397-399)ccG>ccA	p.P133P	ZNF74_uc002zsg.3_Silent_p.P62P|ZNF74_uc002zsh.3_Silent_p.P133P|ZNF74_uc002zsi.3_Silent_p.P62P|ZNF74_uc010gsn.3_Silent_p.P62P	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	133					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AAGAAGAACCGGCCCAGGAGC	0.627													14	59					0	0	1	0	0	A	20759722	G	A	20759722	2	1	128	1	0	0	0	0	0	0	0	1	18124	1103	39	1		1	ZNF74	22	20759722	Silent	SNP	G	TCGA-DJ-A4UP-01A-11D-A257-08		20759722	30544844	4	2163											
ZXDA	7789	broad.mit.edu	37	chrX	57936620	57936620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgctaggttgatGgggcctcggcgcgaacaggc	17	14	0	1	rs151072020		TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chrX:57936620G>C	uc004dve.3	-	0	448	c.235C>G	c.(235-237)Cat>Gat	p.H79D		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	79					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CTAGGTTGATGGGGCCTCGGC	0.756													3	23					0	0	1	0	0	C	57936620	G	C	57936620	3	2	128	1	0	0	0	0	1	0	0	0	18247	1348	47	4	2168	4	ZXDA	23	57936620	Missense_Mutation	SNP	G	TCGA-DJ-A4UP-01A-11D-A257-08		57936620	97333940	5	2164			1	7		2	2	14	G		2.519639e-06
ZXDA	7789	broad.mit.edu	37	chrX	57936633	57936633	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggttgatggggcctcggcgcGaacaggcttgggccagggcc	19	11	0	1			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chrX:57936633G>C	uc004dve.3	-	0	435	c.222C>G	c.(220-222)ttC>ttG	p.F74L		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	74					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GCCTCGGCGCGAACAGGCTTG	0.761													3	21					0	0	1	0	0	C	57936633	G	C	57936633	3	2	128	1	0	0	0	0	1	0	0	0	18247	1049	37	4	2181	4	ZXDA	23	57936633	Missense_Mutation	SNP	G	TCGA-DJ-A4UP-01A-11D-A257-08	13	57936633	97333927	6	2165			1	7		2	2	14	G		2.519639e-06
NPPA	4878	broad.mit.edu	37	chr1	11907290	11907290	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccctcagcttgctttttagGagggcagatcgatcagagga	13	9	2	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:11907290G>T	uc001ati.3	-	1	429	c.330C>A	c.(328-330)ctC>ctA	p.L110L	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	110					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTTTTAGGAGGGCAGATC	0.667													7	127					0	0	1	0	0	T	11907290	G	T	11907290	2	4	129	1	0	0	0	0	0	0	0	1	10591	1161	41	4		4	NPPA	1	11907290	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		11907290	237343331	1	2166											
WDR47	22911	broad.mit.edu	37	chr1	109560177	109560177	+	Nonsense_Mutation	SNP	G	G	A													ttccatacattctagaggctGaatgaactgaagaacttcat							TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560177G>A	uc001dwl.3	-	2	581	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	WDR47_uc001dwi.3_Nonsense_Mutation_p.Q69*|WDR47_uc001dwj.3_Nonsense_Mutation_p.Q69*|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.2_5'UTR	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	69	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCTAGAGGCTGAATGAACTGA	0.308													5	49					0	0	1	0	0	A	109560177	G	A	109560177	4	1	129	1	0	0	0	0	0	1	0	0	17297	1299	45	2	2630	2	WDR47	1	109560177	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	97652887	109560177	139690444	2	2167	3	2									
WDR47	22911	broad.mit.edu	37	chr1	109560186	109560186	+	Nonsense_Mutation	SNP	G	G	A													ttctagaggctgaatgaactGaagaacttcatcccattgac							TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560186G>A	uc001dwl.3	-	2	572	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	WDR47_uc001dwi.3_Nonsense_Mutation_p.Q66*|WDR47_uc001dwj.3_Nonsense_Mutation_p.Q66*|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.2_5'UTR	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	66	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAATGAACTGAAGAACTTCA	0.308													4	48					0	0	1	0	0	A	109560186	G	A	109560186	4	1	129	1	0	0	0	0	0	1	0	0	17297	1299	45	2	2639	2	WDR47	1	109560186	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	9	109560186	139690435	3	2168	3	2									
ASTN1	460	broad.mit.edu	37	chr1	176852036	176852036	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcatcgtatgatcagagaGatggtggtgagctgcttgtc	15	6	1	4			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:176852036G>A	uc001glc.3	-	19	3533	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	ASTN1_uc001glb.1_Silent_p.I1107I|ASTN1_uc001gld.1_Silent_p.I1107I	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1115	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATCAGAGAGATGGTGGTGA	0.507													7	46					0	0	1	0	0	A	176852036	G	A	176852036	2	1	129	1	0	0	0	0	0	0	0	1	1064	932	33	2		2	ASTN1	1	176852036	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	67291850	176852036	72398585	4	2169											
USH2A	7399	broad.mit.edu	37	chr1	215844402	215844402	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttaggactggattggattttCtaggctgagttgctatttgt	12	4	1	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:215844402C>G	uc001hku.1	-	63	14432	c.14045G>C	c.(14044-14046)aGa>aCa	p.R4682T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4682	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGATTTTCTAGGCTGAGT	0.388										HNSCC(13;0.011)			10	106					0	0	1	0	0	G	215844402	C	G	215844402	3	3	129	1	0	0	0	0	1	0	0	0	17033	913	32	4	1599	4	USH2A	1	215844402	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	38992366	215844402	33406219	5	2170											
TARBP1	6894	broad.mit.edu	37	chr1	234528271	234528271	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctgttttcttctgctgcaGataatcaattagctgaggtg	9	7	4	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:234528271G>C	uc001hwd.3	-	28	4588	c.4588C>G	c.(4588-4590)Ctg>Gtg	p.L1530V		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1530					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity	p.L1530V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTCTGCTGCAGATAATCAATT	0.348													18	85					0	0	1	0	0	C	234528271	G	C	234528271	3	2	129	1	0	0	0	0	1	0	0	0	15552	933	33	4	285	4	TARBP1	1	234528271	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	18683869	234528271	14722350	6	2171											
EIF2AK2	5610	broad.mit.edu	37	chr2	37334481	37334481	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtcaaggtccttagtatttCagatgtgttaggtcgatcct	10	7	2	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:37334481C>T	uc010ynh.2	-	16	2148	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	EIF2AK2_uc010fab.2_Missense_Mutation_p.E490K|EIF2AK2_uc010yng.2_Missense_Mutation_p.E488K|EIF2AK2_uc010fac.3_Missense_Mutation_p.E531K	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	531	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTTAGTATTTCAGATGTGTTA	0.383													4	58					0	0	1	0	0	T	37334481	C	T	37334481	3	4	129	1	0	0	0	0	1	0	0	0	4997	835	29	2	68	2	EIF2AK2	2	37334481	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		37334481	205864892	7	2172											
CHST10	9486	broad.mit.edu	37	chr2	101009860	101009860	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaatgcccggagggatagtCgggtatgacaccaggtggtc	16	8	0	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:101009860C>T	uc002tam.3	-	6	1316	c.918G>A	c.(916-918)ccG>ccA	p.P306P		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	306					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGGGATAGTCGGGTATGACA	0.522													8	89					0	0	1	0	0	T	101009860	C	T	101009860	2	4	129	1	0	0	0	0	0	0	0	1	3398	871	31	1		1	CHST10	2	101009860	Silent	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	63675379	101009860	142189513	8	2173											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924339	105924339	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttctgcgtttgacagagatGatgcaaacttctacacagaa	9	8	2	4			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:105924339G>A	uc002tcq.3	-	1	504	c.420C>T	c.(418-420)atC>atT	p.I140I	TGFBRAP1_uc002tcr.4_Silent_p.I140I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	140	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGACAGAGATGATGCAAACTT	0.592													26	131					0	0	1	0	0	A	105924339	G	A	105924339	2	1	129	1	0	0	0	0	0	0	0	1	15821	1280	45	2		2	TGFBRAP1	2	105924339	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	4914479	105924339	137275034	9	2174											
WDR33	55339	broad.mit.edu	37	chr2	128467330	128467330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggccgcttcctcagaagcatCaaaattctcctctggaccaa	7	14	4	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:128467330C>T	uc002tpg.2	-	18	3608	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1137					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCAGAAGCATCAAAATTCTCC	0.577													7	131					0	0	1	0	0	T	128467330	C	T	128467330	3	4	129	1	0	0	0	0	1	0	0	0	17284	826	29	2	617	2	WDR33	2	128467330	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	22542991	128467330	114732043	10	2175											
DNAH1	25981	broad.mit.edu	37	chr3	52393384	52393384	+	Frame_Shift_Del	DEL	C	C	-													aacctcagaagccaactgttCccccagctctgccagcaggt							TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:52393384delC	uc011bef.2	+	25	4650	c.4389delC	c.(4387-4389)ttcfs	p.F1463fs		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1463	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCAACTGTTCCCCCAGCTCT	0.637													2	4	---	---	---	---						-	52393384	C	-	52393384	7	5	129	1	0	1	0	1	0	0	0	0	4597	854	30	0	4487	0	DNAH1	3	52393384	Frame_Shift_Del	DEL	C	TCGA-DJ-A4UT-01A-11D-A257-08		52393384	145629046	11	2176											
RNF13	11342	broad.mit.edu	37	chr3	149677884	149677884	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatttgtttggatgagtatGaagatggagacaaactcaga	11	5	1	5			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:149677884G>A	uc003exn.4	+	9	1526	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RNF13_uc003exp.4_Missense_Mutation_p.E248K|RNF13_uc010hvh.3_Missense_Mutation_p.E129K	NM_007282	NP_899237	O43567	RNF13_HUMAN	Homo sapiens ring finger protein 13 (RNF13), transcript variant 1, mRNA.	248					protein autoubiquitination	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGATGAGTATGAAGATGGAGA	0.323													14	116					0	0	1	0	0	A	149677884	G	A	149677884	3	1	129	1	0	0	0	0	1	0	0	0	13437	1291	45	2	772	2	RNF13	3	149677884	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	97284500	149677884	48344546	12	2177											
UGT2B7	7364	broad.mit.edu	37	chr4	69962284	69962284	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctaatacaactgagcTtttgctttagctctgggaat	8	7	1	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr4:69962284T>A	uc003heg.4	+	0	92	c.46T>A	c.(46-48)Ttt>Att	p.F16I	UGT2B7_uc010ihq.3_Missense_Mutation_p.F16I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	16					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAACTGAGCTTTTGCTTTAG	0.418													33	67					0	0	1	0	0	A	69962284	T	A	69962284	3	1	129	1	0	0	0	0	1	0	0	0	16959	1609	56	5	48	5	UGT2B7	4	69962284	Missense_Mutation	SNP	T	TCGA-DJ-A4UT-01A-11D-A257-08		69962284	121191992	13	2178											
C6	729	broad.mit.edu	37	chr5	41203192	41203192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaaagctcacacccacctGtgtctgctctgggttccaga	8	15	3	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:41203192G>T	uc003jmk.2	-	1	351	c.141C>A	c.(139-141)caC>caA	p.H47Q	C6_uc003jml.1_Missense_Mutation_p.H47Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	47	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACACCCACCTGTGTCTGCTCT	0.483													25	164					0	0	1	0	0	T	41203192	G	T	41203192	3	4	129	1	0	0	0	0	1	0	0	0	2315	1368	48	4	2731	4	C6	5	41203192	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		41203192	139712068	14	2179											
LNPEP	4012	broad.mit.edu	37	chr5	96349489	96349489	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaatccttatgttctgagtGacaaagaccgagccaacctt	7	10	1	3			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:96349489G>A	uc003kmv.1	+	11	2687	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	LNPEP_uc003kmw.1_Missense_Mutation_p.D711N	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	725					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTCTGAGTGACAAAGACCG	0.328													19	118					0	0	1	0	0	A	96349489	G	A	96349489	3	1	129	1	0	0	0	0	1	0	0	0	8864	1290	45	2	2219	2	LNPEP	5	96349489	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	55146297	96349489	84565771	15	2180											
ZNF165	7718	broad.mit.edu	37	chr6	28056396	28056396	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaatttttgaaaaaatTgaatcacagagaattatatc	6	4	1	3			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr6:28056396T>C	uc021yro.1	+	3	1433	c.606T>C	c.(604-606)atT>atC	p.I202I	ZNF165_uc003nkh.3_Silent_p.I202I|ZNF165_uc003nki.4_Silent_p.I202I|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	202					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGAAAAAATTGAATCACAGA	0.363													33	74					0	0	1	0	0	C	28056396	T	C	28056396	2	2	129	1	0	0	0	0	0	0	0	1	17737	1800	63	3		3	ZNF165	6	28056396	Silent	SNP	T	TCGA-DJ-A4UT-01A-11D-A257-08		28056396	143058671	16	2181											
ZPBP	11055	broad.mit.edu	37	chr7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaaaagctcttggtaatcGaaccaagtgtccaactatca	8	10	2	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr7:50129291G>A	uc003tou.3	-	1	212	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_uc010kyw.3_Nonsense_Mutation_p.R48*	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	48					binding of sperm to zona pellucida	extracellular region		p.R48L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284													3	22					0	0	1	0	0	A	50129291	G	A	50129291	4	1	129	1	0	0	0	0	0	1	0	0	18216	1066	37	1	941	1	ZPBP	7	50129291	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		50129291	109009372	17	2182											
LRRC19	64922	broad.mit.edu	37	chr9	26995683	26995683	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atttccagtaaaaccatcttCataggtttctgcttcatgct	5	10	4	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr9:26995683C>G	uc003zqh.3	-	4	1060	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q	IFT74_uc010mja.3_Intron|IFT74_uc010mjb.3_Intron|IFT74_uc003zqf.4_Intron|IFT74_uc003zqg.4_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA.	317						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343													8	60					0	0	1	0	0	G	26995683	C	G	26995683	3	3	129	1	0	0	0	0	1	0	0	0	8975	835	29	4	167	4	LRRC19	9	26995683	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		26995683	114217748	18	2183											
IDI2	91734	broad.mit.edu	37	chr10	1070568	1070568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caattcctcttggtgtcggcAccaataaccttatcattctc	5	13	3	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:1070568A>G	uc001ifv.1	-	1	161	c.96T>C	c.(94-96)ggT>ggC	p.G32G	IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.	32					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TGGTGTCGGCACCAATAACCT	0.473													18	41					0	0	1	0	0	G	1070568	A	G	1070568	2	3	129	1	0	0	0	0	0	0	0	1	7500	146	6	3		3	IDI2	10	1070568	Silent	SNP	A	TCGA-DJ-A4UT-01A-11D-A257-08		1070568	134464179	19	2184											
SPAG6	9576	broad.mit.edu	37	chr10	22675710	22675710	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acaagctgtggtggatgcagGagctgttcctcttttagtac	12	8	1	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:22675710G>C	uc001iri.3	+	4	667	c.500G>C	c.(499-501)gGa>gCa	p.G167A	SPAG6_uc010qct.2_Missense_Mutation_p.G142A|SPAG6_uc009xkh.3_Missense_Mutation_p.G145A|SPAG6_uc001irj.3_Missense_Mutation_p.G167A|SPAG6_uc021poe.1_5'UTR	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	167					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTGGATGCAGGAGCTGTTCCT	0.463													4	72					0	0	1	0	0	C	22675710	G	C	22675710	3	2	129	1	0	0	0	0	1	0	0	0	14982	1174	41	4	518	4	SPAG6	10	22675710	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	21605142	22675710	112859037	20	2185											
GBF1	8729	broad.mit.edu	37	chr10	104140004	104140004	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggggctggtgggccatAggtcttcctgcagcacctgt	16	10	1	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:104140004A>C	uc001kux.2	+	37	5170	c.4876_splice	c.e37-2	p.V1626_splice	GBF1_uc001kuy.2_Splice_Site_p.V1622_splice|GBF1_uc001kuz.2_Splice_Site_p.V1623_splice	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1626					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGTGGGCCATAGGTCTTCCTG	0.572													19	57					0	0	1	0	0	C	104140004	A	C	104140004	5	2	129	1	0	0	0	0	0	0	1	0	6271	434	15	5	5016	5	GBF1	10	104140004	Splice_Site	SNP	A	TCGA-DJ-A4UT-01A-11D-A257-08	81464294	104140004	31394743	21	2186											
SLC25A45	283130	broad.mit.edu	37	chr11	65144371	65144371	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaccgtgggggtgtccctCagcgtcagggcccaggctcc	14	17	2	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65144371C>A	uc001odr.1	-	5	720	c.516G>T	c.(514-516)ctG>ctT	p.L172L	SLC25A45_uc009yqi.1_Silent_p.L110L|SLC25A45_uc001odq.1_Silent_p.L148L|SLC25A45_uc001ods.1_Silent_p.L130L|SLC25A45_uc001odt.1_Silent_p.L130L	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	172					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GGGTGTCCCTCAGCGTCAGGG	0.652													20	124					0	0	1	0	0	A	65144371	C	A	65144371	2	1	129	1	0	0	0	0	0	0	0	1	14510	813	29	4		4	SLC25A45	11	65144371	Silent	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		65144371	69862145	22	2187											
PACS1	55690	broad.mit.edu	37	chr11	65838203	65838203	+	Frame_Shift_Del	DEL	G	G	-													atggccgtggcggtggcctcGggctccgcgcctcccggtgg							TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65838203delG	uc001oha.2	+	0	380	c.246delG	c.(244-246)tcgfs	p.S82fs	PACS1_uc001ogz.1_Frame_Shift_Del_p.S82fs	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	82	Ser-rich.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CGGTGGCCTCGGGCTCCGCGC	0.741													2	4	---	---	---	---						-	65838203	G	-	65838203	7	5	129	1	0	1	0	1	0	0	0	0	11372	1103	39	0	248	0	PACS1	11	65838203	Frame_Shift_Del	DEL	G	TCGA-DJ-A4UT-01A-11D-A257-08	693832	65838203	69168313	23	2188											
SSH3	54961	broad.mit.edu	37	chr11	67075408	67075408	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggagagtgtcacttccaaaGaggtgggcagggggcccggg	19	8	1	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:67075408G>C	uc001okj.3	+	7	1061	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Missense_Mutation_p.E149Q	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	295					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACTTCCAAAGAGGTGGGCAG	0.617													4	34					0	0	1	0	0	C	67075408	G	C	67075408	3	2	129	1	0	0	0	0	1	0	0	0	15185	943	33	4	913	4	SSH3	11	67075408	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	1237205	67075408	67931108	24	2189											
STT3A	3703	broad.mit.edu	37	chr11	125490695	125490695	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggataatcgaggcttgtCaaggacataaatgtcacgtc	10	9	2	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:125490695C>T	uc001qcd.2	+	17	2218	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	STT3A_uc001qce.2_Missense_Mutation_p.S703L|STT3A_uc010sbg.1_Missense_Mutation_p.S611L|STT3A_uc009zbn.2_Missense_Mutation_p.S425L	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	703					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CGAGGCTTGTCAAGGACATAA	0.338													4	37					0	0	1	0	0	T	125490695	C	T	125490695	3	4	129	1	0	0	0	0	1	0	0	0	15332	838	29	2	2174	2	STT3A	11	125490695	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	58415287	125490695	9515821	25	2190											
GRIN2B	2904	broad.mit.edu	37	chr12	13715749	13715749	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaatactagaaagtttctCataaacatgcccattgctgg	6	10	2	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr12:13715749C>T	uc001rbt.2	-	12	4602	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1475					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAAGTTTCTCATAAACATGC	0.498													13	109					0	0	1	0	0	T	13715749	C	T	13715749	3	4	129	1	0	0	0	0	1	0	0	0	6780	835	29	2	35	2	GRIN2B	12	13715749	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		13715749	120136146	26	2191											
FBN1	2200	broad.mit.edu	37	chr15	48826312	48826312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacttcattaagtttgtgtCcagcagggcatttgcactca	8	10	2	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:48826312C>T	uc001zwx.2	-	7	1222	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	276	EGF-like 4; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAGTTTGTGTCCAGCAGGGCA	0.453													45	282					0	0	1	0	0	T	48826312	C	T	48826312	3	4	129	1	0	0	0	0	1	0	0	0	5702	855	30	2	8024	2	FBN1	15	48826312	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		48826312	53705080	27	2192											
AP4E1	23431	broad.mit.edu	37	chr15	51276303	51276303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctggcatttctcttggttCagatgtatctgggaatagtg	12	6	3	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:51276303C>T	uc001zyx.2	+	15	2158	c.2051C>T	c.(2050-2052)tCa>tTa	p.S684L	AP4E1_uc021skz.1_Missense_Mutation_p.S609L	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	684					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTCTTGGTTCAGATGTATCT	0.383													6	81					0	0	1	0	0	T	51276303	C	T	51276303	3	4	129	1	0	0	0	0	1	0	0	0	752	838	29	2	2113	2	AP4E1	15	51276303	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	2449991	51276303	51255089	28	2193											
ABCA9	10350	broad.mit.edu	37	chr17	67013890	67013890	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccacttctatagctatgttCtgtcgcctcagtgaatgtaa	7	10	3	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67013890C>G	uc002jhu.3	-	20	2951	c.2808G>C	c.(2806-2808)caG>caC	p.Q936H	ABCA9_uc010dez.3_Missense_Mutation_p.Q936H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	936					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGCTATGTTCTGTCGCCTCA	0.368													21	181					0	0	1	0	0	G	67013890	C	G	67013890	3	3	129	1	0	0	0	0	1	0	0	0	39	912	32	4	2142	4	ABCA9	17	67013890	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		67013890	14181320	29	2194											
ABCA5	23461	broad.mit.edu	37	chr17	67261047	67261047	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttgagtataagctttgatCtaaaaaaaatgaaaaacaat	6	3	1	3			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67261047C>G	uc002jif.2	-	23	4363	c.3145_splice	c.e23-1	p.I1049_splice	ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1049					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAGCTTTGATCTAAAAAAAAT	0.259													4	44					0	0	1	0	0	G	67261047	C	G	67261047	5	3	129	1	0	0	0	0	0	0	1	0	35	927	32	4	1848	4	ABCA5	17	67261047	Splice_Site	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	247157	67261047	13934163	30	2195											
ZNF560	147741	broad.mit.edu	37	chr19	9578758	9578758	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtgccttcaaaggatttatCttgtgtacactttctctgga	8	8	3	0			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:9578758C>G	uc002mlp.1	-	9	1075	c.865G>C	c.(865-867)Gat>Cat	p.D289H	ZNF560_uc010dwr.1_Missense_Mutation_p.D183H	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D289Y(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAGGATTTATCTTGTGTACAC	0.383													8	80					0	0	1	0	0	G	9578758	C	G	9578758	3	3	129	1	0	0	0	0	1	0	0	0	17988	913	32	4	1511	4	ZNF560	19	9578758	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		9578758	49550225	31	2196											
PPP1R13L	10848	broad.mit.edu	37	chr19	45901546	45901546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagttcatgtccagaaagtCccgcgcgctctggaatgcct	11	12	2	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:45901546C>T	uc002pbn.3	-	1	108	c.31G>A	c.(31-33)Gac>Aac	p.D11N	PPP1R13L_uc002pbo.3_Missense_Mutation_p.D11N|PPP1R13L_uc002pbp.2_Missense_Mutation_p.D11N	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	11					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCCAGAAAGTCCCGCGCGCTC	0.706													5	32					0	0	1	0	0	T	45901546	C	T	45901546	3	4	129	1	0	0	0	0	1	0	0	0	12358	855	30	2	2503	2	PPP1R13L	19	45901546	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	36322788	45901546	13227437	32	2197											
BCL2L12	83596	broad.mit.edu	37	chr19	50169168	50169168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggagcgtcacatgcaaattGagcgtgcacccagcgttccg	13	12	1	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:50169168G>A	uc002ppa.3	+	0	770	c.88G>A	c.(88-90)Gag>Aag	p.E30K	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_5'Flank|IRF3_uc021uxq.1_5'Flank|IRF3_uc002pot.2_5'Flank|IRF3_uc021uxr.1_5'Flank|IRF3_uc021uxs.1_5'Flank|IRF3_uc002pow.3_5'Flank|IRF3_uc021uxo.1_5'Flank|IRF3_uc002pou.3_5'Flank|IRF3_uc010end.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.E30K	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	30					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CATGCAAATTGAGCGTGCACC	0.602													14	26					0	0	1	0	0	A	50169168	G	A	50169168	3	1	129	1	0	0	0	0	1	0	0	0	1370	1291	45	2	90	2	BCL2L12	19	50169168	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	4267622	50169168	8959815	33	2198											
ZNF528	84436	broad.mit.edu	37	chr19	52909178	52909178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agggacccttgaaattcatgGatgtggccatagagttctct	11	8	2	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:52909178G>T	uc002pzh.3	+	4	460	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAATTCATGGATGTGGCCAT	0.458													16	137					0	0	1	0	0	T	52909178	G	T	52909178	3	4	129	1	0	0	0	0	1	0	0	0	17966	1174	41	4	40	4	ZNF528	19	52909178	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	2740010	52909178	6219805	34	2199											
SYT5	6861	broad.mit.edu	37	chr19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-													acgatggtggccagggcccaGgggggcactgcagaggggtg							TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:55689729delG	uc002qjm.1	-	1	1147	c.87delC	c.(85-87)cccfs	p.P29fs	SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Frame_Shift_Del_p.P29fs|SYT5_uc002qjo.1_Frame_Shift_Del_p.P29fs	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	29					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P29L(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602													2	4	---	---	---	---						-	55689729	G	-	55689729	7	5	129	1	0	1	0	1	0	0	0	0	15474	987	35	0	1101	0	SYT5	19	55689729	Frame_Shift_Del	DEL	G	TCGA-DJ-A4UT-01A-11D-A257-08	2780551	55689729	3439254	35	2200											
C20orf152	140894	broad.mit.edu	37	chr20	34618286	34618286	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcctgccctttagtgatgaaGatatgtgccagaagttcctc	10	10	0	4			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:34618286G>C	uc002xer.1	+	11	1591	c.1435G>C	c.(1435-1437)Gat>Cat	p.D479H	C20orf152_uc002xes.1_3'UTR|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	483										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TAGTGATGAAGATATGTGCCA	0.567													10	88					0	0	1	0	0	C	34618286	G	C	34618286	3	2	129	1	0	0	0	0	1	0	0	0	2092	942	33	4	1481	4	C20orf152	20	34618286	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		34618286	28407234	36	2201											
SPATA2	9825	broad.mit.edu	37	chr20	48522886	48522886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccacatccgttgccacaGgctccttccgaagactcaat	6	18	1	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:48522886G>A	uc010gie.3	-	2	1183	c.833C>T	c.(832-834)cCt>cTt	p.P278L	SPATA2_uc002xuw.3_Missense_Mutation_p.P278L|SPATA2_uc010zyn.2_Missense_Mutation_p.P141L	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	278					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		p.P278P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGTTGCCACAGGCTCCTTCCG	0.637													8	76					0	0	1	0	0	A	48522886	G	A	48522886	3	1	129	1	0	0	0	0	1	0	0	0	15004	1000	35	2	733	2	SPATA2	20	48522886	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	13904600	48522886	14502634	37	2202											
PHKA2	5256	broad.mit.edu	37	chrX	18970621	18970621	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttctgcctacctgtctcatCatgcactggagaagacctcg	9	13	3	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:18970621C>T	uc004cyv.4	-	2	706	c.276G>A	c.(274-276)atG>atA	p.M92I	PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_Missense_Mutation_p.M34I	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	92					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCTGTCTCATCATGCACTGGA	0.478													6	58					0	0	1	0	0	T	18970621	C	T	18970621	3	4	129	1	0	0	0	0	1	0	0	0	11844	826	29	2	3555	2	PHKA2	23	18970621	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		18970621	136299939	38	2203											
RAB33A	9363	broad.mit.edu	37	chrX	129318340	129318340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcaacgtacatgccgtgGtcttcgtctatgacgtcacc	9	14	3	1			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:129318340G>T	uc004evl.3	+	1	604	c.340G>T	c.(340-342)Gtc>Ttc	p.V114F	RAB33A_uc010nre.3_Non-coding_Transcript	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Homo sapiens RAB33A, member RAS oncogene family (RAB33A), mRNA.	114					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						ACATGCCGTGGTCTTCGTCTA	0.502													16	47					0	0	1	0	0	T	129318340	G	T	129318340	3	4	129	1	0	0	0	0	1	0	0	0	12922	1261	44	4	346	4	RAB33A	23	129318340	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	110347719	129318340	25952220	39	2204											
ARHGAP4	393	broad.mit.edu	37	chrX	153184648	153184648	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatgcaggtagtagttactGacagcagcgttgacactagc	11	9	1	2			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:153184648G>A	uc004fjl.2	-	6	949	c.891C>T	c.(889-891)gtC>gtT	p.V297V	ARHGAP4_uc011mzf.2_Silent_p.V234V|ARHGAP4_uc004fjk.2_Silent_p.V257V|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001164741	NP_001158213	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 1, mRNA.	257					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGTTACTGACAGCAGCGT	0.572													9	76					0	0	1	0	0	A	153184648	G	A	153184648	2	1	129	1	0	0	0	0	0	0	0	1	885	1277	45	2		2	ARHGAP4	23	153184648	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	23866308	153184648	2085912	40	2205											
PADI6	353238	broad.mit.edu	37	chr1	17720532	17720532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtccttgatcctcgacaCacctcaggccgccgatctcg	8	17	2	1			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr1:17720532C>T	uc001bak.1	+	10	1136	c.1136C>T	c.(1135-1137)aCa>aTa	p.T379I		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	371					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATCCTCGACACACCTCAGGCC	0.542													6	29					0	0	1	0	0	T	17720532	C	T	17720532	3	4	130	1	0	0	0	0	1	0	0	0	11381	478	17	2	1175	2	PADI6	1	17720532	Missense_Mutation	SNP	C	TCGA-DJ-A4UW-01A-11D-A257-08		17720532	231530089	1	2206											
OR10X1	128367	broad.mit.edu	37	chr1	158548923	158548923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtgaggtgggaggcacagGtggtgaaggccttctgcttg	19	7	1	2			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr1:158548923G>T	uc010pin.2	-	0	767	c.767C>A	c.(766-768)aCc>aAc	p.T256N		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T256S(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGAGGCACAGGTGGTGAAGGC	0.483													7	132					0	0	1	0	0	T	158548923	G	T	158548923	3	4	130	1	0	0	0	0	1	0	0	0	10922	1261	44	4	208	4	OR10X1	1	158548923	Missense_Mutation	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08	140828391	158548923	90701698	2	2207											
APC	324	broad.mit.edu	37	chr5	112176431	112176431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgtaaccatacctgaattgGatgacaataaagcagaggaa	9	7	0	3	rs148275069		TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr5:112176431G>T	uc003kpz.4	+	16	5333	c.5140G>T	c.(5140-5142)Gat>Tat	p.D1714Y	APC_uc011cvt.2_Missense_Mutation_p.D1696Y|APC_uc003kpy.4_Missense_Mutation_p.D1714Y|APC_uc010jbz.3_Missense_Mutation_p.D1431Y|APC_uc010jca.3_Missense_Mutation_p.D1014Y	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1714	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACCTGAATTGGATGACAATAA	0.403		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			10	28					0	0	1	0	0	T	112176431	G	T	112176431	3	4	130	1	0	0	0	0	1	0	0	0	763	1174	41	4	5198	4	APC	5	112176431	Missense_Mutation	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08		112176431	68738829	3	2208											
NSD1	64324	broad.mit.edu	37	chr5	176673763	176673763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtaaaaaagtgaaaaAtgatgactcgtcaaaagaga	10	4	1	4			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr5:176673763A>G	uc003mfr.4	+	9	4601	c.4463A>G	c.(4462-4464)aAt>aGt	p.N1488S	NSD1_uc003mft.4_Missense_Mutation_p.N1219S|NSD1_uc003mfs.1_Missense_Mutation_p.N1385S|NSD1_uc011dfx.2_Missense_Mutation_p.N1136S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1488					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAGTGAAAAATGATGACTCG	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	27					0	0	1	0	0	G	176673763	A	G	176673763	3	3	130	1	0	0	0	0	1	0	0	0	10669	101	4	3	4497	3	NSD1	5	176673763	Missense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08	64497332	176673763	4241497	4	2209											
TSPYL1	7259	broad.mit.edu	37	chr6	116600261	116600261	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggaaggccctgtcggcctGagcattcacagtgtccagtt	12	11	1	1			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr6:116600261G>A	uc003pwp.4	-	0	1020	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	Homo sapiens TSPY-like 1 (TSPYL1), mRNA.	245					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTGTCGGCCTGAGCATTCACA	0.597													20	36					0	0	1	0	0	A	116600261	G	A	116600261	4	1	130	1	0	0	0	0	0	1	0	0	16656	1299	45	2	584	2	TSPYL1	6	116600261	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08		116600261	54514806	5	2210											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	38					0	0	1	0	0	T	140453136	A	T	140453136	3	4	130	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08		140453136	18685527	6	2211											
MAPKBP1	23005	broad.mit.edu	37	chr15	42114280	42114280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggattacagcagcagctgCctttccagcccggagcaccc	11	15	0	0			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr15:42114280C>T	uc001zok.4	+	25	3307	c.3021C>T	c.(3019-3021)tgC>tgT	p.C1007C	MAPKBP1_uc010bci.3_Silent_p.C1001C|MAPKBP1_uc010udb.2_Silent_p.C840C|MAPKBP1_uc001zoj.4_Silent_p.C1001C|MAPKBP1_uc010bcj.3_Silent_p.C508C|MAPKBP1_uc010bck.3_Silent_p.C218C|MAPKBP1_uc010bcl.3_Silent_p.C508C	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1007										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAGCAGCTGCCTTTCCAGCC	0.647													6	10					0	0	1	0	0	T	42114280	C	T	42114280	2	4	130	1	0	0	0	0	0	0	0	1	9292	747	26	2		2	MAPKBP1	15	42114280	Silent	SNP	C	TCGA-DJ-A4UW-01A-11D-A257-08		42114280	60417112	7	2212											
RCVRN	5957	broad.mit.edu	37	chr17	9801501	9801501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgtcccctcaatgaAttctttctctgtaagtttat	7	10	3	1			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr17:9801501A>G	uc002gme.1	-	2	701	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L		NM_002903	NP_002894	P35243	RECO_HUMAN	Homo sapiens recoverin (RCVRN), mRNA.	172	EF-hand 4.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCCTCAATGAATTCTTTCTCT	0.413													46	99					0	0	1	0	0	G	9801501	A	G	9801501	3	3	130	1	0	0	0	0	1	0	0	0	13186	101	4	3	92	3	RCVRN	17	9801501	Missense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08		9801501	71393709	8	2213											
CSF2RA	1438	broad.mit.edu	37	chrX	1428413	1428413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatggacatctccgcctcCgcgacacgggggaactgttt	13	13	1	0			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chrX:1428413C>T	uc004cpp.2	+	10	1259	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	CRLF2_uc022brt.1_Intron|CSF2RA_uc010nct.2_3'UTR|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_3'UTR|CSF2RA_uc004cpo.2_3'UTR|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_3'UTR|CSF2RA_uc010ncv.2_3'UTR|CSF2RA_uc004cpr.2_3'UTR	NM_172246	NP_758449	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 3, mRNA.	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTCCGCCTCCGCGACACGGG	0.498													9	152					0	0	1	0	0	T	1428413	C	T	1428413	2	4	130	1	0	0	0	0	0	0	0	1	3934	639	23	1		1	CSF2RA	23	1428413	Silent	SNP	C	TCGA-DJ-A4UW-01A-11D-A257-08		1428413	153842147	9	2214											
GLA	2717	broad.mit.edu	37	chrX	100658838	100658838	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccatgaggaaagcgctgAgggtctgcctgaagtctgcc	13	11	2	3			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chrX:100658838A>C	uc004ehl.1	-	1	440	c.330T>G	c.(328-330)ccT>ccG	p.P110P	RPL36A-HNRNPH2_uc022cag.1_Intron|RPL36A-HNRNPH2_uc022cah.1_Intron|GLA_uc011mrj.1_Silent_p.P110P	NM_000169	NP_000160	P06280	AGAL_HUMAN	Homo sapiens galactosidase, alpha (GLA), mRNA.	110					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	Golgi apparatus|extracellular region|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	GAAAGCGCTGAGGGTCTGCCT	0.463													8	94					0	0	1	0	0	C	100658838	A	C	100658838	2	2	130	1	0	0	0	0	0	0	0	1	6426	291	11	5		5	GLA	23	100658838	Silent	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08	99230425	100658838	54611722	10	2215											
GCKR	2646	broad.mit.edu	37	chr2	27728639	27728639	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggaagtgccaccaagattCtgctggaaaccctgttatta	10	9	1	1			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr2:27728639C>T	uc002rky.3	+	9	871	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	GCKR_uc010ezd.3_Silent_p.L269L|GCKR_uc010ylu.2_Silent_p.L79L	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	269	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CACCAAGATTCTGCTGGAAAC	0.532													4	75					0	0	1	0	0	T	27728639	C	T	27728639	2	4	131	1	0	0	0	0	0	0	0	1	6294	912	32	2		2	GCKR	2	27728639	Silent	SNP	C	TCGA-DJ-A4V0-01A-11D-A257-08		27728639	215470734	1	2216											
EYA4	2070	broad.mit.edu	37	chr6	133802618	133802618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggagagttcgataccatgCagagtccctccacacccatc	8	14	0	2			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr6:133802618C>A	uc011ecs.2	+	11	1322	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K	EYA4_uc011ecq.2_Missense_Mutation_p.Q276K|EYA4_uc011ecr.2_Missense_Mutation_p.Q282K|EYA4_uc003qec.4_Missense_Mutation_p.Q330K|EYA4_uc003qed.4_Missense_Mutation_p.Q330K|EYA4_uc003qee.4_Missense_Mutation_p.Q307K|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	330					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CGATACCATGCAGAGTCCCTC	0.413													13	100					0	0	1	0	0	A	133802618	C	A	133802618	3	1	131	1	0	0	0	0	1	0	0	0	5331	711	25	4	1030	4	EYA4	6	133802618	Missense_Mutation	SNP	C	TCGA-DJ-A4V0-01A-11D-A257-08		133802618	37312449	2	2217											
TCERG1L	256536	broad.mit.edu	37	chr10	132944819	132944819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtcctcaatgatcctgTtgaggtctccgcggtccttc	12	13	2	2			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr10:132944819T>C	uc001lkp.3	-	6	1225	c.1139A>G	c.(1138-1140)aAc>aGc	p.N380S	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	380										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AATGATCCTGTTGAGGTCTCC	0.542													4	46					0	0	1	0	0	C	132944819	T	C	132944819	3	2	131	1	0	0	0	0	1	0	0	0	15683	1725	60	3	645	3	TCERG1L	10	132944819	Missense_Mutation	SNP	T	TCGA-DJ-A4V0-01A-11D-A257-08		132944819	2589928	3	2218											
MBIP	51562	broad.mit.edu	37	chr14	36783808	36783808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaatgcagatattcgtcTgtcaatctacaaacaacaag	5	8	3	1			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr14:36783808T>C	uc001wtm.2	-	3	569	c.481A>G	c.(481-483)Aga>Gga	p.R161G	MBIP_uc001wto.2_Missense_Mutation_p.R161G|MBIP_uc010tpy.1_Missense_Mutation_p.R20G|MBIP_uc001wtn.2_Missense_Mutation_p.R161G	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	161					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GATATTCGTCTGTCAATCTAC	0.338													5	31					0	0	1	0	0	C	36783808	T	C	36783808	3	2	131	1	0	0	0	0	1	0	0	0	9349	1588	55	3	577	3	MBIP	14	36783808	Missense_Mutation	SNP	T	TCGA-DJ-A4V0-01A-11D-A257-08		36783808	70565732	4	2219											
MAN2B1	4125	broad.mit.edu	37	chr19	12777488	12777488	+	Frame_Shift_Del	DEL	C	C	-													caggcagccgcgagcgcagaCccccgaagcccgcgcgtagg							TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr19:12777488delC	uc002mub.2	-	0	104	c.28delG	c.(28-30)gtcfs	p.V10fs	MAN2B1_uc010dyv.1_Frame_Shift_Del_p.V10fs|WDR83_uc002muc.3_5'Flank|WDR83_uc002mue.4_5'Flank	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	10					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGAGCGCAGACCCCCGAAGCC	0.721													2	4	---	---	---	---						-	12777488	C	-	12777488	7	5	131	1	0	1	0	1	0	0	0	0	9216	507	18	0	3103	0	MAN2B1	19	12777488	Frame_Shift_Del	DEL	C	TCGA-DJ-A4V0-01A-11D-A257-08		12777488	46351495	5	2220											
CCBP2	1238	broad.mit.edu	37	chr3	42906480	42906480	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggacccgggccaagagcctGctccttgctaccatagtatg	11	13	0	1			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr3:42906480G>T	uc003cme.3	+	2	664	c.486G>T	c.(484-486)ctG>ctT	p.L162L	CCBP2_uc003cmf.3_Silent_p.L162L|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.L162L	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	162					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCAAGAGCCTGCTCCTTGCTA	0.537													30	73					0	0	1	0	0	T	42906480	G	T	42906480	2	4	132	1	0	0	0	0	0	0	0	1	2734	1306	46	4		4	CCBP2	3	42906480	Silent	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		42906480	155115950	1	2221											
ATR	545	broad.mit.edu	37	chr3	142266707	142266707	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattcattatgcaatccttGgaaatcttgtctcaacaggc	6	9	3	0			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr3:142266707G>A	uc003eux.4	-	15	3339	c.3217C>T	c.(3217-3219)Caa>Taa	p.Q1073*		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1073					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGCAATCCTTGGAAATCTTGT	0.348								Other conserved DNA damage response genes					16	32					0	0	1	0	0	A	142266707	G	A	142266707	4	1	132	1	0	0	0	0	0	1	0	0	1204	1357	47	2	4845	2	ATR	3	142266707	Nonsense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08	99360227	142266707	55755723	2	2222											
TDO2	6999	broad.mit.edu	37	chr4	156825198	156825198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaaaactccccgtagaaGgcagcgaagaagacaaatca	8	9	1	3			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr4:156825198G>T	uc003ipf.1	+	1	128	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	22					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CCCCGTAGAAGGCAGCGAAGA	0.388													20	36					0	0	1	0	0	T	156825198	G	T	156825198	3	4	132	1	0	0	0	0	1	0	0	0	15724	1000	35	4	70	4	TDO2	4	156825198	Missense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		156825198	34329078	3	2223											
CDH9	1007	broad.mit.edu	37	chr5	26903745	26903745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagacagtgaaaagaaaCctgtttgacagttataatcc	8	6	0	5			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr5:26903745C>T	uc010iug.3	-	5	1169	c.1000G>A	c.(1000-1002)Gtt>Att	p.V334I	CDH9_uc003jgs.1_Splice_Site_p.Q333_splice	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	0	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGAAAAGAAACCTGTTTGACA	0.383													7	183					0	0	1	0	0	T	26903745	C	T	26903745	3	4	132	1	0	0	0	0	1	0	0	0	3117	521	18	2	1397	2	CDH9	5	26903745	Missense_Mutation	SNP	C	TCGA-DJ-A4V2-01A-11D-A257-08		26903745	154011515	4	2224											
CD74	972	broad.mit.edu	37	chr5	149784320	149784321	+	Frame_Shift_Del	DEL	CT	CT	-													ggagccaatggtgcatccagCtctcaaagacctaatacgga							TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr5:149784320_149784321delCT	uc003lsc.3	-	5	734_735	c.547_548delAG	c.(547-549)agcfs	p.S183fs	CD74_uc003lsd.3_Frame_Shift_Del_p.S183fs|CD74_uc003lse.3_Intron	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	183					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCATCCAGCTCTCAAAGACC	0.559			T	ROS1	NSCLC								2	4	---	---	---	---						-	149784321	CT	-	149784320	7	5	132	1	0	1	0	1	0	0	0	0	3035	797	28	0	358	0	CD74	5	149784320	Frame_Shift_Del	DEL	CT	TCGA-DJ-A4V2-01A-11D-A257-08	122880575	149784320	31130940	5	2225											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	43					0	0	1	0	0	T	140453136	A	T	140453136	3	4	132	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4V2-01A-11D-A257-08		140453136	18685527	6	2226											
CEP164	22897	broad.mit.edu	37	chr11	117280645	117280645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtggctcaaacggtggacGacttcctgttggagaagtgg	15	8	1	1			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr11:117280645G>A	uc001prc.3	+	29	4207	c.4060G>A	c.(4060-4062)Gac>Aac	p.D1354N	CEP164_uc001prb.3_Missense_Mutation_p.D1349N|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.D779N	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1354					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AACGGTGGACGACTTCCTGTT	0.587													25	61					0	0	1	0	0	A	117280645	G	A	117280645	3	1	132	1	0	0	0	0	1	0	0	0	3249	1058	37	1	4170	1	CEP164	11	117280645	Missense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		117280645	17725871	7	2227											
GJD2	57369	broad.mit.edu	37	chr15	35045227	35045227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaacttcttatcttctcGtttgcccccaccactgcccc	4	18	3	0			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr15:35045227G>A	uc001zis.1	-	1	418	c.418C>T	c.(418-420)Cga>Tga	p.R140*	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	140					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTATCTTCTCGTTTGCCCCCA	0.532													40	132					0	0	1	0	0	A	35045227	G	A	35045227	4	1	132	1	0	0	0	0	0	1	0	0	6417	1153	40	1	551	1	GJD2	15	35045227	Nonsense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		35045227	67486165	8	2228											
CPD	1362	broad.mit.edu	37	chr17	28706683	28706683	+	Frame_Shift_Del	DEL	C	C	-													accagtttagcaccggcgaaCcccccgccctggacgaggtg							TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr17:28706683delC	uc002hfb.2	+	0	742	c.685delC	c.(685-687)cccfs	p.P229fs	CPD_uc010wbo.2_5'Flank|CPD_uc010wbp.2_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	229	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CACCGGCGAACCCCCCGCCCT	0.701													3	5	---	---	---	---						-	28706683	C	-	28706683	7	5	132	1	0	1	0	1	0	0	0	0	3798	507	18	0	687	0	CPD	17	28706683	Frame_Shift_Del	DEL	C	TCGA-DJ-A4V2-01A-11D-A257-08		28706683	52488527	9	2229											
GPR179	440435	broad.mit.edu	37	chr17	36486995	36486995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgtcaggttgtgggcGctggctgacctgaagcccag	14	14	1	2			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr17:36486995G>A	uc002hpz.3	-	10	2478	c.2457C>T	c.(2455-2457)agC>agT	p.S819S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	819						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTTGTGGGCGCTGGCTGACC	0.652													5	5					0	0	1	0	0	A	36486995	G	A	36486995	2	1	132	1	0	0	0	0	0	0	0	1	6674	1078	38	1		1	GPR179	17	36486995	Silent	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08	7780312	36486995	44708215	10	2230											
CLTCL1	8218	broad.mit.edu	37	chr22	19222058	19222058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagacgctgcaactttggCggcttcagcatagctgccct	11	13	1	1			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr22:19222058C>T	uc021wle.1	-	6	1216	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	CLTCL1_uc021wld.1_Missense_Mutation_p.A381T|CLTCL1_uc021wlc.1_Missense_Mutation_p.A381T|CLTCL1_uc021wlf.1_Missense_Mutation_p.A381T|CLTCL1_uc011agw.1_Missense_Mutation_p.A381T	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	381	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCAACTTTGGCGGCTTCAGCA	0.453			T	?	ALCL								3	31					0	0	1	0	0	T	19222058	C	T	19222058	3	4	132	1	0	0	0	0	1	0	0	0	3567	768	27	1	3885	1	CLTCL1	22	19222058	Missense_Mutation	SNP	C	TCGA-DJ-A4V2-01A-11D-A257-08		19222058	32082508	11	2231											
CRB1	23418	broad.mit.edu	37	chr1	197391022	197391022	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaagcagaggacgctgcatCaacttgtggctgagttacca	11	10	1	2			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr1:197391022C>G	uc001gtz.3	+	5	2273	c.2064C>G	c.(2062-2064)atC>atG	p.I688M	CRB1_uc010poz.2_Missense_Mutation_p.I619M|CRB1_uc009wza.3_Missense_Mutation_p.I576M|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.I688M|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.I169M|CRB1_uc001gub.1_Missense_Mutation_p.I337M	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	688	EGF-like 12.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GACGCTGCATCAACTTGTGGC	0.512													9	60					0	0	1	0	0	G	197391022	C	G	197391022	3	3	133	1	0	0	0	0	1	0	0	0	3848	816	29	4	2086	4	CRB1	1	197391022	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		197391022	51859599	1	2232											
AFTPH	54812	broad.mit.edu	37	chr2	64779995	64779995	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagtgatgccacttttgaaGagtcttcagagcactttcca	9	9	2	5			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64779995G>A	uc002sdc.3	+	0	1419	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	AFTPH_uc002scz.3_Missense_Mutation_p.E463K|AFTPH_uc002sda.3_Missense_Mutation_p.E463K|AFTPH_uc002sdb.3_Missense_Mutation_p.E463K	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	463					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CACTTTTGAAGAGTCTTCAGA	0.408													15	114					0	0	1	0	0	A	64779995	G	A	64779995	3	1	133	1	0	0	0	0	1	0	0	0	364	943	33	2	1389	2	AFTPH	2	64779995	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		64779995	178419378	2	2233			1	8		2	2	31	G		2.035076e-05
AFTPH	54812	broad.mit.edu	37	chr2	64780025	64780025	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcactttccacattttagtGaaccaggtgatgactttgga	9	8	0	3			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64780025G>T	uc002sdc.3	+	0	1449	c.1417G>T	c.(1417-1419)Gaa>Taa	p.E473*	AFTPH_uc002scz.3_Nonsense_Mutation_p.E473*|AFTPH_uc002sda.3_Nonsense_Mutation_p.E473*|AFTPH_uc002sdb.3_Nonsense_Mutation_p.E473*	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	473					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACATTTTAGTGAACCAGGTGA	0.403													7	119					0	0	1	0	0	T	64780025	G	T	64780025	4	4	133	1	0	0	0	0	0	1	0	0	364	1291	45	4	1419	4	AFTPH	2	64780025	Nonsense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	30	64780025	178419348	3	2234			1	8		2	2	31	G		2.035076e-05
CUL3	8452	broad.mit.edu	37	chr2	225362566	225362566	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtttggctaagtagaaCcttcagtaaatcaaaccagg	9	8	2	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:225362566C>A	uc010fwy.1	-	12	1682	c.1629_splice	c.e12-1	p.R543_splice	CUL3_uc010zls.1_Splice_Site_p.R471_splice|CUL3_uc002vny.2_Splice_Site_p.R537_splice	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	537					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAGTAGAACCTTCAGTAAA	0.373													5	48					0	0	1	0	0	A	225362566	C	A	225362566	5	1	133	1	0	0	0	0	0	0	1	0	4056	521	18	4	715	4	CUL3	2	225362566	Splice_Site	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	160582541	225362566	17836807	4	2235											
PPP1R7	5510	broad.mit.edu	37	chr2	242109234	242109234	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacattgcatcaaatagaatCaaaaagattgaaaatatcag	6	5	3	3			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:242109234C>G	uc002wat.1	+	8	867	c.858C>G	c.(856-858)atC>atG	p.I286M	PPP1R7_uc010fzm.1_Missense_Mutation_p.I270M|PPP1R7_uc002wau.1_Missense_Mutation_p.I243M	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	286						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CAAATAGAATCAAAAAGATTG	0.378													5	43					0	0	1	0	0	G	242109234	C	G	242109234	3	3	133	1	0	0	0	0	1	0	0	0	12376	816	29	4	892	4	PPP1R7	2	242109234	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	16746668	242109234	1090139	5	2236											
MTMR12	54545	broad.mit.edu	37	chr5	32274215	32274215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtactgtgctggcttcacaAagcagctgttcacctggtag	11	10	2	0			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:32274215A>G	uc003jhq.3	-	2	326	c.156T>C	c.(154-156)ctT>ctC	p.L52L	MTMR12_uc010iuk.3_Silent_p.L52L|MTMR12_uc010iul.3_Silent_p.L52L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	52						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGCTTCACAAAGCAGCTGTT	0.468													27	62					0	0	1	0	0	G	32274215	A	G	32274215	2	3	133	1	0	0	0	0	0	0	0	1	9941	1	1	3		3	MTMR12	5	32274215	Silent	SNP	A	TCGA-DJ-A4V4-01A-11D-A257-08		32274215	148641045	6	2237											
MAP1B	4131	broad.mit.edu	37	chr5	71490881	71490881	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtcaaaagaagaaacccctGaggtcacaaaagtgaatcac	8	9	3	4			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:71490881G>A	uc003kbw.4	+	4	1940	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	MAP1B_uc010iyw.1_Missense_Mutation_p.E584K|MAP1B_uc010iyx.1_Missense_Mutation_p.E441K|MAP1B_uc010iyy.1_Missense_Mutation_p.E441K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	567						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAACCCCTGAGGTCACAAA	0.443													3	29					0	0	1	0	0	A	71490881	G	A	71490881	3	1	133	1	0	0	0	0	1	0	0	0	9228	1291	45	2	1717	2	MAP1B	5	71490881	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	39216666	71490881	109424379	7	2238											
SPINK5	11005	broad.mit.edu	37	chr5	147480098	147480098	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acgatcctatccagggcccaGatgggaaagtgcatggcaac	12	11	0	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:147480098G>C	uc003loy.2	+	12	1247	c.1174G>C	c.(1174-1176)Gat>Cat	p.D392H	SPINK5_uc010jgs.1_Missense_Mutation_p.D364H|SPINK5_uc010jgr.2_Missense_Mutation_p.D373H|SPINK5_uc003low.2_Missense_Mutation_p.D392H|SPINK5_uc003lox.2_Missense_Mutation_p.D392H	NM_001127698	NP_001121170	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 1, mRNA.	392	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGCCCAGATGGGAAAGT	0.483													7	52					0	0	1	0	0	C	147480098	G	C	147480098	3	2	133	1	0	0	0	0	1	0	0	0	15061	942	33	4	1224	4	SPINK5	5	147480098	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	75989217	147480098	33435162	8	2239											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				17	50					0	0	1	0	0	T	140453136	A	T	140453136	3	4	133	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4V4-01A-11D-A257-08		140453136	18685527	9	2240											
PTPRN2	5799	broad.mit.edu	37	chr7	157874039	157874039	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgttttggacattggcgctCactttgaaggtcactgctgg	12	9	2	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:157874039C>T	uc011kwa.2	-	10	1913	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	PTPRN2_uc003wno.3_Silent_p.V558V|PTPRN2_uc003wnp.3_Silent_p.V541V|PTPRN2_uc003wnq.3_Silent_p.V529V|PTPRN2_uc003wnr.3_Silent_p.V520V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	558						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATTGGCGCTCACTTTGAAGG	0.498													4	54					0	0	1	0	0	T	157874039	C	T	157874039	2	4	133	1	0	0	0	0	0	0	0	1	12808	813	29	2		2	PTPRN2	7	157874039	Silent	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	17420903	157874039	1264624	10	2241											
RABGAP1	23637	broad.mit.edu	37	chr9	125832650	125832650	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttattctgtgtatgatgaaGagattggttattgccagggc	12	5	1	3			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:125832650G>A	uc011lzh.2	+	14	2064	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_5'UTR	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	644	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTATGATGAAGAGATTGGTTA	0.438													5	101					0	0	1	0	0	A	125832650	G	A	125832650	3	1	133	1	0	0	0	0	1	0	0	0	12964	943	33	2	1984	2	RABGAP1	9	125832650	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		125832650	15380781	11	2242											
RAPGEF1	2889	broad.mit.edu	37	chr9	134518626	134518626	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacttcagagccactcacCtgtgctgaattcgaggatcg	10	11	2	3			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:134518626C>T	uc022bos.1	-	4	656	c.497_splice	c.e4+1	p.S166_splice	RAPGEF1_uc022bot.1_Splice_Site_p.S148_splice|RAPGEF1_uc022bou.1_Splice_Site_p.S153_splice|RAPGEF1_uc022bov.1_Splice_Site_p.S153_splice	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	148					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGCCACTCACCTGTGCTGAAT	0.507													5	9					0	0	1	0	0	T	134518626	C	T	134518626	5	4	133	1	0	0	0	0	0	0	1	0	13043	695	24	2	2874	2	RAPGEF1	9	134518626	Splice_Site	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	8685976	134518626	6694805	12	2243											
CYP17A1	1586	broad.mit.edu	37	chr10	104596873	104596873	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaataagcacctccttGgccagctggtggtggccgac	11	12	1	0			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr10:104596873G>T	uc001kwg.3	-	0	418	c.246C>A	c.(244-246)gcC>gcA	p.A82A		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	82					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GCACCTCCTTGGCCAGCTGGT	0.532													23	59					0	0	1	0	0	T	104596873	G	T	104596873	2	4	133	1	0	0	0	0	0	0	0	1	4147	1335	47	4		4	CYP17A1	10	104596873	Silent	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		104596873	30937874	13	2244											
DSCAML1	57453	broad.mit.edu	37	chr11	117314617	117314617	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcacccttgccagcaggctCgatggtcaccttctcgctgc	9	17	3	0			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr11:117314617C>A	uc001prh.1	-	20	4029	c.4027G>T	c.(4027-4029)Gag>Tag	p.E1343*		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1283	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAGCAGGCTCGATGGTCACC	0.617													6	35					0	0	1	0	0	A	117314617	C	A	117314617	4	1	133	1	0	0	0	0	0	1	0	0	4769	893	31	4	2366	4	DSCAML1	11	117314617	Nonsense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		117314617	17691899	14	2245											
HELB	92797	broad.mit.edu	37	chr12	66703764	66703764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatgagaagtcctgtgtcttCccttatgacctttaccatgc	7	11	1	2			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:66703764C>A	uc001sti.2	+	3	1084	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	352					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CCTGTGTCTTCCCTTATGACC	0.413													21	219					0	0	1	0	0	A	66703764	C	A	66703764	3	1	133	1	0	0	0	0	1	0	0	0	7045	854	30	4	1070	4	HELB	12	66703764	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		66703764	67148131	15	2246											
PLXNC1	10154	broad.mit.edu	37	chr12	94580161	94580161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttttaggtgaggagaattCgtgttgcaaactgcaataaa	10	6	0	2			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:94580161C>T	uc001tdc.3	+	3	1600	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	451	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAGGAGAATTCGTGTTGCAAA	0.423													4	40					0	0	1	0	0	T	94580161	C	T	94580161	3	4	133	1	0	0	0	0	1	0	0	0	12126	884	31	1	1365	1	PLXNC1	12	94580161	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	27876397	94580161	39271734	16	2247											
TP53BP1	7158	broad.mit.edu	37	chr15	43738724	43738724	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaagtatgggatcatgggtCtccaccatgctttcagacat	9	11	3	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr15:43738724C>T	uc001zrr.4	-	13	3014	c.2901G>A	c.(2899-2901)gaG>gaA	p.E967E	TP53BP1_uc010udp.2_Silent_p.E962E|TP53BP1_uc001zrq.4_Silent_p.E967E|TP53BP1_uc001zrs.3_Silent_p.E962E|TP53BP1_uc010udq.1_Silent_p.E967E	NM_001141980	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA.	962					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GATCATGGGTCTCCACCATGC	0.453								Other conserved DNA damage response genes					7	86					0	0	1	0	0	T	43738724	C	T	43738724	2	4	133	1	0	0	0	0	0	0	0	1	16380	912	32	2		2	TP53BP1	15	43738724	Silent	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		43738724	58792668	17	2248											
ABAT	18	broad.mit.edu	37	chr16	8875180	8875180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggtgtggtgttgggtGgctgtggtgacaaatccatt	15	5	1	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr16:8875180G>A	uc002czc.4	+	15	1562	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	ABAT_uc002czd.4_Missense_Mutation_p.G466S|ABAT_uc010buh.3_Missense_Mutation_p.G408S|ABAT_uc010bui.3_Missense_Mutation_p.G466S|ABAT_uc021tcs.1_5'Flank	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	466					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTGTTGGGTGGCTGTGGTGA	0.527													6	84					0	0	1	0	0	A	8875180	G	A	8875180	3	1	133	1	0	0	0	0	1	0	0	0	27	1348	47	2	1454	2	ABAT	16	8875180	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		8875180	81479573	18	2249											
ABR	29	broad.mit.edu	37	chr17	914042	914042	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agttcccggaagtacagcttGagcgtcccggcgatggcgtt	14	11	0	1			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:914042G>C	uc002fsd.3	-	19	2273	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L	ABR_uc002fse.3_Silent_p.L675L|ABR_uc010vqf.2_Silent_p.L172L|ABR_uc010vqg.2_Silent_p.L503L|ABR_uc002fsg.3_Silent_p.L684L|ABR_uc002fsh.1_Silent_p.L329L|ABR_uc002fsf.3_Silent_p.L258L	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	721	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		AGTACAGCTTGAGCGTCCCGG	0.627													9	87					0	0	1	0	0	C	914042	G	C	914042	2	2	133	1	0	0	0	0	0	0	0	1	99	1277	45	4		4	ABR	17	914042	Silent	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		914042	80281168	19	2250											
SLC35B1	10237	broad.mit.edu	37	chr17	47783622	47783622	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctggagaccatggcacccaGataggagatagaacaggcag	14	9	0	4			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:47783622G>C	uc002iph.1	-	2	370	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.L95V	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	95						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						ATGGCACCCAGATAGGAGATA	0.473													6	23					0	0	1	0	0	C	47783622	G	C	47783622	3	2	133	1	0	0	0	0	1	0	0	0	14575	933	33	4	713	4	SLC35B1	17	47783622	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	46869580	47783622	33411588	20	2251											
ASPDH	554235	broad.mit.edu	37	chr19	51015780	51015780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggctgtgggctgcagCcaggggtccctcaagccgga	16	14	1	0			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr19:51015780C>T	uc010enz.3	-	4	552	c.490G>A	c.(490-492)Gct>Act	p.A164T	JOSD2_uc002psn.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.4_Missense_Mutation_p.A59T	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN	Homo sapiens aspartate dehydrogenase domain containing (ASPDH), transcript variant 1, mRNA.	164					NAD biosynthetic process|NADP catabolic process		NADP binding|aspartate dehydrogenase activity			endometrium(1)|large_intestine(1)|lung(1)	3						TGGGCTGCAGCCAGGGGTCCC	0.657													3	12					0	0	1	0	0	T	51015780	C	T	51015780	3	4	133	1	0	0	0	0	1	0	0	0	1051	739	26	2	373	2	ASPDH	19	51015780	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		51015780	8113203	21	2252											
AJAP1	55966	broad.mit.edu	37	chr1	4832438	4832438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggacttcccctcggcccGggtgcccagcagcctggaca	12	18	0	0			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr1:4832438G>A	uc001alm.1	+	3	1397	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	AJAP1_uc001aln.3_Missense_Mutation_p.R339Q	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	339	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCTCGGCCCGGGTGCCCAGC	0.617													4	43					0	0	1	0	0	A	4832438	G	A	4832438	3	1	134	1	0	0	0	0	1	0	0	0	438	1116	39	1	1030	1	AJAP1	1	4832438	Missense_Mutation	SNP	G	TCGA-DJ-A4V5-01A-11D-A257-08		4832438	244418183	1	2253											
WDR11	55717	broad.mit.edu	37	chr10	122612090	122612090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgtggtagtgattgaTtccattactgcccaaactct	7	10	2	2			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr10:122612090T>G	uc021pzt.1	+	1	387	c.141T>G	c.(139-141)gaT>gaG	p.D47E	LOC283089_uc001lfb.1_5'Flank|WDR11_uc010qte.2_Missense_Mutation_p.D47E|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	47						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TAGTGATTGATTCCATTACTG	0.368													15	22					0	0	1	0	0	G	122612090	T	G	122612090	3	3	134	1	0	0	0	0	1	0	0	0	17270	1490	52	5	147	5	WDR11	10	122612090	Missense_Mutation	SNP	T	TCGA-DJ-A4V5-01A-11D-A257-08		122612090	12922657	2	2254											
POU2F3	25833	broad.mit.edu	37	chr11	120169033	120169033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcccatcggccatgccaCctgagtcaaggacctgccat	8	17	2	1			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr11:120169033C>T	uc010rzk.2	+	3	342	c.7C>T	c.(7-9)Cct>Tct	p.P3S	POU2F3_uc021qrk.1_Silent_p.H66H|POU2F3_uc001pxc.3_Silent_p.H64H|POU2F3_uc010rzl.2_5'UTR			Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 1, mRNA.	0					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGCCATGCCACCTGAGTCAAG	0.537													61	151					0	0	1	0	0	T	120169033	C	T	120169033	3	4	134	1	0	0	0	0	1	0	0	0	12273	506	18	2	206	2	POU2F3	11	120169033	Missense_Mutation	SNP	C	TCGA-DJ-A4V5-01A-11D-A257-08		120169033	14837483	3	2255											
DPP8	54878	broad.mit.edu	37	chr15	65743407	65743407	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtatgtgcaaaatggacaTtctcatccaggaaaccatgt	9	8	1	0			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr15:65743407T>G	uc002aov.3	-	18	4082	c.2504A>C	c.(2503-2505)aAt>aCt	p.N835T	DPP8_uc002aow.3_Missense_Mutation_p.N835T|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Missense_Mutation_p.N819T|DPP8_uc002aox.3_Missense_Mutation_p.N819T|DPP8_uc002aoy.3_Missense_Mutation_p.N784T|DPP8_uc002aoz.3_Missense_Mutation_p.N719T|DPP8_uc010bhj.3_Missense_Mutation_p.N835T|DPP8_uc010bhi.3_Missense_Mutation_p.N138T	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	835					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAATGGACATTCTCATCCAG	0.358													37	78					0	0	1	0	0	G	65743407	T	G	65743407	3	3	134	1	0	0	0	0	1	0	0	0	4732	1493	52	5	200	5	DPP8	15	65743407	Missense_Mutation	SNP	T	TCGA-DJ-A4V5-01A-11D-A257-08		65743407	36787985	4	2256											
GNAO1	2775	broad.mit.edu	37	chr16	56309933	56309933	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccagtccctggcagccatCgtccgggccatggacacttt	10	15	0	0			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr16:56309933C>T	uc002eit.4	+	2	1149	c.252C>T	c.(250-252)atC>atT	p.I84I	GNAO1_uc002eiu.4_Silent_p.I84I	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	84					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGGCAGCCATCGTCCGGGCCA	0.502													12	44					0	0	1	0	0	T	56309933	C	T	56309933	2	4	134	1	0	0	0	0	0	0	0	1	6508	874	31	1		1	GNAO1	16	56309933	Silent	SNP	C	TCGA-DJ-A4V5-01A-11D-A257-08		56309933	34044820	5	2257											
TBXA2R	6915	broad.mit.edu	37	chr19	3600480	3600480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaacccccctgccgcgcGcccgccagcacgctcagggc	12	21	1	0			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr19:3600480G>A	uc021umv.1	-	1	540	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TBXA2R_uc002lyg.2_Silent_p.G51G	NM_201636	NP_963998	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant b, mRNA.	51					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCTGCCGCGCGCCCGCCAGCA	0.706													7	19					0	0	1	0	0	A	3600480	G	A	3600480	2	1	134	1	0	0	0	0	0	0	0	1	15660	1074	38	1		1	TBXA2R	19	3600480	Silent	SNP	G	TCGA-DJ-A4V5-01A-11D-A257-08		3600480	55528503	6	2258											
PADI2	11240	broad.mit.edu	37	chr1	17411155	17411155	+	Frame_Shift_Del	DEL	G	G	-													catgatccacggagcaatccGgaatatcacggtgtccgtga					rs149752241	by1000genomes	TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr1:17411155delG	uc001baf.3	-	7	959	c.877delC	c.(877-879)cggfs	p.R293fs	PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Frame_Shift_Del_p.R293fs	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	293					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGAGCAATCCGGAATATCACG	0.577													2	4	---	---	---	---						-	17411155	G	-	17411155	7	5	135	1	0	1	0	1	0	0	0	0	11378	1115	39	0	1156	0	PADI2	1	17411155	Frame_Shift_Del	DEL	G	TCGA-DO-A1JZ-01A-11D-A13W-08		17411155	231839466	1	2259											
COMMD1	150684	broad.mit.edu	37	chr2	62132935	62132935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctacggagccagctatatcCagaggtgccacccgaggagt	13	12	0	1			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:62132935C>A	uc002sbp.3	+	0	133	c.122C>A	c.(121-123)cCa>cAa	p.P41Q		NM_152516	NP_689729	Q8N668	COMD1_HUMAN	Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA.	41					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			CAGCTATATCCAGAGGTGCCA	0.597													3	49					0	0	1	0	0	A	62132935	C	A	62132935	3	1	135	1	0	0	0	0	1	0	0	0	3714	594	21	4	124	4	COMMD1	2	62132935	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08		62132935	181066438	2	2260											
POLR1A	25885	broad.mit.edu	37	chr2	86297188	86297188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggccaggacgtaggcctCggcccggcccagctcactct	13	17	2	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:86297188C>T	uc002sqs.3	-	12	2198	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	607					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACGTAGGCCTCGGCCCGGCCC	0.572													19	15					0	0	1	0	0	T	86297188	C	T	86297188	3	4	135	1	0	0	0	0	1	0	0	0	12209	893	31	1	3431	1	POLR1A	2	86297188	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08	24164253	86297188	156902185	3	2261											
NEIL3	55247	broad.mit.edu	37	chr4	178283471	178283471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtccttcccattctgcaAccatggcaagcgttccacca	6	15	1	0			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr4:178283471A>G	uc003iut.2	+	9	1781	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	555					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATTCTGCAACCATGGCAAG	0.388								Base excision repair (BER), DNA glycosylases					15	73					0	0	1	0	0	G	178283471	A	G	178283471	3	3	135	1	0	0	0	0	1	0	0	0	10320	43	2	3	1702	3	NEIL3	4	178283471	Missense_Mutation	SNP	A	TCGA-DO-A1JZ-01A-11D-A13W-08		178283471	12870805	4	2262											
TP53BP1	7158	broad.mit.edu	37	chr15	43738684	43738684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccacgtctggggcagcccCagaatccccttttccactcc	7	18	1	1			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr15:43738684C>A	uc001zrr.4	-	13	3054	c.2941G>T	c.(2941-2943)Ggg>Tgg	p.G981W	TP53BP1_uc010udp.2_Missense_Mutation_p.G976W|TP53BP1_uc001zrq.4_Missense_Mutation_p.G981W|TP53BP1_uc001zrs.3_Missense_Mutation_p.G976W|TP53BP1_uc010udq.1_Missense_Mutation_p.G981W	NM_001141980	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA.	976					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGCAGCCCCAGAATCCCCT	0.473								Other conserved DNA damage response genes					84	87					0	0	1	0	0	A	43738684	C	A	43738684	3	1	135	1	0	0	0	0	1	0	0	0	16380	594	21	4	3052	4	TP53BP1	15	43738684	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08		43738684	58792708	5	2263											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31981850	31981850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgcacctgatagagcatGtgacaaggagaatcacatct	9	9	2	4			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr20:31981850G>A	uc010gek.3	-	3	555	c.431C>T	c.(430-432)aCa>aTa	p.T144I	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.T54I|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.T144I|CDK5RAP1_uc002wza.3_Missense_Mutation_p.T144I|CDK5RAP1_uc010gel.3_Missense_Mutation_p.T54I|CDK5RAP1_uc010gem.3_Missense_Mutation_p.T144I|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.T144I|CDK5RAP1_uc010gen.3_Missense_Mutation_p.T144I	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	144	CDK5 activation inhibition.|MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GATAGAGCATGTGACAAGGAG	0.403													5	87					0	0	1	0	0	A	31981850	G	A	31981850	3	1	135	1	0	0	0	0	1	0	0	0	3145	1377	48	2	1376	2	CDK5RAP1	20	31981850	Missense_Mutation	SNP	G	TCGA-DO-A1JZ-01A-11D-A13W-08		31981850	31043670	6	2264											
OR2T33	391195	broad.mit.edu	37	chr1	248437065	248437065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacttggtgggctctggtgtGgttaaagagtcctaggagaa	16	5	1	2			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr1:248437065G>T	uc010pzi.2	-	0	52	c.52C>A	c.(52-54)Cac>Aac	p.H18N		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTCTGGTGTGGTTAAAGAGT	0.448													14	100					0	0	1	0	0	T	248437065	G	T	248437065	3	4	136	1	0	0	0	0	1	0	0	0	11024	1348	47	4	913	4	OR2T33	1	248437065	Missense_Mutation	SNP	G	TCGA-DO-A1K0-01A-11D-A13W-08		248437065	813556	1	2265											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				41	44					0	0	1	0	0	T	140453136	A	T	140453136	3	4	136	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DO-A1K0-01A-11D-A13W-08		140453136	18685527	2	2266											
FAM78A	286336	broad.mit.edu	37	chr9	134136508	134136508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgaagctctggtcccGgtagatattggtgagcttgg	17	6	1	3			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr9:134136508G>A	uc004cak.3	-	1	893	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	FAM78A_uc004caj.3_Missense_Mutation_p.R182W	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	Homo sapiens family with sequence similarity 78, member A (FAM78A), mRNA.	185								p.R185W(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CTCTGGTCCCGGTAGATATTG	0.572													39	46					0	0	1	0	0	A	134136508	G	A	134136508	3	1	136	1	0	0	0	0	1	0	0	0	5626	1115	39	1	302	1	FAM78A	9	134136508	Missense_Mutation	SNP	G	TCGA-DO-A1K0-01A-11D-A13W-08		134136508	7076923	3	2267											
GBF1	8729	broad.mit.edu	37	chr10	104125331	104125332	+	Frame_Shift_Ins	INS	-	-	T													tgtgagtgaccgcaaaaacaINSttgacctgttggagagcttt					rs141624228		TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr10:104125331_104125332insT	uc001kux.2	+	17	2575_2576	c.2281_2282insT	c.(2281-2283)attfs	p.I761fs	GBF1_uc001kuy.2_Frame_Shift_Ins_p.I761fs|GBF1_uc001kuz.2_Frame_Shift_Ins_p.I762fs	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	761	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCGCAAAAACATTGACCTGTTG	0.505													60	64	---	---	---	---						T	104125332	-	T	104125331	7	5	136	1	0	1	1	0	0	0	0	0	6271	217	8	0	2347	0	GBF1	10	104125331	Frame_Shift_Ins	INS	-	TCGA-DO-A1K0-01A-11D-A13W-08		104125331	31409416	4	2268											
ZP1	22917	broad.mit.edu	37	chr11	60636685	60636685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgggtcacctccaggccGcaggagcctgcagtcttctc	11	16	3	0			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr11:60636685G>A	uc001nqd.3	+	1	284	c.264G>A	c.(262-264)ccG>ccA	p.P88P	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	88					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCAGGCCGCAGGAGCCTG	0.582													3	22					0	0	1	0	0	A	60636685	G	A	60636685	2	1	136	1	0	0	0	0	0	0	0	1	18212	1074	38	1		1	ZP1	11	60636685	Silent	SNP	G	TCGA-DO-A1K0-01A-11D-A13W-08		60636685	74369831	5	2269											
ARID2	196528	broad.mit.edu	37	chr12	46125035	46125035	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggggagaaattgttgaAgagttcaactttcccagaag	12	6	1	4			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr12:46125035A>G	uc001ros.1	+	2	222	c.222A>G	c.(220-222)gaA>gaG	p.E74E	ARID2_uc001ror.3_Silent_p.E74E	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	74	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E74*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAATTGTTGAAGAGTTCAACT	0.373			"N, S, F"		hepatocellular carcinoma								4	102					0	0	1	0	0	G	46125035	A	G	46125035	2	3	136	1	0	0	0	0	0	0	0	1	915	69	3	3		3	ARID2	12	46125035	Silent	SNP	A	TCGA-DO-A1K0-01A-11D-A13W-08		46125035	87726860	6	2270											
ZFHX3	463	broad.mit.edu	37	chr16	72831869	72831869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggctctctttaacttaTgcaggtgggagacagaattg	13	6	1	2			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr16:72831869T>C	uc002fck.3	-	8	5385	c.4712A>G	c.(4711-4713)cAt>cGt	p.H1571R	ZFHX3_uc002fcl.3_Missense_Mutation_p.H657R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1571					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTAACTTATGCAGGTGGGA	0.463													48	53					0	0	1	0	0	C	72831869	T	C	72831869	3	2	136	1	0	0	0	0	1	0	0	0	17631	1464	51	3	6407	3	ZFHX3	16	72831869	Missense_Mutation	SNP	T	TCGA-DO-A1K0-01A-11D-A13W-08		72831869	17522884	7	2271											
PRDM15	63977	broad.mit.edu	37	chr21	43243760	43243760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgtacttcttgtcgcCgtgggtgagcaggtgcttgt	16	8	1	1			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr21:43243760C>T	uc002yzq.1	-	20	2884	c.2773G>A	c.(2773-2775)Ggc>Agc	p.G925S	PRDM15_uc002yzo.3_Missense_Mutation_p.G596S|PRDM15_uc002yzp.3_Missense_Mutation_p.G616S|PRDM15_uc002yzr.1_Missense_Mutation_p.G616S	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCTTGTCGCCGTGGGTGAGC	0.607													2	0					0	0	1	0	0	T	43243760	C	T	43243760	3	4	136	1	0	0	0	0	1	0	0	0	12456	652	23	1	1794	1	PRDM15	21	43243760	Missense_Mutation	SNP	C	TCGA-DO-A1K0-01A-11D-A13W-08		43243760	4886135	8	2272											
GRIA3	2892	broad.mit.edu	37	chrX	122616871	122616871	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaaggctacaacgtgtaTggaacagagagtgttaagat	13	4	0	3			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chrX:122616871T>C	uc004etq.4	+	14	2953	c.2661T>C	c.(2659-2661)taT>taC	p.Y887Y	GRIA3_uc004etr.4_Silent_p.Y887Y|GRIA3_uc004ets.4_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	887					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAACGTGTATGGAACAGAGA	0.383													10	120					0	0	1	0	0	C	122616871	T	C	122616871	2	2	136	1	0	0	0	0	0	0	0	1	6769	1471	51	3		3	GRIA3	23	122616871	Silent	SNP	T	TCGA-DO-A1K0-01A-11D-A13W-08		122616871	32653689	9	2273											
UBE4B	10277	broad.mit.edu	37	chr1	10209302	10209302	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgttgcctgagttttaTgtagaagatgttgcagaatt	12	5	0	4			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:10209302T>C	uc021ogc.1	+	20	3493	c.2805T>C	c.(2803-2805)taT>taC	p.Y935Y	UBE4B_uc001aqs.4_Silent_p.Y884Y|UBE4B_uc001aqr.4_Silent_p.Y755Y|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.Y339Y	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	884					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGAGTTTTATGTAGAAGATG	0.274													5	53					0	0	1	0	0	C	10209302	T	C	10209302	2	2	137	1	0	0	0	0	0	0	0	1	16880	1471	51	3		3	UBE4B	1	10209302	Silent	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08		10209302	239041319	1	2274											
TCEB3	6924	broad.mit.edu	37	chr1	24078449	24078449	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaaaaacttggactcagttCagaaattacccaaggtgaac	8	8	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:24078449C>T	uc001bho.3	+	3	1492	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	478					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGACTCAGTTCAGAAATTACC	0.433											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	72					0	0	1	0	0	T	24078449	C	T	24078449	4	4	137	1	0	0	0	0	0	1	0	0	15678	827	29	2	1446	2	TCEB3	1	24078449	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	13869147	24078449	225172172	2	2275											
MACF1	23499	broad.mit.edu	37	chr1	39926406	39926406	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggatttcttccggcgcattGataaggaccaggatgggaag	14	7	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:39926406G>A	uc021olw.1	+	56	16792	c.16792G>A	c.(16792-16794)Gat>Aat	p.D5598N	MACF1_uc021ols.1_Missense_Mutation_p.D5093N|MACF1_uc021olt.1_Missense_Mutation_p.D5096N|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7054					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGGCGCATTGATAAGGACCA	0.428													10	150					0	0	1	0	0	A	39926406	G	A	39926406	3	1	137	1	0	0	0	0	1	0	0	0	9144	1290	45	2	21787	2	MACF1	1	39926406	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	15847957	39926406	209324215	3	2276											
NASP	4678	broad.mit.edu	37	chr1	46080813	46080813	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcttatgggtacaactctCagtatgatgaggcagtggca	13	7	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:46080813C>T	uc001coi.2	+	9	1954	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	NASP_uc021omz.1_Nonsense_Mutation_p.Q601*|NASP_uc001coj.2_Nonsense_Mutation_p.Q260*|NASP_uc010olr.2_Nonsense_Mutation_p.Q535*|NASP_uc001col.2_Nonsense_Mutation_p.Q107*	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	599	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	p.Q601*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GTACAACTCTCAGTATGATGA	0.512													4	85					0	0	1	0	0	T	46080813	C	T	46080813	4	4	137	1	0	0	0	0	0	1	0	0	10172	827	29	2	1910	2	NASP	1	46080813	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	6154407	46080813	203169808	4	2277											
PTPN22	26191	broad.mit.edu	37	chr1	114380398	114380398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttagaactggtaccacttgGaggccatgatgaaaaataag	10	7	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:114380398G>A	uc001eds.3	-	12	1754	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S	PTPN22_uc021orx.1_Missense_Mutation_p.P542S|PTPN22_uc009wgq.3_Missense_Mutation_p.P487S|PTPN22_uc021ory.1_Missense_Mutation_p.P518S|PTPN22_uc010owo.2_Missense_Mutation_p.P298S|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P542S|PTPN22_uc009wgs.2_Missense_Mutation_p.P415S|PTPN22_uc001edu.2_Missense_Mutation_p.P542S	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	542					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACCACTTGGAGGCCATGAT	0.393													5	66					0	0	1	0	0	A	114380398	G	A	114380398	3	1	137	1	0	0	0	0	1	0	0	0	12787	1174	41	2	858	2	PTPN22	1	114380398	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	68299585	114380398	134870223	5	2278											
INSRR	3645	broad.mit.edu	37	chr1	156821796	156821796	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggcacagcgctcagctgtGacacagcgccaggactcata	11	14	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:156821796G>A	uc010pht.2	-	2	1124	c.825C>T	c.(823-825)gtC>gtT	p.V275V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.V275V	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	275					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCAGCTGTGACACAGCGCC	0.657													5	35					0	0	1	0	0	A	156821796	G	A	156821796	2	1	137	1	0	0	0	0	0	0	0	1	7774	1277	45	2		2	INSRR	1	156821796	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	42441398	156821796	92428825	6	2279											
ANGPTL1	9068	broad.mit.edu	37	chr1	178820385	178820385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcctctgtaccatactCcatttaggttagaatgtgca	8	11	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:178820385C>T	uc001gma.3	-	5	1831	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G452E	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	452	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GTACCATACTCCATTTAGGTT	0.438													6	76					0	0	1	0	0	T	178820385	C	T	178820385	3	4	137	1	0	0	0	0	1	0	0	0	613	855	30	2	124	2	ANGPTL1	1	178820385	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	21998589	178820385	70430236	7	2280											
ACTA1	58	broad.mit.edu	37	chr1	229567331	229567331	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctgctggaaggtggacagcGaggccaggatggagccgccg	18	10	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:229567331G>C	uc001htm.3	-	6	1154	c.1049C>G	c.(1048-1050)tCg>tGg	p.S350W		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	350			S -> L (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGTGGACAGCGAGGCCAGGAT	0.627													11	194					0	0	1	0	0	C	229567331	G	C	229567331	3	2	137	1	0	0	0	0	1	0	0	0	191	1059	37	4	88	4	ACTA1	1	229567331	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	50746946	229567331	19683290	8	2281											
FBXO11	80204	broad.mit.edu	37	chr2	48040983	48040983	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctccccagattttgttgcgtCtaattttggggttgcttcca	9	10	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:48040983C>G	uc002rwe.3	-	16	2103	c.2030G>C	c.(2029-2031)aGa>aCa	p.R677T	FBXO11_uc010fbl.3_Missense_Mutation_p.R593T|FBXO11_uc010fbk.3_Missense_Mutation_p.R101T|FBXO11_uc021vhe.1_Missense_Mutation_p.R477T	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	677					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGTTGCGTCTAATTTTGGG	0.348			"Mis, F, D"		DLBCL								6	34					0	0	1	0	0	G	48040983	C	G	48040983	3	3	137	1	0	0	0	0	1	0	0	0	5727	913	32	4	867	4	FBXO11	2	48040983	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		48040983	195158390	9	2282											
ERCC3	2071	broad.mit.edu	37	chr2	128036808	128036808	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgtcagcaaagacaataatCttgtcattcctcctttcatg	5	10	4	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:128036808C>G	uc002toh.1	-	9	1766	c.1671G>C	c.(1669-1671)aaG>aaC	p.K557N	ERCC3_uc002toe.1_Missense_Mutation_p.K312N|ERCC3_uc002tof.1_Missense_Mutation_p.K493N|ERCC3_uc002tog.1_Missense_Mutation_p.K493N	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	557	Helicase C-terminal.				DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AGACAATAATCTTGTCATTCC	0.398			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	29					0	0	1	0	0	G	128036808	C	G	128036808	3	3	137	1	0	0	0	0	1	0	0	0	5214	912	32	4	701	4	ERCC3	2	128036808	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	79995825	128036808	115162565	10	2283											
IRS1	3667	broad.mit.edu	37	chr2	227662792	227662792	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacggcccacctcgatgaaGaagaagttttccgagtggcc	12	11	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:227662792G>A	uc002voh.4	-	0	715	c.663C>T	c.(661-663)ttC>ttT	p.F221F	IRS1_uc021vxn.1_Silent_p.F221F	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	221	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCTCGATGAAGAAGAAGTTTT	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	114					0	0	1	0	0	A	227662792	G	A	227662792	2	1	137	1	0	0	0	0	0	0	0	1	7840	933	33	2		2	IRS1	2	227662792	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	99625984	227662792	15536581	11	2284											
ITPR1	3708	broad.mit.edu	37	chr3	4715019	4715019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaacaagtcacccccGtgaaatatgcccgcctctgg	9	16	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:4715019G>A	uc003bqc.3	+	19	2709	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ITPR1_uc021wsi.1_Missense_Mutation_p.V802M|ITPR1_uc021wsj.1_Missense_Mutation_p.V787M|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	802					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGTCACCCCCGTGAAATATGC	0.562													12	124					0	0	1	0	0	A	4715019	G	A	4715019	3	1	137	1	0	0	0	0	1	0	0	0	7920	1145	40	1	2478	1	ITPR1	3	4715019	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		4715019	193307411	12	2285											
EDEM1	9695	broad.mit.edu	37	chr3	5244672	5244672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatctaaagacaggagttCctcctgacaccaataatgag	8	9	1	4			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:5244672C>T	uc003bqi.3	+	4	1012	c.880C>T	c.(880-882)Cct>Tct	p.P294S	EDEM1_uc011asz.1_Missense_Mutation_p.P72S|EDEM1_uc021wsl.1_Missense_Mutation_p.P99S	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	294					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GACAGGAGTTCCTCCTGACAC	0.512													7	76					0	0	1	0	0	T	5244672	C	T	5244672	3	4	137	1	0	0	0	0	1	0	0	0	4911	855	30	2	898	2	EDEM1	3	5244672	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	529653	5244672	192777758	13	2286											
NPRL2	10641	broad.mit.edu	37	chr3	50386439	50386439	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagtggatggtgttggactCatctgcagggggccccatcc	14	11	2	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:50386439C>T	uc003daj.1	-	4	854	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	151					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTTGGACTCATCTGCAGGG	0.557													9	101					0	0	1	0	0	T	50386439	C	T	50386439	3	4	137	1	0	0	0	0	1	0	0	0	10597	835	29	2	719	2	NPRL2	3	50386439	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	45141767	50386439	147635991	14	2287											
ALAS1	211	broad.mit.edu	37	chr3	52238848	52238848	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgactattcagactccctCatcaccaaaaagcaagtgtc	6	12	3	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:52238848C>T	uc011bec.2	+	5	1088	c.768C>T	c.(766-768)ctC>ctT	p.L256L	ALAS1_uc003dcy.2_Silent_p.L239L|ALAS1_uc003dcz.2_Silent_p.L239L	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	239					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGACTCCCTCATCACCAAAA	0.473													7	91					0	0	1	0	0	T	52238848	C	T	52238848	2	4	137	1	0	0	0	0	0	0	0	1	484	813	29	2		2	ALAS1	3	52238848	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1852409	52238848	145783582	15	2288											
PARP14	54625	broad.mit.edu	37	chr3	122437591	122437591	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaatcccgggcagattgtatCagtgagtttatagaatggca	12	6	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:122437591C>G	uc003efq.4	+	13	4652	c.4593C>G	c.(4591-4593)atC>atG	p.I1531M	PARP14_uc021xdc.1_Missense_Mutation_p.I1395M|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.I1248M|PARP14_uc003efs.1_Missense_Mutation_p.I1248M	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1531	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGATTGTATCAGTGAGTTTA	0.388													6	159					0	0	1	0	0	G	122437591	C	G	122437591	3	3	137	1	0	0	0	0	1	0	0	0	11458	816	29	4	4647	4	PARP14	3	122437591	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	70198743	122437591	75584839	16	2289											
AADACL2	344752	broad.mit.edu	37	chr3	151475099	151475099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttggaggacttagttattCattgccaggacttacagaca	9	8	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:151475099C>T	uc003ezc.3	+	4	1043	c.923C>T	c.(922-924)tCa>tTa	p.S308L	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.S95L	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	308						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAGTTATTCATTGCCAGGA	0.363													8	105					0	0	1	0	0	T	151475099	C	T	151475099	3	4	137	1	0	0	0	0	1	0	0	0	11	838	29	2	941	2	AADACL2	3	151475099	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	29037508	151475099	46547331	17	2290											
CD38	952	broad.mit.edu	37	chr4	15780234	15780234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccgagaccgtcctggcgcGatgcgtcaagtacactgaaa	11	13	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:15780234G>A	uc003gol.1	+	0	304	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	66					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GTCCTGGCGCGATGCGTCAAG	0.672													11	62					0	0	1	0	0	A	15780234	G	A	15780234	3	1	137	1	0	0	0	0	1	0	0	0	3009	1058	37	1	199	1	CD38	4	15780234	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		15780234	175374042	18	2291											
MUC7	4589	broad.mit.edu	37	chr4	71346814	71346814	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccatctgtgactttcccatCagcttccaccaaaattacta	3	14	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:71346814C>G	uc011cat.2	+	3	641	c.353C>G	c.(352-354)tCa>tGa	p.S118*	MUC7_uc011cau.2_Nonsense_Mutation_p.S118*|MUC7_uc003hfj.3_Nonsense_Mutation_p.S118*	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	118	Thr-rich.					extracellular region	protein binding	p.P117Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACTTTCCCATCAGCTTCCACC	0.428													5	69					0	0	1	0	0	G	71346814	C	G	71346814	4	3	137	1	0	0	0	0	0	1	0	0	9981	838	29	4	359	4	MUC7	4	71346814	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	55566580	71346814	119807462	19	2292											
PRDM8	56978	broad.mit.edu	37	chr4	81122505	81122505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggctgcggttggtccaatCggccagagataaggaagagc	16	8	0	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:81122505C>T	uc010ijo.3	+	6	1120	c.281C>T	c.(280-282)tCg>tTg	p.S94L	PRDM8_uc003hmb.4_Missense_Mutation_p.S94L|PRDM8_uc003hmc.4_Missense_Mutation_p.S94L	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	94	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TTGGTCCAATCGGCCAGAGAT	0.483													8	33					0	0	1	0	0	T	81122505	C	T	81122505	3	4	137	1	0	0	0	0	1	0	0	0	12462	893	31	1	287	1	PRDM8	4	81122505	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	9775691	81122505	110031771	20	2293											
NNT	23530	broad.mit.edu	37	chr5	43616136	43616136	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcacaattgctcagggatatGatgcgctaagctccatggcc	10	11	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:43616136G>A	uc003joe.3	+	3	823	c.568G>A	c.(568-570)Gat>Aat	p.D190N	NNT_uc003jof.3_Missense_Mutation_p.D190N	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	190					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TCAGGGATATGATGCGCTAAG	0.443													9	83					0	0	1	0	0	A	43616136	G	A	43616136	3	1	137	1	0	0	0	0	1	0	0	0	10510	1290	45	2	578	2	NNT	5	43616136	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		43616136	137299124	21	2294											
PCDHB9	56127	broad.mit.edu	37	chr5	140567496	140567496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttggacaaagcactggatCgggaggagcaggaagagctc	16	7	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:140567496C>T	uc003liw.1	+	0	604	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	202	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACTGGATCGGGAGGAGCA	0.483													22	168					0	0	1	0	0	T	140567496	C	T	140567496	3	4	137	1	0	0	0	0	1	0	0	0	11549	875	31	1	606	1	PCDHB9	5	140567496	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	96951360	140567496	40347764	22	2295											
BNIP1	662	broad.mit.edu	37	chr5	172573902	172573902	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttcaggacccttaagtgctCttactgaactgaatactaaa	7	9	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:172573902C>G	uc003mci.4	+	1	222	c.118C>G	c.(118-120)Ctt>Gtt	p.L40V	BNIP1_uc003mcj.4_Missense_Mutation_p.L40V|BNIP1_uc003mck.4_Missense_Mutation_p.L40V|BNIP1_uc003mcl.4_Missense_Mutation_p.L40V|BNIP1_uc021yhw.1_5'UTR	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	40					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTAAGTGCTCTTACTGAACT	0.408													6	46					0	0	1	0	0	G	172573902	C	G	172573902	3	3	137	1	0	0	0	0	1	0	0	0	1476	913	32	4	124	4	BNIP1	5	172573902	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	32006406	172573902	8341358	23	2296											
CPEB4	80315	broad.mit.edu	37	chr5	173337561	173337561	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcgacatgcactcactggaGagttcactcattgacataat	7	10	3	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:173337561G>A	uc003mcs.4	+	1	2567	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	CPEB4_uc010jju.2_Silent_p.E387E|CPEB4_uc010jjv.3_Silent_p.E387E|CPEB4_uc011dfg.2_Silent_p.E387E|CPEB4_uc003mcu.4_Silent_p.E5E	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	387							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTCACTGGAGAGTTCACTCA	0.343													9	115					0	0	1	0	0	A	173337561	G	A	173337561	2	1	137	1	0	0	0	0	0	0	0	1	3803	933	33	2		2	CPEB4	5	173337561	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	763659	173337561	7577699	24	2297											
FLT4	2324	broad.mit.edu	37	chr5	180048729	180048729	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggcgaacagatgcacgttCttgcagtcgagcagaagcgg	15	9	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:180048729C>T	uc003mlz.4	-	12	1912	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	FLT4_uc003mma.4_Silent_p.K611K|FLT4_uc003mmb.1_Silent_p.K144K|FLT4_uc011dgy.2_Silent_p.K611K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	611	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GATGCACGTTCTTGCAGTCGA	0.672													5	62					0	0	1	0	0	T	180048729	C	T	180048729	2	4	137	1	0	0	0	0	0	0	0	1	5944	912	32	2		2	FLT4	5	180048729	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	6711168	180048729	866531	25	2298											
TNF	7124	broad.mit.edu	37	chr6	31543617	31543617	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaggcggtgcttgttcctCagcctcttctccttcctgat	8	15	3	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:31543617C>T	uc003nui.3	+	0	268	c.99C>T	c.(97-99)ctC>ctT	p.L33L	TNF_uc003nuj.3_5'Flank	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	33					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	GCTTGTTCCTCAGCCTCTTCT	0.647									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				6	103					0	0	1	0	0	T	31543617	C	T	31543617	2	4	137	1	0	0	0	0	0	0	0	1	16268	813	29	2		2	TNF	6	31543617	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		31543617	139571450	26	2299											
FGD2	221472	broad.mit.edu	37	chr6	36995226	36995226	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagggtcctcagccacgcctGaccagagcctgatgtgcagc	12	14	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:36995226G>C	uc010jwp.1	+	14	1798	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	FGD2_uc003ong.2_Missense_Mutation_p.D265H|FGD2_uc011dtv.1_Missense_Mutation_p.D171H|FGD2_uc003onj.1_Missense_Mutation_p.D120H	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	543					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.P542L(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCCACGCCTGACCAGAGCCT	0.617													18	177					0	0	1	0	0	C	36995226	G	C	36995226	3	2	137	1	0	0	0	0	1	0	0	0	5833	1290	45	4	1685	4	FGD2	6	36995226	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	5451609	36995226	134119841	27	2300											
PPP2R5D	5528	broad.mit.edu	37	chr6	42976211	42976211	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctgagtgtctaccaccctCaggtgagctgccttcctcct	8	17	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:42976211C>T	uc003oth.3	+	8	1110	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Nonsense_Mutation_p.Q236*|PPP2R5D_uc011dva.2_Nonsense_Mutation_p.Q191*|PPP2R5D_uc003oti.3_Nonsense_Mutation_p.Q191*|PPP2R5D_uc021yzq.1_Nonsense_Mutation_p.Q310*|PPP2R5D_uc003otj.3_Nonsense_Mutation_p.Q191*	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	342					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTACCACCCTCAGGTGAGCTG	0.532													5	54					0	0	1	0	0	T	42976211	C	T	42976211	4	4	137	1	0	0	0	0	0	1	0	0	12395	827	29	2	1058	2	PPP2R5D	6	42976211	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	5980985	42976211	128138856	28	2301											
KCNQ5	56479	broad.mit.edu	37	chr6	73834209	73834209	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgcctgcacgcacctgaagGaaagaacaaggggaagcatc	12	11	0	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:73834209G>T	uc011dyh.2	+	9	1568	c.1221_splice	c.e9-1	p.K407_splice	KCNQ5_uc003pgj.4_Splice_Site_p.K407_splice|KCNQ5_uc011dyi.2_Intron|KCNQ5_uc010kat.3_Intron|KCNQ5_uc003pgk.3_Splice_Site_p.K407_splice|KCNQ5_uc011dyj.2_Splice_Site_p.K407_splice|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	407					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCACCTGAAGGAAAGAACAAG	0.383													4	50					0	0	1	0	0	T	73834209	G	T	73834209	5	4	137	1	0	0	0	0	0	0	1	0	8086	1188	41	4	1255	4	KCNQ5	6	73834209	Splice_Site	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	30857998	73834209	97280858	29	2302											
TIAM2	26230	broad.mit.edu	37	chr6	155450556	155450556	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcccgaagctgcctttctCactttaagagtaaccagcct	8	13	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:155450556C>T	uc003qqb.3	+	5	1472	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	TIAM2_uc003qqe.3_Missense_Mutation_p.H67Y	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	67					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGCCTTTCTCACTTTAAGAG	0.547													5	32					0	0	1	0	0	T	155450556	C	T	155450556	3	4	137	1	0	0	0	0	1	0	0	0	15888	826	29	2	201	2	TIAM2	6	155450556	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	81616347	155450556	15664511	30	2303											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				2	50					0	0	1	0	0	T	140453136	A	T	140453136	3	4	137	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DO-A2HM-01B-11D-A22D-08		140453136	18685527	31	2304											
LINGO2	158038	broad.mit.edu	37	chr9	27949733	27949733	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccttggaaggagtgaggctCaatggtgcgaagctgggccc	16	10	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:27949733C>T	uc010mjf.1	-	6	1471	c.937G>A	c.(937-939)Gag>Aag	p.E313K	LINGO2_uc003zqv.1_Missense_Mutation_p.E313K|LINGO2_uc003zqu.1_Missense_Mutation_p.E313K|LINGO2_uc022bfc.1_Missense_Mutation_p.E313K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	313						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAGTGAGGCTCAATGGTGCGA	0.542													5	69					0	0	1	0	0	T	27949733	C	T	27949733	3	4	137	1	0	0	0	0	1	0	0	0	8815	835	29	2	887	2	LINGO2	9	27949733	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		27949733	113263698	32	2305											
TMEM2	23670	broad.mit.edu	37	chr9	74300217	74300217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgcaaaggtatgaattgttCaagcaccccaaggccctgtc	9	12	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:74300217C>G	uc011lsa.1	-	23	4588	c.4048G>C	c.(4048-4050)Gaa>Caa	p.E1350Q	TMEM2_uc011lrz.1_Missense_Mutation_p.E343Q|TMEM2_uc010mos.2_Missense_Mutation_p.E1287Q|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.E184Q	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1350						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATGAATTGTTCAAGCACCCCA	0.458													7	84					0	0	1	0	0	G	74300217	C	G	74300217	3	3	137	1	0	0	0	0	1	0	0	0	16118	835	29	4	107	4	TMEM2	9	74300217	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	46350484	74300217	66913214	33	2306											
DNAJC25	548645	broad.mit.edu	37	chr9	114393996	114393996	+	Frame_Shift_Del	DEL	G	G	-													gccgaggaggctttcctgctGgtggcaaccgcctacgagac							TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:114393996delG	uc004bfl.3	+	0	365	c.309delG	c.(307-309)ctgfs	p.L103fs	DNAJC25_uc004bfn.3_Frame_Shift_Del_p.L103fs|DNAJC25_uc004bfm.3_5'UTR	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA.	103	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						CTTTCCTGCTGGTGGCAACCG	0.741													2	4	---	---	---	---						-	114393996	G	-	114393996	7	5	137	1	0	1	0	1	0	0	0	0	4643	1335	47	0	311	0	DNAJC25	9	114393996	Frame_Shift_Del	DEL	G	TCGA-DO-A2HM-01B-11D-A22D-08	40093779	114393996	26819435	34	2307											
KLF6	1316	broad.mit.edu	37	chr10	3824138	3824138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggggtcggaggtaaacTtggccgtgggagaaagttcc	16	7	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:3824138T>C	uc001iha.3	-	1	638	c.371A>G	c.(370-372)aAg>aGg	p.K124R	KLF6_uc010qaj.2_Missense_Mutation_p.K124R|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.K124R|KLF6_uc001ihb.2_Missense_Mutation_p.K124R	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	124					B cell differentiation	nucleus	zinc ion binding	p.K124R(2)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGAGGTAAACTTGGCCGTGGG	0.532											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	152					0	0	1	0	0	C	3824138	T	C	3824138	3	2	137	1	0	0	0	0	1	0	0	0	8350	1609	56	3	492	3	KLF6	10	3824138	Missense_Mutation	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08		3824138	131710609	35	2308											
GPR158	57512	broad.mit.edu	37	chr10	25464395	25464395	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctctgcctcctgcttgctCagctgggattgggagctgtt	12	12	2	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:25464395C>A	uc001isj.3	+	0	106	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	16						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTGCTTGCTCAGCTGGGATT	0.637													6	92					0	0	1	0	0	A	25464395	C	A	25464395	3	1	137	1	0	0	0	0	1	0	0	0	6663	827	29	4	48	4	GPR158	10	25464395	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	21640257	25464395	110070352	36	2309											
CCNJ	54619	broad.mit.edu	37	chr10	97817702	97817702	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcacggccagttcactttCagcaacctcagtatctccat	5	15	5	0	rs149060787		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:97817702C>T	uc010qoq.2	+	5	1215	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Nonsense_Mutation_p.Q275*|CCNJ_uc001kln.3_Nonsense_Mutation_p.Q274*	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	275						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AGTTCACTTTCAGCAACCTCA	0.502													14	159					0	0	1	0	0	T	97817702	C	T	97817702	4	4	137	1	0	0	0	0	0	1	0	0	2928	827	29	2	874	2	CCNJ	10	97817702	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	72353307	97817702	37717045	37	2310											
KCNIP2	30819	broad.mit.edu	37	chr10	103587154	103587154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catggacctcatgatgttctCatcctgtggccatgatgtga	10	10	2	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:103587154C>T	uc001kuc.3	-	9	1166	c.814G>A	c.(814-816)Gag>Aag	p.E272K	LOC100289509_uc021pxh.1_Intron|KCNIP2_uc010qqg.2_Missense_Mutation_p.E201K|KCNIP2_uc001ktx.3_Non-coding_Transcript|KCNIP2_uc001kty.3_Missense_Mutation_p.E155K|KCNIP2_uc001ktz.3_Missense_Mutation_p.E212K|KCNIP2_uc009xwv.3_Missense_Mutation_p.E203K|KCNIP2_uc001kub.3_Missense_Mutation_p.E257K|KCNIP2_uc001kue.3_Missense_Mutation_p.E239K|KCNIP2_uc001kud.3_Missense_Mutation_p.E214K|KCNIP2_uc001kuf.3_Missense_Mutation_p.E207K|KCNIP2_uc001kua.3_Missense_Mutation_p.E188K|KCNIP2_uc009xwu.3_Missense_Mutation_p.E206K	NM_014591	NP_055406	Q9NS61	KCIP2_HUMAN	Homo sapiens Kv channel interacting protein 2 (KCNIP2), transcript variant 1, mRNA.	257					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|ER retention sequence binding|calcium ion binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATGATGTTCTCATCCTGTGGC	0.527													10	176					0	0	1	0	0	T	103587154	C	T	103587154	3	4	137	1	0	0	0	0	1	0	0	0	8040	835	29	2	47	2	KCNIP2	10	103587154	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	5769452	103587154	31947593	38	2311											
NLRP14	338323	broad.mit.edu	37	chr11	7064628	7064628	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggttaactcaatctgatgtCtctagttttatggacagcaa	9	7	3	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:7064628C>G	uc001mfb.1	+	3	1694	c.1371C>G	c.(1369-1371)gtC>gtG	p.V457V		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	457	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATCTGATGTCTCTAGTTTTA	0.408													4	84					0	0	1	0	0	G	7064628	C	G	7064628	2	3	137	1	0	0	0	0	0	0	0	1	10476	900	32	4		4	NLRP14	11	7064628	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		7064628	127941888	39	2312											
RAG1	5896	broad.mit.edu	37	chr11	36597776	36597776	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaaactgtttaggcgcttCcggaaaatgaatgccaggca	10	9	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:36597776C>T	uc001mwu.4	+	1	3046	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F	RAG1_uc001mwt.3_Intron|RAG1_uc021qgb.1_Silent_p.F974F	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	974					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R973S(1)|p.R973C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTAGGCGCTTCCGGAAAATGA	0.468									Familial Hemophagocytic Lymphohistiocytosis				8	86					0	0	1	0	0	T	36597776	C	T	36597776	2	4	137	1	0	0	0	0	0	0	0	1	13003	854	30	2		2	RAG1	11	36597776	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	29533148	36597776	98408740	40	2313											
PACSIN3	29763	broad.mit.edu	37	chr11	47200728	47200728	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctcgaactgtggccagttCatggccatgcctggcccgtg	13	14	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:47200728C>A	uc001ndw.3	-	7	1225	c.882G>T	c.(880-882)atG>atT	p.M294I	ARFGAP2_uc001ndt.3_5'Flank|ARFGAP2_uc010rhb.2_5'Flank|ARFGAP2_uc001ndu.3_5'Flank|ARFGAP2_uc010rhc.2_5'Flank|ARFGAP2_uc010rhd.2_5'Flank|PACSIN3_uc001ndy.3_Missense_Mutation_p.M294I|PACSIN3_uc001ndx.3_Missense_Mutation_p.M294I	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	294					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GTGGCCAGTTCATGGCCATGC	0.627													26	265					0	0	1	0	0	A	47200728	C	A	47200728	3	1	137	1	0	0	0	0	1	0	0	0	11376	826	29	4	408	4	PACSIN3	11	47200728	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	10602952	47200728	87805788	41	2314											
SART1	9092	broad.mit.edu	37	chr11	65731499	65731499	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagccaacgatgctggcttCttggccctgtgttcagctcc	12	13	2	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:65731499C>T	uc009yqy.1	+	1	428	c.336C>T	c.(334-336)ttC>ttT	p.F112F	SART1_uc010rot.1_Intron|SART1_uc001ogl.3_Intron			O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	0					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATGCTGGCTTCTTGGCCCTGT	0.567													3	14					0	0	1	0	0	T	65731499	C	T	65731499	2	4	137	1	0	0	0	0	0	0	0	1	13846	928	32	2		2	SART1	11	65731499	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	18530771	65731499	69275017	42	2315											
CNIH2	254263	broad.mit.edu	37	chr11	66050518	66050518	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcccccagctggtggtcccaGaatactccatccacggcctc	8	18	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:66050518G>C	uc001ohi.1	+	3	443	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	CNIH2_uc009yrb.1_Non-coding_Transcript	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN	Homo sapiens cornichon homolog 2 (Drosophila) (CNIH2), mRNA.	71					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGTGGTCCCAGAATACTCCAT	0.597											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	157					0	0	1	0	0	C	66050518	G	C	66050518	3	2	137	1	0	0	0	0	1	0	0	0	3603	943	33	4	225	4	CNIH2	11	66050518	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	319019	66050518	68955998	43	2316											
ODZ4	26011	broad.mit.edu	37	chr11	78437190	78437190	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagcttggacgcgtcaatttCatagccctgcagcactgttg	10	11	2	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:78437190C>T	uc001ozl.4	-	22	3947	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1162					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GCGTCAATTTCATAGCCCTGC	0.443													26	234					0	0	1	0	0	T	78437190	C	T	78437190	3	4	137	1	0	0	0	0	1	0	0	0	10837	835	29	2	4873	2	ODZ4	11	78437190	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	12386672	78437190	56569326	44	2317											
DDX25	29118	broad.mit.edu	37	chr11	125780286	125780286	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctagctcctacttatgaaTtggctctgcaaactggccgt	9	12	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780286T>C	uc001qcz.4	+	6	676	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L	DDX25_uc010sbk.2_Silent_p.L179L	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	179	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TACTTATGAATTGGCTCTGCA	0.448													10	103					0	0	1	0	0	C	125780286	T	C	125780286	2	2	137	1	0	0	0	0	0	0	0	1	4352	1490	52	3		3	DDX25	11	125780286	Silent	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08	47343096	125780286	9226230	45	2318			1	9		2	2	33	N	T_G	9.199515e-05
DDX25	29118	broad.mit.edu	37	chr11	125780318	125780318	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actggccgtgtggttgagcaGatgggaaaattctgtgtgga	16	5	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780318G>A	uc001qcz.4	+	6	708	c.567G>A	c.(565-567)caG>caA	p.Q189Q	DDX25_uc010sbk.2_Silent_p.Q189Q	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	189	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TGGTTGAGCAGATGGGAAAAT	0.478													10	118					0	0	1	0	0	A	125780318	G	A	125780318	2	1	137	1	0	0	0	0	0	0	0	1	4352	933	33	2		2	DDX25	11	125780318	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	32	125780318	9226198	46	2319			1	9		2	2	33	N	T_G	9.199515e-05
CSDA	8531	broad.mit.edu	37	chr12	10862690	10862690	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcactgctgccgctcccTtcctcctcctcctccccagc	4	24	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:10862690T>C	uc001qyt.3	-	5	840	c.597A>G	c.(595-597)gaA>gaG	p.E199E	CSDA_uc001qyu.3_Intron	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	199					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					TGCCGCTCCCTTCCTCCTCCT	0.537													2	20					0	0	1	0	0	C	10862690	T	C	10862690	2	2	137	1	0	0	0	0	0	0	0	1	3927	1606	56	3		3	CSDA	12	10862690	Silent	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08		10862690	122989205	47	2320											
BCL2L14	79370	broad.mit.edu	37	chr12	12240312	12240312	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgtgcctgtagcttcaagttCtaagaaaggtaagctttcct	9	9	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:12240312C>G	uc001rac.3	+	2	800	c.599C>G	c.(598-600)tCt>tGt	p.S200C	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.S200C|BCL2L14_uc001rae.3_Missense_Mutation_p.S200C	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	200					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCTTCAAGTTCTAAGAAAGGT	0.532													5	57					0	0	1	0	0	G	12240312	C	G	12240312	3	3	137	1	0	0	0	0	1	0	0	0	1372	913	32	4	605	4	BCL2L14	12	12240312	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1377622	12240312	121611583	48	2321											
GRIN2B	2904	broad.mit.edu	37	chr12	13906627	13906627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctggatcttagaatctcCatcgtccagggacatgtcca	8	11	3	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:13906627C>T	uc001rbt.2	-	2	813	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	212					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTAGAATCTCCATCGTCCAGG	0.473													6	78					0	0	1	0	0	T	13906627	C	T	13906627	3	4	137	1	0	0	0	0	1	0	0	0	6780	603	21	2	3864	2	GRIN2B	12	13906627	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1666315	13906627	119945268	49	2322											
ADAMTS20	80070	broad.mit.edu	37	chr12	43858536	43858536	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacattccccgtaaccagtaCtgtaacagtgacagaaaata	7	10	0	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:43858536C>T	uc010skx.2	-	10	1368	c.1368_splice	c.e10-1	p.D456_splice		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	456	Peptidase M12B.			D -> E (in Ref. 2; CAD56159/CAD56160).		proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAACCAGTACTGTAACAGTG	0.343													4	20					0	0	1	0	0	T	43858536	C	T	43858536	5	4	137	1	0	0	0	0	0	0	1	0	266	579	20	2	4484	2	ADAMTS20	12	43858536	Splice_Site	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	29951909	43858536	89993359	50	2323											
ARID2	196528	broad.mit.edu	37	chr12	46244997	46244997	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcaggtacaagtacaagttCagcagccccaacaagtacag	9	11	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:46244997C>T	uc001ros.1	+	14	3091	c.3091C>T	c.(3091-3093)Cag>Tag	p.Q1031*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q1031*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q487*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q658*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q365*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1031	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGTACAAGTTCAGCAGCCCCA	0.502			"N, S, F"		hepatocellular carcinoma								9	78					0	0	1	0	0	T	46244997	C	T	46244997	4	4	137	1	0	0	0	0	0	1	0	0	915	827	29	2	3149	2	ARID2	12	46244997	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	2386461	46244997	87606898	51	2324											
COPZ1	22818	broad.mit.edu	37	chr12	54741787	54741787	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttctttgtttttgcagggtGatcctagagagtgatcccca	10	9	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:54741787G>A	uc009znm.1	+	6	520	c.423G>A	c.(421-423)gtG>gtA	p.V141V	COPZ1_uc001sfs.1_Silent_p.V133V|COPZ1_uc001sft.2_Silent_p.V82V|COPZ1_uc010sot.1_Silent_p.V110V	NM_016057	NP_057141	P61923	COPZ1_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 1 (COPZ1), mRNA.	133					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						TTTGCAGGGTGATCCTAGAGA	0.512													8	69					0	0	1	0	0	A	54741787	G	A	54741787	2	1	137	1	0	0	0	0	0	0	0	1	3741	1277	45	2		2	COPZ1	12	54741787	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	8496790	54741787	79110108	52	2325											
CHST11	50515	broad.mit.edu	37	chr12	104851270	104851270	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acttgcttgggatcctttatCctggtcatcttctatttcca	6	11	3	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:104851270C>A	uc001tkz.3	+	0	579	c.81C>A	c.(79-81)atC>atA	p.I27I	CHST11_uc001tky.3_Silent_p.I27I	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	27					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GATCCTTTATCCTGGTCATCT	0.532													6	91					0	0	1	0	0	A	104851270	C	A	104851270	2	1	137	1	0	0	0	0	0	0	0	1	3399	845	30	4		4	CHST11	12	104851270	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	50109483	104851270	29000625	53	2326											
TPT1	7178	broad.mit.edu	37	chr13	45914212	45914212	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatggttcatgacaatatcGacaccagtgattactgtgct	9	8	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:45914212G>A	uc001uzy.1	-	2	303	c.210C>T	c.(208-210)gtC>gtT	p.V70V	TPT1_uc001uzz.1_Silent_p.V36V|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|TPT1-AS1_uc010tfr.2_5'Flank|TPT1-AS1_uc001vac.3_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	Homo sapiens tumor protein, translationally-controlled 1 (TPT1), mRNA.	70					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TGACAATATCGACACCAGTGA	0.458													7	76					0	0	1	0	0	A	45914212	G	A	45914212	2	1	137	1	0	0	0	0	0	0	0	1	16426	1045	37	1		1	TPT1	13	45914212	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		45914212	69255666	54	2327											
EBPL	84650	broad.mit.edu	37	chr13	50237326	50237326	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatcagctttgccatattCtttccctaaagacaaaatcc	4	12	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:50237326C>T	uc001vdg.3	-	2	310	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.E83K	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	83					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGCCATATTCTTTCCCTAAA	0.398													6	81					0	0	1	0	0	T	50237326	C	T	50237326	3	4	137	1	0	0	0	0	1	0	0	0	4887	922	32	2	381	2	EBPL	13	50237326	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	4323114	50237326	64932552	55	2328											
FARP1	10160	broad.mit.edu	37	chr13	99063014	99063014	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaactgataaagcgtacttCatagctaaggaagtgtctac	8	9	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:99063014C>T	uc001vnh.3	+	14	1868	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	FARP1_uc001vnj.3_Silent_p.F543F	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	543	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCGTACTTCATAGCTAAGG	0.408													3	28					0	0	1	0	0	T	99063014	C	T	99063014	2	4	137	1	0	0	0	0	0	0	0	1	5676	825	29	2		2	FARP1	13	99063014	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	48825688	99063014	16106864	56	2329											
UBR1	197131	broad.mit.edu	37	chr15	43348594	43348594	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgcagttatagagatacttCtgtcatgatcatcactgata	8	7	4	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr15:43348594C>G	uc001zqq.3	-	10	1295	c.1229G>C	c.(1228-1230)aGa>aCa	p.R410T	UBR1_uc010udk.1_Missense_Mutation_p.R410T	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	410					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGAGATACTTCTGTCATGATC	0.284													5	88					0	0	1	0	0	G	43348594	C	G	43348594	3	3	137	1	0	0	0	0	1	0	0	0	16898	913	32	4	4168	4	UBR1	15	43348594	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		43348594	59182798	57	2330											
CSK	1445	broad.mit.edu	37	chr15	75091137	75091137	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcagggggaggtgggcctGagagcatgtctgggctgccc	19	10	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr15:75091137G>A	uc010bka.3	+	1	1201	c.408G>A	c.(406-408)ctG>ctA	p.L136L	CSK_uc010bkb.1_Intron|CSK_uc002ays.2_Intron|CSK_uc010bkc.1_5'Flank			P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 1, mRNA.	0	SH2.				T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						AGGTGGGCCTGAGAGCATGTC	0.617													5	58					0	0	1	0	0	A	75091137	G	A	75091137	2	1	137	1	0	0	0	0	0	0	0	1	3943	1305	45	2		2	CSK	15	75091137	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	31742543	75091137	27440255	58	2331											
SYT17	51760	broad.mit.edu	37	chr16	19195026	19195026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcgactccaacagcgacGatgtggactctctgacagac	9	15	1	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19195026G>A	uc002dfw.3	+	4	839	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SYT17_uc002dfx.3_Missense_Mutation_p.D109N|SYT17_uc002dfy.3_Missense_Mutation_p.D166N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	170						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CAACAGCGACGATGTGGACTC	0.567													9	75					0	0	1	0	0	A	19195026	G	A	19195026	3	1	137	1	0	0	0	0	1	0	0	0	15470	1058	37	1	526	1	SYT17	16	19195026	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		19195026	71159727	59	2332											
TMC5	79838	broad.mit.edu	37	chr16	19451644	19451644	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caatgcatactctgcagcctCtagaacaagcccagaccatc	6	15	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19451644C>G	uc002dgc.4	+	2	1033	c.284C>G	c.(283-285)tCt>tGt	p.S95C	TMC5_uc010vaq.2_Missense_Mutation_p.S95C|TMC5_uc002dgb.4_Missense_Mutation_p.S95C|TMC5_uc010var.2_Missense_Mutation_p.S95C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	95						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTGCAGCCTCTAGAACAAGC	0.483													16	149					0	0	1	0	0	G	19451644	C	G	19451644	3	3	137	1	0	0	0	0	1	0	0	0	15985	913	32	4	286	4	TMC5	16	19451644	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	256618	19451644	70903109	60	2333											
SIAH1	6477	broad.mit.edu	37	chr16	48395650	48395650	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagtcaatcgtcgcctAtgaccatttagctcaagtcg	7	13	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:48395650A>G	uc002efn.1	-	1	1179	c.783T>C	c.(781-783)caT>caC	p.H261H	MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efo.1_Silent_p.H230H|SIAH1_uc021ths.1_Silent_p.H230H|LOC100507577_uc021tht.1_5'Flank	NM_001006610	NP_003022	Q8IUQ4	SIAH1_HUMAN	Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 2, mRNA.	230	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATCGTCGCCTATGACCATTTA	0.443													3	34					0	0	1	0	0	G	48395650	A	G	48395650	2	3	137	1	0	0	0	0	0	0	0	1	14299	446	16	3		3	SIAH1	16	48395650	Silent	SNP	A	TCGA-DO-A2HM-01B-11D-A22D-08	28944006	48395650	41959103	61	2334											
CTCF	10664	broad.mit.edu	37	chr16	67663340	67663340	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgataattgtgctggcccaGatggcgtagagggggaaaat	15	6	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67663340G>C	uc002etl.3	+	9	2185	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	CTCF_uc010cek.3_Missense_Mutation_p.D253H|CTCF_uc002etm.1_Missense_Mutation_p.D70H	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	581					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.P580T(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGCTGGCCCAGATGGCGTAGA	0.408													7	57					0	0	1	0	0	C	67663340	G	C	67663340	3	2	137	1	0	0	0	0	1	0	0	0	4000	942	33	4	1771	4	CTCF	16	67663340	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	19267690	67663340	22691413	62	2335											
SLC12A4	6560	broad.mit.edu	37	chr16	67979417	67979417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcgtccgagtacaggctctCcagccgcagggccgagtgcc	13	16	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67979417C>G	uc010vkj.1	-	20	2933	c.2893G>C	c.(2893-2895)Gag>Cag	p.E965Q	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.E957Q|SLC12A4_uc010vkh.1_Missense_Mutation_p.E932Q|SLC12A4_uc002euz.2_Missense_Mutation_p.E963Q|SLC12A4_uc010vki.1_Missense_Mutation_p.E957Q|SLC12A4_uc002eva.2_Missense_Mutation_p.E963Q	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	963					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACAGGCTCTCCAGCCGCAGG	0.597													5	76					0	0	1	0	0	G	67979417	C	G	67979417	3	3	137	1	0	0	0	0	1	0	0	0	14385	864	30	4	382	4	SLC12A4	16	67979417	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	316077	67979417	22375336	63	2336											
CIRH1A	84916	broad.mit.edu	37	chr16	69201033	69201033	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atttcctcccacgaatgaatCagatgtcatccggaggcgca	9	12	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:69201033C>G	uc002ews.4	+	15	1985	c.1889C>G	c.(1888-1890)tCa>tGa	p.S630*	CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Nonsense_Mutation_p.S547*|CIRH1A_uc010cfi.3_Nonsense_Mutation_p.S432*	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	630						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACGAATGAATCAGATGTCATC	0.363													4	84					0	0	1	0	0	G	69201033	C	G	69201033	4	3	137	1	0	0	0	0	0	1	0	0	3434	838	29	4	1947	4	CIRH1A	16	69201033	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1221616	69201033	21153720	64	2337											
DEF8	54849	broad.mit.edu	37	chr16	90020690	90020691	+	Missense_Mutation	DNP	CC	CC	TT													gatgagaagctggcccgtttCcggcaggcccacctcaaccc							TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:90020690_90020691CC>TT	uc002fpn.2	+	2	346_347	c.213_214CC>TT	c.(211-216)ttccgg>ttTTgg	p.R72W	DEF8_uc021tmu.1_Missense_Mutation_p.R11W|DEF8_uc002fpl.3_Missense_Mutation_p.R11W|DEF8_uc002fpm.3_Missense_Mutation_p.R11W|DEF8_uc002fpo.2_Missense_Mutation_p.R11W|DEF8_uc002fpp.2_Missense_Mutation_p.R11W|DEF8_uc021tmv.1_Missense_Mutation_p.R11W|DEF8_uc010vpq.2_Intron|DEF8_uc010vpr.2_Missense_Mutation_p.R11W	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	72					intracellular signal transduction		zinc ion binding	p.F71F(2)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGGCCCGTTTCCGGCAGGCCCA	0.644													4	80					0	0	1	0	0	TT	90020691	CC	TT	90020690	3	4	137	1	0	0	0	0	1	0	0	0	4387	854	30	2	219	2	DEF8	16	90020690	Missense_Mutation	DNP	CC	TCGA-DO-A2HM-01B-11D-A22D-08	20819657	90020690	334063	65	2338											
TSR1	55720	broad.mit.edu	37	chr17	2233812	2233812	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaagacagcaatttaccttCtgttcatgaggtagtaaaga	8	7	2	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:2233812C>T	uc002fuj.3	-	9	2724	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.	589					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AATTTACCTTCTGTTCATGAG	0.433													4	75					0	0	1	0	0	T	2233812	C	T	2233812	2	4	137	1	0	0	0	0	0	0	0	1	16661	912	32	2		2	TSR1	17	2233812	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		2233812	78961398	66	2339											
CHD3	1107	broad.mit.edu	37	chr17	7798683	7798683	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgctgaagggtcgagtgcaGaagatcctacattggcggtg	16	7	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7798683G>C	uc002gjd.2	+	9	1709	c.1707G>C	c.(1705-1707)caG>caC	p.Q569H	CHD3_uc002gje.2_Missense_Mutation_p.Q510H|CHD3_uc002gjf.2_Missense_Mutation_p.Q510H|CHD3_uc002gjg.1_Missense_Mutation_p.Q338H	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	510	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTCGAGTGCAGAAGATCCTAC	0.557													8	138					0	0	1	0	0	C	7798683	G	C	7798683	3	2	137	1	0	0	0	0	1	0	0	0	3326	933	33	4	1849	4	CHD3	17	7798683	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	5564871	7798683	73396527	67	2340											
ALOX12B	242	broad.mit.edu	37	chr17	7979610	7979610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgtcataggtgagctccGacagagcccgtaccatcacc	11	14	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7979610G>A	uc002gjy.1	-	10	1676	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	472	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTGAGCTCCGACAGAGCCCG	0.607										Multiple Myeloma(8;0.094)			5	26					0	0	1	0	0	A	7979610	G	A	7979610	3	1	137	1	0	0	0	0	1	0	0	0	537	1059	37	1	710	1	ALOX12B	17	7979610	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	180927	7979610	73215600	68	2341											
MYH3	4621	broad.mit.edu	37	chr17	10533478	10533478	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagactctgtgttcttcttCtgctctccctcaagttcaaa	5	13	7	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:10533478C>T	uc002gmq.2	-	37	5581	c.5493G>A	c.(5491-5493)caG>caA	p.Q1831Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1831					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTCTTCTTCTGCTCTCCCT	0.552													19	226					0	0	1	0	0	T	10533478	C	T	10533478	2	4	137	1	0	0	0	0	0	0	0	1	10036	912	32	2		2	MYH3	17	10533478	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	2553868	10533478	70661732	69	2342											
FLII	2314	broad.mit.edu	37	chr17	18150552	18150552	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagccttcatctggtctttCttctcggcgtcgcgtttcac	8	14	7	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:18150552C>G	uc002gsr.1	-	20	2658	c.2607G>C	c.(2605-2607)aaG>aaC	p.K869N	FLII_uc002gsq.1_Missense_Mutation_p.K740N|FLII_uc010vxn.1_Missense_Mutation_p.K838N|FLII_uc010vxo.1_Missense_Mutation_p.K814N|FLII_uc002gss.1_Missense_Mutation_p.K868N	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	869					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCTGGTCTTTCTTCTCGGCGT	0.667													7	55					0	0	1	0	0	G	18150552	C	G	18150552	3	3	137	1	0	0	0	0	1	0	0	0	5925	912	32	4	1242	4	FLII	17	18150552	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	7617074	18150552	63044658	70	2343											
ITGA2B	3674	broad.mit.edu	37	chr17	42458006	42458006	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggccccgtaagctcccacGatcaggtctatagacatcga	9	13	2	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:42458006G>A	uc002igt.1	-	13	1433	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	467					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.I467I(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AAGCTCCCACGATCAGGTCTA	0.602													12	77					0	0	1	0	0	A	42458006	G	A	42458006	2	1	137	1	0	0	0	0	0	0	0	1	7876	1048	37	1		1	ITGA2B	17	42458006	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	24307454	42458006	38737204	71	2344											
CBX1	10951	broad.mit.edu	37	chr17	46148811	46148811	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagcgttagttcttgtcatCttttttgtcatcatcctccg	8	10	5	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:46148811C>G	uc002ind.4	-	4	1025	c.544G>C	c.(544-546)Gat>Cat	p.D182H	CBX1_uc002ine.4_Missense_Mutation_p.D182H	NM_006807	NP_006798	P83916	CBX1_HUMAN	Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA.	182						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TTCTTGTCATCTTTTTTGTCA	0.493													3	43					0	0	1	0	0	G	46148811	C	G	46148811	3	3	137	1	0	0	0	0	1	0	0	0	2717	913	32	4	17	4	CBX1	17	46148811	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	3690805	46148811	35046399	72	2345											
C17orf28	283987	broad.mit.edu	37	chr17	72959073	72959073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcaccacagtgctcctcCggtggctctgaaccgtgaag	10	15	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:72959073C>T	uc002jmj.4	-	3	640	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.R163Q	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	164						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					AGTGCTCCTCCGGTGGCTCTG	0.662													8	72					0	0	1	0	0	T	72959073	C	T	72959073	3	4	137	1	0	0	0	0	1	0	0	0	1853	652	23	1	1939	1	C17orf28	17	72959073	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	26810262	72959073	8236137	73	2346											
KIAA1468	57614	broad.mit.edu	37	chr18	59947626	59947626	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatgagtgaagcgttagttGacaagcgggttgctccggcc	15	9	0	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr18:59947626G>A	uc002lil.3	+	22	3216	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	KIAA1468_uc010xel.2_Intron|KIAA1468_uc002lim.3_Intron	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1001							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGCGTTAGTTGACAAGCGGGT	0.448													9	127					0	0	1	0	0	A	59947626	G	A	59947626	3	1	137	1	0	0	0	0	1	0	0	0	8236	1290	45	2	3091	2	KIAA1468	18	59947626	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		59947626	18129622	74	2347											
FZR1	51343	broad.mit.edu	37	chr19	3523039	3523039	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccagatcgtcatccagaatGagaacacgatgccacgcgtg	11	12	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3523039G>A	uc010dtk.2	+	0	86	c.52G>A	c.(52-54)Gag>Aag	p.E18K	FZR1_uc002lxt.2_Missense_Mutation_p.E18K|FZR1_uc002lxv.2_Missense_Mutation_p.E18K	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	18					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCCAGAATGAGAACACGAT	0.687													16	120					0	0	1	0	0	A	3523039	G	A	3523039	3	1	137	1	0	0	0	0	1	0	0	0	6138	1291	45	2	54	2	FZR1	19	3523039	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		3523039	55605944	75	2348											
GIPC3	126326	broad.mit.edu	37	chr19	3586871	3586871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtgcgtgggtgacagcatCgaagccatcaacgaccactc	12	12	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3586871C>T	uc002lyd.4	+	2	498	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	157	PDZ.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGACAGCATCGAAGCCATCA	0.627											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	42					0	0	1	0	0	T	3586871	C	T	3586871	2	4	137	1	0	0	0	0	0	0	0	1	6394	874	31	1		1	GIPC3	19	3586871	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	63832	3586871	55542112	76	2349											
HDGFRP2	84717	broad.mit.edu	37	chr19	4501226	4501226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcagccccagtgaatggcGaggccacatcacagaagggg	13	12	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:4501226G>A	uc002mao.3	+	14	1921	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	HDGFRP2_uc002map.3_Missense_Mutation_p.E610K|HDGFRP2_uc002maq.1_Missense_Mutation_p.E75K|HDGFRP2_uc010dua.3_Intron	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	605					transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGTGAATGGCGAGGCCACATC	0.637													9	80					0	0	1	0	0	A	4501226	G	A	4501226	3	1	137	1	0	0	0	0	1	0	0	0	7020	1059	37	1	1875	1	HDGFRP2	19	4501226	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	914355	4501226	54627757	77	2350											
ZNF177	7730	broad.mit.edu	37	chr19	9489680	9489680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggcagtggacttttcccagGaggagtgggcattgctggac	16	8	0	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:9489680G>C	uc021uon.1	+	2	237	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	ZNF177_uc002mli.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlj.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlk.3_Missense_Mutation_p.E26Q	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	26	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTTTTCCCAGGAGGAGTGGGC	0.458													5	53					0	0	1	0	0	C	9489680	G	C	9489680	3	2	137	1	0	0	0	0	1	0	0	0	17743	1175	41	4	82	4	ZNF177	19	9489680	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	4988454	9489680	49639303	78	2351											
ARRDC2	27106	broad.mit.edu	37	chr19	18119799	18119799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaccctggtgacatccttcGagggcaaacacggtagtgtc	13	11	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:18119799G>A	uc002nhv.3	+	2	504	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ARRDC2_uc002nhu.3_Missense_Mutation_p.E116K	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	121										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GACATCCTTCGAGGGCAAACA	0.617													6	134					0	0	1	0	0	A	18119799	G	A	18119799	3	1	137	1	0	0	0	0	1	0	0	0	983	1059	37	1	634	1	ARRDC2	19	18119799	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	8630119	18119799	41009184	79	2352											
PSG5	5673	broad.mit.edu	37	chr19	43680121	43680121	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttctcgtgacactgggtaGaatgaggatcctgttttcaa	10	7	2	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:43680121G>C	uc002ovu.3	-	2	741	c.610C>G	c.(610-612)Cta>Gta	p.L204V	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.L204V	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	204	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ACACTGGGTAGAATGAGGATC	0.507													13	131					0	0	1	0	0	C	43680121	G	C	43680121	3	2	137	1	0	0	0	0	1	0	0	0	12658	933	33	4	409	4	PSG5	19	43680121	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	25560322	43680121	15448862	80	2353											
PPP1R13L	10848	broad.mit.edu	37	chr19	45889407	45889407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcggcgggccttgcgcgggGagcccgccttccgcagcaca	16	17	0	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:45889407G>A	uc002pbn.3	-	8	1924	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	PPP1R13L_uc002pbm.3_Missense_Mutation_p.S195F|PPP1R13L_uc002pbo.3_Missense_Mutation_p.S616F	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	616					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTTGCGCGGGGAGCCCGCCTT	0.662													4	10					0	0	1	0	0	A	45889407	G	A	45889407	3	1	137	1	0	0	0	0	1	0	0	0	12358	1174	41	2	659	2	PPP1R13L	19	45889407	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	2209286	45889407	13239576	81	2354											
PRKD2	25865	broad.mit.edu	37	chr19	47177807	47177807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgatgcgctccgccagCccctgcatgtcgtggtcctg	11	16	0	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:47177807C>T	uc010xye.2	-	18	2982	c.2640G>A	c.(2638-2640)ggG>ggA	p.G880G	PRKD2_uc010eks.3_Silent_p.G273G|PRKD2_uc010ekt.3_Silent_p.G137G|PRKD2_uc002pfg.3_Silent_p.G713G|PRKD2_uc002pfh.3_Silent_p.G870G|PRKD2_uc002pfi.3_Silent_p.G870G|PRKD2_uc002pfj.3_Silent_p.G870G|PRKD2_uc002pfk.3_Silent_p.G713G|LOC100506068_uc021uwh.1_Intron	NM_016457	NP_057541	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 1, mRNA.	870					T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTCCGCCAGCCCCTGCATGT	0.632													5	36					0	0	1	0	0	T	47177807	C	T	47177807	2	4	137	1	0	0	0	0	0	0	0	1	12519	726	26	2		2	PRKD2	19	47177807	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1288400	47177807	11951176	82	2355											
SHANK1	50944	broad.mit.edu	37	chr19	51172499	51172499	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacaggctgcggctgaatttCatggctgggggtgctaggta	17	7	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:51172499C>T	uc002psx.1	-	21	2737	c.2718G>A	c.(2716-2718)atG>atA	p.M906I	SHANK1_uc002psw.1_Missense_Mutation_p.M290I	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	906					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCTGAATTTCATGGCTGGGG	0.647											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	41					0	0	1	0	0	T	51172499	C	T	51172499	3	4	137	1	0	0	0	0	1	0	0	0	14264	826	29	2	3775	2	SHANK1	19	51172499	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	3994692	51172499	7956484	83	2356											
SLC12A5	57468	broad.mit.edu	37	chr20	44670044	44670044	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agctggcttgggaaggaaatGagacggtgaccacacggcta	15	8	0	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr20:44670044G>C	uc010zxl.1	+	7	1076	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.E311Q	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	334					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAGGAAATGAGACGGTGAC	0.542													6	74					0	0	1	0	0	C	44670044	G	C	44670044	3	2	137	1	0	0	0	0	1	0	0	0	14386	1291	45	4	1086	4	SLC12A5	20	44670044	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		44670044	18355476	84	2357											
TRPM2	7226	broad.mit.edu	37	chr21	45799002	45799002	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacatcactatctccctgatCcagcagaaactgagcgtgtt	8	12	2	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr21:45799002C>G	uc010gpt.1	+	7	1237	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	TRPM2_uc002zet.1_Missense_Mutation_p.I379M|TRPM2_uc002zeu.1_Missense_Mutation_p.I379M|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.I379M|TRPM2_uc002zex.1_Missense_Mutation_p.I165M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	379						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTCCCTGATCCAGCAGAAAC	0.597													4	79					0	0	1	0	0	G	45799002	C	G	45799002	3	3	137	1	0	0	0	0	1	0	0	0	16583	845	30	4	1167	4	TRPM2	21	45799002	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		45799002	2330893	85	2358											
EIF3D	8664	broad.mit.edu	37	chr22	36920659	36920659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacctgggcaaatctcattCgattccgctggtaggccgtc	10	13	1	0			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr22:36920659C>T	uc003apr.3	-	3	455	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	EIF3D_uc011amt.2_Intron|EIF3D_uc011ams.2_5'UTR	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	97						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AAATCTCATTCGATTCCGCTG	0.512													14	114					0	0	1	0	0	T	36920659	C	T	36920659	3	4	137	1	0	0	0	0	1	0	0	0	5014	884	31	1	1404	1	EIF3D	22	36920659	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		36920659	14383907	86	2359											
FAM47C	442444	broad.mit.edu	37	chrX	37027623	37027623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgtcccatctctgcccGgaacctcccaagactcgcgt	10	16	1	1			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:37027623G>A	uc004ddl.2	+	0	1192	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	380										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAACCTCCCA	0.617													3	48					0	0	1	0	0	A	37027623	G	A	37027623	2	1	137	1	0	0	0	0	0	0	0	1	5571	1103	39	1		1	FAM47C	23	37027623	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		37027623	118242937	87	2360											
PHF16	9767	broad.mit.edu	37	chrX	46898446	46898446	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctgcaacttgtgcaagttGaagacgggggcttgtattca	13	7	2	2			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:46898446G>A	uc004dgx.3	+	7	1002	c.951G>A	c.(949-951)ttG>ttA	p.L317L	PHF16_uc004dgy.3_Silent_p.L317L	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	317					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGCAAGTTGAAGACGGGGG	0.532													6	24					0	0	1	0	0	A	46898446	G	A	46898446	2	1	137	1	0	0	0	0	0	0	0	1	11827	1281	45	2		2	PHF16	23	46898446	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	9870823	46898446	108372114	88	2361											
LAMP2	3920	broad.mit.edu	37	chrX	119573020	119573020	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgattagtgttacagagtctGatatccagcataactttttc	7	7	1	3			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:119573020G>C	uc010nqp.1	-	8	1402	c.1222C>G	c.(1222-1224)Cag>Gag	p.Q408E	LAMP2_uc004est.4_Intron|LAMP2_uc004ess.4_Intron|LAMP2_uc011mtz.2_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.Q361E	NM_013995	NP_054701	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant B, mRNA.	408					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TACAGAGTCTGATATCCAGCA	0.348													7	33					0	0	1	0	0	C	119573020	G	C	119573020	3	2	137	1	0	0	0	0	1	0	0	0	8618	1299	45	4	305	4	LAMP2	23	119573020	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	72674574	119573020	35697540	89	2362											
PLEKHA6	22874	broad.mit.edu	37	chr1	204192635	204192635	+	Frame_Shift_Del	DEL	G	G	-													agctgctgtcggcgccccgtGgggattcagacgacaggggg							TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:204192635delG	uc001hau.3	-	21	3427	c.3110delC	c.(3109-3111)ccafs	p.P1037fs		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	1037										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGCCCCGTGGGGATTCAGA	0.592													2	4	---	---	---	---						-	204192635	G	-	204192635	7	5	138	1	0	1	0	1	0	0	0	0	12060	1348	47	0	40	0	PLEKHA6	1	204192635	Frame_Shift_Del	DEL	G	TCGA-E3-A3DY-01A-11D-A20C-08		204192635	45057986	1	2363											
C2orf42	54980	broad.mit.edu	37	chr2	70408980	70408980	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagcggaatatggttccacaTgtcttgttcttacagctcag	9	9	3	0			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:70408980T>A	uc002sgh.3	-	2	466	c.138A>T	c.(136-138)acA>acT	p.T46T		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	46										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGTTCCACATGTCTTGTTCT	0.493													4	145					0	0	1	0	0	A	70408980	T	A	70408980	2	1	138	1	0	0	0	0	0	0	0	1	2166	1451	51	5		5	C2orf42	2	70408980	Silent	SNP	T	TCGA-E3-A3DY-01A-11D-A20C-08		70408980	172790393	2	2364											
MYO1B	4430	broad.mit.edu	37	chr2	192234339	192234339	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatggttggtaaatcgaatCaatgaaagcattaaggtact	9	5	2	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:192234339C>A	uc010fsg.2	+	11	1359	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	MYO1B_uc002usq.2_Silent_p.I368I|MYO1B_uc002usr.2_Silent_p.I368I	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	368	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R367*(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAAATCGAATCAATGAAAGCA	0.299													4	106					0	0	1	0	0	A	192234339	C	A	192234339	2	1	138	1	0	0	0	0	0	0	0	1	10069	816	29	4		4	MYO1B	2	192234339	Silent	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08	121825359	192234339	50965034	3	2365											
FGD5	152273	broad.mit.edu	37	chr3	14861821	14861821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcccctgatgtggtgGtcgtgctggaggaggaggcc	18	11	0	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:14861821G>A	uc003bzc.3	+	0	1353	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	FGD5_uc011avk.2_Missense_Mutation_p.V415I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	415					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGATGTGGTGGTCGTGCTGGA	0.682													3	54					0	0	1	0	0	A	14861821	G	A	14861821	3	1	138	1	0	0	0	0	1	0	0	0	5836	1261	44	2	1245	2	FGD5	3	14861821	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08		14861821	183160609	4	2366											
NIPBL	25836	broad.mit.edu	37	chr5	36985887	36985887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgataaactagaacgaAaacacaggcatgaatcaggg	9	7	1	3			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:36985887A>G	uc003jkl.4	+	9	3104	c.2605A>G	c.(2605-2607)Aaa>Gaa	p.K869E	NIPBL_uc003jkk.4_Missense_Mutation_p.K869E|NIPBL_uc003jkm.1_Missense_Mutation_p.K748E	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	869					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTAGAACGAAAACACAGGCA	0.398													7	75					0	0	1	0	0	G	36985887	A	G	36985887	3	3	138	1	0	0	0	0	1	0	0	0	10428	15	1	3	2639	3	NIPBL	5	36985887	Missense_Mutation	SNP	A	TCGA-E3-A3DY-01A-11D-A20C-08		36985887	143929373	5	2367											
BDP1	55814	broad.mit.edu	37	chr5	70840993	70840993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaaattctgttgaagagCcccagataaaggactctaaa	9	7	2	4			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:70840993C>T	uc003kbp.1	+	31	6954	c.6691C>T	c.(6691-6693)Ccc>Tcc	p.P2231S	BDP1_uc003kbo.3_Missense_Mutation_p.P2231S|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2231					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTTGAAGAGCCCCAGATAAA	0.468													22	78					0	0	1	0	0	T	70840993	C	T	70840993	3	4	138	1	0	0	0	0	1	0	0	0	1395	739	26	2	6817	2	BDP1	5	70840993	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08	33855106	70840993	110074267	6	2368											
SOX30	11063	broad.mit.edu	37	chr5	157078329	157078329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctaaggtcttgctggtgcGgcccaaaggcaccggacgtt	13	12	1	0			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:157078329G>A	uc003lxb.1	-	0	1100	c.758C>T	c.(757-759)cCg>cTg	p.P253L	SOX30_uc003lxc.1_Missense_Mutation_p.P253L|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	253					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCTGGTGCGGCCCAAAGGC	0.647													3	42					0	0	1	0	0	A	157078329	G	A	157078329	3	1	138	1	0	0	0	0	1	0	0	0	14952	1116	39	1	1523	1	SOX30	5	157078329	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08	86237336	157078329	23836931	7	2369											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				45	82					0	0	1	0	0	T	140453136	A	T	140453136	3	4	138	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3DY-01A-11D-A20C-08		140453136	18685527	8	2370											
ENTPD8	377841	broad.mit.edu	37	chr9	140332516	140332516	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggacgtgtgggaggagccCgcatcaaacacgatcccaaa	13	11	1	0			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr9:140332516C>A	uc004cmw.3	-	2	331	c.147G>T	c.(145-147)gcG>gcT	p.A49A	ENTPD8_uc004cmx.3_Silent_p.A49A|ENTPD8_uc004cmy.2_Silent_p.A49A	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	49						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGGAGGAGCCCGCATCAAACA	0.647													3	40					0	0	1	0	0	A	140332516	C	A	140332516	2	1	138	1	0	0	0	0	0	0	0	1	5145	639	23	4		4	ENTPD8	9	140332516	Silent	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		140332516	880915	9	2371											
NADSYN1	55191	broad.mit.edu	37	chr11	71185490	71185490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggttgtgacggggaccGcctgtactacgacggctgtg	17	9	0	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr11:71185490G>A	uc001oqn.3	+	8	842	c.716G>A	c.(715-717)cGc>cAc	p.R239H	NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	239	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACGGGGACCGCCTGTACTAC	0.562													8	122					0	0	1	0	0	A	71185490	G	A	71185490	3	1	138	1	0	0	0	0	1	0	0	0	10138	1087	38	1	750	1	NADSYN1	11	71185490	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08		71185490	63821026	10	2372											
POLE	5426	broad.mit.edu	37	chr12	133218793	133218793	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagcctgaactgttgatctCaacagtggcttggtcatcga	10	10	2	2			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr12:133218793C>G	uc001uks.1	-	37	5187	c.5143G>C	c.(5143-5145)Gag>Cag	p.E1715Q	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.E519Q|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1715					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGTTGATCTCAACAGTGGCT	0.557								DNA polymerases (catalytic subunits)					5	237					0	0	1	0	0	G	133218793	C	G	133218793	3	3	138	1	0	0	0	0	1	0	0	0	12196	835	29	4	1765	4	POLE	12	133218793	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		133218793	633102	11	2373											
G2E3	55632	broad.mit.edu	37	chr14	31061616	31061616	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcatttcccatgtggacttCagagagaatgtattttccag	8	8	2	2			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr14:31061616C>G	uc001wqk.2	+	4	479	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	G2E3_uc010tpe.1_Missense_Mutation_p.Q63E|G2E3_uc010tpf.1_Missense_Mutation_p.Q63E	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	109					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATGTGGACTTCAGAGAGAATG	0.353													3	76					0	0	1	0	0	G	31061616	C	G	31061616	3	3	138	1	0	0	0	0	1	0	0	0	6140	827	29	4	339	4	G2E3	14	31061616	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		31061616	76287924	12	2374											
MKL2	57496	broad.mit.edu	37	chr16	14304130	14304130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgcaacaaaggaggaCgagagaacaactagtggacc	14	8	0	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr16:14304130C>T	uc010uza.2	+	3	340	c.185C>T	c.(184-186)aCg>aTg	p.T62M	MKL2_uc002dcg.3_Missense_Mutation_p.T62M|MKL2_uc002dch.3_Missense_Mutation_p.T51M|MKL2_uc010uzb.2_Missense_Mutation_p.T11M	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	51					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAAGGAGGACGAGAGAACAA	0.483													5	116					0	0	1	0	0	T	14304130	C	T	14304130	3	4	138	1	0	0	0	0	1	0	0	0	9602	536	19	1	191	1	MKL2	16	14304130	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		14304130	76050623	13	2375											
NLGN4Y	22829	broad.mit.edu	37	chrY	16734111	16734111	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccatcaagttcaccCtcattgacagccaagcacag	6	15	4	1			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chrY:16734111C>G	uc011nas.1	+	1	291	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Missense_Mutation_p.L38V|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.L38V|NLGN4Y_uc004fti.4_Missense_Mutation_p.L38V	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	38					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAAGTTCACCCTCATTGACAG	0.463													5	66					0	0	1	0	0	G	16734111	C	G	16734111	3	3	138	1	0	0	0	0	1	0	0	0	10465	681	24	4	114	4	NLGN4Y	24	16734111	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		16734111	42639455	14	2376											
KIAA1522	57648	broad.mit.edu	37	chr1	33233411	33233411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaaggctgagaatgacAaacatctaagtgtagggcct	11	9	1	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:33233411A>G	uc001bvu.1	+	1	303	c.259A>G	c.(259-261)Aaa>Gaa	p.K87E	KIAA1522_uc010ohm.1_Missense_Mutation_p.K39E|KIAA1522_uc001bvv.2_Missense_Mutation_p.K28E|KIAA1522_uc010ohn.1_Missense_Mutation_p.K28E	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	28										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGAGAATGACAAACATCTAAG	0.602													6	167					0	0	1	0	0	G	33233411	A	G	33233411	3	3	139	1	0	0	0	0	1	0	0	0	8238	131	5	3	265	3	KIAA1522	1	33233411	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		33233411	216017210	1	2377											
SPAG17	200162	broad.mit.edu	37	chr1	118565931	118565931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggcttcaattgttacctttCtttgtgttggtaatctcaga	8	7	3	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:118565931C>G	uc001ehk.2	-	27	4133	c.4065G>C	c.(4063-4065)aaG>aaC	p.K1355N		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1355						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTTACCTTTCTTTGTGTTGG	0.363													23	25					0	0	1	0	0	G	118565931	C	G	118565931	3	3	139	1	0	0	0	0	1	0	0	0	14979	912	32	4	2690	4	SPAG17	1	118565931	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	85332520	118565931	130684690	2	2378											
ZNF692	55657	broad.mit.edu	37	chr1	249151529	249151529	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgaaggtgtagggcTcaaagagggtccccaggaga	15	9	2	3			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:249151529T>G	uc010pzr.2	-	3	806	c.394A>C	c.(394-396)Agc>Cgc	p.S132R	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc001ifc.2_Missense_Mutation_p.S127R|ZNF692_uc001iff.2_Missense_Mutation_p.S127R	NM_001136036	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 1, mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGTGTAGGGCTCAAAGAGGGT	0.637													54	81					0	0	1	0	0	G	249151529	T	G	249151529	3	3	139	1	0	0	0	0	1	0	0	0	18094	1551	54	5	1216	5	ZNF692	1	249151529	Missense_Mutation	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08	130585598	249151529	99092	3	2379											
GCC2	9648	broad.mit.edu	37	chr2	109087511	109087511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagtatacttacttagtctcAgtcaaagagataccatgtta	7	7	2	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr2:109087511A>T	uc002tec.3	+	5	1880	c.1726A>T	c.(1726-1728)Agt>Tgt	p.S576C	GCC2_uc002ted.3_Missense_Mutation_p.S475C	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	576					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTTAGTCTCAGTCAAAGAGA	0.289													14	15					0	0	1	0	0	T	109087511	A	T	109087511	3	4	139	1	0	0	0	0	1	0	0	0	6286	188	7	5	1748	5	GCC2	2	109087511	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		109087511	134111862	4	2380											
AMBN	258	broad.mit.edu	37	chr4	71465351	71465351	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaggccaagagaacaTgaaactcaacaggtgagtga	13	6	1	5			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:71465351T>A	uc003hfl.3	+	4	383	c.282T>A	c.(280-282)caT>caA	p.H94Q		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	94					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CAAGAGAACATGAAACTCAAC	0.383													5	79					0	0	1	0	0	A	71465351	T	A	71465351	3	1	139	1	0	0	0	0	1	0	0	0	563	1461	51	5	300	5	AMBN	4	71465351	Missense_Mutation	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08		71465351	119688925	5	2381											
FAM13A	10144	broad.mit.edu	37	chr4	89702434	89702434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaccttttcgacttccTgagtattcaaaatacaatca	5	9	2	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:89702434T>A	uc003hse.1	-	10	1548	c.1340A>T	c.(1339-1341)cAg>cTg	p.Q447L	FAM13A_uc003hsb.1_Missense_Mutation_p.Q121L|FAM13A_uc003hsd.1_Missense_Mutation_p.Q121L|FAM13A_uc003hsc.1_Missense_Mutation_p.Q107L|FAM13A_uc011cdq.1_Missense_Mutation_p.Q93L|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.Q261L|FAM13A_uc010ikr.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	447					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCGACTTCCTGAGTATTCAA	0.358													38	78					0	0	1	0	0	A	89702434	T	A	89702434	3	1	139	1	0	0	0	0	1	0	0	0	5452	1580	55	5	1787	5	FAM13A	4	89702434	Missense_Mutation	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08	18237083	89702434	101451842	6	2382											
MARCH1	55016	broad.mit.edu	37	chr4	164506962	164506962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgcagagctcacagcagCgtgtatctgagctctttatc	9	11	3	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:164506962C>T	uc003iqs.2	-	5	544	c.362G>A	c.(361-363)cGc>cAc	p.R121H	MARCH1_uc003iqr.2_Missense_Mutation_p.R104H	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	121					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTCACAGCAGCGTGTATCTGA	0.527													40	118					0	0	1	0	0	T	164506962	C	T	164506962	3	4	139	1	0	0	0	0	1	0	0	0	9298	768	27	1	519	1	MARCH1	4	164506962	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	74804528	164506962	26647314	7	2383											
NSD1	64324	broad.mit.edu	37	chr5	176636938	176636938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggactagtgtgaaaaAgggccacatacaatttgaag	10	5	0	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr5:176636938A>G	uc003mfr.4	+	4	1676	c.1538A>G	c.(1537-1539)aAg>aGg	p.K513R	NSD1_uc003mft.4_Missense_Mutation_p.K244R|NSD1_uc003mfs.1_Missense_Mutation_p.K410R|NSD1_uc011dfx.2_Missense_Mutation_p.K161R	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	513					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		AGTGTGAAAAAGGGCCACATA	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			3	87					0	0	1	0	0	G	176636938	A	G	176636938	3	3	139	1	0	0	0	0	1	0	0	0	10669	72	3	3	1552	3	NSD1	5	176636938	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		176636938	4278322	8	2384											
PDLIM7	9260	broad.mit.edu	37	chr5	176919616	176919616	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacccgcattctcgccatcGatgctcagcacccagtcacc	6	19	3	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr5:176919616G>A	uc003mhc.1	-	2	244	c.159C>T	c.(157-159)atC>atT	p.I53I	PDLIM7_uc003mha.1_5'Flank|PDLIM7_uc003mhd.1_5'UTR|PDLIM7_uc003mhe.1_Non-coding_Transcript|PDLIM7_uc003mhb.1_Silent_p.I53I|PDLIM7_uc003mhf.3_Silent_p.I53I|PDLIM7_uc003mhg.1_Silent_p.I53I	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	Homo sapiens PDZ and LIM domain 7 (enigma) (PDLIM7), transcript variant 1, mRNA.	53	PDZ.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			TCTCGCCATCGATGCTCAGCA	0.652													4	141					0	0	1	0	0	A	176919616	G	A	176919616	2	1	139	1	0	0	0	0	0	0	0	1	11684	1048	37	1		1	PDLIM7	5	176919616	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	282678	176919616	3995644	9	2385											
KIF6	221458	broad.mit.edu	37	chr6	39512314	39512314	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatagaggaagtttcttcatCacttcagaaaggatactgat	9	6	4	3			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr6:39512314C>G	uc010jxb.1	-	11	1538	c.1443G>C	c.(1441-1443)gtG>gtC	p.V481V	KIF6_uc010jxa.1_Intron|KIF6_uc003oot.2_Intron|KIF6_uc011dua.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	481					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTTTCTTCATCACTTCAGAAA	0.408													4	49					0	0	1	0	0	G	39512314	C	G	39512314	2	3	139	1	0	0	0	0	0	0	0	1	8308	841	29	4		4	KIF6	6	39512314	Silent	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08		39512314	131602753	10	2386											
COBL	23242	broad.mit.edu	37	chr7	51092971	51092971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggaatggctggtggggaCagaagaccaaggtcttctag	18	6	2	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr7:51092971C>T	uc003tpr.4	-	11	3788	c.3603G>A	c.(3601-3603)ctG>ctA	p.L1201L	COBL_uc003tps.3_Intron|COBL_uc011kcl.2_Intron|COBL_uc003tpp.4_Silent_p.L987L|COBL_uc003tpq.4_Intron|COBL_uc003tpo.4_Silent_p.L743L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1201										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGGTGGGGACAGAAGACCAA	0.627													25	48					0	0	1	0	0	T	51092971	C	T	51092971	2	4	139	1	0	0	0	0	0	0	0	1	3653	465	17	2		2	COBL	7	51092971	Silent	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08		51092971	108045692	11	2387											
DCAF13	25879	broad.mit.edu	37	chr8	104444914	104444914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatatgagaacaaatacaAtctgttggaaccctatggaa	8	6	1	2			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr8:104444914A>G	uc003yln.3	+	6	1463	c.1186A>G	c.(1186-1188)Atc>Gtc	p.I396V	DCAF13_uc003ylm.1_Missense_Mutation_p.I129V	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	244					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AACAAATACAATCTGTTGGAA	0.323													27	34					0	0	1	0	0	G	104444914	A	G	104444914	3	3	139	1	0	0	0	0	1	0	0	0	4266	101	4	3	1212	3	DCAF13	8	104444914	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		104444914	41919108	12	2388											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112705375	112705375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccagcgctgcagggccGgaggcaaacttggatcagcc	14	15	1	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr9:112705375G>A	uc004bei.2	+	6	1098	c.906G>A	c.(904-906)ccG>ccA	p.P302P	PALM2-AKAP2_uc004beg.3_Silent_p.P270P|PALM2-AKAP2_uc004beh.4_Silent_p.P302P|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	558							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGCAGGGCCGGAGGCAAACT	0.502													3	58					0	0	1	0	0	A	112705375	G	A	112705375	2	1	139	1	0	0	0	0	0	0	0	1	11410	1103	39	1		1	PALM2-AKAP2	9	112705375	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		112705375	28508056	13	2389											
YME1L1	10730	broad.mit.edu	37	chr10	27420862	27420862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagccctgttgttgtccGgaagcggactaaagggaaga	13	8	1	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr10:27420862G>A	uc001iti.3	-	8	1165	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	YME1L1_uc001itj.3_Missense_Mutation_p.R262W|YME1L1_uc010qdl.2_Missense_Mutation_p.R229W	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	319					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.R319L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTTGTTGTCCGGAAGCGGACT	0.368													3	85					0	0	1	0	0	A	27420862	G	A	27420862	3	1	139	1	0	0	0	0	1	0	0	0	17484	1115	39	1	1414	1	YME1L1	10	27420862	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		27420862	108113885	14	2390											
ZNF33B	7582	broad.mit.edu	37	chr10	43089114	43089114	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtgttctctgatgtttagtGaggtcagatttctggtaaaa	11	4	3	3			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr10:43089114G>A	uc001jaf.1	-	4	1399	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.L316L|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	428						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATGTTTAGTGAGGTCAGATT	0.418													65	96					0	0	1	0	0	A	43089114	G	A	43089114	2	1	139	1	0	0	0	0	0	0	0	1	17852	1277	45	2		2	ZNF33B	10	43089114	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	15668252	43089114	92445633	15	2391											
HRAS	3265	broad.mit.edu	37	chr11	533875	533875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcgctgtactcctcctGgccggcggtatccaggatgt	13	13	0	0	rs28933406		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:533875G>T	uc001lpv.3	-	2	369	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			73	118					0	0	1	0	0	T	533875	G	T	533875	3	4	139	1	0	0	0	0	1	0	0	0	7348	1357	47	4	467	4	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		533875	134472641	16	2392											
KLHL35	283212	broad.mit.edu	37	chr11	75134897	75134897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaccgcaggctccaccGgtcctccttggggtcaaagc	13	14	1	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:75134897G>A	uc001owm.2	-	4	1402	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA.	248										lung(2)|stomach(1)	3						AGGCTCCACCGGTCCTCCTTG	0.612													3	28					0	0	1	0	0	A	75134897	G	A	75134897	3	1	139	1	0	0	0	0	1	0	0	0	8388	1115	39	1	357	1	KLHL35	11	75134897	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	74601022	75134897	59871619	17	2393											
FAM76B	143684	broad.mit.edu	37	chr11	95522617	95522617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacgctgggtacacttggtgCaggcgtacagggccgaggcc	16	11	0	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:95522617C>G	uc001pfn.2	-	0	338	c.26G>C	c.(25-27)tGc>tCc	p.C9S	CEP57_uc001pfo.2_5'Flank|CEP57_uc009ywn.2_5'Flank|CEP57_uc010ruh.2_5'Flank|CEP57_uc001pfp.2_5'Flank|CEP57_uc001pfq.2_5'Flank|CEP57_uc001pfr.2_5'Flank|FAM76B_uc001pfm.2_Non-coding_Transcript	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.	9										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACACTTGGTGCAGGCGTACAG	0.711													5	24					0	0	1	0	0	G	95522617	C	G	95522617	3	3	139	1	0	0	0	0	1	0	0	0	5625	710	25	4	1033	4	FAM76B	11	95522617	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	20387720	95522617	39483899	18	2394											
TRHDE	29953	broad.mit.edu	37	chr12	72667128	72667128	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttcccgagtggcggtggaGaaagtgcagctggccgagga	18	9	0	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr12:72667128G>A	uc001sxa.3	+	0	600	c.570G>A	c.(568-570)gaG>gaA	p.E190E	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	190					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGCGGTGGAGAAAGTGCAGC	0.612													4	105					0	0	1	0	0	A	72667128	G	A	72667128	2	1	139	1	0	0	0	0	0	0	0	1	16476	933	33	2		2	TRHDE	12	72667128	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		72667128	61184767	19	2395											
ZNF839	55778	broad.mit.edu	37	chr14	102807889	102807890	+	Frame_Shift_Del	DEL	GG	GG	-													aggaggctgacccaggcacaGgtggcagcgtttcctggaga							TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr14:102807889_102807890delGG	uc010awk.1	+	7	2164_2165	c.2157_2158delGG	c.(2155-2160)caggtgfs	p.Q719fs	ZNF839_uc001ylo.2_Frame_Shift_Del_p.Q603fs|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Frame_Shift_Del_p.Q528fs|ZNF839_uc001yls.2_Frame_Shift_Del_p.Q220fs|ZNF839_uc001ylt.2_Frame_Shift_Del_p.Q193fs	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	603						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCCAGGCACAGGTGGCAGCGTT	0.589													7	11	---	---	---	---						-	102807890	GG	-	102807889	7	5	139	1	0	1	0	1	0	0	0	0	18185	991	35	0	2187	0	ZNF839	14	102807889	Frame_Shift_Del	DEL	GG	TCGA-E3-A3DZ-01A-11D-A20C-08		102807889	4541651	20	2396											
AKT1	207	broad.mit.edu	37	chr14	105242100	105242100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctgcttcttgaggccGtcagccacagtctggatggc	11	14	3	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr14:105242100G>A	uc001ypk.3	-	4	878	c.324C>T	c.(322-324)gaC>gaT	p.D108D	AKT1_uc001ypl.3_Silent_p.D108D|AKT1_uc010axa.3_Silent_p.D108D|AKT1_uc001ypm.3_Silent_p.D108D|AKT1_uc001ypn.3_Silent_p.D108D|AKT1_uc010tyk.2_Silent_p.D46D	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	108	PH.				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCTTGAGGCCGTCAGCCACAG	0.617		1	Mis		"breast, colorectal, ovarian, NSCLC"								4	117					0	0	1	0	0	A	105242100	G	A	105242100	2	1	139	1	0	0	0	0	0	0	0	1	478	1136	40	1		1	AKT1	14	105242100	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	2434211	105242100	2107440	21	2397											
TMEM62	80021	broad.mit.edu	37	chr15	43446993	43446995	+	In_Frame_Del	DEL	CAG	CAG	-													aagtggaatcctagaaactaCagtagtgggacacataacat							TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr15:43446993_43446995delCAG	uc001zqr.3	+	8	1425_1427	c.1146_1148delCAG	c.(1144-1149)tacagt>tat	p.S384del	TMEM62_uc010bda.3_In_Frame_Del_p.S254del	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	384						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTAGAAACTACAGTAGTGGGACA	0.379													15	29	---	---	---	---						-	43446995	CAG	-	43446993	7	5	139	1	0	1	0	1	0	0	0	0	16186	489	17	0	1180	0	TMEM62	15	43446993	In_Frame_Del	DEL	CAG	TCGA-E3-A3DZ-01A-11D-A20C-08		43446993	59084399	22	2398											
HERC1	8925	broad.mit.edu	37	chr15	63901361	63901361	+	Frame_Shift_Del	DEL	G	G	-													atgtcgattgagcggcagttGttgatggcatagcgcaggcg							TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr15:63901361delG	uc002amp.3	-	77	14653	c.14505delC	c.(14503-14505)aacfs	p.N4835fs	HERC1_uc002amo.3_Non-coding_Transcript	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4835	HECT.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCGGCAGTTGTTGATGGCAT	0.602													20	24	---	---	---	---						-	63901361	G	-	63901361	7	5	139	1	0	1	0	1	0	0	0	0	7057	1368	48	0	84	0	HERC1	15	63901361	Frame_Shift_Del	DEL	G	TCGA-E3-A3DZ-01A-11D-A20C-08	20454368	63901361	38630031	23	2399											
CREB3L3	84699	broad.mit.edu	37	chr19	4157169	4157169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagccacctcccccgccGgctgccatcctgcccagcct	8	23	0	0	rs145839480	byFrequency	TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:4157169G>A	uc002lzl.3	+	2	450	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	CREB3L3_uc002lzm.3_Missense_Mutation_p.G102S|CREB3L3_uc010xib.2_Missense_Mutation_p.G103S|CREB3L3_uc010xic.2_Missense_Mutation_p.G103S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	112					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCCGCCGGCTGCCATCC	0.657													6	124					0	0	1	0	0	A	4157169	G	A	4157169	3	1	139	1	0	0	0	0	1	0	0	0	3858	1116	39	1	344	1	CREB3L3	19	4157169	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		4157169	54971814	24	2400											
DNMT1	1786	broad.mit.edu	37	chr19	10249155	10249155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgtcatccaccaccaCgctcagctggcaggcccggg	10	17	3	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:10249155C>T	uc010xlc.2	-	34	4255	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	DNMT1_uc002mnf.3_Missense_Mutation_p.V267M|DNMT1_uc002mng.3_Missense_Mutation_p.V1343M|DNMT1_uc002mnh.3_Missense_Mutation_p.V1238M|DNMT1_uc010xld.2_Missense_Mutation_p.V1343M	NM_001130823	NP_001124295	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 1, mRNA.	1343	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCCACCACCACGCTCAGCTGG	0.642													5	175					0	0	1	0	0	T	10249155	C	T	10249155	3	4	139	1	0	0	0	0	1	0	0	0	4675	536	19	1	851	1	DNMT1	19	10249155	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	6091986	10249155	48879828	25	2401											
ZNF507	22847	broad.mit.edu	37	chr19	32844893	32844893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagcacagaaaatcatcaGcagcagccccaataaaaaag	6	11	3	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:32844893G>A	uc002nte.3	+	2	1429	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N	ZNF507_uc002ntc.2_Missense_Mutation_p.S386N|ZNF507_uc010xrn.1_Missense_Mutation_p.S386N|ZNF507_uc002ntd.3_Missense_Mutation_p.S386N	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAATCATCAGCAGCAGCCCC	0.458													3	46					0	0	1	0	0	A	32844893	G	A	32844893	3	1	139	1	0	0	0	0	1	0	0	0	17950	971	34	2	1159	2	ZNF507	19	32844893	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	22595738	32844893	26284090	26	2402											
ZNF211	10520	broad.mit.edu	37	chr19	58153415	58153415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaatcctttagccaaAgttctagcctcattcaacac	7	11	3	0			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:58153415A>G	uc002qpr.2	+	5	2056	c.1753A>G	c.(1753-1755)Agt>Ggt	p.S585G	ZNF211_uc010yhb.1_Missense_Mutation_p.S525G|ZNF211_uc002qpp.2_Missense_Mutation_p.S534G|ZNF211_uc002qpq.2_Missense_Mutation_p.S521G|ZNF211_uc002qpt.2_Missense_Mutation_p.S533G|ZNF211_uc010yhc.1_Missense_Mutation_p.S533G|ZNF211_uc010yhe.1_Missense_Mutation_p.S512G|ZNF211_uc010yhd.1_Missense_Mutation_p.S460G	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	521						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTAGCCAAAGTTCTAGCCT	0.438													6	156					0	0	1	0	0	G	58153415	A	G	58153415	3	3	139	1	0	0	0	0	1	0	0	0	17764	72	3	3	1614	3	ZNF211	19	58153415	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08	25308522	58153415	975568	27	2403											
OTUD6A	139562	broad.mit.edu	37	chrX	69283005	69283005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatctactgcgacaacatcGtgcgcaccacggcatgggga	12	12	1	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:69283005G>T	uc004dxu.1	+	0	665	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	211	OTU.							p.V211M(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CGACAACATCGTGCGCACCAC	0.612													37	55					0	0	1	0	0	T	69283005	G	T	69283005	3	4	139	1	0	0	0	0	1	0	0	0	11316	1145	40	4	633	4	OTUD6A	23	69283005	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		69283005	85987555	28	2404											
MID2	11043	broad.mit.edu	37	chrX	107167660	107167660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactccagagcgggactcGctacatcttcatcgttaaag	10	11	2	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:107167660G>A	uc004enl.3	+	7	2096	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	MID2_uc004enk.3_Missense_Mutation_p.R478H	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	508	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGCGGGACTCGCTACATCTTC	0.458													6	112					0	0	1	0	0	A	107167660	G	A	107167660	3	1	139	1	0	0	0	0	1	0	0	0	9578	1087	38	1	1553	1	MID2	23	107167660	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	37884655	107167660	48102900	29	2405											
ATP1B4	23439	broad.mit.edu	37	chrX	119500552	119500552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcaaggtcagccaacagGcaatgcctggtggcagaaat	14	9	2	1			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:119500552G>A	uc004esr.3	+	1	320	c.236G>A	c.(235-237)gGc>gAc	p.G79D	ATP1B4_uc004esq.3_Missense_Mutation_p.G79D|ATP1B4_uc011mtx.2_Intron|ATP1B4_uc011mty.2_Missense_Mutation_p.G79D	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	79					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAGCCAACAGGCAATGCCTGG	0.527													42	48					0	0	1	0	0	A	119500552	G	A	119500552	3	1	139	1	0	0	0	0	1	0	0	0	1135	1203	42	2	242	2	ATP1B4	23	119500552	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	12332892	119500552	35770008	30	2406											
CASZ1	54897	broad.mit.edu	37	chr1	10714607	10714607	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtggaagttctcgtgggtCatcacgtcagacgtgctcgt	13	9	4	1			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr1:10714607C>T	uc001aro.3	-	9	2027	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	CASZ1_uc001arp.1_Missense_Mutation_p.M569I|CASZ1_uc009vmx.2_Missense_Mutation_p.M593I	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCTCGTGGGTCATCACGTCAG	0.597													6	286					0	0	1	0	0	T	10714607	C	T	10714607	3	4	140	1	0	0	0	0	1	0	0	0	2685	826	29	2	3624	2	CASZ1	1	10714607	Missense_Mutation	SNP	C	TCGA-E3-A3E0-01A-11D-A20C-08		10714607	238536014	1	2407											
TRIM46	80128	broad.mit.edu	37	chr1	155147749	155147749	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctggaaaagctgcagGtagcttgtcttgctccttcc	11	11	2	0			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr1:155147749G>A	uc001fhw.1	+	2		c.302_splice	c.e2+1		KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Intron|TRIM46_uc010pez.1_Intron|TRIM46_uc001fhq.3_Intron|TRIM46_uc001fhr.3_Intron|TRIM46_uc001fhs.1_Intron|TRIM46_uc001fht.1_Intron|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Intron|TRIM46_uc009wpg.1_Intron|TRIM46_uc009wpf.2_Intron			Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.							intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAAGCTGCAGGTAGCTTGTCT	0.582													3	47					0	0	1	0	0	A	155147749	G	A	155147749	5	1	140	1	0	0	0	0	0	0	1	0	16518	1276	44	2		2	TRIM46	1	155147749	Splice_Site	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08	144433142	155147749	94102872	2	2408											
CPSF3	51692	broad.mit.edu	37	chr2	9570993	9570993	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttatagatggcttctttctGattatgtcaaagttaggtaa	8	4	3	2			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr2:9570993G>A	uc002qzo.1	+	3	360	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CPSF3_uc010ewx.1_Missense_Mutation_p.D109N|CPSF3_uc002qzp.1_Missense_Mutation_p.D72N	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	109					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCTTCTTTCTGATTATGTCAA	0.348													20	46					0	0	1	0	0	A	9570993	G	A	9570993	3	1	140	1	0	0	0	0	1	0	0	0	3826	1290	45	2	339	2	CPSF3	2	9570993	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		9570993	233628380	3	2409											
BCL11A	53335	broad.mit.edu	37	chr2	60688216	60688216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggccccccgaggccgactCgcccggggagcagccgcggc	16	19	0	0			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr2:60688216C>T	uc002sae.1	-	3	2059	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	BCL11A_uc002sab.3_Missense_Mutation_p.E611K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E280K|BCL11A_uc010ypj.2_Missense_Mutation_p.E577K|BCL11A_uc002sad.1_Missense_Mutation_p.E459K|BCL11A_uc002saf.1_Missense_Mutation_p.E577K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	611					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGGCCGACTCGCCCGGGGAG	0.662			T	IGH@	B-CLL								16	29					0	0	1	0	0	T	60688216	C	T	60688216	3	4	140	1	0	0	0	0	1	0	0	0	1363	893	31	1	786	1	BCL11A	2	60688216	Missense_Mutation	SNP	C	TCGA-E3-A3E0-01A-11D-A20C-08	51117223	60688216	182511157	4	2410											
MUC13	56667	broad.mit.edu	37	chr3	124629312	124629312	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgagaatgacaatgccagcGatggtgcccacaatagtgag	12	9	0	3			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr3:124629312G>T	uc003ehq.2	-	9	1323	c.1284C>A	c.(1282-1284)atC>atA	p.I428I		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	428						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAATGCCAGCGATGGTGCCCA	0.403													22	103					0	0	1	0	0	T	124629312	G	T	124629312	2	4	140	1	0	0	0	0	0	0	0	1	9971	1048	37	4		4	MUC13	3	124629312	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		124629312	73393118	5	2411											
RBM47	54502	broad.mit.edu	37	chr4	40440487	40440487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgcagcacacgccgaGcaggcggcccgggcggatct	15	16	1	0			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr4:40440487G>A	uc003gvc.2	-	3	1134	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	RBM47_uc003gvd.2_Missense_Mutation_p.L142F|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.L104F|RBM47_uc003gvg.1_Missense_Mutation_p.L142F	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	142	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CACACGCCGAGCAGGCGGCCC	0.622													3	63					0	0	1	0	0	A	40440487	G	A	40440487	3	1	140	1	0	0	0	0	1	0	0	0	13141	971	34	2	1373	2	RBM47	4	40440487	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		40440487	150713789	6	2412											
TRIM36	55521	broad.mit.edu	37	chr5	114482788	114482788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctgaagttagtagttGgaccaacatactcatgttga	11	6	2	2			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr5:114482788G>T	uc003kqs.3	-	2	1111	c.602C>A	c.(601-603)cCa>cAa	p.P201Q	TRIM36_uc011cwc.2_Missense_Mutation_p.P189Q|TRIM36_uc003kqt.3_Missense_Mutation_p.P46Q	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	201						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTTAGTAGTTGGACCAACATA	0.328													15	29					0	0	1	0	0	T	114482788	G	T	114482788	3	4	140	1	0	0	0	0	1	0	0	0	16507	1348	47	4	1616	4	TRIM36	5	114482788	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		114482788	66432472	7	2413											
RAPGEF6	51735	broad.mit.edu	37	chr5	130769300	130769300	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accgtgaagaaatctcactaTggctggagtcagacaagttg	11	8	2	3			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr5:130769300T>A	uc003kvp.2	-	25	4089	c.3947A>T	c.(3946-3948)cAt>cTt	p.H1316L	RAPGEF6_uc003kvo.2_Missense_Mutation_p.H1279L|RAPGEF6_uc010jdi.2_Missense_Mutation_p.H1274L|RAPGEF6_uc010jdj.2_Missense_Mutation_p.H1274L|RAPGEF6_uc003kvn.2_Missense_Mutation_p.H1266L|RAPGEF6_uc003kvm.2_Missense_Mutation_p.H189L	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1266	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATCTCACTATGGCTGGAGTC	0.448													32	62					0	0	1	0	0	A	130769300	T	A	130769300	3	1	140	1	0	0	0	0	1	0	0	0	13048	1464	51	5	1024	5	RAPGEF6	5	130769300	Missense_Mutation	SNP	T	TCGA-E3-A3E0-01A-11D-A20C-08	16286512	130769300	50145960	8	2414											
ZPBP	11055	broad.mit.edu	37	chr7	50057890	50057890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtacatcgcttgggtccTttttcagtgtctagagatga	10	8	3	2			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr7:50057890T>C	uc003tou.3	-	5	799	c.729A>G	c.(727-729)aaA>aaG	p.K243K	ZPBP_uc010kyw.3_Silent_p.K242K	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	243					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCTTGGGTCCTTTTTCAGTGT	0.294													3	55					0	0	1	0	0	C	50057890	T	C	50057890	2	2	140	1	0	0	0	0	0	0	0	1	18216	1606	56	3		3	ZPBP	7	50057890	Silent	SNP	T	TCGA-E3-A3E0-01A-11D-A20C-08		50057890	109080773	9	2415											
GOT1L1	137362	broad.mit.edu	37	chr8	37795175	37795175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttttgagaagagatgatGtaaactatacgagcatcctt	8	7	0	3			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr8:37795175G>A	uc011lbj.1	-	2	490	c.390C>T	c.(388-390)taC>taT	p.Y130Y		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	130					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			AAGAGATGATGTAAACTATAC	0.498													10	14					0	0	1	0	0	A	37795175	G	A	37795175	2	1	140	1	0	0	0	0	0	0	0	1	6580	1372	48	2		2	GOT1L1	8	37795175	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		37795175	108568847	10	2416											
PGM5	5239	broad.mit.edu	37	chr9	70999448	70999448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctagaaaacaaattcAaaccattcagaggtaacaga	6	8	2	4			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr9:70999448A>G	uc004agr.3	+	2	788	c.559A>G	c.(559-561)Aaa>Gaa	p.K187E		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	187					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAACAAATTCAAACCATTCAG	0.378													27	49					0	0	1	0	0	G	70999448	A	G	70999448	3	3	140	1	0	0	0	0	1	0	0	0	11801	131	5	3	569	3	PGM5	9	70999448	Missense_Mutation	SNP	A	TCGA-E3-A3E0-01A-11D-A20C-08		70999448	70213983	11	2417											
TRHDE	29953	broad.mit.edu	37	chr12	73012793	73012793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagataaattactggaccGcatggaaaactacaacattt	6	8	1	1			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr12:73012793G>A	uc001sxa.3	+	12	2339	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	770					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R770C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACTGGACCGCATGGAAAAC	0.333													3	68					0	0	1	0	0	A	73012793	G	A	73012793	3	1	140	1	0	0	0	0	1	0	0	0	16476	1087	38	1	2359	1	TRHDE	12	73012793	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		73012793	60839102	12	2418											
C14orf21	161424	broad.mit.edu	37	chr14	24774190	24774190	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccctttcggccaccatgtGgctcgaaatgtggccttgac	11	13	0	1			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr14:24774190G>T	uc001wol.1	+	9	1863	c.1800G>T	c.(1798-1800)gtG>gtT	p.V600V	C14orf21_uc001wom.1_Silent_p.V151V	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	600							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		GCCACCATGTGGCTCGAAATG	0.552													29	60					0	0	1	0	0	T	24774190	G	T	24774190	2	4	140	1	0	0	0	0	0	0	0	1	1769	1335	47	4		4	C14orf21	14	24774190	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		24774190	82575350	13	2419											
COL4A5	1287	broad.mit.edu	37	chrX	107812034	107812034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacctcaaggtattcccGgatgcaatggaaccaaggtg	12	10	1	0	rs104886046		TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chrX:107812034G>A	uc022ccg.1	+	5	569	c.367G>A	c.(367-369)Gga>Aga	p.G123R	COL4A5_uc004enz.1_Missense_Mutation_p.G123R	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	123	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTATTCCCGGATGCAATGG	0.383									Alport syndrome with Diffuse Leiomyomatosis				55	104					0	0	1	0	0	A	107812034	G	A	107812034	3	1	140	1	0	0	0	0	1	0	0	0	3694	1117	39	1	389	1	COL4A5	23	107812034	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		107812034	47458526	14	2420											
ODZ1	10178	broad.mit.edu	37	chrX	123556255	123556255	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgtctgtttcagctatgaaGagcagcccgctgtgggagac	13	10	2	3			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chrX:123556255G>C	uc010nqy.3	-	23	4402	c.4338C>G	c.(4336-4338)ctC>ctG	p.L1446L	ODZ1_uc011muj.2_Silent_p.L1445L|ODZ1_uc004euj.3_Silent_p.L1439L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1439					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAGCTATGAAGAGCAGCCCGC	0.537													6	209					0	0	1	0	0	C	123556255	G	C	123556255	2	2	140	1	0	0	0	0	0	0	0	1	10834	929	33	4		4	ODZ1	23	123556255	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08	15744221	123556255	31714305	15	2421											
INPP5B	3633	broad.mit.edu	37	chr1	38409493	38409493	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccagcgtaaaatcccgcgaGactggcactatctggtccag	10	13	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:38409493G>C	uc001ccg.1	-	3	319	c.225C>G	c.(223-225)gtC>gtG	p.V75V	INPP5B_uc009vvk.1_Silent_p.V16V|INPP5B_uc001cch.3_Silent_p.V16V	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	75					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AATCCCGCGAGACTGGCACTA	0.582													6	207					0	0	1	0	0	C	38409493	G	C	38409493	2	2	141	1	0	0	0	0	0	0	0	1	7755	929	33	4		4	INPP5B	1	38409493	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		38409493	210841128	1	2422											
AGL	178	broad.mit.edu	37	chr1	100366293	100366293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgtcgggatgctgtgtGgtggtggctgcagtgtatcc	16	7	0	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:100366293G>A	uc001dsi.1	+	25	3864	c.3464G>A	c.(3463-3465)tGg>tAg	p.W1155*	AGL_uc001dsj.1_Nonsense_Mutation_p.W1155*|AGL_uc001dsk.1_Nonsense_Mutation_p.W1155*|AGL_uc001dsl.1_Nonsense_Mutation_p.W1155*|AGL_uc001dsm.1_Nonsense_Mutation_p.W1139*|AGL_uc001dsn.1_Nonsense_Mutation_p.W1138*	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1155					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GATGCTGTGTGGTGGTGGCTG	0.428													5	329					0	0	1	0	0	A	100366293	G	A	100366293	4	1	141	1	0	0	0	0	0	1	0	0	384	1357	47	2	3631	2	AGL	1	100366293	Nonsense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	61956800	100366293	148884328	2	2423											
S100A7	6278	broad.mit.edu	37	chr1	153430314	153430314	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccggaacagggcgctgctcCatggctctgcttgtggtagt	14	12	1	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:153430314C>G	uc001fbv.1	-	2	345	c.274G>C	c.(274-276)Gga>Cga	p.G92R		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	92					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGCTGCTCCATGGCTCTGC	0.517													4	121					0	0	1	0	0	G	153430314	C	G	153430314	3	3	141	1	0	0	0	0	1	0	0	0	13783	603	21	4	35	4	S100A7	1	153430314	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	53064021	153430314	95820307	3	2424											
FBXO41	150726	broad.mit.edu	37	chr2	73486158	73486158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatcttagagaagccgggCctccgtcgcagagcctgcgg	14	12	1	3			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:73486158C>T	uc021vjh.1	-	11	2670	c.2580G>A	c.(2578-2580)agG>agA	p.R860R		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	860						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AGAAGCCGGGCCTCCGTCGCA	0.677													4	7					0	0	1	0	0	T	73486158	C	T	73486158	2	4	141	1	0	0	0	0	0	0	0	1	5750	738	26	2		2	FBXO41	2	73486158	Silent	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		73486158	169713215	4	2425											
VWA3B	200403	broad.mit.edu	37	chr2	98750306	98750306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattccacgcatttgccgagAgaacagagtgtgtagaattt	11	7	0	3			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:98750306A>G	uc002syo.3	+	6	1156	c.892A>G	c.(892-894)Aga>Gga	p.R298G	VWA3B_uc010yvh.2_Missense_Mutation_p.R148G|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Missense_Mutation_p.R298G|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	298										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTTGCCGAGAGAACAGAGTG	0.473													5	323					0	0	1	0	0	G	98750306	A	G	98750306	3	3	141	1	0	0	0	0	1	0	0	0	17238	296	11	3	914	3	VWA3B	2	98750306	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08	25264148	98750306	144449067	5	2426											
PKP4	8502	broad.mit.edu	37	chr2	159477861	159477861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagacaacagacagcaGcattcattcataggatcaac	8	10	3	2			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:159477861G>A	uc002tzv.3	+	5	791	c.531G>A	c.(529-531)caG>caA	p.Q177Q	PKP4_uc002tzt.1_Silent_p.Q29Q|PKP4_uc002tzu.3_Silent_p.Q177Q|PKP4_uc002tzw.3_Silent_p.Q177Q|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.Q175Q|PKP4_uc002uaa.3_Silent_p.Q29Q	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	177					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACAGACAGCAGCATTCATTCA	0.453										HNSCC(62;0.18)			3	100					0	0	1	0	0	A	159477861	G	A	159477861	2	1	141	1	0	0	0	0	0	0	0	1	11987	962	34	2		2	PKP4	2	159477861	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	60727555	159477861	83721512	6	2427											
DBN1	1627	broad.mit.edu	37	chr5	176886214	176886214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgctggagtcagacggGctccgcgtggggatgggagt	21	8	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr5:176886214G>A	uc003mgx.2	-	11	1299	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	DBN1_uc011dga.1_Silent_p.S69S|DBN1_uc003mgy.2_Silent_p.S337S|DBN1_uc010jkn.1_Silent_p.S287S|DBN1_uc003mgz.1_Silent_p.S320S	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	337					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			AGTCAGACGGGCTCCGCGTGG	0.697													4	215					0	0	1	0	0	A	176886214	G	A	176886214	2	1	141	1	0	0	0	0	0	0	0	1	4252	1194	42	2		2	DBN1	5	176886214	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		176886214	4029046	7	2428											
ABCB4	5244	broad.mit.edu	37	chr7	87031478	87031478	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgcctttctgtgccagcagCtgctgatgcgtgccatgctc	11	13	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:87031478C>G	uc003uiv.1	-	27	3871	c.3795G>C	c.(3793-3795)caG>caC	p.Q1265H	ABCB4_uc003uiw.1_Missense_Mutation_p.Q1258H|ABCB4_uc003uix.1_Missense_Mutation_p.Q1211H	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1265	ABC transporter 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTGCCAGCAGCTGCTGATGCG	0.443													5	185					0	0	1	0	0	G	87031478	C	G	87031478	3	3	141	1	0	0	0	0	1	0	0	0	43	796	28	4	69	4	ABCB4	7	87031478	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		87031478	72107185	8	2429											
ORAI2	80228	broad.mit.edu	37	chr7	102087134	102087134	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatccacaacctgaactccAtcagcgagtccccgcatgag	7	16	1	2			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:102087134A>T	uc010lhz.1	+	3	635	c.400A>T	c.(400-402)Atc>Ttc	p.I134F	ORAI2_uc003uzj.2_Missense_Mutation_p.I134F|ORAI2_uc003uzk.2_Missense_Mutation_p.I134F|ORAI2_uc011kks.1_Missense_Mutation_p.I57F	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	134						integral to membrane	protein binding	p.S133A(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCTGAACTCCATCAGCGAGTC	0.627													5	230					0	0	1	0	0	T	102087134	A	T	102087134	3	4	141	1	0	0	0	0	1	0	0	0	11258	217	8	5	406	5	ORAI2	7	102087134	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08	15055656	102087134	57051529	9	2430											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				42	64					0	0	1	0	0	T	140453136	A	T	140453136	3	4	141	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08	38366002	140453136	18685527	10	2431											
INTS5	80789	broad.mit.edu	37	chr11	62414648	62414648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaagtcccgaatgaaGcgaccccgctctgattggaa	12	11	1	3			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr11:62414648G>A	uc001nud.3	-	1	2957	c.2904C>T	c.(2902-2904)cgC>cgT	p.R968R	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	968					snRNA processing	integral to membrane|integrator complex	protein binding	p.G967S(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCCGAATGAAGCGACCCCGCT	0.597													5	171					0	0	1	0	0	A	62414648	G	A	62414648	2	1	141	1	0	0	0	0	0	0	0	1	7781	958	34	2		2	INTS5	11	62414648	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		62414648	72591868	11	2432											
NCAPD3	23310	broad.mit.edu	37	chr11	134029936	134029936	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttgtcaactgcaaagaagtCcttgagctcatctcggtaat	8	9	3	2			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr11:134029936C>G	uc001qhd.1	-	28	4324	c.3718G>C	c.(3718-3720)Gac>Cac	p.D1240H	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	1240					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCAAAGAAGTCCTTGAGCTCA	0.473													6	98					0	0	1	0	0	G	134029936	C	G	134029936	3	3	141	1	0	0	0	0	1	0	0	0	10206	855	30	4	806	4	NCAPD3	11	134029936	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	71615288	134029936	976580	12	2433											
ZC3H13	23091	broad.mit.edu	37	chr13	46619560	46619560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgggtccaagcctcTcaaatacactgggtcttcgg	11	12	2	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr13:46619560T>A	uc010tfw.1	-	0	89	c.83A>T	c.(82-84)gAg>gTg	p.E28V	ZC3H13_uc001vas.1_Missense_Mutation_p.E28V|ZC3H13_uc001vat.1_Missense_Mutation_p.E28V	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	28							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCAAGCCTCTCAAATACACT	0.403													7	250					0	0	1	0	0	A	46619560	T	A	46619560	3	1	141	1	0	0	0	0	1	0	0	0	17562	1551	54	5	4675	5	ZC3H13	13	46619560	Missense_Mutation	SNP	T	TCGA-E3-A3E1-01A-11D-A20C-08		46619560	68550318	13	2434											
EPB42	2038	broad.mit.edu	37	chr15	43489545	43489545	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggtgacgcttttatagttGgttaggttctggaacatgtt	12	5	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr15:43489545G>T	uc001zrb.4	-	12	2421	c.2121C>A	c.(2119-2121)acC>acA	p.T707T	EPB42_uc001zqz.4_Silent_p.T344T|EPB42_uc001zra.4_Silent_p.T677T|EPB42_uc010udm.2_Silent_p.T599T	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	677					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TTTTATAGTTGGTTAGGTTCT	0.483													3	70					0	0	1	0	0	T	43489545	G	T	43489545	2	4	141	1	0	0	0	0	0	0	0	1	5158	1335	47	4		4	EPB42	15	43489545	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		43489545	59041847	14	2435											
MSLNL	401827	broad.mit.edu	37	chr16	823129	823129	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccacagcccagccgtgcacCtgtgcgagcttggccttgac	11	17	0	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr16:823129C>G	uc002cjz.1	-	10	2139	c.2139_splice	c.e10+1	p.Q713_splice		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	362					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCCGTGCACCTGTGCGAGCT	0.657													6	102					0	0	1	0	0	G	823129	C	G	823129	5	3	141	1	0	0	0	0	0	0	1	0	9882	695	24	4	1050	4	MSLNL	16	823129	Splice_Site	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		823129	89531624	15	2436											
ZZEF1	23140	broad.mit.edu	37	chr17	4020293	4020293	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttttgtaccagctgatccaGagactccttcaggacggaag	10	11	1	2			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:4020293G>C	uc002fxe.3	-	2	731	c.667C>G	c.(667-669)Ctg>Gtg	p.L223V	ZZEF1_uc002fxk.1_Missense_Mutation_p.L223V	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	223							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGCTGATCCAGAGACTCCTTC	0.512													17	322					0	0	1	0	0	C	4020293	G	C	4020293	3	2	141	1	0	0	0	0	1	0	0	0	18252	933	33	4	8430	4	ZZEF1	17	4020293	Missense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		4020293	77174917	16	2437											
GPR142	350383	broad.mit.edu	37	chr17	72366698	72366698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcccacgccccacGtcagcgggctgagccaggag	13	18	1	1			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:72366698G>A	uc021ucp.1	+	2	397	c.388G>A	c.(388-390)Gtc>Atc	p.V130I	GPR142_uc010wqy.2_Missense_Mutation_p.V133I	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	133						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGCCCCACGTCAGCGGGCT	0.617													6	44					0	0	1	0	0	A	72366698	G	A	72366698	3	1	141	1	0	0	0	0	1	0	0	0	6650	1145	40	1	407	1	GPR142	17	72366698	Missense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	68346405	72366698	8828512	17	2438											
MX1	4599	broad.mit.edu	37	chr21	42812881	42812881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggtggtccccagtaAtgtggacatcgccaccacag	12	13	0	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr21:42812881A>G	uc002yzh.3	+	10	1606	c.659A>G	c.(658-660)aAt>aGt	p.N220S	MX1_uc010goq.3_Missense_Mutation_p.N220S|MX1_uc002yzi.3_Missense_Mutation_p.N220S	NM_001144925	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 1, mRNA.	220					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GTCCCCAGTAATGTGGACATC	0.572													14	147					0	0	1	0	0	G	42812881	A	G	42812881	3	3	141	1	0	0	0	0	1	0	0	0	9997	101	4	3	677	3	MX1	21	42812881	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08		42812881	5317014	18	2439											
ZMAT1	84460	broad.mit.edu	37	chrX	101138612	101138612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggctttttttcttttttCgatgcttaagctttcctgaa	6	8	1	1	rs141908807	byFrequency	TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:101138612C>T	uc011mrl.2	-	6	2137	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	ZMAT1_uc004eim.3_Missense_Mutation_p.R425Q|ZMAT1_uc004ein.3_Missense_Mutation_p.R425Q|ZMAT1_uc011mrm.2_Missense_Mutation_p.R425Q	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	425						nucleus	zinc ion binding	p.R425Q(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTTTTTTCGATGCTTAAG	0.383													4	65					0	0	1	0	0	T	101138612	C	T	101138612	3	4	141	1	0	0	0	0	1	0	0	0	17688	884	31	1	133	1	ZMAT1	23	101138612	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		101138612	54131948	19	2440											
MCF2	4168	broad.mit.edu	37	chrX	138668623	138668623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaattcagtttcctcagtaCttataaaagctccctgttgc	5	12	2	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:138668623C>T	uc011mwo.1	-	26	2935	c.2774G>A	c.(2773-2775)aGt>aAt	p.S925N	MCF2_uc004fav.3_Missense_Mutation_p.S865N|MCF2_uc004fau.3_Missense_Mutation_p.S849N|MCF2_uc010nsh.2_Intron|MCF2_uc011mwm.2_Intron|MCF2_uc011mwl.2_Missense_Mutation_p.S826N|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Missense_Mutation_p.S909N	NM_001171876	NP_001165347	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 3, mRNA.	849					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTCCTCAGTACTTATAAAAGC	0.383													7	92					0	0	1	0	0	T	138668623	C	T	138668623	3	4	141	1	0	0	0	0	1	0	0	0	9378	565	20	2	271	2	MCF2	23	138668623	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	37530011	138668623	16601937	20	2441											
MTMR1	8776	broad.mit.edu	37	chrX	149931175	149931175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctcgccctcccactcCgccacctccgtccacacctc	5	25	0	0			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:149931175C>T	uc004feh.1	+	15	2130	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	MTMR1_uc011mya.1_Silent_p.S563S|MTMR1_uc004fei.3_Silent_p.S657S|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	657						plasma membrane	protein tyrosine phosphatase activity	p.S657S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCACTCCGCCACCTCCG	0.672													20	62					0	0	1	0	0	T	149931175	C	T	149931175	2	4	141	1	0	0	0	0	0	0	0	1	9938	639	23	1		1	MTMR1	23	149931175	Silent	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	11262552	149931175	5339385	21	2442											
USP37	57695	broad.mit.edu	37	chr2	219346911	219346911	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccaatcttattgttaagcgAgagagccacattgaagctat	8	9	1	2			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr2:219346911A>T	uc010fvs.1	-	16	2130	c.1717T>A	c.(1717-1719)Tcg>Acg	p.S573T	USP37_uc002vie.2_Missense_Mutation_p.S573T|USP37_uc010zkf.1_Missense_Mutation_p.S573T|USP37_uc002vif.2_Missense_Mutation_p.S573T|USP37_uc002vig.2_Missense_Mutation_p.S501T	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	573					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGTTAAGCGAGAGAGCCACA	0.388													5	143					0	0	1	0	0	T	219346911	A	T	219346911	3	4	142	1	0	0	0	0	1	0	0	0	17065	304	11	5	1262	5	USP37	2	219346911	Missense_Mutation	SNP	A	TCGA-E3-A3E2-01A-11D-A20C-08		219346911	23852462	1	2443											
AKIRIN2	55122	broad.mit.edu	37	chr6	88385612	88385612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccatatcgtcgcattatTtgatcatgcgtaaacttcac	5	11	3	1			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr6:88385612T>C	uc003pmk.3	-	3	1150	c.567A>G	c.(565-567)caA>caG	p.Q189Q		NM_018064	NP_060534	Q53H80	AKIR2_HUMAN	Homo sapiens akirin 2 (AKIRIN2), mRNA.	189					innate immune response|transcription, DNA-dependent	transcriptional repressor complex				large_intestine(4)	4						GTCGCATTATTTGATCATGCG	0.323													3	67					0	0	1	0	0	C	88385612	T	C	88385612	2	2	142	1	0	0	0	0	0	0	0	1	462	1838	64	3		3	AKIRIN2	6	88385612	Silent	SNP	T	TCGA-E3-A3E2-01A-11D-A20C-08		88385612	82729455	2	2444											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	59					0	0	1	0	0	T	140453136	A	T	140453136	3	4	142	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E2-01A-11D-A20C-08		140453136	18685527	3	2445											
GDF6	392255	broad.mit.edu	37	chr8	97157245	97157245	+	Frame_Shift_Del	DEL	G	G	-													acccctcggcgcccgcgcccGggcccgcagcctcggccgag							TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr8:97157245delG	uc003yhp.3	-	1	1014	c.914delC	c.(913-915)ccgfs	p.P305fs		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	305					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					gcccgcgcccgggcccgcAGC	0.776													2	4	---	---	---	---						-	97157245	G	-	97157245	7	5	142	1	0	1	0	1	0	0	0	0	6317	1116	39	0	457	0	GDF6	8	97157245	Frame_Shift_Del	DEL	G	TCGA-E3-A3E2-01A-11D-A20C-08		97157245	49206777	4	2446											
UNC13B	10497	broad.mit.edu	37	chr9	35396935	35396935	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgagataagaaggatggaGtaagtcaggggctttggctg	16	4	1	2			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr9:35396935G>A	uc003zwr.3	+	27	3577	c.3285_splice	c.e27+1	p.G1095_splice	UNC13B_uc003zwq.3_Splice_Site_p.G1095_splice	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1095	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGGATGGAGTAAGTCAGGG	0.552													4	171					0	0	1	0	0	A	35396935	G	A	35396935	5	1	142	1	0	0	0	0	0	0	1	0	16982	1043	36	2	3392	2	UNC13B	9	35396935	Splice_Site	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		35396935	105816496	5	2447											
TXNRD1	7296	broad.mit.edu	37	chr12	104651840	104651840	+	Frame_Shift_Del	DEL	T	T	-													gtgtgttccttattttgtgcTtgaacttgatcaaacaggta							TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr12:104651840delT	uc021rcx.1	+	2	309	c.287delT	c.(286-288)cttfs	p.L96fs	TXNRD1_uc001tkm.1_Frame_Shift_Del_p.L99fs	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	96	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TATTTTGTGCTTGAACTTGAT	0.308													2	4	---	---	---	---						-	104651840	T	-	104651840	7	5	142	1	0	1	0	1	0	0	0	0	16804	1609	56	0	297	0	TXNRD1	12	104651840	Frame_Shift_Del	DEL	T	TCGA-E3-A3E2-01A-11D-A20C-08		104651840	29200055	6	2448											
ST8SIA2	8128	broad.mit.edu	37	chr15	92981586	92981586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttggttttcacaggaaGcagattttaaagttcttgga	10	4	2	1			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr15:92981586G>A	uc002bra.3	+	3	449	c.294G>A	c.(292-294)aaG>aaA	p.K98K	ST8SIA2_uc002brb.3_Silent_p.K77K	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	98					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.R97G(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TTCACAGGAAGCAGATTTTAA	0.488													4	208					0	0	1	0	0	A	92981586	G	A	92981586	2	1	142	1	0	0	0	0	0	0	0	1	15231	962	34	2		2	ST8SIA2	15	92981586	Silent	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		92981586	9549806	7	2449											
OR3A3	8392	broad.mit.edu	37	chr17	3324703	3324703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcttcagacaaggataAgggggttggggttttcatga	15	4	3	2			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr17:3324703A>G	uc010vrd.2	+	0	842	c.842A>G	c.(841-843)aAg>aGg	p.K281R		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GACAAGGATAAGGGGGTTGGG	0.507													3	193					0	0	1	0	0	G	3324703	A	G	3324703	3	3	142	1	0	0	0	0	1	0	0	0	11039	72	3	3	844	3	OR3A3	17	3324703	Missense_Mutation	SNP	A	TCGA-E3-A3E2-01A-11D-A20C-08		3324703	77870507	8	2450											
GDPD1	284161	broad.mit.edu	37	chr17	57298002	57298002	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcggctttttaccttctctCtacgctaggaggatacttgg	10	10	2	0			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr17:57298002C>T	uc002ixk.2	+	0	175	c.32C>T	c.(31-33)tCt>tTt	p.S11F	GDPD1_uc002ixj.3_Missense_Mutation_p.S11F|GDPD1_uc021uas.1_Missense_Mutation_p.S11F	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 1 (GDPD1), transcript variant 1, mRNA.	11					glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TACCTTCTCTCTACGCTAGGA	0.532											OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	115					0	0	1	0	0	T	57298002	C	T	57298002	3	4	142	1	0	0	0	0	1	0	0	0	6323	913	32	2	34	2	GDPD1	17	57298002	Missense_Mutation	SNP	C	TCGA-E3-A3E2-01A-11D-A20C-08	53973299	57298002	23897208	9	2451											
DOT1L	84444	broad.mit.edu	37	chr19	2222329	2222329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcaccactggtgcggGcagtgccaagcagtcgccct	11	16	1	0			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr19:2222329G>A	uc002lvb.4	+	23	3197	c.3161G>A	c.(3160-3162)gGc>gAc	p.G1054D	DOT1L_uc002lvc.1_Missense_Mutation_p.G348D|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1054						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGGTGCGGGCAGTGCCAAG	0.667													3	47					0	0	1	0	0	A	2222329	G	A	2222329	3	1	142	1	0	0	0	0	1	0	0	0	4709	1203	42	2	3255	2	DOT1L	19	2222329	Missense_Mutation	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		2222329	56906654	10	2452											
CSMD2	114784	broad.mit.edu	37	chr1	34037304	34037304	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctccacgctgatgctActgacatcaggacaagtcac	8	14	2	2			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr1:34037304A>G	uc001bxm.1	-	50	7962	c.7785T>C	c.(7783-7785)agT>agC	p.S2595S	CSMD2_uc001bxn.1_Silent_p.S2597S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2597	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGCTGATGCTACTGACATCAG	0.473													18	45					0	0	1	0	0	G	34037304	A	G	34037304	2	3	143	1	0	0	0	0	0	0	0	1	3945	388	14	3		3	CSMD2	1	34037304	Silent	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08		34037304	215213317	1	2453											
SH2D6	284948	broad.mit.edu	37	chr2	85663670	85663670	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acagacacagcggcagccggGaactcacctgcctgctcttc	10	16	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr2:85663670G>C	uc002spq.3	+	3	654	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN	Homo sapiens SH2 domain containing 6 (SH2D6), mRNA.	165	SH2.									central_nervous_system(1)|lung(2)	3						CGGCAGCCGGGAACTCACCTG	0.647													14	61					0	0	1	0	0	C	85663670	G	C	85663670	3	2	143	1	0	0	0	0	1	0	0	0	14238	1175	41	4	507	4	SH2D6	2	85663670	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		85663670	157535703	2	2454											
STXBP5L	9515	broad.mit.edu	37	chr3	120941872	120941872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaccattcataatattctctGgtgggctgtcctatgacaaa	7	9	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr3:120941872G>C	uc003eec.4	+	10	1119	c.979G>C	c.(979-981)Ggt>Cgt	p.G327R	STXBP5L_uc011bji.2_Missense_Mutation_p.G327R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	327					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATATTCTCTGGTGGGCTGTC	0.363													7	84					0	0	1	0	0	C	120941872	G	C	120941872	3	2	143	1	0	0	0	0	1	0	0	0	15356	1348	47	4	1017	4	STXBP5L	3	120941872	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		120941872	77080558	3	2455											
NFXL1	152518	broad.mit.edu	37	chr4	47916171	47916171	+	Frame_Shift_Del	DEL	C	C	-													agggggcggcagtggcccgtCcccgggatcggcctcggcca							TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr4:47916171delC	uc010igh.3	-	1	227	c.50delG	c.(49-51)ggafs	p.G17fs	BC041434_uc003gxr.1_5'Flank|NFXL1_uc003gxp.3_Frame_Shift_Del_p.G17fs|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Frame_Shift_Del_p.G17fs	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	17						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTGGCCCGTCCCCGGGATCG	0.647													2	4	---	---	---	---						-	47916171	C	-	47916171	7	5	143	1	0	1	0	1	0	0	0	0	10388	855	30	0	2773	0	NFXL1	4	47916171	Frame_Shift_Del	DEL	C	TCGA-E3-A3E3-01A-11D-A20C-08		47916171	143238105	4	2456											
MCM9	254394	broad.mit.edu	37	chr6	119245206	119245206	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccagacttgttcgaaTcactgtcccagtgacagata	7	12	2	3			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr6:119245206T>A	uc021zeh.1	-	1	406	c.391A>T	c.(391-393)Att>Ttt	p.I131F	MCM9_uc003pyh.3_Missense_Mutation_p.I131F	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	131					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CTTGTTCGAATCACTGTCCCA	0.448													6	285					0	0	1	0	0	A	119245206	T	A	119245206	3	1	143	1	0	0	0	0	1	0	0	0	9394	1435	50	5	804	5	MCM9	6	119245206	Missense_Mutation	SNP	T	TCGA-E3-A3E3-01A-11D-A20C-08		119245206	51869861	5	2457											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	40					0	0	1	0	0	T	140453136	A	T	140453136	3	4	143	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08		140453136	18685527	6	2458											
NFATC4	4776	broad.mit.edu	37	chr14	24845682	24845682	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcttcggctatggcatgcccCctctgtacccccagacgggg	12	16	1	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr14:24845682C>G	uc010tol.2	+	9	2544	c.2428C>G	c.(2428-2430)Cct>Gct	p.P810A	NFATC4_uc010alr.3_Missense_Mutation_p.P810A|NFATC4_uc010tok.2_Missense_Mutation_p.P810A|NFATC4_uc010too.2_Missense_Mutation_p.P760A|NFATC4_uc010tom.2_Missense_Mutation_p.P760A|NFATC4_uc010ton.2_Missense_Mutation_p.P760A|NFATC4_uc010toq.2_Missense_Mutation_p.P779A|NFATC4_uc010alt.3_Missense_Mutation_p.P779A|NFATC4_uc010top.2_Missense_Mutation_p.P779A|NFATC4_uc001wpc.3_Missense_Mutation_p.P747A|NFATC4_uc010tor.2_Missense_Mutation_p.P747A|NFATC4_uc010tos.2_Missense_Mutation_p.P677A|NFATC4_uc010tot.2_Missense_Mutation_p.P735A|NFATC4_uc010tou.2_Missense_Mutation_p.P677A|NFATC4_uc010tov.2_Missense_Mutation_p.P735A|NFATC4_uc010tow.2_Missense_Mutation_p.P677A|NFATC4_uc010alv.3_Missense_Mutation_p.P735A|NFATC4_uc010tox.2_Missense_Mutation_p.P677A|NFATC4_uc001wpd.3_Missense_Mutation_p.P282A|NFATC4_uc010toy.2_Missense_Mutation_p.P282A|NFATC4_uc010toz.2_Missense_Mutation_p.P282A|NFATC4_uc010tpa.2_Missense_Mutation_p.P35A|NFATC4_uc010tpb.2_Missense_Mutation_p.P35A	NM_001198966	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA.	747	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGGCATGCCCCCTCTGTACCC	0.617													16	33					0	0	1	0	0	G	24845682	C	G	24845682	3	3	143	1	0	0	0	0	1	0	0	0	10365	623	22	4	2466	4	NFATC4	14	24845682	Missense_Mutation	SNP	C	TCGA-E3-A3E3-01A-11D-A20C-08		24845682	82503858	7	2459											
CHD2	1106	broad.mit.edu	37	chr15	93552546	93552547	+	Frame_Shift_Ins	INS	-	-	G													tcaggagcacatcaaactctINSggaggaggtaaccactttgg							TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr15:93552546_93552547insG	uc002bsp.3	+	34	5160_5161	c.4585_4586insG	c.(4585-4587)tggfs	p.W1529fs	CHD2_uc002bso.1_Frame_Shift_Ins_p.W1529fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1529					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CATCAAACTCTGGAGGAGGTAA	0.495													19	40	---	---	---	---						G	93552547	-	G	93552546	7	5	143	1	0	1	1	0	0	0	0	0	3325	1580	55	0	4723	0	CHD2	15	93552546	Frame_Shift_Ins	INS	-	TCGA-E3-A3E3-01A-11D-A20C-08		93552546	8978846	8	2460											
FBXO47	494188	broad.mit.edu	37	chr17	37101328	37101328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcacttcgatgtgtccaAtgatcaaggaggacattcct	9	9	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr17:37101328A>C	uc002hrc.2	-	6	878	c.678T>G	c.(676-678)caT>caG	p.H226Q		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	226										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GATGTGTCCAATGATCAAGGA	0.388													28	45					0	0	1	0	0	C	37101328	A	C	37101328	3	2	143	1	0	0	0	0	1	0	0	0	5756	98	4	5	700	5	FBXO47	17	37101328	Missense_Mutation	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08		37101328	44093882	9	2461											
COL5A3	50509	broad.mit.edu	37	chr19	10114384	10114384	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggggtttctggttcaccctGgggagcctgggagaagggtt	18	7	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr19:10114384G>C	uc002mmq.1	-	5	792	c.706C>G	c.(706-708)Cag>Gag	p.Q236E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	236	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.Q236L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGTTCACCCTGGGGAGCCTGG	0.607													4	42					0	0	1	0	0	C	10114384	G	C	10114384	3	2	143	1	0	0	0	0	1	0	0	0	3698	1357	47	4	4779	4	COL5A3	19	10114384	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		10114384	49014599	10	2462											
PHKA2	5256	broad.mit.edu	37	chrX	18969292	18969292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggtggccccactgGtcgtcgcccaccaccgtgcc	12	18	0	0			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:18969292G>T	uc004cyv.4	-	3	814	c.384C>A	c.(382-384)gaC>gaA	p.D128E	PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Missense_Mutation_p.D70E	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	128					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGCCCCACTGGTCGTCGCCCA	0.607													5	83					0	0	1	0	0	T	18969292	G	T	18969292	3	4	143	1	0	0	0	0	1	0	0	0	11844	1252	44	4	3443	4	PHKA2	23	18969292	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		18969292	136301268	11	2463											
KDM6A	7403	broad.mit.edu	37	chrX	44929202	44929202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctagccatggagattctAagtcaccaggtttactaagt	9	9	2	1			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:44929202A>G	uc011mkz.2	+	17	2833	c.2458A>G	c.(2458-2460)Aag>Gag	p.K820E	KDM6A_uc022bvi.1_Missense_Mutation_p.K438E|KDM6A_uc010nhk.2_Missense_Mutation_p.K734E|KDM6A_uc004dge.4_Missense_Mutation_p.K768E|KDM6A_uc011mla.2_Missense_Mutation_p.K723E|KDM6A_uc011mlb.2_Missense_Mutation_p.K775E|KDM6A_uc011mlc.2_Missense_Mutation_p.K472E|KDM6A_uc022bvj.1_Missense_Mutation_p.K689E|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.K407E	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	768					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGGAGATTCTAAGTCACCAGG	0.473			"D, N, F, S"		"renal, oesophageal SCC, MM"								26	21					0	0	1	0	0	G	44929202	A	G	44929202	3	3	143	1	0	0	0	0	1	0	0	0	8137	363	13	3	2368	3	KDM6A	23	44929202	Missense_Mutation	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08	25959910	44929202	110341358	12	2464											
FOXR2	139628	broad.mit.edu	37	chrX	55650462	55650462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaagaggatctgacaaaCatttctcctttccctcagcc	7	12	3	2			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:55650462C>T	uc004duo.3	+	0	630	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	106					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCTGACAAACATTTCTCCTT	0.542													9	13					0	0	1	0	0	T	55650462	C	T	55650462	2	4	143	1	0	0	0	0	0	0	0	1	6032	477	17	2		2	FOXR2	23	55650462	Silent	SNP	C	TCGA-E3-A3E3-01A-11D-A20C-08	10721260	55650462	99620098	13	2465											
LAMC2	3918	broad.mit.edu	37	chr1	183208652	183208652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgcacagagggcaaAgaatggggccggggaggccc	18	9	0	3			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:183208652A>G	uc001gqa.2	+	19	3337	c.3023A>G	c.(3022-3024)aAg>aGg	p.K1008R	LAMC2_uc001gpz.4_Missense_Mutation_p.K1008R|LAMC2_uc010poa.2_Missense_Mutation_p.K708R	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	1008	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGAGGGCAAAGAATGGGGCC	0.542													43	77					0	0	1	0	0	G	183208652	A	G	183208652	3	3	144	1	0	0	0	0	1	0	0	0	8615	72	3	3	3101	3	LAMC2	1	183208652	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08		183208652	66041969	1	2466											
CFH	3075	broad.mit.edu	37	chr1	196883707	196883707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgacacattggactaCgaatgctacgatggatatga	9	9	0	2			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:196883707C>T	uc001gtp.3	+	7	1400	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.Y420Y|CFH_uc001gto.3_Silent_p.Y174Y	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	779	Sushi 7.				complement activation, alternative pathway	extracellular space		p.Y420Y(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CATTGGACTACGAATGCTACG	0.393													5	107					0	0	1	0	0	T	196883707	C	T	196883707	2	4	144	1	0	0	0	0	0	0	0	1	3283	547	19	1		1	CFH	1	196883707	Silent	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	13675055	196883707	52366914	2	2467											
HEATR5B	54497	broad.mit.edu	37	chr2	37227778	37227778	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgctacgaatcagagcTgtccactgtttttgaacgcc	10	11	1	2			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:37227778T>C	uc002rpp.1	-	32	5592	c.5496A>G	c.(5494-5496)acA>acG	p.T1832T	HEATR5B_uc010ezy.1_Silent_p.T327T	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1832							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAATCAGAGCTGTCCACTGTT	0.428													53	98					0	0	1	0	0	C	37227778	T	C	37227778	2	2	144	1	0	0	0	0	0	0	0	1	7032	1567	55	3		3	HEATR5B	2	37227778	Silent	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		37227778	205971595	3	2468											
HDLBP	3069	broad.mit.edu	37	chr2	242179484	242179484	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccgccccccttgccgatgagGaatttgtggtattctggctt	11	12	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:242179484G>C	uc002wba.3	-	17	2456	c.2223C>G	c.(2221-2223)ttC>ttG	p.F741L	HDLBP_uc002waz.3_Missense_Mutation_p.F741L|HDLBP_uc021vzg.1_Missense_Mutation_p.F708L	NM_005336	NP_005327	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 1, mRNA.	741	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGCCGATGAGGAATTTGTGGT	0.557													64	95					0	0	1	0	0	C	242179484	G	C	242179484	3	2	144	1	0	0	0	0	1	0	0	0	7025	1165	41	4	1627	4	HDLBP	2	242179484	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08	204951706	242179484	1019889	4	2469											
XYLB	9942	broad.mit.edu	37	chr3	38420767	38420767	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctggggatgtggaggttCgagcactaattgaaggacaa	14	7	0	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:38420767C>T	uc003cic.2	+	14	1334	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	XYLB_uc011ayp.1_Nonsense_Mutation_p.R272*|XYLB_uc003cid.1_Nonsense_Mutation_p.R331*	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	409					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TGTGGAGGTTCGAGCACTAAT	0.527													65	67					0	0	1	0	0	T	38420767	C	T	38420767	4	4	144	1	0	0	0	0	0	1	0	0	17459	876	31	1	1283	1	XYLB	3	38420767	Nonsense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		38420767	159601663	5	2470											
CTNNB1	1499	broad.mit.edu	37	chr3	41280634	41280634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcttctagatcctagctAtcgttcttttcactctggtg	7	11	5	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:41280634A>G	uc010hia.1	+	15	2303	c.2147A>G	c.(2146-2148)tAt>tGt	p.Y716C	CTNNB1_uc003ckq.2_Missense_Mutation_p.Y716C|CTNNB1_uc003ckp.2_Missense_Mutation_p.Y716C|CTNNB1_uc003ckr.2_Missense_Mutation_p.Y716C|CTNNB1_uc011azf.1_Missense_Mutation_p.Y709C|CTNNB1_uc011azg.1_Missense_Mutation_p.Y644C	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	716					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GATCCTAGCTATCGTTCTTTT	0.493		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				4	105					0	0	1	0	0	G	41280634	A	G	41280634	3	3	144	1	0	0	0	0	1	0	0	0	4016	449	16	3	2201	3	CTNNB1	3	41280634	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	2859867	41280634	156741796	6	2471											
MEP1A	4224	broad.mit.edu	37	chr6	46766859	46766859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaaatccagaaatggccTgagagacccaaacaccaggt	9	11	0	4			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:46766859T>C	uc011dwh.1	+	3	295	c.287T>C	c.(286-288)cTg>cCg	p.L96P	MEP1A_uc010jzh.1_Missense_Mutation_p.L68P|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	68	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAAATGGCCTGAGAGACCCA	0.428													3	126					0	0	1	0	0	C	46766859	T	C	46766859	3	2	144	1	0	0	0	0	1	0	0	0	9475	1580	55	3	221	3	MEP1A	6	46766859	Missense_Mutation	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		46766859	124348208	7	2472											
ASCC3	10973	broad.mit.edu	37	chr6	101253689	101253689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattaagaaatctatccacaAttgtaattctgttctggagg	7	6	3	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:101253689A>G	uc003pqk.3	-	4	1198	c.869T>C	c.(868-870)aTt>aCt	p.I290T	ASCC3_uc011eai.1_Missense_Mutation_p.I192T|ASCC3_uc003pql.3_Missense_Mutation_p.I290T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCTATCCACAATTGTAATTCT	0.328													21	20					0	0	1	0	0	G	101253689	A	G	101253689	3	3	144	1	0	0	0	0	1	0	0	0	1033	101	4	3	5891	3	ASCC3	6	101253689	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	54486830	101253689	69861378	8	2473											
DYNC1I1	1780	broad.mit.edu	37	chr7	95664979	95664979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcctgtcgctgttaccGgaatggctttcccaacggga	11	13	0	0			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:95664979G>A	uc003uoc.4	+	12	1607	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	DYNC1I1_uc003uod.4_Missense_Mutation_p.G427R|DYNC1I1_uc003uob.3_Missense_Mutation_p.G407R|DYNC1I1_uc003uoe.4_Missense_Mutation_p.G424R|DYNC1I1_uc010lfl.3_Missense_Mutation_p.G433R	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	444					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGCTGTTACCGGAATGGCTTT	0.493													4	181					0	0	1	0	0	A	95664979	G	A	95664979	3	1	144	1	0	0	0	0	1	0	0	0	4842	1117	39	1	1376	1	DYNC1I1	7	95664979	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08		95664979	63473684	9	2474											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				42	60					0	0	1	0	0	T	140453136	A	T	140453136	3	4	144	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	44788157	140453136	18685527	10	2475											
TEX15	56154	broad.mit.edu	37	chr8	30695491	30695491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctttgcatttcaaccTtttttggcgttaaatgattt	7	6	2	2			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:30695491T>C	uc003xil.3	-	2	7160	c.7160A>G	c.(7159-7161)aAg>aGg	p.K2387R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2387										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388													3	157					0	0	1	0	0	C	30695491	T	C	30695491	3	2	144	1	0	0	0	0	1	0	0	0	15776	1609	56	3	1217	3	TEX15	8	30695491	Missense_Mutation	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		30695491	115668531	11	2476											
MMP16	4325	broad.mit.edu	37	chr8	89053760	89053760	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcctcttgaactggaAcacagtgtaaaccaatacaa	5	11	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:89053760A>T	uc003yeb.4	-	9	2035	c.1753T>A	c.(1753-1755)Ttc>Atc	p.F585I		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	585					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTGAACTGGAACACAGTGTAA	0.443													4	119					0	0	1	0	0	T	89053760	A	T	89053760	3	4	144	1	0	0	0	0	1	0	0	0	9655	43	2	5	74	5	MMP16	8	89053760	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	58358269	89053760	57310262	12	2477											
TEK	7010	broad.mit.edu	37	chr9	27192585	27192585	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gagagggtggggaagggcatCctggacctgtgagacgcttc	18	8	0	2			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:27192585C>G	uc003zqi.4	+	10	2030	c.1588C>G	c.(1588-1590)Cct>Gct	p.P530A	TEK_uc011lno.2_Missense_Mutation_p.P487A|TEK_uc011lnp.2_Missense_Mutation_p.P383A|TEK_uc003zqj.1_Missense_Mutation_p.P464A	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	530	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGAAGGGCATCCTGGACCTGT	0.517													4	113					0	0	1	0	0	G	27192585	C	G	27192585	3	3	144	1	0	0	0	0	1	0	0	0	15748	855	30	4	1630	4	TEK	9	27192585	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		27192585	114020846	13	2478											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112705452	112705452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagaggagacgaaaaAggtgctaggctatgatgaaa	15	3	0	5			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:112705452A>G	uc004bei.2	+	6	1175	c.983A>G	c.(982-984)aAg>aGg	p.K328R	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.K296R|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.K328R|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAGACGAAAAAGGTGCTAGGC	0.498													3	113					0	0	1	0	0	G	112705452	A	G	112705452	3	3	144	1	0	0	0	0	1	0	0	0	11410	72	3	3		3	PALM2-AKAP2	9	112705452	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	85512867	112705452	28507979	14	2479											
GAPVD1	26130	broad.mit.edu	37	chr9	128099547	128099547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcactatgctaggccatcgCatccaccaccagatccccca	5	18	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:128099547C>T	uc004bpp.3	+	15	2795	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y	GAPVD1_uc011lzs.1_Missense_Mutation_p.H852Y|GAPVD1_uc004bpq.3_Missense_Mutation_p.H852Y|GAPVD1_uc010mwx.3_Missense_Mutation_p.H852Y|GAPVD1_uc004bpr.3_Missense_Mutation_p.H831Y|GAPVD1_uc004bps.3_Missense_Mutation_p.H852Y|GAPVD1_uc010mwy.1_Missense_Mutation_p.H685Y	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	852					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.S878S(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAGGCCATCGCATCCACCACC	0.478													22	37					0	0	1	0	0	T	128099547	C	T	128099547	3	4	144	1	0	0	0	0	1	0	0	0	6239	710	25	2	2693	2	GAPVD1	9	128099547	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	15394095	128099547	13113884	15	2480											
EIF3F	8665	broad.mit.edu	37	chr11	8015971	8015971	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actttggcttctccttccgcAgcactttaatgggagtccct	8	13	1	0			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:8015971A>T	uc001mfw.3	+	5	1109	c.654_splice	c.e5-2	p.S218_splice	EIF3F_uc010rbj.2_Splice_Site_p.S69_splice	NM_003754	NP_003745	O00303	EIF3F_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA.	218						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCTTCCGCAGCACTTTAAT	0.512													7	26					0	0	1	0	0	T	8015971	A	T	8015971	5	4	144	1	0	0	0	0	0	0	1	0	5016	202	7	5	670	5	EIF3F	11	8015971	Splice_Site	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08		8015971	126990545	16	2481											
LDHA	3939	broad.mit.edu	37	chr11	18421059	18421059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggatctccaacatggcagcCttttccttagaacaccaaag	7	12	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:18421059C>G	uc010rdd.2	+	2	577	c.295C>G	c.(295-297)Ctt>Gtt	p.L99V	LDHA_uc001mok.3_Missense_Mutation_p.L70V|LDHA_uc009yho.2_Intron|LDHA_uc001mol.3_Missense_Mutation_p.L70V|LDHA_uc010rdc.1_Missense_Mutation_p.L70V|LDHA_uc021qep.1_Missense_Mutation_p.L70V	NM_001165414	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 3, mRNA.	70					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	ACATGGCAGCCTTTTCCTTAG	0.378													52	79					0	0	1	0	0	G	18421059	C	G	18421059	3	3	144	1	0	0	0	0	1	0	0	0	8698	681	24	4	305	4	LDHA	11	18421059	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	10405088	18421059	116585457	17	2482											
TLN2	83660	broad.mit.edu	37	chr15	63069044	63069044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcatggtgacgctgaacGaagctgccagtgaagtgggg	15	8	1	3			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr15:63069044G>A	uc002alb.4	+	39	5449	c.5449G>A	c.(5449-5451)Gaa>Aaa	p.E1817K	TLN2_uc002alc.4_Missense_Mutation_p.E210K|TLN2_uc002ald.3_Missense_Mutation_p.E210K	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1817					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GACGCTGAACGAAGCTGCCAG	0.567													3	84					0	0	1	0	0	A	63069044	G	A	63069044	3	1	144	1	0	0	0	0	1	0	0	0	15945	1059	37	1	5607	1	TLN2	15	63069044	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08		63069044	39462348	18	2483											
TCAP	8557	broad.mit.edu	37	chr17	37822184	37822184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggaggagcgtgaggacaCccccatccagcttcaggagc	13	13	1	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:37822184C>T	uc002hsh.3	+	1	340	c.326C>T	c.(325-327)aCc>aTc	p.T109I	PNMT_uc002hsi.1_5'Flank	NM_003673	NP_003664	O15273	TELT_HUMAN	Homo sapiens titin-cap (telethonin) (TCAP), mRNA.	109					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	Z disc|cytosol	structural constituent of muscle|titin Z domain binding|titin binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTGAGGACACCCCCATCCAG	0.662													17	15					0	0	1	0	0	T	37822184	C	T	37822184	3	4	144	1	0	0	0	0	1	0	0	0	15663	507	18	2	332	2	TCAP	17	37822184	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		37822184	43373026	19	2484											
DNAH17	8632	broad.mit.edu	37	chr17	76464923	76464923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaggaacaccgagggaaCgttcttcacggcagccttta	10	12	3	0			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:76464923C>T	uc010dhp.2	-	54	8679	c.8554G>A	c.(8554-8556)Gtt>Att	p.V2852I	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCGAGGGAACGTTCTTCACG	0.542													3	77					0	0	1	0	0	T	76464923	C	T	76464923	3	4	144	1	0	0	0	0	1	0	0	0	4601	536	19	1	4942	1	DNAH17	17	76464923	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	38642739	76464923	4730287	20	2485											
ANKRD30B	374860	broad.mit.edu	37	chr18	14850291	14850291	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attagacccgaagagcaactTaggaaaaagttagaagtgaa	10	5	0	4			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr18:14850291T>C	uc010dlo.2	+	34	3297	c.3117T>C	c.(3115-3117)ctT>ctC	p.L1039L	ANKRD30B_uc021uhy.1_Silent_p.L1039L|ANKRD30B_uc010xal.1_Silent_p.L181L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1124										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAGCAACTTAGGAAAAAGT	0.294													13	13					0	0	1	0	0	C	14850291	T	C	14850291	2	2	144	1	0	0	0	0	0	0	0	1	659	1741	61	3		3	ANKRD30B	18	14850291	Silent	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		14850291	63226957	21	2486											
OAZ1	4946	broad.mit.edu	37	chr19	2272779	2272779	+	Frame_Shift_Del	DEL	C	C	-													gaggagcagctgcgagccgaCcatgtcttcatttgcttcca							TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:2272779delC	uc002lvk.3	+	4	588	c.510delC	c.(508-510)gacfs	p.D170fs	OAZ1_uc002lvl.3_Non-coding_Transcript|SPPL2B_uc010dsw.1_Intron	NM_004152	NP_004143	P54368	OAZ1_HUMAN	Homo sapiens ornithine decarboxylase antizyme 1 (OAZ1), mRNA.	170					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	TGCGAGCCGACCATGTCTTCA	0.632													2	4	---	---	---	---						-	2272779	C	-	2272779	7	5	144	1	0	1	0	1	0	0	0	0	10804	506	18	0	525	0	OAZ1	19	2272779	Frame_Shift_Del	DEL	C	TCGA-E3-A3E5-01A-11D-A20C-08		2272779	56856204	22	2487											
TMEM160	54958	broad.mit.edu	37	chr19	47549926	47549926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgccaggaggccattgcGgaaccaggagaggaaggctg	17	9	0	1			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:47549926G>A	uc002pfz.3	-	1	236	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C		NM_017854	NP_060324	Q9NX00	TM160_HUMAN	Homo sapiens transmembrane protein 160 (TMEM160), mRNA.	76						integral to membrane				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		AGGCCATTGCGGAACCAGGAG	0.612													4	186					0	0	1	0	0	A	47549926	G	A	47549926	3	1	144	1	0	0	0	0	1	0	0	0	16072	1116	39	1	348	1	TMEM160	19	47549926	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08	45277147	47549926	11579057	23	2488											
PTPRT	11122	broad.mit.edu	37	chr20	40739081	40739081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacgccgtggtcaggccagCtggtgaagtggaagaggcgg	19	8	1	2			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr20:40739081C>A	uc010ggj.3	-	23	3387	c.3203G>T	c.(3202-3204)aGc>aTc	p.S1068I	PTPRT_uc002xkg.3_Missense_Mutation_p.S1049I|PTPRT_uc010ggi.3_Missense_Mutation_p.S252I	NM_133170	NP_573400	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 1, mRNA.	1049	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCAGGCCAGCTGGTGAAGTG	0.622													3	67					0	0	1	0	0	A	40739081	C	A	40739081	3	1	144	1	0	0	0	0	1	0	0	0	12812	797	28	4	1215	4	PTPRT	20	40739081	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		40739081	22286439	24	2489											
DOK1	1796	broad.mit.edu	37	chr2	74784179	74784179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggggcctcagggagctggGactgtgggctctctagagta	18	9	2	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:74784179G>A	uc002sms.3	+	4	1754	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	DOK1_uc002smr.3_Missense_Mutation_p.D323N|DOK1_uc010ffo.3_Missense_Mutation_p.D323N|DOK1_uc002smt.3_Missense_Mutation_p.D248N|DOK1_uc002smu.3_Missense_Mutation_p.D248N|DOK1_uc010yrz.2_Missense_Mutation_p.D451N|DOK1_uc002smw.1_Missense_Mutation_p.D248N	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	462					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGGAGCTGGGACTGTGGGCT	0.592													6	64					0	0	1	0	0	A	74784179	G	A	74784179	3	1	145	1	0	0	0	0	1	0	0	0	4696	1174	41	2	1402	2	DOK1	2	74784179	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		74784179	168415194	1	2490											
KDM3A	55818	broad.mit.edu	37	chr2	86705781	86705781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagagcgaaatggggaAtaaaggcaaactgcccttgt	12	7	0	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:86705781A>G	uc002sri.4	+	14	2566	c.2239A>G	c.(2239-2241)Ata>Gta	p.I747V	KDM3A_uc010ytj.2_Missense_Mutation_p.I747V|KDM3A_uc010ytk.2_Missense_Mutation_p.I695V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	747					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAATGGGGAATAAAGGCAAA	0.388													11	80					0	0	1	0	0	G	86705781	A	G	86705781	3	3	145	1	0	0	0	0	1	0	0	0	8126	101	4	3	2293	3	KDM3A	2	86705781	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08	11921602	86705781	156493592	2	2491											
GPR45	11250	broad.mit.edu	37	chr2	105859029	105859029	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtcggacagcctggacctGcggcagctcaccagggcggg	16	14	1	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:105859029G>C	uc002tco.1	+	0	830	c.714G>C	c.(712-714)ctG>ctC	p.L238L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	238						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCCTGGACCTGCGGCAGCTCA	0.647													3	80					0	0	1	0	0	C	105859029	G	C	105859029	2	2	145	1	0	0	0	0	0	0	0	1	6696	1306	46	4		4	GPR45	2	105859029	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	19153248	105859029	137340344	3	2492											
SP140L	93349	broad.mit.edu	37	chr2	231264857	231264857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctagatgagaaacttggatGagtgtgaggtgtgccgggac	16	5	1	4			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:231264857G>A	uc010fxm.1	+	14	1304	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	SP140L_uc010fxo.1_Missense_Mutation_p.E177K	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	405						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAACTTGGATGAGTGTGAGGT	0.512													21	80					0	0	1	0	0	A	231264857	G	A	231264857	3	1	145	1	0	0	0	0	1	0	0	0	14963	1291	45	2	1271	2	SP140L	2	231264857	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	125405828	231264857	11934516	4	2493											
RGS12	6002	broad.mit.edu	37	chr4	3430427	3430427	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atatcagaaaattaatttggAcgaagcagagggtatgtgaa	11	3	1	3			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:3430427A>T	uc003ggw.3	+	15	4458	c.3554A>T	c.(3553-3555)gAc>gTc	p.D1185V	RGS12_uc003ggv.3_Missense_Mutation_p.D1185V|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.3_Missense_Mutation_p.D537V|RGS12_uc011bvs.2_Intron|RGS12_uc003gha.3_Missense_Mutation_p.D527V|RGS12_uc010icv.3_Missense_Mutation_p.D384V	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1185						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTAATTTGGACGAAGCAGAG	0.358													3	65					0	0	1	0	0	T	3430427	A	T	3430427	3	4	145	1	0	0	0	0	1	0	0	0	13295	275	10	5	3670	5	RGS12	4	3430427	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		3430427	187723849	5	2494											
C4orf40	401137	broad.mit.edu	37	chr4	71024450	71024450	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcagctgagcctgctgcaGaggcacctgttggagctgag	15	10	0	3			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:71024450G>A	uc003hfa.4	+	3	554	c.481G>A	c.(481-483)Gag>Aag	p.E161K	C4orf40_uc003hfb.4_Missense_Mutation_p.E161K	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	161	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCTGCAGAGGCACCTGT	0.622													5	66					0	0	1	0	0	A	71024450	G	A	71024450	3	1	145	1	0	0	0	0	1	0	0	0	2269	943	33	2	491	2	C4orf40	4	71024450	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	67594023	71024450	120129826	6	2495											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	55					0	0	1	0	0	T	140453136	A	T	140453136	3	4	145	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		140453136	18685527	7	2496											
ENPP2	5168	broad.mit.edu	37	chr8	120575112	120575112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcacattgcagctctcctcGttgtcaggccggtgaggcag	12	13	3	1	rs61740048	byFrequency	TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr8:120575112G>T	uc003yos.2	-	24	2648	c.2562C>A	c.(2560-2562)aaC>aaA	p.N854K	ENPP2_uc011lic.2_Missense_Mutation_p.N340K|ENPP2_uc003yor.2_Missense_Mutation_p.N437K|ENPP2_uc010mdd.2_Missense_Mutation_p.N827K|ENPP2_uc003yot.2_Missense_Mutation_p.N802K	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	802					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.N854N(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGCTCTCCTCGTTGTCAGGCC	0.478													8	74					0	0	1	0	0	T	120575112	G	T	120575112	3	4	145	1	0	0	0	0	1	0	0	0	5130	1136	40	4	193	4	ENPP2	8	120575112	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		120575112	25788910	8	2497											
VCL	7414	broad.mit.edu	37	chr10	75868775	75868775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacctctgcctgaaggtgAggtccctccacctaggcctc	9	17	1	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr10:75868775A>G	uc001jwd.3	+	17	2700	c.2606A>G	c.(2605-2607)gAg>gGg	p.E869G	VCL_uc009xrr.3_Missense_Mutation_p.E618G|VCL_uc010qky.1_Missense_Mutation_p.E776G|VCL_uc001jwe.3_Missense_Mutation_p.E869G|VCL_uc010qkz.2_Splice_Site_p.V131_splice	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	869	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCTGAAGGTGAGGTCCCTCCA	0.512													3	94					0	0	1	0	0	G	75868775	A	G	75868775	3	3	145	1	0	0	0	0	1	0	0	0	17136	304	11	3	2676	3	VCL	10	75868775	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		75868775	59665972	9	2498											
TAF6L	10629	broad.mit.edu	37	chr11	62546414	62546414	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgactcgtgctgtgctaggGgatgatccgcaactgatgaa	14	8	0	4			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:62546414G>C	uc001nvc.3	+	5	711	c.510G>C	c.(508-510)ggG>ggC	p.G170G	TAF6L_uc009yof.3_Silent_p.G170G	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	170					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGTGCTAGGGGATGATCCGC	0.483													3	124					0	0	1	0	0	C	62546414	G	C	62546414	2	2	145	1	0	0	0	0	0	0	0	1	15528	1219	43	4		4	TAF6L	11	62546414	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		62546414	72460102	10	2499											
KBTBD3	143879	broad.mit.edu	37	chr11	105924439	105924439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatcaatcaggtgtgatTgcggcagtattttccatgaa	10	7	2	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:105924439T>C	uc001pja.3	-	3	1617	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	KBTBD3_uc001pjb.3_Missense_Mutation_p.Q326R|KBTBD3_uc009yxm.3_Missense_Mutation_p.Q247R	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	322								p.P325S(2)|p.P325P(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CAGGTGTGATTGCGGCAGTAT	0.363													14	79					0	0	1	0	0	C	105924439	T	C	105924439	3	2	145	1	0	0	0	0	1	0	0	0	7994	1812	63	3	865	3	KBTBD3	11	105924439	Missense_Mutation	SNP	T	TCGA-E8-A242-01A-21D-A16O-08	43378025	105924439	29082077	11	2500											
ADAMTS8	11095	broad.mit.edu	37	chr11	130286920	130286920	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggggtcacaaatggtcccGatgtctgccacacccagggt	12	12	2	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:130286920G>A	uc001qgg.4	-	2	1369	c.1011C>T	c.(1009-1011)atC>atT	p.I337I		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	337	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AAATGGTCCCGATGTCTGCCA	0.597													4	120					0	0	1	0	0	A	130286920	G	A	130286920	2	1	145	1	0	0	0	0	0	0	0	1	272	1048	37	1		1	ADAMTS8	11	130286920	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	24362481	130286920	4719596	12	2501											
OVCH1	341350	broad.mit.edu	37	chr12	29607866	29607866	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctgaagtgaagcaggaCctgtatttggggagaacatg	14	5	1	3			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:29607866C>A	uc001rix.1	-	21	2438	c.2438_splice	c.e21-1	p.G813_splice		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	813					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGAAGCAGGACCTGTATTTGG	0.378													3	24					0	0	1	0	0	A	29607866	C	A	29607866	5	1	145	1	0	0	0	0	0	0	1	0	11323	521	18	4	998	4	OVCH1	12	29607866	Splice_Site	SNP	C	TCGA-E8-A242-01A-21D-A16O-08		29607866	104244029	13	2502											
PRDM4	11108	broad.mit.edu	37	chr12	108134795	108134795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacagaaatcacacttgtGgggcttcatacccatgtgac	9	11	2	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:108134795G>A	uc001tmp.3	-	9	2289	c.1852C>T	c.(1852-1854)Cac>Tac	p.H618Y	PRDM4_uc001tmq.3_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	618					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCACACTTGTGGGGCTTCATA	0.473													4	167					0	0	1	0	0	A	108134795	G	A	108134795	3	1	145	1	0	0	0	0	1	0	0	0	12459	1348	47	2	565	2	PRDM4	12	108134795	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	78526929	108134795	25717100	14	2503											
NALCN	259232	broad.mit.edu	37	chr13	101795522	101795522	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgggaggcttctcaggaggCaacatgtgtcctgttgctgg	15	9	1	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr13:101795522C>G	uc001vox.1	-	16	2216	c.2027G>C	c.(2026-2028)tGc>tCc	p.C676S	NALCN_uc001voy.3_Missense_Mutation_p.C391S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	676						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCAGGAGGCAACATGTGTC	0.468													8	96					0	0	1	0	0	G	101795522	C	G	101795522	3	3	145	1	0	0	0	0	1	0	0	0	10148	710	25	4	3301	4	NALCN	13	101795522	Missense_Mutation	SNP	C	TCGA-E8-A242-01A-21D-A16O-08		101795522	13374356	15	2504											
HEATR5A	25938	broad.mit.edu	37	chr14	31765218	31765218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagacaaaataaacactGtgatagcagtaagtagactg	10	5	0	3			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr14:31765218G>A	uc001wrf.4	-	33	5701	c.5516C>T	c.(5515-5517)aCa>aTa	p.T1839I	HEATR5A_uc010ami.3_Missense_Mutation_p.T1369I	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1833							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATAAACACTGTGATAGCAGT	0.348													16	88					0	0	1	0	0	A	31765218	G	A	31765218	3	1	145	1	0	0	0	0	1	0	0	0	7031	1377	48	2	636	2	HEATR5A	14	31765218	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		31765218	75584322	16	2505											
DNAH9	1770	broad.mit.edu	37	chr17	11726231	11726231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaactatacaactcccaaGtcctttctggagttcatcag	5	12	3	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:11726231G>T	uc002gne.3	+	47	9194	c.9126G>T	c.(9124-9126)aaG>aaT	p.K3042N	DNAH9_uc010coo.3_Missense_Mutation_p.K2336N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3042					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P3041H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAACTCCCAAGTCCTTTCTGG	0.478													5	91					0	0	1	0	0	T	11726231	G	T	11726231	3	4	145	1	0	0	0	0	1	0	0	0	4608	1020	36	4	9316	4	DNAH9	17	11726231	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		11726231	69468979	17	2506											
DDX5	1655	broad.mit.edu	37	chr17	62496218	62496218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattaccagtcctaaaactGgtctgtataccagcagacac	8	11	1	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:62496218G>A	uc010deh.2	-	12	1711	c.1668C>T	c.(1666-1668)acC>acT	p.T556T	DDX5_uc002jek.2_Silent_p.T556T|DDX5_uc002jej.2_Silent_p.T451T|DDX5_uc010wqa.1_Silent_p.T477T	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	556					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCTAAAACTGGTCTGTATAC	0.403			T	ETV4	prostate								4	94					0	0	1	0	0	A	62496218	G	A	62496218	2	1	145	1	0	0	0	0	0	0	0	1	4367	1335	47	2		2	DDX5	17	62496218	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	50769987	62496218	18698992	18	2507											
ALPK2	115701	broad.mit.edu	37	chr18	56149135	56149135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaactttgcttttcccaaTgctcggctgcttctgtttct	7	11	2	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr18:56149135T>C	uc002lhj.4	-	12	6647	c.6433A>G	c.(6433-6435)Att>Gtt	p.I2145V		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2145							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTTCCCAATGCTCGGCTGC	0.433													5	95					0	0	1	0	0	C	56149135	T	C	56149135	3	2	145	1	0	0	0	0	1	0	0	0	545	1464	51	3	83	3	ALPK2	18	56149135	Missense_Mutation	SNP	T	TCGA-E8-A242-01A-21D-A16O-08		56149135	21928113	19	2508											
EPS15L1	58513	broad.mit.edu	37	chr19	16496012	16496012	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttccgaagggatctaaggtTccaaagggatctgcaatcgg	12	9	2	0			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:16496012T>A	uc002ndx.3	-	20	2181	c.2175A>T	c.(2173-2175)ggA>ggT	p.G725G	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Silent_p.G615G|EPS15L1_uc002ndz.1_Silent_p.G725G|EPS15L1_uc010xpf.1_Silent_p.G628G|EPS15L1_uc002nea.1_Silent_p.G725G|EPS15L1_uc010eah.1_Silent_p.G727G	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	725	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GATCTAAGGTTCCAAAGGGAT	0.542													5	129					0	0	1	0	0	A	16496012	T	A	16496012	2	1	145	1	0	0	0	0	0	0	0	1	5193	1770	62	5		5	EPS15L1	19	16496012	Silent	SNP	T	TCGA-E8-A242-01A-21D-A16O-08		16496012	42632971	20	2509											
ZNF234	10780	broad.mit.edu	37	chr19	44662001	44662001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtcaggcctcaagtcTccaacttcatcagagtgtcc	7	14	6	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:44662001T>C	uc002oym.3	+	5	2139	c.1832T>C	c.(1831-1833)cTc>cCc	p.L611P	ZNF234_uc002oyl.4_Missense_Mutation_p.L611P	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GCCTCAAGTCTCCAACTTCAT	0.463													3	124					0	0	1	0	0	C	44662001	T	C	44662001	3	2	145	1	0	0	0	0	1	0	0	0	17784	1551	54	3	1846	3	ZNF234	19	44662001	Missense_Mutation	SNP	T	TCGA-E8-A242-01A-21D-A16O-08	28165989	44662001	14466982	21	2510											
SPANXN5	494197	broad.mit.edu	37	chrX	52825587	52825587	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagtcttcctgtagcacaAcactaatactgttgaatatt	5	9	1	1			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:52825587A>G	uc004drc.1	-	1	160	c.160T>C	c.(160-162)Ttg>Ctg	p.L54L		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	54										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CTGTAGCACAACACTAATACT	0.418													4	150					0	0	1	0	0	G	52825587	A	G	52825587	2	3	145	1	0	0	0	0	0	0	0	1	14993	40	2	3		3	SPANXN5	23	52825587	Silent	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		52825587	102444973	22	2511											
HMGB3	3149	broad.mit.edu	37	chrX	150155679	150155679	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctctattggagacgtGgcaaaaaagctgggtgagat	14	6	1	2			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:150155679G>C	uc004fep.3	+	3	461	c.369G>C	c.(367-369)gtG>gtC	p.V123V	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.V123V	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	123					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGAGACGTGGCAAAAAAGC	0.428													4	54					0	0	1	0	0	C	150155679	G	C	150155679	2	2	145	1	0	0	0	0	0	0	0	1	7227	1335	47	4		4	HMGB3	23	150155679	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	97330092	150155679	5114881	23	2512											
FBXO42	54455	broad.mit.edu	37	chr1	16577866	16577866	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctggtagtgatcctcgtcGgggggccaaagaaagtccta	13	9	1	2			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:16577866G>C	uc001ayg.3	-	9	1669	c.1453C>G	c.(1453-1455)Cga>Gga	p.R485G	FBXO42_uc001ayf.3_Missense_Mutation_p.R392G	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GATCCTCGTCGGGGGGCCAAA	0.483													4	71					0	0	1	0	0	C	16577866	G	C	16577866	3	2	146	1	0	0	0	0	1	0	0	0	5751	1124	39	4	704	4	FBXO42	1	16577866	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		16577866	232672755	1	2513											
DENND2D	79961	broad.mit.edu	37	chr1	111741363	111741363	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccccgaagcaggttctccCgctataaggcaaaggaaaag	11	11	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:111741363C>G	uc001eak.1	-	3	444	c.244_splice	c.e3-1	p.R82_splice	DENND2D_uc001eal.1_Splice_Site_p.R79_splice	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	82	UDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CAGGTTCTCCCGCTATAAGGC	0.552													3	38					0	0	1	0	0	G	111741363	C	G	111741363	5	3	146	1	0	0	0	0	0	0	1	0	4431	666	23	4	1210	4	DENND2D	1	111741363	Splice_Site	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	95163497	111741363	137509258	2	2514											
C1orf110	339512	broad.mit.edu	37	chr1	162824952	162824952	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaacagagatgcccttgctgGggtctacgtccttagatgga	13	9	1	2	rs150783672	by1000genomes	TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:162824952G>C	uc001gck.2	-	3	687	c.512C>G	c.(511-513)cCc>cGc	p.P171R	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.P170R	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	171										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GCCCTTGCTGGGGTCTACGTC	0.468													4	220					0	0	1	0	0	C	162824952	G	C	162824952	3	2	146	1	0	0	0	0	1	0	0	0	1983	1232	43	4	400	4	C1orf110	1	162824952	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	51083589	162824952	86425669	3	2515											
NUP133	55746	broad.mit.edu	37	chr1	229577762	229577763	+	Missense_Mutation	DNP	CG	CG	AT													tgtagcaggtctttcacctcCggtaagtactcactgagctg							TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:229577762_229577763CG>AT	uc001htn.3	-	25	3451_3452	c.3359_3360CG>AT	c.(3358-3360)ccg>cAT	p.P1120H		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	1120					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTTCACCTCCGGTAAGTACTC	0.351													6	191					0	0	1	0	0	AT	229577763	CG	AT	229577762	3	1	146	1	0	0	0	0	1	0	0	0	10754	639	23	4	114	4	NUP133	1	229577762	Missense_Mutation	DNP	CG	TCGA-E8-A2EA-01A-11D-A17V-08	66752810	229577762	19672859	4	2516											
GALNT2	2590	broad.mit.edu	37	chr1	230203102	230203102	+	Frame_Shift_Del	DEL	G	G	-													atcgcctactacatgtactcGgggggcggctctgcgctggc							TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:230203102delG	uc010pwa.1	+	0	147	c.75delG	c.(73-75)tcgfs	p.S25fs	GALNT2_uc010pvy.1_Intron|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	25					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACATGTACTCGGGGGGCGGCT	0.771													2	4	---	---	---	---						-	230203102	G	-	230203102	7	5	146	1	0	1	0	1	0	0	0	0	6213	1103	39	0	77	0	GALNT2	1	230203102	Frame_Shift_Del	DEL	G	TCGA-E8-A2EA-01A-11D-A17V-08	625340	230203102	19047519	5	2517											
MARCH7	64844	broad.mit.edu	37	chr2	160605230	160605231	+	Missense_Mutation	DNP	GG	GG	TT													gaagaaatacaggaatatcaGggattcttcctggttcctta							TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr2:160605230_160605231GG>TT	uc002uax.3	+	4	1551_1552	c.1429_1430GG>TT	c.(1429-1431)ggg>TTg	p.G477L	MARCH7_uc010foq.3_Missense_Mutation_p.G477L|MARCH7_uc010zcn.2_Missense_Mutation_p.G421L|MARCH7_uc010for.3_Missense_Mutation_p.G439L|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	477							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGGAATATCAGGGATTCTTCCT	0.47													11	282					0	0	1	0	0	TT	160605231	GG	TT	160605230	3	4	146	1	0	0	0	0	1	0	0	0	9306	1000	35	4	1443	4	MARCH7	2	160605230	Missense_Mutation	DNP	GG	TCGA-E8-A2EA-01A-11D-A17V-08		160605230	82594143	6	2518											
TBC1D1	23216	broad.mit.edu	37	chr4	38016200	38016200	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggaggagctgcactgcccgtCcgagttcgacgacacgtttt	13	12	0	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:38016200C>G	uc003gtb.3	+	2	846	c.488C>G	c.(487-489)tCc>tGc	p.S163C	TBC1D1_uc011byd.2_Missense_Mutation_p.S163C|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.S34C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	163						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CACTGCCCGTCCGAGTTCGAC	0.622													28	120					0	0	1	0	0	G	38016200	C	G	38016200	3	3	146	1	0	0	0	0	1	0	0	0	15594	855	30	4	494	4	TBC1D1	4	38016200	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		38016200	153138076	7	2519											
PDS5A	23244	broad.mit.edu	37	chr4	39910084	39910084	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actaaggccaggtccctcttGgcagctgttattatagtaac	9	10	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:39910084G>T	uc003guv.4	-	10	1704	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	PDS5A_uc003guw.4_Silent_p.A388A	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	388					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GGTCCCTCTTGGCAGCTGTTA	0.358													96	208					0	0	1	0	0	T	39910084	G	T	39910084	2	4	146	1	0	0	0	0	0	0	0	1	11691	1335	47	4		4	PDS5A	4	39910084	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	1893884	39910084	151244192	8	2520											
MUC17	140453	broad.mit.edu	37	chr7	100677148	100677148	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atacctgtcagcatcacaccGgtgaccagtcctgaggctag	10	13	2	2			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr7:100677148G>C	uc003uxp.1	+	2	2504	c.2451G>C	c.(2449-2451)ccG>ccC	p.P817P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	817	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCATCACACCGGTGACCAGTC	0.488													6	509					0	0	1	0	0	C	100677148	G	C	100677148	2	2	146	1	0	0	0	0	0	0	0	1	9974	1103	39	4		4	MUC17	7	100677148	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		100677148	58461515	9	2521											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	30					0	0	1	0	0	T	140453136	A	T	140453136	3	4	146	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A2EA-01A-11D-A17V-08	39775988	140453136	18685527	10	2522											
KCNU1	157855	broad.mit.edu	37	chr8	36698048	36698048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaaaattctgacccaacGtctctctgatgactttgctg	6	11	3	3			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:36698048G>A	uc010lvw.3	+	14	1673	c.1586G>A	c.(1585-1587)cGt>cAt	p.R529H	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	529						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGACCCAACGTCTCTCTGAT	0.403													8	15					0	0	1	0	0	A	36698048	G	A	36698048	3	1	146	1	0	0	0	0	1	0	0	0	8093	1145	40	1	1644	1	KCNU1	8	36698048	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		36698048	109665974	11	2523											
FAM83A	84985	broad.mit.edu	37	chr8	124219784	124219784	+	Frame_Shift_Del	DEL	G	G	-													ccccaggcccacctctccccGcggccccacgacggcccgcc							TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:124219784delG	uc003ypv.3	+	4	3175	c.1161delG	c.(1159-1161)ccgfs	p.P387fs	FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Frame_Shift_Del_p.P387fs|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	387	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCTCTCCCCGCGGCCCCACG	0.766													2	4	---	---	---	---						-	124219784	G	-	124219784	7	5	146	1	0	1	0	1	0	0	0	0	5633	1074	38	0	1175	0	FAM83A	8	124219784	Frame_Shift_Del	DEL	G	TCGA-E8-A2EA-01A-11D-A17V-08	87521736	124219784	22144238	12	2524											
PFKP	5214	broad.mit.edu	37	chr10	3155654	3155654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgcgcgtgggcattgccGacggccacaggatgctcgcc	15	14	0	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:3155654G>A	uc001igp.3	+	12	1391	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	PFKP_uc001igq.3_Missense_Mutation_p.D431N|PFKP_uc009xhr.3_Missense_Mutation_p.D401N|PFKP_uc009xhs.1_Missense_Mutation_p.D223N|PFKP_uc009xht.3_Missense_Mutation_p.D177N|PFKP_uc009xhu.3_5'UTR	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	439					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGGCATTGCCGACGGCCACAG	0.617													10	21					0	0	1	0	0	A	3155654	G	A	3155654	3	1	146	1	0	0	0	0	1	0	0	0	11766	1058	37	1	1365	1	PFKP	10	3155654	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		3155654	132379093	13	2525											
REEP3	221035	broad.mit.edu	37	chr10	65379435	65379435	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttatggaattccactgaaaGacggagatgagaaaacagat	11	5	0	5			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:65379435G>C	uc001jmt.3	+	6	769	c.586G>C	c.(586-588)Gac>Cac	p.D196H		NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	Homo sapiens receptor accessory protein 3 (REEP3), mRNA.	196						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCCACTGAAAGACGGAGATGA	0.428													3	15					0	0	1	0	0	C	65379435	G	C	65379435	3	2	146	1	0	0	0	0	1	0	0	0	13206	942	33	4	612	4	REEP3	10	65379435	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	62223781	65379435	70155312	14	2526											
TRIM5	85363	broad.mit.edu	37	chr11	5686237	5686237	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacaaataatcacagagagGggcacaatgaaaggaacaga	12	6	1	3			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:5686237G>C	uc001mbm.2	-	7	1587	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P	TRIM6-TRIM34_uc009yer.3_Intron|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Intron|TRIM5_uc001mbp.3_3'UTR	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	428	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCACAGAGAGGGGCACAATGA	0.418													3	70					0	0	1	0	0	C	5686237	G	C	5686237	2	2	146	1	0	0	0	0	0	0	0	1	16522	1219	43	4		4	TRIM5	11	5686237	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		5686237	129320279	15	2527											
LRP5	4041	broad.mit.edu	37	chr11	68201226	68201226	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcccagttcccctgcgcgcGgggtcagtgtgtggacctgc	15	15	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:68201226G>C	uc001ont.3	+	17	3995	c.3920G>C	c.(3919-3921)cGg>cCg	p.R1307P	LRP5_uc009ysg.3_Missense_Mutation_p.R717P	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1307	LDL-receptor class A 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGCGCGCGGGGTCAGTGT	0.711													3	43					0	0	1	0	0	C	68201226	G	C	68201226	3	2	146	1	0	0	0	0	1	0	0	0	8960	1116	39	4	3990	4	LRP5	11	68201226	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	62514989	68201226	66805290	16	2528											
DYRK4	8798	broad.mit.edu	37	chr12	4708955	4708955	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttatgaacaccagaaagGtgagccccatgtcagtccca	9	12	1	3			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:4708955G>A	uc009zeh.1	+	10	1168	c.1126_splice	c.e10+1	p.V376_splice	DYRK4_uc001qmx.3_Splice_Site_p.V261_splice|DYRK4_uc001qmy.2_Splice_Site_p.V261_splice|DYRK4_uc021qtq.1_Splice_Site_p.V115_splice	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	261	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CACCAGAAAGGTGAGCCCCAT	0.453													18	62					0	0	1	0	0	A	4708955	G	A	4708955	5	1	146	1	0	0	0	0	0	0	1	0	4858	1275	44	2	804	2	DYRK4	12	4708955	Splice_Site	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		4708955	129142940	17	2529											
CAND1	55832	broad.mit.edu	37	chr12	67704013	67704013	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgagtgtatgtacacacttCtagacagttgtcttgataga	9	6	2	4			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:67704013C>G	uc001stn.2	+	12	3714	c.3277C>G	c.(3277-3279)Cta>Gta	p.L1093V	CAND1_uc001sto.2_Missense_Mutation_p.L603V	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	1093					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTACACACTTCTAGACAGTTG	0.343													3	59					0	0	1	0	0	G	67704013	C	G	67704013	3	3	146	1	0	0	0	0	1	0	0	0	2615	912	32	4	3327	4	CAND1	12	67704013	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	62995058	67704013	66147882	18	2530											
STOML3	161003	broad.mit.edu	37	chr13	39541133	39541133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagactcagccagcaccatGgaggctgacttcagggattt	13	10	2	2			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:39541133G>A	uc001uwx.3	-	6	843	c.705C>T	c.(703-705)tcC>tcT	p.S235S	STOML3_uc010tez.2_Silent_p.S226S	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	235						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCAGCACCATGGAGGCTGACT	0.468													9	37					0	0	1	0	0	A	39541133	G	A	39541133	2	1	146	1	0	0	0	0	0	0	0	1	15314	1335	47	2		2	STOML3	13	39541133	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		39541133	75628745	19	2531											
SLC15A1	6564	broad.mit.edu	37	chr13	99339859	99339859	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaatatgagaattccaatccCgtgacagagaagaccacttc	8	10	0	4	rs146831294		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:99339859C>G	uc001vno.3	-	20	1880	c.1803G>C	c.(1801-1803)acG>acC	p.T601T		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	601					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTCCAATCCCGTGACAGAGA	0.423													4	152					0	0	1	0	0	G	99339859	C	G	99339859	2	3	146	1	0	0	0	0	0	0	0	1	14398	639	23	4		4	SLC15A1	13	99339859	Silent	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	59798726	99339859	15830019	20	2532											
ADAMTS7	11173	broad.mit.edu	37	chr15	79069817	79069817	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaaggcagagtaggccCcgtactggaggcggcactgg	17	11	0	2			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr15:79069817C>G	uc002bej.4	-	8	1647	c.1436G>C	c.(1435-1437)gGg>gCg	p.G479A	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.G479A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	479	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGAGTAGGCCCCGTACTGGAG	0.652													3	16					0	0	1	0	0	G	79069817	C	G	79069817	3	3	146	1	0	0	0	0	1	0	0	0	271	623	22	4	3688	4	ADAMTS7	15	79069817	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		79069817	23461575	21	2533											
CDR2	1039	broad.mit.edu	37	chr16	22360757	22360757	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcaggcattcaatcgtttCagtcaggctgtgaggaacag	12	8	3	1			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr16:22360757C>T	uc002dkn.3	-	3	657	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	117						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCAATCGTTTCAGTCAGGCTG	0.512													10	142					0	0	1	0	0	T	22360757	C	T	22360757	3	4	146	1	0	0	0	0	1	0	0	0	3172	835	29	2	1023	2	CDR2	16	22360757	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		22360757	67993996	22	2534											
SAMD1	90378	broad.mit.edu	37	chr19	14199308	14199308	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgctcgtagattttcAgggctggcccgaggcggatg	17	8	1	1			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:14199308A>G	uc010xnl.2	-	5	1220	c.1220T>C	c.(1219-1221)cTg>cCg	p.L407P		NM_138352	NP_612361	Q6SPF0	SAMD1_HUMAN	Homo sapiens sterile alpha motif domain containing 1 (SAMD1), mRNA.	513						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		GTAGATTTTCAGGGCTGGCCC	0.582													3	67					0	0	1	0	0	G	14199308	A	G	14199308	3	3	146	1	0	0	0	0	1	0	0	0	13814	188	7	3	81	3	SAMD1	19	14199308	Missense_Mutation	SNP	A	TCGA-E8-A2EA-01A-11D-A17V-08		14199308	44929675	23	2535											
ZNF577	84765	broad.mit.edu	37	chr19	52376484	52376484	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtctattgagccggcacttCcggctgaaggcttttccgca	11	12	1	2			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:52376484C>A	uc010yde.2	-	6	1150	c.759G>T	c.(757-759)cgG>cgT	p.R253R	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Silent_p.R194R|ZNF577_uc002pxv.3_Silent_p.R246R|ZNF577_uc002pxw.3_Silent_p.R187R	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H253Y(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCGGCACTTCCGGCTGAAGG	0.498													12	29					0	0	1	0	0	A	52376484	C	A	52376484	2	1	146	1	0	0	0	0	0	0	0	1	18006	842	30	4		4	ZNF577	19	52376484	Silent	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	38177176	52376484	6752499	24	2536											
ZNF580	51157	broad.mit.edu	37	chr19	56153901	56153901	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgccgccgcggccaccCcaccctcggtcctcctctcc	8	24	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:56153901C>G	uc002qlo.3	+	1	197	c.27C>G	c.(25-27)ccC>ccG	p.P9P	ZNF581_uc002qln.3_Intron|ZNF580_uc002qlp.3_Silent_p.P9P|ZNF580_uc010ygd.2_Silent_p.P9P|ZNF581_uc002qlq.3_5'Flank|ZNF581_uc021vcb.1_5'Flank	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	Homo sapiens zinc finger protein 580 (ZNF580), transcript variant 2, mRNA.	9	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGCGGCCACCCCACCCTCGGT	0.647													3	36					0	0	1	0	0	G	56153901	C	G	56153901	2	3	146	1	0	0	0	0	0	0	0	1	18009	610	22	4		4	ZNF580	19	56153901	Silent	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	3777417	56153901	2975082	25	2537											
CSF2RB	1439	broad.mit.edu	37	chr22	37333582	37333582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccgcctgccgcctccCacacacctgagaaacaggct	9	19	0	1			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr22:37333582C>T	uc003aqc.4	+	12	1922	c.1750C>T	c.(1750-1752)Cac>Tac	p.H584Y	CSF2RB_uc003aqa.4_Missense_Mutation_p.H578Y	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	578					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGCCGCCTCCCACACACCTGA	0.662													7	18					0	0	1	0	0	T	37333582	C	T	37333582	3	4	146	1	0	0	0	0	1	0	0	0	3935	594	21	2	1782	2	CSF2RB	22	37333582	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		37333582	13970984	26	2538											
PLXNB3	5365	broad.mit.edu	37	chrX	153039673	153039673	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacctgggcatcagcaaggaGgaggtgcgcgtgcacatcgg	16	10	1	0			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chrX:153039673G>C	uc010nuk.2	+	21	3892	c.3621G>C	c.(3619-3621)gaG>gaC	p.E1207D	PLXNB3_uc004fii.2_Missense_Mutation_p.E1184D|PLXNB3_uc011mzd.1_Missense_Mutation_p.E823D|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1184	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCAAGGAGGAGGTGCGCG	0.711													4	13					0	0	1	0	0	C	153039673	G	C	153039673	3	2	146	1	0	0	0	0	1	0	0	0	12125	991	35	4	3748	4	PLXNB3	23	153039673	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		153039673	2230887	27	2539											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	80					0	0	1	0	0	T	140453136	A	T	140453136	3	4	147	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A413-01A-21D-A23M-08		140453136	18685527	1	2540											
NAA16	79612	broad.mit.edu	37	chr13	41949684	41949684	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgaagtcgacaatccTaatgtggcactgaaccatac	9	9	0	3			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr13:41949684T>G	uc001uyf.2	+	19	2865	c.2541T>G	c.(2539-2541)ccT>ccG	p.P847P	NAA16_uc010tfg.1_Non-coding_Transcript	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	847					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TCGACAATCCTAATGTGGCAC	0.393													32	91					0	0	1	0	0	G	41949684	T	G	41949684	2	3	147	1	0	0	0	0	0	0	0	1	10119	1509	53	5		5	NAA16	13	41949684	Silent	SNP	T	TCGA-E8-A413-01A-21D-A23M-08		41949684	73220194	2	2541											
ZC3H13	23091	broad.mit.edu	37	chr13	46559772	46559772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtccctagtatctctggcAtctctccgatcccgaccatc	7	17	2	0			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr13:46559772A>G	uc010tfw.1	-	8	1386	c.1380T>C	c.(1378-1380)gaT>gaC	p.D460D	ZC3H13_uc001vas.1_Silent_p.D460D|ZC3H13_uc001vat.1_Silent_p.D460D	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	460	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TATCTCTGGCATCTCTCCGAT	0.488													10	215					0	0	1	0	0	G	46559772	A	G	46559772	2	3	147	1	0	0	0	0	0	0	0	1	17562	214	8	3		3	ZC3H13	13	46559772	Silent	SNP	A	TCGA-E8-A413-01A-21D-A23M-08	4610088	46559772	68610106	3	2542											
C14orf183	196913	broad.mit.edu	37	chr14	50550617	50550617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggctggccaccaacacCgcacccacctgtggggcctc	12	17	0	0			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr14:50550617C>T	uc010tqk.2	-	4	727	c.727G>A	c.(727-729)Ggt>Agt	p.G243S		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	Homo sapiens chromosome 14 open reading frame 183 (C14orf183), mRNA.	243										endometrium(2)|large_intestine(2)|lung(3)	7						CCACCAACACCGCACCCACCT	0.677													3	29					0	0	1	0	0	T	50550617	C	T	50550617	3	4	147	1	0	0	0	0	1	0	0	0	1766	652	23	1	250	1	C14orf183	14	50550617	Missense_Mutation	SNP	C	TCGA-E8-A413-01A-21D-A23M-08		50550617	56798923	4	2543											
SLC28A1	9154	broad.mit.edu	37	chr15	85478621	85478621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggaggactgcccagtgGtagctgagctgctggggatc	18	9	0	1			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr15:85478621G>A	uc002blg.3	+	14	1655	c.1453G>A	c.(1453-1455)Gta>Ata	p.V485I	SLC28A1_uc010bnb.3_Missense_Mutation_p.V485I|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.V485I|SLC28A1_uc010upg.1_Missense_Mutation_p.V485I	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	485					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGCCCAGTGGTAGCTGAGCT	0.597													28	79					0	0	1	0	0	A	85478621	G	A	85478621	3	1	147	1	0	0	0	0	1	0	0	0	14531	1261	44	2	1574	2	SLC28A1	15	85478621	Missense_Mutation	SNP	G	TCGA-E8-A413-01A-21D-A23M-08		85478621	17052771	5	2544											
PDE4DIP	9659	broad.mit.edu	37	chr1	144854644	144854644	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagttccagaagttccctttCtgttgattctccctggataa	7	11	2	2			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr1:144854644C>T	uc021ouh.1	-	41	7128	c.6826G>A	c.(6826-6828)Gaa>Aaa	p.E2276K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E2276K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E2170K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E1283K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2276					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTTCCCTTTCTGTTGATTCT	0.478			T	PDGFRB	MPD								23	152					0	0	1	0	0	T	144854644	C	T	144854644	3	4	148	1	0	0	0	0	1	0	0	0	11643	922	32	2	226	2	PDE4DIP	1	144854644	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		144854644	104395977	1	2545											
NLRC4	58484	broad.mit.edu	37	chr2	32476199	32476199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgtagccatcaagaaggAaaagaaccctctgccgcagc	9	12	2	2			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr2:32476199A>G	uc002roi.3	-	3	995	c.734T>C	c.(733-735)tTc>tCc	p.F245S	NLRC4_uc021vfq.1_Missense_Mutation_p.F245S|NLRC4_uc002roj.2_Missense_Mutation_p.F245S|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	245	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATCAAGAAGGAAAAGAACCCT	0.483													16	111					0	0	1	0	0	G	32476199	A	G	32476199	3	3	148	1	0	0	0	0	1	0	0	0	10469	246	9	3	2364	3	NLRC4	2	32476199	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08		32476199	210723174	2	2546											
ABLIM3	22885	broad.mit.edu	37	chr5	148624541	148624541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacccctactatgcttcGgagtctgagtactggaccta	9	13	1	2			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr5:148624541G>A	uc003lpy.2	+	15	1700	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	ABLIM3_uc003lpz.1_Silent_p.S483S|ABLIM3_uc003lqa.1_Silent_p.S380S|ABLIM3_uc003lqb.3_Silent_p.S372S|ABLIM3_uc003lqc.1_Silent_p.S450S|ABLIM3_uc003lqd.1_Silent_p.S388S|ABLIM3_uc003lqe.1_Silent_p.S372S|ABLIM3_uc003lqf.3_Silent_p.S372S	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	483					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATGCTTCGGAGTCTGAGT	0.547													6	70					0	0	1	0	0	A	148624541	G	A	148624541	2	1	148	1	0	0	0	0	0	0	0	1	96	1103	39	1		1	ABLIM3	5	148624541	Silent	SNP	G	TCGA-E8-A415-01A-11D-A23M-08		148624541	32290719	3	2547											
NPSR1	387129	broad.mit.edu	37	chr7	34698077	34698077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtgggaccgggcagaCgctggattcttccccagtgg	14	12	1	1	rs149663215	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:34698077C>T	uc003teh.1	+	0	181	c.53C>T	c.(52-54)aCg>aTg	p.T18M	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.T18M|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.T18M|NPSR1_uc003tei.1_Missense_Mutation_p.T18M|NPSR1_uc010kww.1_Missense_Mutation_p.T18M|NPSR1_uc011kar.1_Missense_Mutation_p.T18M	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	18						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCGGGCAGACGCTGGATTCT	0.542													18	50					0	0	1	0	0	T	34698077	C	T	34698077	3	4	148	1	0	0	0	0	1	0	0	0	10600	536	19	1	55	1	NPSR1	7	34698077	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		34698077	124440586	4	2548											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				9	32					0	0	1	0	0	T	140453136	A	T	140453136	3	4	148	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08	105755059	140453136	18685527	5	2549											
ZNF169	169841	broad.mit.edu	37	chr9	97062729	97062729	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtgcagggaatgtgggCgacacttcaggtatacatcc	13	8	1	0	rs145151490	by1000genomes	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:97062729C>T	uc004aum.1	+	4	994	c.889C>T	c.(889-891)Cga>Tga	p.R297*	ZNF169_uc022bki.1_Nonsense_Mutation_p.R298*	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	297						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGAATGTGGGCGACACTTCAG	0.562													23	79					0	0	1	0	0	T	97062729	C	T	97062729	4	4	148	1	0	0	0	0	0	1	0	0	17739	760	27	1	903	1	ZNF169	9	97062729	Nonsense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		97062729	44150702	6	2550											
ABCA2	20	broad.mit.edu	37	chr9	139915257	139915257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagagggtgcgcccTcctcagcggtggcgttgggg	18	12	1	1			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:139915257T>C	uc004ckm.1	-	8	1291	c.1241A>G	c.(1240-1242)gAg>gGg	p.E414G	ABCA2_uc022bpy.1_Missense_Mutation_p.E315G|ABCA2_uc022bpz.1_Missense_Mutation_p.E385G|ABCA2_uc011mem.1_Missense_Mutation_p.E384G|ABCA2_uc004ckl.1_Missense_Mutation_p.E315G|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Missense_Mutation_p.E161G|ABCA2_uc010nca.3_Missense_Mutation_p.E315G	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	384					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTGCGCCCTCCTCAGCGGT	0.716													3	12					0	0	1	0	0	C	139915257	T	C	139915257	3	2	148	1	0	0	0	0	1	0	0	0	32	1551	54	3	6320	3	ABCA2	9	139915257	Missense_Mutation	SNP	T	TCGA-E8-A415-01A-11D-A23M-08	42852528	139915257	1298174	7	2551											
CYFIP1	23191	broad.mit.edu	37	chr15	22956381	22956381	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgggctttttgagtttggcAtaactaatgtaccatgtata	9	5	0	1			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr15:22956381A>T	uc001yuu.3	+	0	627	c.325A>T	c.(325-327)Ata>Tta	p.I109L	CYFIP1_uc001yus.3_Intron|CYFIP1_uc001yut.3_Intron|CYFIP1_uc010aya.1_Intron	NM_001033028	NP_001028200	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 2, mRNA.	0					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding	p.E109D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGAGTTTGGCATAACTAATGT	0.532													10	47					0	0	1	0	0	T	22956381	A	T	22956381	3	4	148	1	0	0	0	0	1	0	0	0	4137	217	8	5	2057	5	CYFIP1	15	22956381	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08		22956381	79575011	8	2552											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216353	8216353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtccccagggtccccCgtcgggcctccccgctgcgg	15	18	0	0			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr17:8216353C>T	uc002glc.3	+	2	870	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Missense_Mutation_p.R239C|ARHGEF15_uc010vuw.2_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	239					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R239C(2)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGGGTCCCCCGTCGGGCCTC	0.706													10	147					0	0	1	0	0	T	8216353	C	T	8216353	3	4	148	1	0	0	0	0	1	0	0	0	898	652	23	1	721	1	ARHGEF15	17	8216353	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		8216353	72978857	9	2553											
UBQLN2	29978	broad.mit.edu	37	chrX	56592023	56592023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctggctggagcaaatgctCcacagctgccgaatccagaa	10	14	0	1			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:56592023C>T	uc004dus.3	+	0	1998	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	UBQLN2_uc011moq.1_Missense_Mutation_p.P461S	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	573						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCAAATGCTCCACAGCTGCC	0.517													12	44					0	0	1	0	0	T	56592023	C	T	56592023	3	4	148	1	0	0	0	0	1	0	0	0	16894	855	30	2	1719	2	UBQLN2	23	56592023	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		56592023	98678537	10	2554											
RER1	11079	broad.mit.edu	37	chr1	2334476	2334476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtttctctccccagcaCatgattaagtaccggtacat	7	12	1	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:2334476C>T	uc001aje.2	+	6	695	c.504C>T	c.(502-504)caC>caT	p.H168H	RER1_uc001ajf.2_3'UTR	NM_007033	NP_008964	O15258	RER1_HUMAN	Homo sapiens RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) (RER1), mRNA.	168				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).	retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CTCCCCAGCACATGATTAAGT	0.542													48	101					0	0	1	0	0	T	2334476	C	T	2334476	2	4	149	1	0	0	0	0	0	0	0	1	13230	477	17	2		2	RER1	1	2334476	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		2334476	246916145	1	2555											
PADI1	29943	broad.mit.edu	37	chr1	17559436	17559436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggaataccccctgggCcggatcctcatcgggagcag	14	14	1	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:17559436C>T	uc001bah.1	+	10	1376	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	428					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACCCCCTGGGCCGGATCCTCA	0.692													18	18					0	0	1	0	0	T	17559436	C	T	17559436	2	4	149	1	0	0	0	0	0	0	0	1	11377	726	26	2		2	PADI1	1	17559436	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	15224960	17559436	231691185	2	2556											
DLEC1	9940	broad.mit.edu	37	chr3	38087109	38087109	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcactcaggcccaagcacggGctattgcggaaaatgagcgg	13	11	2	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:38087109G>C	uc003chp.1	+	1	508	c.487G>C	c.(487-489)Gct>Cct	p.A163P	DLEC1_uc003cho.1_Missense_Mutation_p.A163P|DLEC1_uc010hgv.1_Missense_Mutation_p.A163P	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	163					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAAGCACGGGCTATTGCGGA	0.532													53	52					0	0	1	0	0	C	38087109	G	C	38087109	3	2	149	1	0	0	0	0	1	0	0	0	4552	1203	42	4	493	4	DLEC1	3	38087109	Missense_Mutation	SNP	G	TCGA-E8-A418-01A-11D-A23M-08		38087109	159935321	3	2557											
EVC	2121	broad.mit.edu	37	chr4	5755545	5755545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaagacctggtcacggCgtctctggctcaccaggtgg	14	12	3	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:5755545C>A	uc003gil.1	+	9	1533	c.1349C>A	c.(1348-1350)gCg>gAg	p.A450E	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	450					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGGTCACGGCGTCTCTGGCT	0.582													68	87					0	0	1	0	0	A	5755545	C	A	5755545	3	1	149	1	0	0	0	0	1	0	0	0	5285	768	27	4	1387	4	EVC	4	5755545	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		5755545	185398731	4	2558											
ADH1B	125	broad.mit.edu	37	chr4	100232046	100232046	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacaagttttgggataccttCtttactcttaaagcctgaaa	6	9	2	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:100232046C>G	uc003hus.4	-	7	1063	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	ADH1B_uc003hut.4_Missense_Mutation_p.E287Q|ADH1B_uc011ceh.2_Missense_Mutation_p.E172Q|ADH1B_uc011cei.1_Missense_Mutation_p.E287Q	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	327					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGGATACCTTCTTTACTCTTA	0.328													74	117					0	0	1	0	0	G	100232046	C	G	100232046	3	3	149	1	0	0	0	0	1	0	0	0	308	922	32	4	156	4	ADH1B	4	100232046	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	94476501	100232046	90922230	5	2559											
HCN1	348980	broad.mit.edu	37	chr5	45262720	45262720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagattgtgtcctcatgCgggaggtcggggtcgtagta	18	6	1	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:45262720C>T	uc003jok.3	-	7	2001	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	659						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R659L(4)|p.R659S(1)|p.S658S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTCCTCATGCGGGAGGTCGG	0.567													62	67					0	0	1	0	0	T	45262720	C	T	45262720	3	4	149	1	0	0	0	0	1	0	0	0	6996	768	27	1	700	1	HCN1	5	45262720	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		45262720	135652540	6	2560											
PCSK1	5122	broad.mit.edu	37	chr5	95728775	95728775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcttgtaaggtttaGtgttataaaaaacatcaaca	7	6	2	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:95728775G>A	uc003kls.2	-	13	2431	c.2192C>T	c.(2191-2193)aCt>aTt	p.T731I	PCSK1_uc010jbi.2_Missense_Mutation_p.T421I|PCSK1_uc021ybq.1_Missense_Mutation_p.T684I	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	731					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTAAGGTTTAGTGTTATAAAA	0.398													25	292					0	0	1	0	0	A	95728775	G	A	95728775	3	1	149	1	0	0	0	0	1	0	0	0	11600	1029	36	2	73	2	PCSK1	5	95728775	Missense_Mutation	SNP	G	TCGA-E8-A418-01A-11D-A23M-08	50466055	95728775	85186485	7	2561											
KIAA0240	23506	broad.mit.edu	37	chr6	42830261	42830261	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttcagcgaatcaatccctCtgctgagatggtgatgatcg	10	9	3	3			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr6:42830261C>G	uc003osn.1	+	11	2514	c.2363C>G	c.(2362-2364)tCt>tGt	p.S788C	KIAA0240_uc011duw.1_Missense_Mutation_p.S788C|KIAA0240_uc003osp.1_Missense_Mutation_p.S788C	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	788										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			ATCAATCCCTCTGCTGAGATG	0.403													12	257					0	0	1	0	0	G	42830261	C	G	42830261	3	3	149	1	0	0	0	0	1	0	0	0	8164	913	32	4	2401	4	KIAA0240	6	42830261	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		42830261	128284806	8	2562											
SLC13A1	6561	broad.mit.edu	37	chr7	122821049	122821049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttagaaggcatgatcccaAacatgggtaacattaaacta	7	8	1	2			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:122821049A>T	uc003vkm.3	-	1	231	c.206T>A	c.(205-207)tTt>tAt	p.F69Y	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	69						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CATGATCCCAAACATGGGTAA	0.398													33	32					0	0	1	0	0	T	122821049	A	T	122821049	3	4	149	1	0	0	0	0	1	0	0	0	14391	14	1	5	1637	5	SLC13A1	7	122821049	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08		122821049	36317614	9	2563											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				46	61					0	0	1	0	0	T	140453136	A	T	140453136	3	4	149	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08	17632087	140453136	18685527	10	2564											
INTS10	55174	broad.mit.edu	37	chr8	19677984	19677984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagaacgatcagaaatgttGcttctacttttgaggcgctt	9	7	2	3			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:19677984G>T	uc022asn.1	+	3	527	c.396G>T	c.(394-396)ttG>ttT	p.L132F	INTS10_uc003wzj.3_Missense_Mutation_p.L132F	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	132	Poly-Leu.				snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAGAAATGTTGCTTCTACTTT	0.423													39	78					0	0	1	0	0	T	19677984	G	T	19677984	3	4	149	1	0	0	0	0	1	0	0	0	7776	1310	46	4	410	4	INTS10	8	19677984	Missense_Mutation	SNP	G	TCGA-E8-A418-01A-11D-A23M-08		19677984	126686038	11	2565											
WISP1	8840	broad.mit.edu	37	chr8	134232918	134232918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaactgcacgtgcatcgaCggcgcggtgggctgcacacc	13	14	0	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:134232918C>T	uc003yub.3	+	2	550	c.444C>T	c.(442-444)gaC>gaT	p.D148D	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	148	VWFC.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding	p.D148E(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGTGCATCGACGGCGCGGTGG	0.667													64	122					0	0	1	0	0	T	134232918	C	T	134232918	2	4	149	1	0	0	0	0	0	0	0	1	17369	535	19	1		1	WISP1	8	134232918	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	114554934	134232918	12131104	12	2566											
FAM122A	116224	broad.mit.edu	37	chr9	71395286	71395286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaacgttcccgagccgccAcggcctgctgctgccggcct	11	19	0	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr9:71395286A>G	uc004agw.1	+	0	323	c.206A>G	c.(205-207)cAc>cGc	p.H69R	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	69										endometrium(1)|lung(2)	3						CCGAGCCGCCACGGCCTGCTG	0.657													58	100					0	0	1	0	0	G	71395286	A	G	71395286	3	3	149	1	0	0	0	0	1	0	0	0	5419	159	6	3	208	3	FAM122A	9	71395286	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08		71395286	69818145	13	2567											
MUC6	4588	broad.mit.edu	37	chr11	1029335	1029335	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtgtccggggcacggccgctCcgtgcacacccagcggccca	14	18	0	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:1029335C>G	uc001lsw.2	-	9	1219	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	390					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGGCCGCTCCGTGCACACC	0.687													9	21					0	0	1	0	0	G	1029335	C	G	1029335	3	3	149	1	0	0	0	0	1	0	0	0	9980	864	30	4	6247	4	MUC6	11	1029335	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		1029335	133977181	14	2568											
PDHX	8050	broad.mit.edu	37	chr11	34938261	34938261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgttatcttgtgggctTccccggccgccgaagcgtag	14	13	1	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:34938261T>G	uc001mvt.3	+	0	585	c.59T>G	c.(58-60)tTc>tGc	p.F20C	PDHX_uc010rep.2_Intron|PDHX_uc010req.2_Missense_Mutation_p.F20C|APIP_uc010reo.1_5'Flank|APIP_uc001mvs.2_5'Flank	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	20					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTTGTGGGCTTCCCCGGCCGC	0.642													22	31					0	0	1	0	0	G	34938261	T	G	34938261	3	3	149	1	0	0	0	0	1	0	0	0	11667	1783	62	5	180	5	PDHX	11	34938261	Missense_Mutation	SNP	T	TCGA-E8-A418-01A-11D-A23M-08	33908926	34938261	100068255	15	2569											
CPT1A	1374	broad.mit.edu	37	chr11	68582878	68582878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagagcttcatggctcagcCgcaggtcaatcccgtccgga	11	13	3	1	rs141658962		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:68582878C>T	uc001oog.4	-	1	235	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CPT1A_uc001oof.4_Missense_Mutation_p.R22Q	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	22					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATGGCTCAGCCGCAGGTCAAT	0.458													16	80					0	0	1	0	0	T	68582878	C	T	68582878	3	4	149	1	0	0	0	0	1	0	0	0	3831	652	23	1	2368	1	CPT1A	11	68582878	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	33644617	68582878	66423638	16	2570											
MLL	4297	broad.mit.edu	37	chr11	118377159	118377160	+	Missense_Mutation	DNP	TC	TC	GT													gccccacctctcctgggggtTctccatcctctccatcttct							TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:118377159_118377160TC>GT	uc001ptb.3	+	26	10575_10576	c.10552_10553TC>GT	c.(10552-10554)tct>GTt	p.S3518V	MLL_uc001pta.3_Missense_Mutation_p.S3515V	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.	3515					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TCCTGGGGGTTCTCCATCCTCT	0.55			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								58	79					0	0	1	0	0	GT	118377160	TC	GT	118377159	3	3	149	1	0	0	0	0	1	0	0	0	9620	1783	62	5	10649	5	MLL	11	118377159	Missense_Mutation	DNP	TC	TCGA-E8-A418-01A-11D-A23M-08	49794281	118377159	16629357	17	2571											
PTPRR	5801	broad.mit.edu	37	chr12	71056321	71056321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttatcacattcatttacaCtgataaccagaacctcaact	3	11	3	2			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:71056321C>T	uc001swi.2	-	10	1976	c.1562G>A	c.(1561-1563)aGt>aAt	p.S521N	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.S276N|PTPRR_uc009zrs.3_Missense_Mutation_p.S315N|PTPRR_uc010stq.2_Missense_Mutation_p.S409N|PTPRR_uc010str.1_Missense_Mutation_p.S370N	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	521	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTCATTTACACTGATAACCAG	0.363													23	39					0	0	1	0	0	T	71056321	C	T	71056321	3	4	149	1	0	0	0	0	1	0	0	0	12810	565	20	2	427	2	PTPRR	12	71056321	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		71056321	62795574	18	2572											
GAS2L3	283431	broad.mit.edu	37	chr12	101017896	101017896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgagaaaatgtatttcatCccccaatacccccaaggcca	5	15	1	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:101017896C>T	uc001thu.3	+	9	1539	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	GAS2L3_uc009zty.3_Missense_Mutation_p.S438F|GAS2L3_uc001thv.3_Missense_Mutation_p.S334F	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	438					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTATTTCATCCCCCAATACC	0.433													9	207					0	0	1	0	0	T	101017896	C	T	101017896	3	4	149	1	0	0	0	0	1	0	0	0	6248	855	30	2	1343	2	GAS2L3	12	101017896	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	29961575	101017896	32833999	19	2573											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	rs34409589		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr14:105246551C>T	uc001ypk.3	-	2	603	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_uc001ypl.3_Missense_Mutation_p.E17K|AKT1_uc010axa.3_Missense_Mutation_p.E17K|AKT1_uc001ypm.3_Missense_Mutation_p.E17K|AKT1_uc001ypn.3_Missense_Mutation_p.E17K|AKT1_uc010tyk.2_5'Flank	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(255)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"								17	33					0	0	1	0	0	T	105246551	C	T	105246551	3	4	149	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		105246551	2102989	20	2574											
C15orf55	256646	broad.mit.edu	37	chr15	34649404	34649404	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaccaagggagcatcccctCagtcctcaccatgcctcagg	8	17	4	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:34649404C>T	uc010ucc.2	+	7	3577	c.3195C>T	c.(3193-3195)ctC>ctT	p.L1065L	C15orf55_uc010ucd.2_Silent_p.L1055L|C15orf55_uc001zif.3_Silent_p.L1037L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	1037						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGCATCCCCTCAGTCCTCACC	0.532			T	"BRD3, BRD4"	lethal midline carcinoma								48	64					0	0	1	0	0	T	34649404	C	T	34649404	2	4	149	1	0	0	0	0	0	0	0	1	1803	813	29	2		2	C15orf55	15	34649404	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		34649404	67881988	21	2575											
CHD2	1106	broad.mit.edu	37	chr15	93567883	93567883	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggtctcctttggagagatCactagaacagaaaaacaacc	8	9	2	3			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:93567883C>T	uc002bsp.3	+	38	6010	c.5435C>T	c.(5434-5436)tCa>tTa	p.S1812L		NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1812					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTGGAGAGATCACTAGAACAG	0.463													6	105					0	0	1	0	0	T	93567883	C	T	93567883	3	4	149	1	0	0	0	0	1	0	0	0	3325	838	29	2	5589	2	CHD2	15	93567883	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	58918479	93567883	8963509	22	2576											
DNAJA2	10294	broad.mit.edu	37	chr16	46998681	46998681	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttaatcaccttcttcccttCacattttttacagcggtctt	3	12	4	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr16:46998681C>T	uc002eeo.2	-	5	758	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	206					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTCTTCCCTTCACATTTTTTA	0.383													48	78					0	0	1	0	0	T	46998681	C	T	46998681	3	4	149	1	0	0	0	0	1	0	0	0	4612	835	29	2	638	2	DNAJA2	16	46998681	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		46998681	43356072	23	2577											
PPM1D	8493	broad.mit.edu	37	chr17	58740540	58740544	+	Frame_Shift_Del	DEL	TGACT	TGACT	-													agaaaattgcgctaaagcccTgactttaaggatacatgatt							TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr17:58740540_58740544delTGACT	uc002iyt.2	+	5	1677_1681	c.1445_1449delTGACT	c.(1444-1449)ctgactfs	p.L482fs	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	482					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.A481V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GCTAAAGCCCTGACTTTAAGGATAC	0.385											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	31	102	---	---	---	---						-	58740544	TGACT	-	58740540	7	5	149	1	0	1	0	1	0	0	0	0	12337	1580	55	0	1467	0	PPM1D	17	58740540	Frame_Shift_Del	DEL	TGACT	TCGA-E8-A418-01A-11D-A23M-08		58740540	22454670	24	2578											
RTTN	25914	broad.mit.edu	37	chr18	67673627	67673627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaactgaccttctgataaTtgtaaatcagagcccaaagg	7	8	2	3			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr18:67673627T>C	uc002lkp.2	-	46	6583	c.6515A>G	c.(6514-6516)aAt>aGt	p.N2172S	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.N1260S|RTTN_uc002lkn.2_Missense_Mutation_p.N162S|RTTN_uc010dqp.2_Missense_Mutation_p.N424S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	2172							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTCTGATAATTGTAAATCAG	0.398													48	48					0	0	1	0	0	C	67673627	T	C	67673627	3	2	149	1	0	0	0	0	1	0	0	0	13737	1493	52	3	177	3	RTTN	18	67673627	Missense_Mutation	SNP	T	TCGA-E8-A418-01A-11D-A23M-08		67673627	10403621	25	2579											
DNMT1	1786	broad.mit.edu	37	chr19	10262175	10262175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctctgggatgttatcatCgacttcctcatcgtcatctg	7	12	5	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:10262175C>T	uc010xlc.2	-	23	2344	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N	DNMT1_uc002mng.3_Missense_Mutation_p.D706N|DNMT1_uc002mnh.3_Missense_Mutation_p.D601N|DNMT1_uc010xld.2_Missense_Mutation_p.D706N	NM_001130823	NP_001124295	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 1, mRNA.	706					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ATGTTATCATCGACTTCCTCA	0.488													27	248					0	0	1	0	0	T	10262175	C	T	10262175	3	4	149	1	0	0	0	0	1	0	0	0	4675	884	31	1	2806	1	DNMT1	19	10262175	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		10262175	48866808	26	2580											
RYR1	6261	broad.mit.edu	37	chr19	38976630	38976630	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgcatcatttctcgCccccctgtttcgtggccgct	9	19	2	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:38976630C>G	uc002oit.3	+	33	5465	c.5335C>G	c.(5335-5337)Ccc>Gcc	p.P1779A	RYR1_uc002oiu.3_Missense_Mutation_p.P1779A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1779	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCATTTCTCGCCCCCCTGTTT	0.682													54	71					0	0	1	0	0	G	38976630	C	G	38976630	3	3	149	1	0	0	0	0	1	0	0	0	13768	739	26	4	5469	4	RYR1	19	38976630	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	28714455	38976630	20152353	27	2581											
SPHK2	56848	broad.mit.edu	37	chr19	49132445	49132445	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggggactggggtggggcTggggatgctccgctgtcccc	20	11	0	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49132445T>C	uc002pjw.3	+	4	2263	c.1566T>C	c.(1564-1566)gcT>gcC	p.A522A	SPHK2_uc010xzt.2_Silent_p.A401A|SPHK2_uc002pjt.3_Silent_p.A254A|SPHK2_uc002pjr.3_Silent_p.A460A|SPHK2_uc002pjs.3_Silent_p.A460A|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.A424A	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	460					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity	p.P522S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGTGGGGCTGGGGATGCTC	0.687													88	123					0	0	1	0	0	C	49132445	T	C	49132445	2	2	149	1	0	0	0	0	0	0	0	1	15046	1567	55	3		3	SPHK2	19	49132445	Silent	SNP	T	TCGA-E8-A418-01A-11D-A23M-08	10155815	49132445	9996538	28	2582											
TRPM4	54795	broad.mit.edu	37	chr19	49693561	49693561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctccactcatctacaccCgcctcatcaccttcaggtca	4	20	6	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49693561C>T	uc002pmw.3	+	14	2224	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	TRPM4_uc010emu.3_Missense_Mutation_p.R706C|TRPM4_uc010yak.2_Missense_Mutation_p.R170C|TRPM4_uc002pmx.3_Missense_Mutation_p.R532C|TRPM4_uc010emv.3_Missense_Mutation_p.R591C|TRPM4_uc010yal.2_Missense_Mutation_p.R352C|TRPM4_uc002pmy.3_Missense_Mutation_p.R48C	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	706					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CATCTACACCCGCCTCATCAC	0.597													9	212					0	0	1	0	0	T	49693561	C	T	49693561	3	4	149	1	0	0	0	0	1	0	0	0	16585	652	23	1	2174	1	TRPM4	19	49693561	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	561116	49693561	9435422	29	2583											
ZNF337	26152	broad.mit.edu	37	chr20	25656710	25656710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctcacaatccttgcacAcaaaaggcttctcccctgag	6	15	2	1			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr20:25656710A>G	uc002wva.3	-	3	1736	c.1214T>C	c.(1213-1215)gTg>gCg	p.V405A	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.V373A|ZNF337_uc002wvc.3_Missense_Mutation_p.V405A	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCCTTGCACACAAAAGGCTT	0.488													48	70					0	0	1	0	0	G	25656710	A	G	25656710	3	3	149	1	0	0	0	0	1	0	0	0	17850	159	6	3	1045	3	ZNF337	20	25656710	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08		25656710	37368810	30	2584											
MCHR1	2847	broad.mit.edu	37	chr22	41077325	41077325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaccccatctcttccaCgaagttccggaagccctctg	7	17	2	0			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr22:41077325C>A	uc003ayz.3	+	1	930	c.662C>A	c.(661-663)aCg>aAg	p.T221K	MCHR1_uc003aza.3_Missense_Mutation_p.T110K	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	221					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	p.T221T(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ATCTCTTCCACGAAGTTCCGG	0.587													75	159					0	0	1	0	0	A	41077325	C	A	41077325	3	1	149	1	0	0	0	0	1	0	0	0	9382	536	19	4	668	4	MCHR1	22	41077325	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		41077325	10227241	31	2585											
LMLN	89782	broad.mit.edu	37	chr3	197723067	197723067	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaagcacgaaaacattttGattgtccagttctagaggga	11	6	1	2			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr3:197723067G>A	uc010iar.3	+	9	1091	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	LMLN_uc003fyt.3_Missense_Mutation_p.D305N|LMLN_uc011buo.2_Missense_Mutation_p.D357N|LMLN_uc010ias.3_Missense_Mutation_p.D305N|LMLN_uc003fyu.3_Missense_Mutation_p.D117N	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	357					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AAAACATTTTGATTGTCCAGT	0.368													6	44					0	0	1	0	0	A	197723067	G	A	197723067	3	1	150	1	0	0	0	0	1	0	0	0	8847	1290	45	2	1107	2	LMLN	3	197723067	Missense_Mutation	SNP	G	TCGA-E8-A419-01A-11D-A23M-08		197723067	299363	1	2586											
CCRN4L	25819	broad.mit.edu	37	chr4	139966572	139966572	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaattatccttcagacCacctgtctctagtgtgtgac	6	13	3	2			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr4:139966572C>G	uc003ihl.3	+	2	1433	c.1240C>G	c.(1240-1242)Cac>Gac	p.H414D		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	Homo sapiens CCR4 carbon catabolite repression 4-like (S. cerevisiae) (CCRN4L), mRNA.	414					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TCCTTCAGACCACCTGTCTCT	0.383													25	73					0	0	1	0	0	G	139966572	C	G	139966572	3	3	150	1	0	0	0	0	1	0	0	0	2951	594	21	4	1250	4	CCRN4L	4	139966572	Missense_Mutation	SNP	C	TCGA-E8-A419-01A-11D-A23M-08		139966572	51187704	2	2587											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	62					0	0	1	0	0	T	140453136	A	T	140453136	3	4	150	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A419-01A-11D-A23M-08		140453136	18685527	3	2588											
SHC3	53358	broad.mit.edu	37	chr9	91628470	91628470	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtggctgatactgtcaaaGactctgtcctttgtccggat	11	9	2	2			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr9:91628470G>T	uc004aqf.2	-	11	1984	c.1677C>A	c.(1675-1677)gtC>gtA	p.V559V		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	559	SH2.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TACTGTCAAAGACTCTGTCCT	0.493													10	105					0	0	1	0	0	T	91628470	G	T	91628470	2	4	150	1	0	0	0	0	0	0	0	1	14272	929	33	4		4	SHC3	9	91628470	Silent	SNP	G	TCGA-E8-A419-01A-11D-A23M-08		91628470	49584961	4	2589											
MLL	4297	broad.mit.edu	37	chr11	118379887	118379887	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagttcaggtgacccaAaatccagcaaatgaacaaga	9	10	1	3			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr11:118379887A>C	uc001ptb.3	+	28	10895	c.10872A>C	c.(10870-10872)caA>caC	p.Q3624H	MLL_uc001pta.3_Missense_Mutation_p.Q3621H	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.	3621					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGGTGACCCAAAATCCAGCAA	0.368			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								4	38					0	0	1	0	0	C	118379887	A	C	118379887	3	2	150	1	0	0	0	0	1	0	0	0	9620	11	1	5	10977	5	MLL	11	118379887	Missense_Mutation	SNP	A	TCGA-E8-A419-01A-11D-A23M-08		118379887	16626629	5	2590											
CNTNAP4	85445	broad.mit.edu	37	chr16	76495940	76495940	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtggacggccagatggCttctgctgctcctctgctgg	16	12	2	1			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr16:76495940C>G	uc002fex.1	+	7	1569	c.1430C>G	c.(1429-1431)gCt>gGt	p.A477G	CNTNAP4_uc002feu.1_Missense_Mutation_p.A473G|CNTNAP4_uc002fev.1_Missense_Mutation_p.A338G|CNTNAP4_uc010chb.1_Missense_Mutation_p.A401G|CNTNAP4_uc002few.2_Missense_Mutation_p.A449G	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	474	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGCCAGATGGCTTCTGCTGCT	0.488													7	60					0	0	1	0	0	G	76495940	C	G	76495940	3	3	150	1	0	0	0	0	1	0	0	0	3649	797	28	4	1468	4	CNTNAP4	16	76495940	Missense_Mutation	SNP	C	TCGA-E8-A419-01A-11D-A23M-08		76495940	13858813	6	2591											
ZNF223	7766	broad.mit.edu	37	chr19	44564909	44564909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtttacagggcatcaAccattccaccgagatacttt	6	12	1	1			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr19:44564909A>G	uc002oyf.1	+	3	403	c.150A>G	c.(148-150)caA>caG	p.Q50Q	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CAGGGCATCAACCATTCCACC	0.408													68	173					0	0	1	0	0	G	44564909	A	G	44564909	2	3	150	1	0	0	0	0	0	0	0	1	17774	40	2	3		3	ZNF223	19	44564909	Silent	SNP	A	TCGA-E8-A419-01A-11D-A23M-08		44564909	14564074	7	2592											
ASAP2	8853	broad.mit.edu	37	chr2	9463376	9463376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccagctacagatgtgCgaggtaaggcggtggtgaag	15	7	1	2			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr2:9463376C>T	uc002qzh.2	+	5	937	c.597C>T	c.(595-597)tgC>tgT	p.C199C	ASAP2_uc002qzi.2_Silent_p.C199C	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	199					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.C199C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TACAGATGTGCGAGGTAAGGC	0.572													57	139					0	0	1	0	0	T	9463376	C	T	9463376	2	4	151	1	0	0	0	0	0	0	0	1	1011	776	27	1		1	ASAP2	2	9463376	Silent	SNP	C	TCGA-E8-A433-01A-11D-A23M-08		9463376	233735997	1	2593											
ANKRD36	375248	broad.mit.edu	37	chr2	97790244	97790246	+	In_Frame_Del	DEL	TTC	TTC	-													tggagaaaaagatatagtcaTtcttcttctgcagcacaata							TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr2:97790244_97790246delTTC	uc010yva.2	+	4	885_887	c.641_643delTTC	c.(640-645)attctt>att	p.L217del	ANKRD36_uc021vlk.1_In_Frame_Del_p.L217del|ANKRD36_uc010yuz.1_Intron|ANKRD36_uc010fic.2_Intron|ANKRD36_uc002sxo.2_In_Frame_Del_p.L217del|ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	217								p.L215I(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GATATAGTCATTCTTCTTCTGCA	0.35													3	3	---	---	---	---						-	97790246	TTC	-	97790244	7	5	151	1	0	1	0	1	0	0	0	0	665	1493	52	0	659	0	ANKRD36	2	97790244	In_Frame_Del	DEL	TTC	TCGA-E8-A433-01A-11D-A23M-08	88326868	97790244	145409129	2	2594											
SF3B1	23451	broad.mit.edu	37	chr2	198299704	198299704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccgcttaccttcgtgaGtcttggcgatcttcgccatt	9	12	2	2			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr2:198299704G>A	uc002uue.3	-	0	68	c.20C>T	c.(19-21)aCt>aTt	p.T7I	SF3B1_uc010fsk.1_Non-coding_Transcript|SF3B1_uc002uuf.3_Missense_Mutation_p.T7I|SF3B1_uc002uug.3_Missense_Mutation_p.T7I	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	7					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACCTTCGTGAGTCTTGGCGAT	0.493			Mis		myelodysplastic syndrome								23	51					0	0	1	0	0	A	198299704	G	A	198299704	3	1	151	1	0	0	0	0	1	0	0	0	14149	1029	36	2	4018	2	SF3B1	2	198299704	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08	100509460	198299704	44899669	3	2595											
PCDHAC2	56134	broad.mit.edu	37	chr5	140208982	140208982	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgggggctcgccttcgctgTgggccaccgccagcttgtct	14	15	1	0			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr5:140208982T>A	uc003lho.2	+	0	1333	c.1306T>A	c.(1306-1308)Tgg>Agg	p.W436R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.W436R|PCDHAC2_uc011dab.2_Missense_Mutation_p.W436R	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	450	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTCGCTGTGGGCCACCGC	0.622													79	123					0	0	1	0	0	A	140208982	T	A	140208982	3	1	151	1	0	0	0	0	1	0	0	0	11533	1696	59	5		5	PCDHAC2	5	140208982	Missense_Mutation	SNP	T	TCGA-E8-A433-01A-11D-A23M-08		140208982	40706278	4	2596											
TFAP2B	7021	broad.mit.edu	37	chr6	50796357	50796357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatgccaataacagcgGcatgaatctattggaccagt	10	8	1	3			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr6:50796357G>A	uc003pag.3	+	2	732	c.566G>A	c.(565-567)gGc>gAc	p.G189D		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	189					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATAACAGCGGCATGAATCTA	0.333													5	111					0	0	1	0	0	A	50796357	G	A	50796357	3	1	151	1	0	0	0	0	1	0	0	0	15785	1203	42	2	576	2	TFAP2B	6	50796357	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08		50796357	120318710	5	2597											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				43	75					0	0	1	0	0	T	140453136	A	T	140453136	3	4	151	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A433-01A-11D-A23M-08		140453136	18685527	6	2598											
LYN	4067	broad.mit.edu	37	chr8	56866442	56866442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcttgtattagtcccaAgccacagaagccatgggata	11	9	0	1			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr8:56866442A>G	uc003xsk.4	+	7	971	c.689A>G	c.(688-690)aAg>aGg	p.K230R	LYN_uc003xsl.4_Missense_Mutation_p.K209R	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	230					T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATTAGTCCCAAGCCACAGAAG	0.478													28	48					0	0	1	0	0	G	56866442	A	G	56866442	3	3	151	1	0	0	0	0	1	0	0	0	9107	72	3	3	715	3	LYN	8	56866442	Missense_Mutation	SNP	A	TCGA-E8-A433-01A-11D-A23M-08		56866442	89497580	7	2599											
ADAM12	8038	broad.mit.edu	37	chr10	127843851	127843851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagatagtgggtttccGtgaaactgctggcaatgaga	13	7	0	3			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr10:127843851G>A	uc001ljk.2	-	3	697	c.284C>T	c.(283-285)aCg>aTg	p.T95M	ADAM12_uc010qul.1_Missense_Mutation_p.T95M|ADAM12_uc001ljm.3_Missense_Mutation_p.T95M|ADAM12_uc001ljn.3_Missense_Mutation_p.T95M|ADAM12_uc001ljl.4_Missense_Mutation_p.T95M	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	95					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.T95T(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTGGGTTTCCGTGAAACTGCT	0.433													46	84					0	0	1	0	0	A	127843851	G	A	127843851	3	1	151	1	0	0	0	0	1	0	0	0	236	1145	40	1	2633	1	ADAM12	10	127843851	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08		127843851	7690896	8	2600											
MMP13	4322	broad.mit.edu	37	chr11	102819790	102819790	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtcatgagaagggtgctCatatgcagcatcaatacggt	13	7	3	1			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr11:102819790C>T	uc001phl.3	-	6	1044	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	339	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAAGGGTGCTCATATGCAGCA	0.488													25	66					0	0	1	0	0	T	102819790	C	T	102819790	3	4	151	1	0	0	0	0	1	0	0	0	9652	835	29	2	416	2	MMP13	11	102819790	Missense_Mutation	SNP	C	TCGA-E8-A433-01A-11D-A23M-08		102819790	32186726	9	2601											
SIAE	54414	broad.mit.edu	37	chr11	124539274	124539274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttcacactggtcacttTcttcatgatggtttcctgac	6	12	4	2			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr11:124539274T>C	uc001qan.3	-	1	384	c.211A>G	c.(211-213)Aaa>Gaa	p.K71E	SIAE_uc021qru.1_Missense_Mutation_p.K36E|SIAE_uc001qao.2_Missense_Mutation_p.K71E	NM_170601	NP_001186851	Q9HAT2	SIAE_HUMAN	Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA.	71			K -> R (in dbSNP:rs12282107).			extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CTGGTCACTTTCTTCATGATG	0.532											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	64					0	0	1	0	0	C	124539274	T	C	124539274	3	2	151	1	0	0	0	0	1	0	0	0	14298	1792	62	3	1396	3	SIAE	11	124539274	Missense_Mutation	SNP	T	TCGA-E8-A433-01A-11D-A23M-08	21719484	124539274	10467242	10	2602											
RARA	5914	broad.mit.edu	37	chr17	38508725	38508726	+	Frame_Shift_Ins	INS	-	-	A													ctcaccatcgccgaccagatINScaccctcctcaaggctgcct							TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr17:38508725_38508726insA	uc021txb.1	+	4	1135_1136	c.773_774insA	c.(772-774)atcfs	p.I258fs	RARA_uc002huk.2_Frame_Shift_Ins_p.I258fs|RARA_uc002hul.4_Frame_Shift_Ins_p.I258fs|RARA_uc010wfe.2_Frame_Shift_Ins_p.I161fs|RARA_uc002hun.2_Frame_Shift_Ins_p.I253fs	NM_001145301	NP_001138773	P10276	RARA_HUMAN	Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	258	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of T-helper 2 cell differentiation|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCCGACCAGATCACCCTCCTCA	0.604			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL								17	39	---	---	---	---						A	38508726	-	A	38508725	7	5	151	1	0	1	1	0	0	0	0	0	13052	1435	50	0	958	0	RARA	17	38508725	Frame_Shift_Ins	INS	-	TCGA-E8-A433-01A-11D-A23M-08		38508725	42686485	11	2603											
SNRNP70	6625	broad.mit.edu	37	chr19	49610890	49610890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgccccaggaggaggcCtcggtggtaccagaagagga	16	12	0	2			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr19:49610890C>T	uc002pmk.3	+	8	1025	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript|SNRNP70_uc021uxh.1_5'UTR	NM_003089	NP_003080	P08621	RU17_HUMAN	Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.	196					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						AGGAGGAGGCCTCGGTGGTAC	0.622													24	46					0	0	1	0	0	T	49610890	C	T	49610890	3	4	151	1	0	0	0	0	1	0	0	0	14858	681	24	2	616	2	SNRNP70	19	49610890	Missense_Mutation	SNP	C	TCGA-E8-A433-01A-11D-A23M-08		49610890	9518093	12	2604											
CSMD2	114784	broad.mit.edu	37	chr1	34087848	34087848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctggttggaggtgctgtTcagaagggcaggcacggttg	19	6	1	1			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:34087848T>C	uc001bxm.1	-	36	5923	c.5746A>G	c.(5746-5748)Aac>Gac	p.N1916D	CSMD2_uc001bxn.1_Missense_Mutation_p.N1876D|CSMD2_uc001bxo.1_Missense_Mutation_p.N789D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1876	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGTGCTGTTCAGAAGGGCA	0.512													10	43					0	0	1	0	0	C	34087848	T	C	34087848	3	2	152	1	0	0	0	0	1	0	0	0	3945	1783	62	3	4969	3	CSMD2	1	34087848	Missense_Mutation	SNP	T	TCGA-E8-A436-01A-12D-A23U-08		34087848	215162773	1	2605											
FAAH	2166	broad.mit.edu	37	chr1	46867852	46867852	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagagctggcccctgaggcCgtgctcttcacctatgtggg	14	12	2	2			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:46867852C>G	uc001cpu.2	+	1	367	c.285C>G	c.(283-285)gcC>gcG	p.A95A		NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	95					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CCCCTGAGGCCGTGCTCTTCA	0.632													3	5					0	0	1	0	0	G	46867852	C	G	46867852	2	3	152	1	0	0	0	0	0	0	0	1	5353	639	23	4		4	FAAH	1	46867852	Silent	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	12780004	46867852	202382769	2	2606											
WLS	79971	broad.mit.edu	37	chr1	68619274	68619274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accataatgatgaagatgctGggcgtaaggaaggtcttcat	12	6	2	3			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:68619274G>A	uc001dee.3	-	4	1025	c.723C>T	c.(721-723)ccC>ccT	p.P241P	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.P243P|WLS_uc001deg.2_Silent_p.P152P|WLS_uc009wbf.1_Silent_p.P198P|WLS_uc021oor.1_Silent_p.P198P	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	243					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGAAGATGCTGGGCGTAAGGA	0.483													9	20					0	0	1	0	0	A	68619274	G	A	68619274	2	1	152	1	0	0	0	0	0	0	0	1	17373	1335	47	2		2	WLS	1	68619274	Silent	SNP	G	TCGA-E8-A436-01A-12D-A23U-08	21751422	68619274	180631347	3	2607											
RGL1	23179	broad.mit.edu	37	chr1	183849863	183849863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatctcacacggatgatgcCgggctctgacccagaaagaa	10	11	2	4			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:183849863C>T	uc001gqm.3	+	5	1105	c.644C>T	c.(643-645)cCg>cTg	p.P215L	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.P178L|RGL1_uc010poh.2_Missense_Mutation_p.P178L|RGL1_uc001gqo.3_Missense_Mutation_p.P180L|RGL1_uc010poi.2_Missense_Mutation_p.P180L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	180					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CGGATGATGCCGGGCTCTGAC	0.488													7	39					0	0	1	0	0	T	183849863	C	T	183849863	3	4	152	1	0	0	0	0	1	0	0	0	13276	652	23	1	662	1	RGL1	1	183849863	Missense_Mutation	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	115230589	183849863	65400758	4	2608											
P4HTM	54681	broad.mit.edu	37	chr3	49042565	49042565	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agccctgcactgtgggcgtgCcccttggcatggggccagga	16	13	0	0			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr3:49042565C>G	uc003cvh.3	+	5	1508	c.1159C>G	c.(1159-1161)Ccc>Gcc	p.P387A	P4HTM_uc003cvg.3_Intron|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	0	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGTGGGCGTGCCCCTTGGCAT	0.597													9	38					0	0	1	0	0	G	49042565	C	G	49042565	3	3	152	1	0	0	0	0	1	0	0	0	11360	739	26	4	1181	4	P4HTM	3	49042565	Missense_Mutation	SNP	C	TCGA-E8-A436-01A-12D-A23U-08		49042565	148979865	5	2609											
MKRN1	23608	broad.mit.edu	37	chr7	140155658	140155658	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctccacccagtactcactTggaatgacaaagttagatgt	7	11	1	2			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr7:140155658T>A	uc003vvt.2	-	5	1254	c.1029A>T	c.(1027-1029)ccA>ccT	p.P343P	MKRN1_uc003vvs.2_Silent_p.P279P|MKRN1_uc011krd.1_Silent_p.P77P	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	343							ligase activity|nucleic acid binding|protein binding|zinc ion binding	p.I342T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AGTACTCACTTGGAATGACAA	0.468													7	24					0	0	1	0	0	A	140155658	T	A	140155658	2	1	152	1	0	0	0	0	0	0	0	1	9606	1799	63	5		5	MKRN1	7	140155658	Silent	SNP	T	TCGA-E8-A436-01A-12D-A23U-08		140155658	18983005	6	2610											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	20					0	0	1	0	0	T	140453136	A	T	140453136	3	4	152	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A436-01A-12D-A23U-08	297478	140453136	18685527	7	2611											
DRD4	1815	broad.mit.edu	37	chr11	639536	639536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcaacctgtgcgccatcaGcgtggacaggtgcgccgccc	12	16	2	0			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr11:639536G>T	uc001lqp.2	+	1	389	c.389G>T	c.(388-390)aGc>aTc	p.S130I		NM_000797	NP_000788	P21917	DRD4_HUMAN	Homo sapiens dopamine receptor D4 (DRD4), mRNA.	130					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	SH3 domain binding|dopamine D4 receptor activity|drug binding|potassium channel regulator activity			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	TGCGCCATCAGCGTGGACAGG	0.776													7	28					0	0	1	0	0	T	639536	G	T	639536	3	4	152	1	0	0	0	0	1	0	0	0	4759	971	34	4	395	4	DRD4	11	639536	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		639536	134366980	8	2612											
OR5L1	219437	broad.mit.edu	37	chr11	55579597	55579597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatcctcacctcctacCtgctaattctcaccaccatc	2	18	3	1			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr11:55579597C>A	uc001nhw.1	+	0	655	c.655C>A	c.(655-657)Ctg>Atg	p.L219M		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACCTCCTACCTGCTAATTCT	0.502													21	63					0	0	1	0	0	A	55579597	C	A	55579597	3	1	152	1	0	0	0	0	1	0	0	0	11170	680	24	4	657	4	OR5L1	11	55579597	Missense_Mutation	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	54940061	55579597	79426919	9	2613											
ADAMTS20	80070	broad.mit.edu	37	chr12	43826126	43826126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctccattcactagcaGcccaactgggacaggaaaat	8	14	1	0			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr12:43826126G>A	uc010skx.2	-	20	3077	c.3077C>T	c.(3076-3078)gCt>gTt	p.A1026V	ADAMTS20_uc001rno.1_Missense_Mutation_p.A180V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.A180V	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1026	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCACTAGCAGCCCAACTGGG	0.378													3	25					0	0	1	0	0	A	43826126	G	A	43826126	3	1	152	1	0	0	0	0	1	0	0	0	266	971	34	2	2730	2	ADAMTS20	12	43826126	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		43826126	90025769	10	2614											
AK7	122481	broad.mit.edu	37	chr14	96887171	96887171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataataggaggattctgagGttccattcactgaagaagat	10	5	2	4			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr14:96887171G>A	uc001yfn.2	+	4	555	c.511G>A	c.(511-513)Gtt>Att	p.V171I		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	171					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGATTCTGAGGTTCCATTCAC	0.343													5	9					0	0	1	0	0	A	96887171	G	A	96887171	3	1	152	1	0	0	0	0	1	0	0	0	444	1261	44	2	529	2	AK7	14	96887171	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		96887171	10462369	11	2615											
FUK	197258	broad.mit.edu	37	chr16	70500883	70500883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagactacctgggactgCcttccttcgtcacagccaca	8	16	1	1			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr16:70500883C>T	uc010vmb.1	+	4	517	c.459C>T	c.(457-459)tgC>tgT	p.C153C	FUK_uc002eyy.3_Intron|FUK_uc010cft.3_Intron|FUK_uc002eyz.3_Intron			Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	609						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGGGACTGCCTTCCTTCGT	0.647													7	35					0	0	1	0	0	T	70500883	C	T	70500883	2	4	152	1	0	0	0	0	0	0	0	1	6096	754	26	2		2	FUK	16	70500883	Silent	SNP	C	TCGA-E8-A436-01A-12D-A23U-08		70500883	19853870	12	2616											
LRRC4B	94030	broad.mit.edu	37	chr19	51022055	51022055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttgtggttgaggtgcacGcgctcgaggcggtgcagggg	22	7	0	1			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr19:51022055G>A	uc002pss.3	-	2	1052	c.915C>T	c.(913-915)cgC>cgT	p.R305R		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	305						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGAGGTGCACGCGCTCGAGGC	0.642													13	107					0	0	1	0	0	A	51022055	G	A	51022055	2	1	152	1	0	0	0	0	0	0	0	1	9007	1074	38	1		1	LRRC4B	19	51022055	Silent	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		51022055	8106928	13	2617											
TRPM2	7226	broad.mit.edu	37	chr21	45819240	45819240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaactgctcacccgcgtGtccgaggcctgggggaagac	14	13	1	2			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr21:45819240G>A	uc010gpt.1	+	13	2224	c.2124G>A	c.(2122-2124)gtG>gtA	p.V708V	TRPM2_uc002zet.1_Silent_p.V708V|TRPM2_uc002zeu.1_Silent_p.V708V|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.V708V|TRPM2_uc002zex.1_Silent_p.V494V|TRPM2_uc002zey.1_Silent_p.V221V	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	708						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCACCCGCGTGTCCGAGGCCT	0.632													14	73					0	0	1	0	0	A	45819240	G	A	45819240	2	1	152	1	0	0	0	0	0	0	0	1	16583	1364	48	2		2	TRPM2	21	45819240	Silent	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		45819240	2310655	14	2618											
ITGAV	3685	broad.mit.edu	37	chr2	187541588	187541588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccagcgcccatgcctgtgCctgtgtgggtgatcatttta	12	11	1	1			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr2:187541588C>A	uc002upq.3	+	28	3253	c.2977C>A	c.(2977-2979)Cct>Act	p.P993T	ITGAV_uc010frs.3_Missense_Mutation_p.P957T|ITGAV_uc010zfv.2_Missense_Mutation_p.P947T	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	993					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CATGCCTGTGCCTGTGTGGGT	0.423													25	62					0	0	1	0	0	A	187541588	C	A	187541588	3	1	153	1	0	0	0	0	1	0	0	0	7888	739	26	4	3142	4	ITGAV	2	187541588	Missense_Mutation	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		187541588	55657785	1	2619											
CLK1	1195	broad.mit.edu	37	chr2	201718131	201718131	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacattttctgaatgaggtcAaagagacgctcatgttcaac	8	8	4	3			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr2:201718131A>G	uc010zhi.1	-	12	1814	c.1479T>C	c.(1477-1479)ttT>ttC	p.F493F	CLK1_uc002uwe.2_Silent_p.F451F|CLK1_uc002uwf.2_Silent_p.F225F|CLK1_uc002uwg.2_Silent_p.F300F	NM_001162407	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 2, mRNA.	451					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GAATGAGGTCAAAGAGACGCT	0.363													14	28					0	0	1	0	0	G	201718131	A	G	201718131	2	3	153	1	0	0	0	0	0	0	0	1	3536	127	5	3		3	CLK1	2	201718131	Silent	SNP	A	TCGA-E8-A437-01A-12D-A23U-08	14176543	201718131	41481242	2	2620											
PGK2	5232	broad.mit.edu	37	chr6	49754598	49754598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctttctccacttctgcGcctacacagtccttcaggaa	7	15	3	0			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr6:49754598G>A	uc003ozu.3	-	0	456	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	101					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCACTTCTGCGCCTACACAGT	0.522													14	100					0	0	1	0	0	A	49754598	G	A	49754598	2	1	153	1	0	0	0	0	0	0	0	1	11791	1074	38	1		1	PGK2	6	49754598	Silent	SNP	G	TCGA-E8-A437-01A-12D-A23U-08		49754598	121360469	3	2621											
BRAF	673	broad.mit.edu	37	chr7	140453135	140453136	+	Missense_Mutation	DNP	CA	CA	TT													gacccactccatcgagatttCactgtagctagaccaaaatc					rs121913377		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr7:140453135_140453136CA>TT	uc003vwc.4	-	14	1860_1861	c.1799_1800TG>AA	c.(1798-1800)gtg>gAA	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.V600V(2)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATCGAGATTTCACTGTAGCTAG	0.371	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	39					0	0	1	0	0	TT	140453136	CA	TT	140453135	3	4	153	1	0	0	0	0	1	0	0	0	1496	813	29	2	516	2	BRAF	7	140453135	Missense_Mutation	DNP	CA	TCGA-E8-A437-01A-12D-A23U-08		140453135	18685528	4	2622											
GFI1B	8328	broad.mit.edu	37	chr9	135865148	135865148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgcagcttcgagtgccGcatgtgcggcaaggccttca	15	12	1	0			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr9:135865148G>A	uc004ccg.3	+	5	1023	c.668G>A	c.(667-669)cGc>cAc	p.R223H	GFI1B_uc010mzy.3_Missense_Mutation_p.R177H	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	223	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.R223F(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TTCGAGTGCCGCATGTGCGGC	0.677													3	29					0	0	1	0	0	A	135865148	G	A	135865148	3	1	153	1	0	0	0	0	1	0	0	0	6340	1087	38	1	686	1	GFI1B	9	135865148	Missense_Mutation	SNP	G	TCGA-E8-A437-01A-12D-A23U-08		135865148	5348283	5	2623											
SLIT1	6585	broad.mit.edu	37	chr10	98806446	98806446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaccccggaacatgccGctccggatggactccagctg	11	16	0	1			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr10:98806446G>A	uc001kmw.2	-	17	2070	c.1818C>T	c.(1816-1818)agC>agT	p.S606S	SLIT1_uc009xvh.1_Silent_p.S616S	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	606					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGAACATGCCGCTCCGGATGG	0.617													14	23					0	0	1	0	0	A	98806446	G	A	98806446	2	1	153	1	0	0	0	0	0	0	0	1	14739	1078	38	1		1	SLIT1	10	98806446	Silent	SNP	G	TCGA-E8-A437-01A-12D-A23U-08		98806446	36728301	6	2624											
RSF1	51773	broad.mit.edu	37	chr11	77412844	77412844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtgatgatatttctgTccttagaggggctatagctc	10	10	1	3			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr11:77412844T>C	uc001oyn.3	-	5	1550	c.1430A>G	c.(1429-1431)gAc>gGc	p.D477G	RSF1_uc001oym.3_Missense_Mutation_p.D225G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	477					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GATATTTCTGTCCTTAGAGGG	0.403													23	51					0	0	1	0	0	C	77412844	T	C	77412844	3	2	153	1	0	0	0	0	1	0	0	0	13699	1667	58	3	2939	3	RSF1	11	77412844	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		77412844	57593672	7	2625											
PDZRN4	29951	broad.mit.edu	37	chr12	41966816	41966816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacacagctgagagctgCagaagtactccgctcactgt	9	12	1	2			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr12:41966816C>T	uc010skn.2	+	9	2243	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C	PDZRN4_uc001rmq.4_Silent_p.C487C|PDZRN4_uc009zjz.3_Silent_p.C485C|PDZRN4_uc001rmr.3_Silent_p.C372C	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	745							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTGAGAGCTGCAGAAGTACTC	0.483													39	60					0	0	1	0	0	T	41966816	C	T	41966816	2	4	153	1	0	0	0	0	0	0	0	1	11710	718	25	2		2	PDZRN4	12	41966816	Silent	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		41966816	91885079	8	2626											
SLC12A6	9990	broad.mit.edu	37	chr15	34549844	34549844	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccagtgcagtacttacaCagcagcagcagataaggaca	11	10	0	1			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr15:34549844C>A	uc001zhw.3	-	5	854	c.690_splice	c.e5+1	p.C230_splice	SLC12A6_uc001zhv.3_Splice_Site_p.C179_splice|SLC12A6_uc001zhz.3_Splice_Site|SLC12A6_uc001zhx.3_Splice_Site_p.C215_splice|SLC12A6_uc001zhy.3_Splice_Site|SLC12A6_uc001zia.3_Splice_Site_p.C171_splice|SLC12A6_uc001zib.3_Splice_Site_p.C221_splice|SLC12A6_uc001zic.3_Splice_Site_p.C230_splice|SLC12A6_uc010bau.3_Splice_Site_p.C230_splice|SLC12A6_uc001zid.3_Splice_Site_p.C171_splice|SLC12A6_uc001zhu.3_Intron	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	230	Poly-Cys.				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGTACTTACACAGCAGCAGCA	0.438													7	17					0	0	1	0	0	A	34549844	C	A	34549844	5	1	153	1	0	0	0	0	0	0	1	0	14387	492	17	4	2847	4	SLC12A6	15	34549844	Splice_Site	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		34549844	67981548	9	2627											
ALPK2	115701	broad.mit.edu	37	chr18	56246284	56246284	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttatcactctgggttAgtgggggctcagcagattct	11	9	5	1			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr18:56246284A>G	uc002lhj.4	-	3	1938	c.1724T>C	c.(1723-1725)cTa>cCa	p.L575P		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	575							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTCTGGGTTAGTGGGGGCTC	0.498											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	63					0	0	1	0	0	G	56246284	A	G	56246284	3	3	153	1	0	0	0	0	1	0	0	0	545	420	15	3	4828	3	ALPK2	18	56246284	Missense_Mutation	SNP	A	TCGA-E8-A437-01A-12D-A23U-08		56246284	21830964	10	2628											
ZNF573	126231	broad.mit.edu	37	chr19	38230588	38230588	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatatggtttttcgccagtaTgaactctctgatgaattcta	7	7	2	3			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:38230588T>A	uc002ohe.3	-	4	872	c.803A>T	c.(802-804)cAt>cTt	p.H268L	ZNF573_uc010efs.2_Missense_Mutation_p.H181L|ZNF573_uc002ohd.3_Missense_Mutation_p.H266L|ZNF573_uc002ohf.3_Missense_Mutation_p.H210L|ZNF573_uc002ohg.3_Missense_Mutation_p.H180L|ZNF573_uc021utv.1_Missense_Mutation_p.H180L	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTCGCCAGTATGAACTCTCTG	0.433													37	68					0	0	1	0	0	A	38230588	T	A	38230588	3	1	153	1	0	0	0	0	1	0	0	0	18002	1464	51	5	1198	5	ZNF573	19	38230588	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		38230588	20898395	11	2629											
VSTM1	284415	broad.mit.edu	37	chr19	54545172	54545172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcccctgtcccttaccgGcagcctcctgctccggaagt	8	18	0	0			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:54545172G>A	uc002qcw.4	-	6	727	c.551C>T	c.(550-552)gCc>gTc	p.A184V	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.A96V|VSTM1_uc002qcx.4_Missense_Mutation_p.A153V|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.A64V	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	184						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCCCTTACCGGCAGCCTCCTG	0.478													3	45					0	0	1	0	0	A	54545172	G	A	54545172	3	1	153	1	0	0	0	0	1	0	0	0	17225	1203	42	2	171	2	VSTM1	19	54545172	Missense_Mutation	SNP	G	TCGA-E8-A437-01A-12D-A23U-08	16314584	54545172	4583811	12	2630											
ITPA	3704	broad.mit.edu	37	chr20	3204049	3204049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcggagaagaacgctgtcTcccatcgcttccgggccctg	13	14	1	2			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr20:3204049T>G	uc002wid.3	+	7	668	c.526T>G	c.(526-528)Tcc>Gcc	p.S176A	ITPA_uc002wie.3_Missense_Mutation_p.S159A|ITPA_uc002wif.3_Non-coding_Transcript	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.	176					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						GAACGCTGTCTCCCATCGCTT	0.617													7	28					0	0	1	0	0	G	3204049	T	G	3204049	3	3	153	1	0	0	0	0	1	0	0	0	7915	1551	54	5	556	5	ITPA	20	3204049	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		3204049	59821471	13	2631											
BEND2	139105	broad.mit.edu	37	chrX	18234789	18234789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgctgtttcagaaacTtccaccatctcaatactgca	4	12	3	1			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:18234789T>A	uc004cyj.4	-	1	244	c.90A>T	c.(88-90)gaA>gaT	p.E30D	BEND2_uc010nfb.2_Missense_Mutation_p.E30D	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	30										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTCAGAAACTTCCACCATCT	0.358													6	51					0	0	1	0	0	A	18234789	T	A	18234789	3	1	153	1	0	0	0	0	1	0	0	0	1398	1606	56	5	2387	5	BEND2	23	18234789	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		18234789	137035771	14	2632											
SYTL5	94122	broad.mit.edu	37	chrX	37931394	37931394	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcactgatgttgtccgacagTccattttaagaagaagtcca	9	9	0	3			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:37931394T>A	uc004ddx.3	+	2	780	c.424T>A	c.(424-426)Tcc>Acc	p.S142T	SYTL5_uc004ddu.3_Missense_Mutation_p.S142T|SYTL5_uc004ddv.3_Missense_Mutation_p.S142T	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	142					intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGTCCGACAGTCCATTTTAAG	0.373													8	71					0	0	1	0	0	A	37931394	T	A	37931394	3	1	153	1	0	0	0	0	1	0	0	0	15483	1667	58	5	434	5	SYTL5	23	37931394	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08	19696605	37931394	117339166	15	2633											
ALG13	79868	broad.mit.edu	37	chrX	110951452	110951452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccacgctttttttcCtctccctcttacccccaccc	2	21	3	0			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:110951452C>T	uc011msy.2	+	3	682	c.581C>T	c.(580-582)cCt>cTt	p.P194L	ALG13_uc011msw.2_Missense_Mutation_p.P116L|ALG13_uc011msx.2_Missense_Mutation_p.P90L|ALG13_uc011msz.2_Missense_Mutation_p.P116L|ALG13_uc011mta.2_Missense_Mutation_p.P90L|ALG13_uc011mtb.2_Missense_Mutation_p.P90L	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	194					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						GCTTTTTTTCCTCTCCCTCTT	0.473													6	70					0	0	1	0	0	T	110951452	C	T	110951452	3	4	153	1	0	0	0	0	1	0	0	0	515	681	24	2	737	2	ALG13	23	110951452	Missense_Mutation	SNP	C	TCGA-E8-A437-01A-12D-A23U-08	73020058	110951452	44319108	16	2634											
DISP1	84976	broad.mit.edu	37	chr1	223176363	223176363	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taatcagttctttgattgttTcctattttctctatcgtgta	5	7	3	1			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:223176363T>G	uc001hnu.2	+	9	1950	c.1624T>G	c.(1624-1626)Tcc>Gcc	p.S542A		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	542	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTGATTGTTTCCTATTTTCT	0.353													21	43					0	0	1	0	0	G	223176363	T	G	223176363	3	3	154	1	0	0	0	0	1	0	0	0	4539	1783	62	5	1650	5	DISP1	1	223176363	Missense_Mutation	SNP	T	TCGA-E8-A44K-01A-21D-A23U-08		223176363	26074258	1	2635											
GNPAT	8443	broad.mit.edu	37	chr1	231411174	231411174	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaatgttatgatgtaTtatcttctgatgtgcagaaa	7	7	3	3			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:231411174T>A	uc001hup.4	+	13	2073	c.1867T>A	c.(1867-1869)Tta>Ata	p.L623I	GNPAT_uc009xfp.3_Missense_Mutation_p.L562I	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	623					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.L623V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTATGATGTATTATCTTCTGA	0.428													4	61					0	0	1	0	0	A	231411174	T	A	231411174	3	1	154	1	0	0	0	0	1	0	0	0	6541	1490	52	5	1921	5	GNPAT	1	231411174	Missense_Mutation	SNP	T	TCGA-E8-A44K-01A-21D-A23U-08	8234811	231411174	17839447	2	2636											
ADCK2	90956	broad.mit.edu	37	chr7	140394532	140394532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggggcttggccgctcaCtggaccccaaactggacatc	13	13	1	0			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr7:140394532C>T	uc003vvy.1	+	7	1988	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	ADCK2_uc003vvz.3_Intron|NDUFB2_uc003vwa.3_5'Flank|NDUFB2_uc010lnl.3_5'Flank	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	604	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGGCCGCTCACTGGACCCCAA	0.582													19	44					0	0	1	0	0	T	140394532	C	T	140394532	2	4	154	1	0	0	0	0	0	0	0	1	289	564	20	2		2	ADCK2	7	140394532	Silent	SNP	C	TCGA-E8-A44K-01A-21D-A23U-08		140394532	18744131	3	2637											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				21	42					0	0	1	0	0	T	140453136	A	T	140453136	3	4	154	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A44K-01A-21D-A23U-08	58604	140453136	18685527	4	2638											
BNC2	54796	broad.mit.edu	37	chr9	16435992	16435992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccttccatggattcctcgcCcagtttgggctccgaagact	9	15	0	1			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr9:16435992C>A	uc003zml.3	-	5	2340	c.2200G>T	c.(2200-2202)Ggc>Tgc	p.G734C	BNC2_uc011lmw.2_Missense_Mutation_p.G639C|BNC2_uc003zmm.3_Missense_Mutation_p.G692C|BNC2_uc003zmq.1_Missense_Mutation_p.G748C|BNC2_uc003zmr.1_Missense_Mutation_p.G771C|BNC2_uc003zmp.1_Missense_Mutation_p.G762C|BNC2_uc010mij.1_Missense_Mutation_p.G656C|BNC2_uc011lmv.2_Missense_Mutation_p.G560C|BNC2_uc003zmo.1_Missense_Mutation_p.G656C|BNC2_uc003zmj.3_Missense_Mutation_p.G499C|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.G499C|BNC2_uc003zmn.1_Missense_Mutation_p.G499C	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATTCCTCGCCCAGTTTGGGC	0.512													7	44					0	0	1	0	0	A	16435992	C	A	16435992	3	1	154	1	0	0	0	0	1	0	0	0	1475	623	22	4	1107	4	BNC2	9	16435992	Missense_Mutation	SNP	C	TCGA-E8-A44K-01A-21D-A23U-08		16435992	124777439	5	2639											
FANCG	2189	broad.mit.edu	37	chr9	35079179	35079179	+	Frame_Shift_Del	DEL	T	T	-													tggaggagccctctgagcccTtccagtgcatcctgagccaa							TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr9:35079179delT	uc003zwb.1	-	1	636	c.144delA	c.(142-144)gaafs	p.E48fs	FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Frame_Shift_Del_p.E48fs	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	48					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCTGAGCCCTTCCAGTGCAT	0.582			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					2	4	---	---	---	---						-	35079179	T	-	35079179	7	5	154	1	0	1	0	1	0	0	0	0	5668	1606	56	0	1776	0	FANCG	9	35079179	Frame_Shift_Del	DEL	T	TCGA-E8-A44K-01A-21D-A23U-08	18643187	35079179	106134252	6	2640											
DEAF1	10522	broad.mit.edu	37	chr11	694809	694809	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggggccgggcagggcctcgGcgcccatgtccatgtgcccg	17	16	0	0			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr11:694809G>C	uc001lqq.1	-	0	932	c.239C>G	c.(238-240)gCc>gGc	p.A80G	DEAF1_uc021qbn.1_Missense_Mutation_p.A80G|TMEM80_uc001lqr.3_5'Flank|TMEM80_uc001lqs.3_5'Flank|TMEM80_uc010qwi.1_5'Flank	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	80	Ala-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGGGCCTCGGCGCCCATGTC	0.771													4	1					0	0	1	0	0	C	694809	G	C	694809	3	2	154	1	0	0	0	0	1	0	0	0	4380	1203	42	4	1506	4	DEAF1	11	694809	Missense_Mutation	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08		694809	134311707	7	2641											
HSF5	124535	broad.mit.edu	37	chr17	56557351	56557351	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaccttgttgaacatgTacagatgtggtgctgggctg	15	6	0	3			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr17:56557351T>C	uc002iwi.1	-	1	952	c.828A>G	c.(826-828)gtA>gtG	p.V276V		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S275Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTGAACATGTACAGATGTGG	0.468													37	60					0	0	1	0	0	C	56557351	T	C	56557351	2	2	154	1	0	0	0	0	0	0	0	1	7399	1625	57	3		3	HSF5	17	56557351	Silent	SNP	T	TCGA-E8-A44K-01A-21D-A23U-08		56557351	24637859	8	2642											
RTN2	6253	broad.mit.edu	37	chr19	45998115	45998115	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagttgaatccctgcggccCccggagcccactacaccatc	9	18	0	1			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr19:45998115C>G	uc002pcb.3	-	2	458	c.228G>C	c.(226-228)ggG>ggC	p.G76G	RTN2_uc002pcc.3_Silent_p.G76G|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	76						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCCTGCGGCCCCCGGAGCCCA	0.687													13	20					0	0	1	0	0	G	45998115	C	G	45998115	2	3	154	1	0	0	0	0	0	0	0	1	13726	610	22	4		4	RTN2	19	45998115	Silent	SNP	C	TCGA-E8-A44K-01A-21D-A23U-08		45998115	13130868	9	2643											
ZNF580	51157	broad.mit.edu	37	chr19	56153895	56153895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgctgctgccgccgcgGccaccccaccctcggtcctc	10	21	0	0			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr19:56153895G>A	uc002qlo.3	+	1	191	c.21G>A	c.(19-21)cgG>cgA	p.R7R	ZNF581_uc002qln.3_Intron|ZNF580_uc002qlp.3_Silent_p.R7R|ZNF580_uc010ygd.2_Silent_p.R7R|ZNF581_uc002qlq.3_5'Flank|ZNF581_uc021vcb.1_5'Flank	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	Homo sapiens zinc finger protein 580 (ZNF580), transcript variant 2, mRNA.	7	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCGCCGCGGCCACCCCACC	0.627													3	17					0	0	1	0	0	A	56153895	G	A	56153895	2	1	154	1	0	0	0	0	0	0	0	1	18009	1190	42	2		2	ZNF580	19	56153895	Silent	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08	10155780	56153895	2975088	10	2644											
TRIOBP	11078	broad.mit.edu	37	chr22	38120673	38120673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacatcctgtgcccaacggGacgatcccagagcctcctct	9	16	1	1			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr22:38120673G>A	uc003atr.3	+	6	2381	c.2110G>A	c.(2110-2112)Gac>Aac	p.D704N	TRIOBP_uc003atu.3_Missense_Mutation_p.D532N|TRIOBP_uc003atq.1_Missense_Mutation_p.D704N|TRIOBP_uc003ats.1_Missense_Mutation_p.D532N	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	704					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGCCCAACGGGACGATCCCAG	0.582													13	48					0	0	1	0	0	A	38120673	G	A	38120673	3	1	154	1	0	0	0	0	1	0	0	0	16550	1174	41	2	2128	2	TRIOBP	22	38120673	Missense_Mutation	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08		38120673	13183893	11	2645											
PCYOX1L	78991	broad.mit.edu	37	chr5	148743769	148743769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtcatggagaagttcAtgaggtagggctggcagagc	18	5	2	3			TCGA-E8-A44M-01A-21D-A23U-08	TCGA-E8-A44M-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ddf79b-b624-4341-8727-e72326c80f3d	ad3886e5-6597-41a8-a0b8-533186183119	g.chr5:148743769A>G	uc003lqk.2	+	2	528	c.466A>G	c.(466-468)Atg>Gtg	p.M156V	PCYOX1L_uc003lql.2_Missense_Mutation_p.M139V|PCYOX1L_uc010jgz.2_Missense_Mutation_p.M139V|PCYOX1L_uc003lqm.2_Missense_Mutation_p.M38V|PCYOX1L_uc003lqn.2_Missense_Mutation_p.M66V	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	156					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGTTCATGAGGTAGGG	0.567													4	18					0	0	1	0	0	G	148743769	A	G	148743769	3	3	155	1	0	0	0	0	1	0	0	0	11609	217	8	3	476	3	PCYOX1L	5	148743769	Missense_Mutation	SNP	A	TCGA-E8-A44M-01A-21D-A23U-08		148743769	32171491	1	2646											
GIMAP6	474344	broad.mit.edu	37	chr7	150325517	150325517	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgaggatgctgtttcCtgttgcactcttcccactcc	8	16	1	0			TCGA-E8-A44M-01A-21D-A23U-08	TCGA-E8-A44M-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ddf79b-b624-4341-8727-e72326c80f3d	ad3886e5-6597-41a8-a0b8-533186183119	g.chr7:150325517C>A	uc022apv.1	-	2	859	c.379G>T	c.(379-381)Gga>Tga	p.G127*	GIMAP6_uc003whn.3_Nonsense_Mutation_p.G57*|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	57							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGCTGTTTCCTGTTGCACTC	0.537													53	235					0	0	1	0	0	A	150325517	C	A	150325517	4	1	155	1	0	0	0	0	0	1	0	0	6383	690	24	4	713	4	GIMAP6	7	150325517	Nonsense_Mutation	SNP	C	TCGA-E8-A44M-01A-21D-A23U-08		150325517	8813146	2	2647											
HIVEP3	59269	broad.mit.edu	37	chr1	41979174	41979174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcctccgtgccagaggcGggggcatctgggggctgagg	20	10	1	2	rs141816288		TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr1:41979174G>A	uc001cgz.4	-	7	6931	c.5718C>T	c.(5716-5718)ccC>ccT	p.P1906P	HIVEP3_uc001cha.4_Silent_p.P1906P|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1906					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCCAGAGGCGGGGGCATCTG	0.692													8	7					0	0	1	0	0	A	41979174	G	A	41979174	2	1	156	1	0	0	0	0	0	0	0	1	7188	1103	39	1		1	HIVEP3	1	41979174	Silent	SNP	G	TCGA-EL-A3CL-01A-11D-A19J-08		41979174	207271447	1	2648											
SAMD9L	219285	broad.mit.edu	37	chr7	92760593	92760596	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													aatcctaggtagaaagacacTctttctatgttcctaccact							TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr7:92760593_92760596delTCTT	uc003umh.1	-	4	5905_5908	c.4689_4692delAAGA	c.(4687-4692)gaaagafs	p.E1563fs	SAMD9L_uc003umj.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc022ahh.1_Frame_Shift_Del_p.E1563fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1563										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAAAGACACTCTTTCTATGTTCC	0.343													20	31	---	---	---	---						-	92760596	TCTT	-	92760593	7	5	156	1	0	1	0	1	0	0	0	0	13827	1548	54	0	66	0	SAMD9L	7	92760593	Frame_Shift_Del	DEL	TCTT	TCGA-EL-A3CL-01A-11D-A19J-08		92760593	66378070	2	2649											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	50					0	0	1	0	0	T	140453136	A	T	140453136	3	4	156	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CL-01A-11D-A19J-08	47692543	140453136	18685527	3	2650											
MRPL41	64975	broad.mit.edu	37	chr9	140446894	140446894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaagtacggcttcgagCccacacaggagggaaagctc	13	10	0	0			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr9:140446894C>T	uc004cnh.4	+	1	491	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank|MRPL41_uc022bqj.1_Missense_Mutation_p.P121S	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN	Homo sapiens mitochondrial ribosomal protein L41 (MRPL41), nuclear gene encoding mitochondrial protein, mRNA.	121					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CGGCTTCGAGCCCACACAGGA	0.602													10	26					0	0	1	0	0	T	140446894	C	T	140446894	3	4	156	1	0	0	0	0	1	0	0	0	9805	739	26	2	363	2	MRPL41	9	140446894	Missense_Mutation	SNP	C	TCGA-EL-A3CL-01A-11D-A19J-08		140446894	766537	4	2651											
AKAP6	9472	broad.mit.edu	37	chr14	33291666	33291666	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggcaatatagaaaagacAttcactggcatgcagaatgc	10	7	1	3			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr14:33291666A>G	uc001wrq.3	+	12	4817	c.4647A>G	c.(4645-4647)acA>acG	p.T1549T		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1549					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAGAAAAGACATTCACTGGCA	0.413													8	123					0	0	1	0	0	G	33291666	A	G	33291666	2	3	156	1	0	0	0	0	0	0	0	1	455	204	8	3		3	AKAP6	14	33291666	Silent	SNP	A	TCGA-EL-A3CL-01A-11D-A19J-08		33291666	74057874	5	2652											
ZFHX3	463	broad.mit.edu	37	chr16	72827620	72827621	+	Frame_Shift_Ins	INS	-	-	T													accagacctgaacgactctcINStttggcagtccaatgtcatt							TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr16:72827620_72827621insT	uc002fck.3	-	8	9633_9634	c.8960_8961insA	c.(8959-8961)aagfs	p.K2987fs	ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.K2073fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2987					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAACGACTCTCTTTGGCAGTCC	0.465													44	90	---	---	---	---						T	72827621	-	T	72827620	7	5	156	1	0	1	1	0	0	0	0	0	17631	912	32	0	2158	0	ZFHX3	16	72827620	Frame_Shift_Ins	INS	-	TCGA-EL-A3CL-01A-11D-A19J-08		72827620	17527133	6	2653											
KAT2A	2648	broad.mit.edu	37	chr17	40269530	40269530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggcgtcagtgagttgcCgatgacatggaactcgatga	14	8	1	3			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr17:40269530C>T	uc002hyx.2	-	9	1573	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	505	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGTGAGTTGCCGATGACATGG	0.637													21	29					0	0	1	0	0	T	40269530	C	T	40269530	3	4	156	1	0	0	0	0	1	0	0	0	7981	652	23	1	1036	1	KAT2A	17	40269530	Missense_Mutation	SNP	C	TCGA-EL-A3CL-01A-11D-A19J-08		40269530	40925680	7	2654											
CNN2	1265	broad.mit.edu	37	chr19	1037875	1037875	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgaatatcccccttaCtaccaggaggaggccggcta	10	14	0	1			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr19:1037875C>G	uc010xgc.2	+	6	1332	c.969C>G	c.(967-969)taC>taG	p.Y323*	ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqu.3_Nonsense_Mutation_p.Y302*|CNN2_uc002lqv.3_Nonsense_Mutation_p.Y263*|CNN2_uc010xgb.2_Nonsense_Mutation_p.Y291*|ABCA7_uc010dsa.3_5'Flank	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	302					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCCCCTTACTACCAGGAGG	0.602													27	62					0	0	1	0	0	G	1037875	C	G	1037875	4	3	156	1	0	0	0	0	0	1	0	0	3610	576	20	4	932	4	CNN2	19	1037875	Nonsense_Mutation	SNP	C	TCGA-EL-A3CL-01A-11D-A19J-08		1037875	58091108	8	2655											
GATA5	140628	broad.mit.edu	37	chr20	61039965	61039965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgggggcttggggccGtggaggggaaggcaaagtcc	20	9	0	0			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr20:61039965G>A	uc002ycx.1	-	6	1183	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	Homo sapiens GATA binding protein 5 (GATA5), mRNA.	374					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCTTGGGGCCGTGGAGGGGAA	0.677													3	31					0	0	1	0	0	A	61039965	G	A	61039965	3	1	156	1	0	0	0	0	1	0	0	0	6257	1145	40	1	76	1	GATA5	20	61039965	Missense_Mutation	SNP	G	TCGA-EL-A3CL-01A-11D-A19J-08		61039965	1985555	9	2656											
DSCAM	1826	broad.mit.edu	37	chr21	41711101	41711101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccgagttgttggcagtGcagcggtagactcccccgtc	13	15	0	1			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr21:41711101G>A	uc002yyq.1	-	6	1904	c.1452C>T	c.(1450-1452)tgC>tgT	p.C484C	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	484	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTTGGCAGTGCAGCGGTAGA	0.547													22	44					0	0	1	0	0	A	41711101	G	A	41711101	2	1	156	1	0	0	0	0	0	0	0	1	4768	1311	46	2		2	DSCAM	21	41711101	Silent	SNP	G	TCGA-EL-A3CL-01A-11D-A19J-08		41711101	6418794	10	2657											
IL17RC	84818	broad.mit.edu	37	chr3	9965966	9965966	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagacctggttccctgcctCtgtattcaggtaggagcaga	11	11	2	2			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr3:9965966C>T	uc003bua.3	+	8	1244	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Silent_p.L246L|IL17RC_uc003btz.3_Silent_p.L271L|IL17RC_uc011atp.2_Silent_p.L127L|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Silent_p.L271L|IL17RC_uc010hcu.3_Silent_p.L271L|IL17RC_uc003bub.3_Silent_p.L256L|IL17RC_uc010hcv.3_Silent_p.L256L|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Silent_p.L256L	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	342						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCCCTGCCTCTGTATTCAGG	0.507													3	17					0	0	1	0	0	T	9965966	C	T	9965966	2	4	157	1	0	0	0	0	0	0	0	1	7641	900	32	2		2	IL17RC	3	9965966	Silent	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		9965966	188056464	1	2658											
RAD54L2	23132	broad.mit.edu	37	chr3	51664942	51664942	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcacgggctgtgaaacctCatcaggtacagcaaaccttg	11	11	2	1			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr3:51664942C>A	uc011bdt.2	+	5	945	c.820C>A	c.(820-822)Cat>Aat	p.H274N	RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'UTR|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	274						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGTGAAACCTCATCAGGTACA	0.512													10	26					0	0	1	0	0	A	51664942	C	A	51664942	3	1	157	1	0	0	0	0	1	0	0	0	12994	826	29	4	838	4	RAD54L2	3	51664942	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08	41698976	51664942	146357488	2	2659											
SNX2	6643	broad.mit.edu	37	chr5	122131017	122131017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagatattagtgcaaaCtccaatggcccaaaacccac	7	12	0	2			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr5:122131017C>A	uc003kte.3	+	1	214	c.165C>A	c.(163-165)aaC>aaA	p.N55K	SNX2_uc011cwn.2_5'UTR	NM_003100	NP_003091	O60749	SNX2_HUMAN	Homo sapiens sorting nexin 2 (SNX2), mRNA.	55					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTAGTGCAAACTCCAATGGCC	0.353													4	85					0	0	1	0	0	A	122131017	C	A	122131017	3	1	157	1	0	0	0	0	1	0	0	0	14891	564	20	4	171	4	SNX2	5	122131017	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		122131017	58784243	3	2660											
RIOK1	83732	broad.mit.edu	37	chr6	7393347	7393347	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctagtgaaaacagagacttGaagacagtcaaagagaagga	11	5	2	5			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr6:7393347G>C	uc003mxn.3	+	1	261	c.87G>C	c.(85-87)ttG>ttC	p.L29F	RIOK1_uc003mxm.1_5'UTR	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	29							ATP binding|protein serine/threonine kinase activity	p.L22F(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ACAGAGACTTGAAGACAGTCA	0.333													4	46					0	0	1	0	0	C	7393347	G	C	7393347	3	2	157	1	0	0	0	0	1	0	0	0	13377	1281	45	4	93	4	RIOK1	6	7393347	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		7393347	163721720	4	2661											
SYCP2L	221711	broad.mit.edu	37	chr6	10894210	10894210	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatataatcgtcttctattAtaccgtcttgacagatcaat	4	8	4	2			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr6:10894210A>T	uc003mzo.3	+	2	485	c.189A>T	c.(187-189)ttA>ttT	p.L63F	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	63						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GTCTTCTATTATACCGTCTTG	0.294													7	24					0	0	1	0	0	T	10894210	A	T	10894210	3	4	157	1	0	0	0	0	1	0	0	0	15430	446	16	5	199	5	SYCP2L	6	10894210	Missense_Mutation	SNP	A	TCGA-EL-A3CM-01A-11D-A19J-08	3500863	10894210	160220857	5	2662											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				17	44					0	0	1	0	0	T	140453136	A	T	140453136	3	4	157	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CM-01A-11D-A19J-08		140453136	18685527	6	2663											
SLC35D2	11046	broad.mit.edu	37	chr9	99113432	99113432	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggcaaagacactgaggatGatgttgagtgaatactgctt	12	5	0	5			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr9:99113432G>A	uc004awc.3	-	5	517	c.441C>T	c.(439-441)atC>atT	p.I147I	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.I147I	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	147						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				CACTGAGGATGATGTTGAGTG	0.353													14	23					0	0	1	0	0	A	99113432	G	A	99113432	2	1	157	1	0	0	0	0	0	0	0	1	14582	1280	45	2		2	SLC35D2	9	99113432	Silent	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		99113432	42099999	7	2664											
ABCC2	1244	broad.mit.edu	37	chr10	101558994	101558994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaaaaaaaagaagtctGggaccaaaaaagatgttcca	8	5	1	3			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr10:101558994G>A	uc001kqf.2	+	7	1037	c.898G>A	c.(898-900)Ggg>Agg	p.G300R		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	300						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAAGAAGTCTGGGACCAAAAA	0.418													22	165					0	0	1	0	0	A	101558994	G	A	101558994	3	1	157	1	0	0	0	0	1	0	0	0	53	1348	47	2	928	2	ABCC2	10	101558994	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		101558994	33975753	8	2665											
ABCC8	6833	broad.mit.edu	37	chr11	17432134	17432134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgtcgtcccggagcaGctcaaggatgccggcctgca	12	15	2	0			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr11:17432134G>A	uc001mnc.3	-	21	2749	c.2623C>T	c.(2623-2625)Ctg>Ttg	p.L875L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	875	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCCCGGAGCAGCTCAAGGATG	0.562													6	83					0	0	1	0	0	A	17432134	G	A	17432134	2	1	157	1	0	0	0	0	0	0	0	1	58	962	34	2		2	ABCC8	11	17432134	Silent	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		17432134	117574382	9	2666											
DRAM1	55332	broad.mit.edu	37	chr12	102314992	102314992	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctttcatttttaaaaatAgagtgtcaccctaaggatat	5	7	3	1			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr12:102314992A>G	uc001tix.3	+	7	1136	c.673_splice	c.e7-2	p.S225_splice	DRAM1_uc010svv.2_Splice_Site_p.S115_splice	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA.	225					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TTTTAAAAATAGAGTGTCACC	0.373													6	87					0	0	1	0	0	G	102314992	A	G	102314992	5	3	157	1	0	0	0	0	0	0	1	0	4753	434	15	3	697	3	DRAM1	12	102314992	Splice_Site	SNP	A	TCGA-EL-A3CM-01A-11D-A19J-08		102314992	31536903	10	2667											
CIT	11113	broad.mit.edu	37	chr12	120263094	120263094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtccaggccgtaggtgcCttttccatccccgttcatca	8	15	2	0			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr12:120263094C>T	uc001txj.2	-	7	888	c.832G>A	c.(832-834)Ggc>Agc	p.G278S	CIT_uc001txi.2_Missense_Mutation_p.G278S	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	278	Protein kinase.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCGTAGGTGCCTTTTCCATCC	0.527													6	74					0	0	1	0	0	T	120263094	C	T	120263094	3	4	157	1	0	0	0	0	1	0	0	0	3438	681	24	2	5411	2	CIT	12	120263094	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08	17948102	120263094	13588801	11	2668											
KIF23	9493	broad.mit.edu	37	chr15	69708349	69708349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagagctaagacacccCggaaacctaccgtgaaaaaa	9	12	0	3			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr15:69708349C>T	uc002asb.3	+	1	206	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	KIF23_uc002asc.3_Missense_Mutation_p.R10W|KIF23_uc010bii.3_5'UTR|KIF23_uc010bih.2_Non-coding_Transcript	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	10	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TAAGACACCCCGGAAACCTAC	0.363													3	16					0	0	1	0	0	T	69708349	C	T	69708349	3	4	157	1	0	0	0	0	1	0	0	0	8291	643	23	1	34	1	KIF23	15	69708349	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		69708349	32823043	12	2669											
IL16	3603	broad.mit.edu	37	chr15	81592023	81592023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaggtcctcctgtgGctcccaagccagcctggttt	11	12	0	2			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr15:81592023G>A	uc010unp.2	+	13	2508	c.2482G>A	c.(2482-2484)Gct>Act	p.A828T	IL16_uc010blq.1_Missense_Mutation_p.A740T|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc002bgg.3_Missense_Mutation_p.A786T|IL16_uc021ssh.1_Missense_Mutation_p.A786T|IL16_uc002bgi.1_Missense_Mutation_p.A176T|IL16_uc002bgj.3_Missense_Mutation_p.A280T|IL16_uc021ssi.1_Missense_Mutation_p.A85T|IL16_uc002bgl.1_Missense_Mutation_p.A85T|IL16_uc010unq.1_Missense_Mutation_p.A85T	NM_172217	NP_001165599	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	786					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCTCCTGTGGCTCCCAAGCC	0.572													11	49					0	0	1	0	0	A	81592023	G	A	81592023	3	1	157	1	0	0	0	0	1	0	0	0	7633	1203	42	2	2406	2	IL16	15	81592023	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08	11883674	81592023	20939369	13	2670											
ZNF207	7756	broad.mit.edu	37	chr17	30687676	30687676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgatgacgactctgcaGcctcaacttcatttcagcca	7	12	4	3			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr17:30687676G>A	uc010csz.3	+	4	723	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	ZNF207_uc002hhj.4_Missense_Mutation_p.A123T|ZNF207_uc002hhh.4_Missense_Mutation_p.A123T|ZNF207_uc002hhi.4_Missense_Mutation_p.A123T|ZNF207_uc002hhk.1_Missense_Mutation_p.A123T|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CGACTCTGCAGCCTCAACTTC	0.398													3	32					0	0	1	0	0	A	30687676	G	A	30687676	3	1	157	1	0	0	0	0	1	0	0	0	17762	971	34	2	381	2	ZNF207	17	30687676	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		30687676	50507534	14	2671											
GPKOW	27238	broad.mit.edu	37	chrX	48974115	48974115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcggtcaggttggcacCcagccctaaccccttgggcc	12	17	1	0			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chrX:48974115C>A	uc004dmr.3	-	4	623	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	206	G-patch.					nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AGGTTGGCACCCAGCCCTAAC	0.572													3	12					0	0	1	0	0	A	48974115	C	A	48974115	3	1	157	1	0	0	0	0	1	0	0	0	6613	623	22	4	842	4	GPKOW	23	48974115	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		48974115	106296445	15	2672											
MORN1	79906	broad.mit.edu	37	chr1	2268277	2268277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccccgggacaatggggcGcatgtcccctggctgaggag	17	12	0	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:2268277G>A	uc001ajb.1	-	10	1070	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	MORN1_uc009vld.3_Missense_Mutation_p.A326V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	350										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		ACAATGGGGCGCATGTCCCCT	0.657													3	31					0	0	1	0	0	A	2268277	G	A	2268277	3	1	158	1	0	0	0	0	1	0	0	0	9708	1087	38	1	460	1	MORN1	1	2268277	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		2268277	246982344	1	2673											
NBPF3	84224	broad.mit.edu	37	chr1	21807432	21807432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttattgcaggaatgaaaaAggaccaagaagaggaagaag	12	3	0	4			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:21807432A>G	uc001ber.3	+	11	1741	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R	NBPF3_uc001bes.3_Missense_Mutation_p.K408R|NBPF3_uc009vqb.3_Missense_Mutation_p.K452R|NBPF3_uc010odm.2_Missense_Mutation_p.K394R	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	464	NBPF 4.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAATGAAAAAGGACCAAGAA	0.468													3	244					0	0	1	0	0	G	21807432	A	G	21807432	3	3	158	1	0	0	0	0	1	0	0	0	10197	72	3	3	1433	3	NBPF3	1	21807432	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	19539155	21807432	227443189	2	2674											
S100A8	6279	broad.mit.edu	37	chr1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagacgtctgcacccTttttctgtcaagattgagga	9	10	3	4			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:153362715T>C	uc001fbs.3	-	2	316	c.146A>G	c.(145-147)aAg>aGg	p.K49R		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	49	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507													3	178					0	0	1	0	0	C	153362715	T	C	153362715	3	2	158	1	0	0	0	0	1	0	0	0	13786	1609	56	3	139	3	S100A8	1	153362715	Missense_Mutation	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08	131555283	153362715	95887906	3	2675											
ADAM15	8751	broad.mit.edu	37	chr1	155028663	155028663	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtcaccctcgaaaacttCctccactggcgcagggcaca	9	16	1	0			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:155028663C>T	uc001fgr.1	+	8	953	c.852C>T	c.(850-852)ttC>ttT	p.F284F	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Silent_p.F268F|ADAM15_uc010peu.1_Silent_p.F301F|ADAM15_uc001fgx.1_Silent_p.F284F|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.F284F|ADAM15_uc001fgs.1_Silent_p.F284F|ADAM15_uc010pev.1_Silent_p.F294F|ADAM15_uc001fgu.1_Silent_p.F284F|ADAM15_uc001fgv.1_Silent_p.F284F|ADAM15_uc001fgw.1_Silent_p.F284F	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	284	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCGAAAACTTCCTCCACTGGC	0.622													4	117					0	0	1	0	0	T	155028663	C	T	155028663	2	4	158	1	0	0	0	0	0	0	0	1	237	854	30	2		2	ADAM15	1	155028663	Silent	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	1665948	155028663	94221958	4	2676											
SPAST	6683	broad.mit.edu	37	chr2	32312619	32312619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgaagaactggaaaaAggaatagctgttatagttac	11	3	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:32312619A>G	uc002roc.3	+	1	695	c.474A>G	c.(472-474)aaA>aaG	p.K158K	SPAST_uc002rod.3_Silent_p.K158K	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	158	MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTGGAAAAAGGAATAGCTG	0.318													3	166					0	0	1	0	0	G	32312619	A	G	32312619	2	3	158	1	0	0	0	0	0	0	0	1	14996	69	3	3		3	SPAST	2	32312619	Silent	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08		32312619	210886754	5	2677											
EPHA4	2043	broad.mit.edu	37	chr2	222428985	222428985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttaatctcaatatacaCcctctgagccccttctcggg	6	13	3	1	rs144149406		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:222428985C>A	uc002vmq.3	-	2	331	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	EPHA4_uc002vmr.2_Missense_Mutation_p.V97L|EPHA4_uc010zlm.1_Missense_Mutation_p.V38L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	97						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAATATACACCCTCTGAGCC	0.468													5	214					0	0	1	0	0	A	222428985	C	A	222428985	3	1	158	1	0	0	0	0	1	0	0	0	5169	507	18	4	2731	4	EPHA4	2	222428985	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	190116366	222428985	20770388	6	2678											
ACY1	95	broad.mit.edu	37	chr3	52019429	52019429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaggcaccaaccctaCactctcctccatcttgctca	5	19	3	0			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:52019429C>T	uc011bea.2	+	5	737	c.482C>T	c.(481-483)aCa>aTa	p.T161I	ABHD14B_uc003dcn.3_5'Flank|ACY1_uc011beb.2_Missense_Mutation_p.T71I|ACY1_uc003dcp.3_Missense_Mutation_p.T71I|ACY1_uc003dcq.3_Missense_Mutation_p.T71I|ACY1_uc021wzb.1_Missense_Mutation_p.T36I|ACY1_uc021wzc.1_Missense_Mutation_p.T71I|ACY1_uc021wzd.1_Missense_Mutation_p.T71I	NM_001198895	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 2, mRNA.	71					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	p.R161Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	ACCAACCCTACACTCTCCTCC	0.607													47	102					0	0	1	0	0	T	52019429	C	T	52019429	3	4	158	1	0	0	0	0	1	0	0	0	226	478	17	2	222	2	ACY1	3	52019429	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		52019429	146003001	7	2679											
MYLK	4638	broad.mit.edu	37	chr3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgcagtgctcctggcGcgcggccaggatggtgagct	17	13	0	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:123383036G>A	uc003ego.3	-	22	4183	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Missense_Mutation_p.R101C|MYLK_uc011bjw.2_Missense_Mutation_p.R1301C|MYLK_uc003egp.3_Missense_Mutation_p.R1232C|MYLK_uc003egq.3_Missense_Mutation_p.R1301C|MYLK_uc003egr.3_Missense_Mutation_p.R1232C|MYLK_uc003egs.3_Missense_Mutation_p.R1125C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1301	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627													40	294					0	0	1	0	0	A	123383036	G	A	123383036	3	1	158	1	0	0	0	0	1	0	0	0	10056	1087	38	1	1891	1	MYLK	3	123383036	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	71363607	123383036	74639394	8	2680											
EPHB1	2047	broad.mit.edu	37	chr3	134873067	134873067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgtcatggccacagccGgagcagcccaatggcatcat	10	14	2	0			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:134873067G>A	uc003eqt.3	+	5	1746	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_uc003equ.3_Silent_p.P18P	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	457	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557													4	239					0	0	1	0	0	A	134873067	G	A	134873067	2	1	158	1	0	0	0	0	0	0	0	1	5174	1103	39	1		1	EPHB1	3	134873067	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	11490031	134873067	63149363	9	2681											
STOX2	56977	broad.mit.edu	37	chr4	184930711	184930711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgccacccactgaaaagagCaaaagtactgtaaatttttc	7	9	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr4:184930711C>A	uc003ivz.1	+	2	2155	c.720C>A	c.(718-720)agC>agA	p.S240R	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	240					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTGAAAAGAGCAAAAGTACTG	0.443													3	36					0	0	1	0	0	A	184930711	C	A	184930711	3	1	158	1	0	0	0	0	1	0	0	0	15319	709	25	4	730	4	STOX2	4	184930711	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		184930711	6223565	10	2682											
PKHD1	5314	broad.mit.edu	37	chr6	51619708	51619708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactattttgtcatgggggcGccaatccactgcatcttcta	9	11	3	0	rs148990124		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:51619708G>A	uc003pah.1	-	55	8947	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C	PKHD1_uc010jzn.1_Missense_Mutation_p.R874C|PKHD1_uc003pai.3_Missense_Mutation_p.R2891C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2891					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCATGGGGGCGCCAATCCACT	0.438													26	197					0	0	1	0	0	A	51619708	G	A	51619708	3	1	158	1	0	0	0	0	1	0	0	0	11971	1087	38	1	3640	1	PKHD1	6	51619708	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		51619708	119495359	11	2683											
DLL1	28514	broad.mit.edu	37	chr6	170594187	170594187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagattttgccgtagaagcCgggtgggcaggtacaggagt	16	7	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:170594187C>T	uc003qxm.3	-	7	1539	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	357	EGF-like 4; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CCGTAGAAGCCGGGTGGGCAG	0.557													4	99					0	0	1	0	0	T	170594187	C	T	170594187	3	4	158	1	0	0	0	0	1	0	0	0	4566	652	23	1	1118	1	DLL1	6	170594187	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	118974479	170594187	520880	12	2684											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74212378	74212378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagatacttcctgagcccTtttttcagctcgtgaagctt	8	10	1	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr7:74212378T>C	uc003ubd.1	-	15	1657	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_uc010lbt.1_Silent_p.K38K	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468													3	202					0	0	1	0	0	C	74212378	T	C	74212378	2	2	158	1	0	0	0	0	0	0	0	1	6869	1606	56	3		3	GTF2IRD2	7	74212378	Silent	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08		74212378	84926285	13	2685											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				40	80					0	0	1	0	0	T	140453136	A	T	140453136	3	4	158	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	66240758	140453136	18685527	14	2686											
SH3GLB2	56904	broad.mit.edu	37	chr9	131777178	131777178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccaccttgatcagtgTcttccctgagaaaacagagt	8	11	3	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr9:131777178T>C	uc004bww.3	-	3	486	c.340A>G	c.(340-342)Aca>Gca	p.T114A	SH3GLB2_uc004bwv.3_Missense_Mutation_p.T114A	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA.	114	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	SH3 domain binding|cytoskeletal adaptor activity			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TTGATCAGTGTCTTCCCTGAG	0.532													62	149					0	0	1	0	0	C	131777178	T	C	131777178	3	2	158	1	0	0	0	0	1	0	0	0	14254	1667	58	3	879	3	SH3GLB2	9	131777178	Missense_Mutation	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08		131777178	9436253	15	2687											
CCDC67	159989	broad.mit.edu	37	chr11	93103317	93103317	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatttctttagatgctcaaCaaaaattattatctgagaag	6	5	3	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:93103317C>T	uc001pdq.3	+	5	611	c.511C>T	c.(511-513)Caa>Taa	p.Q171*	CCDC67_uc001pdo.1_Nonsense_Mutation_p.Q171*|CCDC67_uc001pdp.3_Nonsense_Mutation_p.Q171*	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	171										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGATGCTCAACAAAAATTATT	0.308													8	14					0	0	1	0	0	T	93103317	C	T	93103317	4	4	158	1	0	0	0	0	0	1	0	0	2839	479	17	2	529	2	CCDC67	11	93103317	Nonsense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		93103317	41903199	16	2688											
TEX12	56158	broad.mit.edu	37	chr11	112040055	112040055	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccaagagaattggagGtaagctgtatgcctatggag	15	5	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:112040055G>A	uc001pnc.3	+	2	195	c.63_splice	c.e2+1	p.E21_splice	TEX12_uc001pnd.3_Splice_Site_p.E21_splice	NM_031275	NP_112565	Q9BXU0	TEX12_HUMAN	Homo sapiens testis expressed 12 (TEX12), mRNA.	21										endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAATTGGAGGTAAGCTGTAT	0.373													4	147					0	0	1	0	0	A	112040055	G	A	112040055	5	1	158	1	0	0	0	0	0	0	1	0	15772	1275	44	2	66	2	TEX12	11	112040055	Splice_Site	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	18936738	112040055	22966461	17	2689											
SCYL2	55681	broad.mit.edu	37	chr12	100704966	100704966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaaccaatccttctgaaCaagaggtaatgaaagtttta	6	8	2	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:100704966C>A	uc001thn.3	+	4	675	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	SCYL2_uc009ztw.1_Missense_Mutation_p.Q36K|SCYL2_uc001thm.1_Missense_Mutation_p.Q209K	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	209	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTCTGAACAAGAGGTAAT	0.348													3	95					0	0	1	0	0	A	100704966	C	A	100704966	3	1	158	1	0	0	0	0	1	0	0	0	13948	479	17	4	639	4	SCYL2	12	100704966	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		100704966	33146929	18	2690											
ASCL1	429	broad.mit.edu	37	chr12	103352503	103352503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtaaggtggagacactgCgctcggcggtcgagtacatc	15	9	0	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:103352503C>A	uc001tjr.4	+	0	1052	c.481C>A	c.(481-483)Cgc>Agc	p.R161S	ASCL1_uc021rcu.1_Missense_Mutation_p.R161S	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	161	Helix-loop-helix motif.				Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						GGAGACACTGCGCTCGGCGGT	0.657													3	58					0	0	1	0	0	A	103352503	C	A	103352503	3	1	158	1	0	0	0	0	1	0	0	0	1034	768	27	4	483	4	ASCL1	12	103352503	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	2647537	103352503	30499392	19	2691											
ATP7B	540	broad.mit.edu	37	chr13	52548923	52548923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctccacccggagcttgaCcacagcctcctgggcaggca	11	18	0	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr13:52548923C>A	uc001vfw.2	-	1	590	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	ATP7B_uc001vfy.2_Missense_Mutation_p.V145F|ATP7B_uc010adv.2_Missense_Mutation_p.V145F|ATP7B_uc001vfx.2_Missense_Mutation_p.V145F|ATP7B_uc010tgt.1_Missense_Mutation_p.V145F|ATP7B_uc010tgu.1_Missense_Mutation_p.V145F|ATP7B_uc010tgv.1_Missense_Mutation_p.V145F|ATP7B_uc010tgw.1_Missense_Mutation_p.V113F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	145	HMA 2.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CGGAGCTTGACCACAGCCTCC	0.577									Wilson disease				16	56					0	0	1	0	0	A	52548923	C	A	52548923	3	1	158	1	0	0	0	0	1	0	0	0	1191	507	18	4	4044	4	ATP7B	13	52548923	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		52548923	62620955	20	2692											
OR11G2	390439	broad.mit.edu	37	chr14	20666079	20666079	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttggtttcatctggttcttGattcctatcgtcaacatctc	6	11	5	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:20666079G>A	uc010tlb.2	+	0	585	c.585G>A	c.(583-585)ttG>ttA	p.L195L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTGGTTCTTGATTCCTATCG	0.453													6	54					0	0	1	0	0	A	20666079	G	A	20666079	2	1	158	1	0	0	0	0	0	0	0	1	10925	1281	45	2		2	OR11G2	14	20666079	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		20666079	86683461	21	2693											
DAAM1	23002	broad.mit.edu	37	chr14	59791100	59791100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttagacttcatcttcgctAtgaatttctgatgttaggaa	7	7	3	3			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:59791100A>G	uc001xdz.1	+	7	1042	c.917A>G	c.(916-918)tAt>tGt	p.Y306C	DAAM1_uc001xea.1_Missense_Mutation_p.Y306C|DAAM1_uc001xeb.1_Missense_Mutation_p.Y306C	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	306	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CATCTTCGCTATGAATTTCTG	0.289													42	101					0	0	1	0	0	G	59791100	A	G	59791100	3	3	158	1	0	0	0	0	1	0	0	0	4215	449	16	3	943	3	DAAM1	14	59791100	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	39125021	59791100	47558440	22	2694											
CACNA1G	8913	broad.mit.edu	37	chr17	48678432	48678432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccgcctcctgtgtcaccGgatcatcacccacaagatgt	8	15	3	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr17:48678432G>A	uc002irk.1	+	18	4184	c.3812G>A	c.(3811-3813)cGg>cAg	p.R1271Q	CACNA1G_uc002iri.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R1161Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1271					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGTGTCACCGGATCATCACC	0.627													80	178					0	0	1	0	0	A	48678432	G	A	48678432	3	1	158	1	0	0	0	0	1	0	0	0	2544	1116	39	1	3886	1	CACNA1G	17	48678432	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		48678432	32516778	23	2695											
ALPK2	115701	broad.mit.edu	37	chr18	56247518	56247518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggttggatttggagggggAggagtcagctgacctgggag	20	4	1	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr18:56247518A>G	uc002lhj.4	-	3	704	c.490T>C	c.(490-492)Tcc>Ccc	p.S164P		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	164							ATP binding|protein serine/threonine kinase activity	p.R164T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGGAGGGGGAGGAGTCAGCT	0.468													4	355					0	0	1	0	0	G	56247518	A	G	56247518	3	3	158	1	0	0	0	0	1	0	0	0	545	304	11	3	6062	3	ALPK2	18	56247518	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08		56247518	21829730	24	2696											
C3	718	broad.mit.edu	37	chr19	6702224	6702224	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatgagcttcgtagagattCtggatggagaagaggttggg	16	4	2	4			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:6702224C>A	uc002mfm.3	-	19	2417	c.2355_splice	c.e19-1	p.G785_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	785					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGTAGAGATTCTGGATGGAGA	0.507													28	44					0	0	1	0	0	A	6702224	C	A	6702224	5	1	158	1	0	0	0	0	0	0	1	0	2204	927	32	4	2729	4	C3	19	6702224	Splice_Site	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		6702224	52426759	25	2697											
RYR1	6261	broad.mit.edu	37	chr19	38959719	38959719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatcttcaccctcaatggCgaggtcctcatgtctgactc	7	13	5	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:38959719C>T	uc002oit.3	+	25	3625	c.3495C>T	c.(3493-3495)ggC>ggT	p.G1165G	RYR1_uc002oiu.3_Silent_p.G1165G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1165	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCAATGGCGAGGTCCTCA	0.557													12	119					0	0	1	0	0	T	38959719	C	T	38959719	2	4	158	1	0	0	0	0	0	0	0	1	13768	755	27	1		1	RYR1	19	38959719	Silent	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	32257495	38959719	20169264	26	2698											
NF2	4771	broad.mit.edu	37	chr22	30038263	30038263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctggcttcttacgccGtccaggccaaggtaggctca	11	14	2	0			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:30038263G>A	uc003age.4	+	3	879	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	NF2_uc003afy.4_Missense_Mutation_p.V146I|NF2_uc003afz.4_Missense_Mutation_p.V63I|NF2_uc003agf.4_Missense_Mutation_p.V146I|NF2_uc003agb.4_Missense_Mutation_p.V69I|NF2_uc003agc.4_Missense_Mutation_p.V108I|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Missense_Mutation_p.V146I|NF2_uc003aga.4_Missense_Mutation_p.V104I|NF2_uc003agh.4_Missense_Mutation_p.V105I|NF2_uc003agi.4_Missense_Mutation_p.V63I|NF2_uc003agj.4_Missense_Mutation_p.V146I	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	146	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(10)|p.?(2)|p.V146I(2)|p.Y144fs*5(1)|p.K123fs*2(1)|p.L140_P252del(1)|p.L127_D382del(1)|p.A145_L163del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACGCCGTCCAGGCCAA	0.448			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				3	59					0	0	1	0	0	A	30038263	G	A	30038263	3	1	158	1	0	0	0	0	1	0	0	0	10357	1145	40	1	450	1	NF2	22	30038263	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		30038263	21266303	27	2699											
ALG12	79087	broad.mit.edu	37	chr22	50302984	50302984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaaataagagtccacagCaaccgtcagtcctgacaaaa	6	12	1	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:50302984C>A	uc003biy.3	-	5	950	c.676G>T	c.(676-678)Gct>Tct	p.A226S		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	226					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTCCACAGCAACCGTCAGT	0.478													3	74					0	0	1	0	0	A	50302984	C	A	50302984	3	1	158	1	0	0	0	0	1	0	0	0	514	710	25	4	810	4	ALG12	22	50302984	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	20264721	50302984	1001582	28	2700											
CENPI	2491	broad.mit.edu	37	chrX	100382562	100382562	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggaaaaaaagagatgAgtctttctgattgtctgaat	10	3	3	4			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:100382562A>T	uc004egx.3	+	9	1252	c.982A>T	c.(982-984)Agt>Tgt	p.S328C	CENPI_uc011mrg.2_Missense_Mutation_p.S328C|CENPI_uc004egy.3_Missense_Mutation_p.S328C	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	328					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAAAGAGATGAGTCTTTCTGA	0.358													63	126					0	0	1	0	0	T	100382562	A	T	100382562	3	4	158	1	0	0	0	0	1	0	0	0	3233	304	11	5	1016	5	CENPI	23	100382562	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08		100382562	54887998	29	2701											
GUCY2F	2986	broad.mit.edu	37	chrX	108631736	108631736	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acctgagtgaaggccaattcGaattcggaccggcacttctg	11	11	1	2			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:108631736G>T	uc004eod.4	-	14	3214	c.2938C>A	c.(2938-2940)Cga>Aga	p.R980R	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc022cch.1_Silent_p.R980R	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	980	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGGCCAATTCGAATTCGGACC	0.453													4	271					0	0	1	0	0	T	108631736	G	T	108631736	2	4	158	1	0	0	0	0	0	0	0	1	6898	1066	37	4		4	GUCY2F	23	108631736	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	8249174	108631736	46638824	30	2702											
F8	2157	broad.mit.edu	37	chrX	154157202	154157202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgattgctttcacaagcGttcagggacaaaatggtatc	10	8	2	1			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:154157202G>A	uc004fmt.3	-	13	5034	c.4863C>T	c.(4861-4863)aaC>aaT	p.N1621N		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1621	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCACAAGCGTTCAGGGACA	0.413													5	286					0	0	1	0	0	A	154157202	G	A	154157202	2	1	158	1	0	0	0	0	0	0	0	1	5350	1136	40	1		1	F8	23	154157202	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	45525466	154157202	1113358	31	2703											
WFS1	7466	broad.mit.edu	37	chr4	6302918	6302918	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggccaccgaggtcaccgccGgcctgctatcgctgctgccc	12	18	1	0			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr4:6302918G>C	uc003giy.3	+	7	1562	c.1396G>C	c.(1396-1398)Ggc>Cgc	p.G466R	WFS1_uc003gix.3_Missense_Mutation_p.G466R|WFS1_uc003giz.3_Missense_Mutation_p.G284R	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	466					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGTCACCGCCGGCCTGCTATC	0.642													6	75					0	0	1	0	0	C	6302918	G	C	6302918	3	2	159	1	0	0	0	0	1	0	0	0	17357	1116	39	4	1422	4	WFS1	4	6302918	Missense_Mutation	SNP	G	TCGA-EL-A3CO-01A-11D-A19J-08		6302918	184851358	1	2704											
AFM	173	broad.mit.edu	37	chr4	74357625	74357625	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatttgttcaaaacaagatTctatctccagcaaaatcaaa	3	8	4	1			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr4:74357625T>G	uc003hhb.3	+	7	911	c.880T>G	c.(880-882)Tct>Gct	p.S294A		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	294	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAACAAGATTCTATCTCCAG	0.358													5	104					0	0	1	0	0	G	74357625	T	G	74357625	3	3	159	1	0	0	0	0	1	0	0	0	361	1783	62	5	910	5	AFM	4	74357625	Missense_Mutation	SNP	T	TCGA-EL-A3CO-01A-11D-A19J-08	68054707	74357625	116796651	2	2705											
FLOT1	10211	broad.mit.edu	37	chr6	30707994	30707994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacctcgatgtcataggCggccttcttcagttcgtaat	10	10	3	1			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr6:30707994C>T	uc003nrm.3	-	7	828	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	FLOT1_uc011dmr.2_Missense_Mutation_p.A174T	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	222						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						ATGTCATAGGCGGCCTTCTTC	0.562													4	51					0	0	1	0	0	T	30707994	C	T	30707994	3	4	159	1	0	0	0	0	1	0	0	0	5936	768	27	1	643	1	FLOT1	6	30707994	Missense_Mutation	SNP	C	TCGA-EL-A3CO-01A-11D-A19J-08		30707994	140407073	3	2706											
KCNMA1	3778	broad.mit.edu	37	chr10	79011015	79011015	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaaagactaagacaacCtgtaaaagaagaggagaatg	11	5	0	6			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr10:79011015C>T	uc001jxn.3	-	3	718	c.541_splice	c.e3-1	p.V181_splice	KCNMA1_uc021ptu.1_Splice_Site_p.V127_splice|KCNMA1_uc001jxj.2_Splice_Site_p.V181_splice|KCNMA1_uc009xrt.1_Splice_Site|KCNMA1_uc001jxo.3_Splice_Site_p.V181_splice|KCNMA1_uc001jxm.3_Splice_Site_p.V181_splice|KCNMA1_uc001jxq.3_Splice_Site_p.V181_splice	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	181					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.?(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTAAGACAACCTGTAAAAGAA	0.398											OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	35					0	0	1	0	0	T	79011015	C	T	79011015	5	4	159	1	0	0	0	0	0	0	1	0	8073	695	24	2	3446	2	KCNMA1	10	79011015	Splice_Site	SNP	C	TCGA-EL-A3CO-01A-11D-A19J-08		79011015	56523732	4	2707											
C12orf71	728858	broad.mit.edu	37	chr12	27234923	27234923	+	Frame_Shift_Del	DEL	C	C	-													gaaccatttccggaggggagCcgctggatagctggaaatct							TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr12:27234923delC	uc001rhq.3	-	0	533	c.494delG	c.(493-495)ggcfs	p.G165fs		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	165										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CGGAGGGGAGCCGCTGGATAG	0.423													2	4	---	---	---	---						-	27234923	C	-	27234923	7	5	159	1	0	1	0	1	0	0	0	0	1712	739	26	0	323	0	C12orf71	12	27234923	Frame_Shift_Del	DEL	C	TCGA-EL-A3CO-01A-11D-A19J-08		27234923	106616972	5	2708											
SYNE2	23224	broad.mit.edu	37	chr14	64680925	64680925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttagggcttggaagatgAaaaggaggcctctgagaatg	16	4	1	3			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr14:64680925A>G	uc001xgl.3	+	105	19300	c.19070A>G	c.(19069-19071)gAa>gGa	p.E6357G	SYNE2_uc001xgm.3_Missense_Mutation_p.E6357G|SYNE2_uc010apy.3_Missense_Mutation_p.E2742G|SYNE2_uc001xgn.3_Missense_Mutation_p.E1319G|SYNE2_uc021rui.1_Missense_Mutation_p.E1344G|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.E327G|SYNE2_uc001xgq.3_Missense_Mutation_p.E722G|SYNE2_uc001xgr.3_Missense_Mutation_p.E140G|SYNE2_uc010tsi.2_5'UTR|SYNE2_uc001xgs.3_5'UTR|SYNE2_uc001xgt.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6357					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGGAAGATGAAAAGGAGGCC	0.458													7	103					0	0	1	0	0	G	64680925	A	G	64680925	3	3	159	1	0	0	0	0	1	0	0	0	15443	246	9	3	19488	3	SYNE2	14	64680925	Missense_Mutation	SNP	A	TCGA-EL-A3CO-01A-11D-A19J-08		64680925	42668615	6	2709											
CDH8	1006	broad.mit.edu	37	chr16	61687935	61687935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgatgttttctcgaacGtcttcatcatctttgataat	6	8	5	2			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr16:61687935G>A	uc002eog.2	-	11	2932	c.1977C>T	c.(1975-1977)gaC>gaT	p.D659D		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTCTCGAACGTCTTCATCAT	0.393													8	122					0	0	1	0	0	A	61687935	G	A	61687935	2	1	159	1	0	0	0	0	0	0	0	1	3116	1136	40	1		1	CDH8	16	61687935	Silent	SNP	G	TCGA-EL-A3CO-01A-11D-A19J-08		61687935	28666818	7	2710											
EIF1AX	1964	broad.mit.edu	37	chrX	20156731	20156731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctgcgtctgtttttaCctcctttacctgatggttta	6	12	1	1			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chrX:20156731C>T	uc004czt.3	-	1	234	c.26G>A	c.(25-27)gGt>gAt	p.G9D	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	9						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313													15	56					0	0	1	0	0	T	20156731	C	T	20156731	3	4	159	1	0	0	0	0	1	0	0	0	4992	507	18	2	432	2	EIF1AX	23	20156731	Missense_Mutation	SNP	C	TCGA-EL-A3CO-01A-11D-A19J-08		20156731	135113829	8	2711											
KIAA1109	84162	broad.mit.edu	37	chr4	123193357	123193357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtaaagttgtgtttgAgaatgaacaagacaacagca	9	5	0	3			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr4:123193357A>G	uc003ieh.3	+	45	8288	c.8243A>G	c.(8242-8244)gAg>gGg	p.E2748G	KIAA1109_uc003iel.1_Missense_Mutation_p.E683G|KIAA1109_uc003iek.2_Missense_Mutation_p.E1367G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2748					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTGTGTTTGAGAATGAACAA	0.383													14	48					0	0	1	0	0	G	123193357	A	G	123193357	3	3	160	1	0	0	0	0	1	0	0	0	8208	304	11	3	8425	3	KIAA1109	4	123193357	Missense_Mutation	SNP	A	TCGA-EL-A3CP-01A-11D-A19J-08		123193357	67960919	1	2712											
HK3	3101	broad.mit.edu	37	chr5	176314337	176314337	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccaggaaatcccctcgCtctgtgggggcagagaccct	14	13	1	1			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr5:176314337C>T	uc003mfa.3	-	12	1693	c.1601_splice	c.e12-1	p.E534_splice	HK3_uc003mez.3_Splice_Site_p.E90_splice	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	534	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATCCCCTCGCTCTGTGGGGG	0.637													13	39					0	0	1	0	0	T	176314337	C	T	176314337	5	4	160	1	0	0	0	0	0	0	1	0	7192	811	28	2	1201	2	HK3	5	176314337	Splice_Site	SNP	C	TCGA-EL-A3CP-01A-11D-A19J-08		176314337	4600923	2	2713											
TDRD6	221400	broad.mit.edu	37	chr6	46656684	46656684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagctccgcagcgtctcGcaggagatccaccgcctctc	10	18	2	1			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr6:46656684G>A	uc003oyj.3	+	0	1073	c.819G>A	c.(817-819)tcG>tcA	p.S273S	TDRD6_uc010jze.3_Silent_p.S273S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	273					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCAGCGTCTCGCAGGAGATCC	0.627													3	23					0	0	1	0	0	A	46656684	G	A	46656684	2	1	160	1	0	0	0	0	0	0	0	1	15731	1074	38	1		1	TDRD6	6	46656684	Silent	SNP	G	TCGA-EL-A3CP-01A-11D-A19J-08		46656684	124458383	3	2714											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	57					0	0	1	0	0	T	140453136	A	T	140453136	3	4	160	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CP-01A-11D-A19J-08		140453136	18685527	4	2715											
DFNB31	25861	broad.mit.edu	37	chr9	117166263	117166263	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaccgactgccttcctcgGcctggggcgctggcctctgc	13	17	1	0			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr9:117166263G>T	uc004biz.4	-	9	2986	c.2331C>A	c.(2329-2331)ggC>ggA	p.G777G	DFNB31_uc004bix.3_Silent_p.G426G|DFNB31_uc004biy.4_Silent_p.G394G|DFNB31_uc004bja.4_Silent_p.G776G	NM_015404	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 1, mRNA.	777					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTTCCTCGGCCTGGGGCGC	0.652													41	84					0	0	1	0	0	T	117166263	G	T	117166263	2	4	160	1	0	0	0	0	0	0	0	1	4455	1190	42	4		4	DFNB31	9	117166263	Silent	SNP	G	TCGA-EL-A3CP-01A-11D-A19J-08		117166263	24047168	5	2716											
ZNF407	55628	broad.mit.edu	37	chr18	72346448	72346448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgaagaagaatctaattTcaatgaagaccattcctttt	6	7	2	5			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr18:72346448T>C	uc002llw.2	+	0	3526	c.3473T>C	c.(3472-3474)tTc>tCc	p.F1158S	ZNF407_uc010xfc.2_Missense_Mutation_p.F1158S|ZNF407_uc010dqu.2_Missense_Mutation_p.F1158S|ZNF407_uc002llu.2_Missense_Mutation_p.F1157S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N1157H(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATCTAATTTCAATGAAGAC	0.383													21	82					0	0	1	0	0	C	72346448	T	C	72346448	3	2	160	1	0	0	0	0	1	0	0	0	17884	1783	62	3	3475	3	ZNF407	18	72346448	Missense_Mutation	SNP	T	TCGA-EL-A3CP-01A-11D-A19J-08		72346448	5730800	6	2717											
AJAP1	55966	broad.mit.edu	37	chr1	4832584	4832584	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccacatttaatggaaacCggtaagctcgggctctgcta	9	10	1	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:4832584C>T	uc001alm.1	+	4	1544	c.1163_splice	c.e4+1	p.R388_splice	AJAP1_uc001aln.3_Splice_Site_p.R388_splice	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	388	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TAATGGAAACCGGTAAGCTCG	0.592													4	26					0	0	1	0	0	T	4832584	C	T	4832584	5	4	161	1	0	0	0	0	0	0	1	0	438	666	23	1	1176	1	AJAP1	1	4832584	Splice_Site	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		4832584	244418037	1	2718											
LUZP1	7798	broad.mit.edu	37	chr1	23418878	23418878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcaggttgattaaccCcttctttatgtgaggttgaa	10	8	1	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:23418878C>A	uc001bgk.2	-	3	2427	c.1877G>T	c.(1876-1878)gGg>gTg	p.G626V	LUZP1_uc010odv.1_Missense_Mutation_p.G626V|LUZP1_uc001bgl.3_Missense_Mutation_p.G626V|LUZP1_uc001bgm.1_Missense_Mutation_p.G626V	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	626						nucleus		p.E625Q(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGATTAACCCCTTCTTTATG	0.473													4	149					0	0	1	0	0	A	23418878	C	A	23418878	3	1	161	1	0	0	0	0	1	0	0	0	9086	623	22	4	1361	4	LUZP1	1	23418878	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	18586294	23418878	225831743	2	2719											
HIST3H2A	92815	broad.mit.edu	37	chr1	228645400	228645400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcccacgcgctccgaaTagttgcccttgcggagcaac	12	16	0	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:228645400T>C	uc001hsy.3	-	0	161	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	HIST3H2BB_uc001hsz.3_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.	40					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GCGCTCCGAATAGTTGCCCTT	0.721													3	20					0	0	1	0	0	C	228645400	T	C	228645400	3	2	161	1	0	0	0	0	1	0	0	0	7182	1406	49	3	277	3	HIST3H2A	1	228645400	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	205226522	228645400	20605221	3	2720											
DNMT3A	1788	broad.mit.edu	37	chr2	25469564	25469564	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatcatgggcttgttctGcacctccacggccttggcag	10	13	3	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr2:25469564G>A	uc002rgc.3	-	9	1461	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	DNMT3A_uc002rgd.3_Nonsense_Mutation_p.Q402*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.Q213*	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	402	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTTGTTCTGCACCTCCACG	0.637			"Mis, F, N, S"		AML								5	102					0	0	1	0	0	A	25469564	G	A	25469564	4	1	161	1	0	0	0	0	0	1	0	0	4676	1328	46	2	1590	2	DNMT3A	2	25469564	Nonsense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		25469564	217729809	4	2721											
TMF1	7110	broad.mit.edu	37	chr3	69088082	69088082	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagacggccaagatctttctCttggcgttctaccatggaat	9	10	3	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr3:69088082C>G	uc011bfx.2	-	6	2162	c.1915G>C	c.(1915-1917)Gag>Cag	p.E639Q	TMF1_uc003dnn.3_Missense_Mutation_p.E636Q	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	636					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGATCTTTCTCTTGGCGTTCT	0.373													4	40					0	0	1	0	0	G	69088082	C	G	69088082	3	3	161	1	0	0	0	0	1	0	0	0	16225	922	32	4	1419	4	TMF1	3	69088082	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		69088082	128934348	5	2722											
KIAA0232	9778	broad.mit.edu	37	chr4	6826286	6826286	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtctctgcttcatgctTtgggtccagtgcagacctgg	11	10	2	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr4:6826286T>G	uc003gjr.4	+	2	569	c.106T>G	c.(106-108)Ttg>Gtg	p.L36V	KIAA0232_uc003gjq.4_Missense_Mutation_p.L36V	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	36							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTCATGCTTTGGGTCCAGT	0.488													4	101					0	0	1	0	0	G	6826286	T	G	6826286	3	3	161	1	0	0	0	0	1	0	0	0	8163	1838	64	5	108	5	KIAA0232	4	6826286	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08		6826286	184327990	6	2723											
FASTKD3	79072	broad.mit.edu	37	chr5	7868025	7868025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttacaatgggcatgatGgaatttgaccccgaaaggct	10	8	0	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:7868025G>A	uc003jeb.3	-	1	344	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	FASTKD3_uc011cmp.2_Intron|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	58					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGGCATGATGGAATTTGACC	0.433													12	51					0	0	1	0	0	A	7868025	G	A	7868025	3	1	161	1	0	0	0	0	1	0	0	0	5687	1348	47	2	1840	2	FASTKD3	5	7868025	Missense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		7868025	173047235	7	2724											
HOMER1	9456	broad.mit.edu	37	chr5	78752789	78752789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtacccagttcttctttgTgtttgggtcaatttggaaga	12	6	3	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:78752789T>A	uc003kfy.3	-	1	1161	c.58A>T	c.(58-60)Aca>Tca	p.T20S	HOMER1_uc010jab.3_Missense_Mutation_p.T20S|HOMER1_uc010jac.3_Missense_Mutation_p.T20S|HOMER1_uc010jad.3_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	20	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TTCTTCTTTGTGTTTGGGTCA	0.423													4	118					0	0	1	0	0	A	78752789	T	A	78752789	3	1	161	1	0	0	0	0	1	0	0	0	7278	1696	59	5	1038	5	HOMER1	5	78752789	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	70884764	78752789	102162471	8	2725											
DMXL1	1657	broad.mit.edu	37	chr5	118506950	118506950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgtaagaatggaattgaTtttgcttttgcaagaatctc	8	5	2	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:118506950T>G	uc010jcl.1	+	23	6645	c.6464T>G	c.(6463-6465)aTt>aGt	p.I2155S	DMXL1_uc003ksd.2_Missense_Mutation_p.I2155S|DMXL1_uc021ycw.1_Missense_Mutation_p.I1982S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2155										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGGAATTGATTTTGCTTTTG	0.353													4	33					0	0	1	0	0	G	118506950	T	G	118506950	3	3	161	1	0	0	0	0	1	0	0	0	4594	1493	52	5	6558	5	DMXL1	5	118506950	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	39754161	118506950	62408310	9	2726											
PCDHAC2	56134	broad.mit.edu	37	chr5	140181292	140181292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaattcgttgttgacttaCagtcttgattccactgaata	6	8	1	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:140181292C>T	uc003lhf.2	+	0	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.Y170Y	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	185	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGACTTACAGTCTTGATT	0.393													6	68					0	0	1	0	0	T	140181292	C	T	140181292	2	4	161	1	0	0	0	0	0	0	0	1	11533	489	17	2		2	PCDHAC2	5	140181292	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	21674342	140181292	40733968	10	2727											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27114964	27114964	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggccaagacccgctcTtctcgggctgggcttcagtt	12	14	3	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr6:27114964T>G	uc003niz.3	+	0	57	c.57T>G	c.(55-57)tcT>tcG	p.S19S	HIST1H2BK_uc003nix.2_5'Flank|Histone3_uc021yox.1_5'Flank|HIST1H2BK_uc021yoy.1_5'Flank|MIR3143_uc021yoz.1_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	Homo sapiens histone cluster 1, H2ah (HIST1H2AH), mRNA.	19					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						AGACCCGCTCTTCTCGGGCTG	0.622													8	70					0	0	1	0	0	G	27114964	T	G	27114964	2	3	161	1	0	0	0	0	0	0	0	1	7134	1596	56	5		5	HIST1H2AH	6	27114964	Silent	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08		27114964	144000103	11	2728											
TBL2	26608	broad.mit.edu	37	chr7	72985120	72985120	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgggtattgtagagatgaAtactactgccactggccaag	12	9	0	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:72985120A>C	uc003tyh.3	-	6	1195	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	TBL2_uc011kex.2_Missense_Mutation_p.I318S|TBL2_uc010lbg.3_Missense_Mutation_p.I259S|TBL2_uc003tyi.3_Missense_Mutation_p.I189S|TBL2_uc011key.2_Missense_Mutation_p.I225S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	354										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTAGAGATGAATACTACTGCC	0.622													15	83					0	0	1	0	0	C	72985120	A	C	72985120	3	2	161	1	0	0	0	0	1	0	0	0	15639	101	4	5	286	5	TBL2	7	72985120	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08		72985120	86153543	12	2729											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	46					0	0	1	0	0	T	140453136	A	T	140453136	3	4	161	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08	67468016	140453136	18685527	13	2730											
DLC1	10395	broad.mit.edu	37	chr8	12956022	12956022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactggcagttaatctgtAgtgatacagagttgaggctt	12	6	1	4			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:12956022A>G	uc003wwm.2	-	9	3497	c.3053T>C	c.(3052-3054)cTa>cCa	p.L1018P	DLC1_uc003wwk.1_Missense_Mutation_p.L581P|DLC1_uc003wwl.1_Missense_Mutation_p.L615P|DLC1_uc011kxx.1_Missense_Mutation_p.L507P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1018					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTTAATCTGTAGTGATACAGA	0.502													4	53					0	0	1	0	0	G	12956022	A	G	12956022	3	3	161	1	0	0	0	0	1	0	0	0	4550	420	15	3	1569	3	DLC1	8	12956022	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08		12956022	133408000	14	2731											
POLR3D	661	broad.mit.edu	37	chr8	22107993	22107993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacaaacttgtatgttccCctgattttgaatccctcttg	6	11	1	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:22107993C>T	uc003xbl.3	+	8	1242	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	POLR3D_uc003xbm.3_Missense_Mutation_p.P387S|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	387					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TGTATGTTCCCCTGATTTTGA	0.547													5	83					0	0	1	0	0	T	22107993	C	T	22107993	3	4	161	1	0	0	0	0	1	0	0	0	12231	623	22	2	1189	2	POLR3D	8	22107993	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	9151971	22107993	124256029	15	2732											
VPS13B	157680	broad.mit.edu	37	chr8	100832176	100832176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctaagtcagtgggatagCccaatgcgagtgaagctgtc	13	9	1	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:100832176C>T	uc003yiv.3	+	48	9006	c.8895C>T	c.(8893-8895)agC>agT	p.S2965S	VPS13B_uc003yiw.3_Silent_p.S2940S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2965					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGGGATAGCCCAATGCGAG	0.393													19	48					0	0	1	0	0	T	100832176	C	T	100832176	2	4	161	1	0	0	0	0	0	0	0	1	17187	738	26	2		2	VPS13B	8	100832176	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	78724183	100832176	45531846	16	2733											
OXR1	55074	broad.mit.edu	37	chr8	107722934	107722934	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaatgaggaaaacgtTtgtatctcaagcaagtgcta	8	7	1	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:107722934T>C	uc011lht.2	+	8	1811	c.1712T>C	c.(1711-1713)tTt>tCt	p.F571S	OXR1_uc022azp.1_Missense_Mutation_p.F570S|OXR1_uc003ymf.3_Missense_Mutation_p.F570S|OXR1_uc011lhu.2_Missense_Mutation_p.F563S|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.F268S	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	571					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGGAAAACGTTTGTATCTCAA	0.378													5	40					0	0	1	0	0	C	107722934	T	C	107722934	3	2	161	1	0	0	0	0	1	0	0	0	11334	1841	64	3	1946	3	OXR1	8	107722934	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	6890758	107722934	38641088	17	2734											
TRPS1	7227	broad.mit.edu	37	chr8	116599646	116599646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagtctggagttagcagaTtgtagaccctgaagtcaatt	11	6	2	4			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:116599646T>C	uc003yny.3	-	4	2860	c.2282A>G	c.(2281-2283)aAt>aGt	p.N761S	TRPS1_uc011lhy.2_Missense_Mutation_p.N752S|TRPS1_uc003ynz.3_Missense_Mutation_p.N748S|TRPS1_uc010mcy.3_Missense_Mutation_p.N748S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	748	Mediates interaction with GLI3.				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTTAGCAGATTGTAGACCCT	0.498									Langer-Giedion syndrome				8	162					0	0	1	0	0	C	116599646	T	C	116599646	3	2	161	1	0	0	0	0	1	0	0	0	16590	1493	52	3	1614	3	TRPS1	8	116599646	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	8876712	116599646	29764376	18	2735											
BAI1	575	broad.mit.edu	37	chr8	143623678	143623678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcccaagcccaaggaGgagcccaagtacagcatcca	11	15	0	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:143623678G>A	uc003ywm.3	+	26	4266	c.4083G>A	c.(4081-4083)gaG>gaA	p.E1361E		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1361					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCCCAAGGAGGAGCCCAAGT	0.697													4	30					0	0	1	0	0	A	143623678	G	A	143623678	2	1	161	1	0	0	0	0	0	0	0	1	1298	991	35	2		2	BAI1	8	143623678	Silent	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08	27024032	143623678	2740344	19	2736											
MMRN2	79812	broad.mit.edu	37	chr10	88704974	88704974	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgactggtccatcctgaGgttcctggtggctgtcacca	12	12	1	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr10:88704974G>T	uc001kea.3	-	3	579	c.452C>A	c.(451-453)cCt>cAt	p.P151H	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.P108H	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	151						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCATCCTGAGGTTCCTGGTG	0.562													4	34					0	0	1	0	0	T	88704974	G	T	88704974	3	4	161	1	0	0	0	0	1	0	0	0	9671	1000	35	4	2413	4	MMRN2	10	88704974	Missense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		88704974	46829773	20	2737											
OR56A1	120796	broad.mit.edu	37	chr11	6048624	6048624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaacatctggaggaagCaggcagggaagctgatcgac	15	7	1	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6048624C>T	uc010qzw.2	-	0	348	c.311G>A	c.(310-312)tGc>tAc	p.C104Y		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGAGGAAGCAGGCAGGGAA	0.552													4	53					0	0	1	0	0	T	6048624	C	T	6048624	3	4	161	1	0	0	0	0	1	0	0	0	11133	710	25	2	649	2	OR56A1	11	6048624	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		6048624	128957892	21	2738											
OR2D3	120775	broad.mit.edu	37	chr11	6942667	6942667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtggctgtctgcaagccCctgtactactctaccatcat	7	13	3	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6942667C>T	uc010rav.2	+	0	435	c.435C>T	c.(433-435)ccC>ccT	p.P145P		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTGCAAGCCCCTGTACTACT	0.512													17	80					0	0	1	0	0	T	6942667	C	T	6942667	2	4	161	1	0	0	0	0	0	0	0	1	10995	610	22	2		2	OR2D3	11	6942667	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	894043	6942667	128063849	22	2739											
DYNC2H1	79659	broad.mit.edu	37	chr11	102999693	102999693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattcaaagtcagaggccaAtgatgttacaatctgcctta	8	8	3	3			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:102999693A>G	uc001phn.1	+	12	2056	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	DYNC2H1_uc009yxe.1_Missense_Mutation_p.M638V|DYNC2H1_uc001pho.2_Missense_Mutation_p.M638V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	638	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCAGAGGCCAATGATGTTACA	0.259													3	35					0	0	1	0	0	G	102999693	A	G	102999693	3	3	161	1	0	0	0	0	1	0	0	0	4846	101	4	3	1962	3	DYNC2H1	11	102999693	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08	96057026	102999693	32006823	23	2740											
SLC38A4	55089	broad.mit.edu	37	chr12	47172402	47172402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagccctgcaggattgCggtgggtgtaatccatcatg	12	11	1	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:47172402C>T	uc001rpi.2	-	10	1274	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC38A4_uc001rpj.2_Missense_Mutation_p.R292H	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	292					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.R292H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGCAGGATTGCGGTGGGTGTA	0.458													7	72					0	0	1	0	0	T	47172402	C	T	47172402	3	4	161	1	0	0	0	0	1	0	0	0	14606	768	27	1	796	1	SLC38A4	12	47172402	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		47172402	86679493	24	2741											
CPSF6	11052	broad.mit.edu	37	chr12	69651614	69651614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaggacggggccgttttcCaggggctgttcctggtgggg	19	8	0	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:69651614C>T	uc001suu.4	+	4	733	c.623C>T	c.(622-624)cCa>cTa	p.P208L	CPSF6_uc001sut.4_Missense_Mutation_p.P208L|CPSF6_uc010stk.2_5'Flank	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	208	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGCCGTTTTCCAGGGGCTGTT	0.542													14	101					0	0	1	0	0	T	69651614	C	T	69651614	3	4	161	1	0	0	0	0	1	0	0	0	3829	594	21	2	641	2	CPSF6	12	69651614	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	22479212	69651614	64200281	25	2742											
CHRM5	1133	broad.mit.edu	37	chr15	34355791	34355791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaagccactggcccaagCgccaattgggccaaagctga	10	15	0	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:34355791C>T	uc001zhk.1	+	2	1543	c.873C>T	c.(871-873)agC>agT	p.S291S	CHRM5_uc001zhl.1_Silent_p.S291S|CHRM5_uc021sir.1_Silent_p.S291S	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	291					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTGGCCCAAGCGCCAATTGGG	0.632													6	65					0	0	1	0	0	T	34355791	C	T	34355791	2	4	161	1	0	0	0	0	0	0	0	1	3380	767	27	1		1	CHRM5	15	34355791	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		34355791	68175601	26	2743											
DNAJC17	55192	broad.mit.edu	37	chr15	41071505	41071505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcctgaccttgtcatatgCagcctggcaggagaaagggg	13	9	1	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:41071505C>A	uc001zms.2	-	3	243	c.211G>T	c.(211-213)Gca>Tca	p.A71S	DNAJC17_uc010bbz.2_Non-coding_Transcript|DNAJC17_uc010bca.2_Non-coding_Transcript|DNAJC17_uc010bcb.2_Non-coding_Transcript	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 17 (DNAJC17), mRNA.	71	J.				protein folding		RNA binding|heat shock protein binding|nucleotide binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TTGTCATATGCAGCCTGGCAG	0.542													7	60					0	0	1	0	0	A	41071505	C	A	41071505	3	1	161	1	0	0	0	0	1	0	0	0	4636	710	25	4	735	4	DNAJC17	15	41071505	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	6715714	41071505	61459887	27	2744											
PCSK6	5046	broad.mit.edu	37	chr15	101972253	101972253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagggcctgcgggtcacttCgcacctgtctcttcaccctt	9	15	3	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:101972253C>T	uc002bxa.2	-	3	766	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	PCSK6_uc010bpd.3_Missense_Mutation_p.R22Q|PCSK6_uc002bwy.3_Missense_Mutation_p.R151Q|PCSK6_uc010bpe.3_Missense_Mutation_p.R148Q|PCSK6_uc002bxb.2_Missense_Mutation_p.R151Q|PCSK6_uc002bxc.1_Missense_Mutation_p.R151Q|PCSK6_uc002bxd.1_Missense_Mutation_p.R151Q|PCSK6_uc002bxe.3_Missense_Mutation_p.R151Q|PCSK6_uc002bxg.1_Missense_Mutation_p.R151Q	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	152	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.R151Q(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGGTCACTTCGCACCTGTCT	0.483													3	14					0	0	1	0	0	T	101972253	C	T	101972253	3	4	161	1	0	0	0	0	1	0	0	0	11604	884	31	1	3013	1	PCSK6	15	101972253	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	60900748	101972253	559139	28	2745											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39280056	39280056	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtcctgcagcaggtggtctGacagcagctggggcggcagc	18	11	1	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr17:39280056G>C	uc002hwa.3	-	0	364	c.319C>G	c.(319-321)Cag>Gag	p.Q107E		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	107	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1).			keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTGGTCTGACAGCAGCTG	0.677													9	71					0	0	1	0	0	C	39280056	G	C	39280056	3	2	161	1	0	0	0	0	1	0	0	0	8550	1299	45	4	290	4	KRTAP4-12	17	39280056	Missense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		39280056	41915154	29	2746											
CIDEA	1149	broad.mit.edu	37	chr18	12274153	12274153	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggaatagcgagagtcacctTcgacttgtacaggctgaacc	12	10	1	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr18:12274153T>A	uc002kqu.4	+	3	950	c.494T>A	c.(493-495)tTc>tAc	p.F165Y	CIDEA_uc002kqt.4_Missense_Mutation_p.F131Y|CIDEA_uc010dlc.3_Non-coding_Transcript			O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 2, non-coding RNA.	131					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGAGTCACCTTCGACTTGTAC	0.597													11	65					0	0	1	0	0	A	12274153	T	A	12274153	3	1	161	1	0	0	0	0	1	0	0	0	3425	1783	62	5	550	5	CIDEA	18	12274153	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08		12274153	65803095	30	2747											
SIX5	147912	broad.mit.edu	37	chr19	46270388	46270388	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttcggctggactcgtcctCagtcgtgggattcccatcag	11	13	2	0			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:46270388C>G	uc002pdb.3	-	1	1224	c.829G>C	c.(829-831)Gag>Cag	p.E277Q		NM_175875	NP_787071	Q8N196	SIX5_HUMAN	Homo sapiens SIX homeobox 5 (SIX5), mRNA.	277						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.E277Q(2)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GACTCGTCCTCAGTCGTGGGA	0.677													5	8					0	0	1	0	0	G	46270388	C	G	46270388	3	3	161	1	0	0	0	0	1	0	0	0	14350	835	29	4	1398	4	SIX5	19	46270388	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		46270388	12858595	31	2748											
HAS1	3036	broad.mit.edu	37	chr19	52217155	52217155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcccgcgtagaacagaCgcagcacagtggccgccacg	15	15	0	2			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:52217155C>T	uc002pxn.1	-	3	1296	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H	HAS1_uc010epc.1_Missense_Mutation_p.R21H|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Missense_Mutation_p.R421H|HAS1_uc002pxp.1_Missense_Mutation_p.R420H	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	421					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTAGAACAGACGCAGCACAGT	0.701													13	15					0	0	1	0	0	T	52217155	C	T	52217155	3	4	161	1	0	0	0	0	1	0	0	0	6961	536	19	1	478	1	HAS1	19	52217155	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	5946767	52217155	6911828	32	2749											
C20orf160	140706	broad.mit.edu	37	chr20	30602787	30602787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcagcgtgagccgccgGcccctgcactcgatgcccct	13	17	0	1			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr20:30602787G>A	uc002wxf.2	+	1	124	c.111G>A	c.(109-111)cgG>cgA	p.R37R		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	37										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						TGAGCCGCCGGCCCCTGCACT	0.632													5	80					0	0	1	0	0	A	30602787	G	A	30602787	2	1	161	1	0	0	0	0	0	0	0	1	2093	1190	42	2		2	C20orf160	20	30602787	Silent	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		30602787	32422733	33	2750											
NUP133	55746	broad.mit.edu	37	chr1	229623237	229623237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcattaaagacaattttctCctggggaagagaaaatttcc	8	7	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr1:229623237C>T	uc001htn.3	-	9	1410	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	440					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAATTTTCTCCTGGGGAAGA	0.413													36	50					0	0	1	0	0	T	229623237	C	T	229623237	3	4	162	1	0	0	0	0	1	0	0	0	10754	864	30	2	2220	2	NUP133	1	229623237	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		229623237	19627384	1	2751											
IL18RAP	8807	broad.mit.edu	37	chr2	103059671	103059671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttcaggaaagcctttaActattagctgcaaagcacga	7	9	1	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:103059671A>C	uc002tbx.3	+	7	1292	c.808A>C	c.(808-810)Act>Cct	p.T270P	IL18RAP_uc010fiz.3_Missense_Mutation_p.T128P	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	270	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAAGCCTTTAACTATTAGCTG	0.438													16	48					0	0	1	0	0	C	103059671	A	C	103059671	3	2	162	1	0	0	0	0	1	0	0	0	7648	43	2	5	830	5	IL18RAP	2	103059671	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		103059671	140139702	2	2752											
TTN	7273	broad.mit.edu	37	chr2	179612467	179612467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctcatctaatttaggaAtattttgagaaaaactagtt	7	5	2	1			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:179612467A>G	uc002unb.2	-	45	14885	c.14660T>C	c.(14659-14661)aTt>aCt	p.I4887T	TTN_uc021vsy.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant novex-3, mRNA.	1010	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTTAGGAATATTTTGAGA	0.378													10	33					0	0	1	0	0	G	179612467	A	G	179612467	3	3	162	1	0	0	0	0	1	0	0	0	16732	101	4	3	95637	3	TTN	2	179612467	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08	76552796	179612467	63586906	3	2753											
XRCC5	7520	broad.mit.edu	37	chr2	216977742	216977742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaactttgtttccaggcaGctgttgtgctgtgtatggac	13	7	0	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:216977742G>A	uc002vfy.3	+	1	165	c.25G>A	c.(25-27)Gct>Act	p.A9T		NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	9					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTCCAGGCAGCTGTTGTGCT	0.398								Non-homologous end-joining					34	60					0	0	1	0	0	A	216977742	G	A	216977742	3	1	162	1	0	0	0	0	1	0	0	0	17453	971	34	2	31	2	XRCC5	2	216977742	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08	37365275	216977742	26221631	4	2754											
PDE12	201626	broad.mit.edu	37	chr3	57543196	57543196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgacagcttggtacccGccctagaggccttcgggctc	11	14	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr3:57543196G>A	uc003diw.4	+	0	1216	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	PDE12_uc003div.3_Missense_Mutation_p.A364T	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	364							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTTGGTACCCGCCCTAGAGGC	0.557													3	43					0	0	1	0	0	A	57543196	G	A	57543196	3	1	162	1	0	0	0	0	1	0	0	0	11632	1087	38	1	1092	1	PDE12	3	57543196	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		57543196	140479234	5	2755											
GPR98	84059	broad.mit.edu	37	chr5	89923208	89923208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactcataattccagtagttCgtggaaaggacaacaatgga	9	7	1	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr5:89923208C>T	uc003kju.3	+	6	949	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	285					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R285C(2)|p.V284V(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCAGTAGTTCGTGGAAAGGA	0.398													5	96					0	0	1	0	0	T	89923208	C	T	89923208	3	4	162	1	0	0	0	0	1	0	0	0	6721	884	31	1	879	1	GPR98	5	89923208	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		89923208	90992052	6	2756											
GRIK2	2898	broad.mit.edu	37	chr6	102307352	102307352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatggaatggaatggttcGtgaactaattgatcatgtaa	10	4	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr6:102307352G>A	uc003pqp.4	+	9	1801	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	GRIK2_uc003pqn.3_Missense_Mutation_p.R503H|GRIK2_uc010kcw.3_Missense_Mutation_p.R503H|GRIK2_uc003pqo.4_Missense_Mutation_p.R503H|GRIK2_uc021zdk.1_Missense_Mutation_p.R503H|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	503					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGAATGGTTCGTGAACTAATT	0.353													7	49					0	0	1	0	0	A	102307352	G	A	102307352	3	1	162	1	0	0	0	0	1	0	0	0	6774	1145	40	1	1546	1	GRIK2	6	102307352	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		102307352	68807715	7	2757											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	45					0	0	1	0	0	T	140453136	A	T	140453136	3	4	162	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		140453136	18685527	8	2758											
PKHD1L1	93035	broad.mit.edu	37	chr8	110410703	110410703	+	Frame_Shift_Del	DEL	T	T	-													tataggtgaaccttgtgataTtttgaatgtcacagaaaata							TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr8:110410703delT	uc003yne.3	+	11	1042	c.938delT	c.(937-939)attfs	p.I313fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	313	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTGTGATATTTTGAATGTC	0.368										HNSCC(38;0.096)			2	4	---	---	---	---						-	110410703	T	-	110410703	7	5	162	1	0	1	0	1	0	0	0	0	11972	1493	52	0	984	0	PKHD1L1	8	110410703	Frame_Shift_Del	DEL	T	TCGA-EL-A3CS-01A-21D-A19J-08		110410703	35953319	9	2759											
JMJD1C	221037	broad.mit.edu	37	chr10	64973686	64973686	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtacctggatttaaacaGgttctatgagatgaggagtg	14	4	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr10:64973686G>T	uc001jmn.3	-	7	2541	c.2241C>A	c.(2239-2241)acC>acA	p.T747T	JMJD1C_uc001jml.3_Silent_p.T528T|JMJD1C_uc001jmm.3_Silent_p.T459T|JMJD1C_uc010qiq.2_Silent_p.T565T|JMJD1C_uc009xpi.3_Silent_p.T565T|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Silent_p.T459T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	747					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATTTAAACAGGTTCTATGAG	0.438													27	39					0	0	1	0	0	T	64973686	G	T	64973686	2	4	162	1	0	0	0	0	0	0	0	1	7950	987	35	4		4	JMJD1C	10	64973686	Silent	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		64973686	70561061	10	2760											
DNHD1	144132	broad.mit.edu	37	chr11	6588368	6588368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccacttttctgtatgAgcccagagaactggctggca	11	11	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:6588368A>C	uc001mdw.4	+	35	12193	c.11629A>C	c.(11629-11631)Agc>Cgc	p.S3877R	DNHD1_uc001mea.4_Missense_Mutation_p.S146R|DNHD1_uc001meb.3_Missense_Mutation_p.S145R|DNHD1_uc001mec.3_Missense_Mutation_p.S145R|DNHD1_uc010rao.2_Missense_Mutation_p.S135R|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	3877					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTTCTGTATGAGCCCAGAGAA	0.537													8	79					0	0	1	0	0	C	6588368	A	C	6588368	3	2	162	1	0	0	0	0	1	0	0	0	4668	304	11	5	11772	5	DNHD1	11	6588368	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		6588368	128418148	11	2761											
MRPL16	54948	broad.mit.edu	37	chr11	59573896	59573896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatgggctcagtactttcCgtatgcccagcatgttggca	10	11	1	0	rs117253311	by1000genomes	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:59573896C>T	uc001noh.2	-	3	894	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	Homo sapiens mitochondrial ribosomal protein L16 (MRPL16), nuclear gene encoding mitochondrial protein, mRNA.	227							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CAGTACTTTCCGTATGCCCAG	0.463													5	143					0	0	1	0	0	T	59573896	C	T	59573896	3	4	162	1	0	0	0	0	1	0	0	0	9781	652	23	1	79	1	MRPL16	11	59573896	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08	52985528	59573896	75432620	12	2762											
C12orf40	283461	broad.mit.edu	37	chr12	40076926	40076926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacgattactacccaagCagctctgaaagaaaaggttg	10	8	1	3			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr12:40076926C>T	uc001rmc.3	+	7	1367	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	400										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTACCCAAGCAGCTCTGAAA	0.294													19	25					0	0	1	0	0	T	40076926	C	T	40076926	2	4	162	1	0	0	0	0	0	0	0	1	1686	709	25	2		2	C12orf40	12	40076926	Silent	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		40076926	93774969	13	2763											
ADAM21	8747	broad.mit.edu	37	chr14	70924423	70924423	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatagtctgcggtttgggggCcagaaacacgttgttcatat	12	7	2	1			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:70924423C>A	uc001xmd.3	+	1	465	c.207C>A	c.(205-207)ggC>ggA	p.G69G	ADAM21_uc021rvq.1_Silent_p.G69G	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	69					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTTTGGGGGCCAGAAACACG	0.527													17	152					0	0	1	0	0	A	70924423	C	A	70924423	2	1	162	1	0	0	0	0	0	0	0	1	243	726	26	4		4	ADAM21	14	70924423	Silent	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		70924423	36425117	14	2764											
WARS	7453	broad.mit.edu	37	chr14	100808866	100808866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggctggtttaggatagcCgatcctgggggcgacgtccc	16	11	0	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:100808866C>A	uc001yhh.1	-	8	1363	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	WARS_uc001yhi.1_Missense_Mutation_p.G287C|WARS_uc001yhg.2_Missense_Mutation_p.G328C|WARS_uc001yhl.1_Missense_Mutation_p.G328C|WARS_uc001yhk.1_Missense_Mutation_p.G287C	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	328					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTAGGATAGCCGATCCTGGGG	0.582													3	24					0	0	1	0	0	A	100808866	C	A	100808866	3	1	162	1	0	0	0	0	1	0	0	0	17246	652	23	4	445	4	WARS	14	100808866	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08	29884443	100808866	6540674	15	2765											
HP	3240	broad.mit.edu	37	chr16	72090087	72090087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgtcattgccctcctGctctggggacagctttttgc	12	12	2	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr16:72090087G>A	uc002fbr.4	+	1	77	c.33G>A	c.(31-33)ctG>ctA	p.L11L	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.L11L|HP_uc021tld.1_Silent_p.L11L|HP_uc002fbt.4_Silent_p.L11L	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	11					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTGCCCTCCTGCTCTGGGGAC	0.547													24	37					0	0	1	0	0	A	72090087	G	A	72090087	2	1	162	1	0	0	0	0	0	0	0	1	7327	1306	46	2		2	HP	16	72090087	Silent	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		72090087	18264666	16	2766											
RPRD1A	55197	broad.mit.edu	37	chr18	33647274	33647274	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acgcgagtgtttacggtggtGaatgagccacagggacaagg	16	7	0	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr18:33647274G>C	uc002kzg.3	-	0	100	c.94C>G	c.(94-96)Cac>Gac	p.H32D	RPRD1A_uc002kze.1_5'UTR|RPRD1A_uc010dmw.3_5'UTR|RPRD1A_uc010dmx.3_Missense_Mutation_p.H32D	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.	32	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTACGGTGGTGAATGAGCCAC	0.627													4	10					0	0	1	0	0	C	33647274	G	C	33647274	3	2	162	1	0	0	0	0	1	0	0	0	13615	1290	45	4	872	4	RPRD1A	18	33647274	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		33647274	44429974	17	2767											
SLC1A6	6511	broad.mit.edu	37	chr19	15061128	15061128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgaagctccagctccCgctgagacaagtgctcgatg	10	14	0	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr19:15061128C>T	uc002naa.1	-	8	1581	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	SLC1A6_uc010dzu.1_Missense_Mutation_p.R447Q|SLC1A6_uc010xod.1_Missense_Mutation_p.R461Q	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	525					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CTCCAGCTCCCGCTGAGACAA	0.612													20	42					0	0	1	0	0	T	15061128	C	T	15061128	3	4	162	1	0	0	0	0	1	0	0	0	14436	652	23	1	124	1	SLC1A6	19	15061128	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		15061128	44067855	18	2768											
HNF4A	3172	broad.mit.edu	37	chr20	43056987	43056987	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagggtcccccagcgAtgcaccccatgcccaccacc	8	21	0	0			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr20:43056987A>T	uc002xma.3	+	8	1231	c.1142A>T	c.(1141-1143)gAt>gTt	p.D381V	HNF4A_uc002xlu.3_Missense_Mutation_p.D359V|HNF4A_uc002xlv.3_Missense_Mutation_p.D359V|HNF4A_uc010ggq.3_Missense_Mutation_p.D374V|HNF4A_uc002xlz.3_Missense_Mutation_p.D381V	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	381					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCAGCGATGCACCCCAT	0.597													10	47					0	0	1	0	0	T	43056987	A	T	43056987	3	4	162	1	0	0	0	0	1	0	0	0	7253	333	12	5	1354	5	HNF4A	20	43056987	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		43056987	19968533	19	2769											
FBLN1	2192	broad.mit.edu	37	chr22	45972977	45972977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaagcgttacatggacgGcatgaccgtgggtgagtggc	15	9	1	2			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr22:45972977G>A	uc003bgj.1	+	15	2108	c.1961G>A	c.(1960-1962)gGc>gAc	p.G654D		NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	654					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.D653E(1)|p.D653D(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACATGGACGGCATGACCGTG	0.582													3	33					0	0	1	0	0	A	45972977	G	A	45972977	3	1	162	1	0	0	0	0	1	0	0	0	5698	1203	42	2	2503	2	FBLN1	22	45972977	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		45972977	5331589	20	2770											
TP73	7161	broad.mit.edu	37	chr1	3624151	3624151	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagcaccatggaccagatGagcagccgcgcggcctcggc	14	15	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:3624151G>A	uc001akp.3	+	3	335	c.225G>A	c.(223-225)atG>atA	p.M75I	TP73_uc021ofb.1_Missense_Mutation_p.M75I|TP73_uc021ofc.1_Missense_Mutation_p.M75I|TP73_uc021ofd.1_Missense_Mutation_p.M75I|TP73_uc021ofe.1_Missense_Mutation_p.M75I|TP73_uc021off.1_Missense_Mutation_p.M75I|TP73_uc010nzj.2_Missense_Mutation_p.M26I|TP73_uc021ofg.1_Missense_Mutation_p.M26I|TP73_uc021ofh.1_Missense_Mutation_p.M26I|TP73_uc021ofi.1_Missense_Mutation_p.M26I|TP73_uc001akr.3_Missense_Mutation_p.M26I|TP73_uc009vlk.2_Missense_Mutation_p.M26I|TP73_uc001aks.3_Missense_Mutation_p.M26I|TP73_uc009vll.3_Missense_Mutation_p.M4I|TP73_uc010nzk.2_Missense_Mutation_p.M4I	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	75					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGGACCAGATGAGCAGCCGCG	0.667													21	198					0	0	1	0	0	A	3624151	G	A	3624151	3	1	163	1	0	0	0	0	1	0	0	0	16390	1290	45	2	278	2	TP73	1	3624151	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		3624151	245626470	1	2771											
WNT4	54361	broad.mit.edu	37	chr1	22448049	22448049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgaagagatggcgtacaCgaaggccgcctcccgagtcc	13	14	0	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:22448049C>T	uc001bfs.4	-	2	438	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	WNT4_uc010odt.2_Missense_Mutation_p.V49M	NM_030761	NP_110388	P56705	WNT4_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA.	112					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation	Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ATGGCGTACACGAAGGCCGCC	0.657													4	52					0	0	1	0	0	T	22448049	C	T	22448049	3	4	163	1	0	0	0	0	1	0	0	0	17387	536	19	1	733	1	WNT4	1	22448049	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	18823898	22448049	226802572	2	2772											
RCC1	1104	broad.mit.edu	37	chr1	28863285	28863285	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catacagcctgggccgggctGagtatgggcggctgggcctt	17	11	0	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:28863285G>A	uc001bqf.2	+	9	1142	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	RCC1_uc001bqb.2_Missense_Mutation_p.E322K|RCC1_uc001bqa.2_Missense_Mutation_p.E322K|RCC1_uc001bqc.2_Missense_Mutation_p.E322K|RCC1_uc001bqe.2_Missense_Mutation_p.E339K|RCC1_uc001bqg.2_Missense_Mutation_p.E322K	NM_001048194	NP_001041659	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 1, mRNA.	322					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGGGCTGAGTATGGGCG	0.612													42	161					0	0	1	0	0	A	28863285	G	A	28863285	3	1	163	1	0	0	0	0	1	0	0	0	13173	1291	45	2	1091	2	RCC1	1	28863285	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	6415236	28863285	220387336	3	2773											
ADAM30	11085	broad.mit.edu	37	chr1	120438365	120438365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtactttgggtgtttatAggatccaggaaagtccctta	10	7	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:120438365A>G	uc001eij.3	-	0	783	c.595T>C	c.(595-597)Tat>Cat	p.Y199H		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	199					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGGTGTTTATAGGATCCAGGA	0.408													3	119					0	0	1	0	0	G	120438365	A	G	120438365	3	3	163	1	0	0	0	0	1	0	0	0	248	420	15	3	1781	3	ADAM30	1	120438365	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	91575080	120438365	128812256	4	2774											
PIAS3	10401	broad.mit.edu	37	chr1	145584527	145584527	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggtgctaaggagcccTgctatgggcacgttgggtgg	16	10	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:145584527T>A	uc001eoc.1	+	11	1585	c.1494T>A	c.(1492-1494)ccT>ccA	p.P498P	PIAS3_uc001eod.1_Silent_p.P167P	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	498					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAGGAGCCCTGCTATGGGCA	0.597													8	225					0	0	1	0	0	A	145584527	T	A	145584527	2	1	163	1	0	0	0	0	0	0	0	1	11877	1567	55	5		5	PIAS3	1	145584527	Silent	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	25146162	145584527	103666094	5	2775											
PI4KB	5298	broad.mit.edu	37	chr1	151288518	151288518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccttggagttatacaggTatgaaatggccatggagatg	13	6	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151288518T>C	uc001exr.3	-	2	1115	c.476A>G	c.(475-477)tAc>tGc	p.Y159C	PI4KB_uc001exs.3_Missense_Mutation_p.Y147C|PI4KB_uc001exu.3_Missense_Mutation_p.Y147C|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Missense_Mutation_p.Y147C	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	147					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTATACAGGTATGAAATGGC	0.498													4	82					0	0	1	0	0	C	151288518	T	C	151288518	3	2	163	1	0	0	0	0	1	0	0	0	11874	1638	57	3	2054	3	PI4KB	1	151288518	Missense_Mutation	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	5703991	151288518	97962103	6	2776											
RFX5	5993	broad.mit.edu	37	chr1	151316350	151316350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggttacttctgggccCatttctggctgaagtgggga	16	8	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151316350C>T	uc001exv.1	-	8	778	c.564G>A	c.(562-564)atG>atA	p.M188I	RFX5_uc001exw.1_Missense_Mutation_p.M188I|RFX5_uc010pcx.1_Missense_Mutation_p.M148I	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	188						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTCTGGGCCCATTTCTGGCT	0.527													17	54					0	0	1	0	0	T	151316350	C	T	151316350	3	4	163	1	0	0	0	0	1	0	0	0	13266	594	21	2	1298	2	RFX5	1	151316350	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	27832	151316350	97934271	7	2777											
TMEM63A	9725	broad.mit.edu	37	chr1	226036682	226036682	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtgagcagcagcaccagGaaggtgaacagagtggcggg	18	7	0	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:226036682G>A	uc001hpm.2	-	21	2725	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	701						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCAGCACCAGGAAGGTGAACA	0.612													4	10					0	0	1	0	0	A	226036682	G	A	226036682	2	1	163	1	0	0	0	0	0	0	0	1	16187	1165	41	2		2	TMEM63A	1	226036682	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	74720332	226036682	23213939	8	2778											
SPDYA	245711	broad.mit.edu	37	chr2	29063092	29063092	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagagaacgttctgttcatCacagtggagctgtcagaaac	10	8	4	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:29063092C>T	uc002rmj.3	+	6	813	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	SPDYA_uc002rmi.3_Missense_Mutation_p.H203Y|SPDYA_uc002rmk.3_Missense_Mutation_p.H203Y|SPDYA_uc002rml.3_Missense_Mutation_p.H203Y	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	203					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCTGTTCATCACAGTGGAGC	0.398													5	37					0	0	1	0	0	T	29063092	C	T	29063092	3	4	163	1	0	0	0	0	1	0	0	0	15026	826	29	2	625	2	SPDYA	2	29063092	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		29063092	214136281	9	2779											
EHBP1	23301	broad.mit.edu	37	chr2	63091877	63091877	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attttatagaacctatcactGaaacagcttcacctagaaaa	4	9	2	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:63091877G>A	uc002sby.3	+	9	1356	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	EHBP1_uc010fcp.3_Missense_Mutation_p.E257K|EHBP1_uc002sbx.2_Missense_Mutation_p.E257K|EHBP1_uc002sbz.3_Missense_Mutation_p.E257K|EHBP1_uc002scb.3_Missense_Mutation_p.E257K	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	292						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTATCACTGAAACAGCTTC	0.299													13	67					0	0	1	0	0	A	63091877	G	A	63091877	3	1	163	1	0	0	0	0	1	0	0	0	4975	1291	45	2	908	2	EHBP1	2	63091877	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	34028785	63091877	180107496	10	2780											
LAMB2	3913	broad.mit.edu	37	chr3	49169963	49169963	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtagggctgggggccattCaggccacaagtggatgaggc	17	9	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:49169963C>T	uc003cwe.3	-	1	509	c.210G>A	c.(208-210)ctG>ctA	p.L70L	LAMB2_uc003cwf.1_Silent_p.L70L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	70	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGGCCATTCAGGCCACAAG	0.662													22	76					0	0	1	0	0	T	49169963	C	T	49169963	2	4	163	1	0	0	0	0	0	0	0	1	8611	813	29	2		2	LAMB2	3	49169963	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		49169963	148852467	11	2781											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527264	64527264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggcacctttaagtcTttttacctccttgcaattct	4	12	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:64527264T>C	uc003dmg.3	-	33	5262	c.5230A>G	c.(5230-5232)Aga>Gga	p.R1744G	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1716G|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R655G	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1744	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCTTTAAGTCTTTTTACCTCC	0.383													3	180					0	0	1	0	0	C	64527264	T	C	64527264	3	2	163	1	0	0	0	0	1	0	0	0	273	1617	56	3	601	3	ADAMTS9	3	64527264	Missense_Mutation	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	15357301	64527264	133495166	12	2782											
KPNA1	3836	broad.mit.edu	37	chr3	122145978	122145978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggccttttggtagatctCctggttttcatgactctgta	9	8	3	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:122145978C>T	uc003efe.2	-	13	1659	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	KPNA1_uc003efb.1_Missense_Mutation_p.E290K|KPNA1_uc003efc.1_Missense_Mutation_p.E290K|KPNA1_uc011bjr.1_Missense_Mutation_p.E290K|KPNA1_uc010hrh.2_Missense_Mutation_p.E290K	NM_002264	NP_002255	P52294	IMA1_HUMAN	Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.	491					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGGTAGATCTCCTGGTTTTCA	0.378													16	55					0	0	1	0	0	T	122145978	C	T	122145978	3	4	163	1	0	0	0	0	1	0	0	0	8429	864	30	2	149	2	KPNA1	3	122145978	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	57618714	122145978	75876452	13	2783											
ALG3	10195	broad.mit.edu	37	chr3	183966696	183966697	+	Missense_Mutation	DNP	GG	GG	AA													tctgcctgggccgcggaaccGgaccggccgcgtttccgcag							TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:183966696_183966697GG>AA	uc003fne.2	-	0	63_64	c.32_33CC>TT	c.(31-33)tcc>tTT	p.S11F	ALG3_uc011brc.1_5'UTR|ALG3_uc011brd.1_5'UTR|ALG3_uc011bre.1_Intron|ALG3_uc011brf.1_5'UTR|ECE2_uc003fnh.4_5'Flank|ECE2_uc003fni.4_5'Flank	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	11					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCGGAACCGGACCGGCCGCG	0.698													4	7					0	0	1	0	0	AA	183966697	GG	AA	183966696	3	1	163	1	0	0	0	0	1	0	0	0	520	1103	39	1	1319	1	ALG3	3	183966696	Missense_Mutation	DNP	GG	TCGA-EL-A3CT-01A-12D-A202-08	61820718	183966696	14055734	14	2784											
NAAA	27163	broad.mit.edu	37	chr4	76861902	76861902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agggccccagctcacccgatGacttgcgccatcgcggcgcg	13	17	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr4:76861902G>A	uc003hjb.3	-	0	265	c.201C>T	c.(199-201)gtC>gtT	p.V67V	NAAA_uc003hja.3_Silent_p.V67V|NAAA_uc003hjc.4_Silent_p.V67V|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_5'Flank|NAAA_uc010iiz.1_Silent_p.V67V	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	67					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CTCACCCGATGACTTGCGCCA	0.687													17	24					0	0	1	0	0	A	76861902	G	A	76861902	2	1	163	1	0	0	0	0	0	0	0	1	10127	1277	45	2		2	NAAA	4	76861902	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		76861902	114292374	15	2785											
PELO	53918	broad.mit.edu	37	chr5	52096595	52096595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgggatagtgtggtactgGagcgcatcgagcaggcctgt	17	7	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:52096595G>A	uc003jos.3	+	1	1352	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	123					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TGTGGTACTGGAGCGCATCGA	0.587													16	55					0	0	1	0	0	A	52096595	G	A	52096595	3	1	163	1	0	0	0	0	1	0	0	0	11724	1175	41	2	369	2	PELO	5	52096595	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		52096595	128818665	16	2786											
MATR3	9782	broad.mit.edu	37	chr5	138651747	138651747	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttattatgatttatattttAtgtcttcactttactagggg	6	4	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:138651747A>T	uc003lec.3	+	0	3555	c.30A>T	c.(28-30)ttA>ttT	p.L10F	MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Intron|MATR3_uc010jfb.3_Intron|MATR3_uc003ldw.3_Intron|MATR3_uc003ldx.3_Intron|MATR3_uc003ldy.3_Missense_Mutation_p.L10F|MATR3_uc003ldz.3_Intron|MATR3_uc011czb.2_Intron|MATR3_uc003leb.3_Intron			P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 5, mRNA.	0						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTATATTTTATGTCTTCACT	0.388													5	77					0	0	1	0	0	T	138651747	A	T	138651747	3	4	163	1	0	0	0	0	1	0	0	0	9337	464	16	5		5	MATR3	5	138651747	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	86555152	138651747	42263513	17	2787											
PCDHGC5	56097	broad.mit.edu	37	chr5	140810404	140810404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggactctgtgggagacCggatgcacccagatacgcta	14	11	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:140810404C>T	uc003lkt.2	+	0	247	c.78C>T	c.(76-78)acC>acT	p.T26T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.T26T	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	28					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGAGACCGGATGCACCC	0.582													11	202					0	0	1	0	0	T	140810404	C	T	140810404	2	4	163	1	0	0	0	0	0	0	0	1	11571	639	23	1		1	PCDHGC5	5	140810404	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2158657	140810404	40104856	18	2788											
ODZ2	57451	broad.mit.edu	37	chr5	167553841	167553841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggctggacaggcgcagcGtgtgaccagcgcgtgtgcca	18	11	0	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167553841G>A	uc010jjd.3	+	11	2292	c.2292G>A	c.(2290-2292)gcG>gcA	p.A764A	ODZ2_uc003lzr.4_Silent_p.A532A|ODZ2_uc003lzt.4_Silent_p.A128A|ODZ2_uc010jje.3_Silent_p.A35A	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.S763Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CAGGCGCAGCGTGTGACCAGC	0.587													4	30					0	0	1	0	0	A	167553841	G	A	167553841	2	1	163	1	0	0	0	0	0	0	0	1	10835	1132	40	1		1	ODZ2	5	167553841	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	26743437	167553841	13361419	19	2789											
WWC1	23286	broad.mit.edu	37	chr5	167887657	167887657	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacttttctcttgcagctGaatcggagtgatagtgacag	11	7	1	4			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167887657G>A	uc011den.2	+	19	2919	c.2826G>A	c.(2824-2826)ctG>ctA	p.L942L	WWC1_uc003lzv.3_Silent_p.L942L|WWC1_uc003lzu.3_Silent_p.L942L|WWC1_uc003lzw.3_Silent_p.L741L|WWC1_uc010jjf.1_Silent_p.L214L	NM_001161661	NP_001155133	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 1, mRNA.	942	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTTGCAGCTGAATCGGAGTG	0.517													16	37					0	0	1	0	0	A	167887657	G	A	167887657	2	1	163	1	0	0	0	0	0	0	0	1	17408	1277	45	2		2	WWC1	5	167887657	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	333816	167887657	13027603	20	2790											
GFOD1	54438	broad.mit.edu	37	chr6	13487069	13487069	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccctcgtctttcagcagcggGatgatgacacgggccgtgag	14	12	2	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:13487069G>C	uc003nat.2	-	0	801	c.54C>G	c.(52-54)atC>atG	p.I18M	GFOD1_uc003nas.2_5'Flank|GFOD1_uc003nav.3_5'Flank|GFOD1_uc021ylu.1_Missense_Mutation_p.I18M	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	18						extracellular region	binding|oxidoreductase activity	p.I17T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCAGCAGCGGGATGATGACAC	0.647													16	105					0	0	1	0	0	C	13487069	G	C	13487069	3	2	163	1	0	0	0	0	1	0	0	0	6343	1164	41	4	1126	4	GFOD1	6	13487069	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		13487069	157627998	21	2791											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225757	26225757	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accatcatgcctaaagacatCcagcttgcccgccgcattcg	7	16	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:26225757C>T	uc003nhb.2	+	1	735	c.375C>T	c.(373-375)atC>atT	p.I125I	HIST1H3E_uc003nhc.4_Silent_p.I125I	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	125					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CTAAAGACATCCAGCTTGCCC	0.542											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	88					0	0	1	0	0	T	26225757	C	T	26225757	2	4	163	1	0	0	0	0	0	0	0	1	7159	845	30	2		2	HIST1H3E	6	26225757	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	12738688	26225757	144889310	22	2792											
OR5V1	81696	broad.mit.edu	37	chr6	29323725	29323725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttgagaggaggtgcAccatcatctgggggacattg	13	7	3	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:29323725A>G	uc011dlo.2	-	0	330	c.248T>C	c.(247-249)gTg>gCg	p.V83A		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V83A(2)|p.M82I(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGAGGTGCACCATCATCTG	0.433													17	147					0	0	1	0	0	G	29323725	A	G	29323725	3	3	163	1	0	0	0	0	1	0	0	0	11184	159	6	3	720	3	OR5V1	6	29323725	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	3097968	29323725	141791342	23	2793											
POU5F1	5460	broad.mit.edu	37	chr6	31133468	31133468	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggcagatggtcgtttggctGaataccttccctgggggagg	16	9	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31133468G>A	uc003nsv.3	-	2	591	c.537C>T	c.(535-537)ttC>ttT	p.F179F	POU5F1_uc003nsu.3_Silent_p.F8F|POU5F1_uc021yuj.1_Silent_p.F8F|POU5F1_uc011dnf.1_5'Flank	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.	179	POU-specific.				BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						TCGTTTGGCTGAATACCTTCC	0.557			T	EWSR1	sarcoma								4	25					0	0	1	0	0	A	31133468	G	A	31133468	2	1	163	1	0	0	0	0	0	0	0	1	12281	1281	45	2		2	POU5F1	6	31133468	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1809743	31133468	139981599	24	2794											
NFKBIL1	4795	broad.mit.edu	37	chr6	31516041	31516041	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccgggcccaggccctcctCcagcgacacccaggcctcga	11	20	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31516041C>T	uc003nub.3	+	1	278	c.159C>T	c.(157-159)ctC>ctT	p.L53L	DDX39B_uc003ntv.3_5'Flank|ATP6V1G2_uc003ntz.3_5'Flank|ATP6V1G2_uc003nua.3_5'Flank|ATP6V1G2_uc021yur.1_5'Flank|NFKBIL1_uc011dnr.2_Silent_p.L30L|NFKBIL1_uc011dns.2_Silent_p.L30L|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Silent_p.L53L	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	53					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGGCCCTCCTCCAGCGACACC	0.682													20	57					0	0	1	0	0	T	31516041	C	T	31516041	2	4	163	1	0	0	0	0	0	0	0	1	10381	842	30	2		2	NFKBIL1	6	31516041	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	382573	31516041	139599026	25	2795											
KIAA1244	57221	broad.mit.edu	37	chr6	138583995	138583995	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactgctgcttctgcgccttGaggagctgaaggatggggct	15	9	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:138583995G>A	uc003qhu.3	+	11	1546	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	459					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCTGCGCCTTGAGGAGCTGAA	0.612													9	35					0	0	1	0	0	A	138583995	G	A	138583995	3	1	163	1	0	0	0	0	1	0	0	0	8217	1291	45	2	1421	2	KIAA1244	6	138583995	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	107067954	138583995	32531072	26	2796											
RAB32	10981	broad.mit.edu	37	chr6	146875728	146875728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgagagcagagaacaaatCccagtgttgctgatatatgg	11	7	0	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:146875728C>T	uc003qln.1	+	2	845	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_006834	NP_006825	Q13637	RAB32_HUMAN	Homo sapiens RAB32, member RAS oncogene family (RAB32), mRNA.	222					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GAGAACAAATCCCAGTGTTGC	0.428													10	162					0	0	1	0	0	T	146875728	C	T	146875728	3	4	163	1	0	0	0	0	1	0	0	0	12921	855	30	2	675	2	RAB32	6	146875728	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	8291733	146875728	24239339	27	2797											
DYNLT1	6993	broad.mit.edu	37	chr6	159058168	159058168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaaatcataccgtcagtaGagctgtcccagaagcaggaa	10	9	2	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058168G>A	uc003qrn.2	-	3	327	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_006519	NP_006510	P63172	DYLT1_HUMAN	Homo sapiens dynein, light chain, Tctex-type 1 (DYNLT1), mRNA.	88	Interaction with GNB1 (By similarity).				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	Golgi apparatus|cytoplasmic dynein complex|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		ACCGTCAGTAGAGCTGTCCCA	0.363													9	51					0	0	1	0	0	A	159058168	G	A	159058168	3	1	163	1	0	0	0	0	1	0	0	0	4852	942	33	2	86	2	DYNLT1	6	159058168	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	12182440	159058168	12056899	28	2798			1	10		2	2	19	G		5.232974e-05
DYNLT1	6993	broad.mit.edu	37	chr6	159058186	159058186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagagctgtcccagaagcagGaacttgctgtgtgtaatcca	11	9	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058186G>A	uc003qrn.2	-	3	309	c.245C>T	c.(244-246)tCc>tTc	p.S82F		NM_006519	NP_006510	P63172	DYLT1_HUMAN	Homo sapiens dynein, light chain, Tctex-type 1 (DYNLT1), mRNA.	82	Interaction with GNB1 (By similarity).				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	Golgi apparatus|cytoplasmic dynein complex|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCAGAAGCAGGAACTTGCTGT	0.368													12	54					0	0	1	0	0	A	159058186	G	A	159058186	3	1	163	1	0	0	0	0	1	0	0	0	4852	1174	41	2	104	2	DYNLT1	6	159058186	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	18	159058186	12056881	29	2799			1	10		2	2	19	G		5.232974e-05
EZR	7430	broad.mit.edu	37	chr6	159206498	159206498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattccttccttcacttggaGgaagaaaagtttctgggtga	11	7	2	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159206498G>A	uc003qrt.4	-	3	525	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	EZR_uc011efs.2_Missense_Mutation_p.L72F|EZR_uc003qru.4_Missense_Mutation_p.L104F	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	104	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCACTTGGAGGAAGAAAAGT	0.542			T	ROS1	NSCLC								30	94					0	0	1	0	0	A	159206498	G	A	159206498	3	1	163	1	0	0	0	0	1	0	0	0	5335	1000	35	2	1490	2	EZR	6	159206498	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	148312	159206498	11908569	30	2800											
FIGNL1	63979	broad.mit.edu	37	chr7	50514709	50514709	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgtcactatctgtttgttGagatcctgccaaagttaaaa	7	8	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:50514709G>A	uc003tpd.3	-	3	647	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	FIGNL1_uc003tpb.3_5'UTR|FIGNL1_uc003tpc.3_Nonsense_Mutation_p.Q93*|FIGNL1_uc003tpe.3_Nonsense_Mutation_p.Q93*|FIGNL1_uc010kyy.3_Nonsense_Mutation_p.Q93*|FIGNL1_uc022ada.1_Nonsense_Mutation_p.Q93*	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	93					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCTGTTTGTTGAGATCCTGCC	0.323													30	105					0	0	1	0	0	A	50514709	G	A	50514709	4	1	163	1	0	0	0	0	0	1	0	0	5892	1299	45	2	1751	2	FIGNL1	7	50514709	Nonsense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		50514709	108623954	31	2801											
PTPRZ1	5803	broad.mit.edu	37	chr7	121636594	121636594	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccaaaccaagcatgaaTttttgacagatggctatcaa	8	8	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:121636594T>G	uc003vjy.3	+	8	1482	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	PTPRZ1_uc011knt.2_Missense_Mutation_p.F363V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.F363V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	363	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAAGCATGAATTTTTGACAGA	0.363													31	139					0	0	1	0	0	G	121636594	T	G	121636594	3	3	163	1	0	0	0	0	1	0	0	0	12814	1493	52	5	1121	5	PTPRZ1	7	121636594	Missense_Mutation	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	71121885	121636594	37502069	32	2802											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	87					0	0	1	0	0	T	140453136	A	T	140453136	3	4	163	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	18816542	140453136	18685527	33	2803											
GIMAP4	55303	broad.mit.edu	37	chr7	150269372	150269372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaagaagtgtgagaaaCgcagcagctcatggaaggaa	12	7	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150269372C>T	uc011kuv.2	+	2	338	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc003whl.3_Missense_Mutation_p.R72C	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	72							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTGAGAAACGCAGCAGCTC	0.478													9	53					0	0	1	0	0	T	150269372	C	T	150269372	3	4	163	1	0	0	0	0	1	0	0	0	6381	536	19	1	220	1	GIMAP4	7	150269372	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	9816236	150269372	8869291	34	2804											
CDK5	1020	broad.mit.edu	37	chr7	150753685	150753685	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctttacaatctcaggatcGaggtcaccattgcaactgtc	7	12	2	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150753685G>A	uc003wir.2	-	4	411	c.294C>T	c.(292-294)ctC>ctT	p.L98L	CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Silent_p.L98L|SLC4A2_uc022apz.1_5'Flank|SLC4A2_uc003wit.4_5'Flank	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	98	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCTCAGGATCGAGGTCACCAT	0.517													13	27					0	0	1	0	0	A	150753685	G	A	150753685	2	1	163	1	0	0	0	0	0	0	0	1	3142	1045	37	1		1	CDK5	7	150753685	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	484313	150753685	8384978	35	2805											
EPB49	2039	broad.mit.edu	37	chr8	21926531	21926531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctctccattcacagcgctCgctgtcacccaaatccacat	4	19	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:21926531C>T	uc022asw.1	+	3	292	c.254C>T	c.(253-255)tCg>tTg	p.S85L	EPB49_uc022asq.1_Missense_Mutation_p.S85L|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Missense_Mutation_p.S85L|EPB49_uc022ass.1_Missense_Mutation_p.S60L|EPB49_uc022ast.1_Missense_Mutation_p.S85L|EPB49_uc022asu.1_Missense_Mutation_p.S85L|EPB49_uc022asv.1_Missense_Mutation_p.S85L|EPB49_uc022asx.1_Missense_Mutation_p.S85L|EPB49_uc022asy.1_Missense_Mutation_p.S60L	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	85					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	p.S85S(1)		central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		TCACAGCGCTCGCTGTCACCC	0.617													37	120					0	0	1	0	0	T	21926531	C	T	21926531	3	4	163	1	0	0	0	0	1	0	0	0	5159	893	31	1	268	1	EPB49	8	21926531	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		21926531	124437491	36	2806											
POLB	5423	broad.mit.edu	37	chr8	42196191	42196191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcaacgggggaatcaccGacatgctcacaggttagcac	10	13	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:42196191G>A	uc003xoz.2	+	0	219	c.49G>A	c.(49-51)Gac>Aac	p.D17N	POLB_uc011lcs.2_5'UTR	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	17					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	GGGAATCACCGACATGCTCAC	0.622								DNA polymerases (catalytic subunits)					11	128					0	0	1	0	0	A	42196191	G	A	42196191	3	1	163	1	0	0	0	0	1	0	0	0	12189	1058	37	1	51	1	POLB	8	42196191	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	20269660	42196191	104167831	37	2807											
KCNV2	169522	broad.mit.edu	37	chr9	2718867	2718867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaggtgggtcaggtgttGcgcgtcatgcgcctcatgcg	17	9	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:2718867G>A	uc003zho.2	+	0	1342	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	376						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTCAGGTGTTGCGCGTCATGC	0.667													41	63					0	0	1	0	0	A	2718867	G	A	2718867	2	1	163	1	0	0	0	0	0	0	0	1	8095	1310	46	2		2	KCNV2	9	2718867	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		2718867	138494564	38	2808											
KIAA1432	57589	broad.mit.edu	37	chr9	5757374	5757374	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatgtcacgctacattcctCaccctttcctggtggtatct	6	15	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:5757374C>T	uc003zjl.4	+	15	1995	c.1804C>T	c.(1804-1806)Cac>Tac	p.H602Y	KIAA1432_uc003zjh.3_Missense_Mutation_p.H560Y|KIAA1432_uc003zji.3_Missense_Mutation_p.H560Y|KIAA1432_uc003zjj.1_Missense_Mutation_p.H102Y	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	639						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTACATTCCTCACCCTTTCCT	0.428													27	201					0	0	1	0	0	T	5757374	C	T	5757374	3	4	163	1	0	0	0	0	1	0	0	0	8233	826	29	2	1740	2	KIAA1432	9	5757374	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	3038507	5757374	135456057	39	2809											
PTCH1	5727	broad.mit.edu	37	chr9	98239123	98239123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccacaccaacaccaagaGcgagaaatggcaaaacctac	6	14	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:98239123G>A	uc004avk.4	-	10	1708	c.1520C>T	c.(1519-1521)gCt>gTt	p.A507V	PTCH1_uc010mro.3_Missense_Mutation_p.A356V|PTCH1_uc010mrp.3_Missense_Mutation_p.A356V|PTCH1_uc010mrq.3_Missense_Mutation_p.A356V|PTCH1_uc004avl.4_Missense_Mutation_p.A356V|PTCH1_uc004avm.4_Missense_Mutation_p.A506V|PTCH1_uc010mrr.3_Missense_Mutation_p.A441V|PTCH1_uc010mrs.1_Missense_Mutation_p.A175V	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	507	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACACCAAGAGCGAGAAATGG	0.428													9	33					0	0	1	0	0	A	98239123	G	A	98239123	3	1	163	1	0	0	0	0	1	0	0	0	12730	971	34	2	2875	2	PTCH1	9	98239123	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	92481749	98239123	42974308	40	2810											
GLT6D1	360203	broad.mit.edu	37	chr9	138516117	138516117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaatctccctgtccaaaCgggatgcaagctgctgaggt	11	10	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:138516117C>T	uc010nbd.1	-	4	911	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.P219P(2)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGTCCAAACGGGATGCAAG	0.493													5	135					0	0	1	0	0	T	138516117	C	T	138516117	2	4	163	1	0	0	0	0	0	0	0	1	6468	523	19	1		1	GLT6D1	9	138516117	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	40276994	138516117	2697314	41	2811											
BICC1	80114	broad.mit.edu	37	chr10	60573609	60573609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggctcatccatgtccctttCacggtccaacagtcgtgagc	10	14	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:60573609C>T	uc001jki.1	+	17	2396	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L	BICC1_uc001jkj.1_Missense_Mutation_p.S440L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	799					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGTCCCTTTCACGGTCCAAC	0.458													40	116					0	0	1	0	0	T	60573609	C	T	60573609	3	4	163	1	0	0	0	0	1	0	0	0	1427	838	29	2	2466	2	BICC1	10	60573609	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		60573609	74961138	42	2812											
CCDC6	8030	broad.mit.edu	37	chr10	61666113	61666113	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgacgagcaggacgactGcatggcggccgagctgctgc	17	12	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:61666113G>A	uc001jks.4	-	0	302	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	24						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGGACGACTGCATGGCGGCC	0.751			T	RET	NSCLC								16	25					0	0	1	0	0	A	61666113	G	A	61666113	4	1	163	1	0	0	0	0	0	1	0	0	2830	1328	46	2	1390	2	CCDC6	10	61666113	Nonsense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1092504	61666113	73868634	43	2813											
GPR123	84435	broad.mit.edu	37	chr10	134910590	134910590	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggcctccttcgtcacctAcatcgtgcaccagaggtgag	10	15	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:134910590A>C	uc001llw.3	+	11	2276	c.2276A>C	c.(2275-2277)tAc>tCc	p.Y759S	GPR123_uc001llx.4_Missense_Mutation_p.Y39S			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTCGTCACCTACATCGTGCAC	0.632													8	88					0	0	1	0	0	C	134910590	A	C	134910590	3	2	163	1	0	0	0	0	1	0	0	0	6637	391	14	5	122	5	GPR123	10	134910590	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	73244477	134910590	624157	44	2814											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651522	1651522	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtccaaggggggctgtggttCttatggctgctcccagtcca	14	11	1	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:1651522C>T	uc001lty.3	+	0	490	c.452C>T	c.(451-453)tCt>tTt	p.S151F	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	151	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGGTTCTTATGGCTGC	0.667													11	179					0	0	1	0	0	T	1651522	C	T	1651522	3	4	163	1	0	0	0	0	1	0	0	0	8564	913	32	2	454	2	KRTAP5-5	11	1651522	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		1651522	133354994	45	2815											
ARFIP2	23647	broad.mit.edu	37	chr11	6500468	6500468	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccagaaggagtggtgctgtGagatggatggcggccagacc	18	8	0	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:6500468G>A	uc010ran.2	-	3	607	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	ARFIP2_uc001mdk.3_Missense_Mutation_p.H73Y|ARFIP2_uc010ral.2_Missense_Mutation_p.H35Y|ARFIP2_uc010ram.2_Intron|ARFIP2_uc009yfe.2_3'UTR|FXC1_uc001mdn.4_5'Flank|FXC1_uc001mdo.4_5'Flank	NM_001242854	NP_001229783	P53365	ARFP2_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 1, mRNA.	73					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	p.K105*(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGGTGCTGTGAGATGGATGG	0.532													22	113					0	0	1	0	0	A	6500468	G	A	6500468	3	1	163	1	0	0	0	0	1	0	0	0	855	1290	45	2	828	2	ARFIP2	11	6500468	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	4848946	6500468	128506048	46	2816											
C11orf74	119710	broad.mit.edu	37	chr11	36631730	36631730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttggataaattccttaAttgtcatgagcaaacatatg	7	7	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:36631730A>G	uc001mwy.1	+	1	150	c.77A>G	c.(76-78)aAt>aGt	p.N26S	C11orf74_uc001mwx.1_Non-coding_Transcript|C11orf74_uc001mwz.1_Missense_Mutation_p.N26S|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA.	26										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAATTCCTTAATTGTCATGAG	0.348													14	62					0	0	1	0	0	G	36631730	A	G	36631730	3	3	163	1	0	0	0	0	1	0	0	0	1662	101	4	3	79	3	C11orf74	11	36631730	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	30131262	36631730	98374786	47	2817											
OR8H2	390151	broad.mit.edu	37	chr11	55872901	55872901	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgctatgcagcgatctgcaGtcctctacactacacagtta	7	13	2	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:55872901G>C	uc010riy.2	+	0	383	c.383G>C	c.(382-384)aGt>aCt	p.S128T		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCGATCTGCAGTCCTCTACAC	0.478										HNSCC(53;0.14)			68	234					0	0	1	0	0	C	55872901	G	C	55872901	3	2	163	1	0	0	0	0	1	0	0	0	11238	1029	36	4	385	4	OR8H2	11	55872901	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	19241171	55872901	79133615	48	2818											
AHNAK	79026	broad.mit.edu	37	chr11	62299935	62299935	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgatatctcctttgggtaGagtcatatgaacatctggac	9	8	3	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62299935G>A	uc001ntl.3	-	4	2254	c.1954C>T	c.(1954-1956)Cta>Tta	p.L652L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	652					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGGGTAGAGTCATATGA	0.512													38	135					0	0	1	0	0	A	62299935	G	A	62299935	2	1	163	1	0	0	0	0	0	0	0	1	414	933	33	2		2	AHNAK	11	62299935	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	6427034	62299935	72706581	49	2819											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62494265	62494265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcatctggctcggccgCggcctccatggctgccgcct	14	16	1	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62494265C>T	uc001nuw.3	-	0	593	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	HNRNPUL2_uc001nuu.2_Non-coding_Transcript|TTC9C_uc001nux.3_5'Flank|TTC9C_uc001nuy.3_5'Flank	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	122	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCTCGGCCGCGGCCTCCATG	0.721													20	39					0	0	1	0	0	T	62494265	C	T	62494265	3	4	163	1	0	0	0	0	1	0	0	0	7275	768	27	1	1935	1	HNRNPUL2	11	62494265	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	194330	62494265	72512251	50	2820											
DPP3	10072	broad.mit.edu	37	chr11	66263137	66263137	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggctgatgcggaggacgtGatctacgtgaactggctcaa	16	8	2	3	rs113357584		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:66263137G>A	uc001oig.1	+	14	1676	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V	DPP3_uc001oif.1_Silent_p.V538V|DPP3_uc010rpe.1_Silent_p.V527V|BBS1_uc001oih.1_5'Flank	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	538					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CGGAGGACGTGATCTACGTGA	0.617													12	60					0	0	1	0	0	A	66263137	G	A	66263137	2	1	163	1	0	0	0	0	0	0	0	1	4728	1277	45	2		2	DPP3	11	66263137	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	3768872	66263137	68743379	51	2821											
EED	8726	broad.mit.edu	37	chr11	85956375	85956375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcaatccagacctctctgGagacgagaatgtaagtgcag	11	10	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:85956375G>A	uc001pbr.3	+	0	570	c.104G>A	c.(103-105)gGa>gAa	p.G35E	EED_uc010rtm.2_Missense_Mutation_p.G35E|EED_uc001pbp.3_Missense_Mutation_p.G35E|EED_uc001pbq.3_Missense_Mutation_p.G35E	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	35					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GACCTCTCTGGAGACGAGAAT	0.562													16	35					0	0	1	0	0	A	85956375	G	A	85956375	3	1	163	1	0	0	0	0	1	0	0	0	4922	1174	41	2	106	2	EED	11	85956375	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	19693238	85956375	49050141	52	2822											
KIAA1467	57613	broad.mit.edu	37	chr12	13224331	13224331	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcatctcccaattccGtgagtgagcctgggagggtc	13	12	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:13224331G>A	uc001rbi.3	+	10	1547	c.1524_splice	c.e10+1	p.S508_splice	KIAA1467_uc021qvn.1_Splice_Site	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	508						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCCAATTCCGTGAGTGAGCC	0.517													22	57					0	0	1	0	0	A	13224331	G	A	13224331	5	1	163	1	0	0	0	0	0	0	1	0	8235	1159	40	1	1563	1	KIAA1467	12	13224331	Splice_Site	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		13224331	120627564	53	2823											
KRT18	3875	broad.mit.edu	37	chr12	53346038	53346038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggacagcgccaggcccagGagtatgaggccctgctgaac	15	12	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:53346038G>A	uc001sbe.3	+	6	1153	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	KRT18_uc009zmn.2_Missense_Mutation_p.E362K|KRT18_uc001sbg.3_Missense_Mutation_p.E362K|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	362	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCAGGCCCAGGAGTATGAGGC	0.627													4	12					0	0	1	0	0	A	53346038	G	A	53346038	3	1	163	1	0	0	0	0	1	0	0	0	8455	1175	41	2	1106	2	KRT18	12	53346038	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	40121707	53346038	80505857	54	2824											
ERBB3	2065	broad.mit.edu	37	chr12	56490857	56490857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccattggcagcctggaccAtgcccacattgtaaggctgc	12	13	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:56490857A>G	uc001sjh.3	+	19	2579	c.2303A>G	c.(2302-2304)cAt>cGt	p.H768R	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Missense_Mutation_p.H125R|ERBB3_uc010sqc.2_Missense_Mutation_p.H709R|ERBB3_uc009zok.3_Intron|ERBB3_uc001sjk.3_Missense_Mutation_p.H9R	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	768	Protein kinase.				Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGCCTGGACCATGCCCACATT	0.502													16	98					0	0	1	0	0	G	56490857	A	G	56490857	3	3	163	1	0	0	0	0	1	0	0	0	5208	217	8	3	2512	3	ERBB3	12	56490857	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	3144819	56490857	77361038	55	2825											
DUSP6	1848	broad.mit.edu	37	chr12	89745586	89745586	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccggtcctcgccgcgcgtGaagagcgcgcgcaccggcag	15	17	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:89745586G>A	uc001tay.3	-	0	711	c.231C>T	c.(229-231)ttC>ttT	p.F77F	DUSP6_uc001taz.3_Silent_p.F77F	NM_001946	NP_001937	Q16828	DUS6_HUMAN	Homo sapiens dual specificity phosphatase 6 (DUSP6), transcript variant 1, mRNA.	77	Rhodanese.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGCCGCGCGTGAAGAGCGCGC	0.662													5	22					0	0	1	0	0	A	89745586	G	A	89745586	2	1	163	1	0	0	0	0	0	0	0	1	4829	1281	45	2		2	DUSP6	12	89745586	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	33254729	89745586	44106309	56	2826											
ATP12A	479	broad.mit.edu	37	chr13	25262595	25262595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcctcctgtgggtgggcGcctttctctgttggattgca	12	11	1	0	rs149324896		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:25262595G>A	uc010aaa.3	+	3	700	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ATP12A_uc001upp.3_Missense_Mutation_p.A123T	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	123					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTGGGTGGGCGCCTTTCTCTG	0.572													90	365					0	0	1	0	0	A	25262595	G	A	25262595	3	1	163	1	0	0	0	0	1	0	0	0	1122	1087	38	1	381	1	ATP12A	13	25262595	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		25262595	89907283	57	2827											
THSD1	55901	broad.mit.edu	37	chr13	52971918	52971918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttgtccacaggaaacGggcacagtggttgactggta	15	8	0	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:52971918G>A	uc001vgo.3	-	2	1015	c.470C>T	c.(469-471)cCg>cTg	p.P157L	THSD1_uc001vgp.3_Missense_Mutation_p.P157L|THSD1_uc010tgz.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	157						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CACAGGAAACGGGCACAGTGG	0.498													8	85					0	0	1	0	0	A	52971918	G	A	52971918	3	1	163	1	0	0	0	0	1	0	0	0	15874	1116	39	1	2100	1	THSD1	13	52971918	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	27709323	52971918	62197960	58	2828											
DIS3	22894	broad.mit.edu	37	chr13	73349381	73349381	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttcttctttctccacatCttcttcattttgaccttcat	1	14	8	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:73349381C>T	uc001vix.4	-	5	1329	c.955G>A	c.(955-957)Gat>Aat	p.D319N	DIS3_uc001viy.4_Missense_Mutation_p.D289N|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	319					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTCTCCACATCTTCTTCATTT	0.393										Multiple Myeloma(4;0.011)			22	99					0	0	1	0	0	T	73349381	C	T	73349381	3	4	163	1	0	0	0	0	1	0	0	0	4535	913	32	2	1985	2	DIS3	13	73349381	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	20377463	73349381	41820497	59	2829											
FAM155A	728215	broad.mit.edu	37	chr13	107823105	107823105	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgtcacagcattctggttCatcattggttagaaaggttt	10	7	4	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:107823105C>T	uc001vql.3	-	2	1633	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	373						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CATTCTGGTTCATCATTGGTT	0.443													5	66					0	0	1	0	0	T	107823105	C	T	107823105	3	4	163	1	0	0	0	0	1	0	0	0	5465	835	29	2	263	2	FAM155A	13	107823105	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	34473724	107823105	7346773	60	2830											
OR4K17	390436	broad.mit.edu	37	chr14	20586459	20586459	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccttcggcaaccactctgtAgataagttccttgctgtgtt	8	12	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:20586459A>T	uc001vwo.1	+	0	894	c.894A>T	c.(892-894)gtA>gtT	p.V298V		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V298L(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACCACTCTGTAGATAAGTTCC	0.398													13	44					0	0	1	0	0	T	20586459	A	T	20586459	2	4	163	1	0	0	0	0	0	0	0	1	11071	407	15	5		5	OR4K17	14	20586459	Silent	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08		20586459	86763081	61	2831											
LRP10	26020	broad.mit.edu	37	chr14	23346174	23346174	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtgctgggcaacctgcgttCtctgctacagatcttacgcc	10	13	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:23346174C>T	uc001whd.3	+	6	2133	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	LRP10_uc001whe.3_Missense_Mutation_p.S403F	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	527					endocytosis	coated pit|integral to membrane		p.R526H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AACCTGCGTTCTCTGCTACAG	0.622													22	62					0	0	1	0	0	T	23346174	C	T	23346174	3	4	163	1	0	0	0	0	1	0	0	0	8952	913	32	2	1606	2	LRP10	14	23346174	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2759715	23346174	84003366	62	2832											
NFATC4	4776	broad.mit.edu	37	chr14	24839163	24839163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttcttctccgatgcctctGacgaggcagccctgtatgca	10	14	3	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:24839163G>A	uc010tol.2	+	2	864	c.748G>A	c.(748-750)Gac>Aac	p.D250N	NFATC4_uc010alr.3_Missense_Mutation_p.D250N|NFATC4_uc010tok.2_Missense_Mutation_p.D250N|NFATC4_uc010als.2_Missense_Mutation_p.D200N|NFATC4_uc010too.2_Missense_Mutation_p.D200N|NFATC4_uc010tom.2_Missense_Mutation_p.D200N|NFATC4_uc010ton.2_Missense_Mutation_p.D200N|NFATC4_uc010toq.2_Missense_Mutation_p.D219N|NFATC4_uc010alt.3_Missense_Mutation_p.D219N|NFATC4_uc010top.2_Missense_Mutation_p.D219N|NFATC4_uc010alu.3_Intron|NFATC4_uc001wpc.3_Missense_Mutation_p.D187N|NFATC4_uc010tor.2_Missense_Mutation_p.D187N|NFATC4_uc010tos.2_Missense_Mutation_p.D117N|NFATC4_uc010tot.2_Missense_Mutation_p.D175N|NFATC4_uc010tou.2_Missense_Mutation_p.D117N|NFATC4_uc010tov.2_Missense_Mutation_p.D175N|NFATC4_uc010tow.2_Missense_Mutation_p.D117N|NFATC4_uc010alv.3_Missense_Mutation_p.D175N|NFATC4_uc010tox.2_Missense_Mutation_p.D117N|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_001198966	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA.	187	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGATGCCTCTGACGAGGCAGC	0.682													4	56					0	0	1	0	0	A	24839163	G	A	24839163	3	1	163	1	0	0	0	0	1	0	0	0	10365	1290	45	2	758	2	NFATC4	14	24839163	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1492989	24839163	82510377	63	2833											
TOMM20L	387990	broad.mit.edu	37	chr14	58863033	58863033	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaaagaagagcagagcctCaaaaggctgaggagcagggc	15	8	1	5			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:58863033C>T	uc001xdr.1	+	1	186	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	TOMM20L_uc010trq.1_Non-coding_Transcript	NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast)-like (TOMM20L), nuclear gene encoding mitochondrial protein, mRNA.	52					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						AGCAGAGCCTCAAAAGGCTGA	0.657													8	35					0	0	1	0	0	T	58863033	C	T	58863033	4	4	163	1	0	0	0	0	0	1	0	0	16352	827	29	2	160	2	TOMM20L	14	58863033	Nonsense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	34023870	58863033	48486507	64	2834											
GLCE	26035	broad.mit.edu	37	chr15	69561469	69561469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgctgggactatcatacCacccacatcaatcagttgca	7	14	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:69561469C>T	uc002ary.1	+	4	1968	c.1740C>T	c.(1738-1740)acC>acT	p.T580T		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	580					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	p.H579Y(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ACTATCATACCACCCACATCA	0.502													72	222					0	0	1	0	0	T	69561469	C	T	69561469	2	4	163	1	0	0	0	0	0	0	0	1	6432	581	21	2		2	GLCE	15	69561469	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		69561469	32969923	65	2835											
ZNF710	374655	broad.mit.edu	37	chr15	90611785	90611785	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgaatgcggcatggagttCagccagattcaccacctcaa	9	12	3	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:90611785C>T	uc002bov.2	+	1	1539	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCATGGAGTTCAGCCAGATTC	0.577													15	167					0	0	1	0	0	T	90611785	C	T	90611785	2	4	163	1	0	0	0	0	0	0	0	1	18112	825	29	2		2	ZNF710	15	90611785	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	21050316	90611785	11919607	66	2836											
CLDN6	9074	broad.mit.edu	37	chr16	3065427	3065427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggcagatgttgagtagCgggccatgtaatggctgggg	19	6	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:3065427C>T	uc002csu.4	-	1	656	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CLDN6_uc021tbb.1_Missense_Mutation_p.R199H	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	199					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTTGAGTAGCGGGCCATGTA	0.652													28	88					0	0	1	0	0	T	3065427	C	T	3065427	3	4	163	1	0	0	0	0	1	0	0	0	3489	768	27	1	70	1	CLDN6	16	3065427	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		3065427	87289326	67	2837											
ZNF646	9726	broad.mit.edu	37	chr16	31089468	31089468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaaatagcagaacagAgaccacaatgtcacctccta	7	10	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:31089468A>C	uc002eap.3	+	1	2112	c.1823A>C	c.(1822-1824)gAg>gCg	p.E608A	ZNF646_uc021tgu.1_Missense_Mutation_p.E608A	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCAGAACAGAGACCACAATG	0.537													13	84					0	0	1	0	0	C	31089468	A	C	31089468	3	2	163	1	0	0	0	0	1	0	0	0	18059	304	11	5	1825	5	ZNF646	16	31089468	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	28024041	31089468	59265285	68	2838											
CHD9	80205	broad.mit.edu	37	chr16	53262947	53262947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttttgaaagataaaAggatccagcagaaaatcaaa	8	6	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:53262947A>G	uc002ehb.3	+	6	2385	c.2221A>G	c.(2221-2223)Agg>Ggg	p.R741G	CHD9_uc002egy.3_Missense_Mutation_p.R741G|CHD9_uc002ehc.3_Missense_Mutation_p.R741G|CHD9_uc002ehd.2_Missense_Mutation_p.R267G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	741	Chromo 1.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAAGATAAAAGGATCCAGCA	0.318													2	11					0	0	1	0	0	G	53262947	A	G	53262947	3	3	163	1	0	0	0	0	1	0	0	0	3332	63	3	3	2247	3	CHD9	16	53262947	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	22173479	53262947	37091806	69	2839											
ZZEF1	23140	broad.mit.edu	37	chr17	3937546	3937546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacctgaaacatgagtGgaaggacgtgctccaggtct	12	9	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3937546G>A	uc002fxe.3	-	39	6411	c.6347C>T	c.(6346-6348)cCa>cTa	p.P2116L	ZZEF1_uc002fxh.3_Missense_Mutation_p.P430L|ZZEF1_uc002fxi.3_Missense_Mutation_p.P351L|ZZEF1_uc002fxj.1_Missense_Mutation_p.P729L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2116							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAACATGAGTGGAAGGACGTG	0.493													3	80					0	0	1	0	0	A	3937546	G	A	3937546	3	1	163	1	0	0	0	0	1	0	0	0	18252	1348	47	2	2602	2	ZZEF1	17	3937546	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		3937546	77257664	70	2840											
ZZEF1	23140	broad.mit.edu	37	chr17	3984759	3984759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcgttcttctcaggtaaaaGaagaaggccgcctggatcct	11	10	2	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3984759G>A	uc002fxe.3	-	17	2804	c.2740C>T	c.(2740-2742)Ctt>Ttt	p.L914F	ZZEF1_uc002fxk.1_Missense_Mutation_p.L915F	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	914							calcium ion binding|zinc ion binding	p.L914delL(2)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAGGTAAAAGAAGAAGGCCG	0.448													35	79					0	0	1	0	0	A	3984759	G	A	3984759	3	1	163	1	0	0	0	0	1	0	0	0	18252	942	33	2	6297	2	ZZEF1	17	3984759	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	47213	3984759	77210451	71	2841											
GLP2R	9340	broad.mit.edu	37	chr17	9760756	9760756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaaactccactgcacgCgcaactacatccacatgaac	5	15	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:9760756C>T	uc002gmd.1	+	5	628	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	210					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.R210C(4)|p.R210L(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CCACTGCACGCGCAACTACAT	0.493													7	66					0	0	1	0	0	T	9760756	C	T	9760756	3	4	163	1	0	0	0	0	1	0	0	0	6453	768	27	1	650	1	GLP2R	17	9760756	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	5775997	9760756	71434454	72	2842											
YES1	7525	broad.mit.edu	37	chr18	748002	748002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtagcgattgatcttgcttCccaccaatctccttccctgc	6	15	2	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:748002C>T	uc002kky.3	-	3	609	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	YES1_uc002kkz.3_Missense_Mutation_p.E130K	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	130	SH3.				T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GATCTTGCTTCCCACCAATCT	0.433													31	111					0	0	1	0	0	T	748002	C	T	748002	3	4	163	1	0	0	0	0	1	0	0	0	17471	864	30	2	1279	2	YES1	18	748002	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		748002	77329246	73	2843											
NOL4	8715	broad.mit.edu	37	chr18	31463212	31463212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgataaatactcaccactGctggaagcatcattcagatt	6	9	3	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:31463212G>A	uc010dmi.3	-	9	2017	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	NOL4_uc010xbs.2_Silent_p.S288S|NOL4_uc002kxr.4_Silent_p.S345S|NOL4_uc010xbt.2_Silent_p.S499S|NOL4_uc010dmh.3_Silent_p.S435S|NOL4_uc010xbu.2_Silent_p.S509S|NOL4_uc002kxt.4_Silent_p.S471S	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	573						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ACTCACCACTGCTGGAAGCAT	0.383													33	159					0	0	1	0	0	A	31463212	G	A	31463212	2	1	163	1	0	0	0	0	0	0	0	1	10524	1310	46	2		2	NOL4	18	31463212	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	30715210	31463212	46614036	74	2844											
DTNA	1837	broad.mit.edu	37	chr18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagagcatgaacaagcttctCagcccacgccagagaaggca	10	12	1	3			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:32438301C>T	uc010dmn.1	+	14	1505	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	DTNA_uc010xbx.2_Nonsense_Mutation_p.Q252*|DTNA_uc002kxv.4_Nonsense_Mutation_p.Q445*|DTNA_uc002kxw.2_Nonsense_Mutation_p.Q445*|DTNA_uc002kxz.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kxy.2_Nonsense_Mutation_p.Q442*|DTNA_uc010dmj.3_Nonsense_Mutation_p.Q442*|DTNA_uc002kyb.4_Nonsense_Mutation_p.Q499*|DTNA_uc010dml.3_Nonsense_Mutation_p.Q442*|DTNA_uc010dmm.3_Nonsense_Mutation_p.Q502*|DTNA_uc010xby.1_Nonsense_Mutation_p.Q192*|DTNA_uc021uiq.1_Nonsense_Mutation_p.Q279*|DTNA_uc021uir.1_Nonsense_Mutation_p.Q222*|DTNA_uc002kyd.4_Nonsense_Mutation_p.Q124*|DTNA_uc010dmo.3_Nonsense_Mutation_p.Q124*|DTNA_uc002kye.3_Nonsense_Mutation_p.Q150*|DTNA_uc010xca.2_Nonsense_Mutation_p.Q154*|DTNA_uc010xbz.2_Nonsense_Mutation_p.Q211*	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	502					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512													15	80					0	0	1	0	0	T	32438301	C	T	32438301	4	4	163	1	0	0	0	0	0	1	0	0	4788	827	29	2	1597	2	DTNA	18	32438301	Nonsense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	975089	32438301	45638947	75	2845											
RPRD1A	55197	broad.mit.edu	37	chr18	33647312	33647312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtctgcacgctctgctgcGagttgctcaactccgacagc	11	14	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:33647312G>A	uc002kzg.3	-	0	62	c.56C>T	c.(55-57)tCg>tTg	p.S19L	RPRD1A_uc002kze.1_5'UTR|RPRD1A_uc010dmw.3_5'UTR|RPRD1A_uc010dmx.3_Missense_Mutation_p.S19L	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.	19	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTCTGCTGCGAGTTGCTCAA	0.637													4	9					0	0	1	0	0	A	33647312	G	A	33647312	3	1	163	1	0	0	0	0	1	0	0	0	13615	1059	37	1	910	1	RPRD1A	18	33647312	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1209011	33647312	44429936	76	2846											
MBD1	4152	broad.mit.edu	37	chr18	47803212	47803212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacactcacccaggagcagGgaatgaagctggggctgtgt	14	10	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:47803212G>A	uc010xdi.2	-	3	551	c.460C>T	c.(460-462)Cct>Tct	p.P154S	MBD1_uc002lef.3_5'UTR|MBD1_uc002leg.3_Missense_Mutation_p.P128S|MBD1_uc010dow.2_Missense_Mutation_p.P128S|MBD1_uc010xdj.2_Missense_Mutation_p.P128S|MBD1_uc002lel.4_Missense_Mutation_p.P128S|MBD1_uc002len.3_Missense_Mutation_p.P128S|MBD1_uc002leh.4_Missense_Mutation_p.P128S|MBD1_uc002lei.4_Missense_Mutation_p.P128S|MBD1_uc002lej.4_Missense_Mutation_p.P128S|MBD1_uc002lek.4_Missense_Mutation_p.P128S|MBD1_uc002lem.4_Missense_Mutation_p.P128S|MBD1_uc021ukd.1_Missense_Mutation_p.P128S|MBD1_uc021uke.1_Missense_Mutation_p.P128S|MBD1_uc010xdk.2_Missense_Mutation_p.P128S|MBD1_uc010dox.1_Missense_Mutation_p.P128S|MBD1_uc002leo.2_Missense_Mutation_p.P128S	NM_001204137	NP_001191066	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 7, mRNA.	128					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGAGCAGGGAATGAAGCT	0.602													70	192					0	0	1	0	0	A	47803212	G	A	47803212	3	1	163	1	0	0	0	0	1	0	0	0	9342	1232	43	2	1681	2	MBD1	18	47803212	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	14155900	47803212	30274036	77	2847											
ZNF556	80032	broad.mit.edu	37	chr19	2877814	2877814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcacgccggagggagaccGtatgagtgcaagcagtgtgg	17	8	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:2877814G>A	uc002lwp.1	+	3	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_uc002lwq.3_Silent_p.P285P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGACCGTATGAGTGCA	0.517													13	52					0	0	1	0	0	A	2877814	G	A	2877814	2	1	163	1	0	0	0	0	0	0	0	1	17984	1132	40	1		1	ZNF556	19	2877814	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		2877814	56251169	78	2848											
LONP1	9361	broad.mit.edu	37	chr19	5719905	5719905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggaggcgtcctcgccccccGagaatgcgcctccgccgcgg	14	19	0	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:5719905G>A	uc002mcx.3	-	0	272	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CATSPERD_uc010duj.1_5'Flank|CATSPERD_uc002mda.3_5'Flank|LONP1_uc002mcy.3_Intron|LONP1_uc010duh.3_5'UTR|LONP1_uc010dui.3_Missense_Mutation_p.S80L|LONP1_uc002mcz.3_Intron	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	80					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGCCCCCCGAGAATGCGCC	0.761													5	10					0	0	1	0	0	A	5719905	G	A	5719905	3	1	163	1	0	0	0	0	1	0	0	0	8892	1059	37	1	2712	1	LONP1	19	5719905	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	2842091	5719905	53409078	79	2849											
ARHGEF18	23370	broad.mit.edu	37	chr19	7533921	7533921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccagaggcaggcggccGtgcagcagcagatccccacc	13	15	0	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:7533921G>A	uc002mgi.3	+	16	3380	c.3127G>A	c.(3127-3129)Gtg>Atg	p.V1043M	ARHGEF18_uc010xjm.1_Missense_Mutation_p.V885M|ARHGEF18_uc002mgh.3_Missense_Mutation_p.V885M|ARHGEF18_uc002mgj.1_Missense_Mutation_p.V680M|ARHGEF18_uc021unt.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	1043					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCAGGCGGCCGTGCAGCAGCA	0.687													3	10					0	0	1	0	0	A	7533921	G	A	7533921	3	1	163	1	0	0	0	0	1	0	0	0	901	1145	40	1	3193	1	ARHGEF18	19	7533921	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1814016	7533921	51595062	80	2850											
ICAM1	3383	broad.mit.edu	37	chr19	10381886	10381886	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcactcctggtcctgctCggggctctgttcccaggtga	12	16	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10381886C>T	uc002mnq.2	+	0	370	c.51C>T	c.(49-51)ctC>ctT	p.L17L	ICAM1_uc010xle.1_Silent_p.L17L	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	17				L -> F (in Ref. 11; AAQ14902).	T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGGTCCTGCTCGGGGCTCTGT	0.677													5	19					0	0	1	0	0	T	10381886	C	T	10381886	2	4	163	1	0	0	0	0	0	0	0	1	7479	871	31	1		1	ICAM1	19	10381886	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2847965	10381886	48747097	81	2851											
ICAM1	3383	broad.mit.edu	37	chr19	10395810	10395810	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccccccggtatgagattgtCatcatcactgtggtagcagc	11	12	3	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10395810C>T	uc002mnq.2	+	6	1765	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	ICAM1_uc010xle.1_Silent_p.V260V|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	482					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	ATGAGATTGTCATCATCACTG	0.577													23	76					0	0	1	0	0	T	10395810	C	T	10395810	2	4	163	1	0	0	0	0	0	0	0	1	7479	813	29	2		2	ICAM1	19	10395810	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	13924	10395810	48733173	82	2852											
FARSA	2193	broad.mit.edu	37	chr19	13041137	13041137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggagccgccgctgcacctCatcctccatgctgtccacct	8	19	1	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:13041137C>T	uc002mvs.2	-	3	451	c.403G>A	c.(403-405)Gag>Aag	p.E135K	FARSA_uc010xmv.1_Missense_Mutation_p.E135K	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	135					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CGCTGCACCTCATCCTCCATG	0.652													25	95					0	0	1	0	0	T	13041137	C	T	13041137	3	4	163	1	0	0	0	0	1	0	0	0	5679	835	29	2	1163	2	FARSA	19	13041137	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2645327	13041137	46087846	83	2853											
EMR3	84658	broad.mit.edu	37	chr19	14736376	14736376	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactcagattttgattttacGatctctctaaaccacttttg	5	9	3	2	rs147270469	by1000genomes	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:14736376G>A	uc002mzi.4	-	14	1996	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	EMR3_uc010dzp.3_Silent_p.I564I|EMR3_uc010xnv.2_Silent_p.I490I	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	616					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTGATTTTACGATCTCTCTAA	0.403													18	172					0	0	1	0	0	A	14736376	G	A	14736376	2	1	163	1	0	0	0	0	0	0	0	1	5106	1048	37	1		1	EMR3	19	14736376	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1695239	14736376	44392607	84	2854											
TMEM50B	757	broad.mit.edu	37	chr21	34837657	34837657	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtatctttacctgttcttCctaaacagccgctttcatag	5	11	3	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:34837657C>T	uc002yrs.2	-	3		c.485G>A			TMEM50B_uc010gmb.2_Non-coding_Transcript	NM_006134		P56557	TM50B_HUMAN	Homo sapiens transmembrane protein 50B (TMEM50B), transcript variant 1, mRNA.							endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						ACCTGTTCTTCCTAAACAGCC	0.388													5	82					0	0	1	0	0	T	34837657	C	T	34837657	1	4	163	0	1	0	0	0	0	0	0	0	16173	855	30	2		2	TMEM50B	21	34837657	RNA	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		34837657	13292238	85	2855											
CBR3	874	broad.mit.edu	37	chr21	37507778	37507778	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgcggccgtcgccttcaaGagtaggtgcagggcttgggt	16	10	1	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:37507778G>A	uc002yve.3	+	1	517	c.289_splice	c.e1+1	p.S97_splice	CBR3-AS1_uc002yvc.2_Intron|CBR3-AS1_uc002yvd.2_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	Homo sapiens carbonyl reductase 3 (CBR3), mRNA.	97						cytosol|nucleus	NADPH binding|carbonyl reductase (NADPH) activity			kidney(1)|large_intestine(1)|lung(1)	3						TCGCCTTCAAGAGTAGGTGCA	0.672													8	28					0	0	1	0	0	A	37507778	G	A	37507778	5	1	163	1	0	0	0	0	0	0	1	0	2709	956	33	2	290	2	CBR3	21	37507778	Splice_Site	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	2670121	37507778	10622117	86	2856											
LOC391322	391322	broad.mit.edu	37	chr22	24373715	24373715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggcgtagtgggcaccgccGaggacaaccgcagccacagt	14	14	0	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr22:24373715G>A	uc011ajk.1	+	1	235	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_001144931	NP_001138403			Homo sapiens D-dopachrome tautomerase-like (LOC391322), mRNA.																		GGGCACCGCCGAGGACAACCG	0.662													12	21					0	0	1	0	0	A	24373715	G	A	24373715	3	1	163	1	0	0	0	0	1	0	0	0	8875	1059	37	1	220	1	LOC391322	22	24373715	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		24373715	26930851	87	2857											
FAM116B	414918	broad.mit.edu	37	chr22	50752658	50752658	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcttggtgtccagggtcttCaaccttgaaggctttttcag	12	9	3	1			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr22:50752658C>T	uc011arv.1	-	12	1188	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	372										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGGTCTTCAACCTTGAAG	0.642													6	27					0	0	1	0	0	T	50752658	C	T	50752658	2	4	163	1	0	0	0	0	0	0	0	1	5408	825	29	2		2	FAM116B	22	50752658	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	26378943	50752658	551908	88	2858											
ARSH	347527	broad.mit.edu	37	chrX	2933405	2933405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagtagcttccctcatGctgaaggaggcacttgcttt	11	9	1	2			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:2933405G>A	uc011mhj.2	+	3	735	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	245						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTCCCTCATGCTGAAGGAGG	0.398													13	67					0	0	1	0	0	A	2933405	G	A	2933405	3	1	163	1	0	0	0	0	1	0	0	0	993	1319	46	2	749	2	ARSH	23	2933405	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		2933405	152337155	89	2859											
ENOX2	10495	broad.mit.edu	37	chrX	129799694	129799694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgccttctgcttggaggCggaatggtacacagccacta	11	12	1	0			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:129799694C>T	uc004evw.3	-	9	1442	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	ENOX2_uc004evx.3_Missense_Mutation_p.A313T|ENOX2_uc004evy.3_Missense_Mutation_p.A313T|ENOX2_uc004evv.3_Missense_Mutation_p.A169T	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	342					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TGCTTGGAGGCGGAATGGTAC	0.488													4	16					0	0	1	0	0	T	129799694	C	T	129799694	3	4	163	1	0	0	0	0	1	0	0	0	5127	768	27	1	836	1	ENOX2	23	129799694	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	126866289	129799694	25470866	90	2860											
PRDM16	63976	broad.mit.edu	37	chr1	3102815	3102815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccaccgtcccccttccCcaccagcgaggacttcaccc	9	21	1	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:3102815C>T	uc001akf.3	+	1	246	c.164C>T	c.(163-165)cCc>cTc	p.P55L	PRDM16_uc001ake.3_Missense_Mutation_p.P55L|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.P55L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	55					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCCCCCTTCCCCACCAGCGAG	0.662			T	EVI1	"MDS, AML"								24	63					0	0	1	0	0	T	3102815	C	T	3102815	3	4	164	1	0	0	0	0	1	0	0	0	12457	623	22	2	170	2	PRDM16	1	3102815	Missense_Mutation	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		3102815	246147806	1	2861											
FLG2	388698	broad.mit.edu	37	chr1	152325310	152325310	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactggactcactgtggctaGatctctgtcttccagttgtc	9	12	3	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:152325310G>T	uc001ezw.4	-	2	5025	c.4952C>A	c.(4951-4953)tCt>tAt	p.S1651Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1651							calcium ion binding|structural molecule activity	p.S1651Y(2)|p.R1650I(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTGGCTAGATCTCTGTCT	0.512													111	298					0	0	1	0	0	T	152325310	G	T	152325310	3	4	164	1	0	0	0	0	1	0	0	0	5923	942	33	4	2227	4	FLG2	1	152325310	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08	149222495	152325310	96925311	2	2862											
RGS18	64407	broad.mit.edu	37	chr1	192150498	192150498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattttggatagcctgtgaAgatttcaagaaaagcaaggg	12	4	1	3			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:192150498A>G	uc001gsg.3	+	3	536	c.360A>G	c.(358-360)gaA>gaG	p.E120E		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	120	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGCCTGTGAAGATTTCAAGA	0.313													3	35					0	0	1	0	0	G	192150498	A	G	192150498	2	3	164	1	0	0	0	0	0	0	0	1	13300	69	3	3		3	RGS18	1	192150498	Silent	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08	39825188	192150498	57100123	3	2863											
TTN	7273	broad.mit.edu	37	chr2	179436988	179436988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgacatccatcaaaGttatttttcctggaggaaga	8	7	2	2			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr2:179436988G>A	uc021vsy.1	-	274	66392	c.66167C>T	c.(66166-66168)aCt>aTt	p.T22056I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15751I|TTN_uc021vta.1_Missense_Mutation_p.T15684I|TTN_uc021vtb.1_Missense_Mutation_p.T15559I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22983	Ig-like 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCATCAAAGTTATTTTTCC	0.468													9	30					0	0	1	0	0	A	179436988	G	A	179436988	3	1	164	1	0	0	0	0	1	0	0	0	16732	1029	36	2	34256	2	TTN	2	179436988	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		179436988	63762385	4	2864											
DGKQ	1609	broad.mit.edu	37	chr4	959854	959854	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgcgtctggctcacctGccgcacagacatctgcaggg	12	15	3	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr4:959854G>A	uc003gbw.3	-	12	1515	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	DGKQ_uc010ibn.3_Nonsense_Mutation_p.Q481*	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	481	Ras-associating.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGCTCACCTGCCGCACAGAC	0.662													5	4					0	0	1	0	0	A	959854	G	A	959854	4	1	164	1	0	0	0	0	0	1	0	0	4473	1328	46	2	1431	2	DGKQ	4	959854	Nonsense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		959854	190194422	5	2865											
UGT2A1	10941	broad.mit.edu	37	chr4	70464983	70464983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaggtaaaggtttggcaGgtttgcagtgcaatcctcca	11	9	0	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr4:70464983G>A	uc011caq.2	-	3	1591	c.1475C>T	c.(1474-1476)cCt>cTt	p.P492L	UGT2A1_uc010ihu.3_Missense_Mutation_p.P326L|UGT2A1_uc003hem.4_Missense_Mutation_p.P282L|UGT2A1_uc010ihs.3_Missense_Mutation_p.P291L|UGT2A1_uc021xox.1_Missense_Mutation_p.P291L|UGT2A1_uc010iht.3_Missense_Mutation_p.P282L	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	282					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGGTTTGGCAGGTTTGCAGTG	0.348													5	39					0	0	1	0	0	A	70464983	G	A	70464983	3	1	164	1	0	0	0	0	1	0	0	0	16950	1000	35	2	758	2	UGT2A1	4	70464983	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08	69505129	70464983	120689293	6	2866											
CHCHD2	51142	broad.mit.edu	37	chr7	56172116	56172116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgggggtgccgctgctgGtggctgagcgactggtgctg	20	8	0	2			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr7:56172116G>T	uc003tsa.3	-	1	184	c.103C>A	c.(103-105)Cca>Aca	p.P35T	PSPH_uc003trj.3_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.	35						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCGCTGCTGGTGGCTGAGCG	0.597													4	10					0	0	1	0	0	T	56172116	G	T	56172116	3	4	164	1	0	0	0	0	1	0	0	0	3316	1261	44	4	364	4	CHCHD2	7	56172116	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		56172116	102966547	7	2867											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	47					0	0	1	0	0	T	140453136	A	T	140453136	3	4	164	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08	84281020	140453136	18685527	8	2868											
FGF20	26281	broad.mit.edu	37	chr8	16850687	16850687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttggacctggcgccaTctcttggagttccgtctttg	11	13	3	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr8:16850687T>C	uc003wxc.1	-	2	663	c.530A>G	c.(529-531)gAt>gGt	p.D177G	FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	177					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCTGGCGCCATCTCTTGGAGT	0.428													39	91					0	0	1	0	0	C	16850687	T	C	16850687	3	2	164	1	0	0	0	0	1	0	0	0	5849	1435	50	3	109	3	FGF20	8	16850687	Missense_Mutation	SNP	T	TCGA-EL-A3CU-01A-11D-A19J-08		16850687	129513335	9	2869											
ZC3H3	23144	broad.mit.edu	37	chr8	144548018	144548018	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaggagcacaccggcaTctgcagggagggccggcagt	17	10	1	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr8:144548018T>A	uc003yyd.2	-	9	2205	c.2176_splice	c.e9-1	p.M726_splice		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	726					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CACACCGGCATCTGCAGGGAG	0.652													3	17					0	0	1	0	0	A	144548018	T	A	144548018	5	1	164	1	0	0	0	0	0	0	1	0	17566	1449	50	5	686	5	ZC3H3	8	144548018	Splice_Site	SNP	T	TCGA-EL-A3CU-01A-11D-A19J-08	127697331	144548018	1816004	10	2870											
PPRC1	23082	broad.mit.edu	37	chr10	103908243	103908243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgaagccgctcacgatcCccatccccccgccggagaag	9	19	2	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr10:103908243C>T	uc001kum.3	+	9	4554	c.4515C>T	c.(4513-4515)tcC>tcT	p.S1505S	PPRC1_uc001kun.3_Silent_p.S1385S|PPRC1_uc010qqj.2_Silent_p.S1241S|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1505	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTCACGATCCCCATCCCCCC	0.562													11	90					0	0	1	0	0	T	103908243	C	T	103908243	2	4	164	1	0	0	0	0	0	0	0	1	12410	610	22	2		2	PPRC1	10	103908243	Silent	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		103908243	31626504	11	2871											
C10orf137	26098	broad.mit.edu	37	chr10	127408456	127408456	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggctcagcctcctgtcccAgggagaatccgaggaatctt	12	12	2	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr10:127408456A>T	uc001liq.1	+	0	373	c.80A>T	c.(79-81)cAg>cTg	p.Q27L	FLJ37035_uc001lim.2_5'Flank|C10orf137_uc001lin.3_Missense_Mutation_p.Q27L|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.Q27L	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCTGTCCCAGGGAGAATCC	0.711													12	20					0	0	1	0	0	T	127408456	A	T	127408456	3	4	164	1	0	0	0	0	1	0	0	0	1594	188	7	5	82	5	C10orf137	10	127408456	Missense_Mutation	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08	23500213	127408456	8126291	12	2872											
ALG10B	144245	broad.mit.edu	37	chr12	38714267	38714267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagacttccacctattaaagGaccatttgcagaattcagaa	6	10	1	3			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr12:38714267G>T	uc001rln.4	+	2	813	c.674G>T	c.(673-675)gGa>gTa	p.G225V		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	225					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.G225V(2)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCTATTAAAGGACCATTTGCA	0.393													8	138					0	0	1	0	0	T	38714267	G	T	38714267	3	4	164	1	0	0	0	0	1	0	0	0	512	1174	41	4	684	4	ALG10B	12	38714267	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		38714267	95137628	13	2873											
CYB5D1	124637	broad.mit.edu	37	chr17	7761468	7761468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccatgccgcgccggggcCtggtggctgggccagacttg	18	13	0	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr17:7761468C>T	uc002gjb.4	+	0	405	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	LSMD1_uc002giz.3_5'Flank|LSMD1_uc002gja.3_5'Flank|CYB5D1_uc021tpi.1_5'Flank	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	Homo sapiens cytochrome b5 domain containing 1 (CYB5D1), mRNA.	6							heme binding			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				GCGCCGGGGCCTGGTGGCTGG	0.587													25	63					0	0	1	0	0	T	7761468	C	T	7761468	2	4	164	1	0	0	0	0	0	0	0	1	4124	680	24	2		2	CYB5D1	17	7761468	Silent	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		7761468	73433742	14	2874											
RRBP1	6238	broad.mit.edu	37	chr20	17601284	17601285	+	Frame_Shift_Ins	INS	-	-	A													acacgagtctcacaggtgacINSagagacaatcctgtcaactc							TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr20:17601284_17601285insA	uc010gcm.1	-	7	1000_1001	c.642_643insT	c.(640-645)tctgtcfs	p.S214fs	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Intron|RRBP1_uc002wpu.3_Intron|RRBP1_uc002wpw.1_Intron|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Intron			Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	889	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCACAGGTGACAGAGACAATCC	0.624													4	7	---	---	---	---						A	17601285	-	A	17601284	7	5	164	1	0	1	1	0	0	0	0	0	13678	493	17	0		0	RRBP1	20	17601284	Frame_Shift_Ins	INS	-	TCGA-EL-A3CU-01A-11D-A19J-08		17601284	45424236	15	2875											
MICALL1	85377	broad.mit.edu	37	chr22	38318081	38318081	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgccaggctgggcccgggGacacggtcggggaccaggcc	19	13	0	0			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr22:38318081G>A	uc003aui.3	+	5	947	c.672G>A	c.(670-672)ggG>ggA	p.G224G		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	224	LIM zinc-binding.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGGGCCCGGGGACACGGTCGG	0.652													4	40					0	0	1	0	0	A	38318081	G	A	38318081	2	1	164	1	0	0	0	0	0	0	0	1	9573	1161	41	2		2	MICALL1	22	38318081	Silent	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		38318081	12986485	16	2876											
MORF4L2	9643	broad.mit.edu	37	chrX	102931475	102931475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttgcaatttgcatactCctccagaattgcatctacat	4	11	2	1			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chrX:102931475C>T	uc004ekw.3	-	3	1713	c.481G>A	c.(481-483)Gag>Aag	p.E161K	MORF4L2_uc004ela.3_Missense_Mutation_p.E161K|MORF4L2_uc004elb.3_Missense_Mutation_p.E161K|MORF4L2_uc004ekx.3_Missense_Mutation_p.E161K|MORF4L2_uc004eky.3_Missense_Mutation_p.E161K|MORF4L2_uc010nos.3_Missense_Mutation_p.E161K|MORF4L2_uc004ekz.3_Missense_Mutation_p.E161K|MORF4L2_uc011mry.2_Missense_Mutation_p.E161K|MORF4L2_uc011mrz.2_Missense_Mutation_p.E161K|MORF4L2_uc004elc.3_Missense_Mutation_p.E161K|MORF4L2_uc004ele.3_Missense_Mutation_p.E161K|MORF4L2_uc004elf.3_Missense_Mutation_p.E161K|MORF4L2_uc011msa.2_Missense_Mutation_p.E161K|MORF4L2_uc011msb.2_Missense_Mutation_p.E161K|MORF4L2_uc011msc.2_Missense_Mutation_p.E161K|MORF4L2_uc011msd.2_Missense_Mutation_p.E161K|MORF4L2_uc004eld.3_Missense_Mutation_p.E161K|MORF4L2_uc022cbw.1_Missense_Mutation_p.E161K	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.	161					DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTTGCATACTCCTCCAGAATT	0.388													61	158					0	0	1	0	0	T	102931475	C	T	102931475	3	4	164	1	0	0	0	0	1	0	0	0	9707	864	30	2	389	2	MORF4L2	23	102931475	Missense_Mutation	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		102931475	52339085	17	2877											
GPR119	139760	broad.mit.edu	37	chrX	129519127	129519127	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtacctgtcaaaggtgaTcagcatgaccgtgaggacag	13	8	2	3			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chrX:129519127T>G	uc011muv.2	-	0	385	c.295A>C	c.(295-297)Atc>Ctc	p.I99L		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.	99						integral to membrane|plasma membrane	lipid binding	p.I99M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TCAAAGGTGATCAGCATGACC	0.592													52	114					0	0	1	0	0	G	129519127	T	G	129519127	3	3	164	1	0	0	0	0	1	0	0	0	6634	1435	50	5	716	5	GPR119	23	129519127	Missense_Mutation	SNP	T	TCGA-EL-A3CU-01A-11D-A19J-08	26587652	129519127	25751433	18	2878											
SCN3A	6328	broad.mit.edu	37	chr2	166027021	166027021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcagaggtggcactgaatCggaaaattgcctttccttta	11	8	0	2			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr2:166027021C>T	uc002ucx.3	-	3	794	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	SCN3A_uc002ucy.3_Missense_Mutation_p.R101Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R101Q|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	101						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R101L(3)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGCACTGAATCGGAAAATTGC	0.308													6	40					0	0	1	0	0	T	166027021	C	T	166027021	3	4	165	1	0	0	0	0	1	0	0	0	13918	884	31	1	5896	1	SCN3A	2	166027021	Missense_Mutation	SNP	C	TCGA-EL-A3CV-01A-11D-A19J-08		166027021	77172352	1	2879											
TRANK1	9881	broad.mit.edu	37	chr3	36872912	36872912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgccctcctcaacttcCgctgtatggaggccttccgt	10	15	1	0			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr3:36872912C>T	uc003cgj.3	-	20	8278	c.8030G>A	c.(8029-8031)cGg>cAg	p.R2677Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2677					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTCAACTTCCGCTGTATGGA	0.577													5	12					0	0	1	0	0	T	36872912	C	T	36872912	3	4	165	1	0	0	0	0	1	0	0	0	16451	652	23	1	759	1	TRANK1	3	36872912	Missense_Mutation	SNP	C	TCGA-EL-A3CV-01A-11D-A19J-08		36872912	161149518	2	2880											
PTCD2	79810	broad.mit.edu	37	chr5	71638813	71638813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggcaaaagctgtgtccAttttttctcaaatcatgaat	7	7	2	2			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr5:71638813A>G	uc003kcb.3	+	7	788	c.778A>G	c.(778-780)Att>Gtt	p.I260V	PTCD2_uc011csf.1_Missense_Mutation_p.I70V|PTCD2_uc003kcc.3_Missense_Mutation_p.I108V|PTCD2_uc011csg.2_Missense_Mutation_p.I88V|PTCD2_uc011csh.2_Missense_Mutation_p.I151V|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	260										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AGCTGTGTCCATTTTTTCTCA	0.313													14	39					0	0	1	0	0	G	71638813	A	G	71638813	3	3	165	1	0	0	0	0	1	0	0	0	12728	217	8	3	808	3	PTCD2	5	71638813	Missense_Mutation	SNP	A	TCGA-EL-A3CV-01A-11D-A19J-08		71638813	109276447	3	2881											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333660	28333660	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtgtgatgactgtgggaaGaccttcagccagagctgcag	15	8	1	4			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr6:28333660G>T	uc010jrc.3	+	6	1548	c.1215G>T	c.(1213-1215)aaG>aaT	p.K405N	ZKSCAN3_uc003nle.4_Missense_Mutation_p.K405N|ZKSCAN3_uc003nlf.4_Missense_Mutation_p.K257N	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	405					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						ACTGTGGGAAGACCTTCAGCC	0.507													21	60					0	0	1	0	0	T	28333660	G	T	28333660	3	4	165	1	0	0	0	0	1	0	0	0	17685	933	33	4	1233	4	ZKSCAN3	6	28333660	Missense_Mutation	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08		28333660	142781407	4	2882											
CNR1	1268	broad.mit.edu	37	chr6	88854344	88854344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggccaggggcctgtgaatgGatatgtacctgtcgatggct	15	8	0	1			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr6:88854344G>T	uc010kbz.3	-	1	780	c.650C>A	c.(649-651)tCc>tAc	p.S217Y	CNR1_uc011dzr.2_Missense_Mutation_p.S217Y|CNR1_uc011dzs.2_Missense_Mutation_p.S217Y|CNR1_uc003pmq.4_Missense_Mutation_p.S217Y|CNR1_uc011dzt.2_Missense_Mutation_p.S217Y|CNR1_uc010kca.3_Missense_Mutation_p.S184Y|CNR1_uc021zco.1_Missense_Mutation_p.S217Y	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	217					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CCTGTGAATGGATATGTACCT	0.577													10	40					0	0	1	0	0	T	88854344	G	T	88854344	3	4	165	1	0	0	0	0	1	0	0	0	3631	1174	41	4	772	4	CNR1	6	88854344	Missense_Mutation	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08	60520684	88854344	82260723	5	2883											
ZBTB24	9841	broad.mit.edu	37	chr6	109787075	109787075	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgctcctggccaagTggcgttggctggggcacgtg	16	12	1	0			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr6:109787075T>A	uc003ptl.1	-	6	2241	c.2073A>T	c.(2071-2073)ccA>ccT	p.P691P	MICAL1_uc011eaq.2_5'UTR|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Silent_p.P635P|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CCTGGCCAAGTGGCGTTGGCT	0.537													12	46					0	0	1	0	0	A	109787075	T	A	109787075	2	1	165	1	0	0	0	0	0	0	0	1	17528	1683	59	5		5	ZBTB24	6	109787075	Silent	SNP	T	TCGA-EL-A3CV-01A-11D-A19J-08	20932731	109787075	61327992	6	2884											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				12	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	165	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CV-01A-11D-A19J-08		140453136	18685527	7	2885											
ATP2C2	9914	broad.mit.edu	37	chr16	84438697	84438697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcctcattccttgctgcGcccatgagtgagcttgtgcc	11	13	1	2	rs146604607	by1000genomes	TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr16:84438697G>A	uc002fhy.3	+	0	665	c.225G>A	c.(223-225)gcG>gcA	p.A75A	ATP2C2_uc002fhx.3_Intron|ATP2C2_uc010chj.3_Intron|ATP2C2_uc002fhz.3_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	0					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCCTTGCTGCGCCCATGAGTG	0.612													3	38					0	0	1	0	0	A	84438697	G	A	84438697	2	1	165	1	0	0	0	0	0	0	0	1	1144	1102	38	1		1	ATP2C2	16	84438697	Silent	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08		84438697	5916056	8	2886											
CHCHD10	400916	broad.mit.edu	37	chr22	24109618	24109618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgaaggctccggtcagGgcgctgcccatgacgtgtcc	14	15	1	2			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr22:24109618G>A	uc002zxw.3	-	1	284	c.204C>T	c.(202-204)gcC>gcT	p.A68A		NM_213720	NP_998885	Q8WYQ3	CHC10_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10), mRNA.	68						mitochondrion				large_intestine(2)|lung(1)	3						CTCCGGTCAGGGCGCTGCCCA	0.692													2	3					0	0	1	0	0	A	24109618	G	A	24109618	2	1	165	1	0	0	0	0	0	0	0	1	3315	1219	43	2		2	CHCHD10	22	24109618	Silent	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08		24109618	27194948	9	2887											
MPZ	4359	broad.mit.edu	37	chr1	161279666	161279666	+	Frame_Shift_Del	DEL	G	G	-													agcacagccaggatagggctGgggctggatgagggagcccc							TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr1:161279666delG	uc001gaf.4	-	0	97	c.30delC	c.(28-30)cccfs	p.P10fs		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	10					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGATAGGGCTGGGGCTGGATG	0.617													2	4	---	---	---	---						-	161279666	G	-	161279666	7	5	166	1	0	1	0	1	0	0	0	0	9748	1335	47	0	740	0	MPZ	1	161279666	Frame_Shift_Del	DEL	G	TCGA-EL-A3CW-01A-11D-A19J-08		161279666	87970955	1	2888											
TMEM161B	153396	broad.mit.edu	37	chr5	87493539	87493539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattaccagaggcgccacaTactgcagtgcaatgacacaa	9	12	0	2			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr5:87493539T>C	uc003kjc.3	-	10	1258	c.1133A>G	c.(1132-1134)tAt>tGt	p.Y378C	TMEM161B_uc011cty.2_Missense_Mutation_p.Y367C|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctx.2_Missense_Mutation_p.Y169C	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	378						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGGCGCCACATACTGCAGTGC	0.423													4	85					0	0	1	0	0	C	87493539	T	C	87493539	3	2	166	1	0	0	0	0	1	0	0	0	16074	1406	49	3	338	3	TMEM161B	5	87493539	Missense_Mutation	SNP	T	TCGA-EL-A3CW-01A-11D-A19J-08		87493539	93421721	2	2889											
HAVCR2	84868	broad.mit.edu	37	chr5	156533625	156533625	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcataaagatggcatgcaAatgtccactcacctggtttg	8	9	2	1			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr5:156533625A>C	uc003lwl.3	-	1	661	c.407T>G	c.(406-408)tTt>tGt	p.F136C	HAVCR2_uc003lwk.2_Intron	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	0						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGCATGCAAATGTCCACTC	0.423													3	36					0	0	1	0	0	C	156533625	A	C	156533625	3	2	166	1	0	0	0	0	1	0	0	0	6974	29	1	5		5	HAVCR2	5	156533625	Missense_Mutation	SNP	A	TCGA-EL-A3CW-01A-11D-A19J-08	69040086	156533625	24381635	3	2890											
SOX4	6659	broad.mit.edu	37	chr6	21595266	21595267	+	In_Frame_Ins	INS	-	-	GGC													gtggcgggggcggccatgggINSggcggcggcggcggcgggag							TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr6:21595266_21595267insGGC	uc003ndi.3	+	0	1295_1296	c.501_502insGGC	c.(499-504)insGGC	p.173_174insG		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	173					DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			gcggccatgggggcggcggcgg	0.738													3	5	---	---	---	---						GGC	21595267	-	GGC	21595266	7	5	166	1	0	1	1	0	0	0	0	0	14953	1219	43	0	503	0	SOX4	6	21595266	In_Frame_Ins	INS	-	TCGA-EL-A3CW-01A-11D-A19J-08		21595266	149519801	4	2891											
YWHAG	7532	broad.mit.edu	37	chr7	75959220	75959220	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcgcccttttctctcCggtggccacttcagccaggt	9	17	2	0			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr7:75959220C>A	uc011kgj.1	-	1	635	c.418G>T	c.(418-420)Gga>Tga	p.G140*		NM_012479	NP_036611	P61981	1433G_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.	140					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTTTTCTCTCCGGTGGCCACT	0.562													7	143					0	0	1	0	0	A	75959220	C	A	75959220	4	1	166	1	0	0	0	0	0	1	0	0	17500	661	23	4	329	4	YWHAG	7	75959220	Nonsense_Mutation	SNP	C	TCGA-EL-A3CW-01A-11D-A19J-08		75959220	83179443	5	2892											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				3	74					0	0	1	0	0	T	140453136	A	T	140453136	3	4	166	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CW-01A-11D-A19J-08	64493916	140453136	18685527	6	2893											
AP3M1	26985	broad.mit.edu	37	chr10	75883629	75883629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactcctttaaatggcttaTatttctccccatacatgtcc	4	12	1	1			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr10:75883629T>C	uc001jwf.3	-	8	1626	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	AP3M1_uc001jwg.3_Missense_Mutation_p.Y399C|AP3M1_uc001jwh.3_Missense_Mutation_p.Y399C|AP3M1_uc010qla.2_Missense_Mutation_p.Y345C	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.	399	MHD.				protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AAATGGCTTATATTTCTCCCC	0.363													9	189					0	0	1	0	0	C	75883629	T	C	75883629	3	2	166	1	0	0	0	0	1	0	0	0	747	1406	49	3	64	3	AP3M1	10	75883629	Missense_Mutation	SNP	T	TCGA-EL-A3CW-01A-11D-A19J-08		75883629	59651118	7	2894											
ITPR2	3709	broad.mit.edu	37	chr12	26572040	26572040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgcaaaccaggacatacGccacgtgatagagaaaggcc	11	11	0	2			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr12:26572040G>A	uc001rhg.3	-	49	7469	c.7052C>T	c.(7051-7053)gCg>gTg	p.A2351V	ITPR2_uc009zjg.1_Missense_Mutation_p.A502V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2351					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.V2350M(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGGACATACGCCACGTGATA	0.448													4	59					0	0	1	0	0	A	26572040	G	A	26572040	3	1	166	1	0	0	0	0	1	0	0	0	7921	1087	38	1	1085	1	ITPR2	12	26572040	Missense_Mutation	SNP	G	TCGA-EL-A3CW-01A-11D-A19J-08		26572040	107279855	8	2895											
RPAP3	79657	broad.mit.edu	37	chr12	48091473	48091473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactcatgggtactatcGtctttgtcaagctcatcaag	9	9	5	1	rs150350108		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr12:48091473G>A	uc001rpr.3	-	3	440	c.324C>T	c.(322-324)gaC>gaT	p.D108D	RPAP3_uc010slk.2_5'UTR|RPAP3_uc001rps.3_Silent_p.D108D	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	108							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GGGTACTATCGTCTTTGTCAA	0.353													8	99					0	0	1	0	0	A	48091473	G	A	48091473	2	1	166	1	0	0	0	0	0	0	0	1	13543	1136	40	1		1	RPAP3	12	48091473	Silent	SNP	G	TCGA-EL-A3CW-01A-11D-A19J-08	21519433	48091473	85760422	9	2896											
C19orf44	84167	broad.mit.edu	37	chr19	16614022	16614022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagactacccacagagtcaCgtttccagtgacaccgcctc	8	16	1	3	rs138964724	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr19:16614022C>T	uc002neh.1	+	2	979	c.906C>T	c.(904-906)caC>caT	p.H302H	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.H302H|C19orf44_uc002neg.3_Silent_p.H302H|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	302										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CACAGAGTCACGTTTCCAGTG	0.547													6	90					0	0	1	0	0	T	16614022	C	T	16614022	2	4	166	1	0	0	0	0	0	0	0	1	1927	535	19	1		1	C19orf44	19	16614022	Silent	SNP	C	TCGA-EL-A3CW-01A-11D-A19J-08		16614022	42514961	10	2897											
C22orf40	150383	broad.mit.edu	37	chr22	46643010	46643010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgctgcttacccaccggGcccacacacaccagcctgct	7	21	0	0			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr22:46643010G>A	uc003bhe.3	-	2	263	c.222C>T	c.(220-222)ggC>ggT	p.G74G	C22orf40_uc003bhf.3_Non-coding_Transcript	NM_207327	NP_997210	Q6NVV7	CV040_HUMAN	Homo sapiens chromosome 22 open reading frame 40 (C22orf40), mRNA.	74										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TACCCACCGGGCCCACACACA	0.617													3	21					0	0	1	0	0	A	46643010	G	A	46643010	2	1	166	1	0	0	0	0	0	0	0	1	2148	1190	42	2		2	C22orf40	22	46643010	Silent	SNP	G	TCGA-EL-A3CW-01A-11D-A19J-08		46643010	4661556	11	2898											
OR5H14	403273	broad.mit.edu	37	chr3	97868995	97868995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatactatgggcccctcGccttcatgtatatgggctct	8	12	2	0	rs148799830		TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr3:97868995G>A	uc003dsg.1	+	0	766	c.766G>A	c.(766-768)Gcc>Acc	p.A256T		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGCCCCTCGCCTTCATGTA	0.413													20	34					0	0	1	0	0	A	97868995	G	A	97868995	3	1	167	1	0	0	0	0	1	0	0	0	11160	1087	38	1	768	1	OR5H14	3	97868995	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08		97868995	100153435	1	2899											
OR5K4	403278	broad.mit.edu	37	chr3	98073450	98073450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctctctgtctcaatattTtacatttgtcttctcatgta	3	9	5	0			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr3:98073450T>C	uc011bgv.2	+	0	753	c.753T>C	c.(751-753)ttT>ttC	p.F251F		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCTCAATATTTTACATTTGTC	0.363													67	62					0	0	1	0	0	C	98073450	T	C	98073450	2	2	167	1	0	0	0	0	0	0	0	1	11169	1838	64	3		3	OR5K4	3	98073450	Silent	SNP	T	TCGA-EL-A3CX-01A-11D-A19J-08	204455	98073450	99948980	2	2900											
TMCC1	23023	broad.mit.edu	37	chr3	129389482	129389482	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcactcccaaagccttccccGcatcatccacttgcccttcc	3	21	2	0			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr3:129389482G>C	uc021xdy.1	-	3	1636	c.1202C>G	c.(1201-1203)gCg>gGg	p.A401G	TMCC1_uc003emy.4_Missense_Mutation_p.A77G|TMCC1_uc011blc.2_Missense_Mutation_p.A222G|TMCC1_uc010htg.3_Missense_Mutation_p.A287G	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	401						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGCCTTCCCCGCATCATCCAC	0.483													35	48					0	0	1	0	0	C	129389482	G	C	129389482	3	2	167	1	0	0	0	0	1	0	0	0	15989	1087	38	4	771	4	TMCC1	3	129389482	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08	31316032	129389482	68632948	3	2901											
MMRN1	22915	broad.mit.edu	37	chr4	90857420	90857421	+	Frame_Shift_Del	DEL	AG	AG	-													aattttgagactcggttgcaAgacattgagtctaaagttac							TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr4:90857420_90857421delAG	uc003hst.3	+	5	2660_2661	c.2589_2590delAG	c.(2587-2592)caagacfs	p.Q863fs	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Frame_Shift_Del_p.Q605fs	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	863					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.L862L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTCGGTTGCAAGACATTGAGTC	0.366													8	12	---	---	---	---						-	90857421	AG	-	90857420	7	5	167	1	0	1	0	1	0	0	0	0	9670	69	3	0	2611	0	MMRN1	4	90857420	Frame_Shift_Del	DEL	AG	TCGA-EL-A3CX-01A-11D-A19J-08		90857420	100296856	4	2902											
ADAMTS16	170690	broad.mit.edu	37	chr5	5140871	5140871	+	Frame_Shift_Del	DEL	A	A	-													ggagcggccgggctggatggAaaagggcggtaagtccgtga							TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr5:5140871delA	uc003jdl.3	+	1	305	c.167delA	c.(166-168)gaafs	p.E56fs	ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.E56fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.E56fs	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	56					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCTGGATGGAAAAGGGCGGT	0.652													2	4	---	---	---	---						-	5140871	A	-	5140871	7	5	167	1	0	1	0	1	0	0	0	0	261	246	9	0	173	0	ADAMTS16	5	5140871	Frame_Shift_Del	DEL	A	TCGA-EL-A3CX-01A-11D-A19J-08		5140871	175774389	5	2903											
APC	324	broad.mit.edu	37	chr5	112116592	112116592	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccaggatatggaaaaaCgagcacaggtaagttacttg	11	8	0	0			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr5:112116592C>T	uc003kpz.4	+	6	830	c.637C>T	c.(637-639)Cga>Tga	p.R213*	APC_uc011cvt.2_Nonsense_Mutation_p.R223*|APC_uc003kpy.4_Nonsense_Mutation_p.R213*|APC_uc010jbz.3_5'UTR	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	213	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R213*(43)|p.K212*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATGGAAAAACGAGCACAGGT	0.348		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			16	1					0	0	1	0	0	T	112116592	C	T	112116592	4	4	167	1	0	0	0	0	0	1	0	0	763	528	19	1	655	1	APC	5	112116592	Nonsense_Mutation	SNP	C	TCGA-EL-A3CX-01A-11D-A19J-08	106975721	112116592	68798668	6	2904											
FLNC	2318	broad.mit.edu	37	chr7	128470999	128470999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggagaacgtgtccgtggCcctcgagttcctcgagcgcg	15	13	0	1			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr7:128470999C>G	uc003vnz.4	+	0	517	c.308C>G	c.(307-309)gCc>gGc	p.A103G	FLNC_uc003voa.4_Missense_Mutation_p.A103G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	103	Actin-binding.|CH 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGTCCGTGGCCCTCGAGTTC	0.652													16	25					0	0	1	0	0	G	128470999	C	G	128470999	3	3	167	1	0	0	0	0	1	0	0	0	5935	739	26	4	310	4	FLNC	7	128470999	Missense_Mutation	SNP	C	TCGA-EL-A3CX-01A-11D-A19J-08		128470999	30667664	7	2905											
FHOD3	80206	broad.mit.edu	37	chr18	34326989	34326989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcacctcaaggcaattGcaaaacatgaaatgaaacca	8	9	2	2			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr18:34326989G>A	uc021uiv.1	+	23	4220	c.4123G>A	c.(4123-4125)Gca>Aca	p.A1375T	FHOD3_uc002kzs.1_Missense_Mutation_p.A1200T|FHOD3_uc002kzt.1_Missense_Mutation_p.A1183T|FHOD3_uc010dmz.1_Missense_Mutation_p.A915T|FHOD3_uc010dnb.1_Missense_Mutation_p.A179T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1183	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAAGGCAATTGCAAAACATGA	0.373													33	28					0	0	1	0	0	A	34326989	G	A	34326989	3	1	167	1	0	0	0	0	1	0	0	0	5883	1319	46	2	3680	2	FHOD3	18	34326989	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08		34326989	43750259	8	2906											
RALGAPA2	57186	broad.mit.edu	37	chr20	20506939	20506939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcaaacatctgaagcTtctcccagtaggaaaccagc	8	11	3	1			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr20:20506939T>C	uc002wrz.3	-	27	3793	c.3650A>G	c.(3649-3651)aAg>aGg	p.K1217R	RALGAPA2_uc002wry.3_Missense_Mutation_p.K832R|RALGAPA2_uc010zsg.2_Missense_Mutation_p.K665R|RALGAPA2_uc002wsa.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1217					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CATCTGAAGCTTCTCCCAGTA	0.408													3	15					0	0	1	0	0	C	20506939	T	C	20506939	3	2	167	1	0	0	0	0	1	0	0	0	13014	1609	56	3	2019	3	RALGAPA2	20	20506939	Missense_Mutation	SNP	T	TCGA-EL-A3CX-01A-11D-A19J-08		20506939	42518581	9	2907											
FNBP4	23360	broad.mit.edu	37	chr11	47744665	47744665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctcgggcctgaactgGctgcaatgagggagcagtca	14	11	1	2			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr11:47744665G>A	uc009ylv.3	-	14	2821	c.2668C>T	c.(2668-2670)Cca>Tca	p.P890S	FNBP4_uc001ngj.3_Missense_Mutation_p.P797S	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	890										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCCTGAACTGGCTGCAATGAG	0.547													3	39					0	0	1	0	0	A	47744665	G	A	47744665	3	1	168	1	0	0	0	0	1	0	0	0	5967	1203	42	2	397	2	FNBP4	11	47744665	Missense_Mutation	SNP	G	TCGA-EL-A3CY-01A-11D-A19J-08		47744665	87261851	1	2908											
SEC23A	10484	broad.mit.edu	37	chr14	39560843	39560843	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacatctgcatggattctttCagggcttgtaaatcttcatc	8	9	5	0			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr14:39560843C>T	uc001wup.1	-	4	664	c.441G>A	c.(439-441)ctG>ctA	p.L147L	SEC23A_uc010tqa.1_Silent_p.L9L|SEC23A_uc010tqb.1_Silent_p.L118L|SEC23A_uc010tqc.1_Silent_p.L9L	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	147					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TGGATTCTTTCAGGGCTTGTA	0.383													6	76					0	0	1	0	0	T	39560843	C	T	39560843	2	4	168	1	0	0	0	0	0	0	0	1	13991	813	29	2		2	SEC23A	14	39560843	Silent	SNP	C	TCGA-EL-A3CY-01A-11D-A19J-08		39560843	67788697	2	2909											
INPP5K	51763	broad.mit.edu	37	chr17	1400056	1400056	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccacggtccacaggtcctcGggcatcaggacgatcagcgg	13	14	2	0			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr17:1400056G>C	uc002fsr.3	-	8	1394	c.1005C>G	c.(1003-1005)ccC>ccG	p.P335P	INPP5K_uc002fss.3_Silent_p.P259P|INPP5K_uc002fsq.3_Silent_p.P259P|INPP5K_uc010cjr.3_Silent_p.P259P|INPP5K_uc010vql.2_Silent_p.P243P|INPP5K_uc010vqm.2_Silent_p.P239P	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	335	Required for ruffle localization.				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						ACAGGTCCTCGGGCATCAGGA	0.582													3	43					0	0	1	0	0	C	1400056	G	C	1400056	2	2	168	1	0	0	0	0	0	0	0	1	7760	1103	39	4		4	INPP5K	17	1400056	Silent	SNP	G	TCGA-EL-A3CY-01A-11D-A19J-08		1400056	79795154	3	2910											
HELZ	9931	broad.mit.edu	37	chr17	65186416	65186416	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccattctgctagttcttcctGggaatgtgctgaagtacact	9	10	2	1			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr17:65186416G>C	uc010wqk.2	-	9	800	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.Q205E	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.									p.Q205*(2)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGTTCTTCCTGGGAATGTGCT	0.378													3	44					0	0	1	0	0	C	65186416	G	C	65186416	3	2	168	1	0	0	0	0	1	0	0	0	7049	1357	47	4	5311	4	HELZ	17	65186416	Missense_Mutation	SNP	G	TCGA-EL-A3CY-01A-11D-A19J-08	63786360	65186416	16008794	4	2911											
GNPAT	8443	broad.mit.edu	37	chr1	231411916	231411916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaatgtgaatgaacctgCcacaaccaaattagaagaaa	6	7	0	4			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr1:231411916C>T	uc001hup.4	+	14	2179	c.1973C>T	c.(1972-1974)gCc>gTc	p.A658V	GNPAT_uc009xfp.3_Missense_Mutation_p.A597V	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	658					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AATGAACCTGCCACAACCAAA	0.274													4	17					0	0	1	0	0	T	231411916	C	T	231411916	3	4	169	1	0	0	0	0	1	0	0	0	6541	739	26	2	2031	2	GNPAT	1	231411916	Missense_Mutation	SNP	C	TCGA-EL-A3CZ-01A-11D-A19J-08		231411916	17838705	1	2912											
RAPH1	65059	broad.mit.edu	37	chr2	204304820	204304821	+	Frame_Shift_Ins	INS	-	-	T													gaaggttgactccagaaagaINSttgagttttccaggcttggg							TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr2:204304820_204304821insT	uc002vad.3	-	13	3317_3318	c.3092_3093insA	c.(3091-3093)aatfs	p.N1031fs		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	1031					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCCAGAAAGATTGAGTTTTCC	0.545													39	66	---	---	---	---						T	204304821	-	T	204304820	7	5	169	1	0	1	1	0	0	0	0	0	13050	330	12	0	663	0	RAPH1	2	204304820	Frame_Shift_Ins	INS	-	TCGA-EL-A3CZ-01A-11D-A19J-08		204304820	38894553	2	2913											
PHIP	55023	broad.mit.edu	37	chr6	79707237	79707237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgttgctgtgcatttgccGtacaccttcaatttgtccac	8	12	1	0			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr6:79707237G>A	uc003pir.3	-	18	2321	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	PHIP_uc011dyp.2_Missense_Mutation_p.R699W	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	699					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	p.V698E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCATTTGCCGTACACCTTCA	0.468													31	55					0	0	1	0	0	A	79707237	G	A	79707237	3	1	169	1	0	0	0	0	1	0	0	0	11842	1144	40	1	3458	1	PHIP	6	79707237	Missense_Mutation	SNP	G	TCGA-EL-A3CZ-01A-11D-A19J-08		79707237	91407830	3	2914											
BTRC	8945	broad.mit.edu	37	chr10	103292735	103292735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaaaacacattggaatgCaagcgaattctcacaggcca	8	9	1	0			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr10:103292735C>T	uc001kta.3	+	8	1118	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	BTRC_uc001ktb.3_Silent_p.C299C|BTRC_uc001ktc.3_Silent_p.C309C	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	335					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CATTGGAATGCAAGCGAATTC	0.438													6	90					0	0	1	0	0	T	103292735	C	T	103292735	2	4	169	1	0	0	0	0	0	0	0	1	1569	718	25	2		2	BTRC	10	103292735	Silent	SNP	C	TCGA-EL-A3CZ-01A-11D-A19J-08		103292735	32242012	4	2915											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			32	46					0	0	1	0	0	C	533874	T	C	533874	3	2	169	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EL-A3CZ-01A-11D-A19J-08		533874	134472642	5	2916											
GPATCH8	23131	broad.mit.edu	37	chr17	42475015	42475015	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtgaaggtgaagtgcaGtggcagctgctgcagcaggc	19	7	0	2			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr17:42475015G>C	uc002igw.2	-	7	4649	c.4430C>G	c.(4429-4431)aCt>aGt	p.T1477S	GPATCH8_uc002igv.2_Missense_Mutation_p.T1399S|GPATCH8_uc010wiz.2_Missense_Mutation_p.T1399S	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1477	Poly-Ala.					intracellular	nucleic acid binding|zinc ion binding	p.A1474_A1478delAAATA(2)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGAAGTGCAGTGGCAGCTGC	0.612													9	20					0	0	1	0	0	C	42475015	G	C	42475015	3	2	169	1	0	0	0	0	1	0	0	0	6594	1029	36	4	82	4	GPATCH8	17	42475015	Missense_Mutation	SNP	G	TCGA-EL-A3CZ-01A-11D-A19J-08		42475015	38720195	6	2917											
PLB1	151056	broad.mit.edu	37	chr2	28808648	28808648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgtgtccctgtgtccTgaagtttgatgataactcaa	9	9	2	3			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:28808648T>C	uc002rmb.2	+	25	1798	c.1754T>C	c.(1753-1755)cTg>cCg	p.L585P	PLB1_uc010ezj.2_Missense_Mutation_p.L574P|PLB1_uc002rmc.3_Missense_Mutation_p.L273P|PLB1_uc002rmd.1_Missense_Mutation_p.L95P	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	585	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCTGTGTCCTGAAGTTTGAT	0.468													3	99					0	0	1	0	0	C	28808648	T	C	28808648	3	2	170	1	0	0	0	0	1	0	0	0	12024	1580	55	3	1889	3	PLB1	2	28808648	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		28808648	214390725	1	2918											
LOC728819	728819	broad.mit.edu	37	chr2	43902586	43902586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtgtccaaatgccctgagCcggtacaggccatacatcat	9	12	1	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:43902586C>T	uc010fav.1	-	0	876	c.876G>A	c.(874-876)cgG>cgA	p.R292R	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGCCCTGAGCCGGTACAGGC	0.458													3	38					0	0	1	0	0	T	43902586	C	T	43902586	2	4	170	1	0	0	0	0	0	0	0	1	8887	726	26	2		2	LOC728819	2	43902586	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	15093938	43902586	199296787	2	2919											
GPR155	151556	broad.mit.edu	37	chr2	175335223	175335223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaacttgtatggttcacCacactgtcgcccttgtccaa	7	12	1	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:175335223C>T	uc002uit.3	-	4	1312	c.921G>A	c.(919-921)gtG>gtA	p.V307V	GPR155_uc002uiu.3_Silent_p.V307V|GPR155_uc002uiv.3_Silent_p.V307V|GPR155_uc010fqs.3_Silent_p.V307V	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	307					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TATGGTTCACCACACTGTCGC	0.408													5	54					0	0	1	0	0	T	175335223	C	T	175335223	2	4	170	1	0	0	0	0	0	0	0	1	6660	581	21	2		2	GPR155	2	175335223	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	131432637	175335223	67864150	3	2920											
WDR5B	54554	broad.mit.edu	37	chr3	122134317	122134317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcacttccttgctctgaTtggccgatgaggagagggcc	14	11	1	3	rs144433176	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr3:122134317T>G	uc003efa.1	-	0	566	c.59A>C	c.(58-60)aAt>aCt	p.N20T		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	Homo sapiens WD repeat domain 5B (WDR5B), mRNA.	20								p.A19V(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTTGCTCTGATTGGCCGATGA	0.498													76	103					0	0	1	0	0	G	122134317	T	G	122134317	3	3	170	1	0	0	0	0	1	0	0	0	17306	1493	52	5	937	5	WDR5B	3	122134317	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		122134317	75888113	4	2921											
MYO10	4651	broad.mit.edu	37	chr5	16769308	16769308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactgcatcacgtccattGccgtctagaagaaaataaat	7	9	2	3			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:16769308G>A	uc003jft.4	-	9	1403	c.935C>T	c.(934-936)gCa>gTa	p.A312V		NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	312	Myosin head-like.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACGTCCATTGCCGTCTAGAA	0.373													14	8					0	0	1	0	0	A	16769308	G	A	16769308	3	1	170	1	0	0	0	0	1	0	0	0	10062	1319	46	2	5369	2	MYO10	5	16769308	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		16769308	164145952	5	2922											
DIAPH1	1729	broad.mit.edu	37	chr5	140908072	140908072	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctggaaacttgaggacatcGggatagtcattctcacacaa	9	9	3	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:140908072G>C	uc003llb.4	-	22	3237	c.3096C>G	c.(3094-3096)ccC>ccG	p.P1032P	DIAPH1_uc011dbd.2_5'Flank|DIAPH1_uc003llc.4_Silent_p.P1023P|DIAPH1_uc021yep.1_Silent_p.P1032P|DIAPH1_uc021yeq.1_Silent_p.P1023P|DIAPH1_uc010jgc.1_Silent_p.P468P	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	1032	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGACATCGGGATAGTCAT	0.498													30	41					0	0	1	0	0	C	140908072	G	C	140908072	2	2	170	1	0	0	0	0	0	0	0	1	4518	1103	39	4		4	DIAPH1	5	140908072	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	124138764	140908072	40007188	6	2923											
ZNF318	24149	broad.mit.edu	37	chr6	43325106	43325106	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggcaagatccagttctcGaaactcagggtcgagaaacc	10	11	3	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:43325106G>A	uc003oux.3	-	2	1024	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	316					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.R316*(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCAGTTCTCGAAACTCAGGG	0.522													16	55					0	0	1	0	0	A	43325106	G	A	43325106	4	1	170	1	0	0	0	0	0	1	0	0	17833	1066	37	1	5925	1	ZNF318	6	43325106	Nonsense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		43325106	127789961	7	2924											
BEND6	221336	broad.mit.edu	37	chr6	56883337	56883337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatcttaactctcaggaTattaaatagatccttttggt	5	6	2	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:56883337T>A	uc010kab.3	+	5	1417	c.831T>A	c.(829-831)gaT>gaA	p.D277E	BEND6_uc003pdi.4_Missense_Mutation_p.D179E	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	277								p.D277Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ACTCTCAGGATATTAAATAGA	0.313													18	32					0	0	1	0	0	A	56883337	T	A	56883337	3	1	170	1	0	0	0	0	1	0	0	0	1402	1403	49	5	849	5	BEND6	6	56883337	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08	13558231	56883337	114231730	8	2925											
MED23	9439	broad.mit.edu	37	chr6	131926420	131926420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaatccaggaggttcaTaggtaagggggtaatagatc	14	5	1	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:131926420T>C	uc003qcs.1	-	13	1747	c.1573A>G	c.(1573-1575)Atg>Gtg	p.M525V	MED23_uc003qcq.3_Missense_Mutation_p.M531V|MED23_uc011eca.1_Missense_Mutation_p.M166V|MED23_uc003qct.1_Missense_Mutation_p.M531V|MED23_uc011ecb.1_Intron	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	525					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGGAGGTTCATAGGTAAGGGG	0.393													3	85					0	0	1	0	0	C	131926420	T	C	131926420	3	2	170	1	0	0	0	0	1	0	0	0	9441	1406	49	3	2604	3	MED23	6	131926420	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08	75043083	131926420	39188647	9	2926											
CCL24	6369	broad.mit.edu	37	chr7	75441263	75441263	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcgccacagaactgctGgcccttcttggtggtgaagc	15	11	1	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:75441263G>C	uc011kga.2	-	2	270	c.211C>G	c.(211-213)Cag>Gag	p.Q71E		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	71					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						CAGAACTGCTGGCCCTTCTTG	0.612													3	97					0	0	1	0	0	C	75441263	G	C	75441263	3	2	170	1	0	0	0	0	1	0	0	0	2896	1357	47	4	150	4	CCL24	7	75441263	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		75441263	83697400	10	2927											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				65	50					0	0	1	0	0	T	140453136	A	T	140453136	3	4	170	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08	65011873	140453136	18685527	11	2928											
UBXN2B	137886	broad.mit.edu	37	chr8	59352245	59352245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggccaagtgaatttggAtatggaggatcatcaggatc	14	5	2	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:59352245A>G	uc003xtl.3	+	5	709	c.587A>G	c.(586-588)gAt>gGt	p.D196G		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.	196	SEP.					Golgi apparatus|cytosol|endoplasmic reticulum|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGAATTTGGATATGGAGGAT	0.383													20	119					0	0	1	0	0	G	59352245	A	G	59352245	3	3	170	1	0	0	0	0	1	0	0	0	16912	333	12	3	609	3	UBXN2B	8	59352245	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08		59352245	87011777	12	2929											
ENPP2	5168	broad.mit.edu	37	chr8	120650732	120650732	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaatcctaagcagatAttgactccaacggcaaaagt	9	9	0	3			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:120650732A>G	uc003yos.2	-	1	155	c.69T>C	c.(67-69)aaT>aaC	p.N23N	ENPP2_uc010mdd.2_Silent_p.N23N|ENPP2_uc003yot.2_Silent_p.N23N	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	23				N -> S (in Ref. 1; AAA64785 and 5; ABW38316).	G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTAAGCAGATATTGACTCCAA	0.378													38	128					0	0	1	0	0	G	120650732	A	G	120650732	2	3	170	1	0	0	0	0	0	0	0	1	5130	446	16	3		3	ENPP2	8	120650732	Silent	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08	61298487	120650732	25713290	13	2930											
OR1J2	26740	broad.mit.edu	37	chr9	125273586	125273586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgacccggctgtctttctGtgctgcgaacaccatccccc	8	18	2	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr9:125273586G>T	uc004bmj.2	+	3	832	c.506G>T	c.(505-507)tGt>tTt	p.C169F	OR1J2_uc011lyv.2_Missense_Mutation_p.C169F	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTGTCTTTCTGTGCTGCGAAC	0.522													23	148					0	0	1	0	0	T	125273586	G	T	125273586	3	4	170	1	0	0	0	0	1	0	0	0	10960	1377	48	4	508	4	OR1J2	9	125273586	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		125273586	15939845	14	2931											
MLLT10	8028	broad.mit.edu	37	chr10	22022990	22022990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaatgtcccagaacccTacccctctcacccacacaac	3	20	2	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr10:22022990T>C	uc001iqt.3	+	19	3139	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	MLLT10_uc001iqs.3_Silent_p.P946P|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc021pny.1_Silent_p.P930P|MLLT10_uc001ira.3_Silent_p.P387P|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	946					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCCAGAACCCTACCCCTCTCA	0.438			T	"MLL, PICALM, CDK6"	AL								3	81					0	0	1	0	0	C	22022990	T	C	22022990	2	2	170	1	0	0	0	0	0	0	0	1	9626	1509	53	3		3	MLLT10	10	22022990	Silent	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		22022990	113511757	15	2932											
LRRC56	115399	broad.mit.edu	37	chr11	552111	552111	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagggagccccccgagcagCtgccccaacacaggccagga	12	18	0	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:552111C>G	uc010qvz.2	+	11	1565	c.1060C>G	c.(1060-1062)Ctg>Gtg	p.L354V		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	354										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCGAGCAGCTGCCCCAACA	0.677													33	84					0	0	1	0	0	G	552111	C	G	552111	3	3	170	1	0	0	0	0	1	0	0	0	9012	796	28	4	1094	4	LRRC56	11	552111	Missense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		552111	134454405	16	2933											
CASP4	837	broad.mit.edu	37	chr11	104825694	104825694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatctttgcccagggattcCaacaccttaagtggcttttt	7	10	1	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:104825694C>T	uc001pid.1	-	1	115	c.42G>A	c.(40-42)ttG>ttA	p.L14L	CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Silent_p.L14L|CASP4_uc010ruy.1_Silent_p.L14L	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	14	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCAGGGATTCCAACACCTTAA	0.388													27	63					0	0	1	0	0	T	104825694	C	T	104825694	2	4	170	1	0	0	0	0	0	0	0	1	2673	593	21	2		2	CASP4	11	104825694	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	104273583	104825694	30180822	17	2934											
MBD6	114785	broad.mit.edu	37	chr12	57921648	57921648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgacctgtcttcactgAccagcagccctggagccctc	10	16	2	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:57921648A>G	uc001soj.1	+	8	2478	c.2254A>G	c.(2254-2256)Acc>Gcc	p.T752A	MBD6_uc001sok.1_Missense_Mutation_p.T619A|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	752	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTCTTCACTGACCAGCAGCCC	0.577													3	238					0	0	1	0	0	G	57921648	A	G	57921648	3	3	170	1	0	0	0	0	1	0	0	0	9348	275	10	3	2280	3	MBD6	12	57921648	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08		57921648	75930247	18	2935											
GCN1L1	10985	broad.mit.edu	37	chr12	120572142	120572142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgagacgatgtttttccGgatgacggcatccactttgg	13	8	0	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:120572142G>A	uc001txo.3	-	52	7283	c.7270C>T	c.(7270-7272)Cgg>Tgg	p.R2424W		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2424					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTTTTTCCGGATGACGGCA	0.592													10	98					0	0	1	0	0	A	120572142	G	A	120572142	3	1	170	1	0	0	0	0	1	0	0	0	6299	1115	39	1	769	1	GCN1L1	12	120572142	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	62650494	120572142	13279753	19	2936											
CAMKK2	10645	broad.mit.edu	37	chr12	121706441	121706441	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggcccgccaaactcacGtggaaagccggcctgccgga	12	15	1	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:121706441G>A	uc001tzu.3	-	5	800	c.625_splice	c.e5+1	p.R209_splice	CAMKK2_uc001tzt.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzv.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzw.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzx.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzy.3_Splice_Site_p.R209_splice|CAMKK2_uc001uaa.1_Splice_Site_p.R209_splice|CAMKK2_uc001uab.3_Splice_Site_p.R209_splice|CAMKK2_uc001uac.3_Splice_Site_p.R209_splice	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	209	Protein kinase.|RP domain.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAAACTCACGTGGAAAGCCG	0.552													114	154					0	0	1	0	0	A	121706441	G	A	121706441	5	1	170	1	0	0	0	0	0	0	1	0	2607	1159	40	1	1203	1	CAMKK2	12	121706441	Splice_Site	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	1134299	121706441	12145454	20	2937											
DACH1	1602	broad.mit.edu	37	chr13	72204797	72204797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaccttcattgcttcAgcaatagctgcattggtagc	7	10	3	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr13:72204797A>G	uc021rkj.1	-	2	1446	c.1023T>C	c.(1021-1023)gcT>gcC	p.A341A	DACH1_uc021rkk.1_Silent_p.A341A|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	339	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.A341V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTGCTTcagcaatagctg	0.393													3	208					0	0	1	0	0	G	72204797	A	G	72204797	2	3	170	1	0	0	0	0	0	0	0	1	4220	175	7	3		3	DACH1	13	72204797	Silent	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08		72204797	42965081	21	2938											
LRRC16B	90668	broad.mit.edu	37	chr14	24538027	24538027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctagctccatggcctccCaagccagtggctgtgcccag	11	16	1	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr14:24538027C>T	uc001wlj.2	+	37	3991	c.3834C>T	c.(3832-3834)ccC>ccT	p.P1278P	LRRC16B_uc001wlk.2_Silent_p.P331P|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1278										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CATGGCCTCCCAAGCCAGTGG	0.637													9	32					0	0	1	0	0	T	24538027	C	T	24538027	2	4	170	1	0	0	0	0	0	0	0	1	8972	581	21	2		2	LRRC16B	14	24538027	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		24538027	82811513	22	2939											
SNX22	79856	broad.mit.edu	37	chr15	64446698	64446698	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccctgctcctctgccaccGatgccctgatcagtccagag	8	18	2	2	rs143435068	by1000genomes	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr15:64446698G>A	uc002anc.1	+	6	632	c.573G>A	c.(571-573)ccG>ccA	p.P191P	SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_Non-coding_Transcript|SNX22_uc021sow.1_5'Flank	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	Homo sapiens sorting nexin 22 (SNX22), mRNA.	191				P -> L (in Ref. 2; BAB14776).	cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						CTCTGCCACCGATGCCCTGAT	0.572													129	134					0	0	1	0	0	A	64446698	G	A	64446698	2	1	170	1	0	0	0	0	0	0	0	1	14894	1045	37	1		1	SNX22	15	64446698	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		64446698	38084694	23	2940											
PRSS53	339105	broad.mit.edu	37	chr16	31096483	31096483	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgacaccagggctcCgccacaggccagctgtccct	9	19	1	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr16:31096483C>A	uc002eaq.3	-	6	982	c.982G>T	c.(982-984)Gga>Tga	p.G328*	PRSS53_uc002ear.3_Nonsense_Mutation_p.G122*	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	328	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						ACCAGGGCTCCGCCACAGGCC	0.667													3	22					0	0	1	0	0	A	31096483	C	A	31096483	4	1	170	1	0	0	0	0	0	1	0	0	12632	661	23	4	699	4	PRSS53	16	31096483	Nonsense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		31096483	59258270	24	2941											
ABCA5	23461	broad.mit.edu	37	chr17	67287453	67287453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaatctgaccctcatataTgtcaaatgacaaatctagtt	5	8	4	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr17:67287453T>C	uc002jif.2	-	10	2728	c.1510A>G	c.(1510-1512)Ata>Gta	p.I504V	ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.I504V|ABCA5_uc002jih.2_Missense_Mutation_p.I504V|ABCA5_uc010dfe.2_Missense_Mutation_p.I504V	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	504	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.D503Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCCTCATATATGTCAAATGAC	0.363													9	38					0	0	1	0	0	C	67287453	T	C	67287453	3	2	170	1	0	0	0	0	1	0	0	0	35	1464	51	3	3530	3	ABCA5	17	67287453	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		67287453	13907757	25	2942											
C19orf29	58509	broad.mit.edu	37	chr19	3612148	3612148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggagcgcttgtcgatgaggtCggggtagaagatgttgaact	17	5	0	4			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:3612148C>A	uc002lyh.3	-	9	2103	c.2050G>T	c.(2050-2052)Gac>Tac	p.D684Y	C19orf29-AS1_uc021umw.1_Silent_p.V119V|C19orf29_uc010xho.2_Missense_Mutation_p.D143Y|C19orf29_uc010dtn.3_Missense_Mutation_p.D532Y|C19orf29_uc002lyi.4_Missense_Mutation_p.D684Y|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	684						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGATGAGGTCGGGGTAGAAG	0.592													47	190					0	0	1	0	0	A	3612148	C	A	3612148	3	1	170	1	0	0	0	0	1	0	0	0	1918	884	31	4	230	4	C19orf29	19	3612148	Missense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		3612148	55516835	26	2943											
FBN3	84467	broad.mit.edu	37	chr19	8196578	8196578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccccatagcaggtgctgCgcacgtgggtgtccacgcac	14	14	0	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:8196578C>T	uc002mjf.3	-	13	1867	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	617						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.V616V(1)|p.V616E(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGGTGCTGCGCACGTGGGT	0.677													14	62					0	0	1	0	0	T	8196578	C	T	8196578	3	4	170	1	0	0	0	0	1	0	0	0	5704	768	27	1	6779	1	FBN3	19	8196578	Missense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	4584430	8196578	50932405	27	2944											
EHD2	30846	broad.mit.edu	37	chr19	48244668	48244668	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaccctccaagcgacgCcacaagggctccgccgagtg	12	17	0	0			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:48244668C>A	uc002phj.4	+	5	1861	c.1611C>A	c.(1609-1611)cgC>cgA	p.R537R	EHD2_uc010xyu.2_Silent_p.R401R	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	537	EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCAAGCGACGCCACAAGGGCT	0.716													9	9					0	0	1	0	0	A	48244668	C	A	48244668	2	1	170	1	0	0	0	0	0	0	0	1	4978	726	26	4		4	EHD2	19	48244668	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	40048090	48244668	10884315	28	2945											
MYBPC2	4606	broad.mit.edu	37	chr19	50957538	50957538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgtcccagaccccccGgaggctgtgcgcatcacctc	11	17	1	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:50957538G>A	uc002psf.2	+	17	1977	c.1926G>A	c.(1924-1926)ccG>ccA	p.P642P		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	642	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGACCCCCCGGAGGCTGTGC	0.647													6	65					0	0	1	0	0	A	50957538	G	A	50957538	2	1	170	1	0	0	0	0	0	0	0	1	10012	1103	39	1		1	MYBPC2	19	50957538	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	2712870	50957538	8171445	29	2946											
SLC12A5	57468	broad.mit.edu	37	chr20	44666024	44666024	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccatcgaaatcctgctGgtaagagaggctgaggagga	15	8	0	2			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr20:44666024G>A	uc010zxl.1	+	6	757	c.681_splice	c.e6+1	p.L227_splice	SLC12A5_uc002xra.2_Splice_Site_p.L204_splice|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Splice_Site_p.L204_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	227					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAATCCTGCTGGTAAGAGAGG	0.582													3	37					0	0	1	0	0	A	44666024	G	A	44666024	5	1	170	1	0	0	0	0	0	0	1	0	14386	1362	47	2	759	2	SLC12A5	20	44666024	Splice_Site	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		44666024	18359496	30	2947											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999781	45999781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcctgcatatggggcgGcagaggagggacacggagga	21	8	0	1			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr21:45999781G>A	uc002zfl.1	-	0	701	c.675C>T	c.(673-675)tgC>tgT	p.C225C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	225	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						ATATGGGGCGGCAGAGGAGGG	0.682													4	165					0	0	1	0	0	A	45999781	G	A	45999781	2	1	170	1	0	0	0	0	0	0	0	1	8512	1195	42	2		2	KRTAP10-5	21	45999781	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		45999781	2130114	31	2948											
BCOR	54880	broad.mit.edu	37	chrX	39923030	39923031	+	Frame_Shift_Ins	INS	-	-	T													tttgccggccaggtttgccaINStctgctgccgacacctgctg							TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chrX:39923030_39923031insT	uc004den.4	-	7	3969_3970	c.3677_3678insA	c.(3676-3678)gatfs	p.D1226fs	BCOR_uc004dep.4_Frame_Shift_Ins_p.D1192fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.D1174fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Ins_p.D1192fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1226					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CAGGTTTGCCATCTGCTGCCGA	0.54			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						59	42	---	---	---	---						T	39923031	-	T	39923030	7	5	170	1	0	1	1	0	0	0	0	0	1386	214	8	0	1621	0	BCOR	23	39923030	Frame_Shift_Ins	INS	-	TCGA-EL-A3D0-01A-12D-A202-08		39923030	115347530	32	2949											
IL7R	3575	broad.mit.edu	37	chr5	35876286	35876286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtagtcatcactccagaaAgctttggaagagattcatcc	8	9	3	2			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr5:35876286A>G	uc003jjs.3	+	7	1167	c.1078A>G	c.(1078-1080)Agc>Ggc	p.S360G	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	360					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CACTCCAGAAAGCTTTGGAAG	0.527			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						28	40					0	0	1	0	0	G	35876286	A	G	35876286	3	3	171	1	0	0	0	0	1	0	0	0	7705	72	3	3	1108	3	IL7R	5	35876286	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08		35876286	145038974	1	2950											
GIGYF1	64599	broad.mit.edu	37	chr7	100280993	100280994	+	Frame_Shift_Del	DEL	GC	GC	-													tcctcctgctgctgctggcgGcgcttctcctctcgacgctt							TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr7:100280993_100280994delGC	uc003uwg.1	-	17	3135_3136	c.2126_2127delGC	c.(2125-2127)cgcfs	p.R709fs		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	709								p.R709H(2)|p.R428H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTGCTGGCGGCGCTTCTCCTC	0.649													83	138	---	---	---	---						-	100280994	GC	-	100280993	7	5	171	1	0	1	0	1	0	0	0	0	6377	1190	42	0	1008	0	GIGYF1	7	100280993	Frame_Shift_Del	DEL	GC	TCGA-EL-A3D1-01A-11D-A19J-08		100280993	58857670	2	2951											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				40	48					0	0	1	0	0	T	140453136	A	T	140453136	3	4	171	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08	40172143	140453136	18685527	3	2952											
ABCA2	20	broad.mit.edu	37	chr9	139914928	139914928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatgttgccccgccgcaGcgcctcgggttcaatggtgc	13	15	2	0			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr9:139914928G>A	uc004ckm.1	-	9	1422	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L	ABCA2_uc022bpy.1_Silent_p.L359L|ABCA2_uc022bpz.1_Silent_p.L429L|ABCA2_uc011mem.1_Silent_p.L428L|ABCA2_uc004ckl.1_Silent_p.L359L|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Silent_p.L205L|ABCA2_uc010nca.3_Silent_p.L359L	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	428					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCCGCCGCAGCGCCTCGGGT	0.682													13	38					0	0	1	0	0	A	139914928	G	A	139914928	2	1	171	1	0	0	0	0	0	0	0	1	32	962	34	2		2	ABCA2	9	139914928	Silent	SNP	G	TCGA-EL-A3D1-01A-11D-A19J-08		139914928	1298503	4	2953											
LYZ	4069	broad.mit.edu	37	chr12	69743921	69743921	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaatgggagagtggttacaAcacacgagctacaaactaca	9	9	0	1			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr12:69743921A>T	uc001suw.2	+	1	225	c.170A>T	c.(169-171)aAc>aTc	p.N57I		NM_000239	NP_000230	P61626	LYSC_HUMAN	Homo sapiens lysozyme (LYZ), mRNA.	57					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AGTGGTTACAACACACGAGCT	0.398													38	50					0	0	1	0	0	T	69743921	A	T	69743921	3	4	171	1	0	0	0	0	1	0	0	0	9130	43	2	5	176	5	LYZ	12	69743921	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08		69743921	64107974	5	2954											
RBM15B	29890	broad.mit.edu	37	chr3	51429678	51429678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgtgcccgtcacgccgCcgcagccttcgccctggatg	12	20	1	0			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr3:51429678C>T	uc003dbd.3	+	0	980	c.848C>T	c.(847-849)gCc>gTc	p.A283V		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	283					RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		cgtcacgccgccgcagccttc	0.746													4	12					0	0	1	0	0	T	51429678	C	T	51429678	3	4	172	1	0	0	0	0	1	0	0	0	13117	739	26	2	850	2	RBM15B	3	51429678	Missense_Mutation	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08		51429678	146592752	1	2955											
OR2B2	81697	broad.mit.edu	37	chr6	27879286	27879286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagagagaaaccatctttCcccggtctttggagctgggt	12	9	2	3			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr6:27879286C>T	uc011dkw.2	-	0	889	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AACCATCTTTCCCCGGTCTTT	0.443													5	84					0	0	1	0	0	T	27879286	C	T	27879286	3	4	172	1	0	0	0	0	1	0	0	0	10989	855	30	2	265	2	OR2B2	6	27879286	Missense_Mutation	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08		27879286	143235781	2	2956											
ERMP1	79956	broad.mit.edu	37	chr9	5812998	5812998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagggtgtttagctgcTgaaacataagcttgaaccaa	10	7	0	2			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:5812998T>C	uc003zjm.1	-	4	966	c.912A>G	c.(910-912)tcA>tcG	p.S304S	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Silent_p.S304S	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	304					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTTTAGCTGCTGAAACATAAG	0.388													37	51					0	0	1	0	0	C	5812998	T	C	5812998	2	2	172	1	0	0	0	0	0	0	0	1	5236	1567	55	3		3	ERMP1	9	5812998	Silent	SNP	T	TCGA-EL-A3D4-01A-11D-A19J-08		5812998	135400433	3	2957											
OR1N1	138883	broad.mit.edu	37	chr9	125288964	125288964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaggggacgatgagtacGgtgcctcccaagacaaaaac	11	9	0	2			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:125288964G>A	uc004bmn.1	-	0	609	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGATGAGTACGGTGCCTCCCA	0.507													7	41					0	0	1	0	0	A	125288964	G	A	125288964	2	1	172	1	0	0	0	0	0	0	0	1	10969	1103	39	1		1	OR1N1	9	125288964	Silent	SNP	G	TCGA-EL-A3D4-01A-11D-A19J-08	119475966	125288964	15924467	4	2958											
SLC25A45	283130	broad.mit.edu	37	chr11	65144052	65144052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgcgtctcagtccatcCatctgcatccgggacttgat	8	14	3	1			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr11:65144052C>T	uc001odr.1	-	6	897	c.693G>A	c.(691-693)atG>atA	p.M231I	SLC25A45_uc009yqi.1_Missense_Mutation_p.M169I|SLC25A45_uc001odq.1_Missense_Mutation_p.M207I|SLC25A45_uc001ods.1_Missense_Mutation_p.M189I|SLC25A45_uc001odt.1_Missense_Mutation_p.M189I	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	231					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TCAGTCCATCCATCTGCATCC	0.617													33	67					0	0	1	0	0	T	65144052	C	T	65144052	3	4	172	1	0	0	0	0	1	0	0	0	14510	594	21	2	177	2	SLC25A45	11	65144052	Missense_Mutation	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08		65144052	69862464	5	2959											
MPDU1	9526	broad.mit.edu	37	chr17	7495766	7495766	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccctgattttcacaggggtGagcatcccattctctcagct	8	14	3	2			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr17:7495766G>A	uc010vuc.1	+	5	753	c.537G>A	c.(535-537)gtG>gtA	p.V179V	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank|FXR2_uc002gia.2_Intron			O75352	MPU1_HUMAN	Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1), transcript variant 1, mRNA.	0	PQ-loop 2.				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						TCACAGGGGTGAGCATCCCAT	0.532													15	108					0	0	1	0	0	A	7495766	G	A	7495766	2	1	172	1	0	0	0	0	0	0	0	1	9721	1305	45	2		2	MPDU1	17	7495766	Silent	SNP	G	TCGA-EL-A3D4-01A-11D-A19J-08		7495766	73699444	6	2960											
CCDC144B	284047	broad.mit.edu	37	chr17	18483593	18483593	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagccagtctacaaCggtatgattccatttctatt	7	11	2	1			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr17:18483593C>T	uc002gua.4	-	11		c.2918G>A								Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CAGTCTACAACGGTATGATTC	0.413													5	40					0	0	1	0	0	T	18483593	C	T	18483593	1	4	172	0	1	0	0	0	0	0	0	0	2778	551	19	1		1	CCDC144B	17	18483593	RNA	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08	10987827	18483593	62711617	7	2961											
ABCB11	8647	broad.mit.edu	37	chr2	169850358	169850358	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatgaaaagggccatttGgtcagctatggcatcattga	11	7	2	3			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr2:169850358G>A	uc002ueo.1	-	7	772	c.646C>T	c.(646-648)Caa>Taa	p.Q216*		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	216	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGGGCCATTTGGTCAGCTATG	0.383													8	16					0	0	1	0	0	A	169850358	G	A	169850358	4	1	173	1	0	0	0	0	0	1	0	0	42	1357	47	2	3403	2	ABCB11	2	169850358	Nonsense_Mutation	SNP	G	TCGA-EL-A3D5-01A-22D-A202-08		169850358	73349015	1	2962											
SEMA3B	7869	broad.mit.edu	37	chr3	50311400	50311400	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgaacgacgtgcgccgggCcttcttgggaccctttgcac	12	14	1	1			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr3:50311400C>G	uc003cyu.3	+	11	1288	c.1046C>G	c.(1045-1047)gCc>gGc	p.A349G	SEMA3B_uc003cyt.3_Missense_Mutation_p.A348G|SEMA3B_uc003cyv.3_Missense_Mutation_p.A237G|SEMA3B_uc003cyw.3_Missense_Mutation_p.A73G|SEMA3B_uc010hli.3_Missense_Mutation_p.A242G|SEMA3B_uc003cyx.3_Missense_Mutation_p.A236G|SEMA3B_uc003cyy.3_Missense_Mutation_p.A7G|SEMA3B_uc011bdo.2_Missense_Mutation_p.A7G	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	350	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGCGCCGGGCCTTCTTGGGA	0.667											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					0	0	1	0	0	G	50311400	C	G	50311400	3	3	173	1	0	0	0	0	1	0	0	0	14025	739	26	4	1086	4	SEMA3B	3	50311400	Missense_Mutation	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		50311400	147711030	2	2963											
NPY1R	4886	broad.mit.edu	37	chr4	164247095	164247095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagacaacctatgagagtcCgatggaaattgatcaaagca	9	7	1	3			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr4:164247095C>T	uc003iqm.2	-	1	1077	c.612G>A	c.(610-612)tcG>tcA	p.S204S	NPY1R_uc021xtv.1_Silent_p.S204S|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	204					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATGAGAGTCCGATGGAAATT	0.383													18	36					0	0	1	0	0	T	164247095	C	T	164247095	2	4	173	1	0	0	0	0	0	0	0	1	10608	639	23	1		1	NPY1R	4	164247095	Silent	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		164247095	26907181	3	2964											
PCDHB6	56130	broad.mit.edu	37	chr5	140531380	140531380	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacggccacctgtttgccctCaggtcgctggactacgaggc	12	14	1	0			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr5:140531380C>T	uc003lir.3	+	0	1542	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTGCCCTCAGGTCGCTGG	0.687													12	239					0	0	1	0	0	T	140531380	C	T	140531380	2	4	173	1	0	0	0	0	0	0	0	1	11546	813	29	2		2	PCDHB6	5	140531380	Silent	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		140531380	40383880	4	2965											
HOXC11	3227	broad.mit.edu	37	chr12	54367562	54367562	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagggcgaggccaagggGgagcccgaggcacccccggc	19	14	0	0			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:54367562G>T	uc001sem.3	+	0	653	c.537G>T	c.(535-537)ggG>ggT	p.G179G		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	179					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGGCCAAGGGGGAGCCCGAGG	0.716			T	NUP98	AML								10	13					0	0	1	0	0	T	54367562	G	T	54367562	2	4	173	1	0	0	0	0	0	0	0	1	7310	1219	43	4		4	HOXC11	12	54367562	Silent	SNP	G	TCGA-EL-A3D5-01A-22D-A202-08		54367562	79484333	5	2966											
NAB2	4665	broad.mit.edu	37	chr12	57488406	57488406	+	Frame_Shift_Del	DEL	G	G	-													tccctgcagagttcgaggaaGggctgctggacagatgtcct							TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:57488406delG	uc001smz.3	+	6	1858	c.1480delG	c.(1480-1482)gggfs	p.G494fs		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	494					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTCGAGGAAGGGCTGCTGGA	0.627													2	4	---	---	---	---						-	57488406	G	-	57488406	7	5	173	1	0	1	0	1	0	0	0	0	10132	1000	35	0	1506	0	NAB2	12	57488406	Frame_Shift_Del	DEL	G	TCGA-EL-A3D5-01A-22D-A202-08	3120844	57488406	76363489	6	2967											
AMDHD1	144193	broad.mit.edu	37	chr12	96359525	96359525	+	Frame_Shift_Del	DEL	G	G	-													taatagttgctctgggaagtGatttcaaccccaatgcatat							TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:96359525delG	uc001tel.2	+	6	1106	c.1000delG	c.(1000-1002)gatfs	p.D334fs	AMDHD1_uc009zth.2_Frame_Shift_Del_p.D225fs	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	334					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCTGGGAAGTGATTTCAACCC	0.353													34	77	---	---	---	---						-	96359525	G	-	96359525	7	5	173	1	0	1	0	1	0	0	0	0	567	1290	45	0	1026	0	AMDHD1	12	96359525	Frame_Shift_Del	DEL	G	TCGA-EL-A3D5-01A-22D-A202-08	38871119	96359525	37492370	7	2968											
DICER1	23405	broad.mit.edu	37	chr14	95557629	95557629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcaccagcaagcgacTcaaaaatatcccccatggcc	7	14	1	0			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr14:95557629T>C	uc001ydw.2	-	25	5650	c.5438A>G	c.(5437-5439)gAg>gGg	p.E1813G	DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1813	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1813G(2)|p.E1813A(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAAGCGACTCAAAAATATC	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				117	223					0	0	1	0	0	C	95557629	T	C	95557629	3	2	173	1	0	0	0	0	1	0	0	0	4521	1551	54	3	342	3	DICER1	14	95557629	Missense_Mutation	SNP	T	TCGA-EL-A3D5-01A-22D-A202-08		95557629	11791911	8	2969											
RPAP1	26015	broad.mit.edu	37	chr15	41819130	41819130	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcctcccagctgaggccAggacacgaagtagtttcatg	10	11	1	1			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr15:41819130A>C	uc001zod.3	-	13	2007	c.1883T>G	c.(1882-1884)cTg>cGg	p.L628R		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	628						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCTGAGGCCAGGACACGAAG	0.572													7	258					0	0	1	0	0	C	41819130	A	C	41819130	3	2	173	1	0	0	0	0	1	0	0	0	13541	188	7	5	2346	5	RPAP1	15	41819130	Missense_Mutation	SNP	A	TCGA-EL-A3D5-01A-22D-A202-08		41819130	60712262	9	2970											
SF3B3	23450	broad.mit.edu	37	chr16	70599364	70599364	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaaacccccgatctgtggcAgggggcttcgtctatactta	10	12	2	0			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr16:70599364A>T	uc002ezf.3	+	19	2974	c.2763A>T	c.(2761-2763)gcA>gcT	p.A921A		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	921					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GATCTGTGGCAGGGGGCTTCG	0.488													6	139					0	0	1	0	0	T	70599364	A	T	70599364	2	4	173	1	0	0	0	0	0	0	0	1	14152	175	7	5		5	SF3B3	16	70599364	Silent	SNP	A	TCGA-EL-A3D5-01A-22D-A202-08		70599364	19755389	10	2971											
TP53	7157	broad.mit.edu	37	chr17	7573998	7573999	+	Frame_Shift_Del	DEL	CT	CT	-													agttccaaggcctcattcagCtctcggaacatctcgaagcg							TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr17:7573998_7573999delCT	uc002gim.2	-	9	1222_1223	c.1028_1029delAG	c.(1027-1029)gagfs	p.E343fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.E211fs|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.E343fs|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	343	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> G (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(62)|p.R342fs*3(9)|p.0?(8)|p.E343*(6)|p.R342P(3)|p.L344fs*23(2)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.E343fs*3(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTCATTCAGCTCTCGGAACAT	0.569		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)			26	15	---	---	---	---						-	7573999	CT	-	7573998	7	5	173	1	0	1	0	1	0	0	0	0	16378	796	28	0	160	0	TP53	17	7573998	Frame_Shift_Del	DEL	CT	TCGA-EL-A3D5-01A-22D-A202-08		7573998	73621212	11	2972											
NCAN	1463	broad.mit.edu	37	chr19	19359691	19359691	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaattgtctgcaccaaaCgtaagtagcttctcccagag	7	13	2	1	rs148844959	byFrequency	TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr19:19359691C>T	uc002nlz.3	+	14	3919	c.3820_splice	c.e14+1	p.P1274_splice	NCAN_uc002nma.3_Splice_Site_p.N29_splice	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1274					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGCACCAAACGTAAGTAGCT	0.463													23	27					0	0	1	0	0	T	19359691	C	T	19359691	5	4	173	1	0	0	0	0	0	0	1	0	10204	550	19	1	3870	1	NCAN	19	19359691	Splice_Site	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		19359691	39769292	12	2973											
TSPYL2	64061	broad.mit.edu	37	chrX	53114505	53114505	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaaatgaagaaacggTaatgggagtttggtcgctga	14	4	0	4			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chrX:53114505T>A	uc004drw.3	+	5	1377	c.1238_splice	c.e5+2	p.R413_splice	TSPYL2_uc004drv.3_3'UTR|TSPYL2_uc004drx.1_5'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	413					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GAAGAAACGGTAATGGGAGTT	0.443													22	43					0	0	1	0	0	A	53114505	T	A	53114505	5	1	173	1	0	0	0	0	0	0	1	0	16657	1652	57	5	1258	5	TSPYL2	23	53114505	Splice_Site	SNP	T	TCGA-EL-A3D5-01A-22D-A202-08		53114505	102156055	13	2974											
SLC4A7	9497	broad.mit.edu	37	chr3	27444776	27444776	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatcgagtaatataacaCacaaggctgcttgcatctgt	8	8	1	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:27444776C>G	uc011aww.2	-	14	2396	c.2175G>C	c.(2173-2175)gtG>gtC	p.V725V	SLC4A7_uc011awx.2_Silent_p.V712V|SLC4A7_uc021wun.1_Silent_p.V601V|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Silent_p.V708V|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Silent_p.V597V|SLC4A7_uc011axb.2_Silent_p.V712V|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Silent_p.V597V|SLC4A7_uc010hfl.3_Silent_p.V266V|SLC4A7_uc003cdv.3_Silent_p.V716V|SLC4A7_uc003cdw.3_Silent_p.V592V	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	716						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TAATATAACACACAAGGCTGC	0.378													6	145					0	0	1	0	0	G	27444776	C	G	27444776	2	3	174	1	0	0	0	0	0	0	0	1	14658	465	17	4		4	SLC4A7	3	27444776	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		27444776	170577654	1	2975											
NAALADL2	254827	broad.mit.edu	37	chr3	175455163	175455163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgcacttgatatagctTtagaagttcaaaacaacctt	5	7	1	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:175455163T>C	uc003fit.3	+	11	2053	c.1966T>C	c.(1966-1968)Tta>Cta	p.L656L		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	656					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATATAGCTTTAGAAGTTCA	0.313													3	64					0	0	1	0	0	C	175455163	T	C	175455163	2	2	174	1	0	0	0	0	0	0	0	1	10130	1838	64	3		3	NAALADL2	3	175455163	Silent	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	148010387	175455163	22567267	2	2976											
GABRA6	2559	broad.mit.edu	37	chr5	161128522	161128522	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcatcctgactccaaatatCatctgaagaaaaggatcact	6	10	3	3			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr5:161128522C>T	uc003lyu.2	+	8	1443	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y	GABRA6_uc003lyv.2_Missense_Mutation_p.H140Y	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	369					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.H369Y(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCCAAATATCATCTGAAGAA	0.378										TCGA Ovarian(5;0.080)			8	155					0	0	1	0	0	T	161128522	C	T	161128522	3	4	174	1	0	0	0	0	1	0	0	0	6165	826	29	2	1139	2	GABRA6	5	161128522	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		161128522	19786738	3	2977											
BAI3	577	broad.mit.edu	37	chr6	69758224	69758224	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcactccggtgtcatcaaAaggtaaatatctgaaataat	6	7	4	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr6:69758224A>T	uc010kak.3	+	12	2531	c.2255A>T	c.(2254-2256)aAa>aTa	p.K752I	BAI3_uc003pev.4_Missense_Mutation_p.K752I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	752					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTCATCAAAAGGTAAATAT	0.328													5	47					0	0	1	0	0	T	69758224	A	T	69758224	3	4	174	1	0	0	0	0	1	0	0	0	1300	14	1	5	2301	5	BAI3	6	69758224	Missense_Mutation	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08		69758224	101356843	4	2978											
STK31	56164	broad.mit.edu	37	chr7	23871854	23871854	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aatgtttcttgatgccaaagGagcaatcagttccaaaccca	7	10	2	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:23871854G>C	uc003sws.4	+	23	2996	c.2929G>C	c.(2929-2931)Gag>Cag	p.E977Q	STK31_uc003swt.4_Missense_Mutation_p.E954Q|STK31_uc011jze.2_Missense_Mutation_p.E954Q|STK31_uc010kuq.3_Missense_Mutation_p.E954Q|STK31_uc003swv.1_Missense_Mutation_p.E143Q	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	977	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GATGCCAAAGGAGCAATCAGT	0.358													3	95					0	0	1	0	0	C	23871854	G	C	23871854	3	2	174	1	0	0	0	0	1	0	0	0	15295	1175	41	4	3023	4	STK31	7	23871854	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		23871854	135266809	5	2979											
ZAN	7455	broad.mit.edu	37	chr7	100352918	100352918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaagagccccaggcctaGctgtgggcccctctgtcggg	15	14	1	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:100352918G>T	uc003uwj.3	+	14	3359	c.3194G>T	c.(3193-3195)aGc>aTc	p.S1065I	ZAN_uc003uwk.3_Missense_Mutation_p.S1065I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1065	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCAGGCCTAGCTGTGGGCCC	0.562													73	186					0	0	1	0	0	T	100352918	G	T	100352918	3	4	174	1	0	0	0	0	1	0	0	0	17510	971	34	4	3248	4	ZAN	7	100352918	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	76481064	100352918	58785745	6	2980											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	87					0	0	1	0	0	T	140453136	A	T	140453136	3	4	174	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08	40100218	140453136	18685527	7	2981											
FAM110B	90362	broad.mit.edu	37	chr8	59058923	59058923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaggccgagcccaaccCcaagaggctcagcgccgtgg	14	16	1	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:59058923C>T	uc003xtj.1	+	4	1014	c.134C>T	c.(133-135)cCc>cTc	p.P45L	FAM110B_uc022auu.1_Missense_Mutation_p.P45L	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	45						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGCCCAACCCCAAGAGGCTC	0.667													9	42					0	0	1	0	0	T	59058923	C	T	59058923	3	4	174	1	0	0	0	0	1	0	0	0	5397	623	22	2	136	2	FAM110B	8	59058923	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		59058923	87305099	8	2982											
CA13	377677	broad.mit.edu	37	chr8	86193478	86193478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggccaaatttcgcagtcTcctgtgcacagcggagggtg	14	11	1	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:86193478T>G	uc003ydg.2	+	6	1031	c.689T>G	c.(688-690)cTc>cGc	p.L230R	CA13_uc003ydf.1_Intron	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	230					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						TTTCGCAGTCTCCTGTGCACA	0.458													30	244					0	0	1	0	0	G	86193478	T	G	86193478	3	3	174	1	0	0	0	0	1	0	0	0	2514	1551	54	5	715	5	CA13	8	86193478	Missense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	27134555	86193478	60170544	9	2983											
IARS	3376	broad.mit.edu	37	chr9	95027811	95027811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgacagttcttcaagttCcgccactgacccaatgcata	6	14	2	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:95027811C>T	uc004art.1	-	14	1713	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	IARS_uc004ars.1_Missense_Mutation_p.E331K|IARS_uc004aru.3_Missense_Mutation_p.E486K|IARS_uc010mqr.2_Missense_Mutation_p.E376K|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	486					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCTTCAAGTTCCGCCACTGAC	0.413													7	213					0	0	1	0	0	T	95027811	C	T	95027811	3	4	174	1	0	0	0	0	1	0	0	0	7473	864	30	2	2412	2	IARS	9	95027811	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		95027811	46185620	10	2984											
NCBP1	4686	broad.mit.edu	37	chr9	100409798	100409798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaaaagactcatgtaccCatgttacaggtatggactgc	9	11	1	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:100409798C>T	uc004axq.3	+	6	1095	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	212	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CTCATGTACCCATGTTACAGG	0.368													3	77					0	0	1	0	0	T	100409798	C	T	100409798	2	4	174	1	0	0	0	0	0	0	0	1	10211	581	21	2		2	NCBP1	9	100409798	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	5381987	100409798	40803633	11	2985											
OR13F1	138805	broad.mit.edu	37	chr9	107267381	107267381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggctttggtgtatgccGgacaaacccccatgttgaat	10	9	0	1	rs142994537		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:107267381G>A	uc011lvm.2	+	0	838	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGTATGCCGGACAAACCCC	0.428													10	83					0	0	1	0	0	A	107267381	G	A	107267381	3	1	174	1	0	0	0	0	1	0	0	0	10941	1117	39	1	840	1	OR13F1	9	107267381	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	6857583	107267381	33946050	12	2986											
SVEP1	79987	broad.mit.edu	37	chr9	113208159	113208159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtattgtcgctgccgttaTcaactgcataggagattggt	12	7	1	1			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:113208159T>C	uc010mtz.3	-	25	4758	c.4421A>G	c.(4420-4422)gAt>gGt	p.D1474G	SVEP1_uc010mua.1_Missense_Mutation_p.D1474G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1474	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTGCCGTTATCAACTGCATA	0.453													6	141					0	0	1	0	0	C	113208159	T	C	113208159	3	2	174	1	0	0	0	0	1	0	0	0	15417	1435	50	3	6386	3	SVEP1	9	113208159	Missense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	5940778	113208159	28005272	13	2987											
JMJD1C	221037	broad.mit.edu	37	chr10	64973913	64973913	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctatcttatttgccaatcTtctttcaccagtagcttggc	5	11	5	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:64973913T>A	uc001jmn.3	-	7	2314	c.2014A>T	c.(2014-2016)Aga>Tga	p.R672*	JMJD1C_uc001jml.3_Nonsense_Mutation_p.R453*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.R384*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.R490*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.R490*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Nonsense_Mutation_p.R384*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	672					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTGCCAATCTTCTTTCACCA	0.388													21	95					0	0	1	0	0	A	64973913	T	A	64973913	4	1	174	1	0	0	0	0	0	1	0	0	7950	1617	56	5	5684	5	JMJD1C	10	64973913	Nonsense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08		64973913	70560834	14	2988											
GLRX3	10539	broad.mit.edu	37	chr10	131943568	131943568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagctaaagaactccctcaAgtttcatttgtgaaggtatt	7	7	2	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:131943568A>G	uc001lkm.2	+	1	232	c.186A>G	c.(184-186)caA>caG	p.Q62Q	GLRX3_uc001lkn.2_Silent_p.Q62Q|GLRX3_uc001lko.3_Non-coding_Transcript	NM_006541	NP_006532	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 2, mRNA.	62	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AACTCCCTCAAGTTTCATTTG	0.428													3	57					0	0	1	0	0	G	131943568	A	G	131943568	2	3	174	1	0	0	0	0	0	0	0	1	6461	69	3	3		3	GLRX3	10	131943568	Silent	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08	66969655	131943568	3591179	15	2989											
TSPAN32	10077	broad.mit.edu	37	chr11	2334910	2334910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccatgctggacacctaCgacctggtatatgagcaggc	12	12	0	1	rs147630481	by1000genomes	TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:2334910C>T	uc001lvy.1	+	4	518	c.381C>T	c.(379-381)taC>taT	p.Y127Y	TSPAN32_uc001lvx.1_Silent_p.Y186Y|TSPAN32_uc009ydk.1_Silent_p.Y137Y|TSPAN32_uc010qxk.2_Silent_p.Y162Y|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.Y97Y|TSPAN32_uc001lwb.1_Silent_p.Y97Y|TSPAN32_uc001lwc.1_Silent_p.Y72Y|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	127					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGGACACCTACGACCTGGTAT	0.672													8	14					0	0	1	0	0	T	2334910	C	T	2334910	2	4	174	1	0	0	0	0	0	0	0	1	16644	547	19	1		1	TSPAN32	11	2334910	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		2334910	132671606	16	2990											
AHNAK	79026	broad.mit.edu	37	chr11	62284755	62284755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaacttgggcattttgaTcttggactttttcagtttga	8	5	2	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:62284755T>C	uc001ntl.3	-	4	17434	c.17134A>G	c.(17134-17136)Atc>Gtc	p.I5712V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5712					nervous system development	nucleus	protein binding	p.I5712T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCATTTTGATCTTGGACTTT	0.483													3	149					0	0	1	0	0	C	62284755	T	C	62284755	3	2	174	1	0	0	0	0	1	0	0	0	414	1435	50	3	658	3	AHNAK	11	62284755	Missense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	59949845	62284755	72721761	17	2991											
COL4A1	1282	broad.mit.edu	37	chr13	110844602	110844602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctgccaggcaaacctctgtCgcccttggcccctggctgcc	10	18	2	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr13:110844602C>A	uc001vqw.4	-	23	1617	c.1495G>T	c.(1495-1497)Gac>Tac	p.D499Y		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	499	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAACCTCTGTCGCCCTTGGCC	0.498													9	74					0	0	1	0	0	A	110844602	C	A	110844602	3	1	174	1	0	0	0	0	1	0	0	0	3689	884	31	4	3630	4	COL4A1	13	110844602	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		110844602	4325276	18	2992											
CTAGE5	4253	broad.mit.edu	37	chr14	39777757	39777757	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaaacttaaagtaatgactGaattatatcaagaaaatgaa	6	3	1	5			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:39777757G>A	uc001wvi.4	+	12	1510	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	CTAGE5_uc010tqe.1_Missense_Mutation_p.E349K|CTAGE5_uc001wuy.4_Missense_Mutation_p.E307K|CTAGE5_uc001wuz.4_Missense_Mutation_p.E375K|CTAGE5_uc001wva.4_Missense_Mutation_p.E358K|CTAGE5_uc001wvb.4_Missense_Mutation_p.E358K|CTAGE5_uc001wvc.4_Missense_Mutation_p.E332K|CTAGE5_uc001wve.1_Missense_Mutation_p.E363K|CTAGE5_uc001wvf.4_Missense_Mutation_p.E312K|CTAGE5_uc001wvg.4_Missense_Mutation_p.E387K|CTAGE5_uc001wvh.4_Missense_Mutation_p.E387K|CTAGE5_uc010amz.3_Missense_Mutation_p.E3K|CTAGE5_uc001wvj.4_Missense_Mutation_p.E358K	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	387							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGTAATGACTGAATTATATCA	0.284													5	100					0	0	1	0	0	A	39777757	G	A	39777757	3	1	174	1	0	0	0	0	1	0	0	0	3994	1291	45	2	1240	2	CTAGE5	14	39777757	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		39777757	67571783	19	2993											
SLC8A3	6547	broad.mit.edu	37	chr14	70522512	70522512	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggacaagacacctcttaCctggagataacaggagcgct	13	10	1	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:70522512C>T	uc001xly.3	-	4	2660	c.1906_splice	c.e4+1	p.D636_splice	SLC8A3_uc001xlv.3_Intron|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Splice_Site_p.D636_splice|SLC8A3_uc001xlx.3_Splice_Site_p.D637_splice|SLC8A3_uc001xlz.3_Intron|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	636					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACCTCTTACCTGGAGATAA	0.403													15	16					0	0	1	0	0	T	70522512	C	T	70522512	5	4	174	1	0	0	0	0	0	0	1	0	14708	521	18	2	896	2	SLC8A3	14	70522512	Splice_Site	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	30744755	70522512	36827028	20	2994											
SERPINA1	5265	broad.mit.edu	37	chr14	94847272	94847272	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcattttccaggtgctGtagtttcccctcatcaggca	9	11	3	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:94847272G>A	uc001ycx.4	-	2	1114	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycy.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010auy.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001ycz.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010auz.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc010ava.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001ydb.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010avb.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001ydc.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010auw.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc010aux.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001yda.1_Nonsense_Mutation_p.Q285*	NM_000295	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 1, mRNA.	285					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TCCAGGTGCTGTAGTTTCCCC	0.507													12	135					0	0	1	0	0	A	94847272	G	A	94847272	4	1	174	1	0	0	0	0	0	1	0	0	14086	1386	48	2	415	2	SERPINA1	14	94847272	Nonsense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	24324760	94847272	12502268	21	2995											
SPATA8	145946	broad.mit.edu	37	chr15	97328316	97328316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaagataaacaggagaaGtgtcctgtttcacccatatt	8	8	2	3			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr15:97328316G>A	uc002bue.3	+	2	494	c.287G>A	c.(286-288)aGt>aAt	p.S96N	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	96										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			AACAGGAGAAGTGTCCTGTTT	0.473													56	68					0	0	1	0	0	A	97328316	G	A	97328316	3	1	174	1	0	0	0	0	1	0	0	0	15014	1029	36	2	297	2	SPATA8	15	97328316	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		97328316	5203076	22	2996											
LONP2	83752	broad.mit.edu	37	chr16	48311247	48311247	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctacttgctttctctAggcgcacctatgttggcagc	10	11	1	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48311247A>T	uc002efi.1	+	8	1331	c.1242_splice	c.e8-2	p.R414_splice	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Splice_Site|LONP2_uc002efj.1_Splice_Site_p.R370_splice	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	414					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGCTTTCTCTAGGCGCACCTA	0.463													4	85					0	0	1	0	0	T	48311247	A	T	48311247	5	4	174	1	0	0	0	0	0	0	1	0	8893	434	15	5	1270	5	LONP2	16	48311247	Splice_Site	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08		48311247	42043506	23	2997											
LONP2	83752	broad.mit.edu	37	chr16	48381506	48381506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgttcgtggaggcgagtcGaatggatggcgagggccagt	18	7	0	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48381506G>A	uc002efi.1	+	12	2116	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.R632Q	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	676					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGCGAGTCGAATGGATGGC	0.557													4	100					0	0	1	0	0	A	48381506	G	A	48381506	3	1	174	1	0	0	0	0	1	0	0	0	8893	1058	37	1	2077	1	LONP2	16	48381506	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	70259	48381506	41973247	24	2998											
TP53	7157	broad.mit.edu	37	chr17	7572986	7572986	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttatggcgggaggtagactGaccctttttggacttcaggt	13	7	1	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:7572986G>A	uc002gim.2	-	10	1317	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.Q243*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.Q375*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	375	Basic (repression of DNA-binding).|Interaction with CARM1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q375*(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGTAGACTGACCCTTTTTG	0.527		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)			6	142					0	0	1	0	0	A	7572986	G	A	7572986	4	1	174	1	0	0	0	0	0	1	0	0	16378	1299	45	2	62	2	TP53	17	7572986	Nonsense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		7572986	73622224	25	2999											
EVPL	2125	broad.mit.edu	37	chr17	74015142	74015142	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccagccgtttttcctctgcCtgccgggggcccaggcagtg	14	15	1	0			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:74015142C>G	uc010wss.1	-	11	1366	c.1138_splice	c.e11-1	p.A380_splice	EVPL_uc002jqi.2_Splice_Site_p.A380_splice|EVPL_uc010wst.1_Splice_Site	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	380	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTTCCTCTGCCTGCCGGGGGC	0.657													12	23					0	0	1	0	0	G	74015142	C	G	74015142	5	3	174	1	0	0	0	0	0	0	1	0	5292	695	24	4	5012	4	EVPL	17	74015142	Splice_Site	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	66442156	74015142	7180068	26	3000											
C19orf57	79173	broad.mit.edu	37	chr19	14015679	14015679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgaatgaacgtacctgaGgtccgcagcttcttcctctt	8	11	2	3			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr19:14015679G>A	uc002mxl.1	-	1	86	c.27C>T	c.(25-27)acC>acT	p.T9T	CC2D1A_uc002mxn.2_5'Flank|CC2D1A_uc002mxo.2_5'Flank|CC2D1A_uc002mxp.2_5'Flank	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	9					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACGTACCTGAGGTCCGCAGCT	0.413													4	129					0	0	1	0	0	A	14015679	G	A	14015679	2	1	174	1	0	0	0	0	0	0	0	1	1939	987	35	2		2	C19orf57	19	14015679	Silent	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		14015679	45113304	27	3001											
PROKR2	128674	broad.mit.edu	37	chr20	5283032	5283032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaggaccgtcttcctgCggcagcgcagccgcttgcga	13	16	1	0	rs146544539		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:5283032C>T	uc010zqw.2	-	1	817	c.809G>A	c.(808-810)cGc>cAc	p.R270H	PROKR2_uc010zqx.2_Missense_Mutation_p.R270H|PROKR2_uc010zqy.2_Missense_Mutation_p.R270H	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	270						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGTCTTCCTGCGGCAGCGCAG	0.597										HNSCC(71;0.22)			9	57					0	0	1	0	0	T	5283032	C	T	5283032	3	4	174	1	0	0	0	0	1	0	0	0	12553	768	27	1	348	1	PROKR2	20	5283032	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		5283032	57742488	28	3002											
CDH26	60437	broad.mit.edu	37	chr20	58558037	58558037	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggatacatccttgattttCaacattaggatcagtgatgt	9	6	2	2			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:58558037C>T	uc002ybe.3	+	4	764	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	151	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTTGATTTTCAACATTAGGA	0.413													9	199					0	0	1	0	0	T	58558037	C	T	58558037	2	4	174	1	0	0	0	0	0	0	0	1	3110	825	29	2		2	CDH26	20	58558037	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	53275005	58558037	4467483	29	3003											
TMPRSS15	5651	broad.mit.edu	37	chr21	19770245	19770245	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcttcagattgcttgAtagaaagatctcatctatct	5	8	6	4			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr21:19770245A>T	uc002ykw.3	-	2	326	c.295T>A	c.(295-297)Tca>Aca	p.S99T		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	99	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGATTGCTTGATAGAAAGATC	0.244													3	9					0	0	1	0	0	T	19770245	A	T	19770245	3	4	174	1	0	0	0	0	1	0	0	0	16243	333	12	5	2856	5	TMPRSS15	21	19770245	Missense_Mutation	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08		19770245	28359650	30	3004											
HDAC8	55869	broad.mit.edu	37	chrX	71681859	71681859	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagagccttacttacctcatGatctgggatctcagaggata	9	10	3	3			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chrX:71681859G>A	uc004eau.3	-	8	1342	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	HDAC8_uc011mqe.2_Missense_Mutation_p.H191Y|HDAC8_uc011mqg.2_Missense_Mutation_p.H243Y|HDAC8_uc011mqf.2_Non-coding_Transcript	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	334					chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTTACCTCATGATCTGGGATC	0.483													28	62					0	0	1	0	0	A	71681859	G	A	71681859	3	1	174	1	0	0	0	0	1	0	0	0	7013	1290	45	2	145	2	HDAC8	23	71681859	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		71681859	83588701	31	3005											
CSMD2	114784	broad.mit.edu	37	chr1	34011735	34011735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcacagctgaagcgcAtcacagtgcctggatcaaag	10	12	3	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:34011735A>G	uc001bxm.1	-	56	9179	c.9002T>C	c.(9001-9003)aTg>aCg	p.M3001T	CSMD2_uc001bxn.1_Missense_Mutation_p.M2857T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2974	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTGAAGCGCATCACAGTGCC	0.617													34	24					0	0	1	0	0	G	34011735	A	G	34011735	3	3	175	1	0	0	0	0	1	0	0	0	3945	217	8	3	1949	3	CSMD2	1	34011735	Missense_Mutation	SNP	A	TCGA-EL-A3GO-01A-11D-A202-08		34011735	215238886	1	3006											
CCDC24	149473	broad.mit.edu	37	chr1	44457888	44457888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctctccttgcaggtggCgatgttacgggcactgctcc	12	14	1	0			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:44457888C>T	uc001clj.3	+	2	302	c.131C>T	c.(130-132)gCg>gTg	p.A44V	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Intron	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	44										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTGCAGGTGGCGATGTTACGG	0.642													12	120					0	0	1	0	0	T	44457888	C	T	44457888	3	4	175	1	0	0	0	0	1	0	0	0	2799	768	27	1	137	1	CCDC24	1	44457888	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08	10446153	44457888	204792733	2	3007											
DNAH1	25981	broad.mit.edu	37	chr3	52433173	52433173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcactctgcagaattttgccCgcaaatttgtcatctccatt	6	12	3	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:52433173C>A	uc011bef.2	+	75	12658	c.12397C>A	c.(12397-12399)Cgc>Agc	p.R4133S	DNAH1_uc003ddv.3_Missense_Mutation_p.R991S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	4198					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4197S(1)|p.R4133S(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAATTTTGCCCGCAAATTTGT	0.537													5	444					0	0	1	0	0	A	52433173	C	A	52433173	3	1	175	1	0	0	0	0	1	0	0	0	4597	652	23	4	12695	4	DNAH1	3	52433173	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		52433173	145589257	3	3008											
SHQ1	55164	broad.mit.edu	37	chr3	72897455	72897455	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gatggcgatagtcaggaagtCcggatcctggctgaggtcga	16	8	1	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:72897455C>G	uc003dpf.3	-	0	144	c.37G>C	c.(37-39)Gac>Cac	p.D13H	SHQ1_uc010hod.3_5'UTR	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	13	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.P12S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GTCAGGAAGTCCGGATCCTGG	0.657													3	120					0	0	1	0	0	G	72897455	C	G	72897455	3	3	175	1	0	0	0	0	1	0	0	0	14292	855	30	4	1740	4	SHQ1	3	72897455	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08	20464282	72897455	125124975	4	3009											
SLITRK3	22865	broad.mit.edu	37	chr3	164906194	164906194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttttccagcaaggtccGgtagttactatggttctcct	8	11	2	0			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:164906194G>A	uc003fej.4	-	1	2869	c.2425C>T	c.(2425-2427)Cgg>Tgg	p.R809W	SLITRK3_uc003fek.3_Missense_Mutation_p.R809W|SLITRK3_uc021xgy.1_Missense_Mutation_p.R809W	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	809						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGCAAGGTCCGGTAGTTACTA	0.557										HNSCC(40;0.11)			4	117					0	0	1	0	0	A	164906194	G	A	164906194	3	1	175	1	0	0	0	0	1	0	0	0	14744	1115	39	1	512	1	SLITRK3	3	164906194	Missense_Mutation	SNP	G	TCGA-EL-A3GO-01A-11D-A202-08	92008739	164906194	33116236	5	3010											
TECPR1	25851	broad.mit.edu	37	chr7	97858474	97858474	+	Frame_Shift_Del	DEL	A	A	-													gtggcctcccatctgccgccAaaacctggaaggatgggaga							TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:97858474delA	uc003upg.3	-	15	2492	c.2287delT	c.(2287-2289)tggfs	p.W763fs	TECPR1_uc003uph.1_Frame_Shift_Del_p.W693fs	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	763						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCTGCCGCCAAAACCTGGAA	0.642													2	4	---	---	---	---						-	97858474	A	-	97858474	7	5	175	1	0	1	0	1	0	0	0	0	15740	130	5	0	1254	0	TECPR1	7	97858474	Frame_Shift_Del	DEL	A	TCGA-EL-A3GO-01A-11D-A202-08		97858474	61280189	6	3011											
BRAF	673	broad.mit.edu	37	chr7	140481431	140481431	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagatccaattctttgtccCactgtaatctgcccatcagg	6	14	3	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:140481431C>G	uc003vwc.4	-	10	1438	c.1377G>C	c.(1375-1377)gtG>gtC	p.V459V		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	459	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V459L(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTCTTTGTCCCACTGTAATCT	0.403		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				3	122					0	0	1	0	0	G	140481431	C	G	140481431	2	3	175	1	0	0	0	0	0	0	0	1	1496	581	21	4		4	BRAF	7	140481431	Silent	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08	42622957	140481431	18657232	7	3012											
OR51F1	256892	broad.mit.edu	37	chr11	4790251	4790251	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcatagccttgcggatttgTtttgtttttacactgtcgat	9	7	0	0			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:4790251T>A	uc010qyl.2	-	0	897	c.897A>T	c.(895-897)aaA>aaT	p.K299N		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	299						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCGGATTTGTTTTGTTTTTA	0.438													37	50					0	0	1	0	0	A	4790251	T	A	4790251	3	1	175	1	0	0	0	0	1	0	0	0	11096	1722	60	5	44	5	OR51F1	11	4790251	Missense_Mutation	SNP	T	TCGA-EL-A3GO-01A-11D-A202-08		4790251	130216265	8	3013											
SBF2	81846	broad.mit.edu	37	chr11	9812167	9812167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgtgcattctgtcaAtacattcccaaatacagact	4	12	3	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:9812167A>C	uc001mib.2	-	33	4772	c.4634T>G	c.(4633-4635)aTt>aGt	p.I1545S	LOC283104_uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.I189S|SBF2_uc001mic.2_5'Flank|BC073899_uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1545	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CATTCTGTCAATACATTCCCA	0.294													3	155					0	0	1	0	0	C	9812167	A	C	9812167	3	2	175	1	0	0	0	0	1	0	0	0	13859	101	4	5	943	5	SBF2	11	9812167	Missense_Mutation	SNP	A	TCGA-EL-A3GO-01A-11D-A202-08	5021916	9812167	125194349	9	3014											
DYNC2H1	79659	broad.mit.edu	37	chr11	103029464	103029464	+	Frame_Shift_Del	DEL	G	G	-													caacattaactactcatgctGgaataagaaattctctacta							TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:103029464delG	uc001phn.1	+	26	4330	c.4186delG	c.(4186-4188)ggafs	p.G1396fs	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.G1396fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	1396	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TACTCATGCTGGAATAAGAAA	0.269													2	4	---	---	---	---						-	103029464	G	-	103029464	7	5	175	1	0	1	0	1	0	0	0	0	4846	1349	47	0	4292	0	DYNC2H1	11	103029464	Frame_Shift_Del	DEL	G	TCGA-EL-A3GO-01A-11D-A202-08	93217297	103029464	31977052	10	3015											
DICER1	23405	broad.mit.edu	37	chr14	95557639	95557639	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agcaagcgactcaaaaatatCccccatggcctttggaactt	7	12	1	0			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr14:95557639C>G	uc001ydw.2	-	25	5640	c.5428G>C	c.(5428-5430)Gat>Cat	p.D1810H	DICER1_uc010avh.1_Missense_Mutation_p.D708H|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.D1800H|DICER1_uc001ydx.2_Missense_Mutation_p.D1810H	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1810	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D1810A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCAAAAATATCCCCCATGGCC	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				92	167					0	0	1	0	0	G	95557639	C	G	95557639	3	3	175	1	0	0	0	0	1	0	0	0	4521	855	30	4	352	4	DICER1	14	95557639	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		95557639	11791901	11	3016											
STAC2	342667	broad.mit.edu	37	chr17	37371255	37371255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgctgccttccccatcctCggtcagctcatcccgctcac	7	19	3	0			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:37371255C>T	uc002hrs.3	-	5	1006	c.721G>A	c.(721-723)Gag>Aag	p.E241K	STAC2_uc010cvt.3_Missense_Mutation_p.E99K	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	241					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCCCCATCCTCGGTCAGCTCA	0.632													87	154					0	0	1	0	0	T	37371255	C	T	37371255	3	4	175	1	0	0	0	0	1	0	0	0	15239	893	31	1	538	1	STAC2	17	37371255	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		37371255	43823955	12	3017											
HEATR6	63897	broad.mit.edu	37	chr17	58143675	58143675	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtagccataaagaacTtttttttctatcgattttat	5	7	1	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:58143675T>A	uc002iyk.1	-	8	1328	c.1311A>T	c.(1309-1311)aaA>aaT	p.K437N	HEATR6_uc010ddk.1_5'UTR|HEATR6_uc010wos.1_Missense_Mutation_p.K269N	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	437							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CATAAAGAACTTTTTTTTCTA	0.383													16	40					0	0	1	0	0	A	58143675	T	A	58143675	3	1	175	1	0	0	0	0	1	0	0	0	7033	1606	56	5	2282	5	HEATR6	17	58143675	Missense_Mutation	SNP	T	TCGA-EL-A3GO-01A-11D-A202-08	20772420	58143675	23051535	13	3018											
ARHGEF6	9459	broad.mit.edu	37	chrX	135767911	135767911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttaatatcttctccttcCcatgcctgaataggttcgga	6	10	2	1			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chrX:135767911C>A	uc004fab.3	-	11	1779	c.1317G>T	c.(1315-1317)tgG>tgT	p.W439C	ARHGEF6_uc011mwd.2_Missense_Mutation_p.W312C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.W285C	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	439					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCCTTCCCATGCCTGAA	0.393													13	121					0	0	1	0	0	A	135767911	C	A	135767911	3	1	175	1	0	0	0	0	1	0	0	0	910	624	22	4	1057	4	ARHGEF6	23	135767911	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		135767911	19502649	14	3019											
FAAH	2166	broad.mit.edu	37	chr1	46877297	46877298	+	Frame_Shift_Del	DEL	CT	CT	-													tgcccagttcggctggaaaaCtctgggaactgcagcacgag							TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:46877297_46877298delCT	uc001cpu.2	+	11	1412_1413	c.1330_1331delCT	c.(1330-1332)ctcfs	p.L444fs	FAAH_uc001cpv.2_Intron	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	444					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGCTGGAAAACTCTGGGAACTG	0.594													16	33	---	---	---	---						-	46877298	CT	-	46877297	7	5	176	1	0	1	0	1	0	0	0	0	5353	565	20	0	1376	0	FAAH	1	46877297	Frame_Shift_Del	DEL	CT	TCGA-EL-A3GP-01A-11D-A202-08		46877297	202373324	1	3020											
OR2T27	403239	broad.mit.edu	37	chr1	248813367	248813367	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtagaaggcagatacAgctttgtcctgctcaggggt	14	7	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:248813367A>T	uc010pzo.2	-	0	819	c.819T>A	c.(817-819)gcT>gcA	p.A273A		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGATACAGCTTTGTCCT	0.522													38	33					0	0	1	0	0	T	248813367	A	T	248813367	2	4	176	1	0	0	0	0	0	0	0	1	11021	175	7	5		5	OR2T27	1	248813367	Silent	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	201936070	248813367	437254	2	3021											
NLRC4	58484	broad.mit.edu	37	chr2	32477651	32477651	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgtttacttcttcgcgattCagaacattccatacaaatag	5	9	2	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:32477651C>G	uc002roi.3	-	2	360	c.99G>C	c.(97-99)ctG>ctC	p.L33L	NLRC4_uc021vfq.1_Silent_p.L33L|NLRC4_uc002roj.2_Silent_p.L33L|NLRC4_uc010ezt.2_Silent_p.L33L	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	33	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTTCGCGATTCAGAACATTCC	0.403													3	166					0	0	1	0	0	G	32477651	C	G	32477651	2	3	176	1	0	0	0	0	0	0	0	1	10469	813	29	4		4	NLRC4	2	32477651	Silent	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08		32477651	210721722	3	3022											
STAT1	6772	broad.mit.edu	37	chr2	191862642	191862642	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caatacaggcgctctgctgtCtccgcttccactccactagt	7	16	2	0			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:191862642C>G	uc010fse.2	-	7	1157	c.725G>C	c.(724-726)aGa>aCa	p.R242T	STAT1_uc021vue.1_Missense_Mutation_p.R54T|STAT1_uc002usj.2_Missense_Mutation_p.R242T|STAT1_uc002usk.2_Missense_Mutation_p.R242T|STAT1_uc002usl.2_Missense_Mutation_p.R244T|STAT1_uc010fsf.1_Missense_Mutation_p.R54T	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	242					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity	p.R241W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCTCTGCTGTCTCCGCTTCCA	0.483													3	64					0	0	1	0	0	G	191862642	C	G	191862642	3	3	176	1	0	0	0	0	1	0	0	0	15263	913	32	4	1599	4	STAT1	2	191862642	Missense_Mutation	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08	159384991	191862642	51336731	4	3023											
UBP1	7342	broad.mit.edu	37	chr3	33451063	33451063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcacctccgtgcttccGtggagtaaattctgtgctga	9	11	2	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:33451063G>A	uc003cfq.4	-	5	1116	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	UBP1_uc003cfr.4_Missense_Mutation_p.R196W|UBP1_uc010hga.3_Missense_Mutation_p.R196W	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	196					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CCGTGCTTCCGTGGAGTAAAT	0.418													22	86					0	0	1	0	0	A	33451063	G	A	33451063	3	1	176	1	0	0	0	0	1	0	0	0	16892	1144	40	1	1080	1	UBP1	3	33451063	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		33451063	164571367	5	3024											
DOCK3	1795	broad.mit.edu	37	chr3	51399384	51399384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggtgatgctgggtgacGgctccatgggtgatgctcct	15	9	0	3			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:51399384G>A	uc011bds.2	+	47	5124	c.5101G>A	c.(5101-5103)Ggc>Agc	p.G1701S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1701						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTGGGTGACGGCTCCATGGG	0.567													6	13					0	0	1	0	0	A	51399384	G	A	51399384	3	1	176	1	0	0	0	0	1	0	0	0	4688	1116	39	1	5291	1	DOCK3	3	51399384	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	17948321	51399384	146623046	6	3025											
CCDC54	84692	broad.mit.edu	37	chr3	107097052	107097052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttatccaaagtccactgaCcatcttgagaaaaaaacaat	5	9	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:107097052C>T	uc003dwi.1	+	0	865	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	206										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGTCCACTGACCATCTTGAGA	0.393													34	81					0	0	1	0	0	T	107097052	C	T	107097052	2	4	176	1	0	0	0	0	0	0	0	1	2824	506	18	2		2	CCDC54	3	107097052	Silent	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08	55697668	107097052	90925378	7	3026											
ALDH1L1	10840	broad.mit.edu	37	chr3	125850235	125850235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccccacctggatctTgtcacaccagccagcaaagt	9	16	2	0			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:125850235T>C	uc003eim.1	-	12	1805	c.1615A>G	c.(1615-1617)Aag>Gag	p.K539E	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.K438E|ALDH1L1_uc003eio.3_Missense_Mutation_p.K241E	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	539	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACCTGGATCTTGTCACACCAG	0.607													86	224					0	0	1	0	0	C	125850235	T	C	125850235	3	2	176	1	0	0	0	0	1	0	0	0	494	1821	63	3	1137	3	ALDH1L1	3	125850235	Missense_Mutation	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08	18753183	125850235	72172195	8	3027											
AGGF1	55109	broad.mit.edu	37	chr5	76331518	76331518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaccctggtaccgatagaAcagaaaatgttaaatataga	7	7	0	3			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:76331518A>G	uc003ket.3	+	2	848	c.466A>G	c.(466-468)Aca>Gca	p.T156A	AGGF1_uc003kes.3_Missense_Mutation_p.T156A|AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	156					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TACCGATAGAACAGAAAATGT	0.353													18	70					0	0	1	0	0	G	76331518	A	G	76331518	3	3	176	1	0	0	0	0	1	0	0	0	382	43	2	3	476	3	AGGF1	5	76331518	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08		76331518	104583742	9	3028											
PCDHAC2	56134	broad.mit.edu	37	chr5	140181378	140181378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactcgtgttgaaaaaaaAtttaaatcgagaggacactc	9	6	0	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:140181378A>G	uc003lhf.2	+	0	596	c.596A>G	c.(595-597)aAt>aGt	p.N199S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.N199S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	214	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAAAAAAAATTTAAATCGA	0.368													3	107					0	0	1	0	0	G	140181378	A	G	140181378	3	3	176	1	0	0	0	0	1	0	0	0	11533	101	4	3		3	PCDHAC2	5	140181378	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	63849860	140181378	40733882	10	3029											
SYNE1	23345	broad.mit.edu	37	chr6	152765610	152765611	+	Missense_Mutation	DNP	TG	TG	CT													tatccaagatcttctcagctTgttcctggacttctttagag							TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr6:152765610_152765611TG>CT	uc021zhb.1	-	27	3995_3996	c.3772_3773CA>AG	c.(3772-3774)caa>AGa	p.Q1258R	SYNE1_uc003qot.4_Missense_Mutation_p.Q1265R|SYNE1_uc003qou.4_Missense_Mutation_p.Q1258R|SYNE1_uc010kjb.1_Missense_Mutation_p.Q1241R|SYNE1_uc003qow.3_Missense_Mutation_p.Q553R|SYNE1_uc003qox.1_Missense_Mutation_p.Q774R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1258					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTCAGCTTGTTCCTGGACT	0.366										HNSCC(10;0.0054)			29	86					0	0	1	0	0	CT	152765611	TG	CT	152765610	3	2	176	1	0	0	0	0	1	0	0	0	15442	1812	63	3	23161	3	SYNE1	6	152765610	Missense_Mutation	DNP	TG	TCGA-EL-A3GP-01A-11D-A202-08		152765610	18349457	11	3030											
SPDYE5	442590	broad.mit.edu	37	chr7	75124522	75124522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtcccttggctggaaaAggaagagggagtggtcagat	17	5	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:75124522A>G	uc011kfy.2	+	0	224	c.88A>G	c.(88-90)Agg>Ggg	p.R30G		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	30																	TGGCTGGAAAAGGAAGAGGGA	0.577													3	57					0	0	1	0	0	G	75124522	A	G	75124522	3	3	176	1	0	0	0	0	1	0	0	0	15031	63	3	3	90	3	SPDYE5	7	75124522	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08		75124522	84014141	12	3031											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	74					0	0	1	0	0	T	140453136	A	T	140453136	3	4	176	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	65328614	140453136	18685527	13	3032											
ZNF746	155061	broad.mit.edu	37	chr7	149171562	149171562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggccaaaggtcctttGgaggcggggctcttgaaggg	19	7	1	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:149171562G>A	uc010lpi.2	-	6	2122	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	ZNF746_uc003wfw.2_Silent_p.S616S	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	616					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGGTCCTTTGGAGGCGGGGC	0.687													13	15					0	0	1	0	0	A	149171562	G	A	149171562	2	1	176	1	0	0	0	0	0	0	0	1	18126	1335	47	2		2	ZNF746	7	149171562	Silent	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	8718426	149171562	9967101	14	3033											
PCDH15	65217	broad.mit.edu	37	chr10	55782771	55782771	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaccttgatggccaaggttaGagttgaatgacgagggtgta	14	5	0	4			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr10:55782771G>C	uc010qhy.1	-	19	2817	c.2422C>G	c.(2422-2424)Cta>Gta	p.L808V	PCDH15_uc010qhq.2_Missense_Mutation_p.L808V|PCDH15_uc010qhr.2_Missense_Mutation_p.L803V|PCDH15_uc021pqv.1_Missense_Mutation_p.L803V|PCDH15_uc021pqw.1_Missense_Mutation_p.L815V|PCDH15_uc010qht.2_Missense_Mutation_p.L810V|PCDH15_uc021pqx.1_Missense_Mutation_p.L803V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.L803V|PCDH15_uc021pqz.1_Missense_Mutation_p.L781V|PCDH15_uc010qhv.1_Missense_Mutation_p.L803V|PCDH15_uc010qhw.1_Missense_Mutation_p.L766V|PCDH15_uc010qhx.1_Missense_Mutation_p.L732V|PCDH15_uc010qhz.1_Missense_Mutation_p.L803V|PCDH15_uc010qia.1_Missense_Mutation_p.L781V|PCDH15_uc001jju.1_Missense_Mutation_p.L803V|PCDH15_uc010qib.1_Missense_Mutation_p.L781V|PCDH15_uc001jjw.3_Missense_Mutation_p.L803V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	803	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.L808I(1)|p.L803I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCAAGGTTAGAGTTGAATGA	0.443										HNSCC(58;0.16)			28	88					0	0	1	0	0	C	55782771	G	C	55782771	3	2	176	1	0	0	0	0	1	0	0	0	11511	933	33	4	5139	4	PCDH15	10	55782771	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		55782771	79751976	15	3034											
ACACB	32	broad.mit.edu	37	chr12	109650693	109650693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcagcggaaggctgatcGagaggtcttcttcatcaaca	11	11	4	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:109650693G>A	uc001tob.3	+	21	3421	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	ACACB_uc001toc.3_Missense_Mutation_p.R1101Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1101					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AAGGCTGATCGAGAGGTCTTC	0.542													50	121					0	0	1	0	0	A	109650693	G	A	109650693	3	1	176	1	0	0	0	0	1	0	0	0	107	1058	37	1	3384	1	ACACB	12	109650693	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		109650693	24201202	16	3035											
NOS1	4842	broad.mit.edu	37	chr12	117725989	117725989	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagaaggatgcatgatGgagcccatgcagatgtactc	13	8	0	3			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:117725989G>T	uc001twn.2	-	4	1728	c.1017C>A	c.(1015-1017)tcC>tcA	p.S339S	NOS1_uc021ren.1_Silent_p.S3S|NOS1_uc021reo.1_Silent_p.S3S|NOS1_uc001twm.2_Silent_p.S339S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	339					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GATGCATGATGGAGCCCATGC	0.483													25	50					0	0	1	0	0	T	117725989	G	T	117725989	2	4	176	1	0	0	0	0	0	0	0	1	10541	1335	47	4		4	NOS1	12	117725989	Silent	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	8075296	117725989	16125906	17	3036											
FAM48A	55578	broad.mit.edu	37	chr13	37583813	37583813	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtaatgcaagactcaaAattttggagtggttggcgtg	12	4	1	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr13:37583813A>C	uc001uwg.3	-	25	2584	c.2336T>G	c.(2335-2337)tTt>tGt	p.F779C	FAM48A_uc010abt.3_3'UTR|FAM48A_uc001uwh.3_3'UTR|FAM48A_uc001uwi.3_3'UTR|FAM48A_uc001uwj.3_3'UTR|FAM48A_uc001uwk.3_3'UTR|FAM48A_uc001uwd.3_3'UTR|FAM48A_uc001uwe.3_Missense_Mutation_p.F263C|FAM48A_uc001uwf.3_Missense_Mutation_p.F345C	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 1, mRNA.	779					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CAAGACTCAAAATTTTGGAGT	0.378													58	111					0	0	1	0	0	C	37583813	A	C	37583813	3	2	176	1	0	0	0	0	1	0	0	0	5572	14	1	5	7	5	FAM48A	13	37583813	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08		37583813	77586065	18	3037											
USP6	9098	broad.mit.edu	37	chr17	5076150	5076150	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctacattcttttctaTgagcagcaggggatagacta	9	9	3	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:5076150T>A	uc002gau.1	+	37	6328	c.4098T>A	c.(4096-4098)taT>taA	p.Y1366*	USP6_uc002gav.1_Nonsense_Mutation_p.Y1366*|USP6_uc010ckz.1_Nonsense_Mutation_p.Y1049*	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1366					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTCTTTTCTATGAGCAGCAGG	0.428			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								44	115					0	0	1	0	0	A	5076150	T	A	5076150	4	1	176	1	0	0	0	0	0	1	0	0	17083	1471	51	5	4212	5	USP6	17	5076150	Nonsense_Mutation	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08		5076150	76119060	19	3038											
WSCD1	23302	broad.mit.edu	37	chr17	6014123	6014123	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacaggaggttcctgcctAacaaatccaaagtgtttgtg	10	9	0	1			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:6014123A>C	uc010cli.3	+	6	1421	c.1042A>C	c.(1042-1044)Aac>Cac	p.N348H	WSCD1_uc002gcn.3_Missense_Mutation_p.N348H|WSCD1_uc002gco.3_Missense_Mutation_p.N348H|WSCD1_uc010clj.3_Missense_Mutation_p.N39H	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	348						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTTCCTGCCTAACAAATCCAA	0.493													7	327					0	0	1	0	0	C	6014123	A	C	6014123	3	2	176	1	0	0	0	0	1	0	0	0	17403	362	13	5	1064	5	WSCD1	17	6014123	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	937973	6014123	75181087	20	3039											
ASXL1	171023	broad.mit.edu	37	chr20	31022741	31022741	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagttggactcacagatggGctaggagatgcctcccaact	11	11	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:31022741G>C	uc021wbw.1	+	12	2658	c.2226G>C	c.(2224-2226)ggG>ggC	p.G742G	ASXL1_uc002wxs.3_Silent_p.G741G|ASXL1_uc010geb.3_Silent_p.G633G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	742					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.D741V(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCACAGATGGGCTAGGAGATG	0.577			"F, N, Mis"		"MDS, CMML"								16	25					0	0	1	0	0	C	31022741	G	C	31022741	2	2	176	1	0	0	0	0	0	0	0	1	1066	1190	42	4		4	ASXL1	20	31022741	Silent	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		31022741	32002779	21	3040											
KIAA1755	85449	broad.mit.edu	37	chr20	36869357	36869357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggcagctggctcttgTgagacacctgccctgagacc	13	12	1	2			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:36869357T>C	uc002xhy.1	-	2	1448	c.1176A>G	c.(1174-1176)tcA>tcG	p.S392S	KIAA1755_uc002xhz.1_Silent_p.S392S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	392										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGGCTCTTGTGAGACACCTG	0.587													71	158					0	0	1	0	0	C	36869357	T	C	36869357	2	2	176	1	0	0	0	0	0	0	0	1	8257	1683	59	3		3	KIAA1755	20	36869357	Silent	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08	5846616	36869357	26156163	22	3041											
CYTH4	27128	broad.mit.edu	37	chr22	37688673	37688673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtagagcccgcggagCtgagcagcggggagacggaa	17	10	1	3			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr22:37688673C>A	uc003arf.3	+	1	147	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	CYTH4_uc003ard.4_Missense_Mutation_p.L11M|CYTH4_uc003are.2_Missense_Mutation_p.L11M|CYTH4_uc011amw.2_5'UTR	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	11					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCCCGCGGAGCTGAGCAGCGG	0.612													36	46					0	0	1	0	0	A	37688673	C	A	37688673	3	1	176	1	0	0	0	0	1	0	0	0	4206	796	28	4	37	4	CYTH4	22	37688673	Missense_Mutation	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08		37688673	13615893	23	3042											
CENPF	1063	broad.mit.edu	37	chr1	214794133	214794133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaattctcaaagaactccaAttaggagagatttctctgca	6	9	2	2			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr1:214794133A>G	uc001hkm.3	+	5	883	c.709A>G	c.(709-711)Att>Gtt	p.I237V		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	237	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAACTCCAATTAGGAGAGA	0.438													4	169					0	0	1	0	0	G	214794133	A	G	214794133	3	3	177	1	0	0	0	0	1	0	0	0	3231	101	4	3	727	3	CENPF	1	214794133	Missense_Mutation	SNP	A	TCGA-EL-A3GQ-01A-11D-A202-08		214794133	34456488	1	3043											
SEC22C	9117	broad.mit.edu	37	chr3	42597460	42597460	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaggaacaagaaaagccaGaatgtttccaatttcctcat	7	8	1	2			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr3:42597460G>A	uc003clj.3	-	5	883	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	SEC22C_uc003clh.3_Silent_p.L225L|SEC22C_uc010hic.3_Intron|SEC22C_uc011azo.2_Silent_p.L155L|SEC22C_uc003cli.3_Silent_p.L225L	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.	225					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGAAAAGCCAGAATGTTTCCA	0.383													22	28					0	0	1	0	0	A	42597460	G	A	42597460	2	1	177	1	0	0	0	0	0	0	0	1	13990	933	33	2		2	SEC22C	3	42597460	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		42597460	155424970	2	3044											
CRIPAK	285464	broad.mit.edu	37	chr4	1389234	1389234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgtggagtgcccgcctGctcacgtgcccatatggagt	13	14	1	0	rs71299249		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr4:1389234G>A	uc003gdf.2	+	0	3895	c.935G>A	c.(934-936)tGc>tAc	p.C312Y		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	312					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.P310fs*95(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACGTGCC	0.667													8	428					0	0	1	0	0	A	1389234	G	A	1389234	3	1	177	1	0	0	0	0	1	0	0	0	3877	1319	46	2	937	2	CRIPAK	4	1389234	Missense_Mutation	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		1389234	189765042	3	3045											
SENP6	26054	broad.mit.edu	37	chr6	76385768	76385768	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaaggagtaaataaattaaCaagtaagttgtgtaaaacag	8	2	0	0			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr6:76385768C>G	uc003pid.4	+	12	2238	c.1619C>G	c.(1618-1620)aCa>aGa	p.T540R	SENP6_uc003pie.4_Missense_Mutation_p.T533R|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.T533R|SENP6_uc003pif.1_Missense_Mutation_p.T431R	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	540					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAATTAACAAGTAAGTTG	0.303													9	26					0	0	1	0	0	G	76385768	C	G	76385768	3	3	177	1	0	0	0	0	1	0	0	0	14050	478	17	4	1669	4	SENP6	6	76385768	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		76385768	94729299	4	3046											
LAMB1	3912	broad.mit.edu	37	chr7	107594163	107594163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaacttctgatggattgCcaaagtatcctgaggcacag	9	12	1	2			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr7:107594163C>T	uc003vev.2	-	19	3124	c.2963G>A	c.(2962-2964)gGc>gAc	p.G988D	LAMB1_uc003vew.2_Missense_Mutation_p.G964D	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	964	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATGGATTGCCAAAGTATCC	0.502													8	119					0	0	1	0	0	T	107594163	C	T	107594163	3	4	177	1	0	0	0	0	1	0	0	0	8610	739	26	2	2521	2	LAMB1	7	107594163	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		107594163	51544500	5	3047											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	68					0	0	1	0	0	T	140453136	A	T	140453136	3	4	177	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GQ-01A-11D-A202-08	32858973	140453136	18685527	6	3048											
DNAJC1	64215	broad.mit.edu	37	chr10	22048118	22048118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctcttggacgggacaCatctggctattttgtcccag	10	12	2	0			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:22048118C>T	uc001irc.3	-	10	1864	c.1577G>A	c.(1576-1578)tGt>tAt	p.C526Y		NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	526	SANT 2.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGACGGGACACATCTGGCTAT	0.547													85	137					0	0	1	0	0	T	22048118	C	T	22048118	3	4	177	1	0	0	0	0	1	0	0	0	4628	478	17	2	95	2	DNAJC1	10	22048118	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		22048118	113486629	7	3049											
ADAM8	101	broad.mit.edu	37	chr10	135084771	135084771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggcaggtggtagagTtgcagcagcggttccggcag	17	10	0	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:135084771T>C	uc021qbe.1	-	12	1393	c.1307A>G	c.(1306-1308)aAc>aGc	p.N436S	ADAM8_uc009ybi.3_Missense_Mutation_p.N436S|ADAM8_uc010qva.2_Missense_Mutation_p.N397S	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	397					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GGTGGTAGAGTTGCAGCAGCG	0.706													12	18					0	0	1	0	0	C	135084771	T	C	135084771	3	2	177	1	0	0	0	0	1	0	0	0	252	1725	60	3	1129	3	ADAM8	10	135084771	Missense_Mutation	SNP	T	TCGA-EL-A3GQ-01A-11D-A202-08	113036653	135084771	449976	8	3050											
SERPINH1	871	broad.mit.edu	37	chr11	75277986	75277986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggagcgcacggacggcGccctgctagtcaacgccatg	14	14	1	0			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr11:75277986G>A	uc001owr.3	+	1	890	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	SERPINH1_uc009yuf.3_Missense_Mutation_p.A198T|SERPINH1_uc009yug.3_Missense_Mutation_p.A198T|SERPINH1_uc001ows.3_Missense_Mutation_p.A198T|SERPINH1_uc001owt.3_5'Flank	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	198					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CACGGACGGCGCCCTGCTAGT	0.657													29	45					0	0	1	0	0	A	75277986	G	A	75277986	3	1	177	1	0	0	0	0	1	0	0	0	14117	1087	38	1	594	1	SERPINH1	11	75277986	Missense_Mutation	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		75277986	59728530	9	3051											
CCDC88C	440193	broad.mit.edu	37	chr14	91770293	91770293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcgcggtgagcgctgcGctctgggaactcagcgtgga	16	11	2	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr14:91770293G>A	uc010aty.3	-	19	3541	c.3387C>T	c.(3385-3387)agC>agT	p.S1129S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1129					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association	p.S1129S(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGAGCGCTGCGCTCTGGGAAC	0.657													40	56					0	0	1	0	0	A	91770293	G	A	91770293	2	1	177	1	0	0	0	0	0	0	0	1	2865	1078	38	1		1	CCDC88C	14	91770293	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		91770293	15579247	10	3052											
GRIN2A	2903	broad.mit.edu	37	chr16	9923438	9923438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaggattctggacaggcaCggagttattgaacaccaggc	12	8	1	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr16:9923438C>A	uc002czo.4	-	8	2397	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L	GRIN2A_uc010uym.2_Missense_Mutation_p.V617L|GRIN2A_uc010uyn.2_Missense_Mutation_p.V460L|GRIN2A_uc002czr.4_Missense_Mutation_p.V617L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 1, mRNA.	617					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGACAGGCACGGAGTTATTG	0.488													32	59					0	0	1	0	0	A	9923438	C	A	9923438	3	1	177	1	0	0	0	0	1	0	0	0	6779	536	19	4	2565	4	GRIN2A	16	9923438	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		9923438	80431315	11	3053											
VTN	7448	broad.mit.edu	37	chr17	26696674	26696674	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcaggcttagaggcgCccacctcaggcgcaggggcc	13	17	2	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:26696674C>G	uc002hbc.3	-	2	532	c.383G>C	c.(382-384)gGc>gCc	p.G128A	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	128					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CTTAGAGGCGCCCACCTCAGG	0.627													21	34					0	0	1	0	0	G	26696674	C	G	26696674	3	3	177	1	0	0	0	0	1	0	0	0	17234	739	26	4	1077	4	VTN	17	26696674	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		26696674	54498536	12	3054											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39388991	39388991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgctgtagcacacccTgctgccagcccacatgctgt	8	17	0	0			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:39388991T>G	uc021txg.1	+	0	277	c.238T>G	c.(238-240)Tgc>Ggc	p.C80G		NM_031962	NP_114168	Q9BYQ3	KRA93_HUMAN	Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA.	80	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TAGCACACCCTGCTGCCAGCC	0.587													46	61					0	0	1	0	0	G	39388991	T	G	39388991	3	3	177	1	0	0	0	0	1	0	0	0	8574	1580	55	5	240	5	KRTAP9-3	17	39388991	Missense_Mutation	SNP	T	TCGA-EL-A3GQ-01A-11D-A202-08	12692317	39388991	41806219	13	3055											
RNFT1	51136	broad.mit.edu	37	chr17	58034708	58034708	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaaaagttcggtagtaTtgacacaattcttctaaaag	8	6	2	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:58034708T>C	uc002iya.3	-	5	975	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RNFT1_uc002iyb.3_Non-coding_Transcript|RNFT1_uc002iyc.3_Silent_p.Q32Q	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Homo sapiens ring finger protein, transmembrane 1 (RNFT1), mRNA.	294						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TTCGGTAGTATTGACACAATT	0.368													37	42					0	0	1	0	0	C	58034708	T	C	58034708	2	2	177	1	0	0	0	0	0	0	0	1	13501	1490	52	3		3	RNFT1	17	58034708	Silent	SNP	T	TCGA-EL-A3GQ-01A-11D-A202-08	18645717	58034708	23160502	14	3056											
SLC5A5	6528	broad.mit.edu	37	chr19	18001785	18001785	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccaaggaagaagtggCcatcctggatgacaacttgg	13	11	0	2			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:18001785C>G	uc002nhr.4	+	13	2089	c.1742C>G	c.(1741-1743)gCc>gGc	p.A581G		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	581					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAAGAAGTGGCCATCCTGGAT	0.612													52	84					0	0	1	0	0	G	18001785	C	G	18001785	3	3	177	1	0	0	0	0	1	0	0	0	14668	739	26	4	1796	4	SLC5A5	19	18001785	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		18001785	41127198	15	3057											
MICAL3	57553	broad.mit.edu	37	chr22	18314678	18314679	+	In_Frame_Ins	INS	-	-	TCC													cctcctcctcttcatattctINStcctcctcctcctcctcctc							TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr22:18314678_18314679insTCC	uc002zng.4	-	20	3349_3350	c.2996_2997insGGA	c.(2995-2997)gaa>gaGGAa	p.999_999E>EE	MICAL3_uc011agl.2_In_Frame_Ins_p.999_999E>EE	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	999	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		cttcatattcttcctcctcctc	0.55													6	2	---	---	---	---						TCC	18314679	-	TCC	18314678	7	5	177	1	0	1	1	0	0	0	0	0	9571	1606	56	0	3059	0	MICAL3	22	18314678	In_Frame_Ins	INS	-	TCGA-EL-A3GQ-01A-11D-A202-08		18314678	32989888	16	3058											
GPR174	84636	broad.mit.edu	37	chrX	78426795	78426795	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcatgttctgtttctacctGaagtatgtcaacatgtatgc	8	8	3	1			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chrX:78426795G>A	uc004edg.1	+	0	327	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	97						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTTTCTACCTGAAGTATGTCA	0.448										HNSCC(63;0.18)			48	71					0	0	1	0	0	A	78426795	G	A	78426795	2	1	177	1	0	0	0	0	0	0	0	1	6672	1277	45	2		2	GPR174	23	78426795	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		78426795	76843765	17	3059											
SPTA1	6708	broad.mit.edu	37	chr1	158582606	158582606	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagcaaccagaatcggaCctgcttcatgtcttctttgg	11	10	3	1			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr1:158582606C>T	uc001fst.1	-	51	7333	c.7134_splice	c.e51+1	p.Q2378_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2378	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGAATCGGACCTGCTTCATG	0.458													5	100					0	0	1	0	0	T	158582606	C	T	158582606	5	4	178	1	0	0	0	0	0	0	1	0	15115	521	18	2	132	2	SPTA1	1	158582606	Splice_Site	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		158582606	90668015	1	3060											
STAG1	10274	broad.mit.edu	37	chr3	136162169	136162169	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcttctaatagcaactctgtCatacattcccagtctttcaa	3	12	6	0			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr3:136162169C>G	uc003era.1	-	14	1798	c.1506G>C	c.(1504-1506)atG>atC	p.M502I	STAG1_uc003erb.1_Missense_Mutation_p.M502I|STAG1_uc003erc.1_Missense_Mutation_p.M276I|STAG1_uc010hua.1_Missense_Mutation_p.M365I	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	502					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GCAACTCTGTCATACATTCCC	0.358													7	95					0	0	1	0	0	G	136162169	C	G	136162169	3	3	178	1	0	0	0	0	1	0	0	0	15241	826	29	4	2350	4	STAG1	3	136162169	Missense_Mutation	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		136162169	61860261	2	3061											
THPO	7066	broad.mit.edu	37	chr3	184093689	184093689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccagtctgctgtgaAggacatgggagtcacgaagc	12	10	3	1			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr3:184093689A>C	uc003fol.1	-	2	343	c.128T>G	c.(127-129)cTt>cGt	p.L43R	THPO_uc003fom.2_Missense_Mutation_p.L43R|THPO_uc021xii.1_Missense_Mutation_p.L43R|THPO_uc003fon.3_Missense_Mutation_p.L43R|THPO_uc011bro.2_Missense_Mutation_p.L43R|THPO_uc003fop.3_Missense_Mutation_p.L43R|THPO_uc011brp.2_Missense_Mutation_p.L43R|THPO_uc011brq.2_Missense_Mutation_p.L43R|THPO_uc003for.1_5'Flank|THPO_uc003fos.1_5'Flank|THPO_uc003fot.1_Missense_Mutation_p.L43R|THPO_uc003fou.1_Missense_Mutation_p.L43R	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	43					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCTGTGAAGGACATGGGA	0.527													36	91					0	0	1	0	0	C	184093689	A	C	184093689	3	2	178	1	0	0	0	0	1	0	0	0	15869	72	3	5	949	5	THPO	3	184093689	Missense_Mutation	SNP	A	TCGA-EL-A3GR-01A-21D-A202-08	47931520	184093689	13928741	3	3062											
CLCN3	1182	broad.mit.edu	37	chr4	170641066	170641066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcctttcaggcgcctccTtggcattataacaaaaaaag	6	10	1	0			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr4:170641066T>C	uc003isi.3	+	12	2934	c.2375T>C	c.(2374-2376)cTt>cCt	p.L792P	CLCN3_uc003ish.3_Silent_p.P817P|CLCN3_uc011cka.2_Missense_Mutation_p.L765P|CLCN3_uc011cjz.2_Missense_Mutation_p.L775P|CLCN3_uc003isj.2_Missense_Mutation_p.L765P	NM_001829	NP_001820	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant b, mRNA.	792	CBS 2.				endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGGCGCCTCCTTGGCATTATA	0.398													5	59					0	0	1	0	0	C	170641066	T	C	170641066	3	2	178	1	0	0	0	0	1	0	0	0	3464	1609	56	3	2501	3	CLCN3	4	170641066	Missense_Mutation	SNP	T	TCGA-EL-A3GR-01A-21D-A202-08		170641066	20513210	4	3063											
NUDT12	83594	broad.mit.edu	37	chr5	102895751	102895751	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctaaaatgtttaccctttctCaagcagaaattggactatct	5	9	2	1			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr5:102895751C>G	uc003koi.3	-	1	292	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	NUDT12_uc011cvb.2_Intron|NUDT12_uc010jbq.1_Missense_Mutation_p.E67Q	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	67						nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TACCCTTTCTCAAGCAGAAAT	0.363													45	94					0	0	1	0	0	G	102895751	C	G	102895751	3	3	178	1	0	0	0	0	1	0	0	0	10728	835	29	4	1213	4	NUDT12	5	102895751	Missense_Mutation	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		102895751	78019509	5	3064											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	84					0	0	1	0	0	T	140453136	A	T	140453136	3	4	178	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GR-01A-21D-A202-08		140453136	18685527	6	3065											
ARC	23237	broad.mit.edu	37	chr8	143695032	143695032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctgggctgcccgtcctCgccggggacccacggctggt	18	15	0	0			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr8:143695032C>T	uc003ywn.1	-	0	802	c.601G>A	c.(601-603)Gag>Aag	p.E201K	ARC_uc022bca.1_Missense_Mutation_p.E201K	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	201	Required for binding DNM2 (By similarity).				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCCCGTCCTCGCCGGGGACC	0.726													14	21					0	0	1	0	0	T	143695032	C	T	143695032	3	4	178	1	0	0	0	0	1	0	0	0	841	893	31	1	593	1	ARC	8	143695032	Missense_Mutation	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		143695032	2668990	7	3066											
AASDHPPT	60496	broad.mit.edu	37	chr11	105961348	105961348	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaccaacaaagaatgggaAacaatcagaagctttaagga	8	6	1	2			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr11:105961348A>G	uc001pjc.1	+	2	620	c.474A>G	c.(472-474)gaA>gaG	p.E158E	AASDHPPT_uc010rvn.1_Intron|AASDHPPT_uc001pjd.1_Silent_p.E11E	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.	158					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	p.W157L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AAGAATGGGAAACAATCAGAA	0.303													3	116					0	0	1	0	0	G	105961348	A	G	105961348	2	3	178	1	0	0	0	0	0	0	0	1	23	11	1	3		3	AASDHPPT	11	105961348	Silent	SNP	A	TCGA-EL-A3GR-01A-21D-A202-08		105961348	29045168	8	3067											
C14orf135	64430	broad.mit.edu	37	chr14	60581721	60581721	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aatgttcatcatgtctgctgGaacagctatagcatcatatt	7	8	4	0			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr14:60581721G>C	uc001xer.4	+	2	719	c.197G>C	c.(196-198)gGa>gCa	p.G66A	C14orf135_uc001xeq.2_Missense_Mutation_p.G66A	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	300						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ATGTCTGCTGGAACAGCTATA	0.308													11	33					0	0	1	0	0	C	60581721	G	C	60581721	3	2	178	1	0	0	0	0	1	0	0	0	1745	1174	41	4	203	4	C14orf135	14	60581721	Missense_Mutation	SNP	G	TCGA-EL-A3GR-01A-21D-A202-08		60581721	46767819	9	3068											
MT1E	4493	broad.mit.edu	37	chr16	56660717	56660717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgggttctgagctcgaGccaggcttgctattagggca	15	9	2	1			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr16:56660717G>A	uc002ejm.3	+	1	547	c.368G>A	c.(367-369)aGc>aAc	p.S123N	MT1A_uc002eji.3_Intron|MT1M_uc010vhe.2_Intron|MT1E_uc002ejl.3_Intron			P04732	MT1E_HUMAN	Homo sapiens metallothionein 1E (MT1E), mRNA.	30						cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										CTGAGCTCGAGCCAGGCTTGC	0.582													4	72					0	0	1	0	0	A	56660717	G	A	56660717	3	1	178	1	0	0	0	0	1	0	0	0	9899	986	34	2		2	MT1E	16	56660717	Missense_Mutation	SNP	G	TCGA-EL-A3GR-01A-21D-A202-08		56660717	33694036	10	3069											
DHX8	1659	broad.mit.edu	37	chr17	41577392	41577392	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccaaagaaaggcgggaactCaaacaggcccagcgggaagc	14	11	1	1			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr17:41577392C>G	uc002idu.1	+	10	1539	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	DHX8_uc010wif.1_Silent_p.L398L|DHX8_uc010wig.2_Silent_p.L489L	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	489						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCGGGAACTCAAACAGGCCC	0.532													116	194					0	0	1	0	0	G	41577392	C	G	41577392	2	3	178	1	0	0	0	0	0	0	0	1	4515	813	29	4		4	DHX8	17	41577392	Silent	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		41577392	39617818	11	3070											
ATP7A	538	broad.mit.edu	37	chrX	77302017	77302020	+	Frame_Shift_Del	DEL	CACT	CACT	-													ttaccagtgaacctgacaagCactcactcctggtgggagac							TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chrX:77302017_77302020delCACT	uc004ecx.4	+	22	4613_4616	c.4453_4456delCACT	c.(4453-4458)cactcafs	p.H1485fs		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1485					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ACCTGACAAGCACTCACTCCTGGT	0.451													123	272	---	---	---	---						-	77302020	CACT	-	77302017	7	5	178	1	0	1	0	1	0	0	0	0	1190	710	25	0	4539	0	ATP7A	23	77302017	Frame_Shift_Del	DEL	CACT	TCGA-EL-A3GR-01A-21D-A202-08		77302017	77968543	12	3071											
PRPS1	5631	broad.mit.edu	37	chrX	106885605	106885605	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctttctacagggcttttttGatatcccagtagacaatttg	7	8	2	2			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chrX:106885605G>C	uc004ene.4	+	3	620	c.415G>C	c.(415-417)Gat>Cat	p.D139H	PRPS1_uc011msj.2_Intron|PRPS1_uc010npg.3_Missense_Mutation_p.D106H	NM_002764	NP_002755	P60891	PRPS1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA.	139					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GGGCTTTTTTGATATCCCAGT	0.418													32	79					0	0	1	0	0	C	106885605	G	C	106885605	3	2	178	1	0	0	0	0	1	0	0	0	12578	1290	45	4	429	4	PRPS1	23	106885605	Missense_Mutation	SNP	G	TCGA-EL-A3GR-01A-21D-A202-08	29583588	106885605	48384955	13	3072											
MAST2	23139	broad.mit.edu	37	chr1	46498015	46498015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaagtatggcttcacccTgcgggccattcgcgtctaca	10	13	2	1			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:46498015T>C	uc001cov.3	+	24	3636	c.3353T>C	c.(3352-3354)cTg>cCg	p.L1118P	MAST2_uc001cow.3_Missense_Mutation_p.L1118P|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1118	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTTCACCCTGCGGGCCATT	0.577													4	87					0	0	1	0	0	C	46498015	T	C	46498015	3	2	179	1	0	0	0	0	1	0	0	0	9325	1580	55	3	3451	3	MAST2	1	46498015	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08		46498015	202752606	1	3073											
BARHL2	343472	broad.mit.edu	37	chr1	91182584	91182584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcgccgtccctacggTatcaatctccgaacagggag	12	12	2	1			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:91182584T>C	uc001dns.3	-	0	211	c.169A>G	c.(169-171)Acc>Gcc	p.T57A		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	57						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GTCCCTACGGTATCAATCTCC	0.607													3	106					0	0	1	0	0	C	91182584	T	C	91182584	3	2	179	1	0	0	0	0	1	0	0	0	1314	1638	57	3	1006	3	BARHL2	1	91182584	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08	44684569	91182584	158068037	2	3074											
FILIP1L	11259	broad.mit.edu	37	chr3	99567862	99567862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagatctccaggttgcacAaagttggcattgggtttagt	11	7	1	1			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr3:99567862A>G	uc003dtm.3	-	4	3121	c.2658T>C	c.(2656-2658)ttT>ttC	p.F886F	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Silent_p.F886F|FILIP1L_uc010hpf.3_Silent_p.F462F|FILIP1L_uc010hpg.3_Silent_p.F646F|FILIP1L_uc003dtn.3_Silent_p.F646F|FILIP1L_uc021xbr.1_Silent_p.F646F|FILIP1L_uc003dtp.1_Silent_p.F646F	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	886						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CAGGTTGCACAAAGTTGGCAT	0.448													9	211					0	0	1	0	0	G	99567862	A	G	99567862	2	3	179	1	0	0	0	0	0	0	0	1	5895	127	5	3		3	FILIP1L	3	99567862	Silent	SNP	A	TCGA-EL-A3GS-01A-11D-A20C-08		99567862	98454568	3	3075											
ENPEP	2028	broad.mit.edu	37	chr4	111434635	111434635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgattctttgatgtcttcgcAtccaattattgtgactgtga	8	7	2	4			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr4:111434635A>T	uc003iab.4	+	6	1715	c.1373A>T	c.(1372-1374)cAt>cTt	p.H458L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	458					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATGTCTTCGCATCCAATTATT	0.353													63	75					0	0	1	0	0	T	111434635	A	T	111434635	3	4	179	1	0	0	0	0	1	0	0	0	5128	217	8	5	1399	5	ENPEP	4	111434635	Missense_Mutation	SNP	A	TCGA-EL-A3GS-01A-11D-A20C-08		111434635	79719641	4	3076											
PCDHGC5	56097	broad.mit.edu	37	chr5	140866043	140866043	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgatgctgggaaccctcctCtcagtacccacagaactatt	7	14	1	2			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr5:140866043C>T	uc003lky.2	+	0	1303	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.L435F|PCDHGC5_uc011dbc.2_5'Flank|PCDHGC5_uc003lla.2_5'Flank	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	434	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L434I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCCTCCTCTCAGTACCCA	0.468													26	46					0	0	1	0	0	T	140866043	C	T	140866043	3	4	179	1	0	0	0	0	1	0	0	0	11571	913	32	2		2	PCDHGC5	5	140866043	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		140866043	40049217	5	3077											
ATP6V0E1	8992	broad.mit.edu	37	chr5	172410879	172410879	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgaccatggcgtatcacggcCtcactgtgcctctcattgtg	10	14	3	0			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr5:172410879C>G	uc003mcd.1	+	0	117	c.16C>G	c.(16-18)Ctc>Gtc	p.L6V		NM_003945	NP_003936	O15342	VA0E1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 (ATP6V0E1), mRNA.	6					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTATCACGGCCTCACTGTGCC	0.612													7	256					0	0	1	0	0	G	172410879	C	G	172410879	3	3	179	1	0	0	0	0	1	0	0	0	1175	681	24	4	18	4	ATP6V0E1	5	172410879	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08	31544836	172410879	8504381	6	3078											
CDC5L	988	broad.mit.edu	37	chr6	44387276	44387276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagagtgacttctcaggtGtaactccacagcgacaagtt	10	9	1	2			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr6:44387276G>A	uc003oxl.3	+	8	1493	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	395	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTCTCAGGTGTAACTCCACA	0.423													4	98					0	0	1	0	0	A	44387276	G	A	44387276	3	1	179	1	0	0	0	0	1	0	0	0	3082	1377	48	2	1217	2	CDC5L	6	44387276	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		44387276	126727791	7	3079											
BMP5	653	broad.mit.edu	37	chr6	55739439	55739439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcataaagagaggtgcagaGgacgcttgttttccaggtga	14	6	0	3			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr6:55739439G>A	uc003pcq.3	-	0	937	c.225C>T	c.(223-225)tcC>tcT	p.S75S	BMP5_uc011dxf.2_Silent_p.S75S	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	75					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGGTGCAGAGGACGCTTGTT	0.468													4	123					0	0	1	0	0	A	55739439	G	A	55739439	2	1	179	1	0	0	0	0	0	0	0	1	1463	987	35	2		2	BMP5	6	55739439	Silent	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08	11352163	55739439	115375628	8	3080											
PIK3CG	5294	broad.mit.edu	37	chr7	106513029	106513029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcccttgccagatttctGctgaagcgtggtttaagagt	12	9	1	3			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr7:106513029G>A	uc003vdv.4	+	2	2128	c.2043G>A	c.(2041-2043)ctG>ctA	p.L681L	PIK3CG_uc003vdu.3_Silent_p.L681L|PIK3CG_uc003vdw.3_Silent_p.L681L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	681					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCAGATTTCTGCTGAAGCGTG	0.378													10	151					0	0	1	0	0	A	106513029	G	A	106513029	2	1	179	1	0	0	0	0	0	0	0	1	11916	1306	46	2		2	PIK3CG	7	106513029	Silent	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		106513029	52625634	9	3081											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				29	49					0	0	1	0	0	T	140453136	A	T	140453136	3	4	179	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GS-01A-11D-A20C-08	33940107	140453136	18685527	10	3082											
SLC39A4	55630	broad.mit.edu	37	chr8	145639747	145639747	+	Frame_Shift_Del	DEL	A	A	-													gacccccctgcagccagtgcAggtcagcagcaggaggccaa							TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr8:145639747delA	uc003zcq.3	-	5	1148	c.1048delT	c.(1048-1050)tgcfs	p.C350fs	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_Frame_Shift_Del_p.C74fs|SLC39A4_uc003zcp.3_Frame_Shift_Del_p.C325fs	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	350						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGCCAGTGCAGGTCAGCAGC	0.657													2	4	---	---	---	---						-	145639747	A	-	145639747	7	5	179	1	0	1	0	1	0	0	0	0	14620	188	7	0	923	0	SLC39A4	8	145639747	Frame_Shift_Del	DEL	A	TCGA-EL-A3GS-01A-11D-A20C-08		145639747	724275	11	3083											
FRMPD1	22844	broad.mit.edu	37	chr9	37745690	37745690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagacagtttcaccagccGtccctccagaggggatcaag	11	13	2	2			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr9:37745690G>A	uc004aag.1	+	15	3705	c.3661G>A	c.(3661-3663)Gtc>Atc	p.V1221I	FRMPD1_uc004aah.1_Missense_Mutation_p.V1221I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1221						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCACCAGCCGTCCCTCCAGA	0.527													4	124					0	0	1	0	0	A	37745690	G	A	37745690	3	1	179	1	0	0	0	0	1	0	0	0	6057	1145	40	1	3719	1	FRMPD1	9	37745690	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		37745690	103467741	12	3084											
CD44	960	broad.mit.edu	37	chr11	35201882	35201882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccaactccatctgtgcaGcaaacaacacaggggtgtac	8	14	1	0			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr11:35201882G>A	uc001mvu.3	+	2	729	c.295G>A	c.(295-297)Gca>Aca	p.A99T	CD44_uc021qfw.1_Missense_Mutation_p.A99T|CD44_uc001mvv.3_Missense_Mutation_p.A99T|CD44_uc001mvw.3_Missense_Mutation_p.A99T|CD44_uc001mwc.4_Missense_Mutation_p.A99T|CD44_uc001mvx.3_Missense_Mutation_p.A99T|CD44_uc010rer.2_Missense_Mutation_p.A99T|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	99	Link.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CATCTGTGCAGCAAACAACAC	0.493													3	73					0	0	1	0	0	A	35201882	G	A	35201882	3	1	179	1	0	0	0	0	1	0	0	0	3017	971	34	2	305	2	CD44	11	35201882	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		35201882	99804634	13	3085											
DYRK4	8798	broad.mit.edu	37	chr12	4705796	4705796	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgaagatcctggaagCtctcagaaagaaggacaaag	13	7	1	4			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr12:4705796C>G	uc009zeh.1	+	7	848	c.806C>G	c.(805-807)gCt>gGt	p.A269G	DYRK4_uc001qmx.3_Missense_Mutation_p.A154G|DYRK4_uc001qmy.2_Missense_Mutation_p.A154G|DYRK4_uc021qtq.1_Missense_Mutation_p.A8G	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	154	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATCCTGGAAGCTCTCAGAAAG	0.498													5	13					0	0	1	0	0	G	4705796	C	G	4705796	3	3	179	1	0	0	0	0	1	0	0	0	4858	797	28	4	475	4	DYRK4	12	4705796	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		4705796	129146099	14	3086											
TCL1B	9623	broad.mit.edu	37	chr14	96157184	96157184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgtgtggcagctctacCccgggaggaagtaccgagca	14	14	1	0			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr14:96157184C>G	uc001yfa.3	+	1	325	c.274C>G	c.(274-276)Ccc>Gcc	p.P92A	TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Missense_Mutation_p.P92A	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	92								p.P92P(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCAGCTCTACCCCGGGAGGAA	0.607													3	100					0	0	1	0	0	G	96157184	C	G	96157184	3	3	179	1	0	0	0	0	1	0	0	0	15702	623	22	4	280	4	TCL1B	14	96157184	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		96157184	11192356	15	3087											
CHST5	23563	broad.mit.edu	37	chr16	75563706	75563706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacctccttgagcaccaCgtggctgtaggagcggcagg	15	13	0	1			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr16:75563706C>T	uc002fej.1	-	4	916	c.595G>A	c.(595-597)Gtg>Atg	p.V199M	CHST5_uc002fei.3_Missense_Mutation_p.V193M|CHST5_uc021tlk.1_Missense_Mutation_p.V193M	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	193					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGAGCACCACGTGGCTGTAG	0.657													63	117					0	0	1	0	0	T	75563706	C	T	75563706	3	4	179	1	0	0	0	0	1	0	0	0	3407	536	19	1	662	1	CHST5	16	75563706	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		75563706	14791047	16	3088											
SDC4	6385	broad.mit.edu	37	chr20	43959044	43959044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaagatgttgctgcccTgcacagtgctggacattgac	10	11	1	2			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr20:43959044T>C	uc002xnu.3	-	3	447	c.407A>G	c.(406-408)cAg>cGg	p.Q136R	SDC4_uc010zws.2_Missense_Mutation_p.Q64R	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	136						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				GTTGCTGCCCTGCACAGTGCT	0.527			T	ROS1	NSCLC								41	66					0	0	1	0	0	C	43959044	T	C	43959044	3	2	179	1	0	0	0	0	1	0	0	0	13954	1580	55	3	197	3	SDC4	20	43959044	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08		43959044	19066476	17	3089											
ZNF280C	55609	broad.mit.edu	37	chrX	129354452	129354452	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacgatgaactcctttTttctgtttacagaaaatatt	7	7	1	2			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chrX:129354452T>A	uc004evm.3	-	12	1601	c.1398A>T	c.(1396-1398)aaA>aaT	p.K466N	ZNF280C_uc010nrf.2_Missense_Mutation_p.K417N	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAACTCCTTTTTTCTGTTTAC	0.343													25	39					0	0	1	0	0	A	129354452	T	A	129354452	3	1	179	1	0	0	0	0	1	0	0	0	17813	1838	64	5	843	5	ZNF280C	23	129354452	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08		129354452	25916108	18	3090											
GRIK3	2899	broad.mit.edu	37	chr1	37356590	37356590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggtcaaggttgtgttggGcagcagagtcctgttcctgt	14	7	1	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:37356590G>A	uc001caz.2	-	1	358	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	GRIK3_uc001cba.1_Missense_Mutation_p.P75S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	75					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTGTGTTGGGCAGCAGAGTC	0.527													5	215					0	0	1	0	0	A	37356590	G	A	37356590	3	1	180	1	0	0	0	0	1	0	0	0	6775	1203	42	2	2596	2	GRIK3	1	37356590	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		37356590	211894031	1	3091											
ATP6V0B	533	broad.mit.edu	37	chr1	44442971	44442971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagctgaagtgctctcCttctctacctataactatag	8	10	2	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:44442971C>T	uc001clf.3	+	5	1436	c.533C>T	c.(532-534)cCt>cTt	p.P178L	ATP6V0B_uc001cld.3_Intron|ATP6V0B_uc001cle.3_Intron|B4GALT2_uc001clg.3_5'Flank|B4GALT2_uc001clh.3_5'Flank|B4GALT2_uc010okl.2_5'Flank			Q99437	VATO_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b (ATP6V0B), transcript variant 1, mRNA.	116					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AAGTGCTCTCCTTCTCTACCT	0.478													5	9					0	0	1	0	0	T	44442971	C	T	44442971	3	4	180	1	0	0	0	0	1	0	0	0	1171	696	24	2		2	ATP6V0B	1	44442971	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08	7086381	44442971	204807650	2	3092											
BCL9	607	broad.mit.edu	37	chr1	147084886	147084886	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtgggagcatggggctgaaGaatggggctggaaatggtgc	21	4	0	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:147084886G>T	uc001epq.3	+	4	998	c.258G>T	c.(256-258)aaG>aaT	p.K86N	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	86					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGGGCTGAAGAATGGGGCTG	0.592			T	"IGH@, IGL@"	B-ALL								20	50					0	0	1	0	0	T	147084886	G	T	147084886	3	4	180	1	0	0	0	0	1	0	0	0	1381	933	33	4	264	4	BCL9	1	147084886	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	102641915	147084886	102165735	3	3093											
NAV1	89796	broad.mit.edu	37	chr1	201779154	201779154	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctacagcatcagccacgtGaaacgagtgttggatgcaga	13	9	1	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:201779154G>A	uc021phi.1	+	22	4829	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V	NAV1_uc001gwu.3_Silent_p.V1491V|NAV1_uc001gwx.3_Silent_p.V1100V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1494					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAGCCACGTGAAACGAGTGT	0.517													15	139					0	0	1	0	0	A	201779154	G	A	201779154	2	1	180	1	0	0	0	0	0	0	0	1	10183	1277	45	2		2	NAV1	1	201779154	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	54694268	201779154	47471467	4	3094											
ACTA1	58	broad.mit.edu	37	chr1	229568532	229568532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagttggtgatgatgccGtgctcgatagggtacttcag	13	9	1	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:229568532G>A	uc001htm.3	-	2	330	c.225C>T	c.(223-225)caC>caT	p.H75H		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	75			H -> L (in NEM3).|H -> R (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGATGATGCCGTGCTCGATAG	0.582													4	200					0	0	1	0	0	A	229568532	G	A	229568532	2	1	180	1	0	0	0	0	0	0	0	1	191	1136	40	1		1	ACTA1	1	229568532	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	27789378	229568532	19682089	5	3095											
CNRIP1	25927	broad.mit.edu	37	chr2	68544345	68544345	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcgttggggtcacaccttCtgtgtcatatgtacccgtat	9	11	3	0	rs34128476	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:68544345C>T	uc002sek.4	-	1	925	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CNRIP1_uc002sej.4_Missense_Mutation_p.E92K|CNRIP1_uc010fdd.1_Missense_Mutation_p.E92K	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	Homo sapiens cannabinoid receptor interacting protein 1 (CNRIP1), transcript variant CRIP1a, mRNA.	92							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						GTCACACCTTCTGTGTCATAT	0.493													38	72					0	0	1	0	0	T	68544345	C	T	68544345	3	4	180	1	0	0	0	0	1	0	0	0	3633	922	32	2	289	2	CNRIP1	2	68544345	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		68544345	174655028	6	3096											
TTL	150465	broad.mit.edu	37	chr2	113251935	113251935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacgtttggattgcaaagtCatcagccggtgccaaaggtg	12	9	2	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:113251935C>T	uc002thu.3	+	2	631	c.452C>T	c.(451-453)tCa>tTa	p.S151L		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	Homo sapiens tubulin tyrosine ligase (TTL), mRNA.	151	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATTGCAAAGTCATCAGCCGGT	0.428			T	ETV6	ALL								16	35					0	0	1	0	0	T	113251935	C	T	113251935	3	4	180	1	0	0	0	0	1	0	0	0	16718	838	29	2	462	2	TTL	2	113251935	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08	44707590	113251935	129947438	7	3097											
SETD5	55209	broad.mit.edu	37	chr3	9517666	9517666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcctccagggtatctgCggtttccaattcacagcact	9	14	2	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:9517666C>T	uc003brt.3	+	22	4655	c.4220C>T	c.(4219-4221)gCg>gTg	p.A1407V	SETD5_uc003bru.3_Missense_Mutation_p.A1309V|SETD5_uc003brv.3_Missense_Mutation_p.A1296V|SETD5_uc010hck.3_Missense_Mutation_p.A889V|SETD5_uc003brx.3_Missense_Mutation_p.A1076V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1407	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGGTATCTGCGGTTTCCAAT	0.567													15	40					0	0	1	0	0	T	9517666	C	T	9517666	3	4	180	1	0	0	0	0	1	0	0	0	14134	768	27	1	4302	1	SETD5	3	9517666	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		9517666	188504764	8	3098											
LMLN	89782	broad.mit.edu	37	chr3	197746190	197746190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctaacttgcagacaGgaccagagagcagttgccgt	12	11	0	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:197746190G>A	uc010iar.3	+	12	1432	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	LMLN_uc003fyt.3_Silent_p.Q418Q|LMLN_uc011buo.2_Silent_p.Q433Q|LMLN_uc010ias.3_Silent_p.Q381Q|LMLN_uc003fyu.3_Silent_p.Q230Q	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	433					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTTGCAGACAGGACCAGAGAG	0.488													3	105					0	0	1	0	0	A	197746190	G	A	197746190	2	1	180	1	0	0	0	0	0	0	0	1	8847	991	35	2		2	LMLN	3	197746190	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	188228524	197746190	276240	9	3099											
ZBTB49	166793	broad.mit.edu	37	chr4	4322849	4322849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacaccccagccggtggcGaaccactgcaggccgatggc	14	15	0	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr4:4322849G>A	uc003ghu.3	+	7	2279	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	ZBTB49_uc003ghv.3_Missense_Mutation_p.E185K|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Missense_Mutation_p.E280K	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGCCGGTGGCGAACCACTGCA	0.602													3	68					0	0	1	0	0	A	4322849	G	A	4322849	3	1	180	1	0	0	0	0	1	0	0	0	17547	1059	37	1	2130	1	ZBTB49	4	4322849	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		4322849	186831427	10	3100											
PDZD2	23037	broad.mit.edu	37	chr5	32089285	32089285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtgaaggctggggggAcggaccacaggaaacccttg	16	9	0	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr5:32089285A>G	uc003jhl.3	+	19	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_uc003jhm.3_Missense_Mutation_p.T1911A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1911					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGGGGGACGGACCACAG	0.582													3	154					0	0	1	0	0	G	32089285	A	G	32089285	3	3	180	1	0	0	0	0	1	0	0	0	11701	275	10	3	5805	3	PDZD2	5	32089285	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08		32089285	148825975	11	3101											
ALDH5A1	7915	broad.mit.edu	37	chr6	24505158	24505158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctggcagccggctgtaCtgtcgtggtgaagcctgccg	15	14	0	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr6:24505158C>T	uc003nef.3	+	3	699	c.671C>T	c.(670-672)aCt>aTt	p.T224I	ALDH5A1_uc003neg.3_Missense_Mutation_p.T224I	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	224					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GCCGGCTGTACTGTCGTGGTG	0.592													79	102					0	0	1	0	0	T	24505158	C	T	24505158	3	4	180	1	0	0	0	0	1	0	0	0	502	565	20	2	685	2	ALDH5A1	6	24505158	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		24505158	146609909	12	3102											
CALCR	799	broad.mit.edu	37	chr7	93055811	93055811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcagcagcggctgcagCgcgagcagagcggttggagg	18	12	0	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:93055811C>T	uc003umv.2	-	15	1684	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A428T|CALCR_uc003umw.2_Missense_Mutation_p.A428T	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	444					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.I462I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCGGCTGCAGCGCGAGCAGAG	0.592													46	88					0	0	1	0	0	T	93055811	C	T	93055811	3	4	180	1	0	0	0	0	1	0	0	0	2579	768	27	1	146	1	CALCR	7	93055811	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		93055811	66082852	13	3103											
MKLN1	4289	broad.mit.edu	37	chr7	131073683	131073683	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaaacattcaccttgAagcataaaattgatgaacag	6	7	1	4			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:131073683A>T	uc011kpm.2	+	3	416	c.352A>T	c.(352-354)Aag>Tag	p.K118*	MKLN1_uc011kpl.2_Nonsense_Mutation_p.K95*|MKLN1_uc010lmh.2_Nonsense_Mutation_p.K118*|MKLN1_uc003vqs.3_5'UTR	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	118					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTCACCTTGAAGCATAAAAT	0.299													9	20					0	0	1	0	0	T	131073683	A	T	131073683	4	4	180	1	0	0	0	0	0	1	0	0	9603	247	9	5	399	5	MKLN1	7	131073683	Nonsense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	38017872	131073683	28064980	14	3104											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	59					0	0	1	0	0	T	140453136	A	T	140453136	3	4	180	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	9379453	140453136	18685527	15	3105											
TNKS	8658	broad.mit.edu	37	chr8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctttagcagagttggccGtaggaggagcctccaatgca	13	11	0	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr8:9609296G>A	uc003wss.3	+	18	3015	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_uc011kww.2_Missense_Mutation_p.V767I|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1004					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													4	172					0	0	1	0	0	A	9609296	G	A	9609296	3	1	180	1	0	0	0	0	1	0	0	0	16316	1145	40	1	3084	1	TNKS	8	9609296	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		9609296	136754726	16	3106											
MPDZ	8777	broad.mit.edu	37	chr9	13125351	13125351	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagcatggatggtaagTtttactgtcatctttgctgt	9	7	3	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:13125351T>C	uc010mhy.3	-	33	4728	c.4671A>G	c.(4669-4671)aaA>aaG	p.K1557K	MPDZ_uc003zky.4_Silent_p.K119K|MPDZ_uc010mib.3_Silent_p.K262K|MPDZ_uc010mhx.3_Silent_p.K379K|MPDZ_uc011lmm.2_Silent_p.K416K|MPDZ_uc003zkz.4_Silent_p.K250K|MPDZ_uc010mhz.3_Silent_p.K1524K|MPDZ_uc011lmn.2_Silent_p.K1524K|MPDZ_uc003zlb.4_Silent_p.K1557K|MPDZ_uc010mia.1_Silent_p.K1557K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1557	PDZ 9.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGATGGTAAGTTTTACTGTCA	0.443													29	32					0	0	1	0	0	C	13125351	T	C	13125351	2	2	180	1	0	0	0	0	0	0	0	1	9722	1722	60	3		3	MPDZ	9	13125351	Silent	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		13125351	128088080	17	3107											
GALT	2592	broad.mit.edu	37	chr9	34647938	34647938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcacagaggagctgggtGcccagtacccttgggtgcag	15	11	1	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:34647938G>A	uc003zve.3	+	4	554	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	GALT_uc003zvf.3_Missense_Mutation_p.A54T|GALT_uc011lop.1_Missense_Mutation_p.A115T|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	163					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGAGCTGGGTGCCCAGTACCC	0.587									Galactosemia				30	44					0	0	1	0	0	A	34647938	G	A	34647938	3	1	180	1	0	0	0	0	1	0	0	0	6230	1319	46	2	505	2	GALT	9	34647938	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	21522587	34647938	106565493	18	3108											
BSPRY	54836	broad.mit.edu	37	chr9	116116526	116116526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgttgcagaacaagAttgtggaccagtgtgagagg	15	4	0	3			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:116116526A>G	uc004bhg.4	+	1	256	c.208A>G	c.(208-210)Att>Gtt	p.I70V	BSPRY_uc010muw.3_Missense_Mutation_p.I70V	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	70					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCAGAACAAGATTGTGGACCA	0.507													30	35					0	0	1	0	0	G	116116526	A	G	116116526	3	3	180	1	0	0	0	0	1	0	0	0	1532	333	12	3	214	3	BSPRY	9	116116526	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	81468588	116116526	25096905	19	3109											
COL5A1	1289	broad.mit.edu	37	chr9	137721851	137721851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttggcccaaagaaaaCccgggctcctggttcagtga	10	12	2	2	rs138396959		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:137721851C>T	uc004cfe.3	+	63	5479	c.5097C>T	c.(5095-5097)aaC>aaT	p.N1699N	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1699	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E1698*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGAAAACCCGGGCTCCT	0.537													5	21					0	0	1	0	0	T	137721851	C	T	137721851	2	4	180	1	0	0	0	0	0	0	0	1	3696	506	18	2		2	COL5A1	9	137721851	Silent	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08	21605325	137721851	3491580	20	3110											
JMJD1C	221037	broad.mit.edu	37	chr10	64967938	64967938	+	Frame_Shift_Del	DEL	G	G	-													tctgatgtggaagatgttctGgtatcttgcctactaaacct							TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:64967938delG	uc001jmn.3	-	9	3791	c.3491delC	c.(3490-3492)ccafs	p.P1164fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.P945fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.P876fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.P982fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.P982fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Frame_Shift_Del_p.P201fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1164					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGATGTTCTGGTATCTTGCC	0.388													92	183	---	---	---	---						-	64967938	G	-	64967938	7	5	180	1	0	1	0	1	0	0	0	0	7950	1348	47	0	4199	0	JMJD1C	10	64967938	Frame_Shift_Del	DEL	G	TCGA-EL-A3GU-01A-11D-A21A-08		64967938	70566809	21	3111											
SLIT1	6585	broad.mit.edu	37	chr10	98816982	98816982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggagctgtagggtgTataggcctccaaacacacca	10	11	0	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:98816982T>C	uc001kmw.2	-	11	1394	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	SLIT1_uc009xvh.1_Missense_Mutation_p.Y391C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	381					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGGGTGTATAGGCCTCC	0.572													3	62					0	0	1	0	0	C	98816982	T	C	98816982	3	2	180	1	0	0	0	0	1	0	0	0	14739	1638	57	3	3566	3	SLIT1	10	98816982	Missense_Mutation	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08	33849044	98816982	36717765	22	3112											
MXI1	4601	broad.mit.edu	37	chr10	111986020	111986020	+	Frame_Shift_Del	DEL	T	T	-													gtctgctggaggctgccgagTttttggagcgccgggagcga							TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:111986020delT	uc001kza.3	+	0	259	c.52delT	c.(52-54)tttfs	p.F18fs	MXI1_uc001kyy.3_Intron|MXI1_uc001kyz.3_Intron|MXI1_uc010qrc.2_Frame_Shift_Del_p.F18fs|MXI1_uc009xxv.3_5'Flank	NM_005962	NP_005953	P50539	MXI1_HUMAN	Homo sapiens MAX interactor 1 (MXI1), transcript variant 1, mRNA.	18					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGCTGCCGAGTTTTTGGAGCG	0.677													2	4	---	---	---	---						-	111986020	T	-	111986020	7	5	180	1	0	1	0	1	0	0	0	0	10002	1725	60	0	332	0	MXI1	10	111986020	Frame_Shift_Del	DEL	T	TCGA-EL-A3GU-01A-11D-A21A-08	13169038	111986020	23548727	23	3113											
MRPL23	6150	broad.mit.edu	37	chr11	1977593	1977593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcgaggaggagaggcaGcagaggcagagcagcgaccc	17	10	0	3			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:1977593G>A	uc001lux.3	+	4	496	c.405G>A	c.(403-405)caG>caA	p.Q135Q		NM_021134	NP_066957	Q16540	RM23_HUMAN	Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.	135					translation	mitochondrial large ribosomal subunit	RNA binding|nucleotide binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGGAGAGGCAGCAGAGGCAGA	0.682													4	81					0	0	1	0	0	A	1977593	G	A	1977593	2	1	180	1	0	0	0	0	0	0	0	1	9789	962	34	2		2	MRPL23	11	1977593	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		1977593	133028923	24	3114											
PRMT3	10196	broad.mit.edu	37	chr11	20409654	20409654	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggaggatgaggacgatgcaGatctcccccacggcaagcag	15	11	1	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:20409654G>A	uc001mqb.3	+	1	335	c.118G>A	c.(118-120)Gat>Aat	p.D40N	PRMT3_uc001mqc.3_Intron|PRMT3_uc010rdn.2_Intron	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	40							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGACGATGCAGATCTCCCCCA	0.677													3	94					0	0	1	0	0	A	20409654	G	A	20409654	3	1	180	1	0	0	0	0	1	0	0	0	12538	942	33	2	124	2	PRMT3	11	20409654	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	18432061	20409654	114596862	25	3115											
RELT	84957	broad.mit.edu	37	chr11	73105583	73105583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgccaccatctccacaccGtgcagggcctggcctcgctc	9	20	1	0	rs146155880		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:73105583G>A	uc001otv.3	+	8	1015	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	RELT_uc001otw.3_Missense_Mutation_p.V284M|RELT_uc001otx.3_Non-coding_Transcript	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	284						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TCTCCACACCGTGCAGGGCCT	0.697													4	146					0	0	1	0	0	A	73105583	G	A	73105583	3	1	180	1	0	0	0	0	1	0	0	0	13221	1145	40	1	880	1	RELT	11	73105583	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	52695929	73105583	61900933	26	3116											
MSI1	4440	broad.mit.edu	37	chr12	120794808	120794808	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacctcctttggctgagcTttcttacattccacctgcaa	5	14	2	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr12:120794808T>G	uc001tye.1	-	8	613	c.549A>C	c.(547-549)aaA>aaC	p.K183N		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	183	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGCTGAGCTTTCTTACATT	0.542											OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	1	0	0	G	120794808	T	G	120794808	3	3	180	1	0	0	0	0	1	0	0	0	9875	1606	56	5	563	5	MSI1	12	120794808	Missense_Mutation	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		120794808	13057087	27	3117											
NIN	51199	broad.mit.edu	37	chr14	51192784	51192784	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagttgttcctggtttcCctgaagggaagaaaagtata	10	7	0	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr14:51192784C>T	uc001wyi.3	-	30	6270	c.6079_splice	c.e30-1	p.G2027_splice	NIN_uc001wyj.3_Splice_Site|NIN_uc001wym.2_Splice_Site_p.G2027_splice|NIN_uc001wyk.3_Splice_Site_p.G1314_splice	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	2027					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCTGGTTTCCCTGAAGGGAA	0.378			T	PDGFRB	MPD								19	36					0	0	1	0	0	T	51192784	C	T	51192784	5	4	180	1	0	0	0	0	0	0	1	0	10417	637	22	2	411	2	NIN	14	51192784	Splice_Site	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		51192784	56156756	28	3118											
MED31	51003	broad.mit.edu	37	chr17	6553677	6553677	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcttaacaacttacaAttaaggtaatttgggttggc	11	5	0	0			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr17:6553677A>G	uc002gdg.4	-	2	212	c.106_splice	c.e2+1	p.F36_splice	MED31_uc002gdh.4_Splice_Site|C17orf100_uc010clp.1_5'Flank	NM_016060	NP_057144	Q9Y3C7	MED31_HUMAN	Homo sapiens mediator complex subunit 31 (MED31), mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						ACAACTTACAATTAAGGTAAT	0.353													6	185					0	0	1	0	0	G	6553677	A	G	6553677	5	3	180	1	0	0	0	0	0	0	1	0	9449	115	4	3	302	3	MED31	17	6553677	Splice_Site	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08		6553677	74641533	29	3119											
SLC1A6	6511	broad.mit.edu	37	chr19	15063783	15063783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgtgatgtcttccgtggGcaagccgaccgacgtaagca	14	11	1	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:15063783G>A	uc002naa.1	-	7	1463	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	SLC1A6_uc010dzu.1_Missense_Mutation_p.P408S|SLC1A6_uc010xod.1_Missense_Mutation_p.P422S	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	486					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCTTCCGTGGGCAAGCCGACC	0.612													4	213					0	0	1	0	0	A	15063783	G	A	15063783	3	1	180	1	0	0	0	0	1	0	0	0	14436	1203	42	2	246	2	SLC1A6	19	15063783	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		15063783	44065200	30	3120											
HNF4A	3172	broad.mit.edu	37	chr20	43043255	43043255	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctgctggttctcgttgagTgggccaagtacatcccagct	12	11	1	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr20:43043255T>A	uc002xma.3	+	4	690	c.601T>A	c.(601-603)Tgg>Agg	p.W201R	HNF4A_uc002xlt.3_Missense_Mutation_p.W179R|HNF4A_uc002xlu.3_Missense_Mutation_p.W179R|HNF4A_uc002xlv.3_Missense_Mutation_p.W179R|HNF4A_uc002xly.3_Missense_Mutation_p.W201R|HNF4A_uc010ggq.3_Missense_Mutation_p.W194R|HNF4A_uc002xlz.3_Missense_Mutation_p.W201R	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	201					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.E200K(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCGTTGAGTGGGCCAAGTA	0.622													5	32					0	0	1	0	0	A	43043255	T	A	43043255	3	1	180	1	0	0	0	0	1	0	0	0	7253	1696	59	5	672	5	HNF4A	20	43043255	Missense_Mutation	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		43043255	19982265	31	3121											
TTC38	55020	broad.mit.edu	37	chr22	46669963	46669963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagagacatttgccaAtgggtgaggggcctccctgg	15	9	0	2			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr22:46669963A>G	uc003bhi.3	+	3	438	c.362A>G	c.(361-363)aAt>aGt	p.N121S	TTC38_uc011aqx.2_Missense_Mutation_p.N121S	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	121							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACATTTGCCAATGGGTGAGGG	0.632													4	38					0	0	1	0	0	G	46669963	A	G	46669963	3	3	180	1	0	0	0	0	1	0	0	0	16703	101	4	3	376	3	TTC38	22	46669963	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08		46669963	4634603	32	3122											
MAGED2	10916	broad.mit.edu	37	chrX	54841926	54841926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaaagcccaagagagTggcagtgccagcactggtgc	13	11	0	1			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrX:54841926T>C	uc004dtk.1	+	11	1726	c.1632T>C	c.(1630-1632)agT>agC	p.S544S	MAGED2_uc004dtl.1_Silent_p.S544S|MAGED2_uc004dtm.1_Silent_p.S459S|MAGED2_uc004dtn.1_Silent_p.S544S|MAGED2_uc004dto.1_Silent_p.S518S	NM_177433	NP_957516	Q9UNF1	MAGD2_HUMAN	Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.	544										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CCCAAGAGAGTGGcagtgcca	0.617													4	11					0	0	1	0	0	C	54841926	T	C	54841926	2	2	180	1	0	0	0	0	0	0	0	1	9184	1693	59	3		3	MAGED2	23	54841926	Silent	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		54841926	100428634	33	3123											
C1QA	712	broad.mit.edu	37	chr1	22965379	22965379	+	Frame_Shift_Del	DEL	C	C	-													ttaaaggagaccagggggaaCctgggccctctggaaacccc							TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr1:22965379delC	uc001bfy.3	+	2	302	c.217delC	c.(217-219)cctfs	p.P73fs		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	73	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGGGGGAACCTGGGCCCTC	0.647													2	4	---	---	---	---						-	22965379	C	-	22965379	7	5	181	1	0	1	0	1	0	0	0	0	1954	507	18	0	223	0	C1QA	1	22965379	Frame_Shift_Del	DEL	C	TCGA-EL-A3GV-01A-11D-A21A-08		22965379	226285242	1	3124											
IRAK2	3656	broad.mit.edu	37	chr3	10258686	10258686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtttcacagcttcatctAcccctacatggcaaatggtt	6	12	3	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:10258686A>G	uc003bve.1	+	6	933	c.857A>G	c.(856-858)tAc>tGc	p.Y286C		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	286	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGCTTCATCTACCCCTACATG	0.567													4	141					0	0	1	0	0	G	10258686	A	G	10258686	3	3	181	1	0	0	0	0	1	0	0	0	7823	391	14	3	883	3	IRAK2	3	10258686	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		10258686	187763744	2	3125											
SLC6A20	54716	broad.mit.edu	37	chr3	45812903	45812903	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggccaagtgagaagaagatCtgggtggctgcattgatcca	14	7	1	4			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:45812903C>A	uc011bai.2	-	5	865	c.741G>T	c.(739-741)caG>caT	p.Q247H	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.Q210H	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	247					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGAAGAAGATCTGGGTGGCTG	0.587													4	62					0	0	1	0	0	A	45812903	C	A	45812903	3	1	181	1	0	0	0	0	1	0	0	0	14684	912	32	4	1061	4	SLC6A20	3	45812903	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	35554217	45812903	152209527	3	3126											
SKIL	6498	broad.mit.edu	37	chr3	170078419	170078419	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttaagtagtcagagctcGctgggtggaccagcagcatt	12	9	1	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:170078419G>T	uc003fgu.3	+	1	1012	c.300G>T	c.(298-300)tcG>tcT	p.S100S	SKIL_uc011bps.2_Silent_p.S80S|SKIL_uc003fgv.3_Silent_p.S100S|SKIL_uc003fgw.3_Silent_p.S100S	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	100					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTCAGAGCTCGCTGGGTGGAC	0.463													4	167					0	0	1	0	0	T	170078419	G	T	170078419	2	4	181	1	0	0	0	0	0	0	0	1	14358	1074	38	4		4	SKIL	3	170078419	Silent	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	124265516	170078419	27944011	4	3127											
TDO2	6999	broad.mit.edu	37	chr4	156828925	156828925	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggattctgttcgagAgatctttcagaatggccatg	13	6	3	2			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:156828925A>C	uc003ipf.1	+	3	348	c.284A>C	c.(283-285)gAg>gCg	p.E95A		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	95					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TCTGTTCGAGAGATCTTTCAG	0.338													3	73					0	0	1	0	0	C	156828925	A	C	156828925	3	2	181	1	0	0	0	0	1	0	0	0	15724	304	11	5	298	5	TDO2	4	156828925	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		156828925	34325351	5	3128											
TRIML1	339976	broad.mit.edu	37	chr4	189068456	189068456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggccctcaggcctatcttttCcccctgcctcccaaatgagg	8	17	2	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:189068456C>A	uc003izm.1	+	5	1452	c.1337C>A	c.(1336-1338)tCc>tAc	p.S446Y	TRIML1_uc003izn.1_Missense_Mutation_p.S170Y	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.F445I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTATCTTTTCCCCCTGCCTC	0.562													9	94					0	0	1	0	0	A	189068456	C	A	189068456	3	1	181	1	0	0	0	0	1	0	0	0	16547	855	30	4	1359	4	TRIML1	4	189068456	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	32239531	189068456	2085820	6	3129											
GMDS	2762	broad.mit.edu	37	chr6	2117711	2117711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgacttacttccttcaAtgtgagcctggggattctta	8	8	2	2			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:2117711A>G	uc003mtq.3	-	2	439	c.227T>C	c.(226-228)aTt>aCt	p.I76T	GMDS_uc021ykn.1_Missense_Mutation_p.I46T	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	76					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACTTCCTTCAATGTGAGCCTG	0.373													6	68					0	0	1	0	0	G	2117711	A	G	2117711	3	3	181	1	0	0	0	0	1	0	0	0	6486	101	4	3	927	3	GMDS	6	2117711	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		2117711	168997356	7	3130											
UNC93A	54346	broad.mit.edu	37	chr6	167728844	167728844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccatggtggcgtatggGcttgtggagtgcgtggagtc	18	7	0	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:167728844G>A	uc003qvq.3	+	7	1453	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	UNC93A_uc003qvr.3_Silent_p.G384G	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	426						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCGTATGGGCTTGTGGAGT	0.542													14	304					0	0	1	0	0	A	167728844	G	A	167728844	2	1	181	1	0	0	0	0	0	0	0	1	16993	1190	42	2		2	UNC93A	6	167728844	Silent	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	165611133	167728844	3386223	8	3131											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				44	37					0	0	1	0	0	T	140453136	A	T	140453136	3	4	181	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		140453136	18685527	9	3132											
EPB49	2039	broad.mit.edu	37	chr8	21924655	21924655	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattccagtgtgcctggctcTccctccagcatcgtggtgag	12	13	1	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:21924655T>G	uc022asw.1	+	1	116	c.78T>G	c.(76-78)tcT>tcG	p.S26S	EPB49_uc022asq.1_Silent_p.S26S|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Silent_p.S26S|EPB49_uc022ass.1_Intron|EPB49_uc022ast.1_Silent_p.S26S|EPB49_uc022asu.1_Silent_p.S26S|EPB49_uc022asv.1_Silent_p.S26S|EPB49_uc022asx.1_Silent_p.S26S|EPB49_uc022asy.1_Intron	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	26					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		TGCCTGGCTCTCCCTCCAGCA	0.697													3	89					0	0	1	0	0	G	21924655	T	G	21924655	2	3	181	1	0	0	0	0	0	0	0	1	5159	1538	54	5		5	EPB49	8	21924655	Silent	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08		21924655	124439367	10	3133											
FAM83H	286077	broad.mit.edu	37	chr8	144811136	144811136	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggagccccgcgggcgcaCctgtagctcccactcatcac	12	17	2	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:144811136C>T	uc003yzk.3	-	4	806	c.737_splice	c.e4+1	p.S246_splice		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	246					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGCGGGCGCACCTGTAGCTCC	0.657													4	147					0	0	1	0	0	T	144811136	C	T	144811136	5	4	181	1	0	0	0	0	0	0	1	0	5640	521	18	2	2809	2	FAM83H	8	144811136	Splice_Site	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	122886481	144811136	1552886	11	3134											
KIF27	55582	broad.mit.edu	37	chr9	86474101	86474101	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacactctaccatttttaagTttttcatccacattgtgtct	3	10	3	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:86474101T>A	uc004ana.3	-	13	3264	c.3120A>T	c.(3118-3120)aaA>aaT	p.K1040N	KIF27_uc010mpw.3_Missense_Mutation_p.K974N|KIF27_uc010mpx.3_Missense_Mutation_p.K943N	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1040					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATTTTTAAGTTTTTCATCCA	0.398													4	71					0	0	1	0	0	A	86474101	T	A	86474101	3	1	181	1	0	0	0	0	1	0	0	0	8296	1722	60	5	1105	5	KIF27	9	86474101	Missense_Mutation	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08		86474101	54739330	12	3135											
OR1N2	138882	broad.mit.edu	37	chr9	125316381	125316381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatttatagcttgaggaaCagagacatgaaggaggcttt	11	5	1	3			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:125316381C>A	uc011lyx.2	+	0	933	c.933C>A	c.(931-933)aaC>aaA	p.N311K		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R310R(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GCTTGAGGAACAGAGACATGA	0.403													4	54					0	0	1	0	0	A	125316381	C	A	125316381	3	1	181	1	0	0	0	0	1	0	0	0	10970	477	17	4	935	4	OR1N2	9	125316381	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	38842280	125316381	15897050	13	3136											
FZD10	11211	broad.mit.edu	37	chr12	130647501	130647502	+	Frame_Shift_Ins	INS	-	-	C													gccagcatgcagcgcccgggINScccccgcctgtggctggtcc							TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr12:130647501_130647502insC	uc001uii.3	+	0	498_499	c.14_15insC	c.(13-15)ggcfs	p.G5fs	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	5					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CAGCGCCCGGGCCCCCGCCTGT	0.743													3	6	---	---	---	---						C	130647502	-	C	130647501	7	5	181	1	0	1	1	0	0	0	0	0	6129	1203	42	0	16	0	FZD10	12	130647501	Frame_Shift_Ins	INS	-	TCGA-EL-A3GV-01A-11D-A21A-08		130647501	3204394	14	3137											
GOLGA5	9950	broad.mit.edu	37	chr14	93303788	93303788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgagtttttgtaattatAtatatggtaagtaaatttat	8	2	0	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr14:93303788A>G	uc001yaz.1	+	11	2291	c.2109A>G	c.(2107-2109)atA>atG	p.I703M	GOLGA5_uc001yba.1_Intron	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	703					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTGTAATTATATATATGGTAA	0.353			T	RET	papillary thyroid								11	155					0	0	1	0	0	G	93303788	A	G	93303788	3	3	181	1	0	0	0	0	1	0	0	0	6556	439	16	3	2151	3	GOLGA5	14	93303788	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		93303788	14045752	15	3138											
SLC28A2	9153	broad.mit.edu	37	chr15	45545719	45545719	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttccacttaccagagGtactggtgttttggaatctt	10	10	1	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr15:45545719G>C	uc001zva.2	+	3	235	c.170_splice	c.e3+1	p.R57_splice		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	57					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CTTACCAGAGGTACTGGTGTT	0.522													3	17					0	0	1	0	0	C	45545719	G	C	45545719	5	2	181	1	0	0	0	0	0	0	1	0	14532	1275	44	4	177	4	SLC28A2	15	45545719	Splice_Site	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08		45545719	56985673	16	3139											
CNGB1	1258	broad.mit.edu	37	chr16	57938657	57938657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccgatcatcacagagAaagcaaagacgcccgtgaaa	9	12	2	3			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr16:57938657A>G	uc002emt.2	-	25	2680	c.2615T>C	c.(2614-2616)tTc>tCc	p.F872S	CNGB1_uc010cdh.2_Missense_Mutation_p.F866S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	872					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CATCACAGAGAAAGCAAAGAC	0.567													7	158					0	0	1	0	0	G	57938657	A	G	57938657	3	3	181	1	0	0	0	0	1	0	0	0	3600	246	9	3	1172	3	CNGB1	16	57938657	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		57938657	32416096	17	3140											
MYO15A	51168	broad.mit.edu	37	chr17	18022790	18022790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcaagtcgctgtacgggCttgagggcttccaggacctg	14	13	0	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:18022790C>T	uc021trm.1	+	0	895	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	MYO15A_uc021trl.1_Missense_Mutation_p.L226F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	226	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTGTACGGGCTTGAGGGCTT	0.642													5	65					0	0	1	0	0	T	18022790	C	T	18022790	3	4	181	1	0	0	0	0	1	0	0	0	10063	797	28	2	678	2	MYO15A	17	18022790	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08		18022790	63172420	18	3141											
NF1	4763	broad.mit.edu	37	chr17	29588854	29588854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaccttaccagttcaaAgtttgaggaatttatgacta	6	8	1	2			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:29588854A>G	uc002hgg.3	+	34	5086	c.4703A>G	c.(4702-4704)aAg>aGg	p.K1568R	NF1_uc002hgh.3_Missense_Mutation_p.K1547R|NF1_uc002hgi.1_Missense_Mutation_p.K580R	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1568					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.S1567*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAGTTCAAAGTTTGAGGAA	0.428			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	55					0	0	1	0	0	G	29588854	A	G	29588854	3	3	181	1	0	0	0	0	1	0	0	0	10356	72	3	3	4902	3	NF1	17	29588854	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08	11566064	29588854	51606356	19	3142											
LRRC30	339291	broad.mit.edu	37	chr18	7231664	7231664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaacaacttcttcgcGcacatccccatgtgtgtgtt	7	14	2	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:7231664G>A	uc010wzk.2	+	0	528	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	176								p.A176A(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552													8	133					0	0	1	0	0	A	7231664	G	A	7231664	2	1	181	1	0	0	0	0	0	0	0	1	8985	1074	38	1		1	LRRC30	18	7231664	Silent	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08		7231664	70845584	20	3143											
CEP192	55125	broad.mit.edu	37	chr18	13042296	13042296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttcacaagtggatgaaaAtgatgtgacgttaacggctg	11	6	1	3			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:13042296A>G	uc010xac.2	+	14	2110	c.2030A>G	c.(2029-2031)aAt>aGt	p.N677S	CEP192_uc010dlf.1_Intron|CEP192_uc010xad.2_Missense_Mutation_p.N202S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Missense_Mutation_p.N418S	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	272										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGATGAAAATGATGTGACG	0.403													5	67					0	0	1	0	0	G	13042296	A	G	13042296	3	3	181	1	0	0	0	0	1	0	0	0	3251	101	4	3	2084	3	CEP192	18	13042296	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08	5810632	13042296	65034952	21	3144											
SAMD1	90378	broad.mit.edu	37	chr19	14199324	14199324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagggctggcccgaggcGgatggacaggccggtgagca	18	10	1	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:14199324G>A	uc010xnl.2	-	5	1204	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C		NM_138352	NP_612361	Q6SPF0	SAMD1_HUMAN	Homo sapiens sterile alpha motif domain containing 1 (SAMD1), mRNA.	508						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		GGCCCGAGGCGGATGGACAGG	0.577													3	35					0	0	1	0	0	A	14199324	G	A	14199324	3	1	181	1	0	0	0	0	1	0	0	0	13814	1116	39	1	97	1	SAMD1	19	14199324	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08		14199324	44929659	22	3145											
RYR1	6261	broad.mit.edu	37	chr19	38976750	38976750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatgctgggggaggcgGtgcgcgacggtgggcagcac	22	8	0	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:38976750G>A	uc002oit.3	+	33	5585	c.5455G>A	c.(5455-5457)Gtg>Atg	p.V1819M	RYR1_uc002oiu.3_Missense_Mutation_p.V1819M	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1819	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1818G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGGGAGGCGGTGCGCGACGG	0.706													4	123					0	0	1	0	0	A	38976750	G	A	38976750	3	1	181	1	0	0	0	0	1	0	0	0	13768	1261	44	2	5589	2	RYR1	19	38976750	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	24777426	38976750	20152233	23	3146											
BRSK1	84446	broad.mit.edu	37	chr19	55798597	55798597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggtggagcgggagatcGccatcctgaagctcatcgaa	13	11	2	2			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:55798597G>A	uc002qkf.3	+	4	422	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	BRSK1_uc021vbs.1_Missense_Mutation_p.A83T|BRSK1_uc002qkg.3_Missense_Mutation_p.A83T	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	83	Protein kinase.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCGGGAGATCGCCATCCTGAA	0.607													4	168					0	0	1	0	0	A	55798597	G	A	55798597	3	1	181	1	0	0	0	0	1	0	0	0	1523	1087	38	1	257	1	BRSK1	19	55798597	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	16821847	55798597	3330386	24	3147											
ZNF543	125919	broad.mit.edu	37	chr19	57835056	57835056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttaattttccaggtgtctGtgacctttgaggatgtggct	12	6	1	2			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:57835056G>T	uc002qoi.2	+	1	382	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCAGGTGTCTGTGACCTTTGA	0.488													4	154					0	0	1	0	0	T	57835056	G	T	57835056	3	4	181	1	0	0	0	0	1	0	0	0	17973	1377	48	4	31	4	ZNF543	19	57835056	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	2036459	57835056	1293927	25	3148											
ARSF	416	broad.mit.edu	37	chrX	3002560	3002560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgattctgtttattttccTcttgggctatgcttggttct	8	8	3	1			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:3002560T>A	uc022brz.1	+	5	819	c.683T>A	c.(682-684)cTc>cAc	p.L228H	ARSF_uc004cre.2_Missense_Mutation_p.L228H|ARSF_uc004crf.2_Missense_Mutation_p.L228H	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	228						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTATTTTCCTCTTGGGCTAT	0.547													9	90					0	0	1	0	0	A	3002560	T	A	3002560	3	1	181	1	0	0	0	0	1	0	0	0	991	1551	54	5	701	5	ARSF	23	3002560	Missense_Mutation	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08		3002560	152268000	26	3149											
ATRX	546	broad.mit.edu	37	chrX	76939853	76939853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttttcactgtcaacttTtatcttcttcttattttgct	2	10	6	0			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:76939853T>C	uc004ecp.4	-	8	1127	c.895A>G	c.(895-897)Aaa>Gaa	p.K299E	ATRX_uc004ecq.4_Missense_Mutation_p.K261E|ATRX_uc004eco.4_Missense_Mutation_p.K84E|ATRX_uc004ecr.2_Missense_Mutation_p.K260E|ATRX_uc010nlx.1_Missense_Mutation_p.K299E|ATRX_uc010nly.1_Missense_Mutation_p.K244E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	299					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGTCAACTTTTATCTTCTTC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						6	59					0	0	1	0	0	C	76939853	T	C	76939853	3	2	181	1	0	0	0	0	1	0	0	0	1208	1850	64	3	6691	3	ATRX	23	76939853	Missense_Mutation	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08	73937293	76939853	78330707	27	3150											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			80	85					0	0	1	0	0	C	115256529	T	C	115256529	3	2	182	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A3GW-01A-11D-A202-08		115256529	133994092	1	3151											
SCN2A	6326	broad.mit.edu	37	chr2	166231282	166231282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggctaatattcagtatcAtgggagtgaatctctttgct	9	6	3	1			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr2:166231282A>G	uc002udc.3	+	21	4350	c.4060A>G	c.(4060-4062)Atg>Gtg	p.M1354V	SCN2A_uc002udd.3_Missense_Mutation_p.M1354V|SCN2A_uc002ude.3_Missense_Mutation_p.M1354V	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1354					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTCAGTATCATGGGAGTGAA	0.398													3	84					0	0	1	0	0	G	166231282	A	G	166231282	3	3	182	1	0	0	0	0	1	0	0	0	13916	217	8	3	4238	3	SCN2A	2	166231282	Missense_Mutation	SNP	A	TCGA-EL-A3GW-01A-11D-A202-08		166231282	76968091	2	3152											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50679702	50679702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgcagagataatgcGggatattggcactgccatcc	12	9	0	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr3:50679702G>A	uc003day.2	+	6	1085	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	MAPKAPK3_uc003daz.2_Missense_Mutation_p.R148Q|MAPKAPK3_uc003dba.2_Missense_Mutation_p.R148Q|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.R148Q	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	148	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GAGATAATGCGGGATATTGGC	0.562													8	60					0	0	1	0	0	A	50679702	G	A	50679702	3	1	182	1	0	0	0	0	1	0	0	0	9290	1116	39	1	457	1	MAPKAPK3	3	50679702	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		50679702	147342728	3	3153											
DBNL	28988	broad.mit.edu	37	chr7	44089851	44089851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctatgaaggcaacagCaatgacatccgcgtggctgg	11	10	0	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:44089851C>T	uc003tjq.4	+	1	209	c.111C>T	c.(109-111)agC>agT	p.S37S	DBNL_uc003tjo.4_Silent_p.S37S|DBNL_uc003tjp.4_Silent_p.S37S|DBNL_uc011kbm.2_Silent_p.S37S|DBNL_uc011kbo.2_5'UTR|DBNL_uc011kbp.2_Silent_p.S37S|DBNL_uc011kbq.2_5'UTR|DBNL_uc011kbn.2_Intron|DBNL_uc011kbr.2_5'UTR|DBNL_uc011kbs.2_5'Flank	NM_001122956	NP_001116428	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 3, mRNA.	37	ADF-H.				Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AAGGCAACAGCAATGACATCC	0.557													7	106					0	0	1	0	0	T	44089851	C	T	44089851	2	4	182	1	0	0	0	0	0	0	0	1	4255	709	25	2		2	DBNL	7	44089851	Silent	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08		44089851	115048812	4	3154											
TNPO3	23534	broad.mit.edu	37	chr7	128641196	128641196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagttgcatggctaatggCaagttagtctccacattctc	8	9	2	0			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:128641196C>T	uc010lly.2	-	5	1192	c.789G>A	c.(787-789)ttG>ttA	p.L263L	TNPO3_uc003vol.2_Silent_p.L263L|TNPO3_uc010llz.2_Silent_p.L263L|TNPO3_uc003vom.2_Silent_p.L197L	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	263					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGGCTAATGGCAAGTTAGTCT	0.463													61	107					0	0	1	0	0	T	128641196	C	T	128641196	2	4	182	1	0	0	0	0	0	0	0	1	16334	709	25	2		2	TNPO3	7	128641196	Silent	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08	84551345	128641196	30497467	5	3155											
FASTK	10922	broad.mit.edu	37	chr7	150774839	150774839	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccagcagggagaggtaGcgacgcacaatcagagcatg	15	9	1	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:150774839G>C	uc003wix.1	-	5	1166	c.1068C>G	c.(1066-1068)cgC>cgG	p.R356R	AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Silent_p.R117R|FASTK_uc003wiy.1_Silent_p.R215R|FASTK_uc003wiz.1_Silent_p.R329R|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	356					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGGAGAGGTAGCGACGCACAA	0.692													3	51					0	0	1	0	0	C	150774839	G	C	150774839	2	2	182	1	0	0	0	0	0	0	0	1	5684	958	34	4		4	FASTK	7	150774839	Silent	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08	22133643	150774839	8363824	6	3156											
SIGMAR1	10280	broad.mit.edu	37	chr9	34637622	34637622	+	Frame_Shift_Del	DEL	C	C	-													acccagccagagccagacgaCctgggtcagcaccgctgcga							TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr9:34637622delC	uc003zvb.3	-	0	147	c.73delG	c.(73-75)gtcfs	p.V25fs	SIGMAR1_uc003zva.4_Frame_Shift_Del_p.V25fs|SIGMAR1_uc003zuz.3_5'UTR|SIGMAR1_uc003zvd.3_Non-coding_Transcript|SIGMAR1_uc003zvc.3_Frame_Shift_Del_p.V25fs|SIGMAR1_uc011loo.1_Frame_Shift_Del_p.V25fs	NM_005866	NP_005857	Q99720	SGMR1_HUMAN	Homo sapiens sigma non-opioid intracellular receptor 1 (SIGMAR1), transcript variant 1, mRNA.	25					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	AGCCAGACGACCTGGGTCAGC	0.726													2	4	---	---	---	---						-	34637622	C	-	34637622	7	5	182	1	0	1	0	1	0	0	0	0	14316	507	18	0	614	0	SIGMAR1	9	34637622	Frame_Shift_Del	DEL	C	TCGA-EL-A3GW-01A-11D-A202-08		34637622	106575809	7	3157											
FANCG	2189	broad.mit.edu	37	chr9	35079474	35079474	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccggtcattcttttccctCcacaggtccaggcagctgga	10	14	2	0			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr9:35079474C>T	uc003zwb.1	-	0	540	c.48G>A	c.(46-48)tgG>tgA	p.W16*	FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Nonsense_Mutation_p.W16*	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	16					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTTTTCCCTCCACAGGTCCA	0.617			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					31	61					0	0	1	0	0	T	35079474	C	T	35079474	4	4	182	1	0	0	0	0	0	1	0	0	5668	856	30	2	1876	2	FANCG	9	35079474	Nonsense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08	441852	35079474	106133957	8	3158											
CORO2A	7464	broad.mit.edu	37	chr9	100919704	100919704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccctctgtcctgccctGcctccagagagctgtttggg	10	15	1	1			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr9:100919704G>A	uc004ayn.2	-	1	355	c.239C>T	c.(238-240)gCa>gTa	p.A80V	CORO2A_uc004ayl.3_Intron|CORO2A_uc004aym.3_Intron			Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	0					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				gtcctGCCCTGCCTCCAGAGA	0.547													18	23					0	0	1	0	0	A	100919704	G	A	100919704	3	1	182	1	0	0	0	0	1	0	0	0	3756	1334	46	2		2	CORO2A	9	100919704	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08	65840230	100919704	40293727	9	3159											
MED6	10001	broad.mit.edu	37	chr14	71051560	71051560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatccgtttttcagggggGcctttagcactcactgtctg	10	12	4	0			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr14:71051560G>A	uc010tth.2	-	7	762	c.732C>T	c.(730-732)ggC>ggT	p.G244G	MED6_uc001xmf.3_Silent_p.G237G|MED6_uc010tti.2_3'UTR	NM_005466	NP_005457	O75586	MED6_HUMAN	Homo sapiens mediator complex subunit 6 (MED6), mRNA.	237					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TTTCAGGGGGGCCTTTAGCAC	0.448													12	129					0	0	1	0	0	A	71051560	G	A	71051560	2	1	182	1	0	0	0	0	0	0	0	1	9451	1190	42	2		2	MED6	14	71051560	Silent	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		71051560	36297980	10	3160											
CHD9	80205	broad.mit.edu	37	chr16	53340255	53340255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaatgggacaccagaGtctgcttatatcttacaagg	9	8	2	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr16:53340255G>T	uc002ehb.3	+	30	6890	c.6726G>T	c.(6724-6726)gaG>gaT	p.E2242D	CHD9_uc002egy.3_Missense_Mutation_p.E2242D|CHD9_uc002ehc.3_Missense_Mutation_p.E2243D|CHD9_uc002ehf.3_Missense_Mutation_p.E1356D|CHD9_uc002ehg.2_Missense_Mutation_p.E1357D|CHD9_uc010cbw.3_Missense_Mutation_p.E308D	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2242					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGACACCAGAGTCTGCTTATA	0.408													8	31					0	0	1	0	0	T	53340255	G	T	53340255	3	4	182	1	0	0	0	0	1	0	0	0	3332	1020	36	4	6848	4	CHD9	16	53340255	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		53340255	37014498	11	3161											
MED31	51003	broad.mit.edu	37	chr17	6553725	6553725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaaattccaactccaaCtgaaaccgaagtcgatttcc	5	13	0	1			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr17:6553725C>A	uc002gdg.4	-	1	163	c.57G>T	c.(55-57)caG>caT	p.Q19H	MED31_uc002gdh.4_Non-coding_Transcript|C17orf100_uc010clp.1_5'Flank	NM_016060	NP_057144	Q9Y3C7	MED31_HUMAN	Homo sapiens mediator complex subunit 31 (MED31), mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	p.Q19*(1)		cervix(1)|endometrium(1)|large_intestine(1)	3						CCAACTCCAACTGAAACCGAA	0.348													10	108					0	0	1	0	0	A	6553725	C	A	6553725	3	1	182	1	0	0	0	0	1	0	0	0	9449	564	20	4	350	4	MED31	17	6553725	Missense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08		6553725	74641485	12	3162											
NPHS1	4868	broad.mit.edu	37	chr19	36333350	36333350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacaatgcactggtaagCgccagcctgggccagtttgg	13	12	0	0			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr19:36333350C>T	uc002oby.3	-	17	2593	c.2437G>A	c.(2437-2439)Gct>Act	p.A813T		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	813	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTGGTAAGCGCCAGCCTGG	0.572													52	70					0	0	1	0	0	T	36333350	C	T	36333350	3	4	182	1	0	0	0	0	1	0	0	0	10582	768	27	1	1336	1	NPHS1	19	36333350	Missense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08		36333350	22795633	13	3163											
PCNT	5116	broad.mit.edu	37	chr21	47783688	47783688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagaggtccttgacggaGcagcagggccgcctgcagca	16	12	0	2			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr21:47783688G>A	uc002zji.4	+	13	2555	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	PCNT_uc002zjj.3_Silent_p.E698E	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	816					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTTGACGGAGCAGCAGGGCC	0.607													3	105					0	0	1	0	0	A	47783688	G	A	47783688	2	1	182	1	0	0	0	0	0	0	0	1	11590	962	34	2		2	PCNT	21	47783688	Silent	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		47783688	346207	14	3164											
TAB3	257397	broad.mit.edu	37	chrX	30873051	30873051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacggcgtactctgaggaGtttgtcttcctgatgaactc	11	11	2	3			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chrX:30873051G>A	uc004dck.3	-	6	1278	c.731C>T	c.(730-732)aCt>aTt	p.T244I	TAB3_uc010ngl.3_Missense_Mutation_p.T244I|TAB3_uc004dcj.3_Missense_Mutation_p.T244I	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	244	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTCTGAGGAGTTTGTCTTCC	0.463													8	9					0	0	1	0	0	A	30873051	G	A	30873051	3	1	182	1	0	0	0	0	1	0	0	0	15494	1029	36	2	1431	2	TAB3	23	30873051	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		30873051	124397509	15	3165											
LAMC1	3915	broad.mit.edu	37	chr1	183087214	183087214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcctgctcttaccccTtttgaatttcagaagctcct	8	12	2	2			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr1:183087214T>C	uc001gpy.4	+	10	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641P(2)|p.P641L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTTACCCCTTTTGAATTTC	0.418													3	101					0	0	1	0	0	C	183087214	T	C	183087214	2	2	183	1	0	0	0	0	0	0	0	1	8614	1596	56	3		3	LAMC1	1	183087214	Silent	SNP	T	TCGA-EL-A3GX-01A-11D-A202-08		183087214	66163407	1	3166											
SLC3A1	6519	broad.mit.edu	37	chr2	44527120	44527120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctttaggaaattttacGgttctggctcacaaagggtg	10	7	4	0			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr2:44527120G>A	uc002ruc.4	+	4	980	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	SLC3A1_uc002rty.3_Missense_Mutation_p.R301Q|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301Q|SLC3A1_uc002rua.3_Missense_Mutation_p.R301Q|SLC3A1_uc002rub.2_Missense_Mutation_p.R301Q|SLC3A1_uc002rud.4_Missense_Mutation_p.R23Q	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	301					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GAAATTTTACGGTTCTGGCTC	0.363													24	104					0	0	1	0	0	A	44527120	G	A	44527120	3	1	183	1	0	0	0	0	1	0	0	0	14626	1116	39	1	920	1	SLC3A1	2	44527120	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		44527120	198672253	2	3167											
FETUB	26998	broad.mit.edu	37	chr3	186370224	186370224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaaattcccaggaaaAgggccctcaggaggcctttc	10	10	1	1			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr3:186370224A>G	uc010hyq.3	+	7	1214	c.953A>G	c.(952-954)aAg>aGg	p.K318R	FETUB_uc011brz.2_Missense_Mutation_p.K170R|FETUB_uc003fqn.3_Missense_Mutation_p.K318R|FETUB_uc010hyr.3_Missense_Mutation_p.K281R|FETUB_uc010hys.3_Missense_Mutation_p.K170R|FETUB_uc003fqp.4_Missense_Mutation_p.K253R	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	318						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TCCCAGGAAAAGGGCCCTCAG	0.527													3	194					0	0	1	0	0	G	186370224	A	G	186370224	3	3	183	1	0	0	0	0	1	0	0	0	5821	72	3	3	979	3	FETUB	3	186370224	Missense_Mutation	SNP	A	TCGA-EL-A3GX-01A-11D-A202-08		186370224	11652206	3	3168											
UBA6	55236	broad.mit.edu	37	chr4	68500218	68500218	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tagagtacaaaatggtatttCctcttctgggggatcccgct	10	9	2	1			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr4:68500218C>G	uc003hdg.4	-	20	1913	c.1861G>C	c.(1861-1863)Gaa>Caa	p.E621Q	UBA6_uc003hdh.1_Missense_Mutation_p.E147Q	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	621					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATGGTATTTCCTCTTCTGGG	0.328													7	47					0	0	1	0	0	G	68500218	C	G	68500218	3	3	183	1	0	0	0	0	1	0	0	0	16829	864	30	4	1349	4	UBA6	4	68500218	Missense_Mutation	SNP	C	TCGA-EL-A3GX-01A-11D-A202-08		68500218	122654058	4	3169											
ANKS1A	23294	broad.mit.edu	37	chr6	34985340	34985340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcaggcctcctccacgGctcctccccggtgtgcgagg	12	17	1	0			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr6:34985340G>A	uc003ojx.4	+	10	1656	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	ANKS1A_uc011dst.2_Missense_Mutation_p.G45D|ANKS1A_uc010jvp.2_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	505						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCCTCCACGGCTCCTCCCCG	0.701													18	38					0	0	1	0	0	A	34985340	G	A	34985340	3	1	183	1	0	0	0	0	1	0	0	0	688	1203	42	2	1556	2	ANKS1A	6	34985340	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		34985340	136129727	5	3170											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	44					0	0	1	0	0	T	140453136	A	T	140453136	3	4	183	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GX-01A-11D-A202-08		140453136	18685527	6	3171											
SLC39A14	23516	broad.mit.edu	37	chr8	22275185	22275185	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agactttgtcatcctgctcaAcgctgggatgagcatccaac	9	12	2	2			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr8:22275185A>T	uc003xbq.4	+	7	1344	c.1169A>T	c.(1168-1170)aAc>aTc	p.N390I	SLC39A14_uc011kzg.2_Missense_Mutation_p.N390I|SLC39A14_uc003xbp.4_Missense_Mutation_p.N390I|SLC39A14_uc011kzh.2_Missense_Mutation_p.N390I	NM_001128431	NP_001128625	Q15043	S39AE_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.	390						Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		ATCCTGCTCAACGCTGGGATG	0.547													61	84					0	0	1	0	0	T	22275185	A	T	22275185	3	4	183	1	0	0	0	0	1	0	0	0	14617	43	2	5	1369	5	SLC39A14	8	22275185	Missense_Mutation	SNP	A	TCGA-EL-A3GX-01A-11D-A202-08		22275185	124088837	7	3172											
GPR124	25960	broad.mit.edu	37	chr8	37698636	37698636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgtccaagccttggcgCcttctacatccctgtggctt	11	14	1	0			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr8:37698636C>T	uc003xkj.3	+	18	3166	c.2780C>T	c.(2779-2781)gCc>gTc	p.A927V	GPR124_uc010lvy.3_Missense_Mutation_p.A710V	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	927					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGCCTTGGCGCCTTCTACATC	0.627													5	186					0	0	1	0	0	T	37698636	C	T	37698636	3	4	183	1	0	0	0	0	1	0	0	0	6638	739	26	2	2833	2	GPR124	8	37698636	Missense_Mutation	SNP	C	TCGA-EL-A3GX-01A-11D-A202-08	15423451	37698636	108665386	8	3173											
PRB2	653247	broad.mit.edu	37	chr12	11546180	11546180	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggctttcctggaggtgGgggaccttgaggtttgttgc	17	6	0	1			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr12:11546180G>C	uc010shk.1	-	2	867	c.832C>G	c.(832-834)Cca>Gca	p.P278A		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTGGAGGTGGGGGACCTTGA	0.617													84	201					0	0	1	0	0	C	11546180	G	C	11546180	3	2	183	1	0	0	0	0	1	0	0	0	12443	1232	43	4	422	4	PRB2	12	11546180	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		11546180	122305715	9	3174											
CEACAM5	1048	broad.mit.edu	37	chr19	42224846	42224846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctttgttccagatggGccggacacccccatcatttc	8	14	2	1			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr19:42224846G>A	uc002orl.3	+	7	1897	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	CEACAM5_uc002orj.1_Silent_p.G591G	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	592	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTCCAGATGGGCCGGACACCC	0.557													98	147					0	0	1	0	0	A	42224846	G	A	42224846	2	1	183	1	0	0	0	0	0	0	0	1	3195	1190	42	2		2	CEACAM5	19	42224846	Silent	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		42224846	16904137	10	3175											
RNF215	200312	broad.mit.edu	37	chr22	30782087	30782089	+	In_Frame_Del	DEL	AGA	AGA	-													ccacgttgtggttcaggatgAgaagaagcagggcagaggca					rs5997629	byFrequency	TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr22:30782087_30782089delAGA	uc003ahp.3	-	2	471_473	c.471_473delTCT	c.(469-474)cttctc>ctc	p.157_158LL>L	RNF215_uc011akw.2_In_Frame_Del_p.62_63LL>L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	Homo sapiens ring finger protein 215 (RNF215), mRNA.	157						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GTTCAGGATGAGAAGAAGCAGGG	0.606													10	12	---	---	---	---						-	30782089	AGA	-	30782087	7	5	183	1	0	1	0	1	0	0	0	0	13479	304	11	0	688	0	RNF215	22	30782087	In_Frame_Del	DEL	AGA	TCGA-EL-A3GX-01A-11D-A202-08		30782087	20522479	11	3176											
MAP7D2	256714	broad.mit.edu	37	chrX	20029036	20029036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcttggggaatgtcgggGgaccagtgaaatctaagaga	14	6	2	2			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chrX:20029036G>A	uc010nfo.2	-	15	2324	c.2207C>T	c.(2206-2208)cCc>cTc	p.P736L	MAP7D2_uc004czq.2_Missense_Mutation_p.P580L|MAP7D2_uc011mji.2_Missense_Mutation_p.P643L|MAP7D2_uc004czr.2_Missense_Mutation_p.P695L|MAP7D2_uc011mjj.2_Missense_Mutation_p.P650L	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	695										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GAATGTCGGGGGACCAGTGAA	0.463													53	84					0	0	1	0	0	A	20029036	G	A	20029036	3	1	183	1	0	0	0	0	1	0	0	0	9268	1232	43	2	118	2	MAP7D2	23	20029036	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		20029036	135241524	12	3177											
NADK	65220	broad.mit.edu	37	chr1	1686902	1686902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtggaaggccatgaccGgagggacgctgccctgtgag	17	11	0	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:1686902G>A	uc001aie.3	-	8	1239	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	NADK_uc001aic.3_Missense_Mutation_p.P200L|NADK_uc001aid.4_Missense_Mutation_p.P200L|NADK_uc010nyv.2_Missense_Mutation_p.P168L|NADK_uc009vkx.1_Missense_Mutation_p.P78L	NM_001198994	NP_001185923	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 3, mRNA.	200					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCATGACCGGAGGGACGCT	0.617													4	195					0	0	1	0	0	A	1686902	G	A	1686902	3	1	184	1	0	0	0	0	1	0	0	0	10137	1116	39	1	765	1	NADK	1	1686902	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		1686902	247563719	1	3178											
LRRC42	115353	broad.mit.edu	37	chr1	54426067	54426067	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggataattgtttatctgAtgctggggtgcggaagatga	15	3	1	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:54426067A>T	uc001cwj.1	+	3	844	c.644A>T	c.(643-645)gAt>gTt	p.D215V	LRRC42_uc001cwk.1_Missense_Mutation_p.D215V	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	215										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTTATCTGATGCTGGGGTG	0.368													22	140					0	0	1	0	0	T	54426067	A	T	54426067	3	4	184	1	0	0	0	0	1	0	0	0	9000	333	12	5	654	5	LRRC42	1	54426067	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	52739165	54426067	194824554	2	3179											
MAGI3	260425	broad.mit.edu	37	chr1	114196558	114196558	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcctgcaccccaggagccCtatgatgttgtcttgcaacg	11	13	1	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:114196558C>A	uc001edk.3	+	14	2728	c.2547C>A	c.(2545-2547)ccC>ccA	p.P849P	MAGI3_uc001edh.3_Silent_p.P874P|MAGI3_uc001edi.4_Silent_p.P849P|MAGI3_uc010owm.2_Silent_p.P874P|MAGI3_uc001edj.3_Silent_p.P570P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	874					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAGGAGCCCTATGATGTTG	0.522													5	429					0	0	1	0	0	A	114196558	C	A	114196558	2	1	184	1	0	0	0	0	0	0	0	1	9192	668	24	4		4	MAGI3	1	114196558	Silent	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08	59770491	114196558	135054063	3	3180											
CD48	962	broad.mit.edu	37	chr1	160651146	160651146	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaagggccttttgtccccAtaccaggtgtagtttacaga	12	9	0	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:160651146A>G	uc001fwo.1	-	2	530	c.498T>C	c.(496-498)taT>taC	p.Y166Y	CD48_uc001fwn.3_Silent_p.Y166Y	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	166	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTTTGTCCCCATACCAGGTGT	0.448													4	230					0	0	1	0	0	G	160651146	A	G	160651146	2	3	184	1	0	0	0	0	0	0	0	1	3020	224	8	3		3	CD48	1	160651146	Silent	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	46454588	160651146	88599475	4	3181											
PM20D1	148811	broad.mit.edu	37	chr1	205814502	205814502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgaccatagatgatgccaTcacgctccaacccagagaat	7	15	1	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:205814502T>C	uc001hdj.3	-	2	516	c.440A>G	c.(439-441)gAt>gGt	p.D147G	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	147						extracellular region	metal ion binding|peptidase activity	p.R146C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGATGCCATCACGCTCCAA	0.567													4	172					0	0	1	0	0	C	205814502	T	C	205814502	3	2	184	1	0	0	0	0	1	0	0	0	12128	1435	50	3	1112	3	PM20D1	1	205814502	Missense_Mutation	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08	45163356	205814502	43436119	5	3182											
MBOAT2	129642	broad.mit.edu	37	chr2	9083336	9083336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcatgttctccactccTatgatgatcatgatacagta	7	9	2	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr2:9083336T>C	uc002qzg.1	-	2	412	c.279A>G	c.(277-279)atA>atG	p.I93M	MBOAT2_uc010yix.1_Missense_Mutation_p.I93M	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.	93					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCCACTCCTATGATGATCA	0.318													3	105					0	0	1	0	0	C	9083336	T	C	9083336	3	2	184	1	0	0	0	0	1	0	0	0	9357	1512	53	3	1327	3	MBOAT2	2	9083336	Missense_Mutation	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08		9083336	234116037	6	3183											
USP34	9736	broad.mit.edu	37	chr2	61417450	61417450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatttcaactcggttggAgaaatcagactgtaggttct	11	6	3	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr2:61417450A>G	uc002sbe.3	-	77	9851	c.9829T>C	c.(9829-9831)Tcc>Ccc	p.S3277P	USP34_uc002sbd.3_Missense_Mutation_p.S79P	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3277					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACTCGGTTGGAGAAATCAGAC	0.408													3	148					0	0	1	0	0	G	61417450	A	G	61417450	3	3	184	1	0	0	0	0	1	0	0	0	17062	304	11	3	823	3	USP34	2	61417450	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	52334114	61417450	181781923	7	3184											
ATP13A4	84239	broad.mit.edu	37	chr3	193120598	193120598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatactggctttttgactgaTagccgaaacatcttttaatc	7	8	1	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr3:193120598T>C	uc003ftd.3	-	29	3542	c.3434A>G	c.(3433-3435)tAt>tGt	p.Y1145C	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1145					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.G1144D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTTGACTGATAGCCGAAACA	0.443													3	71					0	0	1	0	0	C	193120598	T	C	193120598	3	2	184	1	0	0	0	0	1	0	0	0	1126	1406	49	3	160	3	ATP13A4	3	193120598	Missense_Mutation	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08		193120598	4901832	8	3185											
UGT2A1	10941	broad.mit.edu	37	chr4	70505149	70505149	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagaatcgggattggagttGatgaatagagttgctgatga	16	2	0	6			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr4:70505149G>A	uc011caq.2	-	2	929	c.813C>T	c.(811-813)atC>atT	p.I271I	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Silent_p.I70I|UGT2A1_uc021xox.1_Silent_p.I70I|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	61					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GATTGGAGTTGATGAATAGAG	0.358													8	133					0	0	1	0	0	A	70505149	G	A	70505149	2	1	184	1	0	0	0	0	0	0	0	1	16950	1280	45	2		2	UGT2A1	4	70505149	Silent	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		70505149	120649127	9	3186											
PCDHGC5	56097	broad.mit.edu	37	chr5	140745315	140745315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagaggtgtctctatcttctCtgtgacagcccatgaccccg	9	14	3	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr5:140745315C>G	uc003lju.2	+	0	1418	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.S473C	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	475	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATCTTCTCTGTGACAGCC	0.532													16	275					0	0	1	0	0	G	140745315	C	G	140745315	3	3	184	1	0	0	0	0	1	0	0	0	11571	913	32	4		4	PCDHGC5	5	140745315	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08		140745315	40169945	10	3187											
BTN2A1	11120	broad.mit.edu	37	chr6	26465519	26465519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattggatcaacaaactccaAaaggaaaaaaagattctgtc	6	7	2	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr6:26465519A>T	uc003nib.2	+	4	1067	c.819A>T	c.(817-819)caA>caT	p.Q273H	BTN2A1_uc021yni.1_Missense_Mutation_p.Q273H|BTN2A1_uc003nic.2_Missense_Mutation_p.Q273H|BTN2A1_uc011dko.2_Missense_Mutation_p.Q212H	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	273					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ACAAACTCCAAAAGGAAAAAA	0.433													11	166					0	0	1	0	0	T	26465519	A	T	26465519	3	4	184	1	0	0	0	0	1	0	0	0	1560	11	1	5	833	5	BTN2A1	6	26465519	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		26465519	144649548	11	3188											
ETV1	2115	broad.mit.edu	37	chr7	13971268	13971268	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagccttgtggtgggaaggGgatgtttggctcagacatct	15	6	2	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr7:13971268G>C	uc021zzz.1	-	6	748	c.661C>G	c.(661-663)Ccc>Gcc	p.P221A	ETV1_uc021zzt.1_Missense_Mutation_p.P181A|ETV1_uc021zzu.1_Missense_Mutation_p.P118A|ETV1_uc021zzv.1_Missense_Mutation_p.P163A|ETV1_uc021zzw.1_Missense_Mutation_p.P181A|ETV1_uc021zzx.1_Missense_Mutation_p.P118A|ETV1_uc021zzy.1_Missense_Mutation_p.P163A|ETV1_uc022aaa.1_Missense_Mutation_p.P203A|ETV1_uc022aab.1_Missense_Mutation_p.P221A|ETV1_uc003ssw.4_Missense_Mutation_p.P221A|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P203A|ETV1_uc022aad.1_Missense_Mutation_p.P203A|ETV1_uc010ktv.3_Missense_Mutation_p.P90A	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	221					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGGGAAGGGGATGTTTGGC	0.552			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								5	58					0	0	1	0	0	C	13971268	G	C	13971268	3	2	184	1	0	0	0	0	1	0	0	0	5277	1232	43	4	796	4	ETV1	7	13971268	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		13971268	145167395	12	3189											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	63					0	0	1	0	0	T	140453136	A	T	140453136	3	4	184	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	126481868	140453136	18685527	13	3190											
NBN	4683	broad.mit.edu	37	chr8	90958472	90958472	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatctaaattcagtcaAtaacagcttttttggaagca	7	7	3	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:90958472A>G	uc003yej.1	-	12	2076	c.1966T>C	c.(1966-1968)Ttg>Ctg	p.L656L	NBN_uc011lgb.1_Silent_p.L656L|NBN_uc003yei.1_Silent_p.L574L	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	656					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATTCAGTCAATAACAGCTTT	0.318								Homologous recombination					4	146					0	0	1	0	0	G	90958472	A	G	90958472	2	3	184	1	0	0	0	0	0	0	0	1	10191	98	4	3		3	NBN	8	90958472	Silent	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		90958472	55405550	14	3191											
EIF2C2	27161	broad.mit.edu	37	chr8	141549494	141549494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggtgatcccgggctgGtagtctttttctagcttgat	12	7	2	3			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:141549494G>A	uc003yvn.3	-	15	2135	c.2094C>T	c.(2092-2094)taC>taT	p.Y698Y	EIF2C2_uc010meo.3_Silent_p.Y698Y|EIF2C2_uc010men.3_Silent_p.Y621Y	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	698	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TCCCGGGCTGGTAGTCTTTTT	0.557													11	105					0	0	1	0	0	A	141549494	G	A	141549494	2	1	184	1	0	0	0	0	0	0	0	1	5006	1256	44	2		2	EIF2C2	8	141549494	Silent	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08	50591022	141549494	4814528	15	3192											
ABL1	25	broad.mit.edu	37	chr9	133753888	133753888	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccaggtgtatgagctgctaGagaaggactaccgcatggag	14	9	0	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr9:133753888G>A	uc004bzv.3	+	7	1853	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	ABL1_uc004bzw.3_Missense_Mutation_p.E453K	NM_007313	NP_009297	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant b, mRNA.	453	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.E453Q(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGAGCTGCTAGAGAAGGACTA	0.507			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								5	303					0	0	1	0	0	A	133753888	G	A	133753888	3	1	184	1	0	0	0	0	1	0	0	0	92	943	33	2	1527	2	ABL1	9	133753888	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		133753888	7459543	16	3193											
ITGB1	3688	broad.mit.edu	37	chr10	33215004	33215004	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgttgtgctaatgtaaGgcatcacagtcttttccaca	9	9	2	0			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr10:33215004G>C	uc001iwr.4	-	4	581	c.581C>G	c.(580-582)cCt>cGt	p.P194R	ITGB1_uc001iws.4_Missense_Mutation_p.P194R|ITGB1_uc001iwt.4_Missense_Mutation_p.P194R	NM_033668	NP_391988	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1D, mRNA.	194	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GCTAATGTAAGGCATCACAGT	0.403													6	108					0	0	1	0	0	C	33215004	G	C	33215004	3	2	184	1	0	0	0	0	1	0	0	0	7890	1000	35	4	2097	4	ITGB1	10	33215004	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		33215004	102319743	17	3194											
DLAT	1737	broad.mit.edu	37	chr11	111933176	111933176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacactcagttgtgatcacCgggtggtggatggagcagtt	14	7	2	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr11:111933176C>T	uc001pmo.3	+	13	2520	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	DLAT_uc010rwr.2_Missense_Mutation_p.R494W|DLAT_uc021qqn.1_Missense_Mutation_p.R565W	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	621	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TTGTGATCACCGGGTGGTGGA	0.388													4	212					0	0	1	0	0	T	111933176	C	T	111933176	3	4	184	1	0	0	0	0	1	0	0	0	4549	643	23	1	1915	1	DLAT	11	111933176	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08		111933176	23073340	18	3195											
HMGB1	3146	broad.mit.edu	37	chr13	31035567	31035569	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcatcctcttcatctTcctcatcttcctcctcttcc							TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr13:31035567_31035569delTCC	uc001usz.3	-	4	745_747	c.573_575delGGA	c.(571-576)gaggaa>gaa	p.191_192EE>E	HMGB1_uc001usv.3_3'UTR|HMGB1_uc001usx.3_In_Frame_Del_p.191_192EE>E|HMGB1_uc001usy.3_In_Frame_Del_p.152_153EE>E|HMGB1_uc001uta.1_3'UTR	NM_002128	NP_002119	P09429	HMGB1_HUMAN	Homo sapiens high mobility group box 1 (HMGB1), mRNA.	191	Asp/Glu-rich (acidic).				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|dendritic cell chemotaxis|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of DNA binding|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	DNA bending activity|RAGE receptor binding|chemoattractant activity|cytokine activity|damaged DNA binding|double-stranded DNA binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		ctcttcatcttcctcatcttcct	0.399													4	4	---	---	---	---						-	31035569	TCC	-	31035567	7	5	184	1	0	1	0	1	0	0	0	0	7225	1783	62	0	76	0	HMGB1	13	31035567	In_Frame_Del	DEL	TCC	TCGA-EL-A3GY-01A-21D-A202-08		31035567	84134311	19	3196											
NRXN3	9369	broad.mit.edu	37	chr14	79933743	79933743	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttcctccagcttcacAtagtgagtacagggccttgg	11	11	1	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr14:79933743A>T	uc001xun.3	+	12	2814	c.2323A>T	c.(2323-2325)Ata>Tta	p.I775L	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.I143L|NRXN3_uc010asw.3_Missense_Mutation_p.I143L|NRXN3_uc001xur.4_Missense_Mutation_p.I143L	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	143					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCAGCTTCACATAGTGAGTAC	0.512													20	93					0	0	1	0	0	T	79933743	A	T	79933743	3	4	184	1	0	0	0	0	1	0	0	0	10667	217	8	5	2616	5	NRXN3	14	79933743	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		79933743	27415797	20	3197											
MAP1A	4130	broad.mit.edu	37	chr15	43816306	43816306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacaagcatcccttcctccCgtactgaagctacgcagggc	8	16	1	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:43816306C>A	uc001zrt.3	+	3	3102	c.2635C>A	c.(2635-2637)Cgt>Agt	p.R879S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	879						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCTTCCTCCCGTACTGAAGC	0.562													5	109					0	0	1	0	0	A	43816306	C	A	43816306	3	1	184	1	0	0	0	0	1	0	0	0	9227	652	23	4	2637	4	MAP1A	15	43816306	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08		43816306	58715086	21	3198											
CYP11A1	1583	broad.mit.edu	37	chr15	74659919	74659919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgggggaagacccttgGccagcatgctgtccccacag	14	13	0	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:74659919G>C	uc002axt.2	-	0	163	c.8C>G	c.(7-9)gCc>gGc	p.A3G	CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Missense_Mutation_p.A3G	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	3					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AAGACCCTTGGCCAGCATGCT	0.627													9	38					0	0	1	0	0	C	74659919	G	C	74659919	3	2	184	1	0	0	0	0	1	0	0	0	4144	1203	42	4	1593	4	CYP11A1	15	74659919	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08	30843613	74659919	27871473	22	3199											
TM2D3	80213	broad.mit.edu	37	chr15	102182710	102182710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaagagccatctgctggtCcaacatagccaactccaatg	7	13	1	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:102182710C>T	uc002bxi.3	-	5	746	c.716G>A	c.(715-717)gGa>gAa	p.G239E	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.3_Missense_Mutation_p.G174E|TM2D3_uc002bxj.3_Missense_Mutation_p.G213E	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA.	239						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCTGCTGGTCCAACATAGCC	0.537													8	178					0	0	1	0	0	T	102182710	C	T	102182710	3	4	184	1	0	0	0	0	1	0	0	0	15962	855	30	2	31	2	TM2D3	15	102182710	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08	27522791	102182710	348682	23	3200											
STX4	6810	broad.mit.edu	37	chr16	31050875	31050875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagggggagatgatcaAtcggattgagaagaacatcc	14	6	1	5			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr16:31050875A>G	uc002eal.3	+	8	940	c.716A>G	c.(715-717)aAt>aGt	p.N239S	STX4_uc002eak.3_Missense_Mutation_p.N237S|STX4_uc002eam.3_Missense_Mutation_p.N161S|BC039500_uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	239	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GAGATGATCAATCGGATTGAG	0.567													7	145					0	0	1	0	0	G	31050875	A	G	31050875	3	3	184	1	0	0	0	0	1	0	0	0	15346	101	4	3	750	3	STX4	16	31050875	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		31050875	59303878	24	3201											
MYO18A	399687	broad.mit.edu	37	chr17	27425124	27425124	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccaggccctgccctcaccTgcagttccttcatctccttc	5	20	3	0			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr17:27425124T>G	uc002hdt.1	-	25	4148	c.3990_splice	c.e25+1	p.Q1330_splice	MYO18A_uc010wbc.1_Splice_Site_p.Q872_splice|MYO18A_uc002hds.2_Splice_Site_p.Q872_splice|MYO18A_uc010csa.1_Splice_Site_p.Q1330_splice|MYO18A_uc002hdu.1_Splice_Site_p.Q1330_splice|MYO18A_uc010wbd.1_Splice_Site_p.Q999_splice	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1330					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCCCTCACCTGCAGTTCCTT	0.612													10	249					0	0	1	0	0	G	27425124	T	G	27425124	5	3	184	1	0	0	0	0	0	0	1	0	10065	1594	55	5	2247	5	MYO18A	17	27425124	Splice_Site	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08		27425124	53770086	25	3202											
GPATCH8	23131	broad.mit.edu	37	chr17	42478100	42478100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgctccttggcttgctgCcgccttgatgcagcttttag	10	12	1	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr17:42478100C>T	uc002igw.2	-	7	1564	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	GPATCH8_uc002igv.2_Missense_Mutation_p.A371T|GPATCH8_uc010wiz.2_Missense_Mutation_p.A371T	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	449						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGCTTGCTGCCGCCTTGATG	0.502											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	296					0	0	1	0	0	T	42478100	C	T	42478100	3	4	184	1	0	0	0	0	1	0	0	0	6594	739	26	2	3167	2	GPATCH8	17	42478100	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08	15052976	42478100	38717110	26	3203											
ZNRF4	148066	broad.mit.edu	37	chr19	5455622	5455622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgcgtcctggccacagGccccctgggagaccccggag	13	19	0	1			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr19:5455622G>A	uc002mca.4	+	0	197	c.120G>A	c.(118-120)agG>agA	p.R40R		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	40						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGGCCACAGGCCCCCTGGGA	0.657													4	79					0	0	1	0	0	A	5455622	G	A	5455622	2	1	184	1	0	0	0	0	0	0	0	1	18211	1194	42	2		2	ZNRF4	19	5455622	Silent	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		5455622	53673361	27	3204											
TRIP10	9322	broad.mit.edu	37	chr19	6741105	6741105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttcgtgaaagaacgcaccGaagtggaacaggcttacgcc	12	10	0	2			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr19:6741105G>A	uc002mfs.3	+	1	175	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	TRIP10_uc010dux.2_Missense_Mutation_p.E37K|TRIP10_uc002mfr.3_Missense_Mutation_p.E37K|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	37	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGAACGCACCGAAGTGGAACA	0.627													4	100					0	0	1	0	0	A	6741105	G	A	6741105	3	1	184	1	0	0	0	0	1	0	0	0	16551	1059	37	1	115	1	TRIP10	19	6741105	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08	1285483	6741105	52387878	28	3205											
LEFTY1	10637	broad.mit.edu	37	chr1	226075322	226075322	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaggccttccagccgctctCgtggacggacaccagcctga	12	15	1	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr1:226075322C>A	uc001hpo.3	-	2	594	c.514G>T	c.(514-516)Gag>Tag	p.E172*	PYCR2_uc010pvj.2_Missense_Mutation_p.R280L|LEFTY1_uc009xej.2_3'UTR	NM_020997	NP_066277	O75610	LFTY1_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	172					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	p.E172D(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CAGCCGCTCTCGTGGACGGAC	0.711													3	63					0	0	1	0	0	A	226075322	C	A	226075322	4	1	185	1	0	0	0	0	0	1	0	0	8715	893	31	4	594	4	LEFTY1	1	226075322	Nonsense_Mutation	SNP	C	TCGA-EL-A3GZ-01A-11D-A20C-08		226075322	23175299	1	3206											
SLC8A1	6546	broad.mit.edu	37	chr2	40656897	40656897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaacatattgaatgcaGcacttcccacgatggtgcta	9	9	0	3			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:40656897G>A	uc002rrx.3	-	0	548	c.524C>T	c.(523-525)gCt>gTt	p.A175V	SLC8A1_uc002rry.3_Missense_Mutation_p.A175V|SLC8A1_uc002rsb.2_Missense_Mutation_p.A175V|SLC8A1_uc002rrz.3_Missense_Mutation_p.A175V|SLC8A1_uc002rsa.3_Missense_Mutation_p.A175V|SLC8A1_uc002rsd.4_Missense_Mutation_p.A175V|SLC8A1_uc010fan.1_Missense_Mutation_p.A175V|SLC8A1_uc002rsc.1_Missense_Mutation_p.A175V	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	175					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTGAATGCAGCACTTCCCAC	0.463													3	77					0	0	1	0	0	A	40656897	G	A	40656897	3	1	185	1	0	0	0	0	1	0	0	0	14706	971	34	2	2545	2	SLC8A1	2	40656897	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		40656897	202542476	2	3207											
MSH2	4436	broad.mit.edu	37	chr2	47656952	47656952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaagaagatttacttcgtcGattcccagatcttaaccgac	6	11	1	3			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:47656952G>T	uc002rvz.3	+	6	1216	c.1148G>T	c.(1147-1149)cGa>cTa	p.R383L	MSH2_uc010yoh.1_Missense_Mutation_p.R317L|MSH2_uc002rvy.1_Missense_Mutation_p.R383L|MSH2_uc010fbg.2_Missense_Mutation_p.R193L	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	383					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)|p.R383*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACTTCGTCGATTCCCAGAT	0.343			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				37	74					0	0	1	0	0	T	47656952	G	T	47656952	3	4	185	1	0	0	0	0	1	0	0	0	9870	1058	37	4	1174	4	MSH2	2	47656952	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08	7000055	47656952	195542421	3	3208											
NRG2	9542	broad.mit.edu	37	chr5	139260543	139260543	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcaccttgttgaactGtagtcgtgagttctttctgg	9	10	3	2			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr5:139260543G>A	uc003lev.2	-	2	1119	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	NRG2_uc003lew.2_Nonsense_Mutation_p.Q297*|NRG2_uc003lex.2_Nonsense_Mutation_p.Q297*|NRG2_uc003ley.2_Nonsense_Mutation_p.Q297*|NRG2_uc021yed.1_Nonsense_Mutation_p.Q297*	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	297	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTGAACTGTAGTCGTGAG	0.612													5	104					0	0	1	0	0	A	139260543	G	A	139260543	4	1	185	1	0	0	0	0	0	1	0	0	10648	1386	48	2	1786	2	NRG2	5	139260543	Nonsense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		139260543	41654717	4	3209											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26124113	26124113	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccttcttcggggcgggagcaGacttggctggctcaggcatc	15	12	2	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr6:26124113G>C	uc003ngk.4	-	0	42	c.20C>G	c.(19-21)tCt>tGt	p.S7C	HIST1H2BC_uc003ngl.3_Missense_Mutation_p.S7C|HIST1H2AC_uc003ngm.3_5'Flank|HIST1H2AC_uc003ngo.3_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bc (HIST1H2BC), mRNA.	7					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.K6N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GGCGGGAGCAGACTTGGCTGG	0.507													54	77					0	0	1	0	0	C	26124113	G	C	26124113	3	2	185	1	0	0	0	0	1	0	0	0	7142	942	33	4	364	4	HIST1H2BC	6	26124113	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		26124113	144990954	5	3210											
PODXL	5420	broad.mit.edu	37	chr7	131195717	131195717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaggatgcgtcgaagtGggttgtcgggggctaagtgg	19	7	0	0			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr7:131195717G>A	uc003vqw.4	-	1	834	c.576C>T	c.(574-576)ccC>ccT	p.P192P	PODXL_uc003vqx.4_Silent_p.P192P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	192	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCGTCGAAGTGGGTTGTCGGG	0.542													37	77					0	0	1	0	0	A	131195717	G	A	131195717	2	1	185	1	0	0	0	0	0	0	0	1	12180	1335	47	2		2	PODXL	7	131195717	Silent	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		131195717	27942946	6	3211											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	70					0	0	1	0	0	T	140453136	A	T	140453136	3	4	185	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GZ-01A-11D-A20C-08	9257419	140453136	18685527	7	3212											
ACBD5	91452	broad.mit.edu	37	chr10	27529319	27529319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcacggatctcgtgtccGccatctccagctgccagtgt	11	15	2	0			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr10:27529319G>A	uc010qdp.2	-	1	301	c.110C>T	c.(109-111)gCg>gTg	p.A37V	ACBD5_uc010qdm.2_Missense_Mutation_p.A35V|ACBD5_uc010qdn.2_5'UTR|ACBD5_uc010qdo.2_5'UTR|ACBD5_uc001ito.3_Missense_Mutation_p.A2V|ACBD5_uc001itp.3_5'UTR|ACBD5_uc001itq.3_5'UTR|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_001035938	Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 1, mRNA.	35					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCTCGTGTCCGCCATCTCCAG	0.612													4	120					0	0	1	0	0	A	27529319	G	A	27529319	3	1	185	1	0	0	0	0	1	0	0	0	125	1087	38	1	1515	1	ACBD5	10	27529319	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		27529319	108005428	8	3213											
HTR3A	3359	broad.mit.edu	37	chr11	113860392	113860392	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcgcgtgggctccgtGctggacaagctgctattcca	14	12	0	0			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr11:113860392G>T	uc010rxb.2	+	7	1691	c.1458G>T	c.(1456-1458)gtG>gtT	p.V486V	HTR3A_uc010rxa.2_Silent_p.V454V|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.V433V	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	448					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGGGCTCCGTGCTGGACAAGC	0.592													56	120					0	0	1	0	0	T	113860392	G	T	113860392	2	4	185	1	0	0	0	0	0	0	0	1	7444	1306	46	4		4	HTR3A	11	113860392	Silent	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		113860392	21146124	9	3214											
PPP4C	5531	broad.mit.edu	37	chr16	30095000	30095000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgtgcacgggggcctcTccccctccatccagaccctg	10	19	2	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr16:30095000T>C	uc002dwe.3	+	6	637	c.502T>C	c.(502-504)Tcc>Ccc	p.S168P	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.S168P	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	168					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CGGGGGCCTCTCCCCCTCCAT	0.622													3	135					0	0	1	0	0	C	30095000	T	C	30095000	3	2	185	1	0	0	0	0	1	0	0	0	12402	1551	54	3	524	3	PPP4C	16	30095000	Missense_Mutation	SNP	T	TCGA-EL-A3GZ-01A-11D-A20C-08		30095000	60259753	10	3215											
ELFN2	114794	broad.mit.edu	37	chr22	37771091	37771091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgtccaggcggctgaggcGgttggaggacaggtcgatgc	18	10	0	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr22:37771091G>T	uc003asq.4	-	2	1270	c.484C>A	c.(484-486)Cgc>Agc	p.R162S	ELFN2_uc021wph.1_Missense_Mutation_p.R162S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	162						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGGCTGAGGCGGTTGGAGGAC	0.637													65	105					0	0	1	0	0	T	37771091	G	T	37771091	3	4	185	1	0	0	0	0	1	0	0	0	5058	1116	39	4	1982	4	ELFN2	22	37771091	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		37771091	13533475	11	3216											
ESX1	80712	broad.mit.edu	37	chrX	103495055	103495055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgccatgggcggcccggGtggcagaggcgccatgggcg	21	12	0	1			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chrX:103495055G>A	uc004ely.3	-	3	1144	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	359	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGCGGCCCGGGTGGCAGAGGC	0.756													5	9					0	0	1	0	0	A	103495055	G	A	103495055	3	1	185	1	0	0	0	0	1	0	0	0	5263	1261	44	2	149	2	ESX1	23	103495055	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		103495055	51775505	12	3217											
GBP5	115362	broad.mit.edu	37	chr1	89732216	89732216	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagcatttcttttttggaaaGaacttctgtatacacagacg	7	7	2	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:89732216G>C	uc001dnc.3	-	6	1218	c.681C>G	c.(679-681)ttC>ttG	p.F227L	GBP5_uc001dnd.3_Missense_Mutation_p.F227L|GBP5_uc001dne.1_Missense_Mutation_p.F227L	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	227						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTTTTGGAAAGAACTTCTGTA	0.368													15	16					0	0	1	0	0	C	89732216	G	C	89732216	3	2	186	1	0	0	0	0	1	0	0	0	6277	933	33	4	1103	4	GBP5	1	89732216	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		89732216	159518405	1	3218											
GJA8	2703	broad.mit.edu	37	chr1	147381186	147381186	+	Frame_Shift_Del	DEL	G	G	-													gagaaggtggccgtgccagaGggggagaaagtagagacccc					rs145146702	byFrequency	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:147381186delG	uc001epu.2	+	1	1157	c.1104delG	c.(1102-1104)gagfs	p.E368fs	GJA8_uc021ovm.1_Frame_Shift_Del_p.E368fs	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	368					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.E368D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGTGCCAGAGGGGGAGAAAG	0.612													2	4	---	---	---	---						-	147381186	G	-	147381186	7	5	186	1	0	1	0	1	0	0	0	0	6405	991	35	0	1106	0	GJA8	1	147381186	Frame_Shift_Del	DEL	G	TCGA-EL-A3H1-01A-11D-A21A-08	57648970	147381186	101869435	2	3219											
ABCG5	64240	broad.mit.edu	37	chr2	44055183	44055183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcacccgtggaaatgccCcccaagctgtagttgccaat	9	15	1	0			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:44055183C>T	uc002rtn.3	-	4	713	c.573G>A	c.(571-573)ggG>ggA	p.G191G	ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Silent_p.G110G|ABCG5_uc002rtp.3_5'UTR	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	191	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGAAATGCCCCCCAAGCTGT	0.592													10	54					0	0	1	0	0	T	44055183	C	T	44055183	2	4	186	1	0	0	0	0	0	0	0	1	71	610	22	2		2	ABCG5	2	44055183	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		44055183	199144190	3	3220											
SLC9A2	6549	broad.mit.edu	37	chr2	103324773	103324773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaccccacagcagagaaaAgggcacccagacgtcaggct	10	14	1	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:103324773A>G	uc002tca.3	+	11	2406	c.2264A>G	c.(2263-2265)aAg>aGg	p.K755R		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	755						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.E754K(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCAGAGAAAAGGGCACCCAG	0.532													3	107					0	0	1	0	0	G	103324773	A	G	103324773	3	3	186	1	0	0	0	0	1	0	0	0	14712	72	3	3	2310	3	SLC9A2	2	103324773	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08	59269590	103324773	139874600	4	3221											
SCN3A	6328	broad.mit.edu	37	chr2	165947659	165947659	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gacatcccaaagatggcataGataaacatgaccaggaagag	10	8	0	4			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:165947659G>C	uc002ucx.3	-	27	5496	c.5004C>G	c.(5002-5004)atC>atG	p.I1668M	SCN3A_uc010zcy.2_Missense_Mutation_p.I151M|SCN3A_uc002ucy.3_Missense_Mutation_p.I1619M|SCN3A_uc002ucz.3_Missense_Mutation_p.I1619M	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1668						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGATGGCATAGATAAACATGA	0.458													31	39					0	0	1	0	0	C	165947659	G	C	165947659	3	2	186	1	0	0	0	0	1	0	0	0	13918	932	33	4	1002	4	SCN3A	2	165947659	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	62622886	165947659	77251714	5	3222											
ANKMY1	51281	broad.mit.edu	37	chr2	241447070	241447070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcctttggtcaggggcagGttggggtcagctccctgggt	17	9	2	0			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:241447070G>T	uc010fzd.1	-	12	2558	c.2433C>A	c.(2431-2433)aaC>aaA	p.N811K	ANKMY1_uc002vzb.1_Missense_Mutation_p.N483K|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.N722K|ANKMY1_uc002vza.1_Missense_Mutation_p.N498K|ANKMY1_uc002vzd.1_Missense_Mutation_p.N545K	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	722							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCAGGGGCAGGTTGGGGTCAG	0.592													20	20					0	0	1	0	0	T	241447070	G	T	241447070	3	4	186	1	0	0	0	0	1	0	0	0	634	1252	44	4	683	4	ANKMY1	2	241447070	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	75499411	241447070	1752303	6	3223											
LMOD3	56203	broad.mit.edu	37	chr3	69171306	69171306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcgcctggatgccttttCccaatacatataatcaacaa	5	12	1	0			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr3:69171306C>T	uc003dns.2	-	0	441	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	LMOD3_uc003dnt.2_Missense_Mutation_p.E78K	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	78						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GATGCCTTTTCCCAATACATA	0.463													3	2					0	0	1	0	0	T	69171306	C	T	69171306	3	4	186	1	0	0	0	0	1	0	0	0	8858	864	30	2	1462	2	LMOD3	3	69171306	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		69171306	128851124	7	3224											
MUC7	4589	broad.mit.edu	37	chr4	71346615	71346615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacattatcctggactgCtagctcaccagaagccgttc	7	14	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr4:71346615C>T	uc011cat.2	+	3	442	c.154C>T	c.(154-156)Cta>Tta	p.L52L	MUC7_uc011cau.2_Silent_p.L52L|MUC7_uc003hfj.3_Silent_p.L52L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	52						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCCTGGACTGCTAGCTCACCA	0.458													4	98					0	0	1	0	0	T	71346615	C	T	71346615	2	4	186	1	0	0	0	0	0	0	0	1	9981	796	28	2		2	MUC7	4	71346615	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		71346615	119807661	8	3225											
GPR98	84059	broad.mit.edu	37	chr5	90087090	90087090	+	Frame_Shift_Del	DEL	A	A	-													agaacagccgattgttaccgAaaatgcagagaggcagctgg							TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:90087090delA	uc003kju.3	+	69	14540	c.14444delA	c.(14443-14445)gaafs	p.E4815fs	GPR98_uc003kjt.3_Frame_Shift_Del_p.E2521fs|GPR98_uc003kjw.3_Frame_Shift_Del_p.E476fs	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4815					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTTACCGAAAATGCAGAG	0.448													2	4	---	---	---	---						-	90087090	A	-	90087090	7	5	186	1	0	1	0	1	0	0	0	0	6721	246	9	0	14722	0	GPR98	5	90087090	Frame_Shift_Del	DEL	A	TCGA-EL-A3H1-01A-11D-A21A-08		90087090	90828170	9	3226											
GPR151	134391	broad.mit.edu	37	chr5	145895223	145895223	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcactgaccagatggtgtAgttgtggatactcacttgct	11	9	1	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:145895223A>C	uc003lod.1	-	0	454	c.454T>G	c.(454-456)Tac>Gac	p.Y152D		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	152						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATGGTGTAGTTGTGGATA	0.527													52	82					0	0	1	0	0	C	145895223	A	C	145895223	3	2	186	1	0	0	0	0	1	0	0	0	6657	420	15	5	809	5	GPR151	5	145895223	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08	55808133	145895223	35020037	10	3227											
CALD1	800	broad.mit.edu	37	chr7	134618624	134618625	+	Frame_Shift_Ins	INS	-	-	C													aagagaaaagggcagcagagINSgagaggcaaagggccagggc							TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr7:134618624_134618625insC	uc003vrz.3	+	4	1570_1571	c.1104_1105insC	c.(1102-1107)gaggagfs	p.E368fs	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Frame_Shift_Ins_p.E232fs	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	368	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gggcagcagaggagaggCAAAG	0.505													2	4	---	---	---	---						C	134618625	-	C	134618624	7	5	186	1	0	1	1	0	0	0	0	0	2581	991	35	0	1171	0	CALD1	7	134618624	Frame_Shift_Ins	INS	-	TCGA-EL-A3H1-01A-11D-A21A-08		134618624	24520039	11	3228											
BRF2	55290	broad.mit.edu	37	chr8	37704689	37704689	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaggtctctcactcgccgGagacctaggaaaaacccacg	9	14	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:37704689G>A	uc003xkk.3	-	2	349	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	73					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TCACTCGCCGGAGACCTAGGA	0.498													18	25					0	0	1	0	0	A	37704689	G	A	37704689	2	1	186	1	0	0	0	0	0	0	0	1	1511	1161	41	2		2	BRF2	8	37704689	Silent	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		37704689	108659333	12	3229											
TG	7038	broad.mit.edu	37	chr8	133978928	133978929	+	Frame_Shift_Ins	INS	-	-	A													tcagcccagcaggcaaacctINSatggtgcctttctcgtaagt							TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:133978928_133978929insA	uc003ytw.3	+	29	5713_5714	c.5672_5673insA	c.(5671-5673)ctafs	p.L1891fs	TG_uc010mdw.3_Frame_Shift_Ins_p.L650fs|TG_uc011ljb.2_Frame_Shift_Ins_p.L260fs|TG_uc011ljc.2_Frame_Shift_Ins_p.L45fs|TG_uc010mdx.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1891					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGGCAAACCTATGGTGCCTTT	0.48													26	34	---	---	---	---						A	133978929	-	A	133978928	7	5	186	1	0	1	1	0	0	0	0	0	15810	1522	53	0	5790	0	TG	8	133978928	Frame_Shift_Ins	INS	-	TCGA-EL-A3H1-01A-11D-A21A-08	96274239	133978928	12385094	13	3230											
SH2D3C	10044	broad.mit.edu	37	chr9	130506914	130506914	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcagctccttgacctTgcgcagaaggcccacctcca	9	17	0	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr9:130506914T>A	uc004bsc.3	-	6	1871	c.1729A>T	c.(1729-1731)Aag>Tag	p.K577*	SH2D3C_uc010mxo.3_Nonsense_Mutation_p.K417*|SH2D3C_uc004bry.3_Nonsense_Mutation_p.K419*|SH2D3C_uc004brz.4_Nonsense_Mutation_p.K223*|SH2D3C_uc011mak.2_Nonsense_Mutation_p.K223*|SH2D3C_uc004bsb.3_Nonsense_Mutation_p.K509*|SH2D3C_uc004bsa.3_Nonsense_Mutation_p.K420*	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	577					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCTTGACCTTGCGCAGAAGG	0.622													18	115					0	0	1	0	0	A	130506914	T	A	130506914	4	1	186	1	0	0	0	0	0	1	0	0	14234	1821	63	5	877	5	SH2D3C	9	130506914	Nonsense_Mutation	SNP	T	TCGA-EL-A3H1-01A-11D-A21A-08		130506914	10706517	14	3231											
CHD4	1108	broad.mit.edu	37	chr12	6691343	6691343	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacaccaattctagtaaggAcatgctggcgagacaggcct	10	10	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr12:6691343A>C	uc001qpp.3	-	28	4714	c.4550T>G	c.(4549-4551)gTc>gGc	p.V1517G	CHD4_uc001qpn.3_Missense_Mutation_p.V1485G|CHD4_uc001qpo.3_Missense_Mutation_p.V1492G|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1492					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTAGTAAGGACATGCTGGCG	0.542													4	53					0	0	1	0	0	C	6691343	A	C	6691343	3	2	186	1	0	0	0	0	1	0	0	0	3327	275	10	5	1307	5	CHD4	12	6691343	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08		6691343	127160552	15	3232											
ZNF410	57862	broad.mit.edu	37	chr14	74390223	74390223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taactgcagtaaatccacaaGaggtaaagtggtctcttgcc	9	9	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr14:74390223G>C	uc010arz.2	+	11	1897	c.1447G>C	c.(1447-1449)Gag>Cag	p.E483Q	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_Missense_Mutation_p.E270Q|ZNF410_uc001xoz.2_Missense_Mutation_p.E466Q|ZNF410_uc001xpb.2_Missense_Mutation_p.E419Q|ZNF410_uc010tug.2_Missense_Mutation_p.E197Q|ZNF410_uc010tuh.2_Missense_Mutation_p.E393Q|ZNF410_uc010tuj.2_Missense_Mutation_p.E270Q	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AAATCCACAAGAGGTAAAGTG	0.443													40	54					0	0	1	0	0	C	74390223	G	C	74390223	3	2	186	1	0	0	0	0	1	0	0	0	17887	943	33	4	1434	4	ZNF410	14	74390223	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		74390223	32959317	16	3233											
FBN1	2200	broad.mit.edu	37	chr15	48788300	48788300	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaaaatatggtttaccttCacatgtttttagatcaggtt	6	6	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:48788300C>T	uc001zwx.2	-	19	2811	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	806	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTACCTTCACATGTTTTT	0.358													12	13					0	0	1	0	0	T	48788300	C	T	48788300	3	4	186	1	0	0	0	0	1	0	0	0	5702	835	29	2	6387	2	FBN1	15	48788300	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		48788300	53743092	17	3234											
STRA6	64220	broad.mit.edu	37	chr15	74476216	74476216	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaaggcagataaaggctgtCtggtaggcactgaagctcat	12	9	2	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:74476216C>G	uc002axj.3	-	13	1758	c.1398G>C	c.(1396-1398)caG>caC	p.Q466H	STRA6_uc002axi.3_Missense_Mutation_p.Q236H|STRA6_uc010ulh.2_Missense_Mutation_p.Q465H|STRA6_uc002axk.3_Missense_Mutation_p.Q427H|STRA6_uc002axl.3_Missense_Mutation_p.Q359H|STRA6_uc010bji.3_Missense_Mutation_p.Q427H|STRA6_uc021sqg.1_Missense_Mutation_p.Q442H|STRA6_uc002axm.3_Missense_Mutation_p.Q427H|STRA6_uc002axn.3_Missense_Mutation_p.Q418H|STRA6_uc010uli.2_Missense_Mutation_p.Q464H|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	427					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAAAGGCTGTCTGGTAGGCAC	0.612													84	107					0	0	1	0	0	G	74476216	C	G	74476216	3	3	186	1	0	0	0	0	1	0	0	0	15321	912	32	4	746	4	STRA6	15	74476216	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	25687916	74476216	28055176	18	3235											
ACSM5	54988	broad.mit.edu	37	chr16	20430680	20430680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgccatcagtgccgaAtgcccctccctccagaccaa	9	16	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:20430680A>C	uc002dhe.3	+	3	693	c.546A>C	c.(544-546)gaA>gaC	p.E182D	ACSM5_uc002dhd.1_Missense_Mutation_p.E182D	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	182			E -> K (in dbSNP:rs7192210).		fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCAGTGCCGAATGCCCCTCCC	0.587													25	37					0	0	1	0	0	C	20430680	A	C	20430680	3	2	186	1	0	0	0	0	1	0	0	0	187	98	4	5	556	5	ACSM5	16	20430680	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08		20430680	69924073	19	3236											
CETP	1071	broad.mit.edu	37	chr16	57015114	57015114	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctattctaagaaaaagctCttcttaagcctcttggattt	5	9	4	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:57015114C>T	uc002eki.2	+	11	1248	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	CETP_uc002ekj.2_Silent_p.L337L	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	397					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGAAAAAGCTCTTCTTAAGCC	0.547													13	28					0	0	1	0	0	T	57015114	C	T	57015114	2	4	186	1	0	0	0	0	0	0	0	1	3277	900	32	2		2	CETP	16	57015114	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	36584434	57015114	33339639	20	3237											
HYDIN	54768	broad.mit.edu	37	chr16	71218818	71218818	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcgatgatctgtggtcGgcacatcaaacgtgtttttg	12	7	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:71218818G>A	uc002ezr.3	-	2	362	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Nonsense_Mutation_p.R71*|HYDIN_uc010vmc.2_Nonsense_Mutation_p.R88*|HYDIN_uc010vmd.2_Nonsense_Mutation_p.R98*|HYDIN_uc002ezw.4_Nonsense_Mutation_p.R88*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	71										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATCTGTGGTCGGCACATCAAA	0.463													3	73					0	0	1	0	0	A	71218818	G	A	71218818	4	1	186	1	0	0	0	0	0	1	0	0	7467	1124	39	1	15499	1	HYDIN	16	71218818	Nonsense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	14203704	71218818	19135935	21	3238											
CHD3	1107	broad.mit.edu	37	chr17	7800502	7800502	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccggcgaggatgatgggaaGagcgacaagcgtaaagtgaa	16	6	0	3			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:7800502G>C	uc002gjd.2	+	10	1988	c.1986G>C	c.(1984-1986)aaG>aaC	p.K662N	CHD3_uc002gje.2_Missense_Mutation_p.K603N|CHD3_uc002gjf.2_Missense_Mutation_p.K603N|CHD3_uc002gjg.1_Missense_Mutation_p.K431N	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	603	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGATGGGAAGAGCGACAAGC	0.512													36	53					0	0	1	0	0	C	7800502	G	C	7800502	3	2	186	1	0	0	0	0	1	0	0	0	3326	933	33	4	2132	4	CHD3	17	7800502	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		7800502	73394708	22	3239											
PSMC3IP	29893	broad.mit.edu	37	chr17	40725136	40725136	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacttacaaagaactgctTcttgctcttggggtatcctt	7	11	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:40725136T>G	uc002iai.2	-	6	629	c.586A>C	c.(586-588)Aag>Cag	p.K196Q	MLX_uc002iaf.3_3'UTR|MLX_uc002iag.3_3'UTR|MLX_uc002iah.3_3'UTR|PSMC3IP_uc002iaj.3_Missense_Mutation_p.K133Q|PSMC3IP_uc010wgp.1_Non-coding_Transcript|PSMC3IP_uc002iak.2_Missense_Mutation_p.K184Q|PSMC3IP_uc010wgn.1_Missense_Mutation_p.K117Q|PSMC3IP_uc010wgo.1_Non-coding_Transcript	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	Homo sapiens PSMC3 interacting protein (PSMC3IP), transcript variant 2, mRNA.	196					DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AAGAACTGCTTCTTGCTCTTG	0.488													17	13					0	0	1	0	0	G	40725136	T	G	40725136	3	3	186	1	0	0	0	0	1	0	0	0	12688	1792	62	5	75	5	PSMC3IP	17	40725136	Missense_Mutation	SNP	T	TCGA-EL-A3H1-01A-11D-A21A-08	32924634	40725136	40470074	23	3240											
EXOC3L2	90332	broad.mit.edu	37	chr19	45731482	45731482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggctcccccagtgctcttCgtcctcctgcagcacacgga	9	18	1	0			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr19:45731482C>T	uc002pay.1	-	2	174	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	45										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CAGTGCTCTTCGTCCTCCTGC	0.642													5	229					0	0	1	0	0	T	45731482	C	T	45731482	3	4	186	1	0	0	0	0	1	0	0	0	5305	893	31	1	1128	1	EXOC3L2	19	45731482	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		45731482	13397501	24	3241											
MPPED1	758	broad.mit.edu	37	chr22	43898562	43898562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagaagatgcagcgggtgGgctgtgtggagctgctcaac	16	9	1	2			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr22:43898562G>A	uc011apz.2	+	5	1227	c.886G>A	c.(886-888)Ggc>Agc	p.G296S	MPPED1_uc011apv.2_Missense_Mutation_p.G263S|MPPED1_uc011apw.2_Missense_Mutation_p.G157S|MPPED1_uc011apx.2_Missense_Mutation_p.G105S|MPPED1_uc011apy.2_Missense_Mutation_p.G263S	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	263							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCAGCGGGTGGGCTGTGTGGA	0.632													20	139					0	0	1	0	0	A	43898562	G	A	43898562	3	1	186	1	0	0	0	0	1	0	0	0	9741	1232	43	2	685	2	MPPED1	22	43898562	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		43898562	7406004	25	3242											
SEPT6	23157	broad.mit.edu	37	chrX	118797459	118797459	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttacctgtcctctttgttGatctggtccccaaagccaac	6	14	2	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:118797459G>T	uc011mtw.1	-	3	490	c.417C>A	c.(415-417)atC>atA	p.I139I	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.I109I|SEPT6_uc004ert.3_Silent_p.I109I|SEPT6_uc004eru.3_Silent_p.I109I|SEPT6_uc004erv.3_Silent_p.I109I|SEPT6_uc004erw.3_Silent_p.I51I|SEPT6_uc011mtv.1_Silent_p.I51I	NM_145800	NP_665799	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant III, mRNA.	109					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCTCTTTGTTGATCTGGTCCC	0.557			T	MLL	AML								19	282					0	0	1	0	0	T	118797459	G	T	118797459	2	4	186	1	0	0	0	0	0	0	0	1	14068	1280	45	4		4	SEPT6	23	118797459	Silent	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		118797459	36473101	26	3243											
PLXNB3	5365	broad.mit.edu	37	chrX	153042366	153042366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatggagcaacagtggggCtcgtccctcagctgcaccgt	13	13	1	1			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153042366C>T	uc010nuk.2	+	29	5198	c.4927C>T	c.(4927-4929)Ctc>Ttc	p.L1643F	PLXNB3_uc004fii.2_Missense_Mutation_p.L1620F|PLXNB3_uc011mzd.1_Missense_Mutation_p.L1259F|SRPK3_uc004fik.3_5'UTR	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1620					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AACAGTGGGGCTCGTCCCTCA	0.682													11	10					0	0	1	0	0	T	153042366	C	T	153042366	3	4	186	1	0	0	0	0	1	0	0	0	12125	797	28	2	5086	2	PLXNB3	23	153042366	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	34244907	153042366	2228194	27	3244											
GDI1	2664	broad.mit.edu	37	chrX	153668409	153668409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagactaccagcatgcgtgaCgtctaccggaagtttgatct	10	11	2	3			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153668409C>T	uc004fli.4	+	4	852	c.510C>T	c.(508-510)gaC>gaT	p.D170D	GDI1_uc011mzo.1_Silent_p.D170D|GDI1_uc004flj.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	170					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATGCGTGACGTCTACCGGA	0.572													8	468					0	0	1	0	0	T	153668409	C	T	153668409	2	4	186	1	0	0	0	0	0	0	0	1	6320	535	19	1		1	GDI1	23	153668409	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	626043	153668409	1602151	28	3245											
DKC1	1736	broad.mit.edu	37	chrX	154003524	154003524	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaagccccgcaggtagtTgccgaagcagcaaaaactgc	11	11	0	0			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:154003524T>A	uc004fmm.3	+	12	1524	c.1314T>A	c.(1312-1314)gtT>gtA	p.V438V	DKC1_uc010nvf.3_Silent_p.V433V	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	438					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCAGGTAGTTGCCGAAGCAG	0.468									Congenital Dyskeratosis				39	49					0	0	1	0	0	A	154003524	T	A	154003524	2	1	186	1	0	0	0	0	0	0	0	1	4542	1799	63	5		5	DKC1	23	154003524	Silent	SNP	T	TCGA-EL-A3H1-01A-11D-A21A-08	335115	154003524	1267036	29	3246											
FAM129A	116496	broad.mit.edu	37	chr1	184792832	184792832	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcttaggcagcaggtctgtCtgaagagtgggcaggagctc	15	8	3	2			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr1:184792832C>G	uc001gra.3	-	6	956	c.762G>C	c.(760-762)caG>caC	p.Q254H	FAM129A_uc001grb.1_Intron|FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Missense_Mutation_p.Q52H	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	254					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.Q254P(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCAGGTCTGTCTGAAGAGTGG	0.512													3	109					0	0	1	0	0	G	184792832	C	G	184792832	3	3	187	1	0	0	0	0	1	0	0	0	5436	912	32	4	2056	4	FAM129A	1	184792832	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		184792832	64457789	1	3247											
POTEE	445582	broad.mit.edu	37	chr2	131976198	131976198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccctgctgcagggggAgtggcaagagcaacgtgggc	17	11	0	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:131976198A>G	uc002tsn.2	+	0	275	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	75							ATP binding										CTGCAGGGGGAGTGGCAAGAG	0.587													3	196					0	0	1	0	0	G	131976198	A	G	131976198	3	3	187	1	0	0	0	0	1	0	0	0	12264	304	11	3	225	3	POTEE	2	131976198	Missense_Mutation	SNP	A	TCGA-EL-A3H2-01A-11D-A20C-08		131976198	111223175	2	3248											
FKBP7	51661	broad.mit.edu	37	chr2	179341923	179341923	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaaccatttggggtggCcttcattttgtgtccggcta	11	9	1	0			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:179341923C>G	uc002umk.3	-	1	368	c.239G>C	c.(238-240)gGc>gCc	p.G80A	MIR548N_uc021vsx.1_Intron|FKBP7_uc002umm.3_Missense_Mutation_p.G80A|FKBP7_uc002uml.3_Non-coding_Transcript|FKBP7_uc010zff.2_Missense_Mutation_p.G76A	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	Homo sapiens FK506 binding protein 7 (FKBP7), transcript variant 1, mRNA.	80	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTTGGGGTGGCCTTCATTTTG	0.383													7	85					0	0	1	0	0	G	179341923	C	G	179341923	3	3	187	1	0	0	0	0	1	0	0	0	5913	739	26	4	441	4	FKBP7	2	179341923	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	47365725	179341923	63857450	3	3249											
ERBB4	2066	broad.mit.edu	37	chr2	212248348	212248348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacaactgagcttacaccaCagtattccggtgtctgtaag	8	12	1	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:212248348C>A	uc002veg.1	-	27	4017	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ERBB4_uc002veh.1_Missense_Mutation_p.V1291L|ERBB4_uc010zji.1_Missense_Mutation_p.V1297L|ERBB4_uc010zjj.1_Missense_Mutation_p.V1281L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1307					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCTTACACCACAGTATTCCGG	0.537										TSP Lung(8;0.080)			3	100					0	0	1	0	0	A	212248348	C	A	212248348	3	1	187	1	0	0	0	0	1	0	0	0	5209	478	17	4	11	4	ERBB4	2	212248348	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	32906425	212248348	30951025	4	3250											
EGFLAM	133584	broad.mit.edu	37	chr5	38448474	38448474	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgacaacccagatatcTtgaagaggtaataagcttca	8	8	2	4			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr5:38448474T>C	uc003jlc.2	+	18	2906	c.2560T>C	c.(2560-2562)Ttg>Ctg	p.L854L	EGFLAM_uc003jlb.2_Silent_p.L846L|EGFLAM_uc003jle.2_Silent_p.L612L|EGFLAM_uc003jlf.2_Silent_p.L212L|EGFLAM_uc003jlg.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	854	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCAGATATCTTGAAGAGGTA	0.438													4	166					0	0	1	0	0	C	38448474	T	C	38448474	2	2	187	1	0	0	0	0	0	0	0	1	4966	1606	56	3		3	EGFLAM	5	38448474	Silent	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08		38448474	142466786	5	3251											
SYCP2L	221711	broad.mit.edu	37	chr6	10894117	10894117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcaatcacttattacGgatgcattccatgataaagg	7	9	2	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr6:10894117G>A	uc003mzo.3	+	2	392	c.96G>A	c.(94-96)acG>acA	p.T32T	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	32						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CACTTATTACGGATGCATTCC	0.299													4	53					0	0	1	0	0	A	10894117	G	A	10894117	2	1	187	1	0	0	0	0	0	0	0	1	15430	1103	39	1		1	SYCP2L	6	10894117	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		10894117	160220950	6	3252											
CAMK2B	816	broad.mit.edu	37	chr7	44269096	44269096	+	Frame_Shift_Del	DEL	G	G	-													ctcaggatgtcggggaccctGggggctgaggcggaacaggt							TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:44269096delG	uc003tkq.2	-	17	1440	c.1230delC	c.(1228-1230)cccfs	p.P410fs	CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_5'UTR	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	410					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CGGGGACCCTGGGGGCTGAGG	0.697													2	4	---	---	---	---						-	44269096	G	-	44269096	7	5	187	1	0	1	0	1	0	0	0	0	2600	1335	47	0	794	0	CAMK2B	7	44269096	Frame_Shift_Del	DEL	G	TCGA-EL-A3H2-01A-11D-A20C-08		44269096	114869567	7	3253											
COG5	10466	broad.mit.edu	37	chr7	106851577	106851577	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcagttcagcgggtgctctCgtgaacaaaaactgaataat	9	8	3	2			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:106851577C>A	uc003vec.2	-	19	2880	c.2355G>T	c.(2353-2355)acG>acT	p.T785T	COG5_uc003ved.2_Silent_p.T764T|COG5_uc003vee.2_Silent_p.T785T	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	764					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CGGGTGCTCTCGTGAACAAAA	0.468													3	109					0	0	1	0	0	A	106851577	C	A	106851577	2	1	187	1	0	0	0	0	0	0	0	1	3661	871	31	4		4	COG5	7	106851577	Silent	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	62582481	106851577	52287086	8	3254											
CSMD1	64478	broad.mit.edu	37	chr8	3165913	3165913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgctgccatgcatggcGtaccccgggttgcaactgta	13	11	0	0			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:3165913G>A	uc022aqr.1	-	23	4134	c.3744C>T	c.(3742-3744)taC>taT	p.Y1248Y	CSMD1_uc011kwj.2_Silent_p.Y641Y|CSMD1_uc003wqe.3_Silent_p.Y405Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1249	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATGCATGGCGTACCCCGGGT	0.517													3	44					0	0	1	0	0	A	3165913	G	A	3165913	2	1	187	1	0	0	0	0	0	0	0	1	3944	1140	40	1		1	CSMD1	8	3165913	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		3165913	143198109	9	3255											
TMEM67	91147	broad.mit.edu	37	chr8	94809588	94809588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgtacgaagtgccactgttCctgtaagcatatggagaaca	11	8	0	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:94809588C>A	uc011lgk.2	+	19	2061	c.1990C>A	c.(1990-1992)Cct>Act	p.P664T	TMEM67_uc010maw.2_Missense_Mutation_p.P370T|TMEM67_uc003yga.4_Missense_Mutation_p.P583T|TMEM67_uc011lgl.2_Missense_Mutation_p.P63T	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	664					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGCCACTGTTCCTGTAAGCAT	0.373													46	98					0	0	1	0	0	A	94809588	C	A	94809588	3	1	187	1	0	0	0	0	1	0	0	0	16193	855	30	4	2206	4	TMEM67	8	94809588	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	91643675	94809588	51554434	10	3256											
ZNF169	169841	broad.mit.edu	37	chr9	97063337	97063337	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcatttggctttaagtcGctcctcacccgacaccagag	9	14	1	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:97063337G>T	uc004aum.1	+	4	1602	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S	ZNF169_uc022bki.1_Silent_p.S500S	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	499						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S499L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCTTTAAGTCGCTCCTCACCC	0.547													47	46					0	0	1	0	0	T	97063337	G	T	97063337	2	4	187	1	0	0	0	0	0	0	0	1	17739	1074	38	4		4	ZNF169	9	97063337	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		97063337	44150094	11	3257											
CRAT	1384	broad.mit.edu	37	chr9	131866547	131866547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgaccacaggctggcgGtactggaggtaggcggtctt	16	8	1	2			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:131866547G>A	uc004bxh.3	-	2	612	c.330C>T	c.(328-330)taC>taT	p.Y110Y	CRAT_uc004bxk.4_Silent_p.Y89Y	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGGCTGGCGGTACTGGAGGT	0.637													3	35					0	0	1	0	0	A	131866547	G	A	131866547	2	1	187	1	0	0	0	0	0	0	0	1	3847	1256	44	2		2	CRAT	9	131866547	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08	34803210	131866547	9346884	12	3258											
C10orf71	118461	broad.mit.edu	37	chr10	50531657	50531657	+	Frame_Shift_Del	DEL	C	C	-													ggggtgcagggatccaggagCccaggtatttgctgtggaag							TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr10:50531657delC	uc021pqb.1	+	0	1067	c.1067delC	c.(1066-1068)gccfs	p.A356fs	C10orf71_uc021pqa.1_Frame_Shift_Del_p.A355fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.A356fs	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	356										endometrium(1)	1						GATCCAGGAGCCCAGGTATTT	0.567													43	55	---	---	---	---						-	50531657	C	-	50531657	7	5	187	1	0	1	0	1	0	0	0	0	1614	739	26	0	1069	0	C10orf71	10	50531657	Frame_Shift_Del	DEL	C	TCGA-EL-A3H2-01A-11D-A20C-08		50531657	85003090	13	3259											
IFLTD1	160492	broad.mit.edu	37	chr12	25702464	25702464	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtactaaagaatatactcCaagtttgtcttctcttctgt	5	8	3	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr12:25702464C>A	uc010sji.1	-	2	351	c.106G>T	c.(106-108)Gga>Tga	p.G36*	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Nonsense_Mutation_p.G15*|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Nonsense_Mutation_p.G36*	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	15						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GAATATACTCCAAGTTTGTCT	0.323													4	107					0	0	1	0	0	A	25702464	C	A	25702464	4	1	187	1	0	0	0	0	0	1	0	0	7530	603	21	4	1151	4	IFLTD1	12	25702464	Nonsense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		25702464	108149431	14	3260											
EFS	10278	broad.mit.edu	37	chr14	23826572	23826572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgacagccagcacagtggCccgcaatgcctggcccagtg	12	15	0	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23826572C>A	uc001wjo.3	-	5	2157	c.1549G>T	c.(1549-1551)Gcc>Tcc	p.A517S	EFS_uc001wjp.3_Missense_Mutation_p.A424S|EFS_uc010tnm.2_Missense_Mutation_p.A348S	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	517					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	p.R516Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGCACAGTGGCCCGCAATGCC	0.647													11	81					0	0	1	0	0	A	23826572	C	A	23826572	3	1	187	1	0	0	0	0	1	0	0	0	4959	739	26	4	140	4	EFS	14	23826572	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		23826572	83522968	15	3261											
MYH7	4625	broad.mit.edu	37	chr14	23885503	23885503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcccggaggatcttgccctCctcgtgctccagggaggcct	14	15	1	0			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23885503C>T	uc001wjx.3	-	33	4769	c.4663G>A	c.(4663-4665)Gag>Aag	p.E1555K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1555			E -> K (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTTGCCCTCCTCGTGCTCC	0.627													8	217					0	0	1	0	0	T	23885503	C	T	23885503	3	4	187	1	0	0	0	0	1	0	0	0	10039	864	30	2	1172	2	MYH7	14	23885503	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	58931	23885503	83464037	16	3262											
MLH3	27030	broad.mit.edu	37	chr14	75514649	75514649	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactatgtactccccataaTgttgttgcaaaaggcagagg	10	9	0	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:75514649T>C	uc001xrd.1	-	1	1926	c.1710A>G	c.(1708-1710)acA>acG	p.T570T	MLH3_uc001xre.1_Silent_p.T570T|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	570					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTCCCCATAATGTTGTTGCAA	0.363								Mismatch excision repair (MMR)					3	96					0	0	1	0	0	C	75514649	T	C	75514649	2	2	187	1	0	0	0	0	0	0	0	1	9618	1451	51	3		3	MLH3	14	75514649	Silent	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08	51629146	75514649	31834891	17	3263											
ARHGAP17	55114	broad.mit.edu	37	chr16	24953431	24953431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaactcggggtggtgagaGgtacaaatgcttctgataca	13	6	1	3			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:24953431G>A	uc002dnb.3	-	15	1460	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	ARHGAP17_uc002dmz.3_5'Flank|ARHGAP17_uc002dna.3_Missense_Mutation_p.P183L|ARHGAP17_uc002dnc.3_Missense_Mutation_p.P456L|ARHGAP17_uc010vcf.2_Missense_Mutation_p.P277L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	456					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGTGGTGAGAGGTACAAATGC	0.507													3	119					0	0	1	0	0	A	24953431	G	A	24953431	3	1	187	1	0	0	0	0	1	0	0	0	867	1000	35	2	1298	2	ARHGAP17	16	24953431	Missense_Mutation	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		24953431	65401322	18	3264											
NFAT5	10725	broad.mit.edu	37	chr16	69727410	69727410	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccgcagcagggtttatttCagcctcaggtggccctgggc	13	14	2	0			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:69727410C>A	uc002exl.2	+	12	4018	c.3682C>A	c.(3682-3684)Cag>Aag	p.Q1228K	NFAT5_uc002exj.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exk.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exn.2_Missense_Mutation_p.Q1227K|NFAT5_uc002exm.2_Missense_Mutation_p.Q1210K|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Missense_Mutation_p.Q1134K	NM_138713	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.	1210					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGGTTTATTTCAGCCTCAGGT	0.512													4	110					0	0	1	0	0	A	69727410	C	A	69727410	3	1	187	1	0	0	0	0	1	0	0	0	10360	827	29	4	3732	4	NFAT5	16	69727410	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	44773979	69727410	20627343	19	3265											
STAT5B	6777	broad.mit.edu	37	chr17	40354774	40354774	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacagccacctggacacttaCtcagggaccacttgcttgat	8	14	1	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr17:40354774C>G	uc002hzh.3	-	17	2298	c.2129_splice	c.e17+1	p.E710_splice		NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	710					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGACACTTACTCAGGGACCA	0.532													9	232					0	0	1	0	0	G	40354774	C	G	40354774	5	3	187	1	0	0	0	0	0	0	1	0	15268	579	20	4	245	4	STAT5B	17	40354774	Splice_Site	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		40354774	40840436	20	3266											
DSG4	147409	broad.mit.edu	37	chr18	28986167	28986167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagttatatgcctgtgaTtgcgatgacaaccacatgtg	11	8	0	2			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr18:28986167T>C	uc002kwr.2	+	11	1899	c.1764T>C	c.(1762-1764)gaT>gaC	p.D588D	DSG4_uc002kwq.2_Silent_p.D588D	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	588					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.C587S(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGCCTGTGATTGCGATGACA	0.483													10	99					0	0	1	0	0	C	28986167	T	C	28986167	2	2	187	1	0	0	0	0	0	0	0	1	4779	1490	52	3		3	DSG4	18	28986167	Silent	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08		28986167	49091081	21	3267											
KIAA1683	80726	broad.mit.edu	37	chr19	18378325	18378325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgccttgattaccggacaGgtcagctctgcctgtggggg	14	10	2	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18378325G>A	uc010ebn.2	-	2	241	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	KIAA1683_uc002nin.2_Silent_p.L9L|KIAA1683_uc010xqe.1_5'UTR	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	9						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTACCGGACAGGTCAGCTCTG	0.667													3	101					0	0	1	0	0	A	18378325	G	A	18378325	2	1	187	1	0	0	0	0	0	0	0	1	8251	991	35	2		2	KIAA1683	19	18378325	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		18378325	40750658	22	3268											
FKBP8	23770	broad.mit.edu	37	chr19	18650451	18650451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgacgtctgcagatgtacGgtgaccacctggcccttgac	12	13	1	3			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18650451G>A	uc010xqi.1	-	2	482	c.459C>T	c.(457-459)acC>acT	p.T153T	FKBP8_uc002njj.1_Silent_p.T124T|FKBP8_uc002njk.1_Silent_p.T124T|FKBP8_uc021uqp.1_Intron	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	124	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCAGATGTACGGTGACCACCT	0.652													4	202					0	0	1	0	0	A	18650451	G	A	18650451	2	1	187	1	0	0	0	0	0	0	0	1	5914	1103	39	1		1	FKBP8	19	18650451	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08	272126	18650451	40478532	23	3269											
TRIB3	57761	broad.mit.edu	37	chr20	377081	377081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcggcaagatccgccGcggggcctacgccttgcctg	13	16	1	1	rs140801463		TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr20:377081G>A	uc002wdn.3	+	4	1222	c.905G>A	c.(904-906)cGc>cAc	p.R302H	TRIB3_uc002wdm.3_Missense_Mutation_p.R275H	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.	275	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AAGATCCGCCGCGGGGCCTAC	0.692													5	97					0	0	1	0	0	A	377081	G	A	377081	3	1	187	1	0	0	0	0	1	0	0	0	16481	1087	38	1	834	1	TRIB3	20	377081	Missense_Mutation	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		377081	62648439	24	3270											
DSCAM	1826	broad.mit.edu	37	chr21	41414505	41414505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaacttggcgtgcctcaGttgctcttccatcttggcgt	12	11	3	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr21:41414505G>A	uc002yyq.1	-	31	5931	c.5479C>T	c.(5479-5481)Ctg>Ttg	p.L1827L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1827					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGTGCCTCAGTTGCTCTTCC	0.537													4	136					0	0	1	0	0	A	41414505	G	A	41414505	2	1	187	1	0	0	0	0	0	0	0	1	4768	1020	36	2		2	DSCAM	21	41414505	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		41414505	6715390	25	3271											
MYO18B	84700	broad.mit.edu	37	chr22	26423340	26423340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaaaggtgggcaagacgGttcacagcgttcaagcatcc	12	11	2	1			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr22:26423340G>A	uc003abz.1	+	42	7650	c.7400G>A	c.(7399-7401)gGt>gAt	p.G2467D	MYO18B_uc003aca.1_Missense_Mutation_p.G2348D|MYO18B_uc010guy.1_Missense_Mutation_p.G2349D|MYO18B_uc010guz.1_Missense_Mutation_p.G2347D|MYO18B_uc011aka.1_Missense_Mutation_p.G1621D|MYO18B_uc011akb.1_Missense_Mutation_p.G1980D|MYO18B_uc010gva.1_Missense_Mutation_p.G450D|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2467						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCAAGACGGTTCACAGCGT	0.542													4	94					0	0	1	0	0	A	26423340	G	A	26423340	3	1	187	1	0	0	0	0	1	0	0	0	10066	1261	44	2	7566	2	MYO18B	22	26423340	Missense_Mutation	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		26423340	24881226	26	3272											
MMADHC	27249	broad.mit.edu	37	chr2	150426631	150426631	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagagaatcctaaatgtcGgtagcgttcatcagtttcaa	8	8	3	1	rs118204048		TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr2:150426631G>A	uc002txc.3	-	7	953	c.748C>T	c.(748-750)Cga>Tga	p.R250*		NM_015702	NP_056517	Q9H3L0	MMAD_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein, mRNA.	250						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						CCTAAATGTCGGTAGCGTTCA	0.368													3	42					0	0	1	0	0	A	150426631	G	A	150426631	4	1	188	1	0	0	0	0	0	1	0	0	9642	1124	39	1	146	1	MMADHC	2	150426631	Nonsense_Mutation	SNP	G	TCGA-EL-A3H3-01A-11D-A202-08		150426631	92772742	1	3273											
PRKDC	5591	broad.mit.edu	37	chr8	48774649	48774649	+	Frame_Shift_Del	DEL	G	G	-													ttctacaggaaaattatagcGgcgcttcaggtcgatcagat							TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr8:48774649delG	uc003xqi.3	-	44	6013	c.5956delC	c.(5956-5958)cgcfs	p.R1986fs	PRKDC_uc003xqj.3_Frame_Shift_Del_p.R1986fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1987					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAATTATAGCGGCGCTTCAGG	0.323								Non-homologous end-joining					2	4	---	---	---	---						-	48774649	G	-	48774649	7	5	188	1	0	1	0	1	0	0	0	0	12521	1116	39	0	6599	0	PRKDC	8	48774649	Frame_Shift_Del	DEL	G	TCGA-EL-A3H3-01A-11D-A202-08		48774649	97589373	2	3274											
PPAPDC2	403313	broad.mit.edu	37	chr9	4662738	4662738	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagaagctgggggtgtgcgcGggagagagctcgtcgtgggg	22	6	0	2			TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr9:4662738G>C	uc003zin.3	+	0	441	c.363G>C	c.(361-363)gcG>gcC	p.A121A	SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA.	121						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGGTGTGCGCGGGAGAGAGCT	0.657											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	32					0	0	1	0	0	C	4662738	G	C	4662738	2	2	188	1	0	0	0	0	0	0	0	1	12295	1103	39	4		4	PPAPDC2	9	4662738	Silent	SNP	G	TCGA-EL-A3H3-01A-11D-A202-08		4662738	136550693	3	3275											
GNL3L	54552	broad.mit.edu	37	chrX	54581094	54581094	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgacgaaaatagcagAtgccattgaaaataaaacca	7	8	0	3			TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chrX:54581094A>T	uc022bxi.1	+	13	1671	c.1415A>T	c.(1414-1416)gAt>gTt	p.D472V	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.D472V	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	472					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AAAATAGCAGATGCCATTGAA	0.483													4	78					0	0	1	0	0	T	54581094	A	T	54581094	3	4	188	1	0	0	0	0	1	0	0	0	6538	333	12	5	1465	5	GNL3L	23	54581094	Missense_Mutation	SNP	A	TCGA-EL-A3H3-01A-11D-A202-08		54581094	100689466	4	3276											
SLC9A9	285195	broad.mit.edu	37	chr3	142985759	142985759	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgcattccacatcatcctCttttagctgttcctggttgg	7	11	2	0			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr3:142985759C>A	uc003evn.3	-	15	1932	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	575					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ACATCATCCTCTTTTAGCTGT	0.428													4	64					0	0	1	0	0	A	142985759	C	A	142985759	4	1	189	1	0	0	0	0	0	1	0	0	14721	922	32	4	218	4	SLC9A9	3	142985759	Nonsense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		142985759	55036671	1	3277											
ALPK1	80216	broad.mit.edu	37	chr4	113353377	113353377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagacccccaattcctctGtaagcggtaacatcctcttc	7	15	2	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr4:113353377G>A	uc003ian.4	+	10	2901	c.2674G>A	c.(2674-2676)Gta>Ata	p.V892I	ALPK1_uc003iap.4_Missense_Mutation_p.V892I|ALPK1_uc011cfx.2_Missense_Mutation_p.V814I|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.V720I	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	892							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAATTCCTCTGTAAGCGGTAA	0.552													6	102					0	0	1	0	0	A	113353377	G	A	113353377	3	1	189	1	0	0	0	0	1	0	0	0	544	1377	48	2	2708	2	ALPK1	4	113353377	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		113353377	77800899	2	3278											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	35					0	0	1	0	0	T	140453136	A	T	140453136	3	4	189	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		140453136	18685527	3	3279											
KIAA1429	25962	broad.mit.edu	37	chr8	95508670	95508670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtgatgtatgagctccCtctacttccatgagaccatt	8	12	1	3			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:95508670C>A	uc003ygo.2	-	17	4340	c.4269G>T	c.(4267-4269)gaG>gaT	p.E1423D	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1423					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TATGAGCTCCCTCTACTTCCA	0.383													3	64					0	0	1	0	0	A	95508670	C	A	95508670	3	1	189	1	0	0	0	0	1	0	0	0	8231	680	24	4	1197	4	KIAA1429	8	95508670	Missense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		95508670	50855352	4	3280											
FAM135B	51059	broad.mit.edu	37	chr8	139164287	139164287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacaaagttgagagcaagAtcctggggaaccttggctct	11	10	1	2			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:139164287A>G	uc003yuy.3	-	12	2602	c.2431T>C	c.(2431-2433)Tct>Cct	p.S811P	FAM135B_uc003yux.3_Missense_Mutation_p.S712P|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S373P|FAM135B_uc003yvb.3_Missense_Mutation_p.S373P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	811								p.S811S(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	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)			TGAGAGCAAGATCCTGGGGAA	0.532										HNSCC(54;0.14)			4	56					0	0	1	0	0	G	139164287	A	G	139164287	3	3	189	1	0	0	0	0	1	0	0	0	5449	333	12	3	1821	3	FAM135B	8	139164287	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08	43655617	139164287	7199735	5	3281											
CYLC2	1539	broad.mit.edu	37	chr9	105767017	105767017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggagatcgtagacaacCattatggatgtaccgttctt	10	7	1	3			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:105767017C>A	uc004bbs.2	+	3	291	c.221C>A	c.(220-222)cCa>cAa	p.P74Q		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	74	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CGTAGACAACCATTATGGATG	0.378													14	26					0	0	1	0	0	A	105767017	C	A	105767017	3	1	189	1	0	0	0	0	1	0	0	0	4142	594	21	4	235	4	CYLC2	9	105767017	Missense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		105767017	35446414	6	3282											
OR1N2	138882	broad.mit.edu	37	chr9	125316420	125316420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtaaactttttgtcagTggaaaaacattctttttatg	8	4	2	0			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:125316420T>C	uc011lyx.2	+	0	972	c.972T>C	c.(970-972)agT>agC	p.S324S		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTTTTGTCAGTGGAAAAACAT	0.393													12	44					0	0	1	0	0	C	125316420	T	C	125316420	2	2	189	1	0	0	0	0	0	0	0	1	10970	1693	59	3		3	OR1N2	9	125316420	Silent	SNP	T	TCGA-EL-A3H4-01A-11D-A202-08	19549403	125316420	15897011	7	3283											
ABCC2	1244	broad.mit.edu	37	chr10	101596001	101596001	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacacaatgaggtgaggAttgacaccaaccagaaatgt	10	7	0	5			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr10:101596001A>T	uc001kqf.2	+	24	3707	c.3568A>T	c.(3568-3570)Att>Ttt	p.I1190F		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	1190	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGAGGTGAGGATTGACACCAA	0.483													11	64					0	0	1	0	0	T	101596001	A	T	101596001	3	4	189	1	0	0	0	0	1	0	0	0	53	333	12	5	3666	5	ABCC2	10	101596001	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		101596001	33938746	8	3284											
ZBTB39	9880	broad.mit.edu	37	chr12	57398352	57398352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaaggtagagtgacagGcctggaggaggtcctccata	15	8	0	2			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:57398352G>A	uc001sml.2	-	1	503	c.350C>T	c.(349-351)gCc>gTc	p.A117V	ZBTB39_uc021qzg.1_Missense_Mutation_p.A117V	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGAGTGACAGGCCTGGAGGAG	0.557													13	56					0	0	1	0	0	A	57398352	G	A	57398352	3	1	189	1	0	0	0	0	1	0	0	0	17537	1203	42	2	1792	2	ZBTB39	12	57398352	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		57398352	76453543	9	3285											
RNF34	80196	broad.mit.edu	37	chr12	121855480	121855480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattctgagaaatataccCatagatacttgtcgtgagaa	7	8	2	3			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:121855480C>T	uc001uak.1	+	3	579	c.402C>T	c.(400-402)ccC>ccT	p.P134P	RNF34_uc010szw.2_Silent_p.P134P|RNF34_uc001ual.1_Silent_p.P133P	NM_194271	NP_919247	Q969K3	RNF34_HUMAN	Homo sapiens ring finger protein 34 (RNF34), transcript variant 1, mRNA.	133	SAP 1.				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GAAATATACCCATAGATACTT	0.453													4	71					0	0	1	0	0	T	121855480	C	T	121855480	2	4	189	1	0	0	0	0	0	0	0	1	13489	581	21	2		2	RNF34	12	121855480	Silent	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08	64457128	121855480	11996415	10	3286											
THSD1	55901	broad.mit.edu	37	chr13	52952229	52952229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttgcctgtgacttgcGgatcagagtctggctggggc	16	10	2	2	rs144799411	by1000genomes	TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr13:52952229G>A	uc001vgo.3	-	4	2421	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	THSD1_uc001vgp.3_Missense_Mutation_p.R573C|THSD1_uc010tgz.2_Missense_Mutation_p.R247C	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	626						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGTGACTTGCGGATCAGAGTC	0.622													5	60					0	0	1	0	0	A	52952229	G	A	52952229	3	1	189	1	0	0	0	0	1	0	0	0	15874	1116	39	1	686	1	THSD1	13	52952229	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		52952229	62217649	11	3287											
OR6S1	341799	broad.mit.edu	37	chr14	21108936	21108936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccttcctaaacatgtcCttcaaagcttccttgacttg	4	13	1	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr14:21108936C>T	uc001vxv.1	-	0	915	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TAAACATGTCCTTCAAAGCTT	0.398													4	129					0	0	1	0	0	T	21108936	C	T	21108936	2	4	189	1	0	0	0	0	0	0	0	1	11209	680	24	2		2	OR6S1	14	21108936	Silent	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		21108936	86240604	12	3288											
TMEM85	51234	broad.mit.edu	37	chr15	34520681	34520681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttcagggtttggtctAtctcattgggaacctgatgg	12	7	4	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr15:34520681A>G	uc001zhq.3	+	3	478	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	TMEM85_uc001zhs.3_Intron	NM_016454	NP_057538	Q5J8M3	TMM85_HUMAN	Homo sapiens transmembrane protein 85 (TMEM85), mRNA.	136					apoptosis	integral to membrane		p.Y136Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7		all_lung(180;1.15e-06)		all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217)		GGTTTGGTCTATCTCATTGGG	0.443													32	107					0	0	1	0	0	G	34520681	A	G	34520681	3	3	189	1	0	0	0	0	1	0	0	0	16204	449	16	3	421	3	TMEM85	15	34520681	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		34520681	68010711	13	3289											
VAC14	55697	broad.mit.edu	37	chr16	70815792	70815792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttgcggtcatcgtagGccaagcagggcaagacagca	12	10	2	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr16:70815792G>A	uc002ezm.3	-	7	1184	c.926C>T	c.(925-927)gCc>gTc	p.A309V	VAC14_uc010cfw.3_Missense_Mutation_p.A75V|VAC14_uc002ezn.3_Intron|TRNA_Gly_uc021tkn.1_5'Flank	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	309					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GTCATCGTAGGCCAAGCAGGG	0.562													3	69					0	0	1	0	0	A	70815792	G	A	70815792	3	1	189	1	0	0	0	0	1	0	0	0	17108	1203	42	2	1470	2	VAC14	16	70815792	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		70815792	19538961	14	3290											
MUC16	94025	broad.mit.edu	37	chr19	9069428	9069428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgtgttctctgaaaaGtgaattgtctctgtatttgt	9	6	3	2			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr19:9069428G>T	uc002mkp.3	-	2	18222	c.18018C>A	c.(18016-18018)caC>caA	p.H6006Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6008	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTGAAAAGTGAATTGTCT	0.458													24	153					0	0	1	0	0	T	9069428	G	T	9069428	3	4	189	1	0	0	0	0	1	0	0	0	9973	1020	36	4	25833	4	MUC16	19	9069428	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		9069428	50059555	15	3291											
SLC6A8	6535	broad.mit.edu	37	chrX	152956776	152956776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgggctacgcctccAtggtgatcgtcttctactgc	11	14	2	1			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chrX:152956776A>G	uc004fib.3	+	2	690	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	SLC6A8_uc004fic.3_Missense_Mutation_p.M138V|SLC6A8_uc011myx.1_Missense_Mutation_p.M23V|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Missense_Mutation_p.M23V	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	138					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CTACGCCTCCATGGTGATCGT	0.607													9	10					0	0	1	0	0	G	152956776	A	G	152956776	3	3	189	1	0	0	0	0	1	0	0	0	14690	217	8	3	422	3	SLC6A8	23	152956776	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		152956776	2313784	16	3292											
MAP3K6	9064	broad.mit.edu	37	chr1	27685202	27685202	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcccaaagaggtctcacctGaaacatggcagcctgtgggc	13	12	1	2			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:27685202G>A	uc001bny.1	-	18	2830	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	MAP3K6_uc009vsw.1_Nonsense_Mutation_p.Q853*|MAP3K6_uc001bnz.1_Nonsense_Mutation_p.Q384*	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	861	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCTCACCTGAAACATGGCA	0.617													18	45					0	0	1	0	0	A	27685202	G	A	27685202	4	1	190	1	0	0	0	0	0	1	0	0	9254	1299	45	2	1329	2	MAP3K6	1	27685202	Nonsense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		27685202	221565419	1	3293											
ZNHIT6	54680	broad.mit.edu	37	chr1	86171801	86171801	+	Frame_Shift_Del	DEL	G	G	-													tcttcaaaaaagcatctctaGaaatatggtccgctgttctt							TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:86171801delG	uc001dlh.3	-	3	1024	c.875delC	c.(874-876)tctfs	p.S292fs	ZNHIT6_uc010osc.2_Frame_Shift_Del_p.S253fs	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	292					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						AGCATCTCTAGAAATATGGTC	0.313													23	37	---	---	---	---						-	86171801	G	-	86171801	7	5	190	1	0	1	0	1	0	0	0	0	18206	942	33	0	565	0	ZNHIT6	1	86171801	Frame_Shift_Del	DEL	G	TCGA-EL-A3H5-01A-11D-A202-08	58486599	86171801	163078820	2	3294											
ASPM	259266	broad.mit.edu	37	chr1	197060037	197060037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttacggaggagaaaatgGcgcactgctttctgtattac	10	7	1	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:197060037G>A	uc001gtu.3	-	22	9836	c.9579C>T	c.(9577-9579)cgC>cgT	p.R3193R	ASPM_uc001gtv.3_Silent_p.R1608R|ASPM_uc001gtw.4_Silent_p.R1041R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3193	IQ 38.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R3193C(1)|p.R3193L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGAGAAAATGGCGCACTGCTT	0.353													15	86					0	0	1	0	0	A	197060037	G	A	197060037	2	1	190	1	0	0	0	0	0	0	0	1	1056	1190	42	2		2	ASPM	1	197060037	Silent	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	110888236	197060037	52190584	3	3295											
HHAT	55733	broad.mit.edu	37	chr1	210591549	210591549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctgtgtgtcctggccCtggggctgggccgccttctt	14	15	1	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:210591549C>T	uc010psr.2	+	5	844	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	HHAT_uc009xcx.3_Silent_p.L246L|HHAT_uc010psq.2_Silent_p.L109L|HHAT_uc009xcy.3_Silent_p.L181L|HHAT_uc010pss.2_Silent_p.L201L|HHAT_uc010pst.2_Silent_p.L183L|HHAT_uc001hhz.4_Silent_p.L246L|HHAT_uc021pip.1_Silent_p.L246L|HHAT_uc010psu.2_Silent_p.L181L	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	246					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGTCCTGGCCCTGGGGCTGGG	0.567													50	165					0	0	1	0	0	T	210591549	C	T	210591549	2	4	190	1	0	0	0	0	0	0	0	1	7089	680	24	2		2	HHAT	1	210591549	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	13531512	210591549	38659072	4	3296											
ZXDC	79364	broad.mit.edu	37	chr3	126189759	126189759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacaggacactcgaacgGctttgtgcctaggtgggtta	12	10	0	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:126189759G>A	uc003eiv.3	-	3	1303	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.P417S	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	417					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CACTCGAACGGCTTTGTGCCT	0.463													33	89					0	0	1	0	0	A	126189759	G	A	126189759	3	1	190	1	0	0	0	0	1	0	0	0	18249	1203	42	2	1361	2	ZXDC	3	126189759	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		126189759	71832671	5	3297											
SENP5	205564	broad.mit.edu	37	chr3	196612456	196612456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatactgcagagagaaaaAtctcttgaaggcagttactg	10	6	1	4			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:196612456A>G	uc003fwz.4	+	1	653	c.404A>G	c.(403-405)aAt>aGt	p.N135S	SENP5_uc011bty.2_Missense_Mutation_p.N135S	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	135					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	p.N135H(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGAGAGAAAAATCTCTTGAAG	0.443													21	58					0	0	1	0	0	G	196612456	A	G	196612456	3	3	190	1	0	0	0	0	1	0	0	0	14049	101	4	3	406	3	SENP5	3	196612456	Missense_Mutation	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08	70422697	196612456	1409974	6	3298											
ZNF311	282890	broad.mit.edu	37	chr6	28963566	28963566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgtggattcttatgtGtttggtgaggtctgaactcc	12	8	2	2			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:28963566G>A	uc003nlu.2	-	6	1724	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	ZNF311_uc011dlk.1_Missense_Mutation_p.H313Y|ZNF311_uc003nlv.2_Missense_Mutation_p.H313Y	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTCTTATGTGTTTGGTGAGG	0.512													12	40					0	0	1	0	0	A	28963566	G	A	28963566	3	1	190	1	0	0	0	0	1	0	0	0	17831	1377	48	2	791	2	ZNF311	6	28963566	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		28963566	142151501	7	3299											
ZBTB22	9278	broad.mit.edu	37	chr6	33282984	33282984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtacggccccgaccccGcccaggcggtgccggcgctc	14	20	0	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:33282984G>A	uc003oeb.3	-	1	1862	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Silent_p.G570G|ZBTB22_uc021ywm.1_Silent_p.G570G	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCCGACCCCGCCCAGGCGGT	0.687													18	62					0	0	1	0	0	A	33282984	G	A	33282984	2	1	190	1	0	0	0	0	0	0	0	1	17527	1074	38	1		1	ZBTB22	6	33282984	Silent	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	4319418	33282984	137832083	8	3300											
POM121L12	285877	broad.mit.edu	37	chr7	53104067	53104067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgtgcccaggccagggCctctgaagccgagcctcggc	13	17	1	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:53104067C>T	uc003tpz.3	+	0	719	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	235										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGGCCAGGGCCTCTGAAGCC	0.642													19	69					0	0	1	0	0	T	53104067	C	T	53104067	3	4	190	1	0	0	0	0	1	0	0	0	12241	739	26	2	705	2	POM121L12	7	53104067	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		53104067	106034596	9	3301											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	65					0	0	1	0	0	T	140453136	A	T	140453136	3	4	190	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08	87349069	140453136	18685527	10	3302											
LONRF1	91694	broad.mit.edu	37	chr8	12580704	12580704	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccgacagctggtatcgTgggtctacagggagaactgc	13	9	1	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr8:12580704T>C	uc003wwd.1	-	11	2286	c.2223A>G	c.(2221-2223)ccA>ccG	p.P741P	LONRF1_uc011kxv.1_Silent_p.P330P|LONRF1_uc010lsp.1_Silent_p.P341P	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	741	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTGGTATCGTGGGTCTACAG	0.418													46	135					0	0	1	0	0	C	12580704	T	C	12580704	2	2	190	1	0	0	0	0	0	0	0	1	8894	1683	59	3		3	LONRF1	8	12580704	Silent	SNP	T	TCGA-EL-A3H5-01A-11D-A202-08		12580704	133783318	11	3303											
ALDH1B1	219	broad.mit.edu	37	chr9	38396762	38396762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgagtttctcgagagaacCgtggagaaagcaaagcagag	13	6	1	4			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr9:38396762C>T	uc004aay.3	+	1	1170	c.1017C>T	c.(1015-1017)acC>acT	p.T339T	ALDH1B1_uc022bgy.1_Silent_p.T339T	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	339					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TCGAGAGAACCGTGGAGAAAG	0.557													26	42					0	0	1	0	0	T	38396762	C	T	38396762	2	4	190	1	0	0	0	0	0	0	0	1	493	639	23	1		1	ALDH1B1	9	38396762	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		38396762	102816669	12	3304											
C11orf87	399947	broad.mit.edu	37	chr11	109294460	109294460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcagcggcaacacggGtgcccgcggcccaggcgcag	17	16	0	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr11:109294460G>T	uc010rwb.2	+	1	504	c.101G>T	c.(100-102)gGt>gTt	p.G34V	C11orf87_uc021qqf.1_Missense_Mutation_p.G34V	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.	34						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGCAACACGGGTGCCCGCGGC	0.672													12	32					0	0	1	0	0	T	109294460	G	T	109294460	3	4	190	1	0	0	0	0	1	0	0	0	1669	1261	44	4	103	4	C11orf87	11	109294460	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		109294460	25712056	13	3305											
BRCA2	675	broad.mit.edu	37	chr13	32937551	32937551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttagatcctcccctcttaGctgtcttaaagaatggcaga	8	10	2	3			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr13:32937551G>T	uc001uub.1	+	17	8439	c.8212G>T	c.(8212-8214)Gct>Tct	p.A2738S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2738					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCCCCTCTTAGCTGTCTTAAA	0.458			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			27	80					0	0	1	0	0	T	32937551	G	T	32937551	3	4	190	1	0	0	0	0	1	0	0	0	1499	971	34	4	8278	4	BRCA2	13	32937551	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		32937551	82232327	14	3306											
NYNRIN	57523	broad.mit.edu	37	chr14	24877450	24877450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggagctgctgctgagcCtggtgcgggatgctgcgggc	18	11	0	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr14:24877450C>T	uc001wpf.4	+	2	892	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	192					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCTGAGCCTGGTGCGGGA	0.652													6	15					0	0	1	0	0	T	24877450	C	T	24877450	2	4	190	1	0	0	0	0	0	0	0	1	10796	680	24	2		2	NYNRIN	14	24877450	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		24877450	82472090	15	3307											
STOML1	9399	broad.mit.edu	37	chr15	74282792	74282792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggagggccagctctggGgtacatctgcaggtgagagc	18	9	2	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74282792G>A	uc002awe.3	-	1	211	c.140C>T	c.(139-141)cCc>cTc	p.P47L	STOML1_uc002awf.3_Missense_Mutation_p.P47L|STOML1_uc010bje.3_Missense_Mutation_p.P47L|STOML1_uc010uld.2_Missense_Mutation_p.P5L|STOML1_uc002awh.3_Missense_Mutation_p.P47L|STOML1_uc002awg.3_Missense_Mutation_p.P47L	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	47						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCAGCTCTGGGGTACATCTGC	0.582													3	25					0	0	1	0	0	A	74282792	G	A	74282792	3	1	190	1	0	0	0	0	1	0	0	0	15312	1232	43	2	1080	2	STOML1	15	74282792	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		74282792	28248600	16	3308											
ARID3B	10620	broad.mit.edu	37	chr15	74883967	74883967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcccgtgaccttggcaaGccagcaggctggtactcgga	14	12	0	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74883967G>A	uc002aye.3	+	6	1433	c.1232G>A	c.(1231-1233)aGc>aAc	p.S411N	ARID3B_uc002ayd.3_Missense_Mutation_p.S411N|ARID3B_uc010bjs.1_Missense_Mutation_p.S116N	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCTTGGCAAGCCAGCAGGCT	0.617													8	7					0	0	1	0	0	A	74883967	G	A	74883967	3	1	190	1	0	0	0	0	1	0	0	0	917	971	34	2	1254	2	ARID3B	15	74883967	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	601175	74883967	27647425	17	3309											
MESDC2	23184	broad.mit.edu	37	chr15	81282072	81282072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcagtagcagcagcaGcagcaggtcagaggcacaaa	14	9	1	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:81282072G>A	uc002bfy.1	-	0	134	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	21	Chaperone domain (By similarity).				Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						agcagcagcagcagcagGTCA	0.682													4	18					0	0	1	0	0	A	81282072	G	A	81282072	2	1	190	1	0	0	0	0	0	0	0	1	9481	962	34	2		2	MESDC2	15	81282072	Silent	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	6398105	81282072	21249320	18	3310											
KRT36	8689	broad.mit.edu	37	chr17	39643690	39643690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggcagcactgcagctgCtccgagctggacaccacctg	12	15	1	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:39643690C>T	uc002hwt.3	-	4	900	c.900G>A	c.(898-900)gaG>gaA	p.E300E		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	300	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACTGCAGCTGCTCCGAGCTGG	0.587													7	34					0	0	1	0	0	T	39643690	C	T	39643690	2	4	190	1	0	0	0	0	0	0	0	1	8473	796	28	2		2	KRT36	17	39643690	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		39643690	41551520	19	3311											
ABCA6	23460	broad.mit.edu	37	chr17	67102297	67102297	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagagaaggaagagtgagcCagctccatttcattgaggct	12	8	2	4			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:67102297C>A	uc002jhw.1	-	18	2620	c.2445G>T	c.(2443-2445)ctG>ctT	p.L815L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	815					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGAGTGAGCCAGCTCCATTT	0.413													17	60					0	0	1	0	0	A	67102297	C	A	67102297	2	1	190	1	0	0	0	0	0	0	0	1	36	581	21	4		4	ABCA6	17	67102297	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	27458607	67102297	14092913	20	3312											
SEMA6B	10501	broad.mit.edu	37	chr19	4552537	4552537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtagaaatgggagtctcCgggtacagagcagttgagcc	15	7	1	3			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:4552537C>T	uc010dud.2	-	9	1148	c.886G>A	c.(886-888)Gga>Aga	p.G296R	SEMA6B_uc010xih.1_Missense_Mutation_p.G296R	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	296	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAGTCTCCGGGTACAGAG	0.652													9	25					0	0	1	0	0	T	4552537	C	T	4552537	3	4	190	1	0	0	0	0	1	0	0	0	14040	661	23	1	1812	1	SEMA6B	19	4552537	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		4552537	54576446	21	3313											
PRKCSH	5589	broad.mit.edu	37	chr19	11559445	11559445	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacgagctcaccaccaacgaGtgcgtcccaggaatgcaggg	12	13	1	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:11559445G>T	uc010xlz.2	+	14	1622	c.1286_splice	c.e14+1	p.E429_splice	PRKCSH_uc002mrt.3_Splice_Site_p.E422_splice|PRKCSH_uc002mru.3_Splice_Site_p.E419_splice|PRKCSH_uc010dyb.3_Splice_Site_p.E419_splice	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	422	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCACCAACGAGTGCGTCCCAG	0.617													24	64					0	0	1	0	0	T	11559445	G	T	11559445	5	4	190	1	0	0	0	0	0	0	1	0	12516	1043	36	4	1337	4	PRKCSH	19	11559445	Splice_Site	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	7006908	11559445	47569538	22	3314											
NPHS1	4868	broad.mit.edu	37	chr19	36342241	36342241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacctggcactcatactccGcgtcatcgctgaggtcacag	10	15	3	1			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:36342241G>T	uc002oby.3	-	2	476	c.320C>A	c.(319-321)gCg>gAg	p.A107E		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	107	Ig-like C2-type 1.		A -> T (in NPHS1).|A -> V (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCATACTCCGCGTCATCGCT	0.642													10	15					0	0	1	0	0	T	36342241	G	T	36342241	3	4	190	1	0	0	0	0	1	0	0	0	10582	1087	38	4	3513	4	NPHS1	19	36342241	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	24782796	36342241	22786742	23	3315											
TTC3	7267	broad.mit.edu	37	chr21	38558091	38558091	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcaaattaagcttaaAtttatttttaatatatttta	3	3	1	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr21:38558091A>G	uc002ywd.1	+	9	2102	c.2034A>G	c.(2032-2034)aaA>aaG	p.K678K	TTC3_uc002yvz.3_Intron|TTC3_uc002ywa.3_Intron|TTC3_uc002ywb.3_Intron|TTC3_uc010gnf.3_Intron|TTC3_uc002ywc.3_Intron	NM_003316	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 1, mRNA.	0					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.I677M(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTAAGCttaaatttattttta	0.279													9	15					0	0	1	0	0	G	38558091	A	G	38558091	2	3	190	1	0	0	0	0	0	0	0	1	16694	116	4	3		3	TTC3	21	38558091	Silent	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08		38558091	9571804	24	3316											
NHS	4810	broad.mit.edu	37	chrX	17742462	17742462	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtatacgctgctctctggtTcattcacaatcggtactaca	7	11	3	0			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:17742462T>A	uc011mix.2	+	5	1490	c.1152T>A	c.(1150-1152)gtT>gtA	p.V384V	NHS_uc004cxx.3_Silent_p.V363V|NHS_uc004cxy.3_Silent_p.V207V|NHS_uc004cxz.3_Silent_p.V186V|NHS_uc004cya.3_Silent_p.V86V	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	363						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCTCTCTGGTTCATTCACAAT	0.423													40	120					0	0	1	0	0	A	17742462	T	A	17742462	2	1	190	1	0	0	0	0	0	0	0	1	10411	1770	62	5		5	NHS	23	17742462	Silent	SNP	T	TCGA-EL-A3H5-01A-11D-A202-08		17742462	137528098	25	3317											
USP9X	8239	broad.mit.edu	37	chrX	41075213	41075213	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttgctatacaactaaAgcgatttgactatgactggg	9	7	1	2			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:41075213A>C	uc004dfb.3	+	34	6026	c.5393A>C	c.(5392-5394)aAg>aCg	p.K1798T	USP9X_uc004dfc.3_Missense_Mutation_p.K1798T	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1798					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATACAACTAAAGCGATTTGAC	0.363													35	70					0	0	1	0	0	C	41075213	A	C	41075213	3	2	190	1	0	0	0	0	1	0	0	0	17087	72	3	5	5527	5	USP9X	23	41075213	Missense_Mutation	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08	23332751	41075213	114195347	26	3318											
NGFRAP1	27018	broad.mit.edu	37	chrX	102632483	102632483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaatggagaggaagacCgccctttgggaggaggtgaa	17	6	0	4			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:102632483C>T	uc004eki.3	+	2	446	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	NGFRAP1_uc004ekh.3_Missense_Mutation_p.R12C|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R22C	NM_206915	NP_996800	Q00994	BEX3_HUMAN	Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA.	22					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	p.D21D(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGAGGAAGACCGCCCTTTGGG	0.498													66	251					0	0	1	0	0	T	102632483	C	T	102632483	3	4	190	1	0	0	0	0	1	0	0	0	10397	652	23	1	66	1	NGFRAP1	23	102632483	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	61557270	102632483	52638077	27	3319											
PEX10	5192	broad.mit.edu	37	chr1	2341873	2341873	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcaacctccttcctccactCcagccacttcctcgcacctg	3	22	1	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr1:2341873C>G	uc001ajg.3	-	1	199	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	PEX10_uc001ajh.3_Missense_Mutation_p.E44Q	NM_153818	NP_722540	O60683	PEX10_HUMAN	Homo sapiens peroxisomal biogenesis factor 10 (PEX10), transcript variant 1, mRNA.	44					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein C-terminus binding|protein binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TTCCTCCACTCCAGCCACTTC	0.592													4	72					0	0	1	0	0	G	2341873	C	G	2341873	3	3	191	1	0	0	0	0	1	0	0	0	11736	864	30	4	930	4	PEX10	1	2341873	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		2341873	246908748	1	3320											
TAS1R2	80834	broad.mit.edu	37	chr1	19181248	19181248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgcagtgtgggcagcGtctcctggaaggcgatgcag	18	9	1	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr1:19181248G>A	uc001bba.1	-	2	717	c.716C>T	c.(715-717)aCg>aTg	p.T239M		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	239					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTGGGCAGCGTCTCCTGGAA	0.642													12	15					0	0	1	0	0	A	19181248	G	A	19181248	3	1	191	1	0	0	0	0	1	0	0	0	15560	1145	40	1	1819	1	TAS1R2	1	19181248	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	16839375	19181248	230069373	2	3321											
TTN	7273	broad.mit.edu	37	chr2	179579858	179579858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatcttgtacttcttgccGctcctaagttctctcttgtc	5	12	4	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr2:179579858G>A	uc021vsy.1	-	86	22548	c.22323C>T	c.(22321-22323)agC>agT	p.S7441S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S4102S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8368	Ig-like 56.			S -> N (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCTTGCCGCTCCTAAGTT	0.443													8	290					0	0	1	0	0	A	179579858	G	A	179579858	2	1	191	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179579858	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		179579858	63619515	3	3322											
HHLA2	11148	broad.mit.edu	37	chr3	108076828	108076828	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctctgtcctggcttactatCtgagctcctcacaaaataca	5	13	3	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr3:108076828C>G	uc003dwy.4	+	5	990	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V	HHLA2_uc011bhl.2_Missense_Mutation_p.L211V|HHLA2_uc010hpu.3_Missense_Mutation_p.L275V|HHLA2_uc003dwz.3_Missense_Mutation_p.L275V	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	275	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGCTTACTATCTGAGCTCCTC	0.373													18	103					0	0	1	0	0	G	108076828	C	G	108076828	3	3	191	1	0	0	0	0	1	0	0	0	7095	912	32	4	837	4	HHLA2	3	108076828	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		108076828	89945602	4	3323											
PCDHAC2	56134	broad.mit.edu	37	chr5	140222759	140222759	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagccagctgcaagcagccCtcgcatcccgttccgcgtgg	12	17	0	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr5:140222759C>G	uc003lhs.2	+	0	1853	c.1853C>G	c.(1852-1854)cCt>cGt	p.P618R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P618R	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCAGCCCTCGCATCCCG	0.677													8	223					0	0	1	0	0	G	140222759	C	G	140222759	3	3	191	1	0	0	0	0	1	0	0	0	11533	681	24	4		4	PCDHAC2	5	140222759	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		140222759	40692501	5	3324											
RNF216	54476	broad.mit.edu	37	chr7	5662664	5662664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacacaggccgcacgggagGcagggggaagggtgggtgcg	22	8	0	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:5662664G>T	uc003sox.2	-	16	2858	c.2599C>A	c.(2599-2601)Cct>Act	p.P867T	RNF216_uc010ksz.2_Missense_Mutation_p.P432T|RNF216_uc010kta.2_Missense_Mutation_p.P432T|RNF216_uc003soy.2_Missense_Mutation_p.P810T|RNF216_uc011jwj.2_Missense_Mutation_p.P432T	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	810					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CGCACGGGAGGCAGGGGGAAG	0.647													54	110					0	0	1	0	0	T	5662664	G	T	5662664	3	4	191	1	0	0	0	0	1	0	0	0	13480	1203	42	4	176	4	RNF216	7	5662664	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		5662664	153475999	6	3325											
ZAN	7455	broad.mit.edu	37	chr7	100377342	100377342	+	Frame_Shift_Del	DEL	C	C	-													gccagagccaggggctcaagCccccactctggagaaacagc							TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:100377342delC	uc003uwj.3	+	35	6754	c.6589delC	c.(6589-6591)cccfs	p.P2197fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.P2197fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2198					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGGCTCAAGCCCCCACTCTG	0.627													2	4	---	---	---	---						-	100377342	C	-	100377342	7	5	191	1	0	1	0	1	0	0	0	0	17510	739	26	0	6725	0	ZAN	7	100377342	Frame_Shift_Del	DEL	C	TCGA-EL-A3H7-01A-11D-A21A-08	94714678	100377342	58761321	7	3326											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	52					0	0	1	0	0	T	140453136	A	T	140453136	3	4	191	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08	40075794	140453136	18685527	8	3327											
GPT	2875	broad.mit.edu	37	chr8	145732033	145732033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgcgggcggtggagcgCgctcaggtcaggcgggggcg	21	14	2	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr8:145732033C>T	uc003zdh.4	+	8	1504	c.1281C>T	c.(1279-1281)cgC>cgT	p.R427R	MFSD3_uc003zdi.1_5'Flank	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	427					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGGTGGAGCGCGCTCAGGTCA	0.731													7	9					0	0	1	0	0	T	145732033	C	T	145732033	2	4	191	1	0	0	0	0	0	0	0	1	6737	755	27	1		1	GPT	8	145732033	Silent	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		145732033	631989	9	3328											
ERMP1	79956	broad.mit.edu	37	chr9	5832860	5832861	+	Frame_Shift_Ins	INS	-	-	C													ccctgctcgcgccgccgctaINScccccggggctcctcttccg							TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr9:5832860_5832861insC	uc003zjm.1	-	0	221_222	c.167_168insG	c.(166-168)ggtfs	p.G56fs	ERMP1_uc022bdc.1_5'Flank|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Frame_Shift_Ins_p.G56fs	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	56					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CGCCGCCGCTACCCCCGGGGCT	0.787													2	4	---	---	---	---						C	5832861	-	C	5832860	7	5	191	1	0	1	1	0	0	0	0	0	5236	378	14	0	2606	0	ERMP1	9	5832860	Frame_Shift_Ins	INS	-	TCGA-EL-A3H7-01A-11D-A21A-08		5832860	135380571	10	3329											
BRD3	8019	broad.mit.edu	37	chr9	136915622	136915622	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttggtacaggggtggcagcGatgacgggcgtctgggagac	20	7	1	2	rs142203601	byFrequency	TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr9:136915622G>A	uc004cew.3	-	4	776	c.588C>T	c.(586-588)atC>atT	p.I196I	BRD3_uc004cex.2_Silent_p.I196I	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	196						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGTGGCAGCGATGACGGGCG	0.662			T	C15orf55	lethal midline carcinoma of young people								15	214					0	0	1	0	0	A	136915622	G	A	136915622	2	1	191	1	0	0	0	0	0	0	0	1	1503	1048	37	1		1	BRD3	9	136915622	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	131082762	136915622	4297809	11	3330											
KLF6	1316	broad.mit.edu	37	chr10	3824179	3824179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagctgtcagaggattcGctgctgacatctgagttcag	13	9	3	3			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:3824179G>A	uc001iha.3	-	1	597	c.330C>T	c.(328-330)agC>agT	p.S110S	KLF6_uc010qaj.2_Silent_p.S110S|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Silent_p.S110S|KLF6_uc001ihb.2_Silent_p.S110S	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	110					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CAGAGGATTCGCTGCTGACAT	0.517											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	298					0	0	1	0	0	A	3824179	G	A	3824179	2	1	191	1	0	0	0	0	0	0	0	1	8350	1078	38	1		1	KLF6	10	3824179	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		3824179	131710568	12	3331											
A1CF	29974	broad.mit.edu	37	chr10	52569681	52569681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtagcagcagcagcagCagtagccatggtgccatcgc	13	12	0	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:52569681C>T	uc010qho.2	-	13	2030	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	A1CF_uc010qhn.2_Missense_Mutation_p.A536T|A1CF_uc009xov.3_Missense_Mutation_p.A528T|A1CF_uc001jjj.3_Missense_Mutation_p.A536T|A1CF_uc001jji.3_Missense_Mutation_p.A528T|A1CF_uc001jjh.3_Missense_Mutation_p.A536T	NM_001198819	NP_001185748	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 5, mRNA.	536					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						gcagcagcagcagtagcCATG	0.527													4	105					0	0	1	0	0	T	52569681	C	T	52569681	3	4	191	1	0	0	0	0	1	0	0	0	2	710	25	2	186	2	A1CF	10	52569681	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08	48745502	52569681	82965066	13	3332											
INPP5F	22876	broad.mit.edu	37	chr10	121586462	121586462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgtcttcagataatgacTcataccactctgatgaattc	5	10	4	4			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:121586462T>C	uc001leo.3	+	19	2785	c.2569T>C	c.(2569-2571)Tca>Cca	p.S857P	INPP5F_uc001lep.3_Missense_Mutation_p.S247P	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	857							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGATAATGACTCATACCACTC	0.408													47	78					0	0	1	0	0	C	121586462	T	C	121586462	3	2	191	1	0	0	0	0	1	0	0	0	7758	1551	54	3	2647	3	INPP5F	10	121586462	Missense_Mutation	SNP	T	TCGA-EL-A3H7-01A-11D-A21A-08	69016781	121586462	13948285	14	3333											
MUC5B	727897	broad.mit.edu	37	chr11	1281040	1281040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggagtgcgtccagaccGcctgcctcacgcccgatggc	15	15	1	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:1281040G>A	uc001lta.3	+	44	16827	c.16768G>A	c.(16768-16770)Gcc>Acc	p.A5590T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5590					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGTCCAGACCGCCTGCCTCAC	0.657													10	119					0	0	1	0	0	A	1281040	G	A	1281040	3	1	191	1	0	0	0	0	1	0	0	0	9979	1087	38	1	16955	1	MUC5B	11	1281040	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		1281040	133725476	15	3334											
MARK2	2011	broad.mit.edu	37	chr11	63606995	63606995	+	Frame_Shift_Del	DEL	C	C	-													cgccatgtccagcgctcggaCccccctacccacgctgaacg							TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:63606995delC	uc001nxw.3	+	0	596	c.17delC	c.(16-18)accfs	p.T6fs	MARK2_uc001nxv.4_Frame_Shift_Del_p.T6fs|MARK2_uc001nxx.3_Frame_Shift_Del_p.T6fs|MARK2_uc001nxy.3_Frame_Shift_Del_p.T6fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	6					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCGCTCGGACCCCCCTACCC	0.692													2	4	---	---	---	---						-	63606995	C	-	63606995	7	5	191	1	0	1	0	1	0	0	0	0	9313	507	18	0	19	0	MARK2	11	63606995	Frame_Shift_Del	DEL	C	TCGA-EL-A3H7-01A-11D-A21A-08	62325955	63606995	71399521	16	3335											
PRDM10	56980	broad.mit.edu	37	chr11	129812425	129812425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgattctgggctggccGtacaaacatcatccagttac	10	11	2	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:129812425G>A	uc001qfm.3	-	6	1094	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	PRDM10_uc001qfj.3_Missense_Mutation_p.R202W|PRDM10_uc001qfk.3_Missense_Mutation_p.R202W|PRDM10_uc001qfl.3_Missense_Mutation_p.R202W|PRDM10_uc010sbx.2_Missense_Mutation_p.R202W|PRDM10_uc001qfn.3_Missense_Mutation_p.R288W|PRDM10_uc009zct.1_Missense_Mutation_p.R320W	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	288	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGGGCTGGCCGTACAAACATC	0.453													4	120					0	0	1	0	0	A	129812425	G	A	129812425	3	1	191	1	0	0	0	0	1	0	0	0	12451	1144	40	1	2684	1	PRDM10	11	129812425	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	66205430	129812425	5194091	17	3336											
SERPINE3	647174	broad.mit.edu	37	chr13	51915229	51915229	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccctcccagcctccaTgccgcctttcctgatcaccc	6	20	1	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr13:51915229T>G	uc001vfh.2	+	0	62	c.2T>G	c.(1-3)aTg>aGg	p.M1R	SERPINE3_uc010tgp.2_Missense_Mutation_p.M1R	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	1					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCAGCCTCCATGCCGCCTTTC	0.557													33	60					0	0	1	0	0	G	51915229	T	G	51915229	3	3	191	1	0	0	0	0	1	0	0	0	14113	1464	51	5	4	5	SERPINE3	13	51915229	Missense_Mutation	SNP	T	TCGA-EL-A3H7-01A-11D-A21A-08		51915229	63254649	18	3337											
SLC15A1	6564	broad.mit.edu	37	chr13	99354751	99354751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgattccattttccccTttttctggcttctggttaag	6	11	2	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr13:99354751T>C	uc001vno.3	-	17	1526	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	483					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATTTTCCCCTTTTTCTGGCT	0.284													3	118					0	0	1	0	0	C	99354751	T	C	99354751	2	2	191	1	0	0	0	0	0	0	0	1	14398	1606	56	3		3	SLC15A1	13	99354751	Silent	SNP	T	TCGA-EL-A3H7-01A-11D-A21A-08	47439522	99354751	15815127	19	3338											
ABHD4	63874	broad.mit.edu	37	chr14	23075393	23075393	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgcagacttctttgaagatGataccatatcagagtatatt	7	6	2	5			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr14:23075393G>C	uc001wgm.3	+	4	775	c.706G>C	c.(706-708)Gat>Cat	p.D236H	ABHD4_uc010tna.1_Missense_Mutation_p.M262I|ABHD4_uc010tnb.2_Non-coding_Transcript	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	236					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTTTGAAGATGATACCATATC	0.517													3	28					0	0	1	0	0	C	23075393	G	C	23075393	3	2	191	1	0	0	0	0	1	0	0	0	84	1290	45	4	724	4	ABHD4	14	23075393	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		23075393	84274147	20	3339											
TTLL5	23093	broad.mit.edu	37	chr14	76259282	76259282	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtgctatctaaacaagcatCattcaggaatagccaaaaca	6	10	3	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr14:76259282C>T	uc010ask.2	+	27	3330	c.3055C>T	c.(3055-3057)Cat>Tat	p.H1019Y	TTLL5_uc001xrx.3_Missense_Mutation_p.H1004Y|TTLL5_uc001xrz.3_Missense_Mutation_p.H579Y|TTLL5_uc001xsa.3_Missense_Mutation_p.H78Y	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	1004					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AAACAAGCATCATTCAGGAAT	0.378													12	37					0	0	1	0	0	T	76259282	C	T	76259282	3	4	191	1	0	0	0	0	1	0	0	0	16727	826	29	2	3112	2	TTLL5	14	76259282	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08	53183889	76259282	31090258	21	3340											
USP10	9100	broad.mit.edu	37	chr16	84792342	84792342	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agttgctggagaatgtaaccCtaatccataaaccagtgtcg	9	9	0	1			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr16:84792342C>G	uc010voe.2	+	5	1476	c.1225C>G	c.(1225-1227)Cta>Gta	p.L409V	USP10_uc002fii.3_Missense_Mutation_p.L405V|USP10_uc010vof.2_5'UTR|USP10_uc002fij.3_Intron	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	405					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAATGTAACCCTAATCCATAA	0.438													5	137					0	0	1	0	0	G	84792342	C	G	84792342	3	3	191	1	0	0	0	0	1	0	0	0	17038	680	24	4	1231	4	USP10	16	84792342	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		84792342	5562411	22	3341											
INTS2	57508	broad.mit.edu	37	chr17	59989322	59989322	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accatgcctcggaccttgagGgcctgagaaggattcatttt	11	10	1	2			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr17:59989322G>C	uc002izn.3	-	5	859	c.783C>G	c.(781-783)gcC>gcG	p.A261A	INTS2_uc002izm.3_Silent_p.A253A	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	261					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GGACCTTGAGGGCCTGAGAAG	0.438													9	120					0	0	1	0	0	C	59989322	G	C	59989322	2	2	191	1	0	0	0	0	0	0	0	1	7778	1219	43	4		4	INTS2	17	59989322	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		59989322	21205888	23	3342											
KLHL14	57565	broad.mit.edu	37	chr18	30349967	30349967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggtctcctccaggccGtgcagcgcggcgatcttgca	12	14	3	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr18:30349967G>A	uc002kxm.1	-	1	976	c.588C>T	c.(586-588)caC>caT	p.H196H		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	196						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCTCCAGGCCGTGCAGCGCGG	0.612													4	158					0	0	1	0	0	A	30349967	G	A	30349967	2	1	191	1	0	0	0	0	0	0	0	1	8370	1136	40	1		1	KLHL14	18	30349967	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		30349967	47727281	24	3343											
SETBP1	26040	broad.mit.edu	37	chr18	42530643	42530643	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcaccatgagcagtgaAgtagttaacaggatactttc	10	7	1	2			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr18:42530643A>T	uc010dni.3	+	3	1634	c.1338A>T	c.(1336-1338)gaA>gaT	p.E446D		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	446						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGAGCAGTGAAGTAGTTAACA	0.453									Schinzel-Giedion syndrome				6	98					0	0	1	0	0	T	42530643	A	T	42530643	3	4	191	1	0	0	0	0	1	0	0	0	14129	69	3	5	1541	5	SETBP1	18	42530643	Missense_Mutation	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08	12180676	42530643	35546605	25	3344											
DMPK	1760	broad.mit.edu	37	chr19	46278224	46278224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgagggccatgcaggaGtaggagtagcccacaaaagg	14	9	0	1	rs138445739		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr19:46278224G>A	uc002pdi.1	-	9	1479	c.1293C>T	c.(1291-1293)taC>taT	p.Y431Y	DMPK_uc010xxs.1_Silent_p.Y316Y|DMPK_uc002pdd.1_Silent_p.Y415Y|DMPK_uc002pde.1_Silent_p.Y410Y|DMPK_uc002pdg.1_Silent_p.Y400Y|DMPK_uc002pdf.1_Silent_p.Y405Y|DMPK_uc002pdh.1_Silent_p.Y400Y|DMPK_uc010xxt.1_Silent_p.Y400Y	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	415					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCATGCAGGAGTAGGAGTAGC	0.617													3	70					0	0	1	0	0	A	46278224	G	A	46278224	2	1	191	1	0	0	0	0	0	0	0	1	4584	1024	36	2		2	DMPK	19	46278224	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		46278224	12850759	26	3345											
TM9SF4	9777	broad.mit.edu	37	chr20	30753110	30753110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccgcagctggacatcgtgGagttcatcccctctctcctc	10	16	2	0			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr20:30753110G>A	uc002wxj.2	+	17	2027	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	TM9SF4_uc010zts.1_Missense_Mutation_p.E505K|TM9SF4_uc002wxk.2_Missense_Mutation_p.E581K	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	598						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGACATCGTGGAGTTCATCCC	0.562													30	191					0	0	1	0	0	A	30753110	G	A	30753110	3	1	191	1	0	0	0	0	1	0	0	0	15977	1175	41	2	1862	2	TM9SF4	20	30753110	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		30753110	32272410	27	3346											
IFNAR2	3455	broad.mit.edu	37	chr21	34635187	34635187	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtcatttacatcaacagaaaGaagaaagtgtgggattataa	9	4	2	3			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr21:34635187G>C	uc002yrd.3	+	8	1258	c.930G>C	c.(928-930)aaG>aaC	p.K310N	IFNAR2_uc002yre.3_Missense_Mutation_p.K310N|IFNAR2_uc002yrf.3_3'UTR|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	310					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TCAACAGAAAGAAGAAAGTGT	0.428													18	127					0	0	1	0	0	C	34635187	G	C	34635187	3	2	191	1	0	0	0	0	1	0	0	0	7545	933	33	4	1120	4	IFNAR2	21	34635187	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		34635187	13494708	28	3347											
ZNF41	7592	broad.mit.edu	37	chrX	47308077	47308077	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaggtctgatctctggaaAaaggcttttccacattcact	8	9	3	2			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chrX:47308077A>G	uc004dhs.4	-	3	1285	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	ZNF41_uc004dhu.4_Silent_p.F398F|ZNF41_uc004dht.4_Silent_p.F278F|ZNF41_uc004dhv.4_Silent_p.F374F|ZNF41_uc004dhw.4_Silent_p.F366F|ZNF41_uc004dhy.4_Silent_p.F364F|ZNF41_uc004dhx.4_Silent_p.F364F|ZNF41_uc011mlm.2_Silent_p.F278F	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	406						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATCTCTGGAAAAAGGCTTTTC	0.403													23	44					0	0	1	0	0	G	47308077	A	G	47308077	2	3	191	1	0	0	0	0	0	0	0	1	17886	11	1	3		3	ZNF41	23	47308077	Silent	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08		47308077	107962483	29	3348											
FAM120C	54954	broad.mit.edu	37	chrX	54209023	54209023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcggtggaggggtgcccttGttgcccacgtgtcccacgat	15	13	0	0	rs144201658		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chrX:54209023G>T	uc004dsz.4	-	0	692	c.609C>A	c.(607-609)aaC>aaA	p.N203K	FAM120C_uc011moh.2_Missense_Mutation_p.N203K|FAM120C_uc004dta.2_Missense_Mutation_p.N203K	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	203										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGTGCCCTTGTTGCCCACGT	0.706													20	39					0	0	1	0	0	T	54209023	G	T	54209023	3	4	191	1	0	0	0	0	1	0	0	0	5418	1368	48	4	2767	4	FAM120C	23	54209023	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	6900946	54209023	101061537	30	3349											
CACNA1E	777	broad.mit.edu	37	chr1	181735734	181735734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttcttcatttatgccaTcattgggatgcaggtgagct	10	8	3	1			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr1:181735734T>C	uc009wxt.3	+	34	5063	c.4868T>C	c.(4867-4869)aTc>aCc	p.I1623T	CACNA1E_uc001gow.3_Missense_Mutation_p.I1623T|CACNA1E_uc009wxs.3_Missense_Mutation_p.I1604T|CACNA1E_uc001gox.1_Missense_Mutation_p.I849T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1623					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTTATGCCATCATTGGGATG	0.478													10	9					0	0	1	0	0	C	181735734	T	C	181735734	3	2	192	1	0	0	0	0	1	0	0	0	2542	1435	50	3	5006	3	CACNA1E	1	181735734	Missense_Mutation	SNP	T	TCGA-EL-A3H8-01A-11D-A20C-08		181735734	67514887	1	3350											
SNAP47	116841	broad.mit.edu	37	chr1	227935556	227935556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggttcatgactgacaGcactggagagattctggtca	12	9	4	3			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr1:227935556G>A	uc001hrf.2	+	1	668	c.254G>A	c.(253-255)aGc>aAc	p.S85N	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.S85N|SNAP47_uc001hre.3_Intron	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	85				DST -> TRP (in Ref. 5; AAH01332).		endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATGACTGACAGCACTGGAGAG	0.527													3	37					0	0	1	0	0	A	227935556	G	A	227935556	3	1	192	1	0	0	0	0	1	0	0	0	14832	971	34	2	260	2	SNAP47	1	227935556	Missense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08	46199822	227935556	21315065	2	3351											
LRP1B	53353	broad.mit.edu	37	chr2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcgactgccattgggtcGgctagaatcgatccaataga	11	9	0	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr2:141245239G>A	uc002tvj.1	-	57	10162	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3064					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTGGGTCGGCTAGAATCG	0.313										TSP Lung(27;0.18)			6	86					0	0	1	0	0	A	141245239	G	A	141245239	4	1	192	1	0	0	0	0	0	1	0	0	8955	1124	39	1	4745	1	LRP1B	2	141245239	Nonsense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		141245239	101954134	3	3352											
UROC1	131669	broad.mit.edu	37	chr3	126226844	126226844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgagccgtggggcactgCggctgctgggaaagaggcca	18	10	0	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr3:126226844C>T	uc010hsi.2	-	4	560	c.506G>A	c.(505-507)cGc>cAc	p.R169H	UROC1_uc003eiz.2_Missense_Mutation_p.R169H	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	169					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGGGCACTGCGGCTGCTGGG	0.597													13	153					0	0	1	0	0	T	126226844	C	T	126226844	3	4	192	1	0	0	0	0	1	0	0	0	17025	768	27	1	1772	1	UROC1	3	126226844	Missense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08		126226844	71795586	4	3353											
BRIX1	55299	broad.mit.edu	37	chr5	34922857	34922857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaggttctcggccccTtttgtcttttgaccctgtaa	8	10	2	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr5:34922857T>C	uc003jja.3	+	5	518	c.494T>C	c.(493-495)cTt>cCt	p.L165P	BRIX1_uc011col.1_Missense_Mutation_p.L165P	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.	165	Brix.				ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TCTCGGCCCCTTTTGTCTTTT	0.343													3	160					0	0	1	0	0	C	34922857	T	C	34922857	3	2	192	1	0	0	0	0	1	0	0	0	1515	1609	56	3	516	3	BRIX1	5	34922857	Missense_Mutation	SNP	T	TCGA-EL-A3H8-01A-11D-A20C-08		34922857	145992403	5	3354											
EBF1	1879	broad.mit.edu	37	chr5	158141175	158141175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaccagatccgcagcccTtttgagtattacttcctgtc	6	13	1	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr5:158141175T>C	uc011ddx.2	-	11	1446	c.1144A>G	c.(1144-1146)Agg>Ggg	p.R382G	EBF1_uc011ddw.2_Missense_Mutation_p.R249G|EBF1_uc010jip.3_Missense_Mutation_p.R381G|EBF1_uc003lxl.4_Missense_Mutation_p.R350G	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	381					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.R381M(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGCAGCCCTTTTGAGTATT	0.478			T	HMGA2	lipoma								4	256					0	0	1	0	0	C	158141175	T	C	158141175	3	2	192	1	0	0	0	0	1	0	0	0	4880	1608	56	3	654	3	EBF1	5	158141175	Missense_Mutation	SNP	T	TCGA-EL-A3H8-01A-11D-A20C-08	123218318	158141175	22774085	6	3355											
E2F3	1871	broad.mit.edu	37	chr6	20402610	20402610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgccgccgccgccgcCgctgccgccgccccgggcgc	15	23	0	0			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr6:20402610C>T	uc003nda.2	+	0	474	c.147C>T	c.(145-147)gcC>gcT	p.A49A	E2F3_uc003ncz.2_Silent_p.A49A|E2F3_uc021ymj.1_5'Flank	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	49	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741													3	48					0	0	1	0	0	T	20402610	C	T	20402610	2	4	192	1	0	0	0	0	0	0	0	1	4868	639	23	1		1	E2F3	6	20402610	Silent	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08		20402610	150712457	7	3356											
TDRD6	221400	broad.mit.edu	37	chr6	46658465	46658465	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgtgaagaatatttattCaattagtgaagaatttctga	7	3	3	5			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr6:46658465C>A	uc003oyj.3	+	0	2854	c.2600C>A	c.(2599-2601)tCa>tAa	p.S867*	TDRD6_uc010jze.3_Nonsense_Mutation_p.S867*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	867	Tudor 4.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATATTTATTCAATTAGTGAA	0.368													4	94					0	0	1	0	0	A	46658465	C	A	46658465	4	1	192	1	0	0	0	0	0	1	0	0	15731	838	29	4	2602	4	TDRD6	6	46658465	Nonsense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	26255855	46658465	124456602	8	3357											
C1GALT1	56913	broad.mit.edu	37	chr7	7283195	7283195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcagtttcttttcactAtgttgattctacaaccatgt	5	9	4	1			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr7:7283195A>G	uc003srb.2	+	3	1152	c.929A>G	c.(928-930)tAt>tGt	p.Y310C	C1GALT1_uc003sra.3_Missense_Mutation_p.Y310C	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	310					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCTTTTCACTATGTTGATTCT	0.353													5	160					0	0	1	0	0	G	7283195	A	G	7283195	3	3	192	1	0	0	0	0	1	0	0	0	1952	449	16	3	939	3	C1GALT1	7	7283195	Missense_Mutation	SNP	A	TCGA-EL-A3H8-01A-11D-A20C-08		7283195	151855468	9	3358											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	60					0	0	1	0	0	T	140453136	A	T	140453136	3	4	192	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H8-01A-11D-A20C-08	133169941	140453136	18685527	10	3359											
ANKRD42	338699	broad.mit.edu	37	chr11	82935987	82935987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttttaaaagctttcaAtgataatggagaaaatgtac	8	4	1	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr11:82935987A>G	uc010rsv.1	+	5	1099	c.677A>G	c.(676-678)aAt>aGt	p.N226S	ANKRD42_uc001ozz.1_Missense_Mutation_p.N198S|ANKRD42_uc001paa.3_Missense_Mutation_p.N226S|ANKRD42_uc001pab.1_Missense_Mutation_p.N225S			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	198										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AAAGCTTTCAATGATAATGGA	0.423													48	74					0	0	1	0	0	G	82935987	A	G	82935987	3	3	192	1	0	0	0	0	1	0	0	0	670	101	4	3	615	3	ANKRD42	11	82935987	Missense_Mutation	SNP	A	TCGA-EL-A3H8-01A-11D-A20C-08		82935987	52070529	11	3360											
RASGRP1	10125	broad.mit.edu	37	chr15	38791143	38791143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgacagttcatcccGcagtctgtggacaagacatc	10	10	2	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr15:38791143G>A	uc001zke.4	-	14	1903	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Silent_p.C402C|RASGRP1_uc010bbg.3_Intron|RASGRP1_uc001zkd.4_Silent_p.C540C	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	575					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTCATCCCGCAGTCTGTGG	0.468													5	387					0	0	1	0	0	A	38791143	G	A	38791143	2	1	192	1	0	0	0	0	0	0	0	1	13074	1079	38	1		1	RASGRP1	15	38791143	Silent	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		38791143	63740249	12	3361											
MRPL46	26589	broad.mit.edu	37	chr15	89010506	89010506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgcttgagggtgcggctgCaagagccaggctgcgagagc	18	9	0	3			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr15:89010506C>A	uc002bmj.2	-	0	128	c.103G>T	c.(103-105)Gca>Tca	p.A35S	MRPL46_uc002bmi.1_5'Flank|MRPS11_uc002bmm.3_5'Flank|MRPS11_uc002bmn.3_5'Flank|MRPS11_uc010bnj.3_5'Flank|MRPS11_uc002bml.3_5'Flank	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	35						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GGTGCGGCTGCAAGAGCCAGG	0.677													3	15					0	0	1	0	0	A	89010506	C	A	89010506	3	1	192	1	0	0	0	0	1	0	0	0	9810	710	25	4	752	4	MRPL46	15	89010506	Missense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	50219363	89010506	13520886	13	3362											
DNAH2	146754	broad.mit.edu	37	chr17	7736520	7736520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttccggcctgcagagagCcgcaagaagagcgccaaggg	14	13	0	3			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:7736520C>A	uc002giu.1	+	83	13124	c.13110C>A	c.(13108-13110)agC>agA	p.S4370R		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4370					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGCAGAGAGCCGCAAGAAGA	0.622													6	49					0	0	1	0	0	A	7736520	C	A	7736520	3	1	192	1	0	0	0	0	1	0	0	0	4602	738	26	4	13444	4	DNAH2	17	7736520	Missense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08		7736520	73458690	14	3363											
MTMR4	9110	broad.mit.edu	37	chr17	56572506	56572506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcactggagaagggcaGttcagtggaacgggctttgt	18	6	1	1			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:56572506G>A	uc002iwj.2	-	15	3107	c.2997C>T	c.(2995-2997)aaC>aaT	p.N999N		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	999						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAAGGGCAGTTCAGTGGAA	0.507													5	259					0	0	1	0	0	A	56572506	G	A	56572506	2	1	192	1	0	0	0	0	0	0	0	1	9946	1020	36	2		2	MTMR4	17	56572506	Silent	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08	48835986	56572506	24622704	15	3364											
ZNF446	55663	broad.mit.edu	37	chr19	58992084	58992084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagggccaccggccggaGgttccatgagcagccagaca	14	14	0	2			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr19:58992084G>A	uc002qsz.3	+	6	1461	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E	ZNF446_uc002qta.3_3'UTR|ZNF446_uc010eur.3_3'UTR|SLC27A5_uc002qtb.3_Non-coding_Transcript	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	Homo sapiens zinc finger protein 446 (ZNF446), mRNA.	448					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACCGGCCGGAGGTTCCATGAG	0.657													4	99					0	0	1	0	0	A	58992084	G	A	58992084	2	1	192	1	0	0	0	0	0	0	0	1	17916	991	35	2		2	ZNF446	19	58992084	Silent	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		58992084	136899	16	3365											
PLP1	5354	broad.mit.edu	37	chrX	103042754	103042754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcacctatgccctgaccGttgtgtggctcctggtgttt	11	12	1	1	rs11543023		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chrX:103042754G>A	uc010nov.3	+	4	761	c.481G>A	c.(481-483)Gtt>Att	p.V161I	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.V161I|PLP1_uc004elj.3_Missense_Mutation_p.V126I|PLP1_uc011msf.2_Missense_Mutation_p.V106I|PLP1_uc010nox.3_Missense_Mutation_p.V115I	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	161			Missing (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TGCCCTGACCGTTGTGTGGCT	0.507													5	230					0	0	1	0	0	A	103042754	G	A	103042754	3	1	192	1	0	0	0	0	1	0	0	0	12104	1145	40	1	495	1	PLP1	23	103042754	Missense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		103042754	52227806	17	3366											
FUNDC2	65991	broad.mit.edu	37	chrX	154282927	154282927	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggatttttcggaggctttCtgcttggcatggcatcctaa	13	8	1	0			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chrX:154282927C>T	uc004fmw.3	+	4	700	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA.	184						mitochondrion		p.L184V(2)|p.L184L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGGCTTTCTGCTTGGCAT	0.448													11	253					0	0	1	0	0	T	154282927	C	T	154282927	2	4	192	1	0	0	0	0	0	0	0	1	6098	912	32	2		2	FUNDC2	23	154282927	Silent	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	51240173	154282927	987633	18	3367											
VIL1	7429	broad.mit.edu	37	chr2	219299353	219299353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctttgaggtcccagcGcgggccaatttcctcaattc	10	13	1	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr2:219299353G>A	uc002via.3	+	13	1670	c.1605G>A	c.(1603-1605)gcG>gcA	p.A535A	VIL1_uc010zke.2_Silent_p.A224A|VIL1_uc002vib.3_Silent_p.A535A	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	535	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCCCAGCGCGGGCCAATT	0.567													4	118					0	0	1	0	0	A	219299353	G	A	219299353	2	1	193	1	0	0	0	0	0	0	0	1	17161	1074	38	1		1	VIL1	2	219299353	Silent	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		219299353	23900020	1	3368											
PGM2	55276	broad.mit.edu	37	chr4	37836265	37836265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagatacctggaaaaacAattcagtgacttaaagcaga	8	7	1	3			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr4:37836265A>G	uc011byb.1	+	2	348	c.275A>G	c.(274-276)cAa>cGa	p.Q92R	PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	92					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTGGAAAAACAATTCAGTGAC	0.343													88	112					0	0	1	0	0	G	37836265	A	G	37836265	3	3	193	1	0	0	0	0	1	0	0	0	11798	130	5	3	285	3	PGM2	4	37836265	Missense_Mutation	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08		37836265	153318011	2	3369											
TMEM63B	55362	broad.mit.edu	37	chr6	44119647	44119647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattgcctcagcctttatcGgcaacgccatggacctgctg	9	14	2	0			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr6:44119647G>T	uc003owr.3	+	18	1802	c.1738G>T	c.(1738-1740)Ggc>Tgc	p.G580C	TMEM63B_uc003ows.3_Missense_Mutation_p.G483C|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	580						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGCCTTTATCGGCAACGCCAT	0.642											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	58					0	0	1	0	0	T	44119647	G	T	44119647	3	4	193	1	0	0	0	0	1	0	0	0	16188	1116	39	4	1808	4	TMEM63B	6	44119647	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		44119647	126995420	3	3370											
ZCWPW1	55063	broad.mit.edu	37	chr7	100014704	100014704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacccattagcattatcaGtatcagtagcagaagcagta	7	9	2	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr7:100014704G>A	uc003uut.3	-	5	712	c.464C>T	c.(463-465)aCt>aTt	p.T155I	ZCWPW1_uc011kjq.2_Missense_Mutation_p.T34I|ZCWPW1_uc003uur.3_Missense_Mutation_p.T34I|ZCWPW1_uc003uus.3_Missense_Mutation_p.T34I|ZCWPW1_uc011kjr.2_Missense_Mutation_p.T154I|ZCWPW1_uc003uuu.1_Missense_Mutation_p.T154I	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	155							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCATTATCAGTATCAGTAGC	0.433													12	266					0	0	1	0	0	A	100014704	G	A	100014704	3	1	193	1	0	0	0	0	1	0	0	0	17594	1029	36	2	1534	2	ZCWPW1	7	100014704	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		100014704	59123959	4	3371											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	44					0	0	1	0	0	T	140453136	A	T	140453136	3	4	193	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08	40438432	140453136	18685527	5	3372											
GIT2	9815	broad.mit.edu	37	chr12	110433982	110433982	+	Frame_Shift_Del	DEL	C	C	-													ggccggtgcgactcacccggCccgctgcagtcagcgcacac							TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr12:110433982delC	uc001tps.2	-	0	213	c.48delG	c.(46-48)gggfs	p.G16fs	GIT2_uc001tpq.2_Frame_Shift_Del_p.G16fs|GIT2_uc001tpv.2_Frame_Shift_Del_p.G16fs|GIT2_uc001tpu.2_Frame_Shift_Del_p.G16fs|GIT2_uc001tpt.2_Frame_Shift_Del_p.G16fs|GIT2_uc010sxu.1_5'UTR|GIT2_uc001tpw.3_Frame_Shift_Del_p.G16fs|GIT2_uc010sxv.1_Frame_Shift_Del_p.G16fs	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	16	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ACTCACCCGGCCCGCTGCAGT	0.731													2	4	---	---	---	---						-	110433982	C	-	110433982	7	5	193	1	0	1	0	1	0	0	0	0	6397	726	26	0	2349	0	GIT2	12	110433982	Frame_Shift_Del	DEL	C	TCGA-EL-A3MW-01A-11D-A20C-08		110433982	23417913	6	3373											
KSR2	283455	broad.mit.edu	37	chr12	117962864	117962864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaagcggccctttccaatgAgctcgccgatctccagctgc	9	16	1	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr12:117962864A>T	uc001two.2	-	13	1980	c.1925T>A	c.(1924-1926)cTc>cAc	p.L642H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	671					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTTCCAATGAGCTCGCCGAT	0.622													5	82					0	0	1	0	0	T	117962864	A	T	117962864	3	4	193	1	0	0	0	0	1	0	0	0	8582	304	11	5	868	5	KSR2	12	117962864	Missense_Mutation	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08	7528882	117962864	15889031	7	3374											
CDKL1	8814	broad.mit.edu	37	chr14	50877292	50877292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttggaggagtctgcaccGtagctgctaggtgttgggaa	17	6	1	0			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr14:50877292G>A	uc010anu.2	-	1	111	c.111C>T	c.(109-111)taC>taT	p.Y37Y		NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					agtctgcaccgtagctgctag	0.498													4	117					0	0	1	0	0	A	50877292	G	A	50877292	2	1	193	1	0	0	0	0	0	0	0	1	3153	1160	40	1		1	CDKL1	14	50877292	Silent	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		50877292	56472248	8	3375											
EEF2K	29904	broad.mit.edu	37	chr16	22268620	22268620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccggccatcagctgatagTggtggacatccagggagttg	14	9	1	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr16:22268620T>A	uc002dki.3	+	7	1300	c.815T>A	c.(814-816)gTg>gAg	p.V272E	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	272	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGCTGATAGTGGTGGACATC	0.557													6	157					0	0	1	0	0	A	22268620	T	A	22268620	3	1	193	1	0	0	0	0	1	0	0	0	4930	1696	59	5	841	5	EEF2K	16	22268620	Missense_Mutation	SNP	T	TCGA-EL-A3MW-01A-11D-A20C-08		22268620	68086133	9	3376											
CDYL2	124359	broad.mit.edu	37	chr16	80718510	80718510	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaacatgatcattcaAatccaagccaggctgatggg	8	12	3	2			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr16:80718510A>G	uc002ffs.3	-	1	646	c.541T>C	c.(541-543)Ttg>Ctg	p.L181L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	181						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGATCATTCAAATCCAAGCCA	0.512													3	113					0	0	1	0	0	G	80718510	A	G	80718510	2	3	193	1	0	0	0	0	0	0	0	1	3186	11	1	3		3	CDYL2	16	80718510	Silent	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08	58449890	80718510	9636243	10	3377											
CCDC42	146849	broad.mit.edu	37	chr17	8647917	8647917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttcctcttccatgatgCccagactcatggtggcagtg	11	12	3	2			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr17:8647917C>T	uc002gln.3	-	0	238	c.11G>A	c.(10-12)gGc>gAc	p.G4D	CCDC42_uc002glo.3_Missense_Mutation_p.G4D	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	4										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTCCATGATGCCCAGACTCAT	0.612													34	46					0	0	1	0	0	T	8647917	C	T	8647917	3	4	193	1	0	0	0	0	1	0	0	0	2814	739	26	2	967	2	CCDC42	17	8647917	Missense_Mutation	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08		8647917	72547293	11	3378											
GAA	2548	broad.mit.edu	37	chr17	78079688	78079688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccggcagctggacggccgCgtgctgtgagttctgggctc	17	13	1	1	rs149814041		TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr17:78079688C>T	uc002jxp.3	+	2	1054	c.687C>T	c.(685-687)cgC>cgT	p.R229R	GAA_uc002jxo.3_Silent_p.R229R|GAA_uc002jxq.3_Silent_p.R229R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	229					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TGGACGGCCGCGTGCTGTGAG	0.657													9	76					0	0	1	0	0	T	78079688	C	T	78079688	2	4	193	1	0	0	0	0	0	0	0	1	6147	755	27	1		1	GAA	17	78079688	Silent	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08	69431771	78079688	3115522	12	3379											
DCC	1630	broad.mit.edu	37	chr18	50866169	50866169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggactcctcccttgaacCcaaacatcgtggtgcgaggt	11	12	0	1			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr18:50866169C>A	uc002lfe.2	+	14	2867	c.2251C>A	c.(2251-2253)Cca>Aca	p.P751T	DCC_uc010xdr.1_Missense_Mutation_p.P599T|DCC_uc010dpf.2_Missense_Mutation_p.P406T	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	751	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCCTTGAACCCAAACATCGT	0.473													7	96					0	0	1	0	0	A	50866169	C	A	50866169	3	1	193	1	0	0	0	0	1	0	0	0	4282	623	22	4	2309	4	DCC	18	50866169	Missense_Mutation	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08		50866169	27211079	13	3380											
RTTN	25914	broad.mit.edu	37	chr18	67872549	67872549	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctgatctcggccagctgatGacctgtcaacgaacggcaca	10	14	2	3			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr18:67872549G>C	uc002lkp.2	-	1	102	c.34C>G	c.(34-36)Cat>Gat	p.H12D	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.H12D	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	12							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCCAGCTGATGACCTGTCAAC	0.483													4	172					0	0	1	0	0	C	67872549	G	C	67872549	3	2	193	1	0	0	0	0	1	0	0	0	13737	1290	45	4	6838	4	RTTN	18	67872549	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08	17006380	67872549	10204699	14	3381											
SMARCA1	6594	broad.mit.edu	37	chrX	128657222	128657222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcggtggcttcggtggcCgcggcggccgctccctcctc	16	18	0	0			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chrX:128657222C>T	uc011muk.1	-	0	239	c.126G>A	c.(124-126)gcG>gcA	p.A42A	SMARCA1_uc004eun.4_Silent_p.A42A|SMARCA1_uc004eup.4_Silent_p.A42A|SMARCA1_uc011mul.1_Silent_p.A42A	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	42					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTTCGGTGGCCGCGGCGGCCG	0.667													5	168					0	0	1	0	0	T	128657222	C	T	128657222	2	4	193	1	0	0	0	0	0	0	0	1	14768	639	23	1		1	SMARCA1	23	128657222	Silent	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08		128657222	26613338	15	3382											
VAMP3	9341	broad.mit.edu	37	chr1	7837370	7837370	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggaaatattggtggaagAattgcaaggtaattatcttt	11	2	1	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:7837370A>T	uc001aol.3	+	2	338	c.223A>T	c.(223-225)Aat>Tat	p.N75Y		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	75					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TTGGTGGAAGAATTGCAAGGT	0.448													3	21					0	0	1	0	0	T	7837370	A	T	7837370	3	4	194	1	0	0	0	0	1	0	0	0	17111	246	9	5	233	5	VAMP3	1	7837370	Missense_Mutation	SNP	A	TCGA-EL-A3MX-01A-11D-A21A-08		7837370	241413251	1	3383											
GATAD2B	57459	broad.mit.edu	37	chr1	153784245	153784245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggcacagacaactggGgtgcctgtgcaaagtttgaa	12	10	0	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:153784245G>A	uc001fdb.4	-	9	1854	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	537						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGACAACTGGGGTGCCTGTGC	0.517													3	107					0	0	1	0	0	A	153784245	G	A	153784245	3	1	194	1	0	0	0	0	1	0	0	0	6261	1232	43	2	179	2	GATAD2B	1	153784245	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	145946875	153784245	95466376	2	3384											
ATP1A2	477	broad.mit.edu	37	chr1	160105253	160105253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgtgacgggtgacggGgtgaacgactcccctgcatt	16	11	0	3			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:160105253G>A	uc001fvc.3	+	15	2277	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	ATP1A2_uc001fvb.2_Silent_p.G715G|ATP1A2_uc001fvd.3_Silent_p.G451G	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	715			G -> R (in FHM2; de novo mutation in a sporadic case).		ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGGTGACGGGGTGAACGACT	0.602													5	116					0	0	1	0	0	A	160105253	G	A	160105253	2	1	194	1	0	0	0	0	0	0	0	1	1129	1219	43	2		2	ATP1A2	1	160105253	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	6321008	160105253	89145368	3	3385											
NRXN1	9378	broad.mit.edu	37	chr2	50149344	50149344	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggactcccggatcacttctGctgagcctggatacggctct	11	13	3	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:50149344G>C	uc021vhg.1	-	22	5303	c.4382C>G	c.(4381-4383)gCa>gGa	p.A1461G	NRXN1_uc010fbp.3_Missense_Mutation_p.A356G|NRXN1_uc002rxb.4_Missense_Mutation_p.A1090G|NRXN1_uc021vhh.1_Missense_Mutation_p.A1391G|NRXN1_uc021vhi.1_Missense_Mutation_p.A1457G|NRXN1_uc021vhj.1_Missense_Mutation_p.A1387G|NRXN1_uc002rxa.4_Missense_Mutation_p.A53G|NRXN1_uc010yon.2_Missense_Mutation_p.A56G	NM_001135659	NP_001129131	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.	1391					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATCACTTCTGCTGAGCCTGG	0.532													21	40					0	0	1	0	0	C	50149344	G	C	50149344	3	2	194	1	0	0	0	0	1	0	0	0	10665	1319	46	4	265	4	NRXN1	2	50149344	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		50149344	193050029	4	3386											
ASPRV1	151516	broad.mit.edu	37	chr2	70188128	70188128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcagggtgtccagatcGccatcagtgacctcctccca	11	15	1	2	rs143824935		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:70188128G>A	uc002sfz.4	-	0	1270	c.693C>T	c.(691-693)ggC>ggT	p.G231G		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	231	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGTCCAGATCGCCATCAGTGA	0.567													6	88					0	0	1	0	0	A	70188128	G	A	70188128	2	1	194	1	0	0	0	0	0	0	0	1	1058	1074	38	1		1	ASPRV1	2	70188128	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	20038784	70188128	173011245	5	3387											
AFF3	3899	broad.mit.edu	37	chr2	100209825	100209825	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtcaggtcgattttgacccaGagagacctgatctcatcact	9	11	3	4	rs143928698		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:100209825G>C	uc002taf.3	-	13	2517	c.2373C>G	c.(2371-2373)ctC>ctG	p.L791L	AFF3_uc002tag.3_Silent_p.L766L|AFF3_uc010fiq.1_Silent_p.L766L|AFF3_uc010yvr.1_Silent_p.L919L|AFF3_uc002tah.1_Silent_p.L791L	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	766					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTTGACCCAGAGAGACCTGA	0.582													3	67					0	0	1	0	0	C	100209825	G	C	100209825	2	2	194	1	0	0	0	0	0	0	0	1	358	929	33	4		4	AFF3	2	100209825	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	30021697	100209825	142989548	6	3388											
CXCR1	3577	broad.mit.edu	37	chr2	219029655	219029655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttggaggcggcccagaTgggcaaggtcagggcaaaga	16	10	1	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:219029655T>C	uc002vhc.3	-	1	399	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	CXCR1_uc021vwq.1_Missense_Mutation_p.I94V	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	94					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GCGGCCCAGATGGGCAAGGTC	0.557													41	87					0	0	1	0	0	C	219029655	T	C	219029655	3	2	194	1	0	0	0	0	1	0	0	0	4090	1464	51	3	776	3	CXCR1	2	219029655	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	118819830	219029655	24169718	7	3389											
IMPDH2	3615	broad.mit.edu	37	chr3	49062646	49062646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggaacaccaaagcgccGtgcatactctgacaccttgt	9	14	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:49062646G>A	uc003cvt.3	-	9	1155	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	355					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	p.R355R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCAAAGCGCCGTGCATACTCT	0.557													30	264					0	0	1	0	0	A	49062646	G	A	49062646	3	1	194	1	0	0	0	0	1	0	0	0	7727	1144	40	1	501	1	IMPDH2	3	49062646	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		49062646	148959784	8	3390											
PHLDB2	90102	broad.mit.edu	37	chr3	111671550	111671550	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctactatggggagaagcatCaccccaaaggtaggacctgg	13	10	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:111671550C>T	uc010hqa.3	+	10	3174	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	PHLDB2_uc003dyc.3_Silent_p.I905I|PHLDB2_uc003dyd.3_Silent_p.I878I|PHLDB2_uc003dyg.3_Silent_p.I921I|PHLDB2_uc003dyh.3_Silent_p.I878I|PHLDB2_uc003dyi.3_Intron	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	921						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.M921L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAGAAGCATCACCCCAAAGG	0.453													16	59					0	0	1	0	0	T	111671550	C	T	111671550	2	4	194	1	0	0	0	0	0	0	0	1	11852	816	29	2		2	PHLDB2	3	111671550	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	62608904	111671550	86350880	9	3391											
ETV5	2119	broad.mit.edu	37	chr3	185766571	185766571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccttcaggaacggacGctggttatccgggaaagcca	12	12	2	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:185766571G>A	uc003fpy.3	-	12	1581	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	ETV5_uc003fpz.3_Missense_Mutation_p.R464C	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	464					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGGAACGGACGCTGGTTATCC	0.577			T	"TMPRSS2, SCL45A3"	Prostate								28	31					0	0	1	0	0	A	185766571	G	A	185766571	3	1	194	1	0	0	0	0	1	0	0	0	5282	1087	38	1	146	1	ETV5	3	185766571	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	74095021	185766571	12255859	10	3392											
LYAR	55646	broad.mit.edu	37	chr4	4276212	4276212	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagagccattggcctcaggGacttcctccccaccagcctc	9	18	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr4:4276212G>A	uc011bvy.2	-	6	857	c.714C>T	c.(712-714)gtC>gtT	p.V238V	LYAR_uc011bvx.2_Silent_p.V121V|LYAR_uc003ght.3_Silent_p.V238V	NM_001145725	NP_060286	Q9NX58	LYAR_HUMAN	Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.	238	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCCTCAGGGACTTCCTCCC	0.547													114	133					0	0	1	0	0	A	4276212	G	A	4276212	2	1	194	1	0	0	0	0	0	0	0	1	9103	1161	41	2		2	LYAR	4	4276212	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		4276212	186878064	11	3393											
TRIO	7204	broad.mit.edu	37	chr5	14293176	14293176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaaacagctacacagagaTtgggaccagccaccctcatg	8	13	2	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr5:14293176T>C	uc003jff.3	+	5	1115	c.1109T>C	c.(1108-1110)aTt>aCt	p.I370T	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.I321T|TRIO_uc003jfh.1_Missense_Mutation_p.I19T	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	370					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TACACAGAGATTGGGACCAGC	0.493													26	64					0	0	1	0	0	C	14293176	T	C	14293176	3	2	194	1	0	0	0	0	1	0	0	0	16549	1493	52	3	1131	3	TRIO	5	14293176	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08		14293176	166622084	12	3394											
COL11A2	1302	broad.mit.edu	37	chr6	33141287	33141287	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaacttaccgggggtcCtttcggtccaggaaacccgt	13	12	1	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33141287C>G	uc003ocx.1	-	35	2902	c.2674G>C	c.(2674-2676)Gga>Cga	p.G892R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G806R|COL11A2_uc003ocz.1_Missense_Mutation_p.G785R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	892	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCGGGGGTCCTTTCGGTCCA	0.612													11	103					0	0	1	0	0	G	33141287	C	G	33141287	3	3	194	1	0	0	0	0	1	0	0	0	3668	690	24	4	2660	4	COL11A2	6	33141287	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		33141287	137973780	13	3395											
LEMD2	221496	broad.mit.edu	37	chr6	33744785	33744785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatgcctacatatggaTagcgctccatgtcctgctcc	10	13	0	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33744785T>C	uc011drm.2	-	7	1320	c.1307A>G	c.(1306-1308)tAt>tGt	p.Y436C	LEMD2_uc010jvg.3_Missense_Mutation_p.Y145C|LEMD2_uc011drl.2_Missense_Mutation_p.Y134C	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	436						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TACATATGGATAGCGCTCCAT	0.622													12	69					0	0	1	0	0	C	33744785	T	C	33744785	3	2	194	1	0	0	0	0	1	0	0	0	8720	1406	49	3	212	3	LEMD2	6	33744785	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	603498	33744785	137370282	14	3396											
TBC1D22B	55633	broad.mit.edu	37	chr6	37225722	37225722	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaacagcaagcagttttGgaagaggagcgctaagctgc	14	7	0	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:37225722G>A	uc003onn.3	+	0	175	c.29G>A	c.(28-30)tGg>tAg	p.W10*	TMEM217_uc003onl.3_5'Flank|TMEM217_uc010jwr.3_5'Flank|TMEM217_uc010jws.3_5'Flank|TMEM217_uc003onm.4_5'UTR|TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	10						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGCAGTTTTGGAAGAGGAGC	0.622													9	39					0	0	1	0	0	A	37225722	G	A	37225722	4	1	194	1	0	0	0	0	0	1	0	0	15609	1357	47	2	31	2	TBC1D22B	6	37225722	Nonsense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	3480937	37225722	133889345	15	3397											
MDN1	23195	broad.mit.edu	37	chr6	90368423	90368423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagactgctgctgctcctcaGagtgttcttcaggatgctga	11	11	3	3			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:90368423G>A	uc003pnn.1	-	88	15043	c.14927C>T	c.(14926-14928)tCt>tTt	p.S4976F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4976					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGCTCCTCAGAGTGTTCTTC	0.532													12	147					0	0	1	0	0	A	90368423	G	A	90368423	3	1	194	1	0	0	0	0	1	0	0	0	9415	942	33	2	1919	2	MDN1	6	90368423	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	53142701	90368423	80746644	16	3398											
HIBADH	11112	broad.mit.edu	37	chr7	27570874	27570874	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccgagggaacgccatccatCactccaggtacaggattata	10	12	1	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:27570874C>A	uc003szf.3	-	6	1002	c.789G>T	c.(787-789)gtG>gtT	p.V263V	HIBADH_uc003szg.3_Silent_p.V214V	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	263					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CGCCATCCATCACTCCAGGTA	0.443													6	71					0	0	1	0	0	A	27570874	C	A	27570874	2	1	194	1	0	0	0	0	0	0	0	1	7099	813	29	4		4	HIBADH	7	27570874	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		27570874	131567789	17	3399											
NSUN5	55695	broad.mit.edu	37	chr7	72718830	72718830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgggagcctggcgggggGtccagcagcatggctgggag	20	9	0	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:72718830G>A	uc011kev.2	-	5	746	c.669C>T	c.(667-669)gaC>gaT	p.D223D	FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.3_Silent_p.D223D|NSUN5_uc003txw.3_Silent_p.D223D|NSUN5_uc003txx.3_Silent_p.D185D	NM_001168347	NP_001161819	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 3, mRNA.	223							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTGGCGGGGGGTCCAGCAGCA	0.617													3	52					0	0	1	0	0	A	72718830	G	A	72718830	2	1	194	1	0	0	0	0	0	0	0	1	10681	1252	44	2		2	NSUN5	7	72718830	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	45147956	72718830	86419833	18	3400											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	44					0	0	1	0	0	T	140453136	A	T	140453136	3	4	194	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MX-01A-11D-A21A-08	67734306	140453136	18685527	19	3401											
FER1L6	654463	broad.mit.edu	37	chr8	124992869	124992869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaatcctctcaggacggGcacaggaatctaaattttcc	9	10	2	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr8:124992869G>T	uc003yqw.3	+	10	1434	c.1228G>T	c.(1228-1230)Gca>Tca	p.A410S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	410						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCAGGACGGGCACAGGAATC	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	107					0	0	1	0	0	T	124992869	G	T	124992869	3	4	194	1	0	0	0	0	1	0	0	0	5815	1203	42	4	1266	4	FER1L6	8	124992869	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		124992869	21371153	20	3402											
RECK	8434	broad.mit.edu	37	chr9	36118962	36118962	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgcaaacccatcatcccacCgggtaggctggcagtatcgg	11	13	1	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr9:36118962C>G	uc003zyv.3	+	17	2548	c.2462C>G	c.(2461-2463)cCg>cGg	p.P821R	RECK_uc003zyw.3_Missense_Mutation_p.P693R|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	821						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATCATCCCACCGGGTAGGCTG	0.557													7	148					0	0	1	0	0	G	36118962	C	G	36118962	3	3	194	1	0	0	0	0	1	0	0	0	13200	652	23	4	2532	4	RECK	9	36118962	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		36118962	105094469	21	3403											
DHX32	55760	broad.mit.edu	37	chr10	127548295	127548295	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggtacacaacctccacAgggtgtttatttttcacttc	6	11	1	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr10:127548295A>G	uc001ljf.1	-	2	1217	c.726T>C	c.(724-726)ccT>ccC	p.P242P	DHX32_uc001ljg.1_Silent_p.P242P|DHX32_uc009yam.1_Silent_p.P78P	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	242						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAACCTCCACAGGGTGTTTAT	0.403													18	91					0	0	1	0	0	G	127548295	A	G	127548295	2	3	194	1	0	0	0	0	0	0	0	1	4505	175	7	3		3	DHX32	10	127548295	Silent	SNP	A	TCGA-EL-A3MX-01A-11D-A21A-08		127548295	7986452	22	3404											
E2F8	79733	broad.mit.edu	37	chr11	19246838	19246838	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactggtgagtcatagTtggtggcccttccttgctga	14	9	1	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:19246838T>A	uc001mpm.3	-	11	2873	c.2351A>T	c.(2350-2352)aAc>aTc	p.N784I	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.N784I	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	784					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGTCATAGTTGGTGGCCCT	0.498													17	129					0	0	1	0	0	A	19246838	T	A	19246838	3	1	194	1	0	0	0	0	1	0	0	0	4873	1725	60	5	260	5	E2F8	11	19246838	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08		19246838	115759678	23	3405											
AMICA1	120425	broad.mit.edu	37	chr11	118068757	118068757	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcagggtttttcttttatctCtggattagtcttcttcgtgt	9	7	4	0	rs139352792		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:118068757C>G	uc001psk.2	-	7	1135	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	AMICA1_uc001psg.2_Missense_Mutation_p.E131Q|AMICA1_uc001psh.2_Missense_Mutation_p.E282Q|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.E311Q|AMICA1_uc010rxw.1_Missense_Mutation_p.E282Q|AMICA1_uc010rxx.1_Missense_Mutation_p.E321Q|AMICA1_uc001psl.1_Missense_Mutation_p.E277Q	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	321					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTTTATCTCTGGATTAGTC	0.438											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	105					0	0	1	0	0	G	118068757	C	G	118068757	3	3	194	1	0	0	0	0	1	0	0	0	574	922	32	4	235	4	AMICA1	11	118068757	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	98821919	118068757	16937759	24	3406											
STAC3	246329	broad.mit.edu	37	chr12	57640655	57640655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccccagtgcgcagggtttCaaacacaggatcattgcgat	10	12	2	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr12:57640655C>T	uc001snp.2	-	5	737	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Missense_Mutation_p.E140K|STAC3_uc010srm.1_5'UTR	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	179					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGCAGGGTTTCAAACACAGGA	0.507													12	230					0	0	1	0	0	T	57640655	C	T	57640655	3	4	194	1	0	0	0	0	1	0	0	0	15240	835	29	2	587	2	STAC3	12	57640655	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		57640655	76211240	25	3407											
TEP1	7011	broad.mit.edu	37	chr14	20859812	20859812	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcattagcatctgtcagataGaccaagacagtgcggcctgg	12	10	2	3			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:20859812G>C	uc001vxe.3	-	12	2083	c.2043C>G	c.(2041-2043)gtC>gtG	p.V681V	TEP1_uc010ahk.3_Silent_p.V31V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.V573V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	681					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGTCAGATAGACCAAGACAG	0.532													22	184					0	0	1	0	0	C	20859812	G	C	20859812	2	2	194	1	0	0	0	0	0	0	0	1	15756	929	33	4		4	TEP1	14	20859812	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		20859812	86489728	26	3408											
FANCM	57697	broad.mit.edu	37	chr14	45656993	45656993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttacacagattctgaaaTgagagctatttacatgaaat	6	6	2	4			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:45656993T>C	uc001wwd.4	+	18	4781	c.4682T>C	c.(4681-4683)aTg>aCg	p.M1561T	FANCM_uc010anf.3_Missense_Mutation_p.M1535T|FANCM_uc001wwe.4_Missense_Mutation_p.M1097T|FANCM_uc010ang.3_Missense_Mutation_p.M775T	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1561					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTCTGAAATGAGAGCTATT	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	8					0	0	1	0	0	C	45656993	T	C	45656993	3	2	194	1	0	0	0	0	1	0	0	0	5671	1464	51	3	4756	3	FANCM	14	45656993	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	24797181	45656993	61692547	27	3409											
HSP90AA1	3320	broad.mit.edu	37	chr14	102549628	102549628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgagttagctacctggtCcttggtctcacctgaggtat	12	10	1	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:102549628C>T	uc001ykv.4	-	9	2209	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	HSP90AA1_uc001yku.4_Missense_Mutation_p.D500N|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D321N|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D489N	NM_001017963	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 1, mRNA.	500					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GCTACCTGGTCCTTGGTCTCA	0.418													6	77					0	0	1	0	0	T	102549628	C	T	102549628	3	4	194	1	0	0	0	0	1	0	0	0	7401	855	30	2	712	2	HSP90AA1	14	102549628	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	56892635	102549628	4799912	28	3410											
RPUSD1	113000	broad.mit.edu	37	chr16	837116	837116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggtgtgggcccggccctCcgtgctgttcctgccaatgg	14	14	0	0	rs2272898	byFrequency	TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:837116C>T	uc002cka.3	-	2	604	c.370G>A	c.(370-372)Gag>Aag	p.E124K	RPUSD1_uc002ckb.3_Missense_Mutation_p.E124K|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	124			E -> Q (in dbSNP:rs2272898).		pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCCCGGCCCTCCGTGCTGTTC	0.692													4	55					0	0	1	0	0	T	837116	C	T	837116	3	4	194	1	0	0	0	0	1	0	0	0	13666	864	30	2	580	2	RPUSD1	16	837116	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		837116	89517637	29	3411											
DPH1	1801	broad.mit.edu	37	chr17	1943643	1943643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattctgggcactttgggccGccagggcagtcctaagatcc	12	12	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:1943643G>A	uc010vqs.2	+	6	932	c.926G>A	c.(925-927)cGc>cAc	p.R309H	DPH1_uc002fts.3_Missense_Mutation_p.R299H|DPH1_uc002ftt.3_Missense_Mutation_p.R283H|DPH1_uc010cjx.3_Missense_Mutation_p.R159H|DPH1_uc002ftv.3_Missense_Mutation_p.R55H|DPH1_uc002ftw.3_Missense_Mutation_p.R27H|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	299					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACTTTGGGCCGCCAGGGCAGT	0.602													14	61					0	0	1	0	0	A	1943643	G	A	1943643	3	1	194	1	0	0	0	0	1	0	0	0	4719	1087	38	1	926	1	DPH1	17	1943643	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		1943643	79251567	30	3412											
ATAD5	79915	broad.mit.edu	37	chr17	29196274	29196274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatttttcagatttctcgGgtggcatagactttaaaggc	9	6	2	2			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:29196274G>A	uc002hfs.1	+	12	3665	c.3322G>A	c.(3322-3324)Ggt>Agt	p.G1108S	ATAD5_uc002hft.1_Missense_Mutation_p.G1005S	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1108					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGATTTCTCGGGTGGCATAGA	0.393													8	49					0	0	1	0	0	A	29196274	G	A	29196274	3	1	194	1	0	0	0	0	1	0	0	0	1076	1232	43	2	3372	2	ATAD5	17	29196274	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	27252631	29196274	51998936	31	3413											
ZNF554	115196	broad.mit.edu	37	chr19	2827692	2827692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcctgctcagaagaaCctgtacagagaggtgatgct	13	9	1	4			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:2827692C>T	uc002lwm.2	+	2	402	c.204C>T	c.(202-204)aaC>aaT	p.N68N	ZNF554_uc002lwl.2_Silent_p.N17N	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGAAGAACCTGTACAGAG	0.483													14	50					0	0	1	0	0	T	2827692	C	T	2827692	2	4	194	1	0	0	0	0	0	0	0	1	17982	506	18	2		2	ZNF554	19	2827692	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		2827692	56301291	32	3414											
ZNF709	163051	broad.mit.edu	37	chr19	12577553	12577553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctatagaggccaagtTaacaaaggtttcttgcatca	7	9	2	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:12577553T>C	uc002mtv.4	-	1	276	c.115A>G	c.(115-117)Aac>Gac	p.N39D	ZNF709_uc002mtw.4_Missense_Mutation_p.N7D|ZNF709_uc002mtx.4_Missense_Mutation_p.N39D	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GAGGCCAAGTTAACAAAGGTT	0.428													5	45					0	0	1	0	0	C	12577553	T	C	12577553	3	2	194	1	0	0	0	0	1	0	0	0	18110	1754	61	3	1822	3	ZNF709	19	12577553	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	9749861	12577553	46551430	33	3415											
C19orf57	79173	broad.mit.edu	37	chr19	14003691	14003691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaactggggaacaaaccTcccgaatgagttctgtaaac	9	10	1	1			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:14003691T>C	uc002mxl.1	-	4	360	c.301A>G	c.(301-303)Agg>Ggg	p.R101G	C19orf57_uc002mxk.1_5'UTR	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	101					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGAACAAACCTCCCGAATGAG	0.458													23	29					0	0	1	0	0	C	14003691	T	C	14003691	3	2	194	1	0	0	0	0	1	0	0	0	1939	1550	54	3	1628	3	C19orf57	19	14003691	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	1426138	14003691	45125292	34	3416											
PRIC285	85441	broad.mit.edu	37	chr20	62198499	62198499	+	Frame_Shift_Del	DEL	C	C	-													gcggtagttctcgtggaagaCcaggcggctctgccgcgcca							TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr20:62198499delC	uc002yfm.2	-	6	3104	c.2212delG	c.(2212-2214)gtcfs	p.V738fs	PRIC285_uc002yfl.1_Frame_Shift_Del_p.V169fs	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	738					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCGTGGAAGACCAGGCGGCTC	0.667													38	68	---	---	---	---						-	62198499	C	-	62198499	7	5	194	1	0	1	0	1	0	0	0	0	12485	507	18	0	5793	0	PRIC285	20	62198499	Frame_Shift_Del	DEL	C	TCGA-EL-A3MX-01A-11D-A21A-08		62198499	827021	35	3417											
TCF20	6942	broad.mit.edu	37	chr22	42610592	42610592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggaggaggaggaggaGgaagcagaagactgatagtg	20	2	0	3			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr22:42610592G>A	uc003bcj.1	-	0	854	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_uc003bck.1_Silent_p.S240S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	240	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512													3	75					0	0	1	0	0	A	42610592	G	A	42610592	2	1	194	1	0	0	0	0	0	0	0	1	15687	987	35	2		2	TCF20	22	42610592	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		42610592	8693974	36	3418											
GPR101	83550	broad.mit.edu	37	chrX	136112949	136112949	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccctggcctctacactactCtcactggtccccgtgcttcc	6	20	2	0			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chrX:136112949C>G	uc011mwh.2	-	0	885	c.885G>C	c.(883-885)gaG>gaC	p.E295D		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	295						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTACACTACTCTCACTGGTCC	0.617													30	262					0	0	1	0	0	G	136112949	C	G	136112949	3	3	194	1	0	0	0	0	1	0	0	0	6622	912	32	4	644	4	GPR101	23	136112949	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		136112949	19157611	37	3419											
PGBD2	267002	broad.mit.edu	37	chr1	249211207	249211207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagccaagagctgagtcccGtgggcctttttgagttgttt	12	8	0	3			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr1:249211207G>T	uc001ifh.3	+	2	571	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Missense_Mutation_p.V139L|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	142										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCTGAGTCCCGTGGGCCTTTT	0.398													13	35					0	0	1	0	0	T	249211207	G	T	249211207	3	4	195	1	0	0	0	0	1	0	0	0	11781	1145	40	4	430	4	PGBD2	1	249211207	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		249211207	39414	1	3420											
TTN	7273	broad.mit.edu	37	chr2	179402314	179402314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggaacccacagctccaTaatatttctctttcagtggg	9	10	2	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:179402314T>C	uc021vsy.1	-	303	92141	c.91916A>G	c.(91915-91917)tAt>tGt	p.Y30639C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y24334C|TTN_uc021vta.1_Missense_Mutation_p.Y24267C|TTN_uc021vtb.1_Missense_Mutation_p.Y24142C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31566	Fibronectin type-III 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGCTCCATAATATTTCTC	0.458													3	37					0	0	1	0	0	C	179402314	T	C	179402314	3	2	195	1	0	0	0	0	1	0	0	0	16732	1406	49	3	8391	3	TTN	2	179402314	Missense_Mutation	SNP	T	TCGA-EL-A3MY-01A-11D-A21A-08		179402314	63797059	2	3421											
COL4A4	1286	broad.mit.edu	37	chr2	227875182	227875182	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggtatccagggccaaaccCtttgggcccaggatccccaa	11	14	0	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:227875182C>G	uc021vxr.1	-	44	4470	c.4369G>C	c.(4369-4371)Ggg>Cgg	p.G1457R	COL4A4_uc021vxs.1_Missense_Mutation_p.G1454R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1457	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCCAAACCCTTTGGGCCCA	0.572													6	21					0	0	1	0	0	G	227875182	C	G	227875182	3	3	195	1	0	0	0	0	1	0	0	0	3693	681	24	4	715	4	COL4A4	2	227875182	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08	48472868	227875182	15324191	3	3422											
TNIP2	79155	broad.mit.edu	37	chr4	2757866	2757866	+	Frame_Shift_Del	DEL	G	G	-													cccctccagcgcggccaggcGggcgcggaggcgagcgatga							TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr4:2757866delG	uc003gfg.2	-	0	238	c.151delC	c.(151-153)cgcfs	p.R51fs	TNIP2_uc003gff.2_5'Flank	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	51						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGCCAGGCGGGCGCGGAGG	0.761													2	4	---	---	---	---						-	2757866	G	-	2757866	7	5	195	1	0	1	0	1	0	0	0	0	16312	1116	39	0	1162	0	TNIP2	4	2757866	Frame_Shift_Del	DEL	G	TCGA-EL-A3MY-01A-11D-A21A-08		2757866	188396410	4	3423											
PITX2	5308	broad.mit.edu	37	chr4	111539506	111539506	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctactcaggttgttcaagttAttcaggctgttgagactgga	11	7	3	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr4:111539506A>T	uc003iac.3	-	2	1388	c.750T>A	c.(748-750)aaT>aaA	p.N250K	PITX2_uc003iaf.3_Missense_Mutation_p.N243K|PITX2_uc003iad.3_Missense_Mutation_p.N243K|PITX2_uc021xqr.1_Missense_Mutation_p.N243K|PITX2_uc003iae.3_Missense_Mutation_p.N197K|PITX2_uc021xqs.1_Missense_Mutation_p.N197K	NM_000325	NP_000316	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 3, mRNA.	243					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGTTCAAGTTATTCAGGCTGT	0.582													28	68					0	0	1	0	0	T	111539506	A	T	111539506	3	4	195	1	0	0	0	0	1	0	0	0	11955	446	16	5	228	5	PITX2	4	111539506	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08	108781640	111539506	79614770	5	3424											
IRX2	153572	broad.mit.edu	37	chr5	2748624	2748624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctggccctgcagcgccgCgttcaagttcccgtagtttg	11	15	1	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr5:2748624C>A	uc003jda.3	-	2	1440	c.1198G>T	c.(1198-1200)Gcg>Tcg	p.A400S	IRX2_uc003jdb.3_Missense_Mutation_p.A400S	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	400						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCGCCGCGTTCAAGTTC	0.706													40	78					0	0	1	0	0	A	2748624	C	A	2748624	3	1	195	1	0	0	0	0	1	0	0	0	7844	768	27	4	225	4	IRX2	5	2748624	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08		2748624	178166636	6	3425											
E2F3	1871	broad.mit.edu	37	chr6	20486987	20486987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaccaaactgttatagttGtgaaagcccctccagaaaca	7	10	0	3			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr6:20486987G>T	uc003nda.2	+	4	1279	c.952G>T	c.(952-954)Gtg>Ttg	p.V318L	E2F3_uc021ymj.1_Missense_Mutation_p.V187L	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	318	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TGTTATAGTTGTGAAAGCCCC	0.383													11	39					0	0	1	0	0	T	20486987	G	T	20486987	3	4	195	1	0	0	0	0	1	0	0	0	4868	1377	48	4	970	4	E2F3	6	20486987	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		20486987	150628080	7	3426											
FAM120B	84498	broad.mit.edu	37	chr6	170628184	170628184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtaaagcaacaagtaaCcatggtttcagacactgaaa	8	7	1	3			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr6:170628184C>T	uc003qxp.3	+	1	1814	c.1706C>T	c.(1705-1707)aCc>aTc	p.T569I	FAM120B_uc003qxo.1_Missense_Mutation_p.T569I|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	569					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.V568L(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAACAAGTAACCATGGTTTCA	0.388													10	27					0	0	1	0	0	T	170628184	C	T	170628184	3	4	195	1	0	0	0	0	1	0	0	0	5417	507	18	2	1708	2	FAM120B	6	170628184	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08	150141197	170628184	486883	8	3427											
AGR2	10551	broad.mit.edu	37	chr7	16839390	16839390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagattgaggaggacaaacTgctctgccaatttctggatt	10	9	2	2			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:16839390T>C	uc003str.3	-	4	495	c.308A>G	c.(307-309)cAg>cGg	p.Q103R		NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	103					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGGACAAACTGCTCTGCCAA	0.308													6	18					0	0	1	0	0	C	16839390	T	C	16839390	3	2	195	1	0	0	0	0	1	0	0	0	395	1580	55	3	235	3	AGR2	7	16839390	Missense_Mutation	SNP	T	TCGA-EL-A3MY-01A-11D-A21A-08		16839390	142299273	9	3428											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				12	38					0	0	1	0	0	T	140453136	A	T	140453136	3	4	195	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08	123613746	140453136	18685527	10	3429											
TACC2	10579	broad.mit.edu	37	chr10	123842613	123842613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgaccagtcacctggaAtgtcgccagtacccctcaga	9	15	2	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr10:123842613A>G	uc001lfv.3	+	3	958	c.598A>G	c.(598-600)Atg>Gtg	p.M200V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.M200V|TACC2_uc010qtv.2_Missense_Mutation_p.M200V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	200						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCACCTGGAATGTCGCCAGT	0.582													17	33					0	0	1	0	0	G	123842613	A	G	123842613	3	3	195	1	0	0	0	0	1	0	0	0	15499	101	4	3	608	3	TACC2	10	123842613	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08		123842613	11692134	11	3430											
CD3D	915	broad.mit.edu	37	chr11	118209888	118209888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctcaggttcacttgttccGagcccagtttcctccaaggt	9	13	2	0			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr11:118209888G>A	uc001pss.1	-	4	642	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CD3D_uc001pst.1_Missense_Mutation_p.R125W|CD3D_uc021qrf.1_Missense_Mutation_p.R96W	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	169					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CACTTGTTCCGAGCCCAGTTT	0.502													31	112					0	0	1	0	0	A	118209888	G	A	118209888	3	1	195	1	0	0	0	0	1	0	0	0	3010	1057	37	1	14	1	CD3D	11	118209888	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		118209888	16796628	12	3431											
C15orf63	25764	broad.mit.edu	37	chr15	44093364	44093364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagacagaaggtcccgggAgcagaaagccaaacaggagc	15	9	0	3			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr15:44093364A>G	uc001ztb.3	+	3	842	c.359A>G	c.(358-360)gAg>gGg	p.E120G	ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Missense_Mutation_p.E74G|C15orf63_uc021skf.1_Intron|C15orf63_uc001ztg.1_Intron	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN	Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.	74										endometrium(1)|large_intestine(1)|ovary(1)	3						AGGTCCCGGGAGCAGAAAGCC	0.493													16	83					0	0	1	0	0	G	44093364	A	G	44093364	3	3	195	1	0	0	0	0	1	0	0	0	1809	304	11	3	227	3	C15orf63	15	44093364	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08		44093364	58438028	13	3432											
CDH11	1009	broad.mit.edu	37	chr16	64984728	64984728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgtgctcaggccggcGttcagaatgtaggcctctgc	14	13	3	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr16:64984728G>A	uc002eoi.3	-	11	2270	c.1836C>T	c.(1834-1836)aaC>aaT	p.N612N	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.N612N|CDH11_uc010vin.2_Silent_p.N486N	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	612	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCAGGCCGGCGTTCAGAATGT	0.632			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			27	61					0	0	1	0	0	A	64984728	G	A	64984728	2	1	195	1	0	0	0	0	0	0	0	1	3097	1136	40	1		1	CDH11	16	64984728	Silent	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		64984728	25370025	14	3433											
CACNA1A	773	broad.mit.edu	37	chr19	13565980	13565980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgctccagtgcgaggaCgatgcaattcgctatgatgg	13	9	0	1			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr19:13565980C>T	uc010xne.2	-	1	576	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_uc010xnd.2_Missense_Mutation_p.V114I|CACNA1A_uc021ups.1_Missense_Mutation_p.V114I|CACNA1A_uc002mwy.3_Missense_Mutation_p.V114I|CACNA1A_uc010dze.2_Missense_Mutation_p.V114I|CACNA1A_uc021upt.1_Missense_Mutation_p.V114I	NM_023035	NP_075461	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 2, mRNA.	114					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGTGCGAGGACGATGCAATTC	0.453													64	185					0	0	1	0	0	T	13565980	C	T	13565980	3	4	195	1	0	0	0	0	1	0	0	0	2538	536	19	1	7478	1	CACNA1A	19	13565980	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08		13565980	45563003	15	3434											
USP9X	8239	broad.mit.edu	37	chrX	41043681	41043682	+	Frame_Shift_Ins	INS	-	-	A													ttgttaatgcctgctggtgcINSacctctggctgatgattcct							TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chrX:41043681_41043682insA	uc004dfb.3	+	22	3944_3945	c.3311_3312insA	c.(3310-3312)gcafs	p.A1104fs	USP9X_uc004dfc.3_Frame_Shift_Ins_p.A1104fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1104					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCTGCTGGTGCACCTCTGGCTG	0.401													20	41	---	---	---	---						A	41043682	-	A	41043681	7	5	195	1	0	1	1	0	0	0	0	0	17087	710	25	0	3397	0	USP9X	23	41043681	Frame_Shift_Ins	INS	-	TCGA-EL-A3MY-01A-11D-A21A-08		41043681	114226879	16	3435											
KTI12	112970	broad.mit.edu	37	chr1	52499143	52499143	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcagagcggggtgcgcgcCgcccgtgccaggcagtagag	19	12	0	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:52499143C>A	uc001ctj.1	-	0	330	c.291G>T	c.(289-291)gcG>gcT	p.A97A	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	97							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GGGTGCGCGCCGCCCGTGCCA	0.672													4	157					0	0	1	0	0	A	52499143	C	A	52499143	2	1	196	1	0	0	0	0	0	0	0	1	8584	639	23	4		4	KTI12	1	52499143	Silent	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		52499143	196751478	1	3436											
PALMD	54873	broad.mit.edu	37	chr1	100154340	100154340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttaacagctttatatgCcatggaaattaaagttgaaa	6	5	1	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:100154340C>T	uc001dsg.3	+	6	967	c.524C>T	c.(523-525)gCc>gTc	p.A175V		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	175					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GCTTTATATGCCATGGAAATT	0.299													18	49					0	0	1	0	0	T	100154340	C	T	100154340	3	4	196	1	0	0	0	0	1	0	0	0	11411	739	26	2	550	2	PALMD	1	100154340	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	47655197	100154340	149096281	2	3437											
AKNAD1	254268	broad.mit.edu	37	chr1	109394761	109394761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctgttttcaccatcccTtttcgggttgagttggtcag	10	9	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:109394761T>C	uc001dwa.3	-	1	795	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	176										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCACCATCCCTTTTCGGGTTG	0.423													3	109					0	0	1	0	0	C	109394761	T	C	109394761	3	2	196	1	0	0	0	0	1	0	0	0	464	1608	56	3	2044	3	AKNAD1	1	109394761	Missense_Mutation	SNP	T	TCGA-EL-A3MZ-01A-11D-A21A-08	9240421	109394761	139855860	3	3438											
PIAS3	10401	broad.mit.edu	37	chr1	145578441	145578441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaccattgcccttctAtgaagtctatggggagctca	9	10	3	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:145578441A>G	uc001eoc.1	+	1	495	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	PIAS3_uc010oyy.1_Missense_Mutation_p.Y126C|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	135	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.R134W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGCCCTTCTATGAAGTCTAT	0.582													19	219					0	0	1	0	0	G	145578441	A	G	145578441	3	3	196	1	0	0	0	0	1	0	0	0	11877	449	16	3	410	3	PIAS3	1	145578441	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	36183680	145578441	103672180	4	3439											
SEMA6C	10500	broad.mit.edu	37	chr1	151105171	151105171	+	Frame_Shift_Del	DEL	G	G	-													ggactcgagtgagcagggcaGggggggcccggtggccggag							TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:151105171delG	uc001ewv.3	-	19	3014	c.2678delC	c.(2677-2679)cctfs	p.P893fs	SEMA6C_uc001ewu.3_Frame_Shift_Del_p.P861fs|SEMA6C_uc001eww.3_Frame_Shift_Del_p.P853fs	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	861						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGCAGGGCAGGGGGGGCCCG	0.781													2	4	---	---	---	---						-	151105171	G	-	151105171	7	5	196	1	0	1	0	1	0	0	0	0	14041	1000	35	0	214	0	SEMA6C	1	151105171	Frame_Shift_Del	DEL	G	TCGA-EL-A3MZ-01A-11D-A21A-08	5526730	151105171	98145450	5	3440											
ARHGEF2	9181	broad.mit.edu	37	chr1	155932417	155932417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcgtttgtctcgggcGtacagctccttatagagctt	12	9	1	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:155932417G>A	uc001fmu.2	-	12	1455	c.1200C>T	c.(1198-1200)taC>taT	p.Y400Y	ARHGEF2_uc001fmr.2_Silent_p.Y328Y|ARHGEF2_uc001fms.2_Silent_p.Y355Y|ARHGEF2_uc001fmt.2_Silent_p.Y356Y|ARHGEF2_uc010pgt.1_Silent_p.Y329Y|ARHGEF2_uc010pgu.1_Silent_p.Y401Y	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	356	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557													4	128					0	0	1	0	0	A	155932417	G	A	155932417	2	1	196	1	0	0	0	0	0	0	0	1	903	1140	40	1		1	ARHGEF2	1	155932417	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	4827246	155932417	93318204	6	3441											
ATP1A4	480	broad.mit.edu	37	chr1	160124992	160124992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccattctctgctttgtggCctacagcatccagatatatt	8	11	1	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:160124992C>T	uc001fve.4	+	2	844	c.365C>T	c.(364-366)gCc>gTc	p.A122V	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	122					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTTTGTGGCCTACAGCATC	0.517													3	53					0	0	1	0	0	T	160124992	C	T	160124992	3	4	196	1	0	0	0	0	1	0	0	0	1131	739	26	2	375	2	ATP1A4	1	160124992	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	4192575	160124992	89125629	7	3442											
PPP1R15B	84919	broad.mit.edu	37	chr1	204380470	204380470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgatcgccgagggaaaaAgggtggccagaaccggaagc	16	9	0	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:204380470A>G	uc001hav.4	-	0	475	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	24					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CGAGGGAAAAAGGGTGGCCAG	0.627													3	134					0	0	1	0	0	G	204380470	A	G	204380470	3	3	196	1	0	0	0	0	1	0	0	0	12364	72	3	3	2079	3	PPP1R15B	1	204380470	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	44255478	204380470	44870151	8	3443											
OBSCN	84033	broad.mit.edu	37	chr1	228461984	228461984	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgtgcagaggtggtgtGgcgctgcggcaacacgcagc	18	10	0	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:228461984G>A	uc009xez.1	+	18	5566	c.5522G>A	c.(5521-5523)tGg>tAg	p.W1841*	OBSCN_uc001hsn.3_Nonsense_Mutation_p.W1841*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1841	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGGTGTGGCGCTGCGGC	0.692													4	169					0	0	1	0	0	A	228461984	G	A	228461984	4	1	196	1	0	0	0	0	0	1	0	0	10812	1357	47	2	5592	2	OBSCN	1	228461984	Nonsense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	24081514	228461984	20788637	9	3444											
AFF3	3899	broad.mit.edu	37	chr2	100623626	100623626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacttgctctctgttggccGtcagagggtgggtgcccagc	14	11	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr2:100623626G>A	uc002taf.3	-	4	690	c.546C>T	c.(544-546)gaC>gaT	p.D182D	AFF3_uc002tag.3_Silent_p.D157D|AFF3_uc010fiq.1_Silent_p.D157D|AFF3_uc010yvr.1_Silent_p.D311D|AFF3_uc002tah.1_Silent_p.D182D|AFF3_uc010fir.1_Silent_p.D234D	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	157					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGTTGGCCGTCAGAGGGTG	0.498													38	69					0	0	1	0	0	A	100623626	G	A	100623626	2	1	196	1	0	0	0	0	0	0	0	1	358	1136	40	1		1	AFF3	2	100623626	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		100623626	142575747	10	3445											
SLC22A14	9389	broad.mit.edu	37	chr3	38357110	38357110	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acagagctgaaatccatgacGatcttggtgctcatgctcag	10	10	3	3			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38357110G>T	uc010hhc.1	+	8	1482	c.1440G>T	c.(1438-1440)acG>acT	p.T480T	SLC22A14_uc003cib.2_Silent_p.T480T|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	480						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		AATCCATGACGATCTTGGTGC	0.592													74	133					0	0	1	0	0	T	38357110	G	T	38357110	2	4	196	1	0	0	0	0	0	0	0	1	14445	1045	37	4		4	SLC22A14	3	38357110	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		38357110	159665320	11	3446											
ACVR2B	93	broad.mit.edu	37	chr3	38523689	38523689	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcctctgtcctcacatagGtaggcacgagacggtacatg	10	13	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38523689G>C	uc003cif.3	+	9	1099	c.1075_splice	c.e9-1	p.V359_splice	ACVR2B_uc003cig.3_Splice_Site_p.V150_splice	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	359	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCTCACATAGGTAGGCACGAG	0.562													26	70					0	0	1	0	0	C	38523689	G	C	38523689	5	2	196	1	0	0	0	0	0	0	1	0	224	1275	44	4	1109	4	ACVR2B	3	38523689	Splice_Site	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	166579	38523689	159498741	12	3447											
UQCRC1	7384	broad.mit.edu	37	chr3	48637950	48637950	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcatttctgaggatgTttttgccccgggccacctca	11	13	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:48637950T>A	uc003cub.1	-	9	1223	c.1178A>T	c.(1177-1179)aAc>aTc	p.N393I		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	393					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TCTGAGGATGTTTTTGCCCCG	0.567													33	57					0	0	1	0	0	A	48637950	T	A	48637950	3	1	196	1	0	0	0	0	1	0	0	0	17016	1725	60	5	280	5	UQCRC1	3	48637950	Missense_Mutation	SNP	T	TCGA-EL-A3MZ-01A-11D-A21A-08	10114261	48637950	149384480	13	3448											
KPNA1	3836	broad.mit.edu	37	chr3	122168506	122168506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatctgatagatatgagaGggcccagcaggcatcagcca	11	11	2	3			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:122168506G>A	uc003efe.2	-	8	1020	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	KPNA1_uc003efb.1_Missense_Mutation_p.L77F|KPNA1_uc003efc.1_Missense_Mutation_p.L77F|KPNA1_uc011bjr.1_Missense_Mutation_p.L77F|KPNA1_uc010hrh.2_Missense_Mutation_p.L77F	NM_002264	NP_002255	P52294	IMA1_HUMAN	Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.	278	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AGATATGAGAGGGCCCAGCAG	0.433													3	94					0	0	1	0	0	A	122168506	G	A	122168506	3	1	196	1	0	0	0	0	1	0	0	0	8429	1000	35	2	808	2	KPNA1	3	122168506	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	73530556	122168506	75853924	14	3449											
YTHDC1	91746	broad.mit.edu	37	chr4	69197877	69197877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctttatgaggaaaaatcTtgcatcttgaagcacatatt	6	7	3	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr4:69197877T>C	uc003hdx.3	-	6	1419	c.1066A>G	c.(1066-1068)Aga>Gga	p.R356G	YTHDC1_uc003hdy.3_Missense_Mutation_p.R338G	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	356	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGGAAAAATCTTGCATCTTGA	0.343													21	73					0	0	1	0	0	C	69197877	T	C	69197877	3	2	196	1	0	0	0	0	1	0	0	0	17493	1617	56	3	1161	3	YTHDC1	4	69197877	Missense_Mutation	SNP	T	TCGA-EL-A3MZ-01A-11D-A21A-08		69197877	121956399	15	3450											
TERT	7015	broad.mit.edu	37	chr5	1293592	1293592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgggggcaccagccggCgcaggcaggcccgcacgaag	18	15	0	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr5:1293592C>T	uc003jcb.1	-	1	1467	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	TERT_uc003jcc.1_Missense_Mutation_p.R470H|TERT_uc003jca.1_Missense_Mutation_p.R470H|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	470	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACCAGCCGGCGCAGGCAGGC	0.687									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	7					0	0	1	0	0	T	1293592	C	T	1293592	3	4	196	1	0	0	0	0	1	0	0	0	15761	768	27	1	2049	1	TERT	5	1293592	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		1293592	179621668	16	3451											
IGF2R	3482	broad.mit.edu	37	chr6	160464296	160464296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaaggcacgagggtgtcccGaggacgcggcagtgtgtgca	18	10	0	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr6:160464296G>A	uc003qta.3	+	11	1745	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	533					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGGTGTCCCGAGGACGCGGC	0.493													60	133					0	0	1	0	0	A	160464296	G	A	160464296	3	1	196	1	0	0	0	0	1	0	0	0	7576	1059	37	1	1643	1	IGF2R	6	160464296	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		160464296	10650771	17	3452											
C7orf25	79020	broad.mit.edu	37	chr7	42971806	42971806	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacacatgcgcactgtggccGatttcctttcatttccccgc	7	16	1	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:42971806G>A	uc010kxr.3	-	1	1	c.-929_splice	c.e1-1		PSMA2_uc003thy.3_Splice_Site|PSMA2_uc003thz.1_Splice_Site|MRPL32_uc003tia.3_5'Flank|MRPL32_uc003tib.3_5'Flank	NM_001099858	NP_001093328	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.											endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACTGTGGCCGATTTCCTTTC	0.537													22	33					0	0	1	0	0	A	42971806	G	A	42971806	5	1	196	1	0	0	0	0	0	0	1	0	2380	1073	37	1		1	C7orf25	7	42971806	Splice_Site	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		42971806	116166857	18	3453											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				39	66					0	0	1	0	0	T	140453136	A	T	140453136	3	4	196	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	97481330	140453136	18685527	19	3454											
C7orf33	202865	broad.mit.edu	37	chr7	148288066	148288066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagagtgtccctggagaCttccaggcccccaatgtgaa	11	11	0	4			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:148288066C>A	uc003wew.3	+	0	410	c.49C>A	c.(49-51)Ctt>Att	p.L17I		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	17										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCCCTGGAGACTTCCAGGCCC	0.567													24	65					0	0	1	0	0	A	148288066	C	A	148288066	3	1	196	1	0	0	0	0	1	0	0	0	2388	565	20	4	51	4	C7orf33	7	148288066	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	7834930	148288066	10850597	20	3455											
RBM12B	389677	broad.mit.edu	37	chr8	94747584	94747584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattggatcaatatgaactGgacgatattgtaaaacagtc	8	5	1	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr8:94747584G>A	uc003yfz.3	-	2	1248	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	RBM12B_uc022aye.1_Missense_Mutation_p.P352L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	352	RRM 2.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AATATGAACTGGACGATATTG	0.363													18	42					0	0	1	0	0	A	94747584	G	A	94747584	3	1	196	1	0	0	0	0	1	0	0	0	13114	1348	47	2	1954	2	RBM12B	8	94747584	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		94747584	51616438	21	3456											
PHOX2A	401	broad.mit.edu	37	chr11	71950915	71950915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtagttcggccgctcccgCgccaggcccgccgcccccac	11	21	0	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr11:71950915C>T	uc001osh.4	-	2	905	c.733G>A	c.(733-735)Gcg>Acg	p.A245T		NM_005169	NP_005160	O14813	PHX2A_HUMAN	Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.	245	Poly-Gly.				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						GCCGCTCCCGCGCCAGGCCCG	0.771													3	8					0	0	1	0	0	T	71950915	C	T	71950915	3	4	196	1	0	0	0	0	1	0	0	0	11858	768	27	1	125	1	PHOX2A	11	71950915	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		71950915	63055601	22	3457											
RERGL	79785	broad.mit.edu	37	chr12	18237559	18237559	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caataacaaacccatctgccCagtgaagctcacttgtgagg	8	12	2	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:18237559C>T	uc001rdq.3	-	4	421	c.227G>A	c.(226-228)tGg>tAg	p.W76*		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	76	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CCCATCTGCCCAGTGAAGCTC	0.398													55	93					0	0	1	0	0	T	18237559	C	T	18237559	4	4	196	1	0	0	0	0	0	1	0	0	13233	595	21	2	398	2	RERGL	12	18237559	Nonsense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		18237559	115614336	23	3458											
AQP5	362	broad.mit.edu	37	chr12	50357924	50357924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgctcttttggccctgCggtggtcatgaatcggttca	12	12	3	1	rs117761535	byFrequency	TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:50357924C>T	uc001rvo.2	+	2	1100	c.578C>T	c.(577-579)gCg>gTg	p.A193V		NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	193					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TTTGGCCCTGCGGTGGTCATG	0.612													44	91					0	0	1	0	0	T	50357924	C	T	50357924	3	4	196	1	0	0	0	0	1	0	0	0	829	768	27	1	588	1	AQP5	12	50357924	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	32120365	50357924	83493971	24	3459											
SBNO1	55206	broad.mit.edu	37	chr12	123805012	123805012	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagggccaccaagttcatcGataagttcatccagggtatt	9	10	3	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:123805012G>A	uc010tap.2	-	17	2634	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	SBNO1_uc010tao.2_Silent_p.I877I|SBNO1_uc010taq.2_Intron	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	878							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAAGTTCATCGATAAGTTCAT	0.438													34	98					0	0	1	0	0	A	123805012	G	A	123805012	2	1	196	1	0	0	0	0	0	0	0	1	13862	1048	37	1		1	SBNO1	12	123805012	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	73447088	123805012	10046883	25	3460											
THSD1	55901	broad.mit.edu	37	chr13	52971586	52971586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagtgaccactccttggaCgaaggtgcatggtggaggca	15	9	0	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr13:52971586C>T	uc001vgo.3	-	2	1347	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	THSD1_uc001vgp.3_Missense_Mutation_p.V268I|THSD1_uc010tgz.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	268						extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.V268I(2)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTCCTTGGACGAAGGTGCAT	0.562													30	78					0	0	1	0	0	T	52971586	C	T	52971586	3	4	196	1	0	0	0	0	1	0	0	0	15874	536	19	1	1768	1	THSD1	13	52971586	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		52971586	62198292	26	3461											
BDKRB2	624	broad.mit.edu	37	chr14	96706966	96706966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacctggggaacctggccGcagcagacctgatcctggcc	12	15	1	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr14:96706966G>A	uc010avm.1	+	2	497	c.301G>A	c.(301-303)Gca>Aca	p.A101T	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.A74T|BDKRB2_uc001yfg.2_Missense_Mutation_p.A101T	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	101					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GAACCTGGCCGCAGCAGACCT	0.607													4	241					0	0	1	0	0	A	96706966	G	A	96706966	3	1	196	1	0	0	0	0	1	0	0	0	1393	1087	38	1	307	1	BDKRB2	14	96706966	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		96706966	10642574	27	3462											
SEMA7A	8482	broad.mit.edu	37	chr15	74703138	74703138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctcgcagaagtagtGgccgtactgctgcgccgtga	15	12	0	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr15:74703138G>A	uc002axv.3	-	13	1868	c.1828C>T	c.(1828-1830)Cac>Tac	p.H610Y	SEMA7A_uc010ulk.2_Missense_Mutation_p.H445Y|SEMA7A_uc010ull.2_Missense_Mutation_p.H596Y	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	610	Ig-like C2-type.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CAGAAGTAGTGGCCGTACTGC	0.637													27	44					0	0	1	0	0	A	74703138	G	A	74703138	3	1	196	1	0	0	0	0	1	0	0	0	14043	1348	47	2	176	2	SEMA7A	15	74703138	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		74703138	27828254	28	3463											
NLRC3	197358	broad.mit.edu	37	chr16	3614041	3614041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcctcggggaacatctgCtccaaacacaccttgatctc	8	14	2	1			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:3614041C>T	uc010btn.3	-	4	1308	c.897G>A	c.(895-897)gaG>gaA	p.E299E		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	299	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAACATCTGCTCCAAACACA	0.627													5	78					0	0	1	0	0	T	3614041	C	T	3614041	2	4	196	1	0	0	0	0	0	0	0	1	10468	796	28	2		2	NLRC3	16	3614041	Silent	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		3614041	86740712	29	3464											
NFAT5	10725	broad.mit.edu	37	chr16	69727910	69727910	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagtaactctcttcttAtctccagcatccatgtctgc	5	14	4	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:69727910A>T	uc002exl.2	+	12	4518	c.4182A>T	c.(4180-4182)ttA>ttT	p.L1394F	NFAT5_uc002exj.2_Missense_Mutation_p.L1300F|NFAT5_uc002exk.2_Missense_Mutation_p.L1300F|NFAT5_uc002exn.2_Missense_Mutation_p.L1393F|NFAT5_uc002exm.2_Missense_Mutation_p.L1376F|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Missense_Mutation_p.L1300F	NM_138713	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.	1376					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCTCTTCTTATCTCCAGCAT	0.453													29	61					0	0	1	0	0	T	69727910	A	T	69727910	3	4	196	1	0	0	0	0	1	0	0	0	10360	446	16	5	4232	5	NFAT5	16	69727910	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	66113869	69727910	20626843	30	3465											
ARID3A	1820	broad.mit.edu	37	chr19	929631	929631	+	Frame_Shift_Del	DEL	C	C	-													cccccgatccccctgctgcaCcccccggccgggcccgggct							TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:929631delC	uc002lql.3	+	1	393	c.103delC	c.(103-105)cccfs	p.P35fs		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	35						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCTGCAccccccggccg	0.741													2	4	---	---	---	---						-	929631	C	-	929631	7	5	196	1	0	1	0	1	0	0	0	0	916	507	18	0	105	0	ARID3A	19	929631	Frame_Shift_Del	DEL	C	TCGA-EL-A3MZ-01A-11D-A21A-08		929631	58199352	31	3466											
DMRTC2	63946	broad.mit.edu	37	chr19	42351650	42351650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaaccatggtgtcaccGcccatctcaagggccacaag	10	16	2	0			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:42351650G>A	uc010xwe.2	+	1	237	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.A52T	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	52					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGTGTCACCGCCCATCTCAA	0.617													4	117					0	0	1	0	0	A	42351650	G	A	42351650	3	1	196	1	0	0	0	0	1	0	0	0	4591	1087	38	1	156	1	DMRTC2	19	42351650	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	41422019	42351650	16777333	32	3467											
SYNGR4	23546	broad.mit.edu	37	chr19	48869181	48869181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaagaccatcacgcggGtcttcgaaggggtgaggccc	15	13	2	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:48869181G>T	uc002piz.3	+	1	333	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F	TMEM143_uc002piw.1_5'Flank|TMEM143_uc010xzn.1_5'Flank|TMEM143_uc010elw.1_5'Flank|TMEM143_uc010xzo.1_5'Flank|TMEM143_uc002pix.1_5'Flank|TMEM143_uc002piy.1_5'Flank|TMEM143_uc010xzp.1_5'Flank|TMEM143_uc010xzq.1_5'Flank|Mir_324_uc021uwt.1_5'Flank	NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	28	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CATCACGCGGGTCTTCGAAGG	0.617													41	52					0	0	1	0	0	T	48869181	G	T	48869181	3	4	196	1	0	0	0	0	1	0	0	0	15448	1261	44	4	84	4	SYNGR4	19	48869181	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	6517531	48869181	10259802	33	3468											
PPP2R1A	5518	broad.mit.edu	37	chr19	52719042	52719042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgcagctccagaaagCagtggggcctgagatcacca	12	12	2	2			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:52719042C>T	uc002pyp.3	+	6	1113	c.818C>T	c.(817-819)gCa>gTa	p.A273V	PPP2R1A_uc010ydk.2_Missense_Mutation_p.A218V|PPP2R1A_uc010epm.1_Missense_Mutation_p.A313V|PPP2R1A_uc002pyq.3_Missense_Mutation_p.A94V	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	273	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCCAGAAAGCAGTGGGGCCT	0.577			Mis		clear cell ovarian carcinoma								29	69					0	0	1	0	0	T	52719042	C	T	52719042	3	4	196	1	0	0	0	0	1	0	0	0	12382	710	25	2	844	2	PPP2R1A	19	52719042	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	3849861	52719042	6409941	34	3469											
HBXIP	10542	broad.mit.edu	37	chr1	110950445	110950445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgacgaaggcttgggCtccccgcgcggtgaccgtcg	16	14	0	2			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr1:110950445C>T	uc001dzr.3	-	0	102	c.44G>A	c.(43-45)aGc>aAc	p.S15N		NM_006402	NP_006393	O43504	HBXIP_HUMAN	Homo sapiens hepatitis B virus x interacting protein (HBXIP), mRNA.	15					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		AAGGCTTGGGCTCCCCGCGCG	0.627													33	41					0	0	1	0	0	T	110950445	C	T	110950445	3	4	197	1	0	0	0	0	1	0	0	0	6988	797	28	2	493	2	HBXIP	1	110950445	Missense_Mutation	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		110950445	138300176	1	3470											
ITGAV	3685	broad.mit.edu	37	chr2	187532443	187532443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgattccaaactgggaGcacaaggagaaccctgagac	10	12	0	2			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr2:187532443G>A	uc002upq.3	+	23	2649	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ITGAV_uc010frs.3_Silent_p.E755E|ITGAV_uc010zfv.2_Silent_p.E745E	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	791					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CAAACTGGGAGCACAAGGAGA	0.418													4	172					0	0	1	0	0	A	187532443	G	A	187532443	2	1	197	1	0	0	0	0	0	0	0	1	7888	962	34	2		2	ITGAV	2	187532443	Silent	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		187532443	55666930	2	3471											
CACNA2D3	55799	broad.mit.edu	37	chr3	54919331	54919331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcatgacttagaacatcccGatgtgtccttggcagatgaa	10	9	0	4			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr3:54919331G>A	uc003dhf.3	+	21	1984	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D552N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.D380N|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	646						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGAACATCCCGATGTGTCCTT	0.483													50	86					0	0	1	0	0	A	54919331	G	A	54919331	3	1	197	1	0	0	0	0	1	0	0	0	2550	1058	37	1	2022	1	CACNA2D3	3	54919331	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		54919331	143103099	3	3472											
BAZ1B	9031	broad.mit.edu	37	chr7	72861634	72861634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatcttcttcctcctcctcCtcttcttcctcctcctcctc	0	21	4	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr7:72861634C>T	uc003tyc.3	-	15	4156	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1268	Poly-Glu.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				cctcctcctcctcttcttcct	0.438													4	109					0	0	1	0	0	T	72861634	C	T	72861634	2	4	197	1	0	0	0	0	0	0	0	1	1330	680	24	2		2	BAZ1B	7	72861634	Silent	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		72861634	86277029	4	3473											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	57					0	0	1	0	0	T	140453136	A	T	140453136	3	4	197	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3N2-01A-11D-A20C-08	67591502	140453136	18685527	5	3474											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	16	10	1	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr8:12957624C>G	uc003wwm.2	-	8	2666	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													4	98					0	0	1	0	0	G	12957624	C	G	12957624	3	3	197	1	0	0	0	0	1	0	0	0	4550	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		12957624	133406398	6	3475											
ZNF16	7564	broad.mit.edu	37	chr8	146156288	146156288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacactcactgcatttgtAggggcgctcgcccgtgtgga	12	14	1	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr8:146156288A>G	uc003zet.3	-	3	2072	c.1885T>C	c.(1885-1887)Tac>Cac	p.Y629H	ZNF16_uc003zeu.3_Missense_Mutation_p.Y629H	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGCATTTGTAGGGGCGCTCG	0.537													4	150					0	0	1	0	0	G	146156288	A	G	146156288	3	3	197	1	0	0	0	0	1	0	0	0	17735	420	15	3	167	3	ZNF16	8	146156288	Missense_Mutation	SNP	A	TCGA-EL-A3N2-01A-11D-A20C-08	133198664	146156288	207734	7	3476											
JAK2	3717	broad.mit.edu	37	chr9	5044418	5044418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagattttactttcctcgTtggtattgcagtggcagcaa	10	7	0	1			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr9:5044418T>C	uc010mhm.3	+	3	479	c.366T>C	c.(364-366)cgT>cgC	p.R122R	JAK2_uc003ziw.3_Silent_p.R122R	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	122	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACTTTCCTCGTTGGTATTGCA	0.393		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				3	138					0	0	1	0	0	C	5044418	T	C	5044418	2	2	197	1	0	0	0	0	0	0	0	1	7938	1712	60	3		3	JAK2	9	5044418	Silent	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08		5044418	136169013	8	3477											
FBXO10	26267	broad.mit.edu	37	chr9	37537802	37537802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcacagttttccaggaCacacaggggcacgttgtgca	10	10	1	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr9:37537802C>T	uc004aac.3	-	2	852	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	FBXO10_uc004aab.3_Missense_Mutation_p.V242I|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	242						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TTTTCCAGGACACACAGGGGC	0.498													27	56					0	0	1	0	0	T	37537802	C	T	37537802	3	4	197	1	0	0	0	0	1	0	0	0	5726	478	17	2	2182	2	FBXO10	9	37537802	Missense_Mutation	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08	32493384	37537802	103675629	9	3478											
DDX51	317781	broad.mit.edu	37	chr12	132625900	132625900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgctctggaaggcggcCgccaccacccgcggcagcca	12	19	1	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr12:132625900C>T	uc001ujy.4	-	7	1209	c.1170G>A	c.(1168-1170)gcG>gcA	p.A390A		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	390	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAAGGCGGCCGCCACCACCC	0.687													91	159					0	0	1	0	0	T	132625900	C	T	132625900	2	4	197	1	0	0	0	0	0	0	0	1	4369	639	23	1		1	DDX51	12	132625900	Silent	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		132625900	1225995	10	3479											
SLC5A2	6524	broad.mit.edu	37	chr16	31500259	31500259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcccgtggtgcaggcgGcacagggcgggcagctcttc	17	13	1	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr16:31500259G>A	uc002ecf.4	+	10	1358	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	SLC5A2_uc010car.3_Intron|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	447					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GGTGCAGGCGGCACAGGGCGG	0.682													4	126					0	0	1	0	0	A	31500259	G	A	31500259	3	1	197	1	0	0	0	0	1	0	0	0	14665	1203	42	2	1381	2	SLC5A2	16	31500259	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		31500259	58854494	11	3480											
KCNA7	3743	broad.mit.edu	37	chr19	49575500	49575500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagggggcgctcgggcgGcaccgggcagccctcgtcct	19	15	0	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr19:49575500G>A	uc002pmg.3	-	0	699	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	115						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CGCTCGGGCGGCACCGGGCAG	0.746													3	37					0	0	1	0	0	A	49575500	G	A	49575500	3	1	197	1	0	0	0	0	1	0	0	0	8008	1203	42	2	1035	2	KCNA7	19	49575500	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		49575500	9553483	12	3481											
NLRP5	126206	broad.mit.edu	37	chr19	56539568	56539568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctgctgggctgtcccGttcccctgggggtgaagcag	16	12	0	1			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr19:56539568G>A	uc002qmj.3	+	6	1969	c.1969G>A	c.(1969-1971)Gtt>Att	p.V657I	NLRP5_uc002qmi.3_Missense_Mutation_p.V638I	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	657						mitochondrion|nucleolus	ATP binding	p.V657I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGCTGTCCCGTTCCCCTGGG	0.597													50	76					0	0	1	0	0	A	56539568	G	A	56539568	3	1	197	1	0	0	0	0	1	0	0	0	10480	1145	40	1	1995	1	NLRP5	19	56539568	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08	6964068	56539568	2589415	13	3482											
SEL1L2	80343	broad.mit.edu	37	chr20	13850192	13850192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgcgtcgggccacccTttttccgcagctttctgaaa	9	13	1	1			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr20:13850192T>C	uc010gcf.3	-	13	1294	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	SEL1L2_uc002woq.4_Silent_p.K265K|SEL1L2_uc010zrl.2_Silent_p.K404K|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	404						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGGCCACCCTTTTTCCGCAG	0.393													3	111					0	0	1	0	0	C	13850192	T	C	13850192	2	2	197	1	0	0	0	0	0	0	0	1	14011	1606	56	3		3	SEL1L2	20	13850192	Silent	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08		13850192	49175328	14	3483											
NCOA6	23054	broad.mit.edu	37	chr20	33338270	33338270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgcatcatatttggCggcccgtgggacacctgcat	13	12	1	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr20:33338270C>T	uc002xav.3	-	9	4299	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	NCOA6_uc002xaw.3_Silent_p.P576P|NCOA6_uc021wcd.1_Silent_p.P576P|NCOA6_uc021wce.1_Silent_p.P576P|NCOA6_uc021wcf.1_Silent_p.P576P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	576	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.G575W(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCATATTTGGCGGCCCGTGGG	0.453													4	135					0	0	1	0	0	T	33338270	C	T	33338270	2	4	197	1	0	0	0	0	0	0	0	1	10233	755	27	1		1	NCOA6	20	33338270	Silent	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08	19488078	33338270	29687250	15	3484											
CBX6	23466	broad.mit.edu	37	chr22	39262611	39262611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagaggactgtggtgtaGgcgaggggcagccggaggag	22	6	1	1			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr22:39262611G>A	uc003awl.3	-	4	905	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	281					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTGTGGTGTAGGCGAGGGGCA	0.746													13	11					0	0	1	0	0	A	39262611	G	A	39262611	3	1	197	1	0	0	0	0	1	0	0	0	2722	1000	35	2	400	2	CBX6	22	39262611	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		39262611	12041955	16	3485											
TAF1	6872	broad.mit.edu	37	chrX	70598838	70598838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctggcaggctggcttccTtctagcatgactaggaatgc	12	11	1	1			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:70598838T>C	uc004dzt.4	+	7	1428	c.1377T>C	c.(1375-1377)ccT>ccC	p.P459P	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzu.4_Silent_p.P438P	NM_004606	NP_004597	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 1, mRNA.	438					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity	p.L458V(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCTGGCTTCCTTCTAGCATGA	0.498													5	287					0	0	1	0	0	C	70598838	T	C	70598838	2	2	197	1	0	0	0	0	0	0	0	1	15510	1596	56	3		3	TAF1	23	70598838	Silent	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08		70598838	84671722	17	3486											
SRPX2	27286	broad.mit.edu	37	chrX	99920610	99920610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgttacactgcctatgaccGagcctacaaccgggccagct	9	15	0	1	rs146063801	byFrequency	TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:99920610G>A	uc004egb.3	+	6	1217	c.737G>A	c.(736-738)cGa>cAa	p.R246Q		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	246	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCCTATGACCGAGCCTACAAC	0.488													105	194					0	0	1	0	0	A	99920610	G	A	99920610	3	1	197	1	0	0	0	0	1	0	0	0	15164	1058	37	1	759	1	SRPX2	23	99920610	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08	29321772	99920610	55349950	18	3487											
NXF3	56000	broad.mit.edu	37	chrX	102339349	102339349	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggtttttgctctctcTccatgttaacgtgggtttgg	12	8	2	0			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:102339349T>A	uc004eju.3	-	2	343	c.272A>T	c.(271-273)gAg>gTg	p.E91V	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.E91V|NXF3_uc011mrx.1_Missense_Mutation_p.E2V	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	91						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGCTCTCTCTCCATGTTAAC	0.478													111	173					0	0	1	0	0	A	102339349	T	A	102339349	3	1	197	1	0	0	0	0	1	0	0	0	10785	1551	54	5	1391	5	NXF3	23	102339349	Missense_Mutation	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08	2418739	102339349	52931211	19	3488											
CHD5	26038	broad.mit.edu	37	chr1	6194802	6194802	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagccacagggaagaggtaGgggtggttgcagcacttttt	16	7	0	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr1:6194802G>C	uc001amb.2	-	18	3099	c.2988C>G	c.(2986-2988)ccC>ccG	p.P996P	CHD5_uc001alz.2_5'Flank|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	996					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAAGAGGTAGGGGTGGTTGC	0.587													76	195					0	0	1	0	0	C	6194802	G	C	6194802	2	2	198	1	0	0	0	0	0	0	0	1	3328	987	35	4		4	CHD5	1	6194802	Silent	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08		6194802	243055819	1	3489											
KIAA0090	23065	broad.mit.edu	37	chr1	19557814	19557814	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcttgatccatgactgggaGaagcaaggactgcaagatgg	14	7	1	4			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr1:19557814G>A	uc001bbo.3	-	15	1928	c.1885C>T	c.(1885-1887)Ctc>Ttc	p.L629F	KIAA0090_uc001bbp.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbq.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbr.3_Missense_Mutation_p.L607F	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	629						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		ATGACTGGGAGAAGCAAGGAC	0.502													4	256					0	0	1	0	0	A	19557814	G	A	19557814	3	1	198	1	0	0	0	0	1	0	0	0	8153	942	33	2	1128	2	KIAA0090	1	19557814	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	13363012	19557814	229692807	2	3490											
TCF7L1	83439	broad.mit.edu	37	chr2	85533408	85533408	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgccttcatgttgtatAtgaaggagatgagggccaag	13	5	1	4			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:85533408A>T	uc002soy.3	+	8	1294	c.1069A>T	c.(1069-1071)Atg>Ttg	p.M357L		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	357					Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CATGTTGTATATGAAGGAGAT	0.512													22	58					0	0	1	0	0	T	85533408	A	T	85533408	3	4	198	1	0	0	0	0	1	0	0	0	15694	449	16	5	1103	5	TCF7L1	2	85533408	Missense_Mutation	SNP	A	TCGA-EL-A3N3-01A-11D-A20C-08		85533408	157665965	3	3491											
BOLL	66037	broad.mit.edu	37	chr2	198640461	198640461	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atccttataattaagtttttCagcctaaaataaagaaaaaa	3	5	1	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:198640461C>G	uc002uuu.1	-	4	677	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	BOLL_uc002uur.2_Missense_Mutation_p.E100Q|BOLL_uc002uus.2_Missense_Mutation_p.E94Q|BOLL_uc002uut.2_Missense_Mutation_p.E106Q|BOLL_uc010zha.1_Intron	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	94	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TTAAGTTTTTCAGCCtaaaat	0.249													10	39					0	0	1	0	0	G	198640461	C	G	198640461	3	3	198	1	0	0	0	0	1	0	0	0	1487	835	29	4	599	4	BOLL	2	198640461	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08	113107053	198640461	44558912	4	3492											
MYLK	4638	broad.mit.edu	37	chr3	123420311	123420311	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggctctggcagagctgttCtgtagcatcagtgacacctg	13	10	3	2			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr3:123420311C>T	uc003ego.3	-	16	2718	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	MYLK_uc011bjw.2_Silent_p.Q812Q|MYLK_uc003egp.3_Silent_p.Q743Q|MYLK_uc003egq.3_Silent_p.Q812Q|MYLK_uc003egr.3_Silent_p.Q743Q|MYLK_uc003egs.3_Silent_p.Q636Q|MYLK_uc003egt.3_Silent_p.Q3Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	812	Ig-like C2-type 6.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGAGCTGTTCTGTAGCATCA	0.607													32	170					0	0	1	0	0	T	123420311	C	T	123420311	2	4	198	1	0	0	0	0	0	0	0	1	10056	912	32	2		2	MYLK	3	123420311	Silent	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08		123420311	74602119	5	3493											
ODZ2	57451	broad.mit.edu	37	chr5	167655023	167655023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccatcacccccaccaTtggacgctgcaacatctccc	7	19	2	0	rs6859235		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr5:167655023T>C	uc010jjd.3	+	24	5381	c.5381T>C	c.(5380-5382)aTt>aCt	p.I1794T	ODZ2_uc003lzr.4_Missense_Mutation_p.I1564T|ODZ2_uc003lzt.4_Missense_Mutation_p.I1167T|ODZ2_uc010jje.3_Missense_Mutation_p.I1058T	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACCCCCACCATTGGACGCTGC	0.512													19	31					0	0	1	0	0	C	167655023	T	C	167655023	3	2	198	1	0	0	0	0	1	0	0	0	10835	1493	52	3	5479	3	ODZ2	5	167655023	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		167655023	13260237	6	3494											
MDN1	23195	broad.mit.edu	37	chr6	90384187	90384187	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggatctggcactgcaTggccaggtgctgcaggcgct	15	11	1	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:90384187T>A	uc003pnn.1	-	78	12999	c.12883A>T	c.(12883-12885)Atg>Ttg	p.M4295L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4295					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGCACTGCATGGCCAGGTGC	0.652													9	19					0	0	1	0	0	A	90384187	T	A	90384187	3	1	198	1	0	0	0	0	1	0	0	0	9415	1464	51	5	4003	5	MDN1	6	90384187	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		90384187	80730880	7	3495											
CENPW	387103	broad.mit.edu	37	chr6	126661490	126661490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccgtggctttctaaagcGagtcttcaagcgaaagaagc	10	11	3	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:126661490G>A	uc003qao.3	+	0	238	c.71G>A	c.(70-72)cGa>cAa	p.R24Q		NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN	Homo sapiens centromere protein W (CENPW), mRNA.	24						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						TTTCTAAAGCGAGTCTTCAAG	0.542													26	52					0	0	1	0	0	A	126661490	G	A	126661490	3	1	198	1	0	0	0	0	1	0	0	0	3244	1058	37	1	73	1	CENPW	6	126661490	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	36277303	126661490	44453577	8	3496											
SYNE1	23345	broad.mit.edu	37	chr6	152590391	152590391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtggctgttaggtcaaCatcgctctcctccttctcct	8	15	3	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:152590391C>A	uc021zhb.1	-	96	18827	c.18604G>T	c.(18604-18606)Gtt>Ttt	p.V6202F	SYNE1_uc003qos.4_Missense_Mutation_p.V726F|SYNE1_uc003qot.4_Missense_Mutation_p.V6131F|SYNE1_uc003qou.4_Missense_Mutation_p.V6202F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6202					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTAGGTCAACATCGCTCTCC	0.562										HNSCC(10;0.0054)			28	84					0	0	1	0	0	A	152590391	C	A	152590391	3	1	198	1	0	0	0	0	1	0	0	0	15442	478	17	4	8054	4	SYNE1	6	152590391	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08	25928901	152590391	18524676	9	3497											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	82					0	0	1	0	0	T	140453136	A	T	140453136	3	4	198	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3N3-01A-11D-A20C-08		140453136	18685527	10	3498											
SLC4A2	6522	broad.mit.edu	37	chr7	150773217	150773217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcctcatcctcacaGtgccgctccgcatggtggtg	9	16	3	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:150773217G>A	uc022apz.1	+	21	4629	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	SLC4A2_uc003wit.4_Missense_Mutation_p.V1197M|SLC4A2_uc011kve.2_Missense_Mutation_p.V1188M|SLC4A2_uc003wiu.4_Missense_Mutation_p.V1183M|AK296065_uc011kvf.2_Silent_p.H76H	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	1197	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCCTCACAGTGCCGCTCCG	0.637													4	318					0	0	1	0	0	A	150773217	G	A	150773217	3	1	198	1	0	0	0	0	1	0	0	0	14654	1029	36	2	3671	2	SLC4A2	7	150773217	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	10320081	150773217	8365446	11	3499											
LGI3	203190	broad.mit.edu	37	chr8	22009364	22009364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgatgcaatcgaacTcccgcagcggcaggtcctgc	13	13	0	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr8:22009364T>C	uc003xav.3	-	5	933	c.644A>G	c.(643-645)gAg>gGg	p.E215G	LGI3_uc010ltu.3_Missense_Mutation_p.E191G	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	215	LRRCT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCAATCGAACTCCCGCAGCGG	0.647													52	133					0	0	1	0	0	C	22009364	T	C	22009364	3	2	198	1	0	0	0	0	1	0	0	0	8753	1551	54	3	1014	3	LGI3	8	22009364	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		22009364	124354658	12	3500											
DTX1	1840	broad.mit.edu	37	chr12	113532726	113532726	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccacctgctgtgcctcGtggccatgtactccaatggc	10	14	0	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113532726G>C	uc001tuk.1	+	5	1696	c.1360G>C	c.(1360-1362)Gtg>Ctg	p.V454L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	454					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTGTGCCTCGTGGCCATGTA	0.657													49	94					0	0	1	0	0	C	113532726	G	C	113532726	3	2	198	1	0	0	0	0	1	0	0	0	4793	1145	40	4	1382	4	DTX1	12	113532726	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08		113532726	20319169	13	3501											
RASAL1	8437	broad.mit.edu	37	chr12	113541981	113541981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgcactggaggtaGgtggtgtgcagcgcccccgt	14	13	1	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113541981G>A	uc001tun.2	-	17	2257	c.1956C>T	c.(1954-1956)acC>acT	p.T652T	RASAL1_uc010syp.2_Silent_p.T651T|RASAL1_uc001tul.3_Silent_p.T622T|RASAL1_uc001tum.2_Silent_p.T650T|RASAL1_uc010syq.2_Silent_p.T651T|RASAL1_uc001tuo.4_Silent_p.T651T	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	650	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ACTGGAGGTAGGTGGTGTGCA	0.697													8	33					0	0	1	0	0	A	113541981	G	A	113541981	2	1	198	1	0	0	0	0	0	0	0	1	13063	987	35	2		2	RASAL1	12	113541981	Silent	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	9255	113541981	20309914	14	3502											
TRIM28	10155	broad.mit.edu	37	chr19	59056853	59056853	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacatcgtggagaattatttCatgcgtgatagtggcagcaa	12	6	1	2			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr19:59056853C>A	uc002qtg.1	+	1	691	c.402C>A	c.(400-402)ttC>ttA	p.F134L	TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	134	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGAATTATTTCATGCGTGATA	0.552													4	216					0	0	1	0	0	A	59056853	C	A	59056853	3	1	198	1	0	0	0	0	1	0	0	0	16499	825	29	4	408	4	TRIM28	19	59056853	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08		59056853	72130	15	3503											
CLTCL1	8218	broad.mit.edu	37	chr22	19195776	19195776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatataggactcacggcccTttttcctggccatctgcaga	8	13	2	1			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr22:19195776T>C	uc021wle.1	-	21	3563	c.3488A>G	c.(3487-3489)aAg>aGg	p.K1163R	CLTCL1_uc021wld.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlc.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlf.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agw.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpd.1_Intron|CLTCL1_uc002zpe.2_Missense_Mutation_p.K123R	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1163	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCACGGCCCTTTTTCCTGGC	0.403			T	?	ALCL								3	90					0	0	1	0	0	C	19195776	T	C	19195776	3	2	198	1	0	0	0	0	1	0	0	0	3567	1609	56	3	1478	3	CLTCL1	22	19195776	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		19195776	32108790	16	3504											
MAGEE2	139599	broad.mit.edu	37	chrX	75004811	75004811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgttagtagcttgtaTttcacctctgccgtcgccgt	12	11	2	0			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chrX:75004811T>C	uc004ecj.2	-	0	269	c.76A>G	c.(76-78)Ata>Gta	p.I26V		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	26										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTAGCTTGTATTTCACCTCTG	0.572													19	65					0	0	1	0	0	C	75004811	T	C	75004811	3	2	198	1	0	0	0	0	1	0	0	0	9186	1493	52	3	1499	3	MAGEE2	23	75004811	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		75004811	80265749	17	3505											
LCK	3932	broad.mit.edu	37	chr1	32739980	32739980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgactggatggaaaacaTcgatgtgtgtgagaactgcc	13	6	0	3			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr1:32739980T>C	uc001buz.3	+	1	171	c.50T>C	c.(49-51)aTc>aCc	p.I17T	LCK_uc001bux.3_Missense_Mutation_p.I17T|LCK_uc001buy.3_Missense_Mutation_p.I17T|LCK_uc010ohc.1_Missense_Mutation_p.I61T|LCK_uc001bva.3_Missense_Mutation_p.I17T	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	17	Interactions with CD4 and CD8 (By similarity).				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ATGGAAAACATCGATGTGTGT	0.577			T	TRB@	T-ALL								4	215					0	0	1	0	0	C	32739980	T	C	32739980	3	2	199	1	0	0	0	0	1	0	0	0	8676	1435	50	3	52	3	LCK	1	32739980	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		32739980	216510641	1	3506											
IL12RB2	3595	broad.mit.edu	37	chr1	67833673	67833673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccctctaaactggctacGgagtcgaccctacaatgtgt	10	12	1	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr1:67833673G>A	uc001ddu.3	+	9	2064	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	IL12RB2_uc010oqi.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqj.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqm.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	475	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AACTGGCTACGGAGTCGACCC	0.507													19	103					0	0	1	0	0	A	67833673	G	A	67833673	3	1	199	1	0	0	0	0	1	0	0	0	7627	1116	39	1	1458	1	IL12RB2	1	67833673	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	35093693	67833673	181416948	2	3507											
LBH	81606	broad.mit.edu	37	chr2	30457303	30457303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatcggccaagatgactgAggtgatgatgaacacccagc	13	9	0	7			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr2:30457303A>G	uc002rne.2	+	1	267	c.59A>G	c.(58-60)gAg>gGg	p.E20G		NM_030915	NP_112177	Q53QV2	LBH_HUMAN	Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA.	20					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AAGATGACTGAGGTGATGATG	0.537													3	164					0	0	1	0	0	G	30457303	A	G	30457303	3	3	199	1	0	0	0	0	1	0	0	0	8650	304	11	3	65	3	LBH	2	30457303	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08		30457303	212742070	3	3508											
NLRC4	58484	broad.mit.edu	37	chr2	32475708	32475708	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctggacacatcctgcagttCgaaatcaaacttgtgggaga	11	9	1	1	rs144123569	by1000genomes	TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr2:32475708C>A	uc002roi.3	-	3	1486	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	NLRC4_uc021vfq.1_Nonsense_Mutation_p.E409*|NLRC4_uc002roj.2_Nonsense_Mutation_p.E409*|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	409	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.E409K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTGCAGTTCGAAATCAAAC	0.473													3	37					0	0	1	0	0	A	32475708	C	A	32475708	4	1	199	1	0	0	0	0	0	1	0	0	10469	893	31	4	1873	4	NLRC4	2	32475708	Nonsense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	2018405	32475708	210723665	4	3509											
EIF2B5	8893	broad.mit.edu	37	chr3	183856019	183856019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactggattgtcatatcagCatctgttctcctcaggtgag	9	9	5	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr3:183856019C>T	uc003fmp.3	+	4	1114	c.750C>T	c.(748-750)agC>agT	p.S250S	EIF2B5_uc003fmq.3_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA.	250					RNA metabolic process|astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTCATATCAGCATCTGTTCTC	0.468													9	96					0	0	1	0	0	T	183856019	C	T	183856019	2	4	199	1	0	0	0	0	0	0	0	1	5004	709	25	2		2	EIF2B5	3	183856019	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08		183856019	14166411	5	3510											
MOG	4340	broad.mit.edu	37	chr6	29627259	29627259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctctacagaaatggcaaGgaccaagatggagaccaggc	11	10	1	3			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:29627259G>A	uc003nmy.2	+	1	481	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MOG_uc003qzk.2_Silent_p.K84K|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Silent_p.K14K|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Silent_p.K84K|MOG_uc003nnf.3_Silent_p.K84K|MOG_uc003nng.3_Silent_p.K84K|MOG_uc003nni.3_Silent_p.K84K|MOG_uc003nnh.3_Silent_p.K84K|MOG_uc003nnj.3_Silent_p.K84K|MOG_uc003nnk.3_Silent_p.K84K	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	84	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GAAATGGCAAGGACCAAGATG	0.547													3	139					0	0	1	0	0	A	29627259	G	A	29627259	2	1	199	1	0	0	0	0	0	0	0	1	9693	991	35	2		2	MOG	6	29627259	Silent	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		29627259	141487808	6	3511											
IMPG1	3617	broad.mit.edu	37	chr6	76751728	76751728	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcgatgctttgccaaatcGaatattcgtctcatagttga	8	8	1	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:76751728G>A	uc003pik.1	-	1	313	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	61					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.F61F(2)|p.F61L(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368													20	134					0	0	1	0	0	A	76751728	G	A	76751728	2	1	199	1	0	0	0	0	0	0	0	1	7728	1049	37	1		1	IMPG1	6	76751728	Silent	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	47124469	76751728	94363339	7	3512											
VTA1	51534	broad.mit.edu	37	chr6	142468447	142468447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcgcttgcaccgctgcCcccgctccccgcacagttca	10	21	1	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:142468447C>A	uc003qiw.3	+	0	38	c.23C>A	c.(22-24)cCc>cAc	p.P8H	VTA1_uc011edu.2_5'UTR	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	8	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GCACCGCTGCCCCCGCTCCCC	0.612											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	88					0	0	1	0	0	A	142468447	C	A	142468447	3	1	199	1	0	0	0	0	1	0	0	0	17230	623	22	4	25	4	VTA1	6	142468447	Missense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	65716719	142468447	28646620	8	3513											
ANKRD30A	91074	broad.mit.edu	37	chr10	37414918	37414918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccatcaaccttaataTacaagacgcccagaagaggt	8	10	1	4			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr10:37414918T>C	uc021ppc.1	+	0	134	c.35T>C	c.(34-36)aTa>aCa	p.I12T	ANKRD30A_uc001iza.1_Missense_Mutation_p.I12T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	68						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACCTTAATATACAAGACGCC	0.592													3	39					0	0	1	0	0	C	37414918	T	C	37414918	3	2	199	1	0	0	0	0	1	0	0	0	658	1406	49	3	37	3	ANKRD30A	10	37414918	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		37414918	98119829	9	3514											
PTPRJ	5795	broad.mit.edu	37	chr11	48146708	48146708	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcgaatggcacagaaGgacagccccaggccatagag	13	11	0	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:48146708G>C	uc001ngp.4	+	5	1418	c.1063G>C	c.(1063-1065)Gga>Cga	p.G355R	PTPRJ_uc001ngo.4_Missense_Mutation_p.G355R	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	355	Fibronectin type-III 3.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	p.E354*(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGCACAGAAGGACAGCCCCA	0.532													14	79					0	0	1	0	0	C	48146708	G	C	48146708	3	2	199	1	0	0	0	0	1	0	0	0	12804	1001	35	4	1085	4	PTPRJ	11	48146708	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		48146708	86859808	10	3515											
TM7SF2	7108	broad.mit.edu	37	chr11	64879505	64879506	+	Frame_Shift_Del	DEL	CC	CC	-													accatggcccccactcagggCccccgggccccgctggaatt							TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:64879505_64879506delCC	uc001oct.3	+	0	165_166	c.18_19delCC	c.(16-21)ggccccfs	p.G6fs	TM7SF2_uc010rny.2_5'UTR|TM7SF2_uc001ocu.3_Frame_Shift_Del_p.G6fs|TM7SF2_uc001ocv.3_5'UTR	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	6					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACTCAGGGCCCCCGGGCCCC	0.639													6	12	---	---	---	---						-	64879506	CC	-	64879505	7	5	199	1	0	1	0	1	0	0	0	0	15971	726	26	0	20	0	TM7SF2	11	64879505	Frame_Shift_Del	DEL	CC	TCGA-EL-A3T0-01A-22D-A22D-08	16732797	64879505	70127011	11	3516											
MYO7A	4647	broad.mit.edu	37	chr11	76867737	76867737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccgggaagacggagagcAcaaagctgatcctgcagttc	15	10	0	3			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:76867737A>G	uc001oyb.2	+	5	774	c.502A>G	c.(502-504)Aca>Gca	p.T168A	MYO7A_uc010rsl.2_Missense_Mutation_p.T168A|MYO7A_uc010rsm.1_Missense_Mutation_p.T157A|MYO7A_uc001oyc.2_Missense_Mutation_p.T168A	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	168	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACGGAGAGCACAAAGCTGAT	0.617													7	184					0	0	1	0	0	G	76867737	A	G	76867737	3	3	199	1	0	0	0	0	1	0	0	0	10082	159	6	3	520	3	MYO7A	11	76867737	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	11988232	76867737	58138779	12	3517											
C12orf44	60673	broad.mit.edu	37	chr12	52470924	52470924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgatgccctgggcaccTcagtcaccaccaccatgcgc	8	18	3	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr12:52470924T>C	uc001rzu.4	+	3	1082	c.607T>C	c.(607-609)Tca>Cca	p.S203P	C12orf44_uc009zmd.3_Missense_Mutation_p.S203P|bpl_41-16_uc009zme.2_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Homo sapiens chromosome 12 open reading frame 44 (C12orf44), transcript variant 1, mRNA.	203					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CCTGGGCACCTCAGTCACCAC	0.577													3	99					0	0	1	0	0	C	52470924	T	C	52470924	3	2	199	1	0	0	0	0	1	0	0	0	1690	1551	54	3	613	3	C12orf44	12	52470924	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		52470924	81380971	13	3518											
TMTC4	84899	broad.mit.edu	37	chr13	101278051	101278051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcttactgtatttgaacaGccaaagacagcagctcctca	7	11	1	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr13:101278051G>A	uc001vot.3	-	13	1995	c.1682C>T	c.(1681-1683)gCt>gTt	p.A561V	TMTC4_uc001vou.3_Missense_Mutation_p.A542V|TMTC4_uc010tja.2_Missense_Mutation_p.A431V|TMTC4_uc001vov.1_Missense_Mutation_p.A287V|TMTC4_uc001vow.1_Missense_Mutation_p.A325V	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	542						integral to membrane	binding	p.A561S(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TATTTGAACAGCCAAAGACAG	0.368													4	50					0	0	1	0	0	A	101278051	G	A	101278051	3	1	199	1	0	0	0	0	1	0	0	0	16260	971	34	2	624	2	TMTC4	13	101278051	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		101278051	13891827	14	3519											
PRPF39	55015	broad.mit.edu	37	chr14	45579424	45579424	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttttgaggaacagcaggGtaagagtggagaaattcagt	14	4	1	3			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr14:45579424G>A	uc001wvz.4	+	9	1473	c.1303_splice	c.e9+1	p.G435_splice	PRPF39_uc001wvy.4_Splice_Site_p.G314_splice|PRPF39_uc010and.3_Splice_Site_p.G225_splice|PRPF39_uc001wwa.1_Splice_Site_p.G39_splice|SNORD127_uc010ane.3_5'Flank	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	435					RNA splicing|mRNA processing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAACAGCAGGGTAAGAGTGGA	0.418													3	40					0	0	1	0	0	A	45579424	G	A	45579424	5	1	199	1	0	0	0	0	0	0	1	0	12569	1275	44	2	1334	2	PRPF39	14	45579424	Splice_Site	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		45579424	61770116	15	3520											
SYNE2	23224	broad.mit.edu	37	chr14	64599082	64599082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagagagacattttgggcaGaacaagtaacagaagttaaa	10	5	0	4			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr14:64599082G>A	uc001xgl.3	+	76	14670	c.14440G>A	c.(14440-14442)Gaa>Aaa	p.E4814K	SYNE2_uc001xgm.3_Missense_Mutation_p.E4814K|SYNE2_uc021ruh.1_Missense_Mutation_p.E4731K|SYNE2_uc010apy.3_Missense_Mutation_p.E1199K|SYNE2_uc010apz.1_Missense_Mutation_p.E706K	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4814					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTTGGGCAGAACAAGTAAC	0.383													3	114					0	0	1	0	0	A	64599082	G	A	64599082	3	1	199	1	0	0	0	0	1	0	0	0	15443	943	33	2	14742	2	SYNE2	14	64599082	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	19019658	64599082	42750458	16	3521											
SPTBN5	51332	broad.mit.edu	37	chr15	42159282	42159282	+	Frame_Shift_Del	DEL	G	G	-													gggaagccggtcccgcacccGggggcgccggagcgtcttca							TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr15:42159282delG	uc001zos.3	-	35	6583	c.6250delC	c.(6250-6252)cggfs	p.R2084fs	MIR4310_uc021sjo.1_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2119					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCCGCACCCGGGGGCGCCGG	0.731													2	4	---	---	---	---						-	42159282	G	-	42159282	7	5	199	1	0	1	0	1	0	0	0	0	15121	1115	39	0	4801	0	SPTBN5	15	42159282	Frame_Shift_Del	DEL	G	TCGA-EL-A3T0-01A-22D-A22D-08		42159282	60372110	17	3522											
ABCA3	21	broad.mit.edu	37	chr16	2369769	2369769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacagctggcgtgtggcgGcatcggcatggtactccatg	16	10	0	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr16:2369769G>A	uc002cpy.1	-	7	1398	c.686C>T	c.(685-687)gCc>gTc	p.A229V	ABCA3_uc010bsk.1_Missense_Mutation_p.A229V|ABCA3_uc010bsl.1_Missense_Mutation_p.A229V	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	229					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCGTGTGGCGGCATCGGCATG	0.637													3	144					0	0	1	0	0	A	2369769	G	A	2369769	3	1	199	1	0	0	0	0	1	0	0	0	33	1203	42	2	4532	2	ABCA3	16	2369769	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		2369769	87984984	18	3523											
CENPT	80152	broad.mit.edu	37	chr16	67862707	67862707	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccggggcctagggggAtgcctgaccaacagaggctc	17	11	0	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr16:67862707A>G	uc002eun.4	-	13	1869	c.1320T>C	c.(1318-1320)caT>caC	p.H440H	CENPT_uc010vkc.2_Silent_p.H198H|CENPT_uc010vkd.1_Silent_p.H193H	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	440					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCCTAGGGGGATGCCTGACCA	0.582													3	138					0	0	1	0	0	G	67862707	A	G	67862707	2	3	199	1	0	0	0	0	0	0	0	1	3242	330	12	3		3	CENPT	16	67862707	Silent	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	65492938	67862707	22492046	19	3524											
ZNF426	79088	broad.mit.edu	37	chr19	9640216	9640216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgagtgttccctgtacTttgagttctcacgtgcgtct	10	10	3	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:9640216T>C	uc002mlq.3	-	7	769	c.505A>G	c.(505-507)Agt>Ggt	p.S169G	ZNF426_uc010dws.3_Missense_Mutation_p.S131G	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTCCCTGTACTTTGAGTTCTC	0.428													8	78					0	0	1	0	0	C	9640216	T	C	9640216	3	2	199	1	0	0	0	0	1	0	0	0	17897	1609	56	3	1163	3	ZNF426	19	9640216	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		9640216	49488767	20	3525											
ZNF791	163049	broad.mit.edu	37	chr19	12739914	12739914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatactggagagaaaccctAtaaatgtaaagaatgtggga	11	5	0	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:12739914A>G	uc002mua.2	+	3	1733	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	ZNF791_uc010xml.1_Missense_Mutation_p.Y492C|ZNF791_uc010dyu.1_Missense_Mutation_p.Y415C|ZNF791_uc010xmm.1_Missense_Mutation_p.Y415C	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P523P(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAGAAACCCTATAAATGTAAA	0.388													9	99					0	0	1	0	0	G	12739914	A	G	12739914	3	3	199	1	0	0	0	0	1	0	0	0	18160	449	16	3	1585	3	ZNF791	19	12739914	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	3099698	12739914	46389069	21	3526											
TMEM38A	79041	broad.mit.edu	37	chr19	16799119	16799119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcattcggccatgccCgccaagtccaaggaggagtt	12	13	1	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:16799119C>T	uc002nes.3	+	5	928	c.837C>T	c.(835-837)ccC>ccT	p.P279P		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	279						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CGGCCATGCCCGCCAAGTCCA	0.657													25	75					0	0	1	0	0	T	16799119	C	T	16799119	2	4	199	1	0	0	0	0	0	0	0	1	16156	639	23	1		1	TMEM38A	19	16799119	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	4059205	16799119	42329864	22	3527											
MMP24	10893	broad.mit.edu	37	chr20	33839758	33839758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcacccccacttaagccGtaggcggagaaacaagcgct	10	13	1	2			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:33839758G>A	uc002xbu.2	+	2	449	c.446G>A	c.(445-447)cGt>cAt	p.R149H	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	149	Poly-Arg.				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CACTTAAGCCGTAGGCGGAGA	0.547													4	188					0	0	1	0	0	A	33839758	G	A	33839758	3	1	199	1	0	0	0	0	1	0	0	0	9661	1145	40	1	206	1	MMP24	20	33839758	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		33839758	29185762	23	3528											
ZNF335	63925	broad.mit.edu	37	chr20	44581287	44581287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatgatgtagtgggtgcCagcttcttttagggtgtcac	13	8	2	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:44581287C>T	uc002xqw.3	-	18	2887	c.2764G>A	c.(2764-2766)Ggc>Agc	p.G922S	ZNF335_uc002xqv.3_Missense_Mutation_p.G34S|ZNF335_uc010zxk.2_Missense_Mutation_p.G767S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TAGTGGGTGCCAGCTTCTTTT	0.587													53	166					0	0	1	0	0	T	44581287	C	T	44581287	3	4	199	1	0	0	0	0	1	0	0	0	17849	594	21	2	1304	2	ZNF335	20	44581287	Missense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	10741529	44581287	18444233	24	3529											
COL20A1	57642	broad.mit.edu	37	chr20	61951642	61951642	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggctcccctgcgttgcaGtttcagctccagatgctgca	11	15	1	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:61951642G>A	uc011aau.2	+	25	3176	c.3076_splice	c.e25-1	p.F1026_splice	COL20A1_uc011aav.2_Splice_Site_p.F847_splice	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1026	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGCGTTGCAGTTTCAGCTCC	0.701													3	98					0	0	1	0	0	A	61951642	G	A	61951642	5	1	199	1	0	0	0	0	0	0	1	0	3679	1043	36	2	3169	2	COL20A1	20	61951642	Splice_Site	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	17370355	61951642	1073878	25	3530											
TTC3	7267	broad.mit.edu	37	chr21	38536445	38536445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctctatgaccaacacaGtaacgaatatgttgtccgca	7	11	1	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr21:38536445G>A	uc002yvz.3	+	31	3368	c.3263G>A	c.(3262-3264)aGt>aAt	p.S1088N	TTC3_uc011aee.1_Missense_Mutation_p.S778N|TTC3_uc002ywa.3_Missense_Mutation_p.S1088N|TTC3_uc002ywb.3_Missense_Mutation_p.S1088N|TTC3_uc010gnf.3_Missense_Mutation_p.S853N|TTC3_uc002ywc.3_Missense_Mutation_p.S778N|TTC3_uc002ywd.1_Missense_Mutation_p.S152N	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1088					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GACCAACACAGTAACGAATAT	0.398													3	93					0	0	1	0	0	A	38536445	G	A	38536445	3	1	199	1	0	0	0	0	1	0	0	0	16694	1029	36	2	3385	2	TTC3	21	38536445	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		38536445	9593450	26	3531											
SREBF2	6721	broad.mit.edu	37	chr22	42262982	42262982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaatggcaggggcaGcagcagcggagctgtggacc	17	11	0	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr22:42262982G>A	uc003bbi.3	+	1	405	c.236G>A	c.(235-237)aGc>aAc	p.S79N	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	79	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcaggggcagcagcagcGGA	0.602													3	88					0	0	1	0	0	A	42262982	G	A	42262982	3	1	199	1	0	0	0	0	1	0	0	0	15141	971	34	2	242	2	SREBF2	22	42262982	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		42262982	9041584	27	3532											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044095	51044095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcttcaacatgcgcacGggggagcgcggtgtgtttcc	16	11	1	0			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr22:51044095G>A	uc003bmx.3	+	7	2061	c.1944G>A	c.(1942-1944)acG>acA	p.T648T	MAPK8IP2_uc003bmy.3_Silent_p.T621T|MAPK8IP2_uc011asc.2_Silent_p.T3T	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	649	SH3.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACATGCGCACGGGGGAGCGCG	0.652													3	58					0	0	1	0	0	A	51044095	G	A	51044095	2	1	199	1	0	0	0	0	0	0	0	1	9285	1103	39	1		1	MAPK8IP2	22	51044095	Silent	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	8781113	51044095	260471	28	3533											
MAP7D2	256714	broad.mit.edu	37	chrX	20044031	20044031	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccctgggtagggaggtttCgttgtctttggagactgtgg	17	6	1	1			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chrX:20044031C>T	uc010nfo.2	-	8	1164	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	MAP7D2_uc004czq.2_Silent_p.T193T|MAP7D2_uc011mji.2_Silent_p.T256T|MAP7D2_uc004czr.2_Silent_p.T308T|MAP7D2_uc011mjj.2_Silent_p.T263T	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	308										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGGGAGGTTTCGTTGTCTTTG	0.493													37	252					0	0	1	0	0	T	20044031	C	T	20044031	2	4	199	1	0	0	0	0	0	0	0	1	9268	871	31	1		1	MAP7D2	23	20044031	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08		20044031	135226529	29	3534											
FH	2271	broad.mit.edu	37	chr1	241665851	241665851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatggtcattgcttcacaCtgagtagggttcaccttgcc	9	12	3	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr1:241665851C>A	uc001hyx.3	-	7	1191	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H		NM_000143	NP_000134	P07954	FUMH_HUMAN	Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA.	376					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TTGCTTCACACTGAGTAGGGT	0.408			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				31	57					0	0	1	0	0	A	241665851	C	A	241665851	3	1	200	1	0	0	0	0	1	0	0	0	5875	564	20	4	416	4	FH	1	241665851	Missense_Mutation	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08		241665851	7584770	1	3535											
WDR52	55779	broad.mit.edu	37	chr3	113098181	113098181	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagaacttccctggctctGagtaaaatccacagaggatg	9	12	1	3			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:113098181G>A	uc003ead.2	-	16	2337	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	WDR52_uc003eae.2_Missense_Mutation_p.S757L	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	757										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CCCTGGCTCTGAGTAAAATCC	0.388													14	41					0	0	1	0	0	A	113098181	G	A	113098181	3	1	200	1	0	0	0	0	1	0	0	0	17301	1294	45	2	3385	2	WDR52	3	113098181	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		113098181	84924249	2	3536											
PARP9	83666	broad.mit.edu	37	chr3	122259432	122259432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcccgggctccttcaAtctctaactctgtccttcct	7	16	4	0	rs143155766	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:122259432A>G	uc010hri.3	-	7	1902	c.1757T>C	c.(1756-1758)aTt>aCt	p.I586T	PARP9_uc003eff.4_Missense_Mutation_p.I551T|PARP9_uc011bjs.2_Missense_Mutation_p.I551T|PARP9_uc003efg.3_Missense_Mutation_p.I131T|PARP9_uc003efi.3_Missense_Mutation_p.I551T|PARP9_uc003efh.3_Missense_Mutation_p.I586T|PARP9_uc003efj.2_Missense_Mutation_p.I551T	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	586					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCTCCTTCAATCTCTAACTC	0.443													12	23					0	0	1	0	0	G	122259432	A	G	122259432	3	3	200	1	0	0	0	0	1	0	0	0	11466	101	4	3	876	3	PARP9	3	122259432	Missense_Mutation	SNP	A	TCGA-EL-A3T1-01A-11D-A22D-08	9161251	122259432	75762998	3	3537											
CORIN	10699	broad.mit.edu	37	chr4	47839953	47839953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctcttccggagcgagggcaGgagactgtttcatggataaa	14	8	2	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:47839953G>C	uc003gxm.3	-	0	107	c.14C>G	c.(13-15)cCt>cGt	p.P5R	CORIN_uc011bzg.2_Missense_Mutation_p.P5R|CORIN_uc011bzh.1_Missense_Mutation_p.P5R|CORIN_uc011bzi.1_Missense_Mutation_p.P5R|CORIN_uc003gxn.4_Missense_Mutation_p.P5R	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	5					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCGAGGGCAGGAGACTGTTT	0.557													13	161					0	0	1	0	0	C	47839953	G	C	47839953	3	2	200	1	0	0	0	0	1	0	0	0	3752	1000	35	4	3202	4	CORIN	4	47839953	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		47839953	143314323	4	3538											
DCUN1D4	23142	broad.mit.edu	37	chr4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaggaaaaatctggccccTttttccagtttttcaccaat	5	10	2	0			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:52777312T>C	uc011bzo.2	+	8	831	c.824T>C	c.(823-825)cTt>cCt	p.L275P	DCUN1D4_uc003gze.3_Missense_Mutation_p.L231P|DCUN1D4_uc003gzf.3_Intron|DCUN1D4_uc011bzn.2_Missense_Mutation_p.L171P|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Intron	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383													3	94					0	0	1	0	0	C	52777312	T	C	52777312	3	2	200	1	0	0	0	0	1	0	0	0	4316	1609	56	3	726	3	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-EL-A3T1-01A-11D-A22D-08	4937359	52777312	138376964	5	3539											
GPR98	84059	broad.mit.edu	37	chr5	90001231	90001231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaggagttccaccagccGgaatcgccctgcttgatgct	10	12	0	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr5:90001231G>A	uc003kju.3	+	36	8497	c.8401G>A	c.(8401-8403)Gga>Aga	p.G2801R	GPR98_uc003kjt.3_Missense_Mutation_p.G507R|GPR98_uc003kjv.3_Missense_Mutation_p.G401R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2801					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCACCAGCCGGAATCGCCCT	0.428													7	197					0	0	1	0	0	A	90001231	G	A	90001231	3	1	200	1	0	0	0	0	1	0	0	0	6721	1117	39	1	8547	1	GPR98	5	90001231	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		90001231	90914029	6	3540											
ZNF292	23036	broad.mit.edu	37	chr6	87964746	87964746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggagaagaagcatccattGtgtcttcaatagatgaacta	10	6	2	4			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:87964746G>T	uc003plm.4	+	7	1440	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCATCCATTGTGTCTTCAAT	0.378													20	42					0	0	1	0	0	T	87964746	G	T	87964746	3	4	200	1	0	0	0	0	1	0	0	0	17823	1377	48	4	1429	4	ZNF292	6	87964746	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		87964746	83150321	7	3541											
ROS1	6098	broad.mit.edu	37	chr6	117686282	117686282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttccccagtaggtataaGgagtgacagaaagattaaat	9	7	0	3			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:117686282G>T	uc003pxp.1	-	19	3258	c.3059C>A	c.(3058-3060)cCt>cAt	p.P1020H	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1020	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAGGTATAAGGAGTGACAGA	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								21	41					0	0	1	0	0	T	117686282	G	T	117686282	3	4	200	1	0	0	0	0	1	0	0	0	13531	1000	35	4	4080	4	ROS1	6	117686282	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	29721536	117686282	53428785	8	3542											
CUX1	1523	broad.mit.edu	37	chr7	101870709	101870709	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtccccgatgagttccagtGagtcggtgaagagcctgacc	13	11	0	5			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:101870709G>T	uc003uys.4	+	20	3353	c.3226G>T	c.(3226-3228)Gag>Tag	p.E1076*	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Nonsense_Mutation_p.E1065*	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1065					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGTTCCAGTGAGTCGGTGAA	0.597													33	205					0	0	1	0	0	T	101870709	G	T	101870709	4	4	200	1	0	0	0	0	0	1	0	0	4064	1291	45	4	3342	4	CUX1	7	101870709	Nonsense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		101870709	57267954	9	3543											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				40	63					0	0	1	0	0	T	140453136	A	T	140453136	3	4	200	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T1-01A-11D-A22D-08	38582427	140453136	18685527	10	3544											
ZNF510	22869	broad.mit.edu	37	chr9	99537117	99537117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaagagtgtggagaaccGtaaaggataacctgggggtg	16	5	0	3	rs148190358	by1000genomes	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:99537117G>A	uc004awn.1	-	2	271	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	ZNF510_uc004awo.1_Missense_Mutation_p.R28W	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGGAGAACCGTAAAGGATAA	0.458													3	70					0	0	1	0	0	A	99537117	G	A	99537117	3	1	200	1	0	0	0	0	1	0	0	0	17951	1144	40	1	1985	1	ZNF510	9	99537117	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		99537117	41676314	11	3545											
DNM1	1759	broad.mit.edu	37	chr9	130984562	130984562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattgagaaggaggtggaGgaatacaagaacttccgccc	12	9	0	2			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:130984562G>A	uc022bob.1	+	6	1023	c.936G>A	c.(934-936)gaG>gaA	p.E312E	DNM1_uc022bnx.1_Silent_p.E312E|DNM1_uc022bny.1_Silent_p.E312E|DNM1_uc022bnz.1_Silent_p.E312E|DNM1_uc022boa.1_Silent_p.E312E	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	312					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGGAGGTGGAGGAATACAAGA	0.612													3	80					0	0	1	0	0	A	130984562	G	A	130984562	2	1	200	1	0	0	0	0	0	0	0	1	4670	991	35	2		2	DNM1	9	130984562	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	31447445	130984562	10228869	12	3546											
GPRIN2	9721	broad.mit.edu	37	chr10	46999778	46999778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccacctttggggtcccGctgggttagtcccagagcct	13	14	0	1	rs147795605		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr10:46999778G>A	uc001jec.3	+	2	1033	c.898G>A	c.(898-900)Gct>Act	p.A300T	GPRIN2_uc021ppt.1_Missense_Mutation_p.A300T	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	300										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TTGGGGTCCCGCTGGGTTAGT	0.617													22	76					0	0	1	0	0	A	46999778	G	A	46999778	3	1	200	1	0	0	0	0	1	0	0	0	6730	1087	38	1	900	1	GPRIN2	10	46999778	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		46999778	88534969	13	3547											
RSPRY1	89970	broad.mit.edu	37	chr16	57238772	57238772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggccgagaacagtgcaGtacccactgctgacacaagg	11	12	0	2			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:57238772G>A	uc002elb.3	+	1	480	c.202G>A	c.(202-204)Gta>Ata	p.V68I	RSPRY1_uc002elc.3_Missense_Mutation_p.V68I|RSPRY1_uc002eld.3_Missense_Mutation_p.V68I|RSPRY1_uc002ele.1_Missense_Mutation_p.V68I	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	68						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAACAGTGCAGTACCCACTGC	0.547													5	112					0	0	1	0	0	A	57238772	G	A	57238772	3	1	200	1	0	0	0	0	1	0	0	0	13713	1029	36	2	204	2	RSPRY1	16	57238772	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		57238772	33115981	14	3548											
PLEKHG4	25894	broad.mit.edu	37	chr16	67316145	67316145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacagaggtcctgatgcaGcaggtgctagactcgccatg	13	11	0	4			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:67316145G>A	uc002eso.4	+	7	3681	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q	PLEKHG4_uc002esp.4_Silent_p.Q189Q|PLEKHG4_uc002esq.4_Silent_p.Q382Q|PLEKHG4_uc010cef.3_Silent_p.Q382Q|PLEKHG4_uc002ess.4_Silent_p.Q382Q|PLEKHG4_uc010ceg.3_Silent_p.Q301Q	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 1, mRNA.	382					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCCTGATGCAGCAGGTGCTAG	0.612													3	90					0	0	1	0	0	A	67316145	G	A	67316145	2	1	200	1	0	0	0	0	0	0	0	1	12071	962	34	2		2	PLEKHG4	16	67316145	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	10077373	67316145	23038608	15	3549											
ALOX12	239	broad.mit.edu	37	chr17	6902319	6902319	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaccctcctgagctcctGgaactgcctagaagactttg	8	13	0	3			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:6902319G>A	uc002gdx.4	+	4	643	c.590G>A	c.(589-591)tGg>tAg	p.W197*	LOC100506713_uc021tou.1_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	197	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTGAGCTCCTGGAACTGCCTA	0.552													4	152					0	0	1	0	0	A	6902319	G	A	6902319	4	1	200	1	0	0	0	0	0	1	0	0	536	1357	47	2	608	2	ALOX12	17	6902319	Nonsense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		6902319	74292891	16	3550											
RPL23	9349	broad.mit.edu	37	chr17	37009327	37009327	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	accggaagacccaaggaaatCcggaatttcgcaccagagga	11	11	0	2			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:37009327C>G	uc002hqx.1	-	1	135	c.45G>C	c.(43-45)cgG>cgC	p.R15R	RPL23_uc002hqy.1_Silent_p.R15R|SNORA21_uc002hqz.1_5'Flank	NM_000978	NP_000969	P62829	RL23_HUMAN	Homo sapiens ribosomal protein L23 (RPL23), mRNA.	15					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						CCAAGGAAATCCGGAATTTCG	0.478													9	38					0	0	1	0	0	G	37009327	C	G	37009327	2	3	200	1	0	0	0	0	0	0	0	1	13570	842	30	4		4	RPL23	17	37009327	Silent	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08	30107008	37009327	44185883	17	3551											
MUC16	94025	broad.mit.edu	37	chr19	9057556	9057556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtactctgtgctgtagcccCaggagaacttttttgggtgg	13	8	1	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:9057556C>T	uc002mkp.3	-	2	30094	c.29890G>A	c.(29890-29892)Ggg>Agg	p.G9964R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9966	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTAGCCCCAGGAGAACTT	0.483													15	305					0	0	1	0	0	T	9057556	C	T	9057556	3	4	200	1	0	0	0	0	1	0	0	0	9973	594	21	2	13961	2	MUC16	19	9057556	Missense_Mutation	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08		9057556	50071427	18	3552											
DYRK1B	9149	broad.mit.edu	37	chr19	40319135	40319135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacgccgcggaagtgggtGttgcgcaggaggtcgtacag	19	8	0	1			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:40319135G>A	uc002omj.3	-	5	889	c.609C>T	c.(607-609)aaC>aaT	p.N203N	DYRK1B_uc002omi.3_Silent_p.N203N|DYRK1B_uc002omk.3_Silent_p.N203N	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	203	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGAAGTGGGTGTTGCGCAGGA	0.612													3	30					0	0	1	0	0	A	40319135	G	A	40319135	2	1	200	1	0	0	0	0	0	0	0	1	4855	1368	48	2		2	DYRK1B	19	40319135	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	31261579	40319135	18809848	19	3553											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			69	90					0	0	1	0	0	C	115256529	T	C	115256529	3	2	201	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		115256529	133994092	1	3554											
THBS3	7059	broad.mit.edu	37	chr1	155168008	155168008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacacatcaccaacgccaTtgcctgggcagagtgaggct	10	14	1	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:155168008T>C	uc001fix.3	-	17	2183	c.2078A>G	c.(2077-2079)aAt>aGt	p.N693S	THBS3_uc021pat.1_Missense_Mutation_p.N90S|THBS3_uc010pfu.2_Missense_Mutation_p.N573S|THBS3_uc009wqi.3_Missense_Mutation_p.N684S|THBS3_uc001fiy.3_Missense_Mutation_p.N222S|THBS3_uc010pfv.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	693					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			ACCAACGCCATTGCCTGGGCA	0.537													37	72					0	0	1	0	0	C	155168008	T	C	155168008	3	2	201	1	0	0	0	0	1	0	0	0	15852	1493	52	3	816	3	THBS3	1	155168008	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08	39911479	155168008	94082613	2	3555											
UBR3	130507	broad.mit.edu	37	chr2	170843170	170843170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcagattctcctgagaatgAtattcctatggagatcacca	7	10	3	4			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr2:170843170A>T	uc010zdi.2	+	24	3650	c.3650A>T	c.(3649-3651)gAt>gTt	p.D1217V	UBR3_uc002ufr.4_Intron|UBR3_uc010fqa.3_Missense_Mutation_p.D38V|UBR3_uc002uft.4_Missense_Mutation_p.D70V	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1217					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CCTGAGAATGATATTCCTATG	0.418													5	54					0	0	1	0	0	T	170843170	A	T	170843170	3	4	201	1	0	0	0	0	1	0	0	0	16900	333	12	5	3748	5	UBR3	2	170843170	Missense_Mutation	SNP	A	TCGA-EL-A3T2-01A-11D-A22D-08		170843170	72356203	3	3556											
MAGI1	9223	broad.mit.edu	37	chr3	65365210	65365210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggctggcgagggcacCtcgttctcggttttgggcac	17	10	1	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:65365210C>T	uc003dmn.3	-	16	3247	c.2721G>A	c.(2719-2721)gaG>gaA	p.E907E	MAGI1_uc003dmm.3_Silent_p.E935E|MAGI1_uc003dmo.3_Silent_p.E935E|MAGI1_uc003dmp.3_Silent_p.E907E|MAGI1_uc003dmq.1_Non-coding_Transcript|MAGI1_uc010hnx.1_Silent_p.E218E	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	935					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCGAGGGCACCTCGTTCTCGG	0.622													79	141					0	0	1	0	0	T	65365210	C	T	65365210	2	4	201	1	0	0	0	0	0	0	0	1	9190	680	24	2		2	MAGI1	3	65365210	Silent	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08		65365210	132657220	4	3557											
MGLL	11343	broad.mit.edu	37	chr3	127454586	127454586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacgtgctcgctccccGccttctcccattccctccct	5	23	1	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:127454586G>A	uc003ejv.3	-	0	615	c.116C>T	c.(115-117)gCg>gTg	p.A39V	MGLL_uc003ejw.3_Intron|MGLL_uc011bko.2_Intron|MGLL_uc003ejx.3_Intron|MGLL_uc010hsp.1_Intron	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	0					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CTCGCTCCCCGCCTTCTCCCA	0.488													4	172					0	0	1	0	0	A	127454586	G	A	127454586	3	1	201	1	0	0	0	0	1	0	0	0	9556	1102	38	1		1	MGLL	3	127454586	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	62089376	127454586	70567844	5	3558											
NIPBL	25836	broad.mit.edu	37	chr5	37001181	37001181	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggattttactgcgtttgGtaaaatcaacttaaaataca	6	5	1	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr5:37001181G>A	uc003jkl.4	+	14	4163	c.3664_splice	c.e14+1	p.G1222_splice	NIPBL_uc003jkk.4_Splice_Site_p.G1222_splice	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1222					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTGCGTTTGGTAAAATCAAC	0.333													33	45					0	0	1	0	0	A	37001181	G	A	37001181	5	1	201	1	0	0	0	0	0	0	1	0	10428	1275	44	2	3715	2	NIPBL	5	37001181	Splice_Site	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		37001181	143914079	6	3559											
DNAH8	1769	broad.mit.edu	37	chr6	38854566	38854566	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tattgctgtgtgaaatttcaGataactaatgagattgtgcg	10	4	1	3			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr6:38854566G>C	uc021yzh.1	+	57	8369	c.8260_splice	c.e57-1	p.I2754_splice	DNAH8_uc003ooe.2_Splice_Site_p.I2537_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAAATTTCAGATAACTAATG	0.338													7	90					0	0	1	0	0	C	38854566	G	C	38854566	5	2	201	1	0	0	0	0	0	0	1	0	4607	956	33	4	7818	4	DNAH8	6	38854566	Splice_Site	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		38854566	132260501	7	3560											
NFE2L3	9603	broad.mit.edu	37	chr7	26224962	26224962	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaaagctttgcatatcccTttttctgtagatgaaattgt	7	7	1	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr7:26224962T>C	uc003sxq.3	+	3	1916	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	548					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.I547F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGCATATCCCTTTTTCTGTAG	0.418													4	79					0	0	1	0	0	C	26224962	T	C	26224962	2	2	201	1	0	0	0	0	0	0	0	1	10369	1596	56	3		3	NFE2L3	7	26224962	Silent	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		26224962	132913701	8	3561											
OR6V1	346517	broad.mit.edu	37	chr7	142750057	142750057	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgacctttgtcctcaGctccttcctggtgaccctca	8	16	2	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr7:142750057G>C	uc011ksv.2	+	0	620	c.620G>C	c.(619-621)aGc>aCc	p.S207T		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTGTCCTCAGCTCCTTCCTG	0.542													4	203					0	0	1	0	0	C	142750057	G	C	142750057	3	2	201	1	0	0	0	0	1	0	0	0	11211	971	34	4	622	4	OR6V1	7	142750057	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	116525095	142750057	16388606	9	3562											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187086	38187086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctattttaacaggcGgtggctcttcctcttccgca	9	13	2	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr8:38187086G>A	uc003xli.3	-	5	1909	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	WHSC1L1_uc011lbm.2_Missense_Mutation_p.P464L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.P464L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.P464L	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	464					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTTAACAGGCGGTGGCTCTTC	0.517			T	NUP98	AML								34	45					0	0	1	0	0	A	38187086	G	A	38187086	3	1	201	1	0	0	0	0	1	0	0	0	17360	1116	39	1	3085	1	WHSC1L1	8	38187086	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		38187086	108176936	10	3563											
FCN2	2220	broad.mit.edu	37	chr9	137779025	137779025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacaggagattccctgAcgttccacaacaaccagtcc	7	16	0	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr9:137779025A>G	uc004cfg.1	+	7	716	c.706A>G	c.(706-708)Acg>Gcg	p.T236A	FCN2_uc004cfh.1_Missense_Mutation_p.T198A	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	236	Fibrinogen C-terminal.		T -> M (in dbSNP:rs17549193).		complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGATTCCCTGACGTTCCACAA	0.468													8	113					0	0	1	0	0	G	137779025	A	G	137779025	3	3	201	1	0	0	0	0	1	0	0	0	5792	275	10	3	736	3	FCN2	9	137779025	Missense_Mutation	SNP	A	TCGA-EL-A3T2-01A-11D-A22D-08		137779025	3434406	11	3564											
SBF2	81846	broad.mit.edu	37	chr11	10064433	10064433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaggttaggcatgagcaGtaatgtcgatctgagtcaat	12	5	2	3			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr11:10064433G>A	uc001mib.2	-	2	375	c.237C>T	c.(235-237)taC>taT	p.Y79Y	SBF2_uc001mif.3_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	79	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCATGAGCAGTAATGTCGAT	0.443													3	138					0	0	1	0	0	A	10064433	G	A	10064433	2	1	201	1	0	0	0	0	0	0	0	1	13859	1024	36	2		2	SBF2	11	10064433	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		10064433	124942083	12	3565											
ZNF259	8882	broad.mit.edu	37	chr11	116656238	116656238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtccacttacttgaagccCcagcatctcttcctgctgtc	6	16	1	1			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr11:116656238C>A	uc001ppp.3	-	5	730	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	233					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		ACTTGAAGCCCCAGCATCTCT	0.502													4	122					0	0	1	0	0	A	116656238	C	A	116656238	3	1	201	1	0	0	0	0	1	0	0	0	17798	623	22	4	718	4	ZNF259	11	116656238	Missense_Mutation	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08	106591805	116656238	18350278	13	3566											
DENND5B	160518	broad.mit.edu	37	chr12	31600669	31600669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcgtgaaagaaatggcAggtaaggctcaggctggtca	15	6	2	3			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr12:31600669A>G	uc001rkh.1	-	7	1920	c.1769T>C	c.(1768-1770)cTg>cCg	p.L590P	DENND5B_uc001rki.1_Missense_Mutation_p.L555P|DENND5B_uc001rkj.3_Missense_Mutation_p.L577P	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	555						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGAAATGGCAGGTAAGGCTC	0.403													2	13					0	0	1	0	0	G	31600669	A	G	31600669	3	3	201	1	0	0	0	0	1	0	0	0	4437	188	7	3	2224	3	DENND5B	12	31600669	Missense_Mutation	SNP	A	TCGA-EL-A3T2-01A-11D-A22D-08		31600669	102251226	14	3567											
KDM2B	84678	broad.mit.edu	37	chr12	121877692	121877692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcggttaaggagtctcggGtggtggtgccaacagcagtg	16	8	2	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr12:121877692G>T	uc001uat.3	-	21	3901	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	KDM2B_uc010szy.2_Missense_Mutation_p.T706N|KDM2B_uc001uaq.3_Missense_Mutation_p.T706N|KDM2B_uc001uar.3_Missense_Mutation_p.T857N|KDM2B_uc001uas.3_Missense_Mutation_p.T1197N|KDM2B_uc021rfd.1_Missense_Mutation_p.T1197N|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.T1266N|KDM2B_uc001uao.3_Missense_Mutation_p.T514N|KDM2B_uc010szx.2_Missense_Mutation_p.T514N|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1266					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGAGTCTCGGGTGGTGGTGCC	0.572													15	50					0	0	1	0	0	T	121877692	G	T	121877692	3	4	201	1	0	0	0	0	1	0	0	0	8125	1261	44	4	273	4	KDM2B	12	121877692	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	90277023	121877692	11974203	15	3568											
MYH6	4624	broad.mit.edu	37	chr14	23858160	23858160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttggccttggacaggacGcgctgcagctcggccttggc	16	12	0	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:23858160G>A	uc001wjv.3	-	28	4154	c.4083C>T	c.(4081-4083)cgC>cgT	p.R1361R	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1361					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R1361R(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGACAGGACGCGCTGCAGCT	0.647													4	88					0	0	1	0	0	A	23858160	G	A	23858160	2	1	201	1	0	0	0	0	0	0	0	1	10038	1074	38	1		1	MYH6	14	23858160	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		23858160	83491380	16	3569											
HSPA2	3306	broad.mit.edu	37	chr14	65008100	65008100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatcatcaacgagcccaCggcggcggccatcgcctacg	12	17	2	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:65008100C>A	uc001xhj.3	+	1	609	c.533C>A	c.(532-534)aCg>aAg	p.T178K	HSPA2_uc001xhk.4_Missense_Mutation_p.T178K	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	178					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AACGAGCCCACGGCGGCGGCC	0.642													3	84					0	0	1	0	0	A	65008100	C	A	65008100	3	1	201	1	0	0	0	0	1	0	0	0	7411	536	19	4	535	4	HSPA2	14	65008100	Missense_Mutation	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08	41149940	65008100	42341440	17	3570											
FLVCR2	55640	broad.mit.edu	37	chr14	76101253	76101253	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggggttatggtttccccagGgggaagaagtgaatgctgga	17	5	0	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:76101253G>C	uc001xrs.2	+	5	1397	c.1021_splice	c.e5-1	p.G341_splice	FLVCR2_uc010tvd.1_Splice_Site_p.G136_splice	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	341					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTTTCCCCAGGGGGAAGAAGT	0.527													3	25					0	0	1	0	0	C	76101253	G	C	76101253	5	2	201	1	0	0	0	0	0	0	1	0	5946	1246	43	4	1039	4	FLVCR2	14	76101253	Splice_Site	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	11093153	76101253	31248287	18	3571											
TSR1	55720	broad.mit.edu	37	chr17	2238870	2238870	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagcagcataaagttctggGtgtttcccaattcattcaag	8	9	3	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr17:2238870G>C	uc002fuj.3	-	2	1313	c.356C>G	c.(355-357)aCc>aGc	p.T119S	SGSM2_uc002fum.4_5'Flank|SGSM2_uc002fun.4_5'Flank|SGSM2_uc010vqw.2_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.	119					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AAAGTTCTGGGTGTTTCCCAA	0.483													3	115					0	0	1	0	0	C	2238870	G	C	2238870	3	2	201	1	0	0	0	0	1	0	0	0	16661	1261	44	4	2110	4	TSR1	17	2238870	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		2238870	78956340	19	3572											
TMX3	54495	broad.mit.edu	37	chr18	66367682	66367682	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaataatatcatcttttgTtcgtggtcctctataattat	4	8	4	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr18:66367682T>C	uc002lkf.3	-	5	487	c.352A>G	c.(352-354)Aca>Gca	p.T118A	TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Intron|TMX3_uc002lkg.4_Missense_Mutation_p.T118A	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	118	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TCATCTTTTGTTCGTGGTCCT	0.254													10	105					0	0	1	0	0	C	66367682	T	C	66367682	3	2	201	1	0	0	0	0	1	0	0	0	16265	1725	60	3	1056	3	TMX3	18	66367682	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		66367682	11709566	20	3573											
REXO1	57455	broad.mit.edu	37	chr19	1828209	1828209	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcaccgccacccccTccacctctgccctgacccct	6	24	1	1			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr19:1828209T>C	uc002lua.4	-	1	674	c.579A>G	c.(577-579)ggA>ggG	p.G193G	REXO1_uc010dsr.1_Silent_p.G147G	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	193	Poly-Gly.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCACCCCCTCCACCTCTGC	0.706													2	21					0	0	1	0	0	C	1828209	T	C	1828209	2	2	201	1	0	0	0	0	0	0	0	1	13241	1538	54	3		3	REXO1	19	1828209	Silent	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		1828209	57300774	21	3574											
NANOS2	339345	broad.mit.edu	37	chr19	46417736	46417736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaggagtagacgtggcgGgactccccgttgtgcttgca	16	9	0	2			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr19:46417736G>A	uc002pdu.3	-	0	301	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA.	72					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGACGTGGCGGGACTCCCCGT	0.692													3	82					0	0	1	0	0	A	46417736	G	A	46417736	2	1	201	1	0	0	0	0	0	0	0	1	10152	1219	43	2		2	NANOS2	19	46417736	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	44589527	46417736	12711247	22	3575											
KRTAP8-1	337879	broad.mit.edu	37	chr21	32185391	32185391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgtagccgaaagcccCacagccgttgtagccatagc	9	15	1	0			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr21:32185391C>T	uc002you.3	-	0	180	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_175857	NP_787053	Q8IUC2	KRA81_HUMAN	Homo sapiens keratin associated protein 8-1 (KRTAP8-1), mRNA.	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament		p.G50V(2)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						CCGAAAGCCCCACAGCCGTTG	0.567													8	160					0	0	1	0	0	T	32185391	C	T	32185391	3	4	201	1	0	0	0	0	1	0	0	0	8572	594	21	2	47	2	KRTAP8-1	21	32185391	Missense_Mutation	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08		32185391	15944504	23	3576											
MYO18B	84700	broad.mit.edu	37	chr22	26219630	26219630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgatggggcctcgaggatGaggaaaccagctcaggtaca	15	10	1	1			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr22:26219630G>A	uc003abz.1	+	12	2930	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	MYO18B_uc003aca.1_Missense_Mutation_p.E775K|MYO18B_uc010guy.1_Missense_Mutation_p.E775K|MYO18B_uc010guz.1_Missense_Mutation_p.E775K|MYO18B_uc011aka.1_Missense_Mutation_p.E48K|MYO18B_uc011akb.1_Missense_Mutation_p.E407K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	894	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCGAGGATGAGGAAACCAG	0.562													4	135					0	0	1	0	0	A	26219630	G	A	26219630	3	1	201	1	0	0	0	0	1	0	0	0	10066	1291	45	2	2726	2	MYO18B	22	26219630	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		26219630	25084936	24	3577											
ZFX	7543	broad.mit.edu	37	chrX	24228800	24228800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccatactggggagaagccGtaccaatgccagtactgcga	11	11	0	1			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:24228800G>A	uc011mjv.2	+	9	2091	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	ZFX_uc004dbd.2_Silent_p.P575P|ZFX_uc004dbf.3_Silent_p.P575P|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Silent_p.P575P|ZFX_uc010nfx.2_Silent_p.P346P|ZFX_uc010nfz.3_Silent_p.P231P	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGGAGAAGCCGTACCAATGCC	0.438													3	101					0	0	1	0	0	A	24228800	G	A	24228800	2	1	201	1	0	0	0	0	0	0	0	1	17658	1132	40	1		1	ZFX	23	24228800	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		24228800	131041760	25	3578											
STAG2	10735	broad.mit.edu	37	chrX	123211862	123211862	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtaaaacaaggcagaTagacaaaattcagtgtgcta	9	5	1	3			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:123211862T>G	uc004eua.3	+	26	3133	c.2729T>G	c.(2728-2730)aTa>aGa	p.I910R	STAG2_uc004etz.4_Missense_Mutation_p.I910R|STAG2_uc004eub.3_Missense_Mutation_p.I910R|STAG2_uc004euc.3_Missense_Mutation_p.I910R|STAG2_uc004eud.3_Missense_Mutation_p.I910R|STAG2_uc004eue.3_Missense_Mutation_p.I910R	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	910					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ACAAGGCAGATAGACAAAATT	0.313													38	96					0	0	1	0	0	G	123211862	T	G	123211862	3	3	201	1	0	0	0	0	1	0	0	0	15242	1406	49	5	2827	5	STAG2	23	123211862	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08	98983062	123211862	32058698	26	3579											
C1QA	712	broad.mit.edu	37	chr1	22965567	22965567	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacgtggtcatcttcgacacGgtcatcaccaaccaggaaga	9	12	4	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:22965567G>C	uc001bfy.3	+	2	490	c.405G>C	c.(403-405)acG>acC	p.T135T		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	135	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTTCGACACGGTCATCACCA	0.602													3	67					0	0	1	0	0	C	22965567	G	C	22965567	2	2	202	1	0	0	0	0	0	0	0	1	1954	1103	39	4		4	C1QA	1	22965567	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		22965567	226285054	1	3580											
RBBP4	5928	broad.mit.edu	37	chr1	33123032	33123032	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatattgccgttacagaccaGaagggaaagatttcagcatt	9	7	1	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:33123032G>A	uc001bvr.3	+	2	328	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	RBBP4_uc001bvs.3_Missense_Mutation_p.E56K|RBBP4_uc010ohj.2_Intron|RBBP4_uc010ohk.2_Missense_Mutation_p.E22K	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	57					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTACAGACCAGAAGGGAAAGA	0.413													6	107					0	0	1	0	0	A	33123032	G	A	33123032	3	1	202	1	0	0	0	0	1	0	0	0	13101	943	33	2	179	2	RBBP4	1	33123032	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	10157465	33123032	216127589	2	3581											
ZMYM4	9202	broad.mit.edu	37	chr1	35870639	35870639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagggacggaagaagtctAtagtggctgtggagcccagg	16	7	1	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:35870639A>G	uc001byt.3	+	23	3624	c.3544A>G	c.(3544-3546)Ata>Gta	p.I1182V	ZMYM4_uc009vuu.3_Missense_Mutation_p.I1150V|ZMYM4_uc001byu.3_Missense_Mutation_p.I858V|ZMYM4_uc009vuv.3_Missense_Mutation_p.I921V	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1182					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGAAGTCTATAGTGGCTGT	0.413													7	112					0	0	1	0	0	G	35870639	A	G	35870639	3	3	202	1	0	0	0	0	1	0	0	0	17699	449	16	3	3638	3	ZMYM4	1	35870639	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08	2747607	35870639	213379982	3	3582											
LIPT1	51601	broad.mit.edu	37	chr2	99778836	99778836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aattgtgagagctctgaatgCtgtccaaccccagctggatg	11	10	1	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:99778836C>G	uc002szp.4	+	2	577	c.539C>G	c.(538-540)gCt>gGt	p.A180G	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.A139G|LIPT1_uc002szn.4_Missense_Mutation_p.A139G|LIPT1_uc002szo.4_Missense_Mutation_p.A139G|LIPT1_uc002szq.4_Missense_Mutation_p.A139G|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.A139G|LIPT1_uc021vlo.1_Missense_Mutation_p.A139G|LIPT1_uc021vlp.1_Missense_Mutation_p.A139G	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	139					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GCTCTGAATGCTGTCCAACCC	0.383													5	76					0	0	1	0	0	G	99778836	C	G	99778836	3	3	202	1	0	0	0	0	1	0	0	0	8829	797	28	4	418	4	LIPT1	2	99778836	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		99778836	143420537	4	3583											
DDX18	8886	broad.mit.edu	37	chr2	118583110	118583110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgtgtacggatgtggcaGcgagaggactagacattcct	13	7	0	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:118583110G>A	uc002tlh.1	+	9	1555	c.1456G>A	c.(1456-1458)Gcg>Acg	p.A486T		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	486	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGTGGCAGCGAGAGGACT	0.433													3	131					0	0	1	0	0	A	118583110	G	A	118583110	3	1	202	1	0	0	0	0	1	0	0	0	4345	971	34	2	1494	2	DDX18	2	118583110	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	18804274	118583110	124616263	5	3584											
ABI2	10152	broad.mit.edu	37	chr2	204259430	204259430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctttttgtaggcggcacTccccctatcgcacactggag	9	14	1	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:204259430T>C	uc002vaa.3	+	5	821	c.586T>C	c.(586-588)Tcc>Ccc	p.S196P	ABI2_uc010zig.1_Intron|ABI2_uc010zij.2_Missense_Mutation_p.S134P|ABI2_uc002uzz.3_Missense_Mutation_p.S190P|ABI2_uc010zih.2_Intron|ABI2_uc010zii.2_Missense_Mutation_p.S190P|ABI2_uc002vab.3_Missense_Mutation_p.S145P|ABI2_uc010zik.2_Intron|ABI2_uc010zil.2_Missense_Mutation_p.S31P|ABI2_uc010zim.2_Intron|ABI2_uc002vac.3_Intron|ABI2_uc010zin.2_5'UTR	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	Homo sapiens abl-interactor 2 (ABI2), mRNA.	196	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	DNA binding|SH3 domain binding|cytoskeletal adaptor activity|kinase binding|proline-rich region binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TAGGCGGCACTCCCCCTATCG	0.473													3	190					0	0	1	0	0	C	204259430	T	C	204259430	3	2	202	1	0	0	0	0	1	0	0	0	89	1551	54	3	586	3	ABI2	2	204259430	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	85676320	204259430	38939943	6	3585											
SCN5A	6331	broad.mit.edu	37	chr3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtggctctagtgacactgtCataggagggtgggaaggaag	18	5	2	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:38591931C>G	uc021wvo.1	-	26	5984	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602													3	74					0	0	1	0	0	G	38591931	C	G	38591931	3	3	202	1	0	0	0	0	1	0	0	0	13922	826	29	4	122	4	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		38591931	159430499	7	3586											
ERC2	26059	broad.mit.edu	37	chr3	56468821	56468821	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccctttgggtaggttgttGaagccaccccttcatgatca	10	11	2	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:56468821G>A	uc021wzo.1	-	0	355	c.215C>T	c.(214-216)tCa>tTa	p.S72L	ERC2_uc003dhr.1_Missense_Mutation_p.S72L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	72						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTAGGTTGTTGAAGCCACCCC	0.507													4	215					0	0	1	0	0	A	56468821	G	A	56468821	3	1	202	1	0	0	0	0	1	0	0	0	5211	1294	45	2	2712	2	ERC2	3	56468821	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	17876890	56468821	141553609	8	3587											
IFT122	55764	broad.mit.edu	37	chr3	129207071	129207071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggctctgaaaacagtctTctttttttcccttgatgaaa	6	9	3	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:129207071T>C	uc003ems.3	+	0	38	c.20T>C	c.(19-21)tTc>tCc	p.F7S	IFT122_uc003eml.3_Intron|IFT122_uc003emm.3_Intron|IFT122_uc003emn.3_Intron|IFT122_uc003emo.3_Intron|IFT122_uc003emp.3_Intron|IFT122_uc010htc.3_Intron|IFT122_uc011bky.2_Intron|IFT122_uc011bla.2_Intron|IFT122_uc003emr.3_Intron|IFT122_uc010hte.3_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron|IFT122_uc010htd.1_Intron	NM_052990	NP_443716	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 4, mRNA.	608			W -> C (in CED1).		camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAAACAGTCTTCTTTTTTTCC	0.522													28	23					0	0	1	0	0	C	129207071	T	C	129207071	3	2	202	1	0	0	0	0	1	0	0	0	7555	1798	62	3		3	IFT122	3	129207071	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	72738250	129207071	68815359	9	3588											
GPR78	27201	broad.mit.edu	37	chr4	8588779	8588779	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgctccgcttccccaacAggctggcggagctcgtgccc	12	17	0	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr4:8588779A>T	uc003glk.3	+	3	1276	c.783_splice	c.e3-2	p.R261_splice	GPR78_uc021xlj.1_Splice_Site|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	261					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTTCCCCAACAGGCTGGCGGA	0.627													34	63					0	0	1	0	0	T	8588779	A	T	8588779	5	4	202	1	0	0	0	0	0	0	1	0	6710	202	7	5	791	5	GPR78	4	8588779	Splice_Site	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08		8588779	182565497	10	3589											
EGFLAM	133584	broad.mit.edu	37	chr5	38352357	38352357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcattgtggtttcggattctGaggtggccctgtcttggaaa	13	7	3	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr5:38352357G>A	uc003jlc.2	+	4	815	c.469G>A	c.(469-471)Gag>Aag	p.E157K	EGFLAM_uc003jlb.2_Missense_Mutation_p.E157K	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	157	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.E157D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTCGGATTCTGAGGTGGCCCT	0.507													18	188					0	0	1	0	0	A	38352357	G	A	38352357	3	1	202	1	0	0	0	0	1	0	0	0	4966	1291	45	2	487	2	EGFLAM	5	38352357	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		38352357	142562903	11	3590											
DOCK2	1794	broad.mit.edu	37	chr5	169494626	169494626	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccctccccatcaacccacTctccatgctcctgaacggga	6	19	2	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr5:169494626T>A	uc003maf.3	+	44	4660	c.4580T>A	c.(4579-4581)cTc>cAc	p.L1527H	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.L1019H|DOCK2_uc003mah.3_Missense_Mutation_p.L83H	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1527	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.L1527H(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCAACCCACTCTCCATGCTC	0.522													4	127					0	0	1	0	0	A	169494626	T	A	169494626	3	1	202	1	0	0	0	0	1	0	0	0	4687	1551	54	5	4758	5	DOCK2	5	169494626	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	131142269	169494626	11420634	12	3591											
IRF4	3662	broad.mit.edu	37	chr6	407546	407546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatttaccagaacacatcaGcaatccagaagattaccaca	5	12	1	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr6:407546G>A	uc003msz.4	+	8	1430	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	IRF4_uc003mtb.4_Missense_Mutation_p.S434N|IRF4_uc021ykl.1_Missense_Mutation_p.S281N|IRF4_uc003mta.4_Non-coding_Transcript	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	435					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAACACATCAGCAATCCAGAA	0.353			T	IGH@	MM								3	67					0	0	1	0	0	A	407546	G	A	407546	3	1	202	1	0	0	0	0	1	0	0	0	7832	971	34	2	1334	2	IRF4	6	407546	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		407546	170707521	13	3592											
MLLT4	4301	broad.mit.edu	37	chr6	168352394	168352394	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttgggccagatgcgcactCagtccttaaaccctgctccg	10	14	1	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr6:168352394C>G	uc021zik.1	+	28	4535	c.4216C>G	c.(4216-4218)Cag>Gag	p.Q1406E	MLLT4_uc003qwb.1_Missense_Mutation_p.Q1431E|MLLT4_uc003qwc.2_Missense_Mutation_p.Q1447E|MLLT4_uc021zij.1_Missense_Mutation_p.Q1430E|MLLT4_uc021zim.1_Missense_Mutation_p.Q993E|MLLT4_uc003qwg.1_Missense_Mutation_p.Q756E	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1447					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGCGCACTCAGTCCTTAAA	0.577			T	MLL	AL								17	263					0	0	1	0	0	G	168352394	C	G	168352394	3	3	202	1	0	0	0	0	1	0	0	0	9629	827	29	4	4453	4	MLLT4	6	168352394	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	167944848	168352394	2762673	14	3593											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	45					0	0	1	0	0	T	140453136	A	T	140453136	3	4	202	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08		140453136	18685527	15	3594											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	16	10	1	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr8:12957624C>G	uc003wwm.2	-	8	2666	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													3	98					0	0	1	0	0	G	12957624	C	G	12957624	3	3	202	1	0	0	0	0	1	0	0	0	4550	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		12957624	133406398	16	3595											
TBC1D2	55357	broad.mit.edu	37	chr9	101017574	101017574	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagggattggcatcctgagCggtccgcgagtaatacagct	13	10	0	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr9:101017574C>G	uc011lvb.2	-	0	430	c.250G>C	c.(250-252)Gct>Cct	p.A84P	TBC1D2_uc004ayq.3_Missense_Mutation_p.A84P|TBC1D2_uc004ayr.3_5'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	84	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCATCCTGAGCGGTCCGCGAG	0.542													7	97					0	0	1	0	0	G	101017574	C	G	101017574	3	3	202	1	0	0	0	0	1	0	0	0	15605	768	27	4	2555	4	TBC1D2	9	101017574	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		101017574	40195857	17	3596											
DPP7	29952	broad.mit.edu	37	chr9	140006389	140006389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccccaggtgtccaggcaGtaccgctggcggagctcgtc	14	15	0	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr9:140006389G>A	uc004clh.3	-	9	1173	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	381						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TGTCCAGGCAGTACCGCTGGC	0.657													3	78					0	0	1	0	0	A	140006389	G	A	140006389	2	1	202	1	0	0	0	0	0	0	0	1	4731	1024	36	2		2	DPP7	9	140006389	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	38988815	140006389	1207042	18	3597											
GPAM	57678	broad.mit.edu	37	chr10	113920471	113920471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaaaaactcatcgttcctGctagtgtgggtgattgtgac	10	7	1	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr10:113920471G>A	uc009xxy.2	-	15	1860	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	GPAM_uc001kzp.3_Silent_p.S550S|GPAM_uc001kzq.1_Silent_p.S550S	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	550					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CATCGTTCCTGCTAGTGTGGG	0.458													38	51					0	0	1	0	0	A	113920471	G	A	113920471	2	1	202	1	0	0	0	0	0	0	0	1	6588	1310	46	2		2	GPAM	10	113920471	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		113920471	21614276	19	3598											
C10orf90	118611	broad.mit.edu	37	chr10	128193188	128193188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggagaactctgtgcagGcaaaagatctctgatgccga	11	9	3	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr10:128193188G>A	uc010qum.2	-	3	902	c.872C>T	c.(871-873)gCc>gTc	p.A291V	C10orf90_uc001ljp.3_Missense_Mutation_p.A147V|C10orf90_uc001ljq.3_Missense_Mutation_p.A194V|C10orf90_uc009yao.2_Missense_Mutation_p.A291V|C10orf90_uc001ljs.1_Missense_Mutation_p.A147V	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	194										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGTGCAGGCAAAAGATCT	0.612											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	153					0	0	1	0	0	A	128193188	G	A	128193188	3	1	202	1	0	0	0	0	1	0	0	0	1623	1203	42	2	1546	2	C10orf90	10	128193188	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	14272717	128193188	7341559	20	3599											
ZBTB3	79842	broad.mit.edu	37	chr11	62520401	62520401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacatcaagagatggcaGtggctccaatgaaactgctg	10	11	1	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:62520401G>A	uc001nuz.3	-	1	1008	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	296	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGAGATGGCAGTGGCTCCAAT	0.542													3	88					0	0	1	0	0	A	62520401	G	A	62520401	2	1	202	1	0	0	0	0	0	0	0	1	17531	1020	36	2		2	ZBTB3	11	62520401	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		62520401	72486115	21	3600											
UBASH3B	84959	broad.mit.edu	37	chr11	122659906	122659906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaatggagcagaccagCaccagcgagggttggatcta	12	11	2	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:122659906C>T	uc001pyi.4	+	5	1230	c.870C>T	c.(868-870)agC>agT	p.S290S		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	290	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCAGACCAGCACCAGCGAGG	0.532													6	437					0	0	1	0	0	T	122659906	C	T	122659906	2	4	202	1	0	0	0	0	0	0	0	1	16837	709	25	2		2	UBASH3B	11	122659906	Silent	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	60139505	122659906	12346610	22	3601											
TMEM225	338661	broad.mit.edu	37	chr11	123753862	123753862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcacagagcccaggttaCgtgacgtgtttggacttttt	10	8	1	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:123753862C>T	uc001pzi.3	-	3	869	c.661G>A	c.(661-663)Gta>Ata	p.V221I		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	221						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GCCCAGGTTACGTGACGTGTT	0.423													35	63					0	0	1	0	0	T	123753862	C	T	123753862	3	4	202	1	0	0	0	0	1	0	0	0	16144	536	19	1	20	1	TMEM225	11	123753862	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	1093956	123753862	11252654	23	3602											
CD163	9332	broad.mit.edu	37	chr12	7640590	7640590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcttccagagagaagtccGaatcacagatggagccccac	10	13	1	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr12:7640590G>A	uc001qsz.3	-	6	1642	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	CD163_uc001qta.3_Missense_Mutation_p.S505L|CD163_uc009zfw.2_Missense_Mutation_p.S505L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	505	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.S505*(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGAGAAGTCCGAATCACAGAT	0.537													3	80					0	0	1	0	0	A	7640590	G	A	7640590	3	1	202	1	0	0	0	0	1	0	0	0	2967	1059	37	1	1996	1	CD163	12	7640590	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		7640590	126211305	24	3603											
LATS2	26524	broad.mit.edu	37	chr13	21562776	21562776	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctccaggcccggcttctgCagggagtcccggcgggccag	16	16	1	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr13:21562776C>A	uc009zzs.3	-	3	1508	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L	LATS2_uc001unr.4_Silent_p.L381L	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	381					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCGGCTTCTGCAGGGAGTCCC	0.701													3	39					0	0	1	0	0	A	21562776	C	A	21562776	2	1	202	1	0	0	0	0	0	0	0	1	8647	697	25	4		4	LATS2	13	21562776	Silent	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		21562776	93607102	25	3604											
FAM70B	348013	broad.mit.edu	37	chr13	114469169	114469169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctcatagtcaccgtcgGgctggctgccaccaccagga	11	16	2	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr13:114469169G>A	uc001vuh.3	+	1	155	c.128G>A	c.(127-129)gGg>gAg	p.G43E	FAM70B_uc010tkh.2_Missense_Mutation_p.G43E	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	43						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GTCACCGTCGGGCTGGCTGCC	0.652													68	85					0	0	1	0	0	A	114469169	G	A	114469169	3	1	202	1	0	0	0	0	1	0	0	0	5606	1232	43	2	134	2	FAM70B	13	114469169	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	92906393	114469169	700709	26	3605											
RASGRP1	10125	broad.mit.edu	37	chr15	38810529	38810529	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcggcaatgtaactccTcacccttagctttcaccagt	7	14	3	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr15:38810529T>G	uc001zke.4	-	4	663	c.485A>C	c.(484-486)gAg>gCg	p.E162A	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.E24A|RASGRP1_uc010bbg.3_Missense_Mutation_p.E24A|RASGRP1_uc001zkd.4_Missense_Mutation_p.E162A	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	162	N-terminal Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ATGTAACTCCTCACCCTTAGC	0.443													17	13					0	0	1	0	0	G	38810529	T	G	38810529	3	3	202	1	0	0	0	0	1	0	0	0	13074	1551	54	5	1960	5	RASGRP1	15	38810529	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08		38810529	63720863	27	3606											
C15orf27	123591	broad.mit.edu	37	chr15	76467946	76467946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagatggttatccagcaGtacgagaaggccaaggtcat	13	7	1	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr15:76467946G>A	uc002bbq.3	+	7	854	c.699G>A	c.(697-699)caG>caA	p.Q233Q	C15orf27_uc010bkp.3_Silent_p.Q49Q|C15orf27_uc002bbr.3_Silent_p.Q49Q	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	233						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTATCCAGCAGTACGAGAAGG	0.552													3	102					0	0	1	0	0	A	76467946	G	A	76467946	2	1	202	1	0	0	0	0	0	0	0	1	1788	1020	36	2		2	C15orf27	15	76467946	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	37657417	76467946	26063446	28	3607											
ITGAL	3683	broad.mit.edu	37	chr16	30507512	30507512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgacagacatcaacgGcgatgggctggtagacgtgg	15	9	2	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr16:30507512G>A	uc002dyi.4	+	13	1774	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	ITGAL_uc002dyj.4_Missense_Mutation_p.G450D|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	533					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.N532K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GACATCAACGGCGATGGGCTG	0.617													6	243					0	0	1	0	0	A	30507512	G	A	30507512	3	1	202	1	0	0	0	0	1	0	0	0	7886	1203	42	2	1652	2	ITGAL	16	30507512	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		30507512	59847241	29	3608											
ERBB2	2064	broad.mit.edu	37	chr17	37882044	37882044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccctgacctgctggaaaAgggggagcggctgccccagc	15	13	0	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr17:37882044A>G	uc002hso.3	+	22	3048	c.2810A>G	c.(2809-2811)aAg>aGg	p.K937R	ERBB2_uc010cwa.3_Missense_Mutation_p.K922R|ERBB2_uc002hsm.3_Missense_Mutation_p.K907R|ERBB2_uc002hsp.3_Missense_Mutation_p.K740R|ERBB2_uc010cwb.3_Missense_Mutation_p.K937R|ERBB2_uc010wek.2_Missense_Mutation_p.K661R|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	937	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTGCTGGAAAAGGGGGAGCGG	0.592		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			4	117					0	0	1	0	0	G	37882044	A	G	37882044	3	3	202	1	0	0	0	0	1	0	0	0	5206	72	3	3	2900	3	ERBB2	17	37882044	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08		37882044	43313166	30	3609											
BPTF	2186	broad.mit.edu	37	chr17	65871028	65871028	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaagaatgagactgagaatGactctaaagatgctgagaaa	10	5	1	6			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr17:65871028G>C	uc002jgf.3	+	3	1817	c.1756G>C	c.(1756-1758)Gac>Cac	p.D586H	BPTF_uc002jge.3_Missense_Mutation_p.D586H|BPTF_uc010wqm.1_Missense_Mutation_p.D586H	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	699					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACTGAGAATGACTCTAAAGA	0.373													4	48					0	0	1	0	0	C	65871028	G	C	65871028	3	2	202	1	0	0	0	0	1	0	0	0	1495	1290	45	4	1770	4	BPTF	17	65871028	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	27988984	65871028	15324182	31	3610											
WDR7	23335	broad.mit.edu	37	chr18	54362346	54362346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgacttgtttgtggtcGtgaagatggaagcatagtta	14	4	0	2			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr18:54362346G>A	uc002lgk.1	+	10	1485	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.R425H	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	425										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTTTGTGGTCGTGAAGATGGA	0.448													3	104					0	0	1	0	0	A	54362346	G	A	54362346	3	1	202	1	0	0	0	0	1	0	0	0	17317	1145	40	1	1312	1	WDR7	18	54362346	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		54362346	23714902	32	3611											
NPHS1	4868	broad.mit.edu	37	chr19	36334403	36334403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttgaacatgcccgggaGgatgggattggcatcgacag	15	9	0	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:36334403G>A	uc002oby.3	-	16	2461	c.2305C>T	c.(2305-2307)Ctc>Ttc	p.L769F		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	769	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGCCCGGGAGGATGGGATTG	0.572													5	357					0	0	1	0	0	A	36334403	G	A	36334403	3	1	202	1	0	0	0	0	1	0	0	0	10582	1000	35	2	1472	2	NPHS1	19	36334403	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		36334403	22794580	33	3612											
DYRK1B	9149	broad.mit.edu	37	chr19	40318234	40318234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgtcaatggccaggtcGtagggtgtgcccaggagcac	14	11	1	0	rs78838108	byFrequency	TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:40318234G>A	uc002omj.3	-	6	1150	c.870C>T	c.(868-870)taC>taT	p.Y290Y	DYRK1B_uc002omi.3_Silent_p.Y290Y|DYRK1B_uc002omk.3_Silent_p.Y290Y	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	290	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGGCCAGGTCGTAGGGTGTGC	0.597													3	116					0	0	1	0	0	A	40318234	G	A	40318234	2	1	202	1	0	0	0	0	0	0	0	1	4855	1140	40	1		1	DYRK1B	19	40318234	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	3983831	40318234	18810749	34	3613											
SLC24A3	57419	broad.mit.edu	37	chr20	19677526	19677526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaccagcgtgcctgactGcatggccagcctcattgtgg	14	12	1	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:19677526G>T	uc002wrl.3	+	13	1774	c.1577G>T	c.(1576-1578)tGc>tTc	p.C526F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	526						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGCCTGACTGCATGGCCAGC	0.597													5	126					0	0	1	0	0	T	19677526	G	T	19677526	3	4	202	1	0	0	0	0	1	0	0	0	14467	1319	46	4	1631	4	SLC24A3	20	19677526	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		19677526	43347994	35	3614											
CDH22	64405	broad.mit.edu	37	chr20	44815233	44815233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttggaggctcaccttggaTgtcaagcagagagaaatgag	14	6	2	3			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:44815233T>C	uc002xrm.2	-	8	2056	c.1657A>G	c.(1657-1659)Atc>Gtc	p.I553V	CDH22_uc010ghk.1_Missense_Mutation_p.I553V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	553	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCTTGGATGTCAAGCAGA	0.592													5	132					0	0	1	0	0	C	44815233	T	C	44815233	3	2	202	1	0	0	0	0	1	0	0	0	3107	1464	51	3	841	3	CDH22	20	44815233	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	25137707	44815233	18210287	36	3615											
DIDO1	11083	broad.mit.edu	37	chr20	61542301	61542301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggacacaaccccctgatCgttctcgggctcctgcttac	9	16	1	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:61542301C>T	uc002ydr.2	-	2	976	c.664G>A	c.(664-666)Gat>Aat	p.D222N	DIDO1_uc002yds.2_Missense_Mutation_p.D222N|DIDO1_uc002ydt.2_Missense_Mutation_p.D222N|DIDO1_uc002ydu.2_Missense_Mutation_p.D222N|DIDO1_uc002ydv.2_Missense_Mutation_p.D222N|DIDO1_uc002ydw.2_Missense_Mutation_p.D222N|DIDO1_uc002ydx.2_Missense_Mutation_p.D222N|DIDO1_uc011aao.1_Missense_Mutation_p.D222N	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	222					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCCCCTGATCGTTCTCGGGC	0.622													4	72					0	0	1	0	0	T	61542301	C	T	61542301	3	4	202	1	0	0	0	0	1	0	0	0	4522	884	31	1	6244	1	DIDO1	20	61542301	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	16727068	61542301	1483219	37	3616											
EDA	1896	broad.mit.edu	37	chrX	69253267	69253267	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatctttcaggtggagtgctCaatgactggtctcgcatcac	11	10	5	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:69253267C>T	uc004dxs.3	+	6	1055	c.813C>T	c.(811-813)ctC>ctT	p.L271L	EDA_uc011mpj.2_Silent_p.L268L|EDA_uc004dxr.3_Silent_p.L271L	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	271					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GTGGAGTGCTCAATGACTGGT	0.478											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	273					0	0	1	0	0	T	69253267	C	T	69253267	2	4	202	1	0	0	0	0	0	0	0	1	4903	813	29	2		2	EDA	23	69253267	Silent	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		69253267	86017293	38	3617											
SYTL4	94121	broad.mit.edu	37	chrX	99942164	99942164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcatacttcagggaaaAggcaatcctgccagtcacaa	8	12	3	0			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:99942164A>G	uc004egd.4	-	12	1440	c.1084T>C	c.(1084-1086)Ttt>Ctt	p.F362L	SYTL4_uc010nnb.3_Missense_Mutation_p.F34L|SYTL4_uc010nnc.3_Missense_Mutation_p.F362L|SYTL4_uc004ege.4_Missense_Mutation_p.F362L|SYTL4_uc004egf.4_Missense_Mutation_p.F362L|SYTL4_uc004egg.4_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	362	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCAGGGAAAAGGCAATCCTG	0.502													3	114					0	0	1	0	0	G	99942164	A	G	99942164	3	3	202	1	0	0	0	0	1	0	0	0	15482	72	3	3	959	3	SYTL4	23	99942164	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08	30688897	99942164	55328396	39	3618											
FLNA	2316	broad.mit.edu	37	chrX	153599581	153599581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggagccgcgcctgctgcGctctggcccgcccgagagtg	15	18	1	1			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:153599581G>A	uc004fkk.2	-	1	282	c.33C>T	c.(31-33)agC>agT	p.S11S	FLNA_uc010nuu.1_Silent_p.S11S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	11	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTGCTGCGCTCTGGCCCG	0.701													4	2					0	0	1	0	0	A	153599581	G	A	153599581	2	1	202	1	0	0	0	0	0	0	0	1	5933	1078	38	1		1	FLNA	23	153599581	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	53657417	153599581	1670979	40	3619											
PUM1	9698	broad.mit.edu	37	chr1	31532162	31532162	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaccatgctgcctctgaaaGaagtagtccaccatagcgtc	8	13	2	2			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr1:31532162G>C	uc001bsk.1	-	1	491	c.360C>G	c.(358-360)ttC>ttG	p.F120L	PUM1_uc001bsh.1_Missense_Mutation_p.F84L|PUM1_uc001bsi.1_Missense_Mutation_p.F84L|PUM1_uc001bsj.1_Missense_Mutation_p.F84L|PUM1_uc010oga.1_Missense_Mutation_p.F84L|PUM1_uc010ogb.1_Missense_Mutation_p.F120L	NM_001020658	NP_001018494	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 1, mRNA.	84					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCCTCTGAAAGAAGTAGTCCA	0.542													4	99					0	0	1	0	0	C	31532162	G	C	31532162	3	2	203	1	0	0	0	0	1	0	0	0	12825	933	33	4	3398	4	PUM1	1	31532162	Missense_Mutation	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		31532162	217718459	1	3620											
USH2A	7399	broad.mit.edu	37	chr1	216390846	216390846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgtgaccaagtgacAggtttcattcaaggctcctg	11	11	2	2			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr1:216390846A>G	uc001hku.1	-	14	3427	c.3040T>C	c.(3040-3042)Tgt>Cgt	p.C1014R	USH2A_uc001hkv.3_Missense_Mutation_p.C1014R	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1014	Laminin EGF-like 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAAGTGACAGGTTTCATTC	0.403										HNSCC(13;0.011)			16	37					0	0	1	0	0	G	216390846	A	G	216390846	3	3	203	1	0	0	0	0	1	0	0	0	17033	188	7	3	12814	3	USH2A	1	216390846	Missense_Mutation	SNP	A	TCGA-EL-A3T6-01A-11D-A21Z-08	184858684	216390846	32859775	2	3621											
PRDM8	56978	broad.mit.edu	37	chr4	81124557	81124557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaccatatgaggtcgcaCcacaaaaaggagtatgcgat	11	8	0	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr4:81124557C>T	uc010ijo.3	+	7	2780	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	PRDM8_uc003hmb.4_Silent_p.H647H|PRDM8_uc003hmc.4_Silent_p.H647H	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TGAGGTCGCACCACAAAAAGG	0.597													13	26					0	0	1	0	0	T	81124557	C	T	81124557	2	4	203	1	0	0	0	0	0	0	0	1	12462	506	18	2		2	PRDM8	4	81124557	Silent	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		81124557	110029719	3	3622											
PCDHB10	56126	broad.mit.edu	37	chr5	140573713	140573713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcaggctttcgagttcCgcgtgggcgccacagaccgc	13	16	0	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr5:140573713C>T	uc003lix.3	+	0	1762	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGAGTTCCGCGTGGGCGC	0.687													3	105					0	0	1	0	0	T	140573713	C	T	140573713	3	4	203	1	0	0	0	0	1	0	0	0	11535	652	23	1	1590	1	PCDHB10	5	140573713	Missense_Mutation	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		140573713	40341547	4	3623											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	48					0	0	1	0	0	T	140453136	A	T	140453136	3	4	203	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T6-01A-11D-A21Z-08		140453136	18685527	5	3624											
DCAF12	25853	broad.mit.edu	37	chr9	34107509	34107509	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacacctccaggctcccggtCtttcagaatggggatcttgg	11	13	3	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr9:34107509C>A	uc003ztt.2	-	2	730	c.388G>T	c.(388-390)Gac>Tac	p.D130Y		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12 (DCAF12), mRNA.	130						CUL4 RING ubiquitin ligase complex|centrosome				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GGCTCCCGGTCTTTCAGAATG	0.488													12	57					0	0	1	0	0	A	34107509	C	A	34107509	3	1	203	1	0	0	0	0	1	0	0	0	4263	913	32	4	1001	4	DCAF12	9	34107509	Missense_Mutation	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		34107509	107105922	6	3625											
SYT1	6857	broad.mit.edu	37	chr12	79747297	79747297	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttagcaagagaaattgggtGatatctgcttctcccttcgc	9	10	2	2			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr12:79747297G>A	uc001sys.3	+	9	1497	c.826G>A	c.(826-828)Gat>Aat	p.D276N	SYT1_uc001syt.3_Missense_Mutation_p.D276N|SYT1_uc001syu.3_Missense_Mutation_p.D273N|SYT1_uc001syv.3_Missense_Mutation_p.D276N	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	276	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAATTGGGTGATATCTGCTT	0.363													5	149					0	0	1	0	0	A	79747297	G	A	79747297	3	1	203	1	0	0	0	0	1	0	0	0	15462	1290	45	2	848	2	SYT1	12	79747297	Missense_Mutation	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		79747297	54104598	7	3626											
DYNC1H1	1778	broad.mit.edu	37	chr14	102466737	102466737	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtacagcctcgaaagGtatatcatgaaatcggtgtt	9	7	2	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr14:102466737G>T	uc001yks.2	+	18	4238	c.4074_splice	c.e18+1	p.K1358_splice		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1358	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTCGAAAGGTATATCATGA	0.403													12	27					0	0	1	0	0	T	102466737	G	T	102466737	5	4	203	1	0	0	0	0	0	0	1	0	4841	1275	44	4	4145	4	DYNC1H1	14	102466737	Splice_Site	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		102466737	4882803	8	3627											
NXN	64359	broad.mit.edu	37	chr17	726925	726925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctccaggctgctgctctCcagagactgcccattgtttc	8	17	1	1			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr17:726925C>T	uc002fsa.3	-	2	639	c.559G>A	c.(559-561)Gag>Aag	p.E187K	NXN_uc002fsb.1_Missense_Mutation_p.E74K|NXN_uc010vqd.2_5'Flank|NXN_uc010vqe.2_Missense_Mutation_p.E79K	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	187	Thioredoxin.				Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTGCTGCTCTCCAGAGACTGC	0.552													3	55					0	0	1	0	0	T	726925	C	T	726925	3	4	203	1	0	0	0	0	1	0	0	0	10787	864	30	2	772	2	NXN	17	726925	Missense_Mutation	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		726925	80468285	9	3628											
ADARB1	104	broad.mit.edu	37	chr21	46624644	46624644	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacaccctcaacaagcctttGctcagtggcaagtatctcta	6	13	3	0			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr21:46624644G>C	uc002zgy.2	+	9	2295	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.L580F|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.L580F|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Missense_Mutation_p.L620F|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	620	A to I editase.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ACAAGCCTTTGCTCAGTGGCA	0.488													25	35					0	0	1	0	0	C	46624644	G	C	46624644	3	2	203	1	0	0	0	0	1	0	0	0	282	1310	46	4	1890	4	ADARB1	21	46624644	Missense_Mutation	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		46624644	1505251	10	3629											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18014116	18014116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgagcgtgacacacatgGtgaaggcgggcagcggcgtc	17	10	0	3			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:18014116G>T	uc001ban.3	+	26	3217	c.3058G>T	c.(3058-3060)Gtg>Ttg	p.V1020L	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V981L|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V981L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V976L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.V781L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.V793L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.V723L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1020					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACACACATGGTGAAGGCGGG	0.622													38	39					0	0	1	0	0	T	18014116	G	T	18014116	3	4	204	1	0	0	0	0	1	0	0	0	895	1261	44	4	3160	4	ARHGEF10L	1	18014116	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		18014116	231236505	1	3630											
CSF3R	1441	broad.mit.edu	37	chr1	36941036	36941036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgccccagttcaggcaGcaggagagaaaggcctgagt	14	10	1	2			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:36941036G>A	uc001cax.2	-	3	887	c.303C>T	c.(301-303)tgC>tgT	p.C101C	CSF3R_uc001cav.2_Silent_p.C101C|CSF3R_uc001caw.2_Silent_p.C101C	NM_156039	NP_724781	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 3, mRNA.	101	Ig-like C2-type.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGTTCAGGCAGCAGGAGAGAA	0.607													4	153					0	0	1	0	0	A	36941036	G	A	36941036	2	1	204	1	0	0	0	0	0	0	0	1	3937	963	34	2		2	CSF3R	1	36941036	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	18926920	36941036	212309585	2	3631											
GUK1	2987	broad.mit.edu	37	chr1	228335126	228335126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggtggcggtgcaggccGtgcaggccatgaaccgcatc	16	12	0	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:228335126G>A	uc021pkf.1	+	4	409	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	GUK1_uc021pke.1_Missense_Mutation_p.V91M|GUK1_uc001hsj.3_Missense_Mutation_p.V31M|GUK1_uc001hsh.3_Missense_Mutation_p.V91M|GUK1_uc001hsi.3_Missense_Mutation_p.V112M|GUK1_uc010pvv.2_Missense_Mutation_p.V91M|GJC2_uc001hsk.3_5'Flank	NM_001242840	NP_001229769	Q16774	KGUA_HUMAN	Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA.	91	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GGTGCAGGCCGTGCAGGCCAT	0.657													4	157					0	0	1	0	0	A	228335126	G	A	228335126	3	1	204	1	0	0	0	0	1	0	0	0	6900	1145	40	1	352	1	GUK1	1	228335126	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	191394090	228335126	20915495	3	3632											
PROM2	150696	broad.mit.edu	37	chr2	95947921	95947921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggcagcgctctggacaGtcctgcagctcaacgactcc	12	14	2	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr2:95947921G>A	uc002suk.3	+	13	1808	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	PROM2_uc002suh.2_Missense_Mutation_p.V559I|PROM2_uc002sui.3_Missense_Mutation_p.V559I|PROM2_uc002suj.3_Missense_Mutation_p.V213I|PROM2_uc002sul.3_Missense_Mutation_p.V85I|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	559						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTCTGGACAGTCCTGCAGCT	0.617													3	51					0	0	1	0	0	A	95947921	G	A	95947921	3	1	204	1	0	0	0	0	1	0	0	0	12556	1029	36	2	1729	2	PROM2	2	95947921	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		95947921	147251452	4	3633											
ATP6V1A	523	broad.mit.edu	37	chr3	113505224	113505224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagtccttgatgcccTttttccgtaagtttgagatg	10	9	0	3			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr3:113505224T>C	uc003eao.3	+	5	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	237					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATGCCCTTTTTCCGTAA	0.423													3	263					0	0	1	0	0	C	113505224	T	C	113505224	3	2	204	1	0	0	0	0	1	0	0	0	1177	1609	56	3	728	3	ATP6V1A	3	113505224	Missense_Mutation	SNP	T	TCGA-EL-A3T7-01A-11D-A22D-08		113505224	84517206	5	3634											
MAP3K13	9175	broad.mit.edu	37	chr3	185146741	185146741	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcagttcagcaggtcaggCagtggcagtggtgggtttct	15	7	4	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr3:185146741C>A	uc010hyf.3	+	2	663	c.372C>A	c.(370-372)ggC>ggA	p.G124G	MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_Intron|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Silent_p.G124G|MAP3K13_uc010hyg.3_5'UTR	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	124					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCAGGTCAGGCAGTGGCAGTG	0.488													3	102					0	0	1	0	0	A	185146741	C	A	185146741	2	1	204	1	0	0	0	0	0	0	0	1	9247	697	25	4		4	MAP3K13	3	185146741	Silent	SNP	C	TCGA-EL-A3T7-01A-11D-A22D-08	71641517	185146741	12875689	6	3635											
PCDHAC2	56134	broad.mit.edu	37	chr5	140167696	140167696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggctacaacgcgtggctGtcctatgaactgcagccggc	13	13	0	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr5:140167696G>A	uc003lhb.2	+	0	1821	c.1821G>A	c.(1819-1821)ctG>ctA	p.L607L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.L607L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	620	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGTGGCTGTCCTATGAAC	0.672													4	199					0	0	1	0	0	A	140167696	G	A	140167696	2	1	204	1	0	0	0	0	0	0	0	1	11533	1364	48	2		2	PCDHAC2	5	140167696	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		140167696	40747564	7	3636											
BAG2	9532	broad.mit.edu	37	chr6	57037528	57037528	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagatcaacgctaaagccaaCgaggggcgcttctgccgctc	11	13	2	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:57037528C>G	uc003pdr.3	+	0	425	c.33C>G	c.(31-33)aaC>aaG	p.N11K	BC032020_uc003pdq.1_5'Flank|BAG2_uc011dxo.2_5'Flank	NM_004282	NP_004273	O95816	BAG2_HUMAN	Homo sapiens BCL2-associated athanogene 2 (BAG2), mRNA.	11					apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTAAAGCCAACGAGGGGCGCT	0.687													6	5					0	0	1	0	0	G	57037528	C	G	57037528	3	3	204	1	0	0	0	0	1	0	0	0	1287	535	19	4	35	4	BAG2	6	57037528	Missense_Mutation	SNP	C	TCGA-EL-A3T7-01A-11D-A22D-08		57037528	114077539	8	3637											
RNF146	81847	broad.mit.edu	37	chr6	127608035	127608036	+	Missense_Mutation	DNP	GA	GA	CT													caaccttgttgtcaccagaaGaactcaaggcagcaagtaga							TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:127608035_127608036GA>CT	uc021zes.1	+	2	413_414	c.277_278GA>CT	c.(277-279)gaa>CTa	p.E93L	RNF146_uc021zet.1_Missense_Mutation_p.E92L|RNF146_uc021zeu.1_Missense_Mutation_p.E92L|RNF146_uc021zev.1_Missense_Mutation_p.E92L|RNF146_uc021zew.1_Missense_Mutation_p.E93L|RNF146_uc003qat.3_Missense_Mutation_p.E92L|RNF146_uc021zex.1_Missense_Mutation_p.E92L|RNF146_uc003qaw.3_Missense_Mutation_p.E92L|RNF146_uc003qau.3_Missense_Mutation_p.E92L|RNF146_uc003qav.3_Missense_Mutation_p.E93L|RNF146_uc021zey.1_Missense_Mutation_p.E92L	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	93	WWE.				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTCACCAGAAGAACTCAAGGCA	0.46													26	33					0	0	1	0	0	CT	127608036	GA	CT	127608035	3	2	204	1	0	0	0	0	1	0	0	0	13448	943	33	4	276	4	RNF146	6	127608035	Missense_Mutation	DNP	GA	TCGA-EL-A3T7-01A-11D-A22D-08	70570507	127608035	43507032	9	3638											
FAM40B	57464	broad.mit.edu	37	chr7	129102860	129102860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctaccagggaatgctGtacagccttccgcagtatat	8	12	1	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr7:129102860G>A	uc011koy.2	+	13	1570	c.1530G>A	c.(1528-1530)ctG>ctA	p.L510L	FAM40B_uc003vow.3_Silent_p.L510L|FAM40B_uc011koz.2_Silent_p.L2L	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	510										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGGAATGCTGTACAGCCTTC	0.507													4	83					0	0	1	0	0	A	129102860	G	A	129102860	2	1	204	1	0	0	0	0	0	0	0	1	5561	1364	48	2		2	FAM40B	7	129102860	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		129102860	30035803	10	3639											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				45	72					0	0	1	0	0	T	140453136	A	T	140453136	3	4	204	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T7-01A-11D-A22D-08	11350276	140453136	18685527	11	3640											
CD163	9332	broad.mit.edu	37	chr12	7649609	7649609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcttgcatgccacagcaGcatcgtaactgtcccagccg	10	14	0	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr12:7649609G>A	uc001qsz.3	-	4	1027	c.899C>T	c.(898-900)gCt>gTt	p.A300V	CD163_uc001qta.3_Missense_Mutation_p.A300V|CD163_uc009zfw.2_Missense_Mutation_p.A300V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	300	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.D299H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCCACAGCAGCATCGTAACT	0.498													3	129					0	0	1	0	0	A	7649609	G	A	7649609	3	1	204	1	0	0	0	0	1	0	0	0	2967	971	34	2	2619	2	CD163	12	7649609	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		7649609	126202286	12	3641											
SCAMP2	10066	broad.mit.edu	37	chr15	75137837	75137837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaggaagactgagaGcacggcacagagggtgaaga	17	7	0	5			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:75137837G>A	uc002azb.1	-	7	906	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.L128F	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	278					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AAGACTGAGAGCACGGCACAG	0.562													4	283					0	0	1	0	0	A	75137837	G	A	75137837	3	1	204	1	0	0	0	0	1	0	0	0	13871	971	34	2	165	2	SCAMP2	15	75137837	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		75137837	27393555	13	3642											
VPS33B	26276	broad.mit.edu	37	chr15	91565471	91565471	+	Frame_Shift_Del	DEL	A	A	-													ggggcgtccggccgatggggAaaagccatggcagcggtcac							TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:91565471delA	uc002bqp.1	-	0	363	c.9delT	c.(7-9)tttfs	p.F3fs	VPS33B_uc002bqq.1_5'UTR|VPS33B_uc010uqu.1_Frame_Shift_Del_p.F3fs|AK055351_uc002bqr.2_5'Flank	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.	3					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCGATGGGGAAAAGCCATGG	0.652													2	4	---	---	---	---						-	91565471	A	-	91565471	7	5	204	1	0	1	0	1	0	0	0	0	17199	243	9	0	1936	0	VPS33B	15	91565471	Frame_Shift_Del	DEL	A	TCGA-EL-A3T7-01A-11D-A22D-08	16427634	91565471	10965921	14	3643											
TPPP3	51673	broad.mit.edu	37	chr16	67424874	67424874	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcggtccctgtcacggacttTccgtcagccaccttgcagtc	9	16	2	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr16:67424874T>A	uc002esz.3	-	0	976	c.141A>T	c.(139-141)ggA>ggT	p.G47G	TPPP3_uc002etb.3_Silent_p.G47G|TPPP3_uc002eta.3_Silent_p.G47G|U1_uc021tkb.1_5'Flank	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	47					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCACGGACTTTCCGTCAGCCA	0.572													23	76					0	0	1	0	0	A	67424874	T	A	67424874	2	1	204	1	0	0	0	0	0	0	0	1	16412	1770	62	5		5	TPPP3	16	67424874	Silent	SNP	T	TCGA-EL-A3T7-01A-11D-A22D-08		67424874	22929879	15	3644											
SUPT6H	6830	broad.mit.edu	37	chr17	27020729	27020729	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcaggtgtggaaccactttGacagcggttcgtgcccaggc	13	11	1	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:27020729G>C	uc010crt.3	+	28	3841	c.3649G>C	c.(3649-3651)Gac>Cac	p.D1217H	SUPT6H_uc002hby.3_Missense_Mutation_p.D1217H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1217	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAACCACTTTGACAGCGGTTC	0.502													25	78					0	0	1	0	0	C	27020729	G	C	27020729	3	2	204	1	0	0	0	0	1	0	0	0	15397	1290	45	4	3755	4	SUPT6H	17	27020729	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		27020729	54174481	16	3645											
ACE	1636	broad.mit.edu	37	chr17	61566087	61566087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggcgagacaaggcggGgagagccatcctccagtttt	16	10	0	2			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:61566087G>A	uc002jau.2	+	15	2418	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E	ACE_uc010wpj.2_Missense_Mutation_p.G221E|ACE_uc010ddv.2_Missense_Mutation_p.G22E|ACE_uc002jav.2_Missense_Mutation_p.G221E|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.G105E	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	795	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GACAAGGCGGGGAGAGCCATC	0.557													3	148					0	0	1	0	0	A	61566087	G	A	61566087	3	1	204	1	0	0	0	0	1	0	0	0	136	1232	43	2	2649	2	ACE	17	61566087	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	34545358	61566087	19629123	17	3646											
CHAF1A	10036	broad.mit.edu	37	chr19	4433112	4433112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggcaatgtgaacgggaGcaaggtcatcatccgggagt	15	9	2	1			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:4433112G>A	uc002mal.3	+	12	2349	c.2249G>A	c.(2248-2250)aGc>aAc	p.S750N		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	750	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAACGGGAGCAAGGTCATC	0.667								Chromatin Structure					3	40					0	0	1	0	0	A	4433112	G	A	4433112	3	1	204	1	0	0	0	0	1	0	0	0	3311	971	34	2	2299	2	CHAF1A	19	4433112	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		4433112	54695871	18	3647											
SCN1B	6324	broad.mit.edu	37	chr19	35523482	35523482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactcggagaccgaggccGtgtatgggatgaccttcaaa	14	9	1	2			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:35523482G>A	uc002nxo.2	+	1	224	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	SCN1B_uc002nxp.3_Missense_Mutation_p.V31M|SCN1B_uc010xsg.2_Missense_Mutation_p.V31M	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	31	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GACCGAGGCCGTGTATGGGAT	0.622													4	201					0	0	1	0	0	A	35523482	G	A	35523482	3	1	204	1	0	0	0	0	1	0	0	0	13915	1145	40	1	97	1	SCN1B	19	35523482	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	31090370	35523482	23605501	19	3648											
PPP1R13L	10848	broad.mit.edu	37	chr19	45901354	45901354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttcatccaccttggccGccgccgtgtccagctccatc	8	18	2	0			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:45901354G>A	uc002pbn.3	-	2	184	c.107C>T	c.(106-108)gCg>gTg	p.A36V	PPP1R13L_uc002pbo.3_Missense_Mutation_p.A36V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A36V	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	36					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACCTTGGCCGCCGCCGTGTC	0.652													3	117					0	0	1	0	0	A	45901354	G	A	45901354	3	1	204	1	0	0	0	0	1	0	0	0	12358	1087	38	1	2423	1	PPP1R13L	19	45901354	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	10377872	45901354	13227629	20	3649											
SGSM3	27352	broad.mit.edu	37	chr22	40805710	40805710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcccctgaaggagggcGtccgggacatgctggtgaag	17	10	0	2			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr22:40805710G>A	uc003ayu.1	+	21	2406	c.2197G>A	c.(2197-2199)Gtc>Atc	p.V733I	SGSM3_uc011aot.1_Missense_Mutation_p.V644I	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	733					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GAAGGAGGGCGTCCGGGACAT	0.662													4	169					0	0	1	0	0	A	40805710	G	A	40805710	3	1	204	1	0	0	0	0	1	0	0	0	14224	1145	40	1	2279	1	SGSM3	22	40805710	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		40805710	10498856	21	3650											
SYTL4	94121	broad.mit.edu	37	chrX	99955909	99955909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgggctccttctgccGctcctgaatgatctttcttc	7	14	3	2			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chrX:99955909G>A	uc004egd.4	-	6	879	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	SYTL4_uc010nnc.3_Missense_Mutation_p.R175W|SYTL4_uc004ege.4_Missense_Mutation_p.R175W|SYTL4_uc004egf.4_Missense_Mutation_p.R175W|SYTL4_uc004egg.4_Missense_Mutation_p.R175W	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	175					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCTTCTGCCGCTCCTGAATG	0.388													17	206					0	0	1	0	0	A	99955909	G	A	99955909	3	1	204	1	0	0	0	0	1	0	0	0	15482	1086	38	1	1544	1	SYTL4	23	99955909	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		99955909	55314651	22	3651											
AGPS	8540	broad.mit.edu	37	chr2	178307134	178307134	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtttcctattttggcaGgaggaacaagtgtttcatat	10	5	1	0			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr2:178307134G>A	uc002ull.2	+	7	757	c.710_splice	c.e7-1	p.G237_splice	AGPS_uc010zfb.1_Splice_Site_p.G147_splice	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	237	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TATTTTGGCAGGAGGAACAAG	0.333													3	87					0	0	1	0	0	A	178307134	G	A	178307134	5	1	205	1	0	0	0	0	0	0	1	0	394	1014	35	2	735	2	AGPS	2	178307134	Splice_Site	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		178307134	64892239	1	3652											
FAM117B	150864	broad.mit.edu	37	chr2	203590986	203590986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcagattgcaaaattacGccagcagttgcagagaagta	9	8	1	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr2:203590986G>T	uc010zhx.2	+	3	870	c.860G>T	c.(859-861)cGc>cTc	p.R287L		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	287								p.K286*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GCAAAATTACGCCAGCAGTTG	0.393													4	95					0	0	1	0	0	T	203590986	G	T	203590986	3	4	205	1	0	0	0	0	1	0	0	0	5410	1087	38	4	874	4	FAM117B	2	203590986	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08	25283852	203590986	39608387	2	3653											
ZDBF2	57683	broad.mit.edu	37	chr2	207169562	207169562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaggatgaggatgctaccGaagagagaccatccgaggtt	14	7	0	4			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr2:207169562G>A	uc002vbp.2	+	4	560	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	104							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATGCTACCGAAGAGAGACC	0.458													17	30					0	0	1	0	0	A	207169562	G	A	207169562	3	1	205	1	0	0	0	0	1	0	0	0	17596	1059	37	1	320	1	ZDBF2	2	207169562	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08	3578576	207169562	36029811	3	3654											
RBM28	55131	broad.mit.edu	37	chr7	127963614	127963614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatatcagcagcactcacaCcctctgcagccttcgtccca	5	19	3	0			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr7:127963614C>T	uc003vmp.2	-	12	1485	c.1370G>A	c.(1369-1371)gGt>gAt	p.G457D	RBM28_uc011koj.1_Missense_Mutation_p.G316D	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	457					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGCACTCACACCCTCTGCAGC	0.458													6	140					0	0	1	0	0	T	127963614	C	T	127963614	3	4	205	1	0	0	0	0	1	0	0	0	13128	507	18	2	937	2	RBM28	7	127963614	Missense_Mutation	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08		127963614	31175049	4	3655											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	48					0	0	1	0	0	T	140453136	A	T	140453136	3	4	205	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T8-01A-21D-A22D-08	12489522	140453136	18685527	5	3656											
ATP6V1C1	528	broad.mit.edu	37	chr8	104066176	104066176	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgactttgttcttgattcaGagtatctcgtcacattactg	7	8	4	3			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr8:104066176G>A	uc003ykz.4	+	6	783	c.538G>A	c.(538-540)Gag>Aag	p.E180K	ATP6V1C1_uc010mbz.3_Missense_Mutation_p.E105K|ATP6V1C1_uc003yla.3_Missense_Mutation_p.E180K|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.E105K	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.	180					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TCTTGATTCAGAGTATCTCGT	0.308													7	82					0	0	1	0	0	A	104066176	G	A	104066176	3	1	205	1	0	0	0	0	1	0	0	0	1180	943	33	2	560	2	ATP6V1C1	8	104066176	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		104066176	42297846	6	3657											
SFMBT2	57713	broad.mit.edu	37	chr10	7242431	7242431	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtattttcttaacaggCactgtgggcggcaatctgtc	12	8	2	1			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr10:7242431C>A	uc009xio.2	-	13	1594	c.1503G>T	c.(1501-1503)gtG>gtT	p.V501V	SFMBT2_uc001ijn.2_Silent_p.V501V|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	501					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCTTAACAGGCACTGTGGGCG	0.438													28	36					0	0	1	0	0	A	7242431	C	A	7242431	2	1	205	1	0	0	0	0	0	0	0	1	14158	697	25	4		4	SFMBT2	10	7242431	Silent	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08		7242431	128292316	7	3658											
CDHR1	92211	broad.mit.edu	37	chr10	85972907	85972907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actattccatcacccatgcaGagcccgccaacgtgttcgac	7	16	1	1	rs144856473		TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr10:85972907G>C	uc001kcv.3	+	15	1948	c.1843G>C	c.(1843-1845)Gag>Cag	p.E615Q	CDHR1_uc001kcw.3_Missense_Mutation_p.E615Q|CDHR1_uc009xst.3_Missense_Mutation_p.E319Q|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	615	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity	p.E615K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCCATGCAGAGCCCGCCAA	0.572													7	128					0	0	1	0	0	C	85972907	G	C	85972907	3	2	205	1	0	0	0	0	1	0	0	0	3118	943	33	4	1905	4	CDHR1	10	85972907	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08	78730476	85972907	49561840	8	3659											
QSER1	79832	broad.mit.edu	37	chr11	32956671	32956671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagattttctgaaatccggGcccaagcagcagttttccac	8	11	1	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr11:32956671G>A	uc001mty.3	+	3	3747	c.3480G>A	c.(3478-3480)ggG>ggA	p.G1160G	QSER1_uc001mtz.1_Silent_p.G921G|QSER1_uc001mua.3_Silent_p.G665G	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1160										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGAAATCCGGGCCCAAGCAGC	0.448													3	64					0	0	1	0	0	A	32956671	G	A	32956671	2	1	205	1	0	0	0	0	0	0	0	1	12882	1190	42	2		2	QSER1	11	32956671	Silent	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		32956671	102049845	9	3660											
MARS	4141	broad.mit.edu	37	chr12	57892382	57892382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtttgatatttttggtcGcaccaccactccacagcaga	7	12	0	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr12:57892382G>A	uc001sog.3	+	8	1221	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.R229H|MARS_uc010srq.1_Missense_Mutation_p.R122H	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	356					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ATTTTTGGTCGCACCACCACT	0.498													3	100					0	0	1	0	0	A	57892382	G	A	57892382	3	1	205	1	0	0	0	0	1	0	0	0	9316	1087	38	1	1101	1	MARS	12	57892382	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		57892382	75959513	10	3661											
OR10G2	26534	broad.mit.edu	37	chr14	22102364	22102364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacatgaagcaactggcgGccactaccctgacgtccaca	8	14	0	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr14:22102364G>A	uc010tmc.2	-	0	635	c.635C>T	c.(634-636)gCc>gTc	p.A212V		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCAACTGGCGGCCACTACCCT	0.532													3	112					0	0	1	0	0	A	22102364	G	A	22102364	3	1	205	1	0	0	0	0	1	0	0	0	10899	1203	42	2	300	2	OR10G2	14	22102364	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		22102364	85247176	11	3662											
TDP1	55775	broad.mit.edu	37	chr14	90430003	90430003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaaagtataactctggagCcctccacatcaagggtaaga	9	11	2	1			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr14:90430003C>A	uc001xxy.3	+	2	844	c.545C>A	c.(544-546)gCc>gAc	p.A182D	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.A182D|TDP1_uc010atn.3_Missense_Mutation_p.A182D|TDP1_uc001xya.3_5'UTR|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	182					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AACTCTGGAGCCCTCCACATC	0.512								Repair of DNA-protein crosslinks					4	48					0	0	1	0	0	A	90430003	C	A	90430003	3	1	205	1	0	0	0	0	1	0	0	0	15725	739	26	4	547	4	TDP1	14	90430003	Missense_Mutation	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08	68327639	90430003	16919537	12	3663											
NOD2	64127	broad.mit.edu	37	chr16	50759417	50759417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggaggagaaccatcTccaggatgaaggtgtatgtt	13	8	1	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr16:50759417T>A	uc002egm.1	+	9	3005	c.2900T>A	c.(2899-2901)cTc>cAc	p.L967H	NOD2_uc010vgq.1_Missense_Mutation_p.L12H	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	967					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.L967L(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAGAACCATCTCCAGGATGAA	0.413													3	90					0	0	1	0	0	A	50759417	T	A	50759417	3	1	205	1	0	0	0	0	1	0	0	0	10517	1551	54	5	2938	5	NOD2	16	50759417	Missense_Mutation	SNP	T	TCGA-EL-A3T8-01A-21D-A22D-08		50759417	39595336	13	3664											
FECH	2235	broad.mit.edu	37	chr18	55247321	55247321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctcttctgcggttgaaCttgaggttttgcaccctggg	11	10	2	2			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr18:55247321C>T	uc002lgp.4	-	1	295	c.178G>A	c.(178-180)Gtt>Att	p.V60I	FECH_uc002lgq.4_Missense_Mutation_p.V60I|FECH_uc002lgr.4_5'UTR	NM_001012515	NP_001012533	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	60					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TGCGGTTGAACTTGAGGTTTT	0.522													9	142					0	0	1	0	0	T	55247321	C	T	55247321	3	4	205	1	0	0	0	0	1	0	0	0	5808	565	20	2	1151	2	FECH	18	55247321	Missense_Mutation	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08		55247321	22829927	14	3665											
SLC25A33	84275	broad.mit.edu	37	chr1	9642501	9642501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcagatcccaaatactgCcattgtgttgtctacttatg	8	11	1	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr1:9642501C>T	uc001apw.3	+	6	1131	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA.	303					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCAAATACTGCCATTGTGTTG	0.453													7	20					0	0	1	0	0	T	9642501	C	T	9642501	3	4	206	1	0	0	0	0	1	0	0	0	14497	739	26	2	934	2	SLC25A33	1	9642501	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		9642501	239608120	1	3666											
GJA8	2703	broad.mit.edu	37	chr1	147380580	147380580	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctctttgaagtgggcttcatCgtgggccactacttcctgta	10	11	2	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr1:147380580C>A	uc001epu.2	+	1	551	c.498C>A	c.(496-498)atC>atA	p.I166I	GJA8_uc021ovm.1_Silent_p.I166I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	166					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGGGCTTCATCGTGGGCCACT	0.607													101	144					0	0	1	0	0	A	147380580	C	A	147380580	2	1	206	1	0	0	0	0	0	0	0	1	6405	874	31	4		4	GJA8	1	147380580	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	137738079	147380580	101870041	2	3667											
SLC8A1	6546	broad.mit.edu	37	chr2	40342768	40342768	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccactttgctggcaaatgtGtctgcagaggaagaagagaa	13	7	1	3			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:40342768G>T	uc002rrx.3	-	10	2570	c.2546_splice	c.e10-1	p.D849_splice	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.D844_splice|SLC8A1_uc002rsb.2_Splice_Site_p.D841_splice|SLC8A1_uc002rrz.3_Splice_Site_p.D836_splice|SLC8A1_uc002rsa.3_Splice_Site_p.D813_splice|SLC8A1_uc002rsd.4_Splice_Site_p.D813_splice	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	849					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGCAAATGTGTCTGCAGAGG	0.507													16	49					0	0	1	0	0	T	40342768	G	T	40342768	5	4	206	1	0	0	0	0	0	0	1	0	14706	1391	48	4	378	4	SLC8A1	2	40342768	Splice_Site	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		40342768	202856605	3	3668											
KCNK12	56660	broad.mit.edu	37	chr2	47797086	47797086	+	Frame_Shift_Del	DEL	T	T	-													gacgcgccgctcacctatggTtgacaccacggtgcccacga							TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:47797086delT	uc002rwb.3	-	0	385	c.385delA	c.(385-387)accfs	p.T129fs	MSH2_uc002rvz.3_Intron	NM_022055	NP_071338	Q9HB15	KCNKC_HUMAN	Homo sapiens potassium channel, subfamily K, member 12 (KCNK12), mRNA.	129						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.0?(2)|p.?(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCACCTATGGTTGACACCACG	0.721													2	4	---	---	---	---						-	47797086	T	-	47797086	7	5	206	1	0	1	0	1	0	0	0	0	8060	1725	60	0	915	0	KCNK12	2	47797086	Frame_Shift_Del	DEL	T	TCGA-EL-A3T9-01A-21D-A22D-08	7454318	47797086	195402287	4	3669											
ITGA6	3655	broad.mit.edu	37	chr2	173292654	173292654	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccgggagcctcttcggcttCtcgctggccatgcactggca	12	16	2	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:173292654C>T	uc002uhp.1	+	0	341	c.138C>T	c.(136-138)ttC>ttT	p.F46F	ITGA6_uc010fqk.1_Intron|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Silent_p.F46F	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	46					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTCGGCTTCTCGCTGGCCA	0.672													19	39					0	0	1	0	0	T	173292654	C	T	173292654	2	4	206	1	0	0	0	0	0	0	0	1	7880	912	32	2		2	ITGA6	2	173292654	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	125495568	173292654	69906719	5	3670											
C3orf43	255798	broad.mit.edu	37	chr3	196235046	196235046	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatggactcccatacaacTctaacgcgcttgttcttaac	6	12	2	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr3:196235046T>C	uc003fws.3	-	2	514	c.357A>G	c.(355-357)agA>agG	p.R119R	C3orf43_uc003fwr.3_Silent_p.R111R	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA.	119						integral to membrane				NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	8	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		CCCATACAACTCTAACGCGCT	0.483													25	73					0	0	1	0	0	C	196235046	T	C	196235046	2	2	206	1	0	0	0	0	0	0	0	1	2230	1548	54	3		3	C3orf43	3	196235046	Silent	SNP	T	TCGA-EL-A3T9-01A-21D-A22D-08		196235046	1787384	6	3671											
ALB	213	broad.mit.edu	37	chr4	74274412	74274412	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagaacctgagagaaatgaAtgcttcttgcaacacaaaga	8	8	1	5			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr4:74274412A>T	uc003hgs.4	+	3	445	c.372A>T	c.(370-372)gaA>gaT	p.E124D	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.E14D	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	124	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGAGAAATGAATGCTTCTTGC	0.433													14	35					0	0	1	0	0	T	74274412	A	T	74274412	3	4	206	1	0	0	0	0	1	0	0	0	486	98	4	5	386	5	ALB	4	74274412	Missense_Mutation	SNP	A	TCGA-EL-A3T9-01A-21D-A22D-08		74274412	116879864	7	3672											
KIAA1109	84162	broad.mit.edu	37	chr4	123185435	123185435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatcttccaacaataccCtcagcctcagatttcaacac	2	17	4	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr4:123185435C>T	uc003ieh.3	+	42	7215	c.7170C>T	c.(7168-7170)ccC>ccT	p.P2390P	KIAA1109_uc003iel.1_Silent_p.P325P|KIAA1109_uc003iek.2_Silent_p.P1009P	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2390					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAACAATACCCTCAGCCTCAG	0.398													27	64					0	0	1	0	0	T	123185435	C	T	123185435	2	4	206	1	0	0	0	0	0	0	0	1	8208	668	24	2		2	KIAA1109	4	123185435	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	48911023	123185435	67968841	8	3673											
ITGA2	3673	broad.mit.edu	37	chr5	52360756	52360756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagggcattttgggtcaGcaccaatttcttgaaggccc	11	10	2	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:52360756G>A	uc003joy.3	+	13	1760	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.Q463Q|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	539					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.Q539Q(3)|p.G538C(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTTGGGTCAGCACCAATTTC	0.428													3	104					0	0	1	0	0	A	52360756	G	A	52360756	2	1	206	1	0	0	0	0	0	0	0	1	7875	962	34	2		2	ITGA2	5	52360756	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		52360756	128554504	9	3674											
PCSK1	5122	broad.mit.edu	37	chr5	95735751	95735751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatccaccagagctttggCatttagcaagccaaatccaa	6	11	0	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:95735751C>T	uc003kls.2	-	9	1575	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	PCSK1_uc010jbi.2_Missense_Mutation_p.A136T|PCSK1_uc021ybq.1_Missense_Mutation_p.A399T	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	446					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAGCTTTGGCATTTAGCAAG	0.493													47	49					0	0	1	0	0	T	95735751	C	T	95735751	3	4	206	1	0	0	0	0	1	0	0	0	11600	710	25	2	945	2	PCSK1	5	95735751	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	43374995	95735751	85179509	10	3675											
KDM3B	51780	broad.mit.edu	37	chr5	137727661	137727661	+	Frame_Shift_Del	DEL	G	G	-													ggcggctttctgtcctccccGgcagatttttcacaggagaa							TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:137727661delG	uc003lcy.1	+	7	2540	c.2340delG	c.(2338-2340)ccgfs	p.P780fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.P436fs|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	780					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGTCCTCCCCGGCAGATTTTT	0.532													193	270	---	---	---	---						-	137727661	G	-	137727661	7	5	206	1	0	1	0	1	0	0	0	0	8127	1103	39	0	2370	0	KDM3B	5	137727661	Frame_Shift_Del	DEL	G	TCGA-EL-A3T9-01A-21D-A22D-08	41991910	137727661	43187599	11	3676											
HSPA1L	3305	broad.mit.edu	37	chr6	31779208	31779208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaccataggcaatggcaGcagccgtgggctcattgatg	12	10	1	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr6:31779208G>A	uc003nxh.3	-	1	725	c.542C>T	c.(541-543)gCt>gTt	p.A181V	HSPA1L_uc010jte.3_Missense_Mutation_p.A181V|HSPA1L_uc021yuz.1_Missense_Mutation_p.A181V	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	181					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGCAATGGCAGCAGCCGTGGG	0.458													3	72					0	0	1	0	0	A	31779208	G	A	31779208	3	1	206	1	0	0	0	0	1	0	0	0	7410	971	34	2	1387	2	HSPA1L	6	31779208	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		31779208	139335859	12	3677											
FLNC	2318	broad.mit.edu	37	chr7	128494189	128494189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccacccaggtcggcgggGaccccttccctgctgtgttt	12	15	0	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr7:128494189G>A	uc003vnz.4	+	39	6855	c.6646G>A	c.(6646-6648)Gac>Aac	p.D2216N	FLNC_uc003voa.4_Missense_Mutation_p.D2183N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2216	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTCGGCGGGGACCCCTTCCC	0.697													30	38					0	0	1	0	0	A	128494189	G	A	128494189	3	1	206	1	0	0	0	0	1	0	0	0	5935	1174	41	2	6804	2	FLNC	7	128494189	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		128494189	30644474	13	3678											
GPT	2875	broad.mit.edu	37	chr8	145730778	145730778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggagcgtgcctgggcGctggacgtggccgagcttca	18	11	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr8:145730778G>A	uc003zdh.4	+	4	868	c.645G>A	c.(643-645)gcG>gcA	p.A215A	GPT_uc011llj.1_Silent_p.A215A	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	215					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGCCTGGGCGCTGGACGTGG	0.672													3	39					0	0	1	0	0	A	145730778	G	A	145730778	2	1	206	1	0	0	0	0	0	0	0	1	6737	1074	38	1		1	GPT	8	145730778	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		145730778	633244	14	3679											
STOML2	30968	broad.mit.edu	37	chr9	35102741	35102741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccaggcctcctgctgcGgcacgaacagtaccacggtg	11	17	0	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr9:35102741G>A	uc003zwi.3	-	1	188	c.125C>T	c.(124-126)cCg>cTg	p.P42L	STOML2_uc011lou.2_Missense_Mutation_p.P42L	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	42						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCCTGCTGCGGCACGAACAG	0.642													52	111					0	0	1	0	0	A	35102741	G	A	35102741	3	1	206	1	0	0	0	0	1	0	0	0	15313	1116	39	1	981	1	STOML2	9	35102741	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		35102741	106110690	15	3680											
VWA2	340706	broad.mit.edu	37	chr10	116045883	116045883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggagctgctggtggcgGtgcctgtgggggagtaccag	21	8	0	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr10:116045883G>A	uc001lbl.1	+	10	1504	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	VWA2_uc001lbk.1_Missense_Mutation_p.V395M|VWA2_uc009xyf.1_Missense_Mutation_p.V91M	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	395	VWFA 2.					extracellular region		p.A394V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCTGGTGGCGGTGCCTGTGGG	0.662													4	177					0	0	1	0	0	A	116045883	G	A	116045883	3	1	206	1	0	0	0	0	1	0	0	0	17236	1261	44	2	1221	2	VWA2	10	116045883	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		116045883	19488864	16	3681											
ETS1	2113	broad.mit.edu	37	chr11	128332410	128332410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaatagtagcgtaggccaCggctcagtttctcataattc	9	10	2	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr11:128332410C>T	uc001qej.2	-	9	1389	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	ETS1_uc010sbs.1_Missense_Mutation_p.R391H|ETS1_uc009zch.2_Missense_Mutation_p.R175H|ETS1_uc009zcg.2_3'UTR	NM_001143820	NP_001137292	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.	391					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCGTAGGCCACGGCTCAGTTT	0.458													21	42					0	0	1	0	0	T	128332410	C	T	128332410	3	4	206	1	0	0	0	0	1	0	0	0	5275	536	19	1	157	1	ETS1	11	128332410	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		128332410	6674106	17	3682											
LRP1	4035	broad.mit.edu	37	chr12	57553705	57553705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatcagcgtggccaggctGgagaaagctgctcagacccg	13	12	2	2			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr12:57553705G>A	uc001snd.3	+	11	2362	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	632					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGCCAGGCTGGAGAAAGCTG	0.567													3	130					0	0	1	0	0	A	57553705	G	A	57553705	2	1	206	1	0	0	0	0	0	0	0	1	8951	1335	47	2		2	LRP1	12	57553705	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		57553705	76298190	18	3683											
GALNT4	8693	broad.mit.edu	37	chr12	89864264	89864264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatgcaattaactccaccGctgtgaactgatttgtagaa	8	8	0	3			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr12:89864264G>A	uc001tbc.3	-	6	1051	c.684C>T	c.(682-684)agC>agT	p.S228S	GALNT4_uc001tba.3_Silent_p.S186S|GALNT4_uc001tbb.3_Silent_p.S98S|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Intron	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN	Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.	0	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TAACTCCACCGCTGTGAACTG	0.388													3	68					0	0	1	0	0	A	89864264	G	A	89864264	2	1	206	1	0	0	0	0	0	0	0	1	6215	1078	38	1		1	GALNT4	12	89864264	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	32310559	89864264	43987631	19	3684											
GPR135	64582	broad.mit.edu	37	chr14	59930877	59930877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggtctgggcctgccgGgcggcggccagcagcaccag	17	14	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr14:59930877G>A	uc010apj.3	-	0	1183	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	GPR135_uc001xed.2_Non-coding_Transcript	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	Homo sapiens G protein-coupled receptor 135 (GPR135), mRNA.	356						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GGGCCTGCCGGGCGGCGGCCA	0.667													5	16					0	0	1	0	0	A	59930877	G	A	59930877	2	1	206	1	0	0	0	0	0	0	0	1	6644	1219	43	2		2	GPR135	14	59930877	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		59930877	47418663	20	3685											
NTRK3	4916	broad.mit.edu	37	chr15	88679156	88679156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagggcaacactggcaTtgctcatgcccaccacgttc	10	14	1	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr15:88679156T>G	uc002bme.2	-	8	1187	c.881A>C	c.(880-882)aAt>aCt	p.N294T	NTRK3_uc002bmh.2_Missense_Mutation_p.N294T|NTRK3_uc002bmf.2_Missense_Mutation_p.N294T|NTRK3_uc021sua.1_Missense_Mutation_p.N294T|NTRK3_uc010upl.1_Missense_Mutation_p.N196T|NTRK3_uc010bnh.1_Missense_Mutation_p.N294T|NTRK3_uc002bmg.3_Missense_Mutation_p.N294T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	294	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AACACTGGCATTGCTCATGCC	0.542			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			33	63					0	0	1	0	0	G	88679156	T	G	88679156	3	3	206	1	0	0	0	0	1	0	0	0	10708	1493	52	5	1948	5	NTRK3	15	88679156	Missense_Mutation	SNP	T	TCGA-EL-A3T9-01A-21D-A22D-08		88679156	13852236	21	3686											
PALB2	79728	broad.mit.edu	37	chr16	23646583	23646583	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatccaaatgactctgaatGacagcctccacggctacttt	6	13	1	3			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:23646583G>T	uc002dlx.1	-	3	1484	c.1284C>A	c.(1282-1284)gtC>gtA	p.V428V		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	428					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GACTCTGAATGACAGCCTCCA	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					3	85					0	0	1	0	0	T	23646583	G	T	23646583	2	4	206	1	0	0	0	0	0	0	0	1	11406	1277	45	4		4	PALB2	16	23646583	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		23646583	66708170	22	3687											
ITGAL	3683	broad.mit.edu	37	chr16	30510706	30510706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcagctggatggccacCggaccagaagacgggggttg	16	11	1	2			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:30510706C>T	uc002dyi.4	+	16	2217	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	ITGAL_uc002dyj.4_Missense_Mutation_p.R598W|ITGAL_uc010vev.2_Missense_Mutation_p.R77W	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	681					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.R681Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGATGGCCACCGGACCAGAAG	0.537													57	185					0	0	1	0	0	T	30510706	C	T	30510706	3	4	206	1	0	0	0	0	1	0	0	0	7886	643	23	1	2107	1	ITGAL	16	30510706	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	6864123	30510706	59844047	23	3688											
ELMO3	79767	broad.mit.edu	37	chr16	67237636	67237636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgagcagacacggctGgacctggagcagctgctgac	16	12	0	2			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:67237636G>A	uc002esa.3	+	19	2221	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	ELMO3_uc002esb.3_Silent_p.L709L|ELMO3_uc002esc.3_Silent_p.L560L|MIR328_uc010vjf.1_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	673					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGACACGGCTGGACCTGGAGC	0.672													4	139					0	0	1	0	0	A	67237636	G	A	67237636	2	1	206	1	0	0	0	0	0	0	0	1	5067	1335	47	2		2	ELMO3	16	67237636	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	36726930	67237636	23117117	24	3689											
CAPS	828	broad.mit.edu	37	chr19	5915243	5915243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcccaggtcacactggcGgaattccaggactactacag	10	12	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:5915243G>A	uc002mdt.3	+	4	630	c.480G>A	c.(478-480)gcG>gcA	p.A160A	CAPS_uc002mdu.3_Silent_p.A133A	NM_004058	NP_004049	Q13938	CAYP1_HUMAN	Homo sapiens calcyphosine (CAPS), transcript variant 1, mRNA.	160	EF-hand 4.				intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						TCACACTGGCGGAATTCCAGG	0.667													18	37					0	0	1	0	0	A	5915243	G	A	5915243	2	1	206	1	0	0	0	0	0	0	0	1	2637	1103	39	1		1	CAPS	19	5915243	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		5915243	53213740	25	3690											
ZNF414	84330	broad.mit.edu	37	chr19	8576745	8576745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctcggtccagggccggGggtggcggcggggctgggct	23	11	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:8576745G>A	uc002mke.4	-	4	748	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF414_uc010dwf.3_Silent_p.P199P|ZNF414_uc002mkf.3_Silent_p.P210P	NM_001146175	NP_001139647	Q96IQ9	ZN414_HUMAN	Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CCAGGGCCGGGGGTGGCGGCG	0.726													3	5					0	0	1	0	0	A	8576745	G	A	8576745	2	1	206	1	0	0	0	0	0	0	0	1	17888	1219	43	2		2	ZNF414	19	8576745	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	2661502	8576745	50552238	26	3691											
MEF2B	100271849	broad.mit.edu	37	chr19	19258532	19258532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggggtcggggcaaggccGgatcacccccttcgcctgcc	15	17	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:19258532G>A	uc002nll.2	-	3	482	c.368C>T	c.(367-369)cCg>cTg	p.P123L	MEF2B_uc010xqo.1_Missense_Mutation_p.P123L|MEF2B_uc002nlp.2_Missense_Mutation_p.P123L|MEF2B_uc010xqp.1_Missense_Mutation_p.P123L|MEF2B_uc002nlo.2_Missense_Mutation_p.P123L|MEF2B_uc002nlk.2_Missense_Mutation_p.P126L	NM_001145785	NP_001139257			Homo sapiens myocyte enhancer factor 2B (MEF2B), mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGGCAAGGCCGGATCACCCCC	0.627													3	114					0	0	1	0	0	A	19258532	G	A	19258532	3	1	206	1	0	0	0	0	1	0	0	0	9456	1116	39	1	762	1	MEF2B	19	19258532	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	10681787	19258532	39870451	27	3692											
COL20A1	57642	broad.mit.edu	37	chr20	61941834	61941834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctatgagggcggggttggCgaaggcctgcggggcctggt	20	8	1	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr20:61941834C>T	uc011aau.2	+	10	1465	c.1365C>T	c.(1363-1365)ggC>ggT	p.G455G	COL20A1_uc011aav.2_Silent_p.G276G	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	455	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGGGGTTGGCGAAGGCCTGC	0.687													3	12					0	0	1	0	0	T	61941834	C	T	61941834	2	4	206	1	0	0	0	0	0	0	0	1	3679	755	27	1		1	COL20A1	20	61941834	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		61941834	1083686	28	3693											
TMEM50B	757	broad.mit.edu	37	chr21	34839360	34839360	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaccacatgtgtgaaaggCatggttcaactgttctggct	10	9	2	1			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr21:34839360C>A	uc002yrs.2	-	2		c.382G>T			TMEM50B_uc010gmb.2_Non-coding_Transcript	NM_006134		P56557	TM50B_HUMAN	Homo sapiens transmembrane protein 50B (TMEM50B), transcript variant 1, mRNA.							endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						GTGTGAAAGGCATGGTTCAAC	0.368													3	101					0	0	1	0	0	A	34839360	C	A	34839360	1	1	206	0	1	0	0	0	0	0	0	0	16173	710	25	4		4	TMEM50B	21	34839360	RNA	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		34839360	13290535	29	3694											
COL6A2	1292	broad.mit.edu	37	chr21	47532397	47532397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgggacatcgccagcaCgccgcacgagctctaccgca	11	18	1	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr21:47532397C>T	uc002zia.1	+	2	702	c.620C>T	c.(619-621)aCg>aTg	p.T207M	COL6A2_uc002zhz.1_Missense_Mutation_p.T207M|COL6A2_uc002zhy.1_Missense_Mutation_p.T207M	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	207	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATCGCCAGCACGCCGCACGAG	0.662													13	26					0	0	1	0	0	T	47532397	C	T	47532397	3	4	206	1	0	0	0	0	1	0	0	0	3700	536	19	1	626	1	COL6A2	21	47532397	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	12693037	47532397	597498	30	3695											
SEZ6L	23544	broad.mit.edu	37	chr22	26695087	26695087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctaagatgctgacatgcAtcaatgcctccaagccgcac	9	14	1	2			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr22:26695087A>C	uc003acb.3	+	4	1496	c.1300A>C	c.(1300-1302)Atc>Ctc	p.I434L	SEZ6L_uc003acd.3_Missense_Mutation_p.I434L|SEZ6L_uc011akd.2_Missense_Mutation_p.I434L|SEZ6L_uc003ace.3_Missense_Mutation_p.I434L|SEZ6L_uc011akc.2_Missense_Mutation_p.I434L|SEZ6L_uc003acc.3_Missense_Mutation_p.I434L|SEZ6L_uc003acf.1_Missense_Mutation_p.I207L|SEZ6L_uc010gvc.1_Missense_Mutation_p.I207L	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	434	Sushi 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCTGACATGCATCAATGCCTC	0.597													7	25					0	0	1	0	0	C	26695087	A	C	26695087	3	2	206	1	0	0	0	0	1	0	0	0	14143	217	8	5	1318	5	SEZ6L	22	26695087	Missense_Mutation	SNP	A	TCGA-EL-A3T9-01A-21D-A22D-08		26695087	24609479	31	3696											
ELFN2	114794	broad.mit.edu	37	chr22	37769205	37769205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccttcttgcgcagggcGtgaccggcggccatgtacac	14	13	1	1	rs148494870	by1000genomes	TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr22:37769205G>A	uc003asq.4	-	2	3156	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	ELFN2_uc021wph.1_Silent_p.H790H	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	790						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGCAGGGCGTGACCGGCGG	0.627													44	82					0	0	1	0	0	A	37769205	G	A	37769205	2	1	206	1	0	0	0	0	0	0	0	1	5058	1136	40	1		1	ELFN2	22	37769205	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	11074118	37769205	13535361	32	3697											
EFNB1	1947	broad.mit.edu	37	chrX	68060182	68060182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaggtggcattgttcgcGgctgtcggtgccggttgcgt	16	10	0	0			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chrX:68060182G>A	uc004dxe.2	+	4	1506	c.726G>A	c.(724-726)gcG>gcA	p.A242A	EFNB1_uc004dxd.4_Silent_p.A242A	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	242					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	p.A242T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CATTGTTCGCGGCTGTCGGTG	0.587													9	36					0	0	1	0	0	A	68060182	G	A	68060182	2	1	206	1	0	0	0	0	0	0	0	1	4955	1103	39	1		1	EFNB1	23	68060182	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		68060182	87210378	33	3698											
DCDC2	51473	broad.mit.edu	37	chr6	24357867	24357867	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagctggacaccttcttctCatggatgacgacgcggcgcc	12	13	2	1			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr6:24357867C>T	uc003ndx.3	-	0	414	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DCDC2_uc003ndy.3_Missense_Mutation_p.E38K|KAAG1_uc003ndz.1_5'UTR	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	38	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ACCTTCTTCTCATGGATGACG	0.642													10	43					0	0	1	0	0	T	24357867	C	T	24357867	3	4	207	1	0	0	0	0	1	0	0	0	4285	835	29	2	1358	2	DCDC2	6	24357867	Missense_Mutation	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		24357867	146757200	1	3699											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	36					0	0	1	0	0	T	140453136	A	T	140453136	3	4	207	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3TA-01A-12D-A22D-08		140453136	18685527	2	3700											
SSPO	23145	broad.mit.edu	37	chr7	149501110	149501110	+	Frame_Shift_Del	DEL	G	G	-													ctccaaccctccggcagcctGggggggtgccccgtgtgaag							TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr7:149501110delG	uc010lpk.3	+	55	8237	c.8237delG	c.(8236-8238)tggfs	p.W2746fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2749	TSP type-1 6.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGCAGCCTGGGGGGGTGCC	0.667													2	4	---	---	---	---						-	149501110	G	-	149501110	7	5	207	1	0	1	0	1	0	0	0	0	15188	1357	47	0	8464	0	SSPO	7	149501110	Frame_Shift_Del	DEL	G	TCGA-EL-A3TA-01A-12D-A22D-08	9047974	149501110	9637553	3	3701											
FLRT2	23768	broad.mit.edu	37	chr14	86089600	86089600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagtggaaatacaaccGgggccggcggaaagatgatt	14	8	0	3			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr14:86089600G>A	uc001xvr.3	+	1	2509	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	FLRT2_uc010atd.3_Missense_Mutation_p.R581Q|FLRT2_uc021rxf.1_Missense_Mutation_p.R581Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	581					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAATACAACCGGGGCCGGCGG	0.517													4	118					0	0	1	0	0	A	86089600	G	A	86089600	3	1	207	1	0	0	0	0	1	0	0	0	5939	1116	39	1	1744	1	FLRT2	14	86089600	Missense_Mutation	SNP	G	TCGA-EL-A3TA-01A-12D-A22D-08		86089600	21259940	4	3702											
NIPA1	123606	broad.mit.edu	37	chr15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-													ggctacgcgccccctccccgGccgccgccgccgccgccgcc							TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr15:23086365_23086367delGCC	uc001yvc.3	-	0	70_72	c.45_47delGGC	c.(43-48)gcggcc>gcc	p.15_16AA>A	NIPA1_uc001yvd.3_5'UTR|NIPA1_uc001yve.3_Intron	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	15					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818													3	3	---	---	---	---						-	23086367	GCC	-	23086365	7	5	207	1	0	1	0	1	0	0	0	0	10422	1203	42	0	962	0	NIPA1	15	23086365	In_Frame_Del	DEL	GCC	TCGA-EL-A3TA-01A-12D-A22D-08		23086365	79445027	5	3703											
PITPNM3	83394	broad.mit.edu	37	chr17	6367996	6367996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctccagtcagagccacCatgtcgaggggcccgtacat	10	14	2	1			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr17:6367996C>T	uc002gdd.4	-	14	2137	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	PITPNM3_uc010cln.3_Missense_Mutation_p.M626I|PITPNM3_uc010clm.3_Missense_Mutation_p.M145I|PITPNM3_uc002gdc.4_Missense_Mutation_p.M253I	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	662					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCAGAGCCACCATGTCGAGGG	0.622													8	28					0	0	1	0	0	T	6367996	C	T	6367996	3	4	207	1	0	0	0	0	1	0	0	0	11952	594	21	2	962	2	PITPNM3	17	6367996	Missense_Mutation	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		6367996	74827214	6	3704											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596319	58596319	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaggtgcgagagccacgcGaaggcctccccgcactcgcc	12	17	1	1			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr19:58596319G>A	uc010yht.1	-	6	1464	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ZSCAN18_uc002qrj.3_Silent_p.F421F|ZSCAN18_uc010yhs.1_Silent_p.F286F|ZSCAN18_uc002qrh.2_Silent_p.F422F|ZSCAN18_uc002qri.2_Silent_p.F422F|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	422					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGAGCCACGCGAAGGCCTCCC	0.716													3	8					0	0	1	0	0	A	58596319	G	A	58596319	2	1	207	1	0	0	0	0	0	0	0	1	18227	1049	37	1		1	ZSCAN18	19	58596319	Silent	SNP	G	TCGA-EL-A3TA-01A-12D-A22D-08		58596319	532664	7	3705											
PKNOX1	5316	broad.mit.edu	37	chr21	44437073	44437073	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggaattgtggtgccggCgtccgcgctgcagcagggaa	17	10	1	0			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr21:44437073C>A	uc002zcq.1	+	5	766	c.578C>A	c.(577-579)gCg>gAg	p.A193E	PKNOX1_uc002zcp.1_Missense_Mutation_p.A193E|PKNOX1_uc011aex.1_Missense_Mutation_p.A76E|PKNOX1_uc002zcr.3_Missense_Mutation_p.A193E	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	193							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GTGGTGCCGGCGTCCGCGCTG	0.512													3	53					0	0	1	0	0	A	44437073	C	A	44437073	3	1	207	1	0	0	0	0	1	0	0	0	11982	768	27	4	596	4	PKNOX1	21	44437073	Missense_Mutation	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		44437073	3692822	8	3706											
P2RY10	27334	broad.mit.edu	37	chrX	78216608	78216608	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatgcagttgcgttggtcggGatgattacagttgctgagct	14	6	0	2			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chrX:78216608G>T	uc004ede.3	+	3	960	c.591G>T	c.(589-591)ggG>ggT	p.G197G	P2RY10_uc004edf.3_Silent_p.G197G|P2RY10_uc022bzl.1_Silent_p.G197G	NM_014499	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 1, mRNA.	197						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CGTTGGTCGGGATGATTACAG	0.453													3	43					0	0	1	0	0	T	78216608	G	T	78216608	2	4	207	1	0	0	0	0	0	0	0	1	11347	1161	41	4		4	P2RY10	23	78216608	Silent	SNP	G	TCGA-EL-A3TA-01A-12D-A22D-08		78216608	77053952	9	3707											
VCAM1	7412	broad.mit.edu	37	chr1	101198093	101198093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaatcctgtggagcaggCagctccctaacggggagcta	13	11	0	0			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:101198093C>A	uc001dti.3	+	6	1866	c.1645C>A	c.(1645-1647)Cag>Aag	p.Q549K	VCAM1_uc010ouj.2_Missense_Mutation_p.Q487K|VCAM1_uc001dtj.3_Missense_Mutation_p.Q457K	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	549	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.Q549K(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGAGCAGGCAGCTCCCTAA	0.483													17	21					0	0	1	0	0	A	101198093	C	A	101198093	3	1	208	1	0	0	0	0	1	0	0	0	17134	711	25	4	1671	4	VCAM1	1	101198093	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		101198093	148052528	1	3708											
RBM15	64783	broad.mit.edu	37	chr1	110882663	110882663	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catctgtcgggttctggcagCggggatgagcgggtagcctt	17	9	2	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:110882663C>G	uc001dzl.1	+	0	719	c.636C>G	c.(634-636)agC>agG	p.S212R	RBM15_uc001dzm.1_Missense_Mutation_p.S212R|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.S212R	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	212	RRM 1.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTTCTGGCAGCGGGGATGAGC	0.602			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	38					0	0	1	0	0	G	110882663	C	G	110882663	3	3	208	1	0	0	0	0	1	0	0	0	13116	767	27	4	638	4	RBM15	1	110882663	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	9684570	110882663	138367958	2	3709											
GPN1	11321	broad.mit.edu	37	chr2	27861816	27861816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaggctttccaagatgCcttgaatcaagagactacat	8	8	1	4			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:27861816C>A	uc010ymc.2	+	8	698	c.677C>A	c.(676-678)gCc>gAc	p.A226D	GPN1_uc010ezf.3_Missense_Mutation_p.A200D|GPN1_uc010yma.2_Missense_Mutation_p.A133D|GPN1_uc010ymb.2_Missense_Mutation_p.A117D|GPN1_uc010ymd.2_Missense_Mutation_p.A107D|GPN1_uc010ezg.1_Missense_Mutation_p.A107D	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	212						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						TTCCAAGATGCCTTGAATCAA	0.443													5	67					0	0	1	0	0	A	27861816	C	A	27861816	3	1	208	1	0	0	0	0	1	0	0	0	6617	739	26	4	794	4	GPN1	2	27861816	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		27861816	215337557	3	3710											
ALMS1	7840	broad.mit.edu	37	chr2	73613087	73613089	+	In_Frame_Del	DEL	GCG	GCG	-													aggaagaggaggaggctgcaGcggcggcggcggcgaacgtg					rs13009609		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:73613087_73613089delGCG	uc002sje.1	+	0	202_204	c.91_93delGCG	c.(91-93)gcgdel	p.A35del	ALMS1_uc002sjf.1_In_Frame_Del_p.A35del	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	35	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ggaggCTGCAGCGGCGGCGGCGG	0.675													2	4	---	---	---	---						-	73613089	GCG	-	73613087	7	5	208	1	0	1	0	1	0	0	0	0	535	971	34	0	93	0	ALMS1	2	73613087	In_Frame_Del	DEL	GCG	TCGA-EL-A3TB-01A-11D-A22D-08	45751271	73613087	169586286	4	3711											
TTN	7273	broad.mit.edu	37	chr2	179399157	179399157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcctccgatgctgtcAtgcgagatttcctctctttc	10	12	2	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:179399157A>G	uc021vsy.1	-	306	94706	c.94481T>C	c.(94480-94482)aTg>aCg	p.M31494T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M25189T|TTN_uc021vta.1_Missense_Mutation_p.M25122T|TTN_uc021vtb.1_Missense_Mutation_p.M24997T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32421	Ig-like 140.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGATGCTGTCATGCGAGATTT	0.418													43	67					0	0	1	0	0	G	179399157	A	G	179399157	3	3	208	1	0	0	0	0	1	0	0	0	16732	217	8	3	5814	3	TTN	2	179399157	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08	105786070	179399157	63800216	5	3712											
PRKAR2A	5576	broad.mit.edu	37	chr3	48789079	48789079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaccagctgttcctcaTagtgtgagatgttcctcttc	7	12	4	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:48789079T>C	uc010hki.1	-	10	1395	c.1154A>G	c.(1153-1155)tAt>tGt	p.Y385C	PRKAR2A_uc003cux.1_Missense_Mutation_p.Y385C|PRKAR2A_uc003cuy.1_Missense_Mutation_p.Y363C	NM_004157	NP_004148	P13861	KAP2_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, alpha (PRKAR2A), mRNA.	385					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CTGTTCCTCATAGTGTGAGAT	0.512													11	20					0	0	1	0	0	C	48789079	T	C	48789079	3	2	208	1	0	0	0	0	1	0	0	0	12505	1406	49	3	64	3	PRKAR2A	3	48789079	Missense_Mutation	SNP	T	TCGA-EL-A3TB-01A-11D-A22D-08		48789079	149233351	6	3713											
EPHA6	285220	broad.mit.edu	37	chr3	97202876	97202876	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagattgatccctcaagaAttcgtattgagagagtcatt	10	6	2	5			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:97202876A>T	uc010how.1	+	9	2216	c.2173A>T	c.(2173-2175)Att>Ttt	p.I725F	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.I91F|EPHA6_uc003drs.4_Missense_Mutation_p.I117F|EPHA6_uc003drr.4_Missense_Mutation_p.I117F|EPHA6_uc003drt.3_Missense_Mutation_p.I117F|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	630	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCCTCAAGAATTCGTATTGA	0.378													10	17					0	0	1	0	0	T	97202876	A	T	97202876	3	4	208	1	0	0	0	0	1	0	0	0	5171	101	4	5	2279	5	EPHA6	3	97202876	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08	48413797	97202876	100819554	7	3714											
F2RL1	2150	broad.mit.edu	37	chr5	76128981	76128981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgaaccccatggggcaCtccaggaagaaggcaaacat	11	11	0	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:76128981C>T	uc003keo.3	+	1	724	c.549C>T	c.(547-549)caC>caT	p.H183H		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	183					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CCATGGGGCACTCCAGGAAGA	0.488													7	141					0	0	1	0	0	T	76128981	C	T	76128981	2	4	208	1	0	0	0	0	0	0	0	1	5344	564	20	2		2	F2RL1	5	76128981	Silent	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		76128981	104786279	8	3715											
WWC1	23286	broad.mit.edu	37	chr5	167891808	167891808	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggagttagacctgcaggcGacaagaacctggcacagcca	12	12	0	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:167891808G>A	uc011den.2	+	20	3102	c.3009G>A	c.(3007-3009)gcG>gcA	p.A1003A	WWC1_uc003lzv.3_Silent_p.A1003A|WWC1_uc003lzu.3_Silent_p.A997A|WWC1_uc003lzw.3_Silent_p.A796A|WWC1_uc010jjf.1_Silent_p.A269A	NM_001161661	NP_001155133	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 1, mRNA.	997	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCTGCAGGCGACAAGAACCT	0.612													22	41					0	0	1	0	0	A	167891808	G	A	167891808	2	1	208	1	0	0	0	0	0	0	0	1	17408	1045	37	1		1	WWC1	5	167891808	Silent	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	91762827	167891808	13023452	9	3716											
VARS	7407	broad.mit.edu	37	chr6	31760609	31760609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggaattctggctgccGgacacacgtgacaaaccagc	12	13	1	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:31760609G>A	uc003nxe.3	-	3	1009	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	196	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCTGGCTGCCGGACACACGTG	0.557													3	53					0	0	1	0	0	A	31760609	G	A	31760609	3	1	208	1	0	0	0	0	1	0	0	0	17120	1115	39	1	3316	1	VARS	6	31760609	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08		31760609	139354458	10	3717											
GRM4	2914	broad.mit.edu	37	chr6	34059809	34059809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtccgagggcaccacgcggGagaagaagtcgtagcggctg	17	10	0	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:34059809G>A	uc003oir.4	-	1	950	c.587C>T	c.(586-588)tCc>tTc	p.S196F	GRM4_uc011dsn.2_Missense_Mutation_p.S196F|GRM4_uc010jvh.3_Missense_Mutation_p.S196F|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Missense_Mutation_p.S115F|GRM4_uc011dsl.2_Missense_Mutation_p.S56F|GRM4_uc003oiq.3_Missense_Mutation_p.S63F|GRM4_uc011dsm.2_Missense_Mutation_p.S27F	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	196					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CACCACGCGGGAGAAGAAGTC	0.642													21	73					0	0	1	0	0	A	34059809	G	A	34059809	3	1	208	1	0	0	0	0	1	0	0	0	6799	1174	41	2	2187	2	GRM4	6	34059809	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	2299200	34059809	137055258	11	3718											
MUC17	140453	broad.mit.edu	37	chr7	100685167	100685167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaccagcacacctgtgacCacttcttctccaaccaattc	4	17	2	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr7:100685167C>T	uc003uxp.1	+	2	10523	c.10470C>T	c.(10468-10470)acC>acT	p.T3490T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3490	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGACCACTTCTTCTC	0.488													143	202					0	0	1	0	0	T	100685167	C	T	100685167	2	4	208	1	0	0	0	0	0	0	0	1	9974	581	21	2		2	MUC17	7	100685167	Silent	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		100685167	58453496	12	3719											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130658585	130658585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcgtcctgcaggtggcCctgggggcagggatgtgggt	21	9	0	0			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:130658585C>T	uc004bsp.1	-	2	172	c.53G>A	c.(52-54)gGg>gAg	p.G18E	ST6GALNAC6_uc004bsn.1_5'UTR|ST6GALNAC6_uc011man.1_5'UTR|ST6GALNAC6_uc004bso.1_Missense_Mutation_p.G18E|ST6GALNAC6_uc004bsq.1_5'UTR|ST6GALNAC6_uc004bsr.2_5'UTR|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	18					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCAGGTGGCCCTGGGGGCAG	0.552													42	67					0	0	1	0	0	T	130658585	C	T	130658585	3	4	208	1	0	0	0	0	1	0	0	0	15227	623	22	2	968	2	ST6GALNAC6	9	130658585	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		130658585	10554846	13	3720											
COL5A1	1289	broad.mit.edu	37	chr9	137655578	137655578	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggcccagggggctgcctgggGagcccgtaagtctgtgagct	18	11	1	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:137655578G>T	uc004cfe.3	+	19	2411	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	677	Triple-helical region.			E -> K (in Ref. 1; BAA14323).|E -> Q (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCTGCCTGGGGAGCCCGTAAG	0.592													4	81					0	0	1	0	0	T	137655578	G	T	137655578	4	4	208	1	0	0	0	0	0	1	0	0	3696	1175	41	4	2107	4	COL5A1	9	137655578	Nonsense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	6996993	137655578	3557853	14	3721											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43654323	43654323	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actagatcaattattaatatCattgtgccacttgctgaaag	6	7	2	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:43654323C>A	uc001jan.3	+	2	1157	c.822C>A	c.(820-822)atC>atA	p.I274I	CSGALNACT2_uc001jam.1_Silent_p.I274I	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	274					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTATTAATATCATTGTGCCAC	0.378													3	57					0	0	1	0	0	A	43654323	C	A	43654323	2	1	208	1	0	0	0	0	0	0	0	1	3939	816	29	4		4	CSGALNACT2	10	43654323	Silent	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		43654323	91880424	15	3722											
EIF3A	8661	broad.mit.edu	37	chr10	120797832	120797832	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtccttgtcattctcctcccGatcttgattatctctgtccc	5	15	4	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:120797832G>C	uc001ldu.3	-	19	3792	c.3646C>G	c.(3646-3648)Cgg>Ggg	p.R1216G	EIF3A_uc010qsu.2_Missense_Mutation_p.R1182G|EIF3A_uc009xzg.1_Missense_Mutation_p.R255G	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1216	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ttctcctcccgatcttgatta	0.483													3	82					0	0	1	0	0	C	120797832	G	C	120797832	3	2	208	1	0	0	0	0	1	0	0	0	5012	1057	37	4	514	4	EIF3A	10	120797832	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	77143509	120797832	14736915	16	3723											
TCP11L1	55346	broad.mit.edu	37	chr11	33087532	33087532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcaagatgattgtgaagAttttgctaacagatatgcac	8	6	1	5			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:33087532A>G	uc001mud.3	+	7	1529	c.1129A>G	c.(1129-1131)Att>Gtt	p.I377V	TCP11L1_uc009yju.3_Missense_Mutation_p.I192V|TCP11L1_uc010rei.2_Missense_Mutation_p.I377V|TCP11L1_uc001mue.3_Missense_Mutation_p.I377V|TCP11L1_uc001muf.1_Non-coding_Transcript	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	377										kidney(1)|liver(2)|lung(2)|skin(1)	6						GATTGTGAAGATTTTGCTAAC	0.542											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	143					0	0	1	0	0	G	33087532	A	G	33087532	3	3	208	1	0	0	0	0	1	0	0	0	15711	333	12	3	1155	3	TCP11L1	11	33087532	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08		33087532	101918984	17	3724											
CASP5	838	broad.mit.edu	37	chr11	104879560	104879560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtcgacttttgatccGtattaggtactagggtctgg	12	8	1	1			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:104879560G>A	uc010ruz.1	-	1	226	c.194C>T	c.(193-195)aCg>aTg	p.T65M	CASP5_uc010rva.1_Missense_Mutation_p.T52M|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	52	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.H65Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTTTTGATCCGTATTAGGTAC	0.373													6	66					0	0	1	0	0	A	104879560	G	A	104879560	3	1	208	1	0	0	0	0	1	0	0	0	2674	1145	40	1	1181	1	CASP5	11	104879560	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	71792028	104879560	30126956	18	3725											
FEZ1	9638	broad.mit.edu	37	chr11	125359608	125359608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggggcttctcctccggGtcctccgagcaggagggtcg	15	14	1	0			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:125359608G>A	uc001qbx.3	-	1	301	c.66C>T	c.(64-66)gaC>gaT	p.D22D	FEZ1_uc010sbc.2_Silent_p.D22D|FEZ1_uc001qby.2_Silent_p.D22D|FEZ1_uc021qrv.1_Silent_p.D22D	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA.	22					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCTCCTCCGGGTCCTCCGAGC	0.542													44	71					0	0	1	0	0	A	125359608	G	A	125359608	2	1	208	1	0	0	0	0	0	0	0	1	5823	1252	44	2		2	FEZ1	11	125359608	Silent	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	20480048	125359608	9646908	19	3726											
ZNF609	23060	broad.mit.edu	37	chr15	64966384	64966384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taataagcggaaaaacaaacCcctttcagacatggagctga	8	9	1	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr15:64966384C>A	uc002ann.3	+	3	1331	c.1331C>A	c.(1330-1332)cCc>cAc	p.P444H		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	444						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAACAAACCCCTTTCAGAC	0.562													3	74					0	0	1	0	0	A	64966384	C	A	64966384	3	1	208	1	0	0	0	0	1	0	0	0	18032	623	22	4	1345	4	ZNF609	15	64966384	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		64966384	37565008	20	3727											
PGAP3	93210	broad.mit.edu	37	chr17	37842227	37842227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaggtagagcccaacgGtgacccacatacactcatac	9	14	1	2			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:37842227G>A	uc002hsj.3	-	1	270	c.227C>T	c.(226-228)aCc>aTc	p.T76I	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010cvy.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.T76I|PGAP3_uc002hsk.3_Missense_Mutation_p.T76I|PGAP3_uc010cvz.3_Missense_Mutation_p.T76I|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	76					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGCCCAACGGTGACCCACAT	0.537													3	57					0	0	1	0	0	A	37842227	G	A	37842227	3	1	208	1	0	0	0	0	1	0	0	0	11779	1261	44	2	763	2	PGAP3	17	37842227	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08		37842227	43352983	21	3728											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150166	39150166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggaagcaggtgggcaCgcagggctgaggaatgtggc	20	7	0	1	rs146610892	byFrequency	TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:39150166C>T	uc002hvr.1	-	0	220	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN	Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.	62						keratin filament	structural molecule activity	p.V62M(2)|p.C61C(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGTGGGCACGCAGGGCTGA	0.632													41	46					0	0	1	0	0	T	39150166	C	T	39150166	3	4	208	1	0	0	0	0	1	0	0	0	8547	536	19	1	116	1	KRTAP3-3	17	39150166	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	1307939	39150166	42045044	22	3729											
DCC	1630	broad.mit.edu	37	chr18	50734133	50734133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgattcttagcttataatCgctatggtccgggcgtctct	9	10	2	0			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr18:50734133C>T	uc002lfe.2	+	10	2423	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	DCC_uc010xdr.1_Missense_Mutation_p.R451C|DCC_uc010dpf.2_Missense_Mutation_p.R258C	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	603	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R603C(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTATAATCGCTATGGTCC	0.353													39	78					0	0	1	0	0	T	50734133	C	T	50734133	3	4	208	1	0	0	0	0	1	0	0	0	4282	884	31	1	1849	1	DCC	18	50734133	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		50734133	27343115	23	3730											
FAM131C	348487	broad.mit.edu	37	chr1	16388993	16388993	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacacacaagtgcactgaCctgccaaggatcccaacaga	10	13	0	2			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr1:16388993C>T	uc001axz.4	-	3	364	c.174_splice	c.e3+1	p.Q58_splice		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	58										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCACTGACCTGCCAAGGA	0.607													3	5					0	0	1	0	0	T	16388993	C	T	16388993	5	4	209	1	0	0	0	0	0	0	1	0	5441	521	18	2	687	2	FAM131C	1	16388993	Splice_Site	SNP	C	TCGA-EL-A3ZH-01A-31D-A23M-08		16388993	232861628	1	3731											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			57	63					0	0	1	0	0	C	115256529	T	C	115256529	3	2	209	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08	98867536	115256529	133994092	2	3732											
TYW1B	441250	broad.mit.edu	37	chr7	72093914	72093914	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccccagggacacgagctgCgcgtaggcctggagctcgtc	14	14	0	0			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr7:72093914C>A	uc011kej.2	-	13	1731	c.1572G>T	c.(1570-1572)gcG>gcT	p.A524A	TYW1B_uc011keh.1_Silent_p.A362A|TYW1B_uc011kei.2_Silent_p.A151A	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	525					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ACACGAGCTGCGCGTAGGCCT	0.527													3	19					0	0	1	0	0	A	72093914	C	A	72093914	2	1	209	1	0	0	0	0	0	0	0	1	16816	755	27	4		4	TYW1B	7	72093914	Silent	SNP	C	TCGA-EL-A3ZH-01A-31D-A23M-08		72093914	87044749	3	3733											
CCDC136	64753	broad.mit.edu	37	chr7	128445518	128445518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagagcctgatcctgaaatGcagttgttacggcagcagct	11	9	0	3			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr7:128445518G>T	uc003vnv.2	+	5	1304	c.888G>T	c.(886-888)atG>atT	p.M296I	CCDC136_uc003vnu.2_Missense_Mutation_p.M334I|CCDC136_uc003vnx.2_Missense_Mutation_p.M112I|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	296	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						ATCCTGAAATGCAGTTGTTAC	0.502													38	66					0	0	1	0	0	T	128445518	G	T	128445518	3	4	209	1	0	0	0	0	1	0	0	0	2770	1319	46	4	910	4	CCDC136	7	128445518	Missense_Mutation	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08	56351604	128445518	30693145	4	3734											
TOPORS	10210	broad.mit.edu	37	chr9	32541435	32541435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgacattaatgatgtccGtggcgatggcaattgccttg	11	8	0	2			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr9:32541435G>A	uc003zrb.3	-	2	3280	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	TOPORS_uc003zrc.3_Missense_Mutation_p.R965W	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	1030					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATGATGTCCGTGGCGATGGC	0.393													4	62					0	0	1	0	0	A	32541435	G	A	32541435	3	1	209	1	0	0	0	0	1	0	0	0	16367	1144	40	1	53	1	TOPORS	9	32541435	Missense_Mutation	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08		32541435	108671996	5	3735											
MLL	4297	broad.mit.edu	37	chr11	118362606	118362606	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttctgacagctttgttgaAttctcggactaccagccatt	8	10	2	2			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr11:118362606A>C	uc001ptb.3	+	14	4990	c.4967A>C	c.(4966-4968)aAt>aCt	p.N1656T	MLL_uc001pta.3_Missense_Mutation_p.N1653T|MLL_uc001pte.1_Non-coding_Transcript	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.	1653					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GCTTTGTTGAATTCTCGGACT	0.473			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								5	51					0	0	1	0	0	C	118362606	A	C	118362606	3	2	209	1	0	0	0	0	1	0	0	0	9620	101	4	5	5016	5	MLL	11	118362606	Missense_Mutation	SNP	A	TCGA-EL-A3ZH-01A-31D-A23M-08		118362606	16643910	6	3736											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788151	3788151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctcatcttcgcccaTgtcgcccagatcctcatccc	6	19	3	1			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr12:3788151T>C	uc010sen.1	-	5	1026	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	EFCAB4B_uc001qmj.2_Missense_Mutation_p.M152V	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	152					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTCGCCCATGTCGCCCAGA	0.532													48	74					0	0	1	0	0	C	3788151	T	C	3788151	3	2	209	1	0	0	0	0	1	0	0	0	4937	1464	51	3	1993	3	EFCAB4B	12	3788151	Missense_Mutation	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08		3788151	130063744	7	3737											
ATXN2L	11273	broad.mit.edu	37	chr16	28846948	28846948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccaggggccctgacaggcAcgccgccctctctgccaccg	11	20	1	1			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr16:28846948A>C	uc002dqy.3	+	20	2931	c.2764A>C	c.(2764-2766)Acg>Ccg	p.T922P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.T922P|ATXN2L_uc002dra.3_Missense_Mutation_p.T922P|ATXN2L_uc002drb.3_Missense_Mutation_p.T922P|ATXN2L_uc002drc.3_Missense_Mutation_p.T922P|ATXN2L_uc010vdb.2_Missense_Mutation_p.T928P|ATXN2L_uc002dre.3_Missense_Mutation_p.T922P|ATXN2L_uc002drf.3_Missense_Mutation_p.T331P|ATXN2L_uc002drg.3_Missense_Mutation_p.T205P	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	922						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGACAGGCACGCCGCCCTC	0.672													15	34					0	0	1	0	0	C	28846948	A	C	28846948	3	2	209	1	0	0	0	0	1	0	0	0	1212	159	6	5	2846	5	ATXN2L	16	28846948	Missense_Mutation	SNP	A	TCGA-EL-A3ZH-01A-31D-A23M-08		28846948	61507805	8	3738											
MED15	51586	broad.mit.edu	37	chr22	20909296	20909296	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaattggcatgcctcctcgGggcccgggacagtctctggg	16	12	1	0			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr22:20909296G>C	uc002zsp.3	+	4	392	c.312G>C	c.(310-312)cgG>cgC	p.R104R	MED15_uc002zsn.1_Silent_p.R23R|MED15_uc002zso.2_Intron|MED15_uc002zsq.3_Silent_p.R104R|MED15_uc010gso.3_Silent_p.R104R|MED15_uc002zsr.3_Silent_p.R78R|MED15_uc011ahs.2_Silent_p.R78R|MED15_uc011aht.1_Silent_p.R78R|MED15_uc002zss.3_Silent_p.R23R	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	104					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TGCCTCCTCGGGGCCCGGGAC	0.647													5	50					0	0	1	0	0	C	20909296	G	C	20909296	2	2	209	1	0	0	0	0	0	0	0	1	9433	1219	43	4		4	MED15	22	20909296	Silent	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08		20909296	30395270	9	3739											
BRCC3	79184	broad.mit.edu	37	chrX	154305462	154305462	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggttgatgccgtcagaatTgttcacattcattctgtcat	8	8	5	2			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chrX:154305462T>A	uc004fna.3	+	3	321	c.213T>A	c.(211-213)atT>atA	p.I71I	BRCC3_uc011mzz.2_Non-coding_Transcript|BRCC3_uc004fnb.3_Silent_p.I71I|BRCC3_uc011mzy.2_Silent_p.I72I	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	71					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCGTCAGAATTGTTCACATTC	0.413													20	30					0	0	1	0	0	A	154305462	T	A	154305462	2	1	209	1	0	0	0	0	0	0	0	1	1500	1800	63	5		5	BRCC3	23	154305462	Silent	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08		154305462	965098	10	3740											
ADRA2B	151	broad.mit.edu	37	chr2	96781258	96781258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccctgcccaggcccccCcttggccctgggacctctgc	9	22	2	0			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr2:96781258C>A	uc021vlh.1	-	0	631	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	211			G -> A (in dbSNP:rs9333568).		activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCAGGCCCCCCCTTGGCCCTG	0.622													13	29					0	0	1	0	0	A	96781258	C	A	96781258	3	1	210	1	0	0	0	0	1	0	0	0	338	623	22	4	716	4	ADRA2B	2	96781258	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08		96781258	146418115	1	3741											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924122	105924122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctccctatcctcttgaCgatcggcggcctctcctcac	7	18	4	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr2:105924122C>T	uc002tcq.3	-	1	721	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	TGFBRAP1_uc002tcr.4_Missense_Mutation_p.V213I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	213	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATCCTCTTGACGATCGGCGGC	0.592													13	161					0	0	1	0	0	T	105924122	C	T	105924122	3	4	210	1	0	0	0	0	1	0	0	0	15821	536	19	1	1989	1	TGFBRAP1	2	105924122	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08	9142864	105924122	137275251	2	3742											
DOCK2	1794	broad.mit.edu	37	chr5	169474617	169474617	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggattcccctccttcctgcGggtgagtttgggggtgactt	15	10	0	2			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr5:169474617G>A	uc003maf.3	+	40	4151	c.4071_splice	c.e40+1	p.R1357_splice	DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.R849_splice	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTCCTGCGGGTGAGTTTG	0.542													5	83					0	0	1	0	0	A	169474617	G	A	169474617	5	1	210	1	0	0	0	0	0	0	1	0	4687	1130	39	1	4228	1	DOCK2	5	169474617	Splice_Site	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08		169474617	11440643	3	3743											
DNAJB9	4189	broad.mit.edu	37	chr7	108213643	108213643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacatgtttgaagataTggagaaaatgttttctttta	9	2	1	5			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr7:108213643T>C	uc003vfn.3	+	2	887	c.518T>C	c.(517-519)aTg>aCg	p.M173T		NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 9 (DNAJB9), mRNA.	173					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTGAAGATATGGAGAAAATG	0.393													52	93					0	0	1	0	0	C	108213643	T	C	108213643	3	2	210	1	0	0	0	0	1	0	0	0	4627	1464	51	3	524	3	DNAJB9	7	108213643	Missense_Mutation	SNP	T	TCGA-EL-A3ZK-01A-21D-A23M-08		108213643	50925020	4	3744											
RNF148	378925	broad.mit.edu	37	chr7	122342453	122342453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccttctctgctgccaCgttgattttatgtgtaaaag	8	10	1	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr7:122342453C>T	uc003vkk.1	-	0	569	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	118	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TCTGCTGCCACGTTGATTTTA	0.483													31	271					0	0	1	0	0	T	122342453	C	T	122342453	3	4	210	1	0	0	0	0	1	0	0	0	13449	536	19	1	569	1	RNF148	7	122342453	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08	14128810	122342453	36796210	5	3745											
ADAMTS8	11095	broad.mit.edu	37	chr11	130289047	130289047	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaagttacgcagtgtaagCcccccattgtcggacacctc	9	14	0	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr11:130289047C>A	uc001qgg.4	-	1	1219	c.861G>T	c.(859-861)ggG>ggT	p.G287G		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	287	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCAGTGTAAGCCCCCCATTGT	0.557													80	184					0	0	1	0	0	A	130289047	C	A	130289047	2	1	210	1	0	0	0	0	0	0	0	1	272	726	26	4		4	ADAMTS8	11	130289047	Silent	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08		130289047	4717469	6	3746											
BICD1	636	broad.mit.edu	37	chr12	32480404	32480404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccattgcaggtagagcggGaaaaggccattcttttggcc	13	9	1	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr12:32480404G>A	uc001rku.3	+	4	1096	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	BICD1_uc001rkv.3_Missense_Mutation_p.E339K|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	339					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGTAGAGCGGGAAAAGGCCAT	0.507													31	84					0	0	1	0	0	A	32480404	G	A	32480404	3	1	210	1	0	0	0	0	1	0	0	0	1428	1175	41	2	1033	2	BICD1	12	32480404	Missense_Mutation	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08		32480404	101371491	7	3747											
ZFP36	7538	broad.mit.edu	37	chr19	39898883	39898883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaagacctggcggccccGggccaccctcctgtgcttcg	13	17	0	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:39898883G>A	uc002olh.1	+	1	583	c.525G>A	c.(523-525)ccG>ccA	p.P175P		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	175					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCGGCCCCGGGCCACCCTC	0.667													48	96					0	0	1	0	0	A	39898883	G	A	39898883	2	1	210	1	0	0	0	0	0	0	0	1	17642	1103	39	1		1	ZFP36	19	39898883	Silent	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08		39898883	19230100	8	3748											
EPS8L1	54869	broad.mit.edu	37	chr19	55594786	55594786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggacccccatacagacccGagttcttcagcggctgggag	13	13	2	1			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:55594786G>A	uc002qis.4	+	12	1359	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	EPS8L1_uc010ess.1_Missense_Mutation_p.E401K|EPS8L1_uc010est.1_Missense_Mutation_p.E419K|EPS8L1_uc010yfr.2_Missense_Mutation_p.E355K|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.E292K|EPS8L1_uc002qiv.3_Missense_Mutation_p.E65K|EPS8L1_uc002qiw.3_Missense_Mutation_p.E166K	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	419						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATACAGACCCGAGTTCTTCAG	0.672													3	17					0	0	1	0	0	A	55594786	G	A	55594786	3	1	210	1	0	0	0	0	1	0	0	0	5195	1059	37	1	1353	1	EPS8L1	19	55594786	Missense_Mutation	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08	15695903	55594786	3534197	9	3749											
PPEF1	5475	broad.mit.edu	37	chrX	18807364	18807364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaatggatctcctactgaAcacttaacagagcatgaatg	7	9	1	3			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chrX:18807364A>G	uc004cyq.3	+	12	1519	c.1038A>G	c.(1036-1038)gaA>gaG	p.E346E	PPEF1_uc004cyp.3_Intron|PPEF1_uc004cyr.3_Silent_p.E346E|PPEF1_uc004cys.3_Silent_p.E346E|PPEF1_uc011mja.2_Silent_p.E281E|PPEF1_uc011mjb.2_Silent_p.E290E	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	346	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTCCTACTGAACACTTAACAG	0.418													7	122					0	0	1	0	0	G	18807364	A	G	18807364	2	3	210	1	0	0	0	0	0	0	0	1	12307	40	2	3		3	PPEF1	23	18807364	Silent	SNP	A	TCGA-EL-A3ZK-01A-21D-A23M-08		18807364	136463196	10	3750											
ATP11C	286410	broad.mit.edu	37	chrX	138869347	138869347	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttactcttctatttcttttCtttggttctctactctcata	2	11	6	0	rs147128476		TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chrX:138869347C>G	uc004faz.3	-	14	1685	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R529T	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	529					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TATTTCTTTTCTTTGGTTCTC	0.348													22	59					0	0	1	0	0	G	138869347	C	G	138869347	3	3	210	1	0	0	0	0	1	0	0	0	1121	913	32	4	1939	4	ATP11C	23	138869347	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08	120061983	138869347	16401213	11	3751											
FAM162B	221303	broad.mit.edu	37	chr6	117086593	117086593	+	Frame_Shift_Del	DEL	G	G	-													ccttggggcccagaattgctGggggccccgccgctggagta							TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr6:117086593delG	uc003pxi.2	-	0	294	c.147delC	c.(145-147)cccfs	p.P49fs		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	Homo sapiens family with sequence similarity 162, member B (FAM162B), mRNA.	49						integral to membrane				large_intestine(2)|lung(4)	6						CAGAATTGCTGGGGGCCCCGC	0.771													2	4	---	---	---	---						-	117086593	G	-	117086593	7	5	211	1	0	1	0	1	0	0	0	0	5475	1335	47	0	357	0	FAM162B	6	117086593	Frame_Shift_Del	DEL	G	TCGA-EL-A3ZN-01A-11D-A23M-08		117086593	54028474	1	3752											
PGR	5241	broad.mit.edu	37	chr11	100922214	100922214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgacgtgtttgtaggaTctccatcctagaccaaacac	7	13	1	2			TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr11:100922214T>C	uc001pgh.2	-	4	3041	c.2298A>G	c.(2296-2298)agA>agG	p.R766R	PGR_uc001pgg.2_Silent_p.R147R|PGR_uc001pgi.2_Silent_p.R664R|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	766	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GTTTGTAGGATCTCCATCCTA	0.343													24	45					0	0	1	0	0	C	100922214	T	C	100922214	2	2	211	1	0	0	0	0	0	0	0	1	11805	1432	50	3		3	PGR	11	100922214	Silent	SNP	T	TCGA-EL-A3ZN-01A-11D-A23M-08		100922214	34084302	2	3753											
KIAA1683	80726	broad.mit.edu	37	chr19	18368857	18368857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggacgcagcacccctGgctggctcccatgcgcggtt	12	17	0	0			TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr19:18368857G>A	uc010ebn.2	-	3	3453	c.3237C>T	c.(3235-3237)gcC>gcT	p.A1079A	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Silent_p.A892A|KIAA1683_uc010xqe.1_Silent_p.A846A|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	1090						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCACCCCTGGCTGGCTCCC	0.657													48	123					0	0	1	0	0	A	18368857	G	A	18368857	2	1	211	1	0	0	0	0	0	0	0	1	8251	1335	47	2		2	KIAA1683	19	18368857	Silent	SNP	G	TCGA-EL-A3ZN-01A-11D-A23M-08		18368857	40760126	3	3754											
NTNG1	22854	broad.mit.edu	37	chr1	107867092	107867092	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaaccattgagctaacAgacaacatagttattacctt	5	9	0	2			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr1:107867092A>C	uc001dvh.4	+	2	1153	c.435A>C	c.(433-435)acA>acC	p.T145T	NTNG1_uc001dvc.4_Silent_p.T145T|NTNG1_uc010out.2_Silent_p.T145T|NTNG1_uc001dvf.4_Silent_p.T145T|NTNG1_uc001dvd.1_Silent_p.T145T	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	145	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTGAGCTAACAGACAACATAG	0.463													29	51					0	0	1	0	0	C	107867092	A	C	107867092	2	2	212	1	0	0	0	0	0	0	0	1	10704	175	7	5		5	NTNG1	1	107867092	Silent	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08		107867092	141383529	1	3755											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				17	28					0	0	1	0	0	T	140453136	A	T	140453136	3	4	212	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08		140453136	18685527	2	3756											
TG	7038	broad.mit.edu	37	chr8	133895206	133895207	+	Frame_Shift_Ins	INS	-	-	G													gacgcccaggggaaggaaatINSgcatggaacccggcagcaag							TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr8:133895206_133895207insG	uc003ytw.3	+	7	1078_1079	c.1037_1038insG	c.(1036-1038)atgfs	p.M346fs		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	346	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGAAGGAAATGCATGGAACCC	0.614													20	26	---	---	---	---						G	133895207	-	G	133895206	7	5	212	1	0	1	1	0	0	0	0	0	15810	1464	51	0	1067	0	TG	8	133895206	Frame_Shift_Ins	INS	-	TCGA-EL-A3ZQ-01A-11D-A23M-08		133895206	12468816	3	3757											
DIP2C	22982	broad.mit.edu	37	chr10	459978	459978	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggccagttcgtgaccacgCccagctgctctccgcgcatg	12	17	1	1			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr10:459978C>G	uc001ifp.3	-	7	1022	c.932G>C	c.(931-933)gGc>gCc	p.G311A	DIP2C_uc009xhj.1_Missense_Mutation_p.G7A	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	311						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTGACCACGCCCAGCTGCTC	0.627													27	76					0	0	1	0	0	G	459978	C	G	459978	3	3	212	1	0	0	0	0	1	0	0	0	4529	739	26	4	3858	4	DIP2C	10	459978	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08		459978	135074769	4	3758											
FOLH1	2346	broad.mit.edu	37	chr11	49208318	49208318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagttaacatacactagatCgccctgttgagatcgggaat	9	8	0	2			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr11:49208318C>T	uc001ngy.3	-	4	778	c.517G>A	c.(517-519)Gat>Aat	p.D173N	FOLH1_uc009yly.3_Missense_Mutation_p.D158N|FOLH1_uc009ylz.3_Missense_Mutation_p.D158N|FOLH1_uc001ngz.3_Missense_Mutation_p.D173N|FOLH1_uc009yma.3_5'UTR	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	173					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACACTAGATCGCCCTGTTGA	0.393													14	32					0	0	1	0	0	T	49208318	C	T	49208318	3	4	212	1	0	0	0	0	1	0	0	0	5979	884	31	1	1795	1	FOLH1	11	49208318	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08		49208318	85798198	5	3759											
ACSS3	79611	broad.mit.edu	37	chr12	81503376	81503376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacatttgttacaatgccGttgatcgtcatattgaaaat	6	6	1	2			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr12:81503376G>A	uc001szl.1	+	1	440	c.349G>A	c.(349-351)Gtt>Att	p.V117I	ACSS3_uc001szm.1_Missense_Mutation_p.V116I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	117						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTACAATGCCGTTGATCGTCA	0.323													3	26					0	0	1	0	0	A	81503376	G	A	81503376	3	1	212	1	0	0	0	0	1	0	0	0	190	1145	40	1	355	1	ACSS3	12	81503376	Missense_Mutation	SNP	G	TCGA-EL-A3ZQ-01A-11D-A23M-08		81503376	52348519	6	3760											
SMAD9	4093	broad.mit.edu	37	chr13	37453538	37453538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgcagatccggccagcGccacacgcgacagtaaatca	11	14	1	1			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr13:37453538G>A	uc001uvw.3	-	1	632	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SMAD9_uc001uvx.3_Missense_Mutation_p.R97C|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	97	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.R97C(3)|p.W96C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCGGCCAGCGCCACACGCGA	0.612													4	56					0	0	1	0	0	A	37453538	G	A	37453538	3	1	212	1	0	0	0	0	1	0	0	0	14764	1087	38	1	1138	1	SMAD9	13	37453538	Missense_Mutation	SNP	G	TCGA-EL-A3ZQ-01A-11D-A23M-08		37453538	77716340	7	3761											
UGGT2	55757	broad.mit.edu	37	chr13	96705526	96705526	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcgctgtggagcctAgtagcagccgcaccacgttc	12	15	0	0			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr13:96705526A>T	uc001vmt.3	-	0	211	c.41T>A	c.(40-42)cTa>cAa	p.L14Q	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.L14Q	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	14					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGTGGAGCCTAGTAGCAGCCG	0.687													5	11					0	0	1	0	0	T	96705526	A	T	96705526	3	4	212	1	0	0	0	0	1	0	0	0	16939	420	15	5	4665	5	UGGT2	13	96705526	Missense_Mutation	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08	59251988	96705526	18464352	8	3762											
SMCR8	140775	broad.mit.edu	37	chr17	18219366	18219366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttggcacttttgatctcaAttacttctccctgcgtatca	5	11	3	1			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:18219366A>G	uc002gsy.4	+	0	773	c.263A>G	c.(262-264)aAt>aGt	p.N88S		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	88								p.N88S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTGATCTCAATTACTTCTCC	0.507													69	111					0	0	1	0	0	G	18219366	A	G	18219366	3	3	212	1	0	0	0	0	1	0	0	0	14792	101	4	3	265	3	SMCR8	17	18219366	Missense_Mutation	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08		18219366	62975844	9	3763											
USH1G	124590	broad.mit.edu	37	chr17	72916218	72916218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcgagcgggcgctcttgCgcccatcctcggagaccttg	14	14	1	2			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:72916218C>T	uc002jme.1	-	1	896	c.713G>A	c.(712-714)cGc>cAc	p.R238H	USH1G_uc010wro.1_Missense_Mutation_p.R135H	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	238					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGCGCTCTTGCGCCCATCCTC	0.687													7	104					0	0	1	0	0	T	72916218	C	T	72916218	3	4	212	1	0	0	0	0	1	0	0	0	17032	768	27	1	680	1	USH1G	17	72916218	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08	54696852	72916218	8278992	10	3764											
POMGNT1	55624	broad.mit.edu	37	chr1	46663383	46663383	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctctatacctgacagaaTctccgcagggcccgctggtt	9	14	2	2			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr1:46663383T>C	uc001cpg.3	-	1	762	c.111A>G	c.(109-111)agA>agG	p.R37R	POMGNT1_uc010olx.2_5'Flank|POMGNT1_uc010oly.2_5'Flank|POMGNT1_uc010olz.2_5'Flank|POMGNT1_uc001cpe.3_Silent_p.R37R|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cpj.3_Silent_p.R37R	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	37					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CCTGACAGAATCTCCGCAGGG	0.602													31	76					0	0	1	0	0	C	46663383	T	C	46663383	2	2	213	1	0	0	0	0	0	0	0	1	12243	1432	50	3		3	POMGNT1	1	46663383	Silent	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		46663383	202587238	1	3765											
EPC2	26122	broad.mit.edu	37	chr2	149528907	149528907	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgaacaataaaagagtTtctgcagcatctgtagcttt	8	7	2	2			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr2:149528907T>G	uc010zbt.2	+	9	1698	c.1671T>G	c.(1669-1671)gtT>gtG	p.V557V		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	557					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATAAAAGAGTTTCTGCAGCAT	0.383													19	76					0	0	1	0	0	G	149528907	T	G	149528907	2	3	213	1	0	0	0	0	0	0	0	1	5161	1828	64	5		5	EPC2	2	149528907	Silent	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		149528907	93670466	2	3766											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998675	8998675	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtcgaacgtcatccTtattttcacggtcttctcaa	7	12	4	0			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr8:8998675T>G	uc003wsn.4	-	1	652	c.487A>C	c.(487-489)Agg>Cgg	p.R163R	PPP1R3B_uc003wso.4_Silent_p.R163R|PPP1R3B_uc022arp.1_Silent_p.R163R	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	163	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AACGTCATCCTTATTTTCACG	0.512													80	84					0	0	1	0	0	G	8998675	T	G	8998675	2	3	213	1	0	0	0	0	0	0	0	1	12372	1608	56	5		5	PPP1R3B	8	8998675	Silent	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		8998675	137365347	3	3767											
BNC2	54796	broad.mit.edu	37	chr9	16436472	16436472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagtgagtaaacttcTataaaatggaggaactggtt	11	6	1	1			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr9:16436472T>C	uc003zml.3	-	5	1860	c.1720A>G	c.(1720-1722)Aga>Gga	p.R574G	BNC2_uc011lmw.2_Missense_Mutation_p.R479G|BNC2_uc003zmm.3_Missense_Mutation_p.R532G|BNC2_uc003zmq.1_Missense_Mutation_p.R588G|BNC2_uc003zmr.1_Missense_Mutation_p.R611G|BNC2_uc003zmp.1_Missense_Mutation_p.R602G|BNC2_uc010mij.1_Missense_Mutation_p.R496G|BNC2_uc011lmv.2_Missense_Mutation_p.R400G|BNC2_uc003zmo.1_Missense_Mutation_p.R496G|BNC2_uc003zmj.3_Missense_Mutation_p.R339G|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R339G|BNC2_uc003zmn.1_Missense_Mutation_p.R339G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	574	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGTAAACTTCTATAAAATGGA	0.507													30	62					0	0	1	0	0	C	16436472	T	C	16436472	3	2	213	1	0	0	0	0	1	0	0	0	1475	1530	53	3	1587	3	BNC2	9	16436472	Missense_Mutation	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		16436472	124776959	4	3768											
ABO	28	broad.mit.edu	37	chr9	136131223	136131223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctctcgtcgtgccacaCggcctcgatgccgttggcct	13	15	1	0			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr9:136131223C>T	uc004cda.1	-	7	917	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	ABO_uc010naf.1_Missense_Mutation_p.V158M|ABO_uc011mcz.1_Missense_Mutation_p.V158M|ABO_uc010nag.1_Missense_Mutation_p.V158M	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	299					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TCGTGCCACACGGCCTCGATG	0.662													18	75					0	0	1	0	0	T	136131223	C	T	136131223	3	4	213	1	0	0	0	0	1	0	0	0	97	536	19	1	173	1	ABO	9	136131223	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	119694751	136131223	5082208	5	3769											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			80	71					0	0	1	0	0	C	533874	T	C	533874	3	2	213	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		533874	134472642	6	3770											
MUC5B	727897	broad.mit.edu	37	chr11	1271213	1271213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctccacagtgctgaccaCgaaggccaccacgacaaggg	10	16	0	1			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:1271213C>A	uc001lta.3	+	30	13162	c.13103C>A	c.(13102-13104)aCg>aAg	p.T4368K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4368	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTGACCACGAAGGCCACC	0.642													133	91					0	0	1	0	0	A	1271213	C	A	1271213	3	1	213	1	0	0	0	0	1	0	0	0	9979	536	19	4	13234	4	MUC5B	11	1271213	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	737339	1271213	133735303	7	3771											
SMTNL1	219537	broad.mit.edu	37	chr11	57310279	57310279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcaggaaagcaggaaaAggcaccagccgaggacggca	15	9	1	1			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:57310279A>G	uc021qjh.1	+	0	166	c.164A>G	c.(163-165)aAg>aGg	p.K55R		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	55										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGCAGGAAAAGGCACCAGCC	0.567													3	35					0	0	1	0	0	G	57310279	A	G	57310279	3	3	213	1	0	0	0	0	1	0	0	0	14815	72	3	3	224	3	SMTNL1	11	57310279	Missense_Mutation	SNP	A	TCGA-EL-A3ZR-01A-11D-A23M-08	56039066	57310279	77696237	8	3772											
OR5B17	219965	broad.mit.edu	37	chr11	58126180	58126180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggttacacactgctgcGtagcggtcataggccattga	14	9	1	1	rs146597451		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:58126180G>A	uc010rke.2	-	0	363	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACACTGCTGCGTAGCGGTCAT	0.473													19	74					0	0	1	0	0	A	58126180	G	A	58126180	2	1	213	1	0	0	0	0	0	0	0	1	11149	1140	40	1		1	OR5B17	11	58126180	Silent	SNP	G	TCGA-EL-A3ZR-01A-11D-A23M-08	815901	58126180	76880336	9	3773											
PLCB3	5331	broad.mit.edu	37	chr11	64028911	64028911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgccactgaggagatgTccacgcttgtcaactacatc	9	11	1	3			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:64028911T>G	uc009ypi.3	+	14	1898	c.1771T>G	c.(1771-1773)Tcc>Gcc	p.S591A	PLCB3_uc009ypg.2_Missense_Mutation_p.S591A|PLCB3_uc009yph.2_Missense_Mutation_p.S524A	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	591	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGAGGAGATGTCCACGCTTGT	0.607													11	120					0	0	1	0	0	G	64028911	T	G	64028911	3	3	213	1	0	0	0	0	1	0	0	0	12029	1667	58	5	1829	5	PLCB3	11	64028911	Missense_Mutation	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08	5902731	64028911	70977605	10	3774											
RFXAP	5994	broad.mit.edu	37	chr13	37399626	37399626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatcttttggggatcgtcCtgcaagacctactcttttag	10	9	2	1			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:37399626C>A	uc001uvu.1	+	1	818	c.662C>A	c.(661-663)cCt>cAt	p.P221H		NM_000538	NP_000529	O00287	RFXAP_HUMAN	Homo sapiens regulatory factor X-associated protein (RFXAP), mRNA.	221	C-terminal domain.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GGGGATCGTCCTGCAAGACCT	0.308													18	30					0	0	1	0	0	A	37399626	C	A	37399626	3	1	213	1	0	0	0	0	1	0	0	0	13270	681	24	4	668	4	RFXAP	13	37399626	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		37399626	77770252	11	3775											
KBTBD7	84078	broad.mit.edu	37	chr13	41768119	41768120	+	Missense_Mutation	DNP	GC	GC	AG													tgctcttgaagtagggacacGcagctgctagcacgttgcga							TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:41768119_41768120GC>AG	uc001uxw.1	-	0	583_584	c.274_275GC>CT	c.(274-276)gcg>CTg	p.A92L	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	92	BTB.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTAGGGACACGCAGCTGCTAGC	0.619													8	46					0	0	1	0	0	AG	41768120	GC	AG	41768119	3	1	213	1	0	0	0	0	1	0	0	0	7998	1087	38	1	1783	1	KBTBD7	13	41768119	Missense_Mutation	DNP	GC	TCGA-EL-A3ZR-01A-11D-A23M-08	4368493	41768119	73401759	12	3776											
LRP10	26020	broad.mit.edu	37	chr14	23345001	23345001	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggagacactgtctggcCaggctgttgtgtcctaccac	12	12	1	1			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr14:23345001C>T	uc001whd.3	+	4	1397	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	LRP10_uc001whe.3_Nonsense_Mutation_p.Q158*	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	282	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACTGTCTGGCCAGGCTGTTGT	0.582													39	83					0	0	1	0	0	T	23345001	C	T	23345001	4	4	213	1	0	0	0	0	0	1	0	0	8952	595	21	2	862	2	LRP10	14	23345001	Nonsense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		23345001	84004539	13	3777											
NLRP4	147945	broad.mit.edu	37	chr19	56373475	56373475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcgtgatgacatcagGtccctctgtgatgccttgaa	9	12	3	4			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr19:56373475G>A	uc002qmd.4	+	4	2558	c.2136G>A	c.(2134-2136)agG>agA	p.R712R	NLRP4_uc002qmf.3_Silent_p.R637R|NLRP4_uc010etf.3_Silent_p.R543R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	712							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGACATCAGGTCCCTCTGTG	0.473													5	89					0	0	1	0	0	A	56373475	G	A	56373475	2	1	213	1	0	0	0	0	0	0	0	1	10479	1252	44	2		2	NLRP4	19	56373475	Silent	SNP	G	TCGA-EL-A3ZR-01A-11D-A23M-08		56373475	2755508	14	3778											
RTDR1	27156	broad.mit.edu	37	chr22	23401754	23401754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggaaagtgggcacgtgCgtctgcagggccttgcggcc	17	12	1	0			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr22:23401754C>T	uc002zwt.3	-	6	1091	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	311							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGGGCACGTGCGTCTGCAGGG	0.637													40	140					0	0	1	0	0	T	23401754	C	T	23401754	2	4	213	1	0	0	0	0	0	0	0	1	13719	755	27	1		1	RTDR1	22	23401754	Silent	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		23401754	27902812	15	3779											
MAP3K15	389840	broad.mit.edu	37	chrX	19389610	19389610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggatcccaatgatttgCttgatgtgtccaactgagag	10	9	1	3			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chrX:19389610C>T	uc022btq.1	-	22	3147	c.3147G>A	c.(3145-3147)aaG>aaA	p.K1049K	MAP3K15_uc004czj.2_Silent_p.K484K|MAP3K15_uc004czk.2_Silent_p.K524K|MAP3K15_uc004czi.2_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1049							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAATGATTTGCTTGATGTGTC	0.478													42	59					0	0	1	0	0	T	19389610	C	T	19389610	2	4	213	1	0	0	0	0	0	0	0	1	9249	796	28	2		2	MAP3K15	23	19389610	Silent	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		19389610	135880950	16	3780											
PCDH11X	27328	broad.mit.edu	37	chrX	91090988	91090988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaaatatactctcccagCggctgttgatcctgacgtag	8	12	2	2			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chrX:91090988C>T	uc004efk.2	+	0	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_uc004efl.2_Missense_Mutation_p.A162V|PCDH11X_uc010nmv.2_Missense_Mutation_p.A162V|PCDH11X_uc004efm.2_Missense_Mutation_p.A162V|PCDH11X_uc004efn.2_Missense_Mutation_p.A162V|PCDH11X_uc004efo.2_Missense_Mutation_p.A162V|PCDH11X_uc004efh.2_Missense_Mutation_p.A162V|PCDH11X_uc004efj.1_Missense_Mutation_p.A162V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	162	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343													5	52					0	0	1	0	0	T	91090988	C	T	91090988	3	4	213	1	0	0	0	0	1	0	0	0	11508	768	27	1	487	1	PCDH11X	23	91090988	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	71701378	91090988	64179572	17	3781											
WNT3A	89780	broad.mit.edu	37	chr1	228210473	228210473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcttctgcaggaactaCgtggagatcatgcccagcgt	11	13	2	1			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr1:228210473C>T	uc001hrp.2	+	1	284	c.177C>T	c.(175-177)taC>taT	p.Y59Y	WNT3A_uc001hrq.2_Silent_p.Y59Y	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	59					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	p.Y59Y(2)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCAGGAACTACGTGGAGATCA	0.652													14	28					0	0	1	0	0	T	228210473	C	T	228210473	2	4	214	1	0	0	0	0	0	0	0	1	17386	547	19	1		1	WNT3A	1	228210473	Silent	SNP	C	TCGA-EL-A3ZT-01A-12D-A23M-08		228210473	21040148	1	3782											
PTPN4	5775	broad.mit.edu	37	chr2	120677714	120677715	+	Missense_Mutation	DNP	GC	GC	CA													catgtaaaaatttgtggaaaGcatgtgtagaacatcacaca							TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr2:120677714_120677715GC>CA	uc002tmf.1	+	11	1669_1670	c.898_899GC>CA	c.(898-900)gca>CAa	p.A300Q	PTPN4_uc010flj.1_Missense_Mutation_p.A13Q	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	300	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTGTGGAAAGCATGTGTAGAA	0.337													64	77					0	0	1	0	0	CA	120677715	GC	CA	120677714	3	2	214	1	0	0	0	0	1	0	0	0	12790	971	34	4	940	4	PTPN4	2	120677714	Missense_Mutation	DNP	GC	TCGA-EL-A3ZT-01A-12D-A23M-08		120677714	122521659	2	3783											
TRIO	7204	broad.mit.edu	37	chr5	14492733	14492733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgacacacgattacacgGcagtgaaggaggatgagatc	14	7	0	3			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr5:14492733G>A	uc003jff.3	+	48	7696	c.7690G>A	c.(7690-7692)Gca>Aca	p.A2564T	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2564	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGATTACACGGCAGTGAAGGA	0.517													13	31					0	0	1	0	0	A	14492733	G	A	14492733	3	1	214	1	0	0	0	0	1	0	0	0	16549	1203	42	2	7884	2	TRIO	5	14492733	Missense_Mutation	SNP	G	TCGA-EL-A3ZT-01A-12D-A23M-08		14492733	166422527	3	3784											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				49	76					0	0	1	0	0	T	140453136	A	T	140453136	3	4	214	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZT-01A-12D-A23M-08		140453136	18685527	4	3785											
UTP20	27340	broad.mit.edu	37	chr12	101777048	101777048	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccagaagctgtcccggaTtgcaaaactggaagctgctt	11	10	0	1			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr12:101777048T>G	uc001tia.1	+	58	8042	c.7886T>G	c.(7885-7887)aTt>aGt	p.I2629S		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2629					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.R2628W(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTGTCCCGGATTGCAAAACTG	0.493													5	63					0	0	1	0	0	G	101777048	T	G	101777048	3	3	214	1	0	0	0	0	1	0	0	0	17096	1493	52	5	8120	5	UTP20	12	101777048	Missense_Mutation	SNP	T	TCGA-EL-A3ZT-01A-12D-A23M-08		101777048	32074847	5	3786											
MED13L	23389	broad.mit.edu	37	chr12	116413488	116413488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagctctgtctgcttgTctttgattggggccaatata	9	11	3	1			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr12:116413488T>C	uc001tvw.3	-	23	5475	c.5420A>G	c.(5419-5421)gAc>gGc	p.D1807G		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1807					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTCTGCTTGTCTTTGATTGG	0.488													6	61					0	0	1	0	0	C	116413488	T	C	116413488	3	2	214	1	0	0	0	0	1	0	0	0	9431	1667	58	3	1244	3	MED13L	12	116413488	Missense_Mutation	SNP	T	TCGA-EL-A3ZT-01A-12D-A23M-08	14636440	116413488	17438407	6	3787											
SOLH	6650	broad.mit.edu	37	chr16	601310	601310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgccacacaggttcctcaTgggtgcctcctgtggcgggg	14	13	2	0			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr16:601310T>C	uc002chi.3	+	7	2438	c.2075T>C	c.(2074-2076)aTg>aCg	p.M692T	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	692	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				AGGTTCCTCATGGGTGCCTCC	0.682													14	24					0	0	1	0	0	C	601310	T	C	601310	3	2	214	1	0	0	0	0	1	0	0	0	14925	1464	51	3	2093	3	SOLH	16	601310	Missense_Mutation	SNP	T	TCGA-EL-A3ZT-01A-12D-A23M-08		601310	89753443	7	3788											
SLC12A3	6559	broad.mit.edu	37	chr16	56906569	56906569	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccttgcttttccagcGgacatttttgtccagaactt	8	11	1	1	rs149172580	byFrequency	TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr16:56906569G>A	uc002ekd.4	+	8	994	c.965_splice	c.e8-1	p.A322_splice	SLC12A3_uc010ccm.3_Splice_Site_p.A322_splice|SLC12A3_uc010ccn.3_Splice_Site_p.A321_splice	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	322					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTTTTCCAGCGGACATTTTTG	0.592													18	35					0	0	1	0	0	A	56906569	G	A	56906569	5	1	214	1	0	0	0	0	0	0	1	0	14384	1130	39	1	996	1	SLC12A3	16	56906569	Splice_Site	SNP	G	TCGA-EL-A3ZT-01A-12D-A23M-08	56305259	56906569	33448184	8	3789											
ZC3H4	23211	broad.mit.edu	37	chr19	47572495	47572495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccggcgcctggcttcggcCggcctgggggccctccctca	14	19	1	0			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr19:47572495C>A	uc002pga.4	-	13	2290	c.2252G>T	c.(2251-2253)cGg>cTg	p.R751L	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	751							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGGCTTCGGCCGGCCTGGGGG	0.677													11	17					0	0	1	0	0	A	47572495	C	A	47572495	3	1	214	1	0	0	0	0	1	0	0	0	17567	652	23	4	1667	4	ZC3H4	19	47572495	Missense_Mutation	SNP	C	TCGA-EL-A3ZT-01A-12D-A23M-08		47572495	11556488	9	3790											
TFE3	7030	broad.mit.edu	37	chrX	48896807	48896807	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcctgggcccgcattAgctgctgccgcagcaagacc	12	17	0	1			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chrX:48896807A>C	uc004dmb.3	-	2	597	c.359T>G	c.(358-360)cTa>cGa	p.L120R	TFE3_uc004dmc.3_Missense_Mutation_p.L15R|TFE3_uc004dme.1_Non-coding_Transcript	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	120					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGCCCGCATTAGCTGCTGCCG	0.657			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								8	3					0	0	1	0	0	C	48896807	A	C	48896807	3	2	214	1	0	0	0	0	1	0	0	0	15797	420	15	5	1400	5	TFE3	23	48896807	Missense_Mutation	SNP	A	TCGA-EL-A3ZT-01A-12D-A23M-08		48896807	106373753	10	3791											
RERE	473	broad.mit.edu	37	chr1	8716118	8716118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataacgagacttttttttcGgtggtttcttcttattcttc	6	8	3	1	rs139888880	byFrequency	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:8716118G>A	uc001ape.3	-	2	1049	c.239C>T	c.(238-240)cCg>cTg	p.P80L	RERE_uc001apf.3_Missense_Mutation_p.P80L|RERE_uc001aph.1_Missense_Mutation_p.P80L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	80					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P80Q(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTTTTTTTCGGTGGTTTCTT	0.443													17	255					0	0	1	0	0	A	8716118	G	A	8716118	3	1	215	1	0	0	0	0	1	0	0	0	13231	1116	39	1	4549	1	RERE	1	8716118	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08		8716118	240534503	1	3792											
PTCHD2	57540	broad.mit.edu	37	chr1	11562110	11562110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcggcaagatctactAtgacggcatgggccaggacc	16	10	1	2			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:11562110A>G	uc001ash.4	+	1	1199	c.1061A>G	c.(1060-1062)tAt>tGt	p.Y354C	PTCHD2_uc001asi.1_Missense_Mutation_p.Y354C	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	354					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AAGATCTACTATGACGGCATG	0.607													18	21					0	0	1	0	0	G	11562110	A	G	11562110	3	3	215	1	0	0	0	0	1	0	0	0	12733	449	16	3	1063	3	PTCHD2	1	11562110	Missense_Mutation	SNP	A	TCGA-EL-A4JV-01A-11D-A257-08	2845992	11562110	237688511	2	3793											
TDRD5	163589	broad.mit.edu	37	chr1	179609053	179609053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgggacatctctgttgtGtaaggatttctgaggataag	13	6	2	1			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:179609053G>A	uc010pnp.2	+	9	2118	c.1600G>A	c.(1600-1602)Gta>Ata	p.V534I	TDRD5_uc021pfm.1_Missense_Mutation_p.V534I|TDRD5_uc001gnf.2_Missense_Mutation_p.V534I|TDRD5_uc021pfn.1_Missense_Mutation_p.V534I|TDRD5_uc001gnh.2_Missense_Mutation_p.V89I	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	534	Tudor.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCTCTGTTGTGTAAGGATTTC	0.423													70	82					0	0	1	0	0	A	179609053	G	A	179609053	3	1	215	1	0	0	0	0	1	0	0	0	15730	1377	48	2	1634	2	TDRD5	1	179609053	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08	168046943	179609053	69641568	3	3794											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			29	48					0	0	1	0	0	C	533874	T	C	533874	3	2	215	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EL-A4JV-01A-11D-A257-08		533874	134472642	4	3795											
AP2A2	161	broad.mit.edu	37	chr11	981217	981217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtggtaactgcagccaCaagtctgatcaccactttag	11	10	2	1			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:981217C>T	uc001lst.2	+	5	836	c.623C>T	c.(622-624)aCa>aTa	p.T208I	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.T208I|AP2A2_uc001lsu.1_Missense_Mutation_p.T81I	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	208					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACTGCAGCCACAAGTCTGATC	0.453													4	8					0	0	1	0	0	T	981217	C	T	981217	3	4	215	1	0	0	0	0	1	0	0	0	740	478	17	2	645	2	AP2A2	11	981217	Missense_Mutation	SNP	C	TCGA-EL-A4JV-01A-11D-A257-08	447343	981217	134025299	5	3796											
ZC3H14	79882	broad.mit.edu	37	chr14	89061103	89061103	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtttccatcaccaccTctaccaatttttcttccacc	1	16	4	0			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr14:89061103T>G	uc001xxb.3	+	0	374	c.33T>G	c.(31-33)ccT>ccG	p.P11P	ZC3H14_uc001xww.3_Intron|ZC3H14_uc010twd.2_Intron|ZC3H14_uc010twe.2_Intron|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Intron|ZC3H14_uc001xxc.3_Silent_p.P9P	NM_207662	NP_997545	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 4, mRNA.	666						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CATCACCACCTCTACCAATTT	0.378													5	63					0	0	1	0	0	G	89061103	T	G	89061103	2	3	215	1	0	0	0	0	0	0	0	1	17563	1538	54	5		5	ZC3H14	14	89061103	Silent	SNP	T	TCGA-EL-A4JV-01A-11D-A257-08		89061103	18288437	6	3797											
MYH13	8735	broad.mit.edu	37	chr17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccagctcctctgtgcGctgaatggcgtccgtctcgt	10	16	2	1			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr17:10216500G>A	uc002gmk.1	-	29	4246	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1386					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617													48	78					0	0	1	0	0	A	10216500	G	A	10216500	3	1	215	1	0	0	0	0	1	0	0	0	10032	1087	38	1	1708	1	MYH13	17	10216500	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08		10216500	70978710	7	3798											
UQCRC1	7384	broad.mit.edu	37	chr3	48638425	48638425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacgccaccaccataagTgcagtcatagtggccgatga	9	14	1	1			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:48638425T>C	uc003cub.1	-	7	994	c.949A>G	c.(949-951)Act>Gct	p.T317A		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	317					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCACCATAAGTGCAGTCATAG	0.622													14	26					0	0	1	0	0	C	48638425	T	C	48638425	3	2	216	1	0	0	0	0	1	0	0	0	17016	1696	59	3	517	3	UQCRC1	3	48638425	Missense_Mutation	SNP	T	TCGA-EL-A4JW-01A-11D-A257-08		48638425	149384005	1	3799											
KIAA1257	57501	broad.mit.edu	37	chr3	128706481	128706481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttatgaaaagctcccacGtcgtctgtgaagccggcagt	11	11	1	2			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:128706481G>A	uc003elj.4	-	3	841	c.645C>T	c.(643-645)gaC>gaT	p.D215D	KIAA1257_uc003elg.1_Silent_p.D215D|KIAA1257_uc003eli.4_Silent_p.D103D	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	215										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAGCTCCCACGTCGTCTGTGA	0.428													5	64					0	0	1	0	0	A	128706481	G	A	128706481	2	1	216	1	0	0	0	0	0	0	0	1	8218	1136	40	1		1	KIAA1257	3	128706481	Silent	SNP	G	TCGA-EL-A4JW-01A-11D-A257-08	80068056	128706481	69315949	2	3800											
GPR149	344758	broad.mit.edu	37	chr3	154138835	154138835	+	Frame_Shift_Del	DEL	G	G	-													acttttactgtacctgacgaGgggttctttctgatttactc							TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:154138835delG	uc003faa.3	-	2	1716	c.1616delC	c.(1615-1617)cctfs	p.P539fs		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	539						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACCTGACGAGGGGTTCTTTC	0.368													16	16	---	---	---	---						-	154138835	G	-	154138835	7	5	216	1	0	1	0	1	0	0	0	0	6654	1000	35	0	587	0	GPR149	3	154138835	Frame_Shift_Del	DEL	G	TCGA-EL-A4JW-01A-11D-A257-08	25432354	154138835	43883595	3	3801											
FAM120B	84498	broad.mit.edu	37	chr6	170627281	170627281	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taacatcatattagctgtgtCagaccatatatcgaaagttc	6	8	2	1			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr6:170627281C>T	uc003qxp.3	+	1	911	c.803C>T	c.(802-804)tCa>tTa	p.S268L	FAM120B_uc003qxo.1_Missense_Mutation_p.S268L|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	268					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTAGCTGTGTCAGACCATATA	0.353													8	76					0	0	1	0	0	T	170627281	C	T	170627281	3	4	216	1	0	0	0	0	1	0	0	0	5417	838	29	2	805	2	FAM120B	6	170627281	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		170627281	487786	4	3802											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	48					0	0	1	0	0	T	140453136	A	T	140453136	3	4	216	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4JW-01A-11D-A257-08		140453136	18685527	5	3803											
GOT2	2806	broad.mit.edu	37	chr16	58750077	58750077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatagtgaaggctcctacaCgctcacctgaaagacaaaaa	7	12	1	3			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr16:58750077C>A	uc002eof.1	-	7	974	c.860G>T	c.(859-861)cGt>cTt	p.R287L	GOT2_uc010vim.1_Missense_Mutation_p.R244L	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	287					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCTCCTACACGCTCACCTGA	0.428													20	46					0	0	1	0	0	A	58750077	C	A	58750077	3	1	216	1	0	0	0	0	1	0	0	0	6581	536	19	4	444	4	GOT2	16	58750077	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		58750077	31604676	6	3804											
CELF5	60680	broad.mit.edu	37	chr19	3281319	3281319	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccctcacattgcccttcagCccctacagtgcctacgccca	5	20	2	0			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr19:3281319C>G	uc002lxm.3	+	5	763	c.726C>G	c.(724-726)agC>agG	p.S242R	CELF5_uc010dtj.2_Missense_Mutation_p.S242R|CELF5_uc002lxl.2_Missense_Mutation_p.S242R|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	242					mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TGCCCTTCAGCCCCTACAGTG	0.642													14	71					0	0	1	0	0	G	3281319	C	G	3281319	3	3	216	1	0	0	0	0	1	0	0	0	3219	738	26	4	748	4	CELF5	19	3281319	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		3281319	55847664	7	3805											
RPL18A	6142	broad.mit.edu	37	chr19	17973820	17973820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagtgccgccggccggCtgtcaagcagttccacgtga	13	14	1	1			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr19:17973820C>T	uc002nhp.2	+	3	457	c.422C>T	c.(421-423)gCt>gTt	p.A141V		NM_000980	NP_000971	Q02543	RL18A_HUMAN	Homo sapiens ribosomal protein L18a (RPL18A), mRNA.	141					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CGCCGGCCGGCTGTCAAGCAG	0.677													15	21					0	0	1	0	0	T	17973820	C	T	17973820	3	4	216	1	0	0	0	0	1	0	0	0	13565	797	28	2	436	2	RPL18A	19	17973820	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08	14692501	17973820	41155163	8	3806											
ARSA	410	broad.mit.edu	37	chr22	51065569	51065569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgggaggtgggagggtGgctgagggcccgggtggttc	22	6	0	1			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr22:51065569G>A	uc010hbf.3	-	1	884	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	ARSA_uc003bna.4_Intron|ARSA_uc021wsd.1_Intron|ARSA_uc021wse.1_Intron|ARSA_uc021wsf.1_Intron|ARSA_uc003bmz.4_Intron			P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 1, mRNA.	162						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GTGGGAGGGTGGCTGAGGGCC	0.701													10	25					0	0	1	0	0	A	51065569	G	A	51065569	3	1	216	1	0	0	0	0	1	0	0	0	987	1363	47	2		2	ARSA	22	51065569	Missense_Mutation	SNP	G	TCGA-EL-A4JW-01A-11D-A257-08		51065569	238997	9	3807											
PELI1	57162	broad.mit.edu	37	chr2	64323399	64323399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaagaacaccattagtggTcaagccatccatctgtccat	6	13	2	1			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr2:64323399T>C	uc002sct.4	-	5	1010	c.550A>G	c.(550-552)Acc>Gcc	p.T184A	PELI1_uc002scr.4_Missense_Mutation_p.T5A|PELI1_uc002scs.4_Missense_Mutation_p.T184A	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	184					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CCATTAGTGGTCAAGCCATCC	0.428													5	66					0	0	1	0	0	C	64323399	T	C	64323399	3	2	217	1	0	0	0	0	1	0	0	0	11721	1667	58	3	714	3	PELI1	2	64323399	Missense_Mutation	SNP	T	TCGA-EL-A4JX-01A-12D-A257-08		64323399	178875974	1	3808											
MAN1A1	4121	broad.mit.edu	37	chr6	119569448	119569448	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatattcagcaatgcccaAggtattccagagggagtatg	10	8	2	1			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr6:119569448A>C	uc003pym.1	-	5	1411	c.969T>G	c.(967-969)ccT>ccG	p.P323P	MAN1A1_uc010kei.2_Silent_p.P346P	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	323					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCAATGCCCAAGGTATTCCAG	0.343													10	29					0	0	1	0	0	C	119569448	A	C	119569448	2	2	217	1	0	0	0	0	0	0	0	1	9210	59	3	5		5	MAN1A1	6	119569448	Silent	SNP	A	TCGA-EL-A4JX-01A-12D-A257-08		119569448	51545619	2	3809											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				11	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	217	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4JX-01A-12D-A257-08		140453136	18685527	3	3810											
AGPAT6	137964	broad.mit.edu	37	chr8	41470441	41470442	+	Missense_Mutation	DNP	GC	GC	AT													tgcccacacgtctggtttgaGcgctcggaagtgaaggatcg							TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr8:41470441_41470442GC>AT	uc003xnz.2	+	7	1812_1813	c.873_874GC>AT	c.(871-876)gagcgc>gaATgc	p.R292C		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	292					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TCTGGTTTGAGCGCTCGGAAGT	0.55											OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	1	0	0	AT	41470442	GC	AT	41470441	3	1	217	1	0	0	0	0	1	0	0	0	391	962	34	2	899	2	AGPAT6	8	41470441	Missense_Mutation	DNP	GC	TCGA-EL-A4JX-01A-12D-A257-08		41470441	104893581	4	3811											
TNNT3	7140	broad.mit.edu	37	chr11	1956128	1956128	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagttcgagtttggggagaaGctgaaacgccagaaatatga	13	5	0	4			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr11:1956128G>C	uc001luu.4	+	13	872	c.660G>C	c.(658-660)aaG>aaC	p.K220N	TNNT3_uc001lun.2_Missense_Mutation_p.K116N|TNNT3_uc001luw.4_Missense_Mutation_p.K212N|TNNT3_uc001luo.4_Missense_Mutation_p.K212N|TNNT3_uc001lup.4_Missense_Mutation_p.K218N|TNNT3_uc001luq.4_Missense_Mutation_p.K212N|TNNT3_uc001lur.3_Missense_Mutation_p.K212N|TNNT3_uc010qxf.2_Missense_Mutation_p.K218N|TNNT3_uc010qxg.2_Missense_Mutation_p.K152N	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	231					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TTGGGGAGAAGCTGAAACGCC	0.612													31	108					0	0	1	0	0	C	1956128	G	C	1956128	3	2	217	1	0	0	0	0	1	0	0	0	16329	962	34	4	751	4	TNNT3	11	1956128	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08		1956128	133050388	5	3812											
GJA3	2700	broad.mit.edu	37	chr13	20716349	20716349	+	Frame_Shift_Del	DEL	G	G	-													cagcctcgtgcgcgagtggcGgggagctgctgccgacgggg							TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr13:20716349delG	uc001umx.1	-	1	1251	c.1079delC	c.(1078-1080)ccgfs	p.P360fs	GJA3_uc021rgz.1_Frame_Shift_Del_p.P360fs	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	360					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CGCGAGTGGCGGGGAGCTGCT	0.766													2	4	---	---	---	---						-	20716349	G	-	20716349	7	5	217	1	0	1	0	1	0	0	0	0	6402	1116	39	0	232	0	GJA3	13	20716349	Frame_Shift_Del	DEL	G	TCGA-EL-A4JX-01A-12D-A257-08		20716349	94453529	6	3813											
KRT9	3857	broad.mit.edu	37	chr17	39725743	39725743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctcatactcctgacGcatgtcattgagggtcttgg	12	10	3	2			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr17:39725743G>A	uc002hxe.4	-	3	1045	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	327	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.R327H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TACTCCTGACGCATGTCATTG	0.502													9	47					0	0	1	0	0	A	39725743	G	A	39725743	3	1	217	1	0	0	0	0	1	0	0	0	8501	1087	38	1	908	1	KRT9	17	39725743	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08		39725743	41469467	7	3814											
GPR4	2828	broad.mit.edu	37	chr19	46094655	46094655	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcggtctcggaagagcTcgtcatggaacaggggcgcc	16	10	2	1			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr19:46094655T>A	uc002pcm.3	-	1	1415	c.470A>T	c.(469-471)gAg>gTg	p.E157V	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.E157V	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	157						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TCGGAAGAGCTCGTCATGGAA	0.652													11	85					0	0	1	0	0	A	46094655	T	A	46094655	3	1	217	1	0	0	0	0	1	0	0	0	6694	1551	54	5	622	5	GPR4	19	46094655	Missense_Mutation	SNP	T	TCGA-EL-A4JX-01A-12D-A257-08		46094655	13034328	8	3815											
PHKA2	5256	broad.mit.edu	37	chrX	18913268	18913268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcgtacctctcgggtcgtCgaggatgggaggacataacc	13	11	1	0			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chrX:18913268C>T	uc004cyv.4	-	30	3754	c.3324G>A	c.(3322-3324)tcG>tcA	p.S1108S	PHKA2_uc010nfe.1_Silent_p.S140S|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	1108					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTCGGGTCGTCGAGGATGGGA	0.527													25	89					0	0	1	0	0	T	18913268	C	T	18913268	2	4	217	1	0	0	0	0	0	0	0	1	11844	871	31	1		1	PHKA2	23	18913268	Silent	SNP	C	TCGA-EL-A4JX-01A-12D-A257-08		18913268	136357292	9	3816											
GPR101	83550	broad.mit.edu	37	chrX	136112376	136112376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctctgttccgggcagGtctgggtggctatcttcttt	11	13	4	0			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chrX:136112376G>T	uc011mwh.2	-	0	1458	c.1458C>A	c.(1456-1458)gaC>gaA	p.D486E		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	486						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TTCCGGGCAGGTCTGGGTGGC	0.478													22	77					0	0	1	0	0	T	136112376	G	T	136112376	3	4	217	1	0	0	0	0	1	0	0	0	6622	1252	44	4	71	4	GPR101	23	136112376	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08	117199108	136112376	19158184	10	3817											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454228	114454228	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaccaagccttctctgGctgttagaaaggaggctaaa	10	8	1	2			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr1:114454228G>A	uc001eeg.3	+	3	1308	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*	DCLRE1B_uc001eeh.3_Nonsense_Mutation_p.W212*|DCLRE1B_uc001eei.3_Nonsense_Mutation_p.W212*	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	338					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTTCTCTGGCTGTTAGAAA	0.498								Other identified genes with known or suspected DNA repair function					20	45					0	0	1	0	0	A	114454228	G	A	114454228	4	1	218	1	0	0	0	0	0	1	0	0	4295	1212	42	2	1028	2	DCLRE1B	1	114454228	Nonsense_Mutation	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08		114454228	134796393	1	3818											
TGFB2	7042	broad.mit.edu	37	chr1	218610805	218610805	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgctggagcatgcccGtatttatggagttcagacac	11	9	2	1	rs142741166	by1000genomes	TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr1:218610805G>C	uc001hln.3	+	6	2505	c.1137G>C	c.(1135-1137)ccG>ccC	p.P379P	TGFB2_uc001hlm.3_Silent_p.P351P|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_001135599	NP_001129071	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 1, mRNA.	351					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	p.C379S(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GAGCATGCCCGTATTTATGGA	0.483													4	31					0	0	1	0	0	C	218610805	G	C	218610805	2	2	218	1	0	0	0	0	0	0	0	1	15815	1132	40	4		4	TGFB2	1	218610805	Silent	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08	104156577	218610805	30639816	2	3819											
ERAP2	64167	broad.mit.edu	37	chr5	96215823	96215823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttgagttaccctgctcAtgaacaaattgcactgctgg	9	9	1	2			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr5:96215823A>G	uc003kmq.3	+	1	1144	c.434A>G	c.(433-435)cAt>cGt	p.H145R	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.H145R|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.H139R|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	145					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TACCCTGCTCATGAACAAATT	0.433													9	23					0	0	1	0	0	G	96215823	A	G	96215823	3	3	218	1	0	0	0	0	1	0	0	0	5204	217	8	3	436	3	ERAP2	5	96215823	Missense_Mutation	SNP	A	TCGA-EL-A4JZ-01A-11D-A257-08		96215823	84699437	3	3820											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	42					0	0	1	0	0	T	140453136	A	T	140453136	3	4	218	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4JZ-01A-11D-A257-08		140453136	18685527	4	3821											
LRRTM3	347731	broad.mit.edu	37	chr10	68687364	68687364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttccaaggttggtcagCcttcagaacctttacttgca	7	11	2	1			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr10:68687364C>T	uc001jmz.1	+	1	1240	c.690C>T	c.(688-690)agC>agT	p.S230S	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.S230S	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	230						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGTTGGTCAGCCTTCAGAACC	0.458													28	52					0	0	1	0	0	T	68687364	C	T	68687364	2	4	218	1	0	0	0	0	0	0	0	1	9041	738	26	2		2	LRRTM3	10	68687364	Silent	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		68687364	66847383	5	3822											
SORCS3	22986	broad.mit.edu	37	chr10	106976772	106976772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgcaaacttcagccccatcGaggacggcatcaagcacgtg	10	14	2	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr10:106976772G>A	uc001kyi.1	+	18	2853	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	876	PKD.					integral to membrane	neuropeptide receptor activity	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGCCCCATCGAGGACGGCAT	0.527													11	29					0	0	1	0	0	A	106976772	G	A	106976772	3	1	218	1	0	0	0	0	1	0	0	0	14932	1059	37	1	2700	1	SORCS3	10	106976772	Missense_Mutation	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08	38289408	106976772	28557975	6	3823											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718519	1718519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtggctccggctgtgGgggctgtggctctggctgtg	20	9	1	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr11:1718519G>C	uc001lua.3	+	0	95	c.44G>C	c.(43-45)gGg>gCg	p.G15A	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	15						keratin filament		p.G15G(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCGGCTGTGGGGGCTGTGGC	0.652													40	99					0	0	1	0	0	C	1718519	G	C	1718519	3	2	218	1	0	0	0	0	1	0	0	0	8565	1232	43	4	46	4	KRTAP5-6	11	1718519	Missense_Mutation	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08		1718519	133287997	7	3824											
WRAP53	55135	broad.mit.edu	37	chr17	7592188	7592188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggagggggacccagtttcTctctccactcccctggaaac	11	15	2	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr17:7592188T>C	uc010vuh.2	+	1	377	c.222T>C	c.(220-222)tcT>tcC	p.S74S	WRAP53_uc010vui.2_Silent_p.S74S|WRAP53_uc002gip.3_Silent_p.S74S|WRAP53_uc002gir.3_Silent_p.S74S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S74S|TP53_uc010cni.1_5'Flank|TP53_uc010cnh.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.2_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	74					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ACCCAGTTTCTCTCTCCACTC	0.582													29	59					0	0	1	0	0	C	7592188	T	C	7592188	2	2	218	1	0	0	0	0	0	0	0	1	17397	1538	54	3		3	WRAP53	17	7592188	Silent	SNP	T	TCGA-EL-A4JZ-01A-11D-A257-08		7592188	73603022	8	3825											
AKT2	208	broad.mit.edu	37	chr19	40762959	40762959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctccaggtcttgatgtattCacctgaaatgaggcaggaag	11	9	2	3			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr19:40762959C>T	uc002onf.3	-	2	348	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AKT2_uc010egs.3_Missense_Mutation_p.E17K|AKT2_uc010xvj.2_5'UTR|AKT2_uc010egt.3_5'UTR|AKT2_uc010egu.2_5'UTR|AKT2_uc010xvk.1_Missense_Mutation_p.E17K	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	17	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E17K(2)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TTGATGTATTCACCTGAAATG	0.577			A		"ovarian, pancreatic "								12	39					0	0	1	0	0	T	40762959	C	T	40762959	3	4	218	1	0	0	0	0	1	0	0	0	480	835	29	2	1444	2	AKT2	19	40762959	Missense_Mutation	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		40762959	18366024	9	3826											
ZNF549	256051	broad.mit.edu	37	chr19	58049389	58049389	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcaatgtatgtgggaaAtcattccgccacaaacaaac	9	9	1	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr19:58049389A>G	uc002qpb.2	+	3	1266	c.1017A>G	c.(1015-1017)aaA>aaG	p.K339K	ZNF549_uc002qpa.2_Silent_p.K326K	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGTGGGAAATCATTCCGCC	0.428													21	45					0	0	1	0	0	G	58049389	A	G	58049389	2	3	218	1	0	0	0	0	0	0	0	1	17978	98	4	3		3	ZNF549	19	58049389	Silent	SNP	A	TCGA-EL-A4JZ-01A-11D-A257-08	17286430	58049389	1079594	10	3827											
PREX1	57580	broad.mit.edu	37	chr20	47256389	47256389	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctggatgctaatctggatCaggctccggccacggattgt	12	11	2	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr20:47256389C>T	uc002xtw.1	-	29	3842	c.3819G>A	c.(3817-3819)ctG>ctA	p.L1273L	PREX1_uc002xtv.1_Silent_p.L570L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1273					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TAATCTGGATCAGGCTCCGGC	0.552													6	105					0	0	1	0	0	T	47256389	C	T	47256389	2	4	218	1	0	0	0	0	0	0	0	1	12476	813	29	2		2	PREX1	20	47256389	Silent	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		47256389	15769131	11	3828											
NCAM2	4685	broad.mit.edu	37	chr21	22849723	22849723	+	Frame_Shift_Del	DEL	A	A	-													aagttcagattacagctgccAatagattgggatattctgaa							TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr21:22849723delA	uc002yld.2	+	14	2257	c.2008delA	c.(2008-2010)aatfs	p.N670fs	NCAM2_uc011acb.2_Frame_Shift_Del_p.N528fs	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	670	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACAGCTGCCAATAGATTGGG	0.388													14	31	---	---	---	---						-	22849723	A	-	22849723	7	5	218	1	0	1	0	1	0	0	0	0	10203	130	5	0	2066	0	NCAM2	21	22849723	Frame_Shift_Del	DEL	A	TCGA-EL-A4JZ-01A-11D-A257-08		22849723	25280172	12	3829											
CLIC2	1193	broad.mit.edu	37	chrX	154508527	154508527	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcttctggaaactgggggttCctcagcactgtctggatcaa	11	10	5	0			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chrX:154508527C>A	uc004fnf.3	-	4	743	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	CLIC2_uc010nvj.1_Nonsense_Mutation_p.E183*	NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	165	C-terminal.|Foot loop.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTGGGGGTTCCTCAGCACTG	0.423													21	42					0	0	1	0	0	A	154508527	C	A	154508527	4	1	218	1	0	0	0	0	0	1	0	0	3526	864	30	4	258	4	CLIC2	23	154508527	Nonsense_Mutation	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		154508527	762033	13	3830											
LCE1C	353133	broad.mit.edu	37	chr1	152777911	152777911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagggcacttgggggtgcacTtgggagggggctggcactgc	21	8	0	0			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr1:152777911T>A	uc001fap.1	-	1	95	c.44A>T	c.(43-45)aAg>aTg	p.K15M	LCE1C_uc021ozi.1_Missense_Mutation_p.K15M	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	15	Pro-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gggggtgcacttgggagggGG	0.607													9	20					0	0	1	0	0	A	152777911	T	A	152777911	3	1	219	1	0	0	0	0	1	0	0	0	8661	1609	56	5	316	5	LCE1C	1	152777911	Missense_Mutation	SNP	T	TCGA-EL-A4K0-01A-11D-A257-08		152777911	96472710	1	3831											
HMCN1	83872	broad.mit.edu	37	chr1	186052052	186052052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgtgttgctgagaacaCagctgggagtgccaaaaaat	13	6	0	1			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr1:186052052C>A	uc001grq.1	+	56	9072	c.8843C>A	c.(8842-8844)aCa>aAa	p.T2948K	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2948	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGAGAACACAGCTGGGAGT	0.353													9	20					0	0	1	0	0	A	186052052	C	A	186052052	3	1	219	1	0	0	0	0	1	0	0	0	7220	478	17	4	9069	4	HMCN1	1	186052052	Missense_Mutation	SNP	C	TCGA-EL-A4K0-01A-11D-A257-08	33274141	186052052	63198569	2	3832											
SETD5	55209	broad.mit.edu	37	chr3	9482327	9482327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacctactattttagacaCtattaataagactgaattgg	5	7	0	3			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr3:9482327C>T	uc003brt.3	+	7	1190	c.755C>T	c.(754-756)aCt>aTt	p.T252I	SETD5_uc003brs.1_Missense_Mutation_p.T233I|SETD5_uc003bru.3_Missense_Mutation_p.T154I|SETD5_uc003brv.3_Missense_Mutation_p.T141I|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	252								p.I252I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATTTTAGACACTATTAATAAG	0.393													5	13					0	0	1	0	0	T	9482327	C	T	9482327	3	4	219	1	0	0	0	0	1	0	0	0	14134	565	20	2	777	2	SETD5	3	9482327	Missense_Mutation	SNP	C	TCGA-EL-A4K0-01A-11D-A257-08		9482327	188540103	3	3833											
LRRC33	375387	broad.mit.edu	37	chr3	196387348	196387348	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcaagttgcggaccctcctGctgcgcgacaacaacatggg	12	13	0	0			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr3:196387348G>C	uc003fwv.3	+	2	938	c.834G>C	c.(832-834)ctG>ctC	p.L278L		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	278						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGACCCTCCTGCTGCGCGACA	0.627													34	92					0	0	1	0	0	C	196387348	G	C	196387348	2	2	219	1	0	0	0	0	0	0	0	1	8988	1306	46	4		4	LRRC33	3	196387348	Silent	SNP	G	TCGA-EL-A4K0-01A-11D-A257-08	186905021	196387348	1635082	4	3834											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	45					0	0	1	0	0	T	140453136	A	T	140453136	3	4	219	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4K0-01A-11D-A257-08		140453136	18685527	5	3835											
ARCN1	372	broad.mit.edu	37	chr11	118455289	118455289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctgaaggtgaaaccatcAtgtcctctagtatgggcaag	10	8	3	2			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr11:118455289A>G	uc009zag.3	+	5	1073	c.871A>G	c.(871-873)Atg>Gtg	p.M291V	ARCN1_uc001ptq.3_Missense_Mutation_p.M250V|ARCN1_uc010ryg.2_Missense_Mutation_p.M162V	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	250	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGAAACCATCATGTCCTCTAG	0.413													25	40					0	0	1	0	0	G	118455289	A	G	118455289	3	3	219	1	0	0	0	0	1	0	0	0	842	217	8	3	766	3	ARCN1	11	118455289	Missense_Mutation	SNP	A	TCGA-EL-A4K0-01A-11D-A257-08		118455289	16551227	6	3836											
NELL2	4753	broad.mit.edu	37	chr12	45269298	45269298	+	Frame_Shift_Del	DEL	A	A	-													cgagagccttacctgagatcAgcagccaagctttaaatagc							TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr12:45269298delA	uc001rof.3	-	0	147	c.44delT	c.(43-45)ctgfs	p.L15fs	NELL2_uc001rog.2_Intron|NELL2_uc001roh.2_Intron|NELL2_uc009zkd.2_Frame_Shift_Del_p.L15fs|NELL2_uc010skz.1_Intron|NELL2_uc010sla.1_Intron|NELL2_uc001roi.1_Intron|NELL2_uc010slb.1_Frame_Shift_Del_p.L15fs|NELL2_uc001roj.2_Intron	NM_001145109	NP_001138581	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 4, mRNA.	0					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACCTGAGATCAGCAGCCAAGC	0.557													6	13	---	---	---	---						-	45269298	A	-	45269298	7	5	219	1	0	1	0	1	0	0	0	0	10334	188	7	0	2483	0	NELL2	12	45269298	Frame_Shift_Del	DEL	A	TCGA-EL-A4K0-01A-11D-A257-08		45269298	88582597	7	3837											
GPC6	10082	broad.mit.edu	37	chr13	94482634	94482634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaccctcagtatcacttcAgtgaagactacctggaatgt	7	10	3	2			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr13:94482634A>C	uc001vlt.3	+	2	1179	c.547A>C	c.(547-549)Agt>Cgt	p.S183R	GPC6_uc010tig.1_Missense_Mutation_p.S183R|GPC6_uc001vlu.1_Missense_Mutation_p.S113R	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	183						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTATCACTTCAGTGAAGACTA	0.493													6	45					0	0	1	0	0	C	94482634	A	C	94482634	3	2	219	1	0	0	0	0	1	0	0	0	6602	188	7	5	557	5	GPC6	13	94482634	Missense_Mutation	SNP	A	TCGA-EL-A4K0-01A-11D-A257-08		94482634	20687244	8	3838											
BCKDK	10295	broad.mit.edu	37	chr16	31122082	31122082	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgggtggactttgccaGgtgaggcaagaatggctcag	17	6	1	2			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr16:31122082G>T	uc002eaw.4	+	8	1032	c.716_splice	c.e8+1	p.R239_splice	BCKDK_uc002eav.4_Splice_Site_p.R239_splice|BCKDK_uc010cai.3_Splice_Site_p.R239_splice	NM_005881	NP_005872	O14874	BCKD_HUMAN	Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	239	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						GACTTTGCCAGGTGAGGCAAG	0.577													40	57					0	0	1	0	0	T	31122082	G	T	31122082	5	4	219	1	0	0	0	0	0	0	1	0	1361	1014	35	4	742	4	BCKDK	16	31122082	Splice_Site	SNP	G	TCGA-EL-A4K0-01A-11D-A257-08		31122082	59232671	9	3839											
SSX1	6756	broad.mit.edu	37	chrX	48118021	48118021	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaataaacaggccacagacTtccaggggaatgattttgat	10	7	0	3			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chrX:48118021T>A	uc004djb.1	+	3	326	c.235T>A	c.(235-237)Ttc>Atc	p.F79I		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	79	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GGCCACAGACTTCCAGGGGAA	0.453			T	SS18	synovial sarcoma								62	94					0	0	1	0	0	A	48118021	T	A	48118021	3	1	219	1	0	0	0	0	1	0	0	0	15202	1609	56	5	245	5	SSX1	23	48118021	Missense_Mutation	SNP	T	TCGA-EL-A4K0-01A-11D-A257-08		48118021	107152539	10	3840											
KIAA1751	85452	broad.mit.edu	37	chr1	1887133	1887133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagcctggctcacctgCgggctgctcctcctcctgct	11	18	1	0			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:1887133C>T	uc009vkz.1	-	16	2192	c.2173G>A	c.(2173-2175)Gca>Aca	p.A725T	KIAA1751_uc001aim.1_Missense_Mutation_p.A725T	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	725										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGCTCACCTGCGGGCTGCTCC	0.692													13	26					0	0	1	0	0	T	1887133	C	T	1887133	3	4	220	1	0	0	0	0	1	0	0	0	8256	768	27	1	119	1	KIAA1751	1	1887133	Missense_Mutation	SNP	C	TCGA-EL-A4K2-01A-11D-A257-08		1887133	247363488	1	3841											
DNAJC11	55735	broad.mit.edu	37	chr1	6696243	6696243	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgcaggacgccccggaactGatagagcactttcaggttct	11	11	2	2			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:6696243G>C	uc001aof.2	-	14	1694	c.1588C>G	c.(1588-1590)Cag>Gag	p.Q530E	DNAJC11_uc001aog.2_Missense_Mutation_p.Q478E|DNAJC11_uc010nzu.1_Missense_Mutation_p.Q440E	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	530					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGGAACTGATAGAGCACT	0.542													17	35					0	0	1	0	0	C	6696243	G	C	6696243	3	2	220	1	0	0	0	0	1	0	0	0	4630	1299	45	4	99	4	DNAJC11	1	6696243	Missense_Mutation	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08	4809110	6696243	242554378	2	3842											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			67	103					0	0	1	0	0	C	115256529	T	C	115256529	3	2	220	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A4K2-01A-11D-A257-08	108560286	115256529	133994092	3	3843											
PDE4D	5144	broad.mit.edu	37	chr5	58511659	58511659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggagagaggtcataatcGctgtcggatcgatacaggaa	13	6	1	1			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr5:58511659G>A	uc003jsa.2	-	1	763	c.591C>T	c.(589-591)agC>agT	p.S197S	PDE4D_uc003jrx.2_Silent_p.S61S|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Silent_p.S133S|PDE4D_uc003jsb.3_Silent_p.S136S|PDE4D_uc003jsc.3_Silent_p.S133S|PDE4D_uc003jrv.2_Silent_p.S67S|PDE4D_uc003jrw.2_Silent_p.S75S|PDE4D_uc010iwi.1_Silent_p.S29S	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	197					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGTCATAATCGCTGTCGGATC	0.493													4	52					0	0	1	0	0	A	58511659	G	A	58511659	2	1	220	1	0	0	0	0	0	0	0	1	11642	1078	38	1		1	PDE4D	5	58511659	Silent	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08		58511659	122403601	4	3844											
ZNF703	80139	broad.mit.edu	37	chr8	37555481	37555481	+	Frame_Shift_Del	DEL	G	G	-													gggggcctgggcctgccgccGggcaagccccccagctccag							TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr8:37555481delG	uc003xjy.1	+	1	1259	c.1062delG	c.(1060-1062)ccgfs	p.P354fs		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	Homo sapiens zinc finger protein 703 (ZNF703), mRNA.	354	Gly-rich.				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCCTGCCGCCGGGCAAGCCCC	0.711													2	4	---	---	---	---						-	37555481	G	-	37555481	7	5	220	1	0	1	0	1	0	0	0	0	18103	1103	39	0	1068	0	ZNF703	8	37555481	Frame_Shift_Del	DEL	G	TCGA-EL-A4K2-01A-11D-A257-08		37555481	108808541	5	3845											
USP5	8078	broad.mit.edu	37	chr12	6964920	6964920	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctgcttctttacagaAagaggaggaccctgctacag	9	12	1	2			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr12:6964920A>G	uc001qri.4	+	3	297	c.238_splice	c.e3-1	p.K80_splice	USP5_uc001qrh.4_Splice_Site_p.K80_splice	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	80					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TCTTTACAGAAAGAGGAGGAC	0.577													37	48					0	0	1	0	0	G	6964920	A	G	6964920	5	3	220	1	0	0	0	0	0	0	1	0	17078	28	1	3	249	3	USP5	12	6964920	Splice_Site	SNP	A	TCGA-EL-A4K2-01A-11D-A257-08		6964920	126886975	6	3846											
UBC	7316	broad.mit.edu	37	chr12	125397369	125397369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctccacttcgagagtgaTggtcttaccagtcagggtct	12	11	3	2			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr12:125397369T>C	uc001ugs.4	-	1	1407	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.I317V|UBC_uc001ugu.1_Missense_Mutation_p.I317V|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.I317V|UBC_uc001ugw.3_Missense_Mutation_p.I165V	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	317	Ubiquitin-like 5.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCGAGAGTGATGGTCTTACCA	0.522													40	116					0	0	1	0	0	C	125397369	T	C	125397369	3	2	220	1	0	0	0	0	1	0	0	0	16839	1464	51	3	1112	3	UBC	12	125397369	Missense_Mutation	SNP	T	TCGA-EL-A4K2-01A-11D-A257-08	118432449	125397369	8454526	7	3847											
TBC1D2B	23102	broad.mit.edu	37	chr15	78305349	78305349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctccagcgccttctgcaGcaaggtctggaagtggccag	12	12	3	0			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr15:78305349G>A	uc002bcy.4	-	8	2086	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	TBC1D2B_uc010bla.3_Silent_p.L696L|TBC1D2B_uc002bda.3_Silent_p.L148L	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	696	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GCCTTCTGCAGCAAGGTCTGG	0.562													3	20					0	0	1	0	0	A	78305349	G	A	78305349	2	1	220	1	0	0	0	0	0	0	0	1	15616	962	34	2		2	TBC1D2B	15	78305349	Silent	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08		78305349	24226043	8	3848											
DNAH9	1770	broad.mit.edu	37	chr17	11827171	11827171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacaatcagaactttcaCaacgtgtctttggggcaagg	9	9	4	1			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr17:11827171C>A	uc002gne.3	+	61	11858	c.11790C>A	c.(11788-11790)caC>caA	p.H3930Q	DNAH9_uc010coo.3_Missense_Mutation_p.H3224Q|DNAH9_uc002gnf.3_Missense_Mutation_p.H242Q|DNAH9_uc010vvh.1_Missense_Mutation_p.H283Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3930	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAACTTTCACAACGTGTCTT	0.453													6	61					0	0	1	0	0	A	11827171	C	A	11827171	3	1	220	1	0	0	0	0	1	0	0	0	4608	477	17	4	12036	4	DNAH9	17	11827171	Missense_Mutation	SNP	C	TCGA-EL-A4K2-01A-11D-A257-08		11827171	69368039	9	3849											
CHEK2	11200	broad.mit.edu	37	chr22	29090097	29090097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccaacaacttcttgacaaGgtccagagctaaagcaacaa	6	11	1	2			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr22:29090097G>T	uc003adt.1	-	13	1585	c.1513C>A	c.(1513-1515)Ctt>Att	p.L505I	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.L241I|CHEK2_uc010gvh.1_Missense_Mutation_p.L371I|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adu.1_Missense_Mutation_p.L462I|CHEK2_uc003adv.1_Missense_Mutation_p.L433I|CHEK2_uc003adx.1_Missense_Mutation_p.L241I	NM_001005735	NP_001005735	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.	462					DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTTGACAAGGTCCAGAGCT	0.448			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	127					0	0	1	0	0	T	29090097	G	T	29090097	3	4	220	1	0	0	0	0	1	0	0	0	3335	1000	35	4	259	4	CHEK2	22	29090097	Missense_Mutation	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08		29090097	22214469	10	3850											
BSN	8927	broad.mit.edu	37	chr3	49689975	49689975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctacacctcgggcacctctCccacctctctgtcctcccta	5	21	2	0			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr3:49689975C>T	uc003cxe.4	+	4	3100	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	996					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCACCTCTCCCACCTCTCT	0.647													15	23					0	0	1	0	0	T	49689975	C	T	49689975	3	4	221	1	0	0	0	0	1	0	0	0	1530	855	30	2	3004	2	BSN	3	49689975	Missense_Mutation	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08		49689975	148332455	1	3851											
COL6A6	131873	broad.mit.edu	37	chr3	130284243	130284243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagcagctgttaacctccGacgggagggtgtgaccatct	12	10	1	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr3:130284243G>A	uc010htl.3	+	2	1098	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	356	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTTAACCTCCGACGGGAGGGT	0.567													56	66					0	0	1	0	0	A	130284243	G	A	130284243	3	1	221	1	0	0	0	0	1	0	0	0	3703	1058	37	1	1077	1	COL6A6	3	130284243	Missense_Mutation	SNP	G	TCGA-EL-A4K4-01A-11D-A257-08	80594268	130284243	67738187	2	3852											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	39					0	0	1	0	0	T	140453136	A	T	140453136	3	4	221	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4K4-01A-11D-A257-08		140453136	18685527	3	3853											
ADO	84890	broad.mit.edu	37	chr10	64565221	64565221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcatcagctgcatggaCaagctagacgcgggcggcgg	17	11	1	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr10:64565221C>A	uc001jmg.3	+	0	706	c.402C>A	c.(400-402)gaC>gaA	p.D134E		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.	134							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCTGCATGGACAAGCTAGACG	0.716													2	0					0	0	1	0	0	A	64565221	C	A	64565221	3	1	221	1	0	0	0	0	1	0	0	0	325	477	17	4	404	4	ADO	10	64565221	Missense_Mutation	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08		64565221	70969526	4	3854											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5624780	5624780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggccaacatagtgaggCggctcagagaggtagtgttg	15	7	2	2	rs61758093		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr11:5624780C>T	uc001mbf.3	+	1	585	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.R80W|TRIM6-TRIM34_uc010qzj.2_Intron|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.R80W|TRIM6-TRIM34_uc001mbe.3_Intron|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.R108W|TRIM6-TRIM34_uc010qzk.2_Intron|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	108						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CATAGTGAGGCGGCTCAGAGA	0.552													10	43					0	0	1	0	0	T	5624780	C	T	5624780	3	4	221	1	0	0	0	0	1	0	0	0	16531	759	27	1	328	1	TRIM6-TRIM34	11	5624780	Missense_Mutation	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08		5624780	129381736	5	3855											
NCOR2	9612	broad.mit.edu	37	chr12	124827559	124827559	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaatcacctgcgtccAgagggatgccgcggggtatg	16	11	1	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr12:124827559A>T	uc021rga.1	-	32	5066	c.4949T>A	c.(4948-4950)cTg>cAg	p.L1650Q	NCOR2_uc021rgb.1_Missense_Mutation_p.L1634Q|NCOR2_uc010tbb.2_Missense_Mutation_p.L1643Q|NCOR2_uc010tbc.2_Missense_Mutation_p.L1633Q|NCOR2_uc021rgc.1_Missense_Mutation_p.L1633Q|NCOR2_uc010tba.2_Missense_Mutation_p.L1651Q|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1651					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACCTGCGTCCAGAGGGATGCC	0.637													3	22					0	0	1	0	0	T	124827559	A	T	124827559	3	4	221	1	0	0	0	0	1	0	0	0	10236	188	7	5	2676	5	NCOR2	12	124827559	Missense_Mutation	SNP	A	TCGA-EL-A4K4-01A-11D-A257-08		124827559	9024336	6	3856											
LACTB	114294	broad.mit.edu	37	chr15	63414116	63414116	+	Frame_Shift_Del	DEL	G	G	-													ctgcccgggctgccgcccccGggggcttggcctcaagctgc					rs34925488	byFrequency	TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr15:63414116delG	uc002alw.3	+	0	118	c.46delG	c.(46-48)gggfs	p.G16fs	LACTB_uc002alv.3_Frame_Shift_Del_p.G16fs	NM_032857	NP_116246	P83111	LACTB_HUMAN	Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	16						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TGCCGCCCCCGGGGGCTTGGC	0.751													2	4	---	---	---	---						-	63414116	G	-	63414116	7	5	221	1	0	1	0	1	0	0	0	0	8597	1116	39	0	48	0	LACTB	15	63414116	Frame_Shift_Del	DEL	G	TCGA-EL-A4K4-01A-11D-A257-08		63414116	39117276	7	3857											
OR10H2	26538	broad.mit.edu	37	chr19	15839218	15839218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtcatgggctacgaccGctacgtggccatctgccacc	10	17	2	0	rs145907157		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr19:15839218G>A	uc002nbm.2	+	0	385	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGCTACGACCGCTACGTGGCC	0.647													24	40					0	0	1	0	0	A	15839218	G	A	15839218	3	1	221	1	0	0	0	0	1	0	0	0	10906	1087	38	1	367	1	OR10H2	19	15839218	Missense_Mutation	SNP	G	TCGA-EL-A4K4-01A-11D-A257-08		15839218	43289765	8	3858											
ITCH	83737	broad.mit.edu	37	chr20	33057876	33057876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatggacctcagatagcctAtgttcgggacttcaaagcaa	9	10	2	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr20:33057876A>G	uc010geu.1	+	15	1763	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	ITCH_uc002xak.2_Missense_Mutation_p.Y483C|ITCH_uc010zuj.1_Missense_Mutation_p.Y373C	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	524					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CAGATAGCCTATGTTCGGGAC	0.408													49	103					0	0	1	0	0	G	33057876	A	G	33057876	3	3	221	1	0	0	0	0	1	0	0	0	7868	449	16	3	1498	3	ITCH	20	33057876	Missense_Mutation	SNP	A	TCGA-EL-A4K4-01A-11D-A257-08		33057876	29967644	9	3859											
EMILIN3	90187	broad.mit.edu	37	chr20	39991087	39991087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagacacgctcaggccCtgcagctggctgcccagctg	12	17	1	1			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr20:39991087C>T	uc002xjy.1	-	3	1346	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	374						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CGCTCAGGCCCTGCAGCTGGC	0.672													3	21					0	0	1	0	0	T	39991087	C	T	39991087	2	4	221	1	0	0	0	0	0	0	0	1	5095	680	24	2		2	EMILIN3	20	39991087	Silent	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08	6933211	39991087	23034433	10	3860											
KIAA0754	643314	broad.mit.edu	37	chr1	39878974	39878974	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcccaccccagaggagCccacctccccagctgctgca	9	20	0	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:39878974C>G	uc009vvt.1	+	0	3799	c.3037C>G	c.(3037-3039)Ccc>Gcc	p.P1013A	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	877	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGCCCACCTCCCC	0.687													6	15					0	0	1	0	0	G	39878974	C	G	39878974	3	3	222	1	0	0	0	0	1	0	0	0	8192	739	26	4	3039	4	KIAA0754	1	39878974	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		39878974	209371647	1	3861											
MCOLN2	255231	broad.mit.edu	37	chr1	85405252	85405252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctttgctttgatttccAtttttaatatggagccaatg	6	8	1	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:85405252A>G	uc001dkm.3	-	8	1335	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	MCOLN2_uc001dkn.3_Intron	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	365			M -> V (in dbSNP:rs17117841).			integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTGATTTCCATTTTTAATAT	0.468													5	96					0	0	1	0	0	G	85405252	A	G	85405252	3	3	222	1	0	0	0	0	1	0	0	0	9396	217	8	3	630	3	MCOLN2	1	85405252	Missense_Mutation	SNP	A	TCGA-EL-A4K6-01A-12D-A257-08	45526278	85405252	163845369	2	3862											
RAP1A	5906	broad.mit.edu	37	chr1	112240072	112240072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccacagcaagttgaaGtcgattgccaacagtgtatg	10	11	0	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:112240072G>A	uc001ebi.3	+	3	240	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	RAP1A_uc001ebk.3_Missense_Mutation_p.V46I|RAP1A_uc001ebl.3_Missense_Mutation_p.V46I	NM_002884	NP_002875	P62834	RAP1A_HUMAN	Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA.	46					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GCAAGTTGAAGTCGATTGCCA	0.358													30	32					0	0	1	0	0	A	112240072	G	A	112240072	3	1	222	1	0	0	0	0	1	0	0	0	13035	1029	36	2	146	2	RAP1A	1	112240072	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	26834820	112240072	137010549	3	3863											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			84	106					0	0	1	0	0	T	115256530	G	T	115256530	3	4	222	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	3016458	115256530	133994091	4	3864											
FCRL2	79368	broad.mit.edu	37	chr1	157739926	157739926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagctggcagtcagcacagGacgttgaaagagctctagag	15	8	2	3			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:157739926G>A	uc001fre.2	-	3	384	c.325C>T	c.(325-327)Cct>Tct	p.P109S	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.P109S|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.P109S	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	109	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCAGCACAGGACGTTGAAAG	0.532													25	23					0	0	1	0	0	A	157739926	G	A	157739926	3	1	222	1	0	0	0	0	1	0	0	0	5795	1174	41	2	1237	2	FCRL2	1	157739926	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	42483396	157739926	91510695	5	3865											
FBXO11	80204	broad.mit.edu	37	chr2	48066036	48066036	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttcactgaagcgtttAcatacacaagctgctctaca	7	11	2	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:48066036A>G	uc002rwe.3	-	3	622	c.549T>C	c.(547-549)tgT>tgC	p.C183C	FBXO11_uc010fbl.3_Silent_p.C99C|FBXO11_uc002rwg.2_Silent_p.C183C|FBXO11_uc021vhe.1_5'Flank	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	183	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAGCGTTTACATACACAAG	0.368			"Mis, F, D"		DLBCL								28	27					0	0	1	0	0	G	48066036	A	G	48066036	2	3	222	1	0	0	0	0	0	0	0	1	5727	389	14	3		3	FBXO11	2	48066036	Silent	SNP	A	TCGA-EL-A4K6-01A-12D-A257-08		48066036	195133337	6	3866											
ZNF2	7549	broad.mit.edu	37	chr2	95843249	95843249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagtgacattcgaagacGttgccgtggttttcacagat	10	8	2	3			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:95843249G>A	uc002suf.3	+	2	517	c.55G>A	c.(55-57)Gtt>Att	p.V19I	ZNF2_uc002sug.3_5'UTR|ZNF2_uc010yue.2_Missense_Mutation_p.V19I|ZNF2_uc010fhs.3_5'UTR	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTCGAAGACGTTGCCGTGGT	0.443													46	130					0	0	1	0	0	A	95843249	G	A	95843249	3	1	222	1	0	0	0	0	1	0	0	0	17757	1145	40	1	61	1	ZNF2	2	95843249	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	47777213	95843249	147356124	7	3867											
TTN	7273	broad.mit.edu	37	chr2	179476842	179476842	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactttaggtcaacatgtcGttttgtcacatcaaccactg	6	12	3	0			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:179476842G>A	uc021vsy.1	-	215	42817	c.42592C>T	c.(42592-42594)Cga>Tga	p.R14198*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R7893*|TTN_uc021vta.1_Nonsense_Mutation_p.R7826*|TTN_uc021vtb.1_Nonsense_Mutation_p.R7701*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15125	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACATGTCGTTTTGTCACA	0.403													16	14					0	0	1	0	0	A	179476842	G	A	179476842	4	1	222	1	0	0	0	0	0	1	0	0	16732	1153	40	1	57781	1	TTN	2	179476842	Nonsense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	83633593	179476842	63722531	8	3868											
SCN11A	11280	broad.mit.edu	37	chr3	38889182	38889182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggacaattctgaagagcGtcggagggaaaggaatgtgc	16	6	1	2			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:38889182G>A	uc021wvy.1	-	25	4578	c.4379C>T	c.(4378-4380)aCg>aTg	p.T1460M		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1460					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTGAAGAGCGTCGGAGGGAA	0.493													17	22					0	0	1	0	0	A	38889182	G	A	38889182	3	1	222	1	0	0	0	0	1	0	0	0	13913	1145	40	1	1000	1	SCN11A	3	38889182	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		38889182	159133248	9	3869											
PFKFB4	5210	broad.mit.edu	37	chr3	48561154	48561154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccttgtcgaggaagTaggccagcaggcagcgcatc	14	12	0	0			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:48561154T>C	uc003ctv.3	-	10	1219	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C	PFKFB4_uc003ctx.3_Missense_Mutation_p.Y358C|PFKFB4_uc010hkb.3_Missense_Mutation_p.Y394C|PFKFB4_uc003ctw.3_Missense_Mutation_p.Y210C|PFKFB4_uc010hkc.3_Missense_Mutation_p.Y366C|PFKFB4_uc011bbm.2_Missense_Mutation_p.Y390C	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	401	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCGAGGAAGTAGGCCAGCAG	0.602													40	39					0	0	1	0	0	C	48561154	T	C	48561154	3	2	222	1	0	0	0	0	1	0	0	0	11763	1638	57	3	223	3	PFKFB4	3	48561154	Missense_Mutation	SNP	T	TCGA-EL-A4K6-01A-12D-A257-08	9671972	48561154	149461276	10	3870											
PITX2	5308	broad.mit.edu	37	chr4	111539567	111539567	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgagggcaccatgctggacGacatgctcatggacgagata	13	10	1	2			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr4:111539567G>C	uc003iac.3	-	2	1327	c.689C>G	c.(688-690)tCg>tGg	p.S230W	PITX2_uc003iaf.3_Missense_Mutation_p.S223W|PITX2_uc003iad.3_Missense_Mutation_p.S223W|PITX2_uc021xqr.1_Missense_Mutation_p.S223W|PITX2_uc003iae.3_Missense_Mutation_p.S177W|PITX2_uc021xqs.1_Missense_Mutation_p.S177W	NM_000325	NP_000316	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 3, mRNA.	223					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S230L(2)|p.S223L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CATGCTGGACGACATGCTCAT	0.547													32	38					0	0	1	0	0	C	111539567	G	C	111539567	3	2	222	1	0	0	0	0	1	0	0	0	11955	1059	37	4	289	4	PITX2	4	111539567	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		111539567	79614709	11	3871											
CTNND2	1501	broad.mit.edu	37	chr5	11159811	11159811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgttggtcagtactgctAgggcatcctggatgattggc	14	10	1	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:11159811A>G	uc003jfa.1	-	11	2181	c.2036T>C	c.(2035-2037)cTa>cCa	p.L679P	CTNND2_uc010itt.2_Missense_Mutation_p.L588P|CTNND2_uc011cmy.1_Missense_Mutation_p.L342P|CTNND2_uc011cmz.1_Missense_Mutation_p.L246P|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.L246P	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	679					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGTACTGCTAGGGCATCCTG	0.502													12	121					0	0	1	0	0	G	11159811	A	G	11159811	3	3	222	1	0	0	0	0	1	0	0	0	4020	420	15	3	1685	3	CTNND2	5	11159811	Missense_Mutation	SNP	A	TCGA-EL-A4K6-01A-12D-A257-08		11159811	169755449	12	3872											
TIFAB	497189	broad.mit.edu	37	chr5	134785192	134785192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagatgccttcccattcGtcagtttcctcagcctcagg	10	13	3	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:134785192G>A	uc003law.4	-	1	639	c.438C>T	c.(436-438)gaC>gaT	p.D146D	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Silent_p.D146D	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	146										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTCCCATTCGTCAGTTTCCT	0.572													42	63					0	0	1	0	0	A	134785192	G	A	134785192	2	1	222	1	0	0	0	0	0	0	0	1	15892	1136	40	1		1	TIFAB	5	134785192	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	123625381	134785192	46130068	13	3873											
CCDC129	223075	broad.mit.edu	37	chr7	31592727	31592727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagtgcaccaaaagcgCgtgggctccgctggatgagt	14	11	0	2			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:31592727C>T	uc011kae.2	+	1	179	c.167C>T	c.(166-168)gCg>gTg	p.A56V	CCDC129_uc011kad.1_Missense_Mutation_p.A40V|CCDC129_uc003tcj.1_Missense_Mutation_p.A30V|CCDC129_uc003tci.1_Missense_Mutation_p.A29V|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	30										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCAAAAGCGCGTGGGCTCCG	0.537													10	7					0	0	1	0	0	T	31592727	C	T	31592727	3	4	222	1	0	0	0	0	1	0	0	0	2764	768	27	1	91	1	CCDC129	7	31592727	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		31592727	127545936	14	3874											
ADCY1	107	broad.mit.edu	37	chr7	45688322	45688322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgctactactgcgtgtcGggcctcacccagcccaagac	10	16	1	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:45688322G>A	uc003tne.4	+	4	1092	c.1074G>A	c.(1072-1074)tcG>tcA	p.S358S	ADCY1_uc003tnd.3_Silent_p.S133S	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	358					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACTGCGTGTCGGGCCTCACCC	0.577													15	41					0	0	1	0	0	A	45688322	G	A	45688322	2	1	222	1	0	0	0	0	0	0	0	1	292	1103	39	1		1	ADCY1	7	45688322	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	14095595	45688322	113450341	15	3875											
ABP1	26	broad.mit.edu	37	chr7	150553564	150553564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggagcgagagatgccGgccctgggctgggccgtggc	20	12	0	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:150553564G>A	uc003wia.1	+	1	96	c.6G>A	c.(4-6)ccG>ccA	p.P2P	ABP1_uc003why.1_Silent_p.P2P|ABP1_uc003whz.1_Silent_p.P2P	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	2					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	p.P2P(2)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GAGAGATGCCGGCCCTGGGCT	0.607													27	35					0	0	1	0	0	A	150553564	G	A	150553564	2	1	222	1	0	0	0	0	0	0	0	1	98	1103	39	1		1	ABP1	7	150553564	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	104865242	150553564	8585099	16	3876											
PRKDC	5591	broad.mit.edu	37	chr8	48686858	48686858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcttgggcacgaatgTtgtgatctttgcttcctcgt	11	9	2	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:48686858T>C	uc003xqi.3	-	86	12317	c.12260A>G	c.(12259-12261)aAc>aGc	p.N4087S	PRKDC_uc003xqj.3_Missense_Mutation_p.N4056S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	4088					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGCACGAATGTTGTGATCTTT	0.512								Non-homologous end-joining					9	12					0	0	1	0	0	C	48686858	T	C	48686858	3	2	222	1	0	0	0	0	1	0	0	0	12521	1725	60	3	127	3	PRKDC	8	48686858	Missense_Mutation	SNP	T	TCGA-EL-A4K6-01A-12D-A257-08		48686858	97677164	17	3877											
SLA	6503	broad.mit.edu	37	chr8	134050954	134050955	+	Frame_Shift_Del	DEL	TC	TC	-													ctcgtctaccccaagcgggtTctctgttccctcggggtcct							TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:134050954_134050955delTC	uc011ljd.2	-	6	843_844	c.765_766delGA	c.(763-768)gagaacfs	p.E255fs	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Frame_Shift_Del_p.E215fs|SLA_uc011lje.2_Frame_Shift_Del_p.E232fs|SLA_uc011ljf.2_Frame_Shift_Del_p.E107fs|SLA_uc011ljg.2_Frame_Shift_Del_p.E188fs	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	215	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCAAGCGGGTTCTCTGTTCCCT	0.53													29	34	---	---	---	---						-	134050955	TC	-	134050954	7	5	222	1	0	1	0	1	0	0	0	0	14363	1783	62	0	188	0	SLA	8	134050954	Frame_Shift_Del	DEL	TC	TCGA-EL-A4K6-01A-12D-A257-08	85364096	134050954	12313068	18	3878											
ORM1	5004	broad.mit.edu	37	chr9	117086322	117086322	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccagtgcatctataacacCacctacctgaatgtccagcg	7	14	1	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr9:117086322C>G	uc004bik.4	+	2	393	c.282C>G	c.(280-282)acC>acG	p.T94T	ORM1_uc011lxo.2_Silent_p.T94T	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	94					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TCTATAACACCACCTACCTGA	0.552													30	224					0	0	1	0	0	G	117086322	C	G	117086322	2	3	222	1	0	0	0	0	0	0	0	1	11267	581	21	4		4	ORM1	9	117086322	Silent	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		117086322	24127109	19	3879											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105420865	105420865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatgggctcggcggtggcGtcggcacctggcgagggcag	19	11	1	0			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr10:105420865G>T	uc001kxj.1	-	7	620	c.480C>A	c.(478-480)gaC>gaA	p.D160E	SH3PXD2A_uc010qqr.2_Missense_Mutation_p.D22E|SH3PXD2A_uc010qqs.1_5'UTR|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.D37E|SH3PXD2A_uc009xxn.1_5'UTR|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.D75E	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	160					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGCGGTGGCGTCGGCACCTG	0.692													83	90					0	0	1	0	0	T	105420865	G	T	105420865	3	4	222	1	0	0	0	0	1	0	0	0	14256	1136	40	4	2865	4	SH3PXD2A	10	105420865	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		105420865	30113882	20	3880											
OR52A1	23538	broad.mit.edu	37	chr11	5172912	5172912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctccttctggggcaaacGaaaaactgtgataaatatct	8	9	2	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:5172912G>A	uc010qyy.2	-	0	688	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423													5	84					0	0	1	0	0	A	5172912	G	A	5172912	3	1	222	1	0	0	0	0	1	0	0	0	11108	1058	37	1	252	1	OR52A1	11	5172912	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		5172912	129833604	21	3881											
SHANK2	22941	broad.mit.edu	37	chr11	70333190	70333190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgctgacggtcaggctttCgtcaggccgcagctggctcg	15	13	2	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:70333190C>T	uc001oqc.3	-	20	3122	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	SHANK2_uc010rqn.2_Missense_Mutation_p.E480K|SHANK2_uc001opz.3_Missense_Mutation_p.E475K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	691					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCAGGCTTTCGTCAGGCCGC	0.701													29	47					0	0	1	0	0	T	70333190	C	T	70333190	3	4	222	1	0	0	0	0	1	0	0	0	14265	893	31	1	2349	1	SHANK2	11	70333190	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08	65160278	70333190	64673326	22	3882											
ARHGAP32	9743	broad.mit.edu	37	chr11	129034263	129034263	+	Frame_Shift_Del	DEL	T	T	-													gccgctctcgagggtgtacaTttctatgtagctctggaaca							TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:129034263delT	uc009zcp.3	-	1	176	c.176delA	c.(175-177)aatfs	p.N59fs	ARHGAP32_uc009zcq.2_Frame_Shift_Del_p.N19fs	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	59					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGGTGTACATTTCTATGTAG	0.348													2	4	---	---	---	---						-	129034263	T	-	129034263	7	5	222	1	0	1	0	1	0	0	0	0	881	1493	52	0	6171	0	ARHGAP32	11	129034263	Frame_Shift_Del	DEL	T	TCGA-EL-A4K6-01A-12D-A257-08	58701073	129034263	5972253	23	3883											
C12orf71	728858	broad.mit.edu	37	chr12	27234344	27234344	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctctggctgctctgacagGattgaggagatctctggagc	13	9	3	3			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr12:27234344G>A	uc001rhq.3	-	1	612	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	191										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GCTCTGACAGGATTGAGGAGA	0.537													55	51					0	0	1	0	0	A	27234344	G	A	27234344	2	1	222	1	0	0	0	0	0	0	0	1	1712	1164	41	2		2	C12orf71	12	27234344	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		27234344	106617551	24	3884											
DIS3	22894	broad.mit.edu	37	chr13	73345948	73345948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccttttcacaaagataCacagttgttcctcttctggc	5	11	3	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr13:73345948C>T	uc001vix.4	-	10	1964	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	DIS3_uc001viy.4_Silent_p.V500V|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	530					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CACAAAGATACACAGTTGTTC	0.338										Multiple Myeloma(4;0.011)			7	73					0	0	1	0	0	T	73345948	C	T	73345948	2	4	222	1	0	0	0	0	0	0	0	1	4535	465	17	2		2	DIS3	13	73345948	Silent	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		73345948	41823930	25	3885											
LRRC3	81543	broad.mit.edu	37	chr21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaactcagcgccaagataCgcctgtcccacaaccccctg	7	18	1	1			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr21:45876948C>T	uc002zfa.3	+	1	714	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LRRC3_uc021wjs.1_Missense_Mutation_p.R141C	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	141						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672													13	65					0	0	1	0	0	T	45876948	C	T	45876948	3	4	222	1	0	0	0	0	1	0	0	0	8984	536	19	1	423	1	LRRC3	21	45876948	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		45876948	2252947	26	3886											
DOCK7	85440	broad.mit.edu	37	chr1	63042965	63042965	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacagaataagcctgtggtgGtttttccaatgagactggca	11	7	0	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:63042965G>C	uc001daq.3	-	17	2114	c.2080C>G	c.(2080-2082)Cca>Gca	p.P694A	DOCK7_uc001dan.3_Missense_Mutation_p.P586A|DOCK7_uc001dao.3_Missense_Mutation_p.P586A|DOCK7_uc001dap.3_Missense_Mutation_p.P694A	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	694	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCTGTGGTGGTTTTTCCAAT	0.373													15	36					0	0	1	0	0	C	63042965	G	C	63042965	3	2	223	1	0	0	0	0	1	0	0	0	4692	1261	44	4	4377	4	DOCK7	1	63042965	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		63042965	186207656	1	3887											
PDE4DIP	9659	broad.mit.edu	37	chr1	144906087	144906087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtttcctgaaatttctTgaccctgggattctactgaa	8	9	2	3			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:144906087T>C	uc021ouh.1	-	18	2848	c.2546A>G	c.(2545-2547)cAa>cGa	p.Q849R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q849R|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q915R|PDE4DIP_uc001emd.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emc.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q1012R|PDE4DIP_uc001eme.1_Intron	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	849					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAATTTCTTGACCCTGGGA	0.353			T	PDGFRB	MPD								10	98					0	0	1	0	0	C	144906087	T	C	144906087	3	2	223	1	0	0	0	0	1	0	0	0	11643	1812	63	3	4608	3	PDE4DIP	1	144906087	Missense_Mutation	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08	81863122	144906087	104344534	2	3888											
S100A7	6278	broad.mit.edu	37	chr1	153430333	153430333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatggctctgcttgtggtaGtctgtggctatgtctcccag	12	11	3	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:153430333G>T	uc001fbv.1	-	2	326	c.255C>A	c.(253-255)gaC>gaA	p.D85E		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	85	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding	p.D85G(1)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTGTGGTAGTCTGTGGCTA	0.512													33	55					0	0	1	0	0	T	153430333	G	T	153430333	3	4	223	1	0	0	0	0	1	0	0	0	13783	1020	36	4	54	4	S100A7	1	153430333	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08	8524246	153430333	95820288	3	3889											
COL6A6	131873	broad.mit.edu	37	chr3	130282318	130282318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaggccctgcggaaagaCggagtgaaaatcatctctgt	11	9	3	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr3:130282318C>T	uc010htl.3	+	1	502	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	157	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.D157D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCGGAAAGACGGAGTGAAAA	0.493													4	39					0	0	1	0	0	T	130282318	C	T	130282318	2	4	223	1	0	0	0	0	0	0	0	1	3703	535	19	1		1	COL6A6	3	130282318	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		130282318	67740112	4	3890											
GABRA2	2555	broad.mit.edu	37	chr4	46314729	46314729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaacatcaattgtaTattcctgaaataaaaaatag	5	4	1	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:46314729T>C	uc011bzc.1	-	3	507	c.95A>G	c.(94-96)tAt>tGt	p.Y32C	GABRA2_uc003gxc.3_Missense_Mutation_p.Y87C|GABRA2_uc010igc.2_Missense_Mutation_p.Y87C|GABRA2_uc003gxe.3_Missense_Mutation_p.Y87C			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	87					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.Q31K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCAATTGTATATTCCTGAAA	0.249													5	24					0	0	1	0	0	C	46314729	T	C	46314729	3	2	223	1	0	0	0	0	1	0	0	0	6161	1406	49	3	1119	3	GABRA2	4	46314729	Missense_Mutation	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08		46314729	144839547	5	3891											
NDST4	64579	broad.mit.edu	37	chr4	115998001	115998001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtttaactgttttcagCtccattgacctatatggtag	8	7	1	1			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:115998001C>T	uc003ibu.3	-	1	871	c.192G>A	c.(190-192)gaG>gaA	p.E64E	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	64	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.E64K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTGTTTTCAGCTCCATTGACC	0.408													7	69					0	0	1	0	0	T	115998001	C	T	115998001	2	4	223	1	0	0	0	0	0	0	0	1	10258	796	28	2		2	NDST4	4	115998001	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	69683272	115998001	75156275	6	3892											
IRF5	3663	broad.mit.edu	37	chr7	128588791	128588791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcccagcagcggttgcaGcctgtggcccaggcccctcc	12	18	0	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr7:128588791G>T	uc003vog.3	+	8	1585	c.1464G>T	c.(1462-1464)caG>caT	p.Q488H	IRF5_uc003voh.3_Missense_Mutation_p.Q472H|IRF5_uc010llt.3_Missense_Mutation_p.Q386H|IRF5_uc003voi.3_Missense_Mutation_p.Q472H|IRF5_uc003voj.4_Missense_Mutation_p.Q472H	NM_001098629	NP_001092099	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 5, mRNA.	472					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCGGTTGCAGCCTGTGGCCC	0.597													39	72					0	0	1	0	0	T	128588791	G	T	128588791	3	4	223	1	0	0	0	0	1	0	0	0	7833	962	34	4	1494	4	IRF5	7	128588791	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		128588791	30549872	7	3893											
B4GALNT3	283358	broad.mit.edu	37	chr12	667249	667249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctggcatagacctcGtgaaggtaaagggcctggat	14	8	1	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:667249G>A	uc001qii.1	+	16	2602	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M	B4GALNT3_uc001qik.1_Missense_Mutation_p.V417M	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	868						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CATAGACCTCGTGAAGGTAAA	0.547													4	49					0	0	1	0	0	A	667249	G	A	667249	3	1	223	1	0	0	0	0	1	0	0	0	1268	1145	40	1	2668	1	B4GALNT3	12	667249	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		667249	133184646	8	3894											
GCN1L1	10985	broad.mit.edu	37	chr12	120582584	120582584	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtagccacgatttcTggcatcaacttctccaactt	7	13	3	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:120582584T>C	uc001txo.3	-	40	5224	c.5211A>G	c.(5209-5211)ccA>ccG	p.P1737P		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1737					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACGATTTCTGGCATCAACT	0.517													58	103					0	0	1	0	0	C	120582584	T	C	120582584	2	2	223	1	0	0	0	0	0	0	0	1	6299	1567	55	3		3	GCN1L1	12	120582584	Silent	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08	119915335	120582584	13269311	9	3895											
IRS2	8660	broad.mit.edu	37	chr13	110438060	110438060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgtccttggtgtagaggGcgatcaggtacttgtgcttg	14	8	1	1			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr13:110438060G>A	uc001vqv.3	-	0	855	c.341C>T	c.(340-342)gCc>gTc	p.A114V		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	114	PH.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTGTAGAGGGCGATCAGGTA	0.657													7	9					0	0	1	0	0	A	110438060	G	A	110438060	3	1	223	1	0	0	0	0	1	0	0	0	7841	1203	42	2	3683	2	IRS2	13	110438060	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		110438060	4731818	10	3896											
GPR139	124274	broad.mit.edu	37	chr16	20084907	20084907	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaccaagacagcgagctgTtggctgcgaggtgggcgtgc	16	11	0	1			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr16:20084907T>A	uc002dgu.1	-	0	194	c.32A>T	c.(31-33)aAc>aTc	p.N11I	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	11						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGCGAGCTGTTGGCTGCGAG	0.697													5	11					0	0	1	0	0	A	20084907	T	A	20084907	3	1	223	1	0	0	0	0	1	0	0	0	6648	1725	60	5	1037	5	GPR139	16	20084907	Missense_Mutation	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08		20084907	70269846	11	3897											
NCOR1	9611	broad.mit.edu	37	chr17	15995328	15995328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggtagagagcatagccGctcactggggttccaattgg	14	10	1	1			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:15995328G>A	uc002gpo.3	-	21	3134	c.2865C>T	c.(2863-2865)agC>agT	p.S955S	NCOR1_uc002gpn.3_Silent_p.S971S|NCOR1_uc002gpp.1_Silent_p.S862S|NCOR1_uc002gpq.1_5'UTR|NCOR1_uc002gpr.3_Silent_p.S862S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	955					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGCATAGCCGCTCACTGGGG	0.433													7	86					0	0	1	0	0	A	15995328	G	A	15995328	2	1	223	1	0	0	0	0	0	0	0	1	10235	1078	38	1		1	NCOR1	17	15995328	Silent	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		15995328	65199882	12	3898											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72759553	72759553	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatggggacgtggtgtcCgccatcagggctggcgggga	19	10	1	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:72759553C>A	uc002jlo.3	+	2	874	c.651C>A	c.(649-651)tcC>tcA	p.S217S	SLC9A3R1_uc002jln.1_Non-coding_Transcript	NM_004252	NP_004243	O14745	NHRF1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.	217	PDZ 2.				Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association			large_intestine(4)	4						ACGTGGTGTCCGCCATCAGGG	0.622													7	14					0	0	1	0	0	A	72759553	C	A	72759553	2	1	223	1	0	0	0	0	0	0	0	1	14714	639	23	4		4	SLC9A3R1	17	72759553	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	56764225	72759553	8435657	13	3899											
ECSIT	51295	broad.mit.edu	37	chr19	11618516	11618516	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttgctttaagccctcaCcctctcctccgggggcagca	9	16	2	0			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:11618516C>T	uc002msb.3	-	6	1079	c.945_splice	c.e6+1	p.R315_splice	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Splice_Site_p.G275_splice|ECSIT_uc010dyd.3_Intron|ECSIT_uc010xma.2_Splice_Site_p.R101_splice	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	315					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TAAGCCCTCACCCTCTCCTCC	0.612													22	42					0	0	1	0	0	T	11618516	C	T	11618516	5	4	223	1	0	0	0	0	0	0	1	0	4900	521	18	2	361	2	ECSIT	19	11618516	Splice_Site	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		11618516	47510467	14	3900											
TMEM145	284339	broad.mit.edu	37	chr19	42821993	42821993	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgacactttcctgagaagCagcctttttatgtgcccttc	8	12	0	1			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:42821993C>T	uc002otk.1	+	11	1085	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	345						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCTGAGAAGCAGCCTTTTTA	0.597													6	70					0	0	1	0	0	T	42821993	C	T	42821993	4	4	223	1	0	0	0	0	0	1	0	0	16056	711	25	2	1079	2	TMEM145	19	42821993	Nonsense_Mutation	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	31203477	42821993	16306990	15	3901											
SEC14L2	23541	broad.mit.edu	37	chr22	30812008	30812008	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcagtatgaacacagCgtgcagatttcccgtggctc	10	11	0	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr22:30812008C>T	uc003ahu.3	+	5	420	c.315_splice	c.e5+1	p.S105_splice	SEC14L2_uc003ahq.3_Silent_p.S281S|SEC14L2_uc003ahr.3_Silent_p.S281S|SEC14L2_uc011aky.2_Silent_p.S198S|SEC14L2_uc011akx.2_Silent_p.S227S|SEC14L2_uc003ahs.3_Silent_p.S207S|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc010gvv.3_Non-coding_Transcript|SEC14L2_uc003ahv.1_Silent_p.S105S|SEC14L2_uc010gvx.1_Intron|SEC14L2_uc010gvy.1_Intron	NM_001204204	NP_001191133	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 3, mRNA.	281	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ATGAACACAGCGTGCAGATTT	0.557													21	53					0	0	1	0	0	T	30812008	C	T	30812008	5	4	223	1	0	0	0	0	0	0	1	0	13982	767	27	1	881	1	SEC14L2	22	30812008	Splice_Site	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		30812008	20492558	16	3902											
MAGED1	9500	broad.mit.edu	37	chrX	51637442	51637442	+	Frame_Shift_Del	DEL	C	C	-													ggtgcgggcctcctcggcttCcaggtgagatctccactccc							TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:51637442delC	uc004dpn.3	+	1	232	c.42delC	c.(40-42)ttcfs	p.F14fs	MAGED1_uc004dpm.3_Frame_Shift_Del_p.F14fs|MAGED1_uc004dpo.3_Frame_Shift_Del_p.F14fs|MAGED1_uc011mnx.1_Frame_Shift_Del_p.F14fs	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	0					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCCTCGGCTTCCAGGTGAGAT	0.657										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	51637442	C	-	51637442	7	5	223	1	0	1	0	1	0	0	0	0	9183	854	30	0	44	0	MAGED1	23	51637442	Frame_Shift_Del	DEL	C	TCGA-EL-A4KD-01A-11D-A257-08		51637442	103633118	17	3903											
ALG13	79868	broad.mit.edu	37	chrX	110951558	110951558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatatttaggcagcttAgggctgtttcgaaagctgac	12	6	0	2			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:110951558A>G	uc011msy.2	+	3	788	c.687A>G	c.(685-687)ttA>ttG	p.L229L	ALG13_uc011msw.2_Silent_p.L151L|ALG13_uc011msx.2_Silent_p.L125L|ALG13_uc011msz.2_Silent_p.L151L|ALG13_uc011mta.2_Silent_p.L125L|ALG13_uc011mtb.2_Silent_p.L125L	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	229					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						TAGGCAGCTTAGGGCTGTTTC	0.453													9	56					0	0	1	0	0	G	110951558	A	G	110951558	2	3	223	1	0	0	0	0	0	0	0	1	515	417	15	3		3	ALG13	23	110951558	Silent	SNP	A	TCGA-EL-A4KD-01A-11D-A257-08	59314116	110951558	44319002	18	3904											
TAS1R3	83756	broad.mit.edu	37	chr1	1269281	1269281	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgtggagtcagaactgcctCtgagctgggcagaccggctg	15	11	2	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:1269281C>T	uc010nyk.2	+	5	1996	c.1996C>T	c.(1996-1998)Ctg>Ttg	p.L666L		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	666					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	AGAACTGCCTCTGAGCTGGGC	0.677													9	36					0	0	1	0	0	T	1269281	C	T	1269281	2	4	224	1	0	0	0	0	0	0	0	1	15561	912	32	2		2	TAS1R3	1	1269281	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		1269281	247981340	1	3905											
TAS1R1	80835	broad.mit.edu	37	chr1	6635194	6635194	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagagggctgtccctggcctGaaggcgtttgaagaagccta	14	9	0	4			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:6635194G>A	uc001ant.3	+	2	1098	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Silent_p.L256L	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	334					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTGGCCTGAAGGCGTTTG	0.632													12	26					0	0	1	0	0	A	6635194	G	A	6635194	2	1	224	1	0	0	0	0	0	0	0	1	15559	1277	45	2		2	TAS1R1	1	6635194	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	5365913	6635194	242615427	2	3906											
ZNF436	80818	broad.mit.edu	37	chr1	23688762	23688762	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgagatgagagctccggctGaagcttttcccacaagcatt	10	10	0	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:23688762G>A	uc001bgt.3	-	2	1494	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ZNF436_uc001bgu.3_Silent_p.F371F	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCTCCGGCTGAAGCTTTTCC	0.468													18	59					0	0	1	0	0	A	23688762	G	A	23688762	2	1	224	1	0	0	0	0	0	0	0	1	17906	1281	45	2		2	ZNF436	1	23688762	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	17053568	23688762	225561859	3	3907											
C1orf172	126695	broad.mit.edu	37	chr1	27278146	27278146	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgtcagcttcttgaagatGagcacatcaatttctcggct	8	10	5	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:27278146G>T	uc001bni.2	-	1	819	c.726C>A	c.(724-726)ctC>ctA	p.L242L	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	242										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTGAAGATGAGCACATCAA	0.532													9	35					0	0	1	0	0	T	27278146	G	T	27278146	2	4	224	1	0	0	0	0	0	0	0	1	2013	1277	45	4		4	C1orf172	1	27278146	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	3589384	27278146	221972475	4	3908											
TMEM54	113452	broad.mit.edu	37	chr1	33363789	33363789	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcagagccaccgcatcttGaggggtgcccacgtagcgca	13	14	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:33363789G>C	uc001bwi.1	-	1	262	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	TMEM54_uc001bwj.1_Missense_Mutation_p.Q50E|TMEM54_uc001bwk.1_Missense_Mutation_p.Q50E	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	Homo sapiens transmembrane protein 54 (TMEM54), mRNA.	50						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCGCATCTTGAGGGGTGCCC	0.617													19	47					0	0	1	0	0	C	33363789	G	C	33363789	3	2	224	1	0	0	0	0	1	0	0	0	16177	1299	45	4	540	4	TMEM54	1	33363789	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	6085643	33363789	215886832	5	3909											
ELOVL1	64834	broad.mit.edu	37	chr1	43829727	43829727	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccatacatccagatgaggtGaataatgactgggtactggt	12	7	0	4			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:43829727G>A	uc001cjb.3	-	7	828	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Missense_Mutation_p.H207Y	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.	234					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGATGAGGTGAATAATGACT	0.478													15	43					0	0	1	0	0	A	43829727	G	A	43829727	3	1	224	1	0	0	0	0	1	0	0	0	5073	1290	45	2	143	2	ELOVL1	1	43829727	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	10465938	43829727	205420894	6	3910											
ANKRD35	148741	broad.mit.edu	37	chr1	145555755	145555755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaggggggatgtgggaCgcgtggctgccctggcctcc	18	12	0	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:145555755C>T	uc001eob.1	+	1	211	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	35										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGTGGGACGCGTGGCTGC	0.602													14	26					0	0	1	0	0	T	145555755	C	T	145555755	3	4	224	1	0	0	0	0	1	0	0	0	664	536	19	1	109	1	ANKRD35	1	145555755	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	101726028	145555755	103694866	7	3911											
PI4KB	5298	broad.mit.edu	37	chr1	151265367	151265367	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggtactggaagccgtcataGagtttggtggtgatagaccg	15	6	1	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:151265367G>C	uc001exr.3	-	12	3087	c.2448C>G	c.(2446-2448)ctC>ctG	p.L816L	PI4KB_uc001exs.3_Silent_p.L789L|PI4KB_uc001exu.3_Silent_p.L789L|PI4KB_uc010pcw.2_Silent_p.L472L|PI4KB_uc001ext.3_Silent_p.L804L	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	804					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCGTCATAGAGTTTGGTGG	0.587													14	50					0	0	1	0	0	C	151265367	G	C	151265367	2	2	224	1	0	0	0	0	0	0	0	1	11874	929	33	4		4	PI4KB	1	151265367	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	5709612	151265367	97985254	8	3912											
RPTN	126638	broad.mit.edu	37	chr1	152127926	152127926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctggccttgtctgtctGtctgaccatagtgggaactc	10	11	4	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152127926G>A	uc001ezs.1	-	2	1714	c.1649C>T	c.(1648-1650)aCa>aTa	p.T550I		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	550	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGTCTGTCTGTCTGACCATA	0.522													37	702					0	0	1	0	0	A	152127926	G	A	152127926	3	1	224	1	0	0	0	0	1	0	0	0	13664	1377	48	2	709	2	RPTN	1	152127926	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	862559	152127926	97122695	9	3913											
RPTN	126638	broad.mit.edu	37	chr1	152129034	152129034	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctctcagactgattgtggtGagaatctctgtcttgtctct	9	9	5	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152129034G>A	uc001ezs.1	-	2	606	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	181	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATTGTGGTGAGAATCTCTG	0.458													77	307					0	0	1	0	0	A	152129034	G	A	152129034	3	1	224	1	0	0	0	0	1	0	0	0	13664	1290	45	2	1817	2	RPTN	1	152129034	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	1108	152129034	97121587	10	3914											
RHOQ	23433	broad.mit.edu	37	chr2	46803742	46803742	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaactttagcaagactgaatGatatgaaagaaaaacctata	6	5	0	5			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:46803742G>C	uc002rva.3	+	3	728	c.409G>C	c.(409-411)Gat>Cat	p.D137H	BC048424_uc002rvb.3_Intron	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	137					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGACTGAATGATATGAAAGA	0.318													15	50					0	0	1	0	0	C	46803742	G	C	46803742	3	2	224	1	0	0	0	0	1	0	0	0	13342	1290	45	4	423	4	RHOQ	2	46803742	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		46803742	196395631	11	3915											
ETAA1	54465	broad.mit.edu	37	chr2	67632194	67632194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactacttataagaagaaaTtgagtactaatcagccatgc	6	7	1	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:67632194T>C	uc002sdz.1	+	4	2519	c.2380T>C	c.(2380-2382)Ttg>Ctg	p.L794L		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	794						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TAAGAAGAAATTGAGTACTAA	0.328													20	33					0	0	1	0	0	C	67632194	T	C	67632194	2	2	224	1	0	0	0	0	0	0	0	1	5267	1490	52	3		3	ETAA1	2	67632194	Silent	SNP	T	TCGA-EL-A4KG-01A-11D-A257-08	20828452	67632194	175567179	12	3916											
TCF7L1	83439	broad.mit.edu	37	chr2	85532449	85532449	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggcctgcccacctcaggGatcccccaccctgccatcgt	8	21	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:85532449G>A	uc002soy.3	+	7	1137	c.912G>A	c.(910-912)ggG>ggA	p.G304G		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	304	Pro-rich.				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCACCTCAGGGATCCCCCACC	0.627													22	55					0	0	1	0	0	A	85532449	G	A	85532449	2	1	224	1	0	0	0	0	0	0	0	1	15694	1161	41	2		2	TCF7L1	2	85532449	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	17900255	85532449	157666924	13	3917											
MST1	4485	broad.mit.edu	37	chr3	49724229	49724229	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgtcgtccagaccttggtcGaggaacctgggggcggtaat	15	9	0	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:49724229G>T	uc011bcs.1	-	6	803	c.731C>A	c.(730-732)tCg>tAg	p.S244*	MST1_uc003cxg.3_Silent_p.L245L|MST1_uc010hkx.2_Silent_p.L166L|MST1_uc011bct.1_Silent_p.L245L|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank			P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	404	Kringle 2.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACCTTGGTCGAGGAACCTGG	0.622													6	25					0	0	1	0	0	T	49724229	G	T	49724229	4	4	224	1	0	0	0	0	0	1	0	0	9890	1045	37	4	1490	4	MST1	3	49724229	Nonsense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		49724229	148298201	14	3918											
PHLDB2	90102	broad.mit.edu	37	chr3	111603725	111603725	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagccacagagaaccagctGacacctctcagcttgcctcc	8	16	1	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:111603725G>A	uc010hqa.3	+	1	1212	c.801G>A	c.(799-801)ctG>ctA	p.L267L	PHLDB2_uc003dyc.3_Silent_p.L294L|PHLDB2_uc003dyd.3_Silent_p.L267L|PHLDB2_uc003dyg.3_Silent_p.L267L|PHLDB2_uc003dyh.3_Silent_p.L267L|PHLDB2_uc003dye.4_Silent_p.L267L|PHLDB2_uc003dyf.4_Silent_p.L267L	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	267						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAACCAGCTGACACCTCTCA	0.478													18	37					0	0	1	0	0	A	111603725	G	A	111603725	2	1	224	1	0	0	0	0	0	0	0	1	11852	1277	45	2		2	PHLDB2	3	111603725	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	61879496	111603725	86418705	15	3919											
BCL6	604	broad.mit.edu	37	chr3	187443336	187443336	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttgtagggcttctctccaGagtgaattcgagtgtgggtt	13	6	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:187443336G>C	uc003frp.3	-	7	2247	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.S541C|BCL6_uc010hza.2_Missense_Mutation_p.S495C|BCL6_uc003frq.2_Missense_Mutation_p.S597C	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	597					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTTCTCTCCAGAGTGAATTCG	0.572			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								19	66					0	0	1	0	0	C	187443336	G	C	187443336	3	2	224	1	0	0	0	0	1	0	0	0	1376	942	33	4	342	4	BCL6	3	187443336	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	75839611	187443336	10579094	16	3920											
GAK	2580	broad.mit.edu	37	chr4	853445	853445	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaaatgggtccgggttctGagacttggtccagctggcct	14	10	1	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr4:853445G>A	uc003gbm.4	-	23	3431	c.3232C>T	c.(3232-3234)Cag>Tag	p.Q1078*	GAK_uc003gbn.4_Nonsense_Mutation_p.Q999*|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Nonsense_Mutation_p.Q931*	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1078					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCCGGGTTCTGAGACTTGGTC	0.612													20	68					0	0	1	0	0	A	853445	G	A	853445	4	1	224	1	0	0	0	0	0	1	0	0	6195	1299	45	2	723	2	GAK	4	853445	Nonsense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		853445	190300831	17	3921											
RIOK2	55781	broad.mit.edu	37	chr5	96503564	96503564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacttctccatctgaaaatGagaattcagatccctctttt	4	12	4	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr5:96503564G>A	uc003kmz.3	-	7	1114	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	RIOK2_uc003kna.3_Missense_Mutation_p.S335L	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	335	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATCTGAAAATGAGAATTCAGA	0.418													28	122					0	0	1	0	0	A	96503564	G	A	96503564	3	1	224	1	0	0	0	0	1	0	0	0	13378	1294	45	2	694	2	RIOK2	5	96503564	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		96503564	84411696	18	3922											
DST	667	broad.mit.edu	37	chr6	56397207	56397207	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agactgagctgtttcaaaatCttcactttatctgcgggctc	8	10	4	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56397207C>G	uc003pcy.4	-	44	9282	c.9174G>C	c.(9172-9174)aaG>aaC	p.K3058N		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5470					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTCAAAATCTTCACTTTAT	0.398													4	27					0	0	1	0	0	G	56397207	C	G	56397207	3	3	224	1	0	0	0	0	1	0	0	0	4783	912	32	4	6501	4	DST	6	56397207	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		56397207	114717860	19	3923											
DST	667	broad.mit.edu	37	chr6	56438569	56438569	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttccacatttcccatccagtCcagcatttcatccaagccat	3	16	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56438569C>G	uc003pcy.4	-	31	5383	c.5275G>C	c.(5275-5277)Gac>Cac	p.D1759H	DST_uc010kaa.1_Non-coding_Transcript	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4171					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCATCCAGTCCAGCATTTCA	0.403													16	52					0	0	1	0	0	G	56438569	C	G	56438569	3	3	224	1	0	0	0	0	1	0	0	0	4783	855	30	4	10452	4	DST	6	56438569	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	41362	56438569	114676498	20	3924											
TBX18	9096	broad.mit.edu	37	chr6	85472299	85472299	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatcatctcagtgcctatctCatgaaagcgcttccagagct	8	12	3	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:85472299C>T	uc003pkl.1	-	1	460	c.460G>A	c.(460-462)Gag>Aag	p.E154K	TBX18_uc010kbq.2_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	154					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGCCTATCTCATGAAAGCGC	0.672													25	97					0	0	1	0	0	T	85472299	C	T	85472299	3	4	224	1	0	0	0	0	1	0	0	0	15650	835	29	2	1391	2	TBX18	6	85472299	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	29033730	85472299	85642768	21	3925											
VTA1	51534	broad.mit.edu	37	chr6	142510607	142510607	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agatggaaggcaacatacatCcataattgtttaaagaatgg	9	5	0	2	rs150897330		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:142510607C>G	uc003qiw.3	+	4	471	c.456C>G	c.(454-456)atC>atG	p.I152M	VTA1_uc011edu.2_Missense_Mutation_p.I94M	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	152	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAACATACATCCATAATTGTT	0.343													27	38					0	0	1	0	0	G	142510607	C	G	142510607	3	3	224	1	0	0	0	0	1	0	0	0	17230	845	30	4	474	4	VTA1	6	142510607	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	57038308	142510607	28604460	22	3926											
TAGAP	117289	broad.mit.edu	37	chr6	159457891	159457891	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggtttgtcacccggctctcGaggcactcctgggaggatgg	15	11	2	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:159457891G>C	uc003qrz.3	-	9	1496	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L	TAGAP_uc011eft.2_Silent_p.L325L|TAGAP_uc003qsa.3_Silent_p.L210L	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	388					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCGGCTCTCGAGGCACTCCT	0.587													13	46					0	0	1	0	0	C	159457891	G	C	159457891	2	2	224	1	0	0	0	0	0	0	0	1	15534	1045	37	4		4	TAGAP	6	159457891	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	16947284	159457891	11657176	23	3927											
MUC17	140453	broad.mit.edu	37	chr7	100695160	100695160	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccagaagccatactgcatCagcccctgtgagcctggctt	10	14	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:100695160C>A	uc003uxp.1	+	8	13073	c.13020C>A	c.(13018-13020)atC>atA	p.I4340I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4340						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATACTGCATCAGCCCCTGTG	0.577													26	109					0	0	1	0	0	A	100695160	C	A	100695160	2	1	224	1	0	0	0	0	0	0	0	1	9974	816	29	4		4	MUC17	7	100695160	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		100695160	58443503	24	3928											
TRIM24	8805	broad.mit.edu	37	chr7	138258373	138258373	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaaattcatcagtgccatCtccaggccttgcaggtaaag	8	12	3	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:138258373C>T	uc003vuc.3	+	11	2215	c.2000C>T	c.(1999-2001)tCt>tTt	p.S667F	TRIM24_uc003vub.3_Missense_Mutation_p.S633F	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	667					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TCAGTGCCATCTCCAGGCCTT	0.398													14	54					0	0	1	0	0	T	138258373	C	T	138258373	3	4	224	1	0	0	0	0	1	0	0	0	16495	913	32	2	2046	2	TRIM24	7	138258373	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	37563213	138258373	20880290	25	3929											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	41					0	0	1	0	0	T	140453136	A	T	140453136	3	4	224	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4KG-01A-11D-A257-08	2194763	140453136	18685527	26	3930											
MLL3	58508	broad.mit.edu	37	chr7	151856077	151856077	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtccgtttgcttcgctgtttCttggtttcacttcctccatc	7	13	2	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:151856077C>G	uc003wla.3	-	43	11760	c.11541G>C	c.(11539-11541)aaG>aaC	p.K3847N	MLL3_uc003wkz.3_Missense_Mutation_p.K2908N|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Missense_Mutation_p.K1356N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3847					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCGCTGTTTCTTGGTTTCAC	0.458			N		medulloblastoma								27	98					0	0	1	0	0	G	151856077	C	G	151856077	3	3	224	1	0	0	0	0	1	0	0	0	9622	912	32	4	3258	4	MLL3	7	151856077	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	11402941	151856077	7282586	27	3931											
NCAPG2	54892	broad.mit.edu	37	chr7	158478911	158478911	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaagctctgaaataaatttCtgcaatgtataccatcaaag	5	9	3	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:158478911C>G	uc011kwe.1	-	7	935	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	NCAPG2_uc010lqu.1_Missense_Mutation_p.E56Q|NCAPG2_uc003wnx.1_Missense_Mutation_p.E264Q|NCAPG2_uc003wnv.1_Missense_Mutation_p.E264Q|NCAPG2_uc003wnw.1_Non-coding_Transcript	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	264					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAATAAATTTCTGCAATGTAT	0.254													12	19					0	0	1	0	0	G	158478911	C	G	158478911	3	3	224	1	0	0	0	0	1	0	0	0	10208	922	32	4	2725	4	NCAPG2	7	158478911	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	6622834	158478911	659752	28	3932											
TRPM3	80036	broad.mit.edu	37	chr9	73461349	73461349	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttgtcattgctgctttgatGagccctttcccaaagacttg	9	10	1	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:73461349G>C	uc004aid.3	-	3	865	c.621C>G	c.(619-621)ctC>ctG	p.L207L	TRPM3_uc004ahu.3_Silent_p.L37L|TRPM3_uc004ahv.3_Silent_p.L37L|TRPM3_uc004ahw.3_Silent_p.L54L|TRPM3_uc004ahx.3_Silent_p.L54L|TRPM3_uc004ahy.3_Silent_p.L54L|TRPM3_uc004ahz.3_Silent_p.L54L|TRPM3_uc004aia.3_Silent_p.L54L|TRPM3_uc004aib.3_Silent_p.L54L|TRPM3_uc004aic.3_Silent_p.L207L|TRPM3_uc010mor.3_Silent_p.L207L|TRPM3_uc004aie.3_Silent_p.L54L|TRPM3_uc004aif.3_Silent_p.L54L|TRPM3_uc004aig.3_Silent_p.L54L|TRPM3_uc004aii.3_Silent_p.L209L	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	207						integral to membrane	calcium channel activity	p.A206S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGCTTTGATGAGCCCTTTCC	0.483													26	130					0	0	1	0	0	C	73461349	G	C	73461349	2	2	224	1	0	0	0	0	0	0	0	1	16584	1277	45	4		4	TRPM3	9	73461349	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		73461349	67752082	29	3933											
LAMC3	10319	broad.mit.edu	37	chr9	133936606	133936606	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acccactgccccccgggccaGagaggtaagtgactcctgcc	11	17	0	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:133936606G>C	uc004caa.1	+	12	2441	c.2343G>C	c.(2341-2343)caG>caC	p.Q781H		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	781	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCCGGGCCAGAGAGGTAAGT	0.687													3	17					0	0	1	0	0	C	133936606	G	C	133936606	3	2	224	1	0	0	0	0	1	0	0	0	8616	933	33	4	2393	4	LAMC3	9	133936606	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	60475257	133936606	7276825	30	3934											
NRP1	8829	broad.mit.edu	37	chr10	33510667	33510667	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttatcttgcaaccgtatActtcaaatctcatagatatg	5	9	3	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:33510667A>G	uc001iwx.4	-	7	1785	c.1262T>C	c.(1261-1263)gTa>gCa	p.V421A	NRP1_uc001iwv.4_Missense_Mutation_p.V421A|NRP1_uc001iwy.4_Missense_Mutation_p.V421A|NRP1_uc009xlz.3_Missense_Mutation_p.V421A|NRP1_uc001iww.4_Missense_Mutation_p.V240A|NRP1_uc001iwz.2_Missense_Mutation_p.V421A|NRP1_uc001ixa.2_Missense_Mutation_p.V421A|NRP1_uc001ixb.2_Missense_Mutation_p.V421A|NRP1_uc001ixc.1_Missense_Mutation_p.V421A	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	421	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCAACCGTATACTTCAAATCT	0.393													38	72					0	0	1	0	0	G	33510667	A	G	33510667	3	3	224	1	0	0	0	0	1	0	0	0	10660	391	14	3	1560	3	NRP1	10	33510667	Missense_Mutation	SNP	A	TCGA-EL-A4KG-01A-11D-A257-08		33510667	102024080	31	3935											
AFAP1L2	84632	broad.mit.edu	37	chr10	116067643	116067643	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcattaggttgctcagtttGaggccagcagaacatttctt	9	8	3	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:116067643G>C	uc010qse.2	-	10	1453	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	AFAP1L2_uc001lbn.3_Silent_p.L331L|AFAP1L2_uc001lbo.3_Silent_p.L331L|AFAP1L2_uc001lbp.3_Silent_p.L359L|AFAP1L2_uc001lbr.1_Silent_p.L331L|AFAP1L2_uc010qsd.2_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	331	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGCTCAGTTTGAGGCCAGCAG	0.483													7	43					0	0	1	0	0	C	116067643	G	C	116067643	2	2	224	1	0	0	0	0	0	0	0	1	355	1277	45	4		4	AFAP1L2	10	116067643	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	82556976	116067643	19467104	32	3936											
PGAP2	27315	broad.mit.edu	37	chr11	3845543	3845543	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtgttcattgcctcatccctCgggcacatgctcctcacctg	8	16	3	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:3845543C>G	uc010qyb.2	+	5	610	c.472C>G	c.(472-474)Cgg>Ggg	p.R158G	PGAP2_uc001lyl.3_Silent_p.L172L|PGAP2_uc010qxy.2_Silent_p.L211L|PGAP2_uc010qxw.2_Silent_p.L272L|PGAP2_uc001lyn.4_Missense_Mutation_p.R108G|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc001lys.3_Silent_p.L215L|PGAP2_uc001lyt.3_5'UTR|PGAP2_uc021qcm.1_Silent_p.L154L	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	0					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCTCATCCCTCGGGCACATGC	0.562													24	64					0	0	1	0	0	G	3845543	C	G	3845543	3	3	224	1	0	0	0	0	1	0	0	0	11778	875	31	4	838	4	PGAP2	11	3845543	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		3845543	131160973	33	3937											
EXT2	2132	broad.mit.edu	37	chr11	44135735	44135735	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatactttgctttcagGgccctgttggctggtggcgg	13	9	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:44135735G>A	uc001mya.3	+	4	782	c.726_splice	c.e4-1	p.R242_splice	EXT2_uc010rfo.2_Splice_Site_p.R237_splice|EXT2_uc009ykt.3_Splice_Site_p.R209_splice|EXT2_uc001mxz.3_Splice_Site_p.R209_splice	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	209					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTGCTTTCAGGGCCCTGTTGG	0.443			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				7	108					0	0	1	0	0	A	44135735	G	A	44135735	5	1	224	1	0	0	0	0	0	0	1	0	5324	1246	43	2	740	2	EXT2	11	44135735	Splice_Site	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	40290192	44135735	90870781	34	3938											
DPP3	10072	broad.mit.edu	37	chr11	66264824	66264824	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cttgctggaggctggcgaggGactcgttaccatcactccca	12	13	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:66264824G>C	uc001oig.1	+	15	1816	c.1754G>C	c.(1753-1755)gGa>gCa	p.G585A	DPP3_uc001oif.1_Missense_Mutation_p.G585A|DPP3_uc010rpe.1_Missense_Mutation_p.G574A|BBS1_uc001oih.1_5'UTR	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	585					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.G585E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCTGGCGAGGGACTCGTTACC	0.622													29	49					0	0	1	0	0	C	66264824	G	C	66264824	3	2	224	1	0	0	0	0	1	0	0	0	4728	1174	41	4	1812	4	DPP3	11	66264824	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	22129089	66264824	68741692	35	3939											
POLD4	57804	broad.mit.edu	37	chr11	67120989	67120989	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccaggccagcggcgggcaGacaagatgacccagacaaac	14	13	0	4			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:67120989G>A	uc001okn.3	-	1		c.1_splice	c.e1-1		LOC100130987_uc010rpo.1_Intron|POLD4_uc001okm.3_5'UTR			Q9HCU8	DPOD4_HUMAN	Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA.						DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			GCGGCGGGCAGACAAGATGAC	0.637													3	3					0	0	1	0	0	A	67120989	G	A	67120989	5	1	224	1	0	0	0	0	0	0	1	0	12193	957	33	2		2	POLD4	11	67120989	Splice_Site	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	856165	67120989	67885527	36	3940											
C11orf51	25906	broad.mit.edu	37	chr11	71822277	71822277	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgatccagattaaaccacaGagtctcagtcacacgaggga	9	11	2	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:71822277G>A	uc001orv.3	-	2	263	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	C11orf51_uc009ytc.1_Intron|C11orf51_uc001orw.3_Silent_p.L16L	NM_014042	NP_054761	P60006	CK051_HUMAN	Homo sapiens chromosome 11 open reading frame 51 (C11orf51), mRNA.	16						intracellular				endometrium(1)	1						TTAAACCACAGAGTCTCAGTC	0.512													23	82					0	0	1	0	0	A	71822277	G	A	71822277	2	1	224	1	0	0	0	0	0	0	0	1	1646	933	33	2		2	C11orf51	11	71822277	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	4701288	71822277	63184239	37	3941											
FAT3	120114	broad.mit.edu	37	chr11	92533689	92533689	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacaaagcacatacgtagctGaggtgagagagaacgtggct	13	8	0	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:92533689G>A	uc001pdj.4	+	8	7527	c.7510G>A	c.(7510-7512)Gag>Aag	p.E2504K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2504	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATACGTAGCTGAGGTGAGAGA	0.493										TCGA Ovarian(4;0.039)			11	31					0	0	1	0	0	A	92533689	G	A	92533689	3	1	224	1	0	0	0	0	1	0	0	0	5691	1291	45	2	7544	2	FAT3	11	92533689	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	20711412	92533689	42472827	38	3942											
C12orf51	283450	broad.mit.edu	37	chr12	112701951	112701951	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattctcatcaggtttaatCaaaatagtgttactgagaag	7	6	4	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:112701951C>T	uc021reb.1	-	16	2649	c.2253G>A	c.(2251-2253)ttG>ttA	p.L751L	C12orf51_uc010syk.1_Silent_p.L286L|C12orf51_uc001tts.2_Silent_p.L286L|C12orf51_uc001ttt.3_Silent_p.L286L	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CAGGTTTAATCAAAATAGTGT	0.408													4	12					0	0	1	0	0	T	112701951	C	T	112701951	2	4	224	1	0	0	0	0	0	0	0	1	1696	825	29	2		2	C12orf51	12	112701951	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		112701951	21149944	39	3943											
AACS	65985	broad.mit.edu	37	chr12	125612771	125612771	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcctgtgtataaaggggaGattcaggcccggaacctggg	14	9	1	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:125612771G>C	uc001uhc.3	+	12	1580	c.1374G>C	c.(1372-1374)gaG>gaC	p.E458D	AACS_uc001uhd.3_Missense_Mutation_p.E458D|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Missense_Mutation_p.E56D	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	458					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATAAAGGGGAGATTCAGGCCC	0.512													7	20					0	0	1	0	0	C	125612771	G	C	125612771	3	2	224	1	0	0	0	0	1	0	0	0	9	933	33	4	1424	4	AACS	12	125612771	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	12910820	125612771	8239124	40	3944											
SERPINA9	327657	broad.mit.edu	37	chr14	94942490	94942490	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacctttgcaggttcctcttCtcctgccctgtccttgcatg	7	16	2	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:94942490C>T	uc001ydf.3	-	0	181	c.20G>A	c.(19-21)aGa>aAa	p.R7K	SERPINA9_uc001yde.3_Missense_Mutation_p.R7K|SERPINA9_uc010avc.3_5'UTR|SERPINA9_uc001ydg.3_Silent_p.E34E|SERPINA9_uc001ydh.1_Missense_Mutation_p.R7K|SERPINA9_uc001ydi.1_Silent_p.E34E	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	0					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ggttcctcttctcctgccctg	0.532													49	144					0	0	1	0	0	T	94942490	C	T	94942490	3	4	224	1	0	0	0	0	1	0	0	0	14095	913	32	2	1307	2	SERPINA9	14	94942490	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		94942490	12407050	41	3945											
C14orf79	122616	broad.mit.edu	37	chr14	105455319	105455319	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acattttaaagtgtgcttttCaagaaataacagtccagcag	7	7	1	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:105455319C>T	uc001ypy.1	+	1	616	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript	NM_174891	NP_777551	Q96F83	CN079_HUMAN	Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA.	155										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			GTGTGCTTTTCAAGAAATAAC	0.383													29	49					0	0	1	0	0	T	105455319	C	T	105455319	4	4	224	1	0	0	0	0	0	1	0	0	1780	827	29	2	469	2	C14orf79	14	105455319	Nonsense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	10512829	105455319	1894221	42	3946											
CT62	196993	broad.mit.edu	37	chr15	71403760	71403760	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gactgtaggtcagcattccaGagttcctggaggaggaagaa	14	7	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:71403760G>C	uc002ata.2	-	3	654	c.141C>G	c.(139-141)ctC>ctG	p.L47L		NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN	Homo sapiens cancer/testis antigen 62 (CT62), mRNA.	47										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGCATTCCAGAGTTCCTGGA	0.493													6	11					0	0	1	0	0	C	71403760	G	C	71403760	2	2	224	1	0	0	0	0	0	0	0	1	3990	929	33	4		4	CT62	15	71403760	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		71403760	31127632	43	3947											
AKAP13	11214	broad.mit.edu	37	chr15	86205661	86205661	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgcagtactctgctggcctGagtgctgactttaattacag	11	9	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:86205661G>C	uc002blu.1	+	11	4958	c.4788G>C	c.(4786-4788)ctG>ctC	p.L1596L	AKAP13_uc002blt.1_Intron|AKAP13_uc002blv.1_Intron|AKAP13_uc010bnf.1_Intron|AKAP13_uc002blw.1_Intron|AKAP13_uc010bne.1_Intron	NM_006738	NP_006729	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 1, mRNA.	1596					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGCTGGCCTGAGTGCTGACT	0.478													29	75					0	0	1	0	0	C	86205661	G	C	86205661	2	2	224	1	0	0	0	0	0	0	0	1	449	1277	45	4		4	AKAP13	15	86205661	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	14801901	86205661	16325731	44	3948											
ABCC12	94160	broad.mit.edu	37	chr16	48155668	48155668	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaaagagtatgttttctctCacatttccatgaaagatcca	5	10	2	3			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr16:48155668C>T	uc002efc.1	-	10	2017	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.V557V	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	557	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTTTTCTCTCACATTTCCAT	0.433													14	35					0	0	1	0	0	T	48155668	C	T	48155668	2	4	224	1	0	0	0	0	0	0	0	1	52	813	29	2		2	ABCC12	16	48155668	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		48155668	42199085	45	3949											
P4HB	5034	broad.mit.edu	37	chr17	79804400	79804400	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtacttggtcatctcctcctCcagggtgatgaggcgcacgg	13	12	2	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr17:79804400C>G	uc002kbn.1	-	6	1158	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	321					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			ATCTCCTCCTCCAGGGTGATG	0.577													20	59					0	0	1	0	0	G	79804400	C	G	79804400	3	3	224	1	0	0	0	0	1	0	0	0	11359	864	30	4	585	4	P4HB	17	79804400	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		79804400	1390810	46	3950											
C19orf55	148137	broad.mit.edu	37	chr19	36250713	36250713	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgagcccatccaggtctcaGagatccaggctcccacaagc	9	16	1	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:36250713G>C	uc021usz.1	+	2	205	c.132G>C	c.(130-132)caG>caC	p.Q44H	HSPB6_uc002obn.1_5'Flank|C19orf55_uc002obo.1_Missense_Mutation_p.Q44H|C19orf55_uc002obp.3_Missense_Mutation_p.Q44H	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	44										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGTCTCAGAGATCCAGGC	0.577													3	3					0	0	1	0	0	C	36250713	G	C	36250713	3	2	224	1	0	0	0	0	1	0	0	0	1937	933	33	4	142	4	C19orf55	19	36250713	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		36250713	22878270	47	3951											
LIPE	3991	broad.mit.edu	37	chr19	42912472	42912472	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatggccggatggcaggcgtGaactgtggagagacgcggct	18	8	0	2			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:42912472G>A	uc002otr.3	-	2	1699	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	AK311181_uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.F219F	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	474					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	p.F474L(2)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGCAGGCGTGAACTGTGGAG	0.617													25	82					0	0	1	0	0	A	42912472	G	A	42912472	2	1	224	1	0	0	0	0	0	0	0	1	8821	1281	45	2		2	LIPE	19	42912472	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	6661759	42912472	16216511	48	3952											
LMTK3	114783	broad.mit.edu	37	chr19	49005818	49005818	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcggggggccgctgggctcgGaggtaacgcttcaggtcccc	17	13	1	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:49005818G>C	uc002pjk.3	-	7	753	c.753C>G	c.(751-753)ctC>ctG	p.L251L		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTGGGCTCGGAGGTAACGCT	0.697													5	22					0	0	1	0	0	C	49005818	G	C	49005818	2	2	224	1	0	0	0	0	0	0	0	1	8860	1161	41	4		4	LMTK3	19	49005818	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	6093346	49005818	10123165	49	3953											
CHGB	1114	broad.mit.edu	37	chr20	5904455	5904455	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgaggaggaaaatgagctGaccttgaacgagaagaattt	14	4	0	6			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr20:5904455G>A	uc002wmg.3	+	3	1971	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	CHGB_uc010zqz.2_Silent_p.L238L	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	555						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAAATGAGCTGACCTTGAACG	0.453													20	55					0	0	1	0	0	A	5904455	G	A	5904455	2	1	224	1	0	0	0	0	0	0	0	1	3339	1277	45	2		2	CHGB	20	5904455	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		5904455	57121065	50	3954											
TSSK2	23617	broad.mit.edu	37	chr22	19118936	19118936	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgatgccacagtcctaagGaagaagggttacatcgtagg	13	8	0	1			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr22:19118936G>A	uc002zow.2	+	0	616	c.24G>A	c.(22-24)agG>agA	p.R8R	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	8					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGTCCTAAGGAAGAAGGGTT	0.542													10	34					0	0	1	0	0	A	19118936	G	A	19118936	2	1	224	1	0	0	0	0	0	0	0	1	16666	1165	41	2		2	TSSK2	22	19118936	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		19118936	32185630	51	3955											
TMEM47	83604	broad.mit.edu	37	chrX	34648444	34648444	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggttctagtagtagtcttCatagttcttagggttcaggc	11	6	5	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:34648444C>A	uc004ddh.3	-	2	791	c.532G>T	c.(532-534)Gaa>Taa	p.E178*	TMEM47_uc010ngs.3_Non-coding_Transcript	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	Homo sapiens transmembrane protein 47 (TMEM47), mRNA.	178						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TAGTAGTCTTCATAGTTCTTA	0.398													19	48					0	0	1	0	0	A	34648444	C	A	34648444	4	1	224	1	0	0	0	0	0	1	0	0	16168	835	29	4	17	4	TMEM47	23	34648444	Nonsense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		34648444	120622116	52	3956											
ATP11C	286410	broad.mit.edu	37	chrX	138871491	138871491	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataatgcaaatgcaccttatCtactttgtcaaaatatgtta	4	7	2	0			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:138871491C>G	uc004faz.3	-	12	1471	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.D458H	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	458					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V457G(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGCACCTTATCTACTTTGTCA	0.318													8	32					0	0	1	0	0	G	138871491	C	G	138871491	3	3	224	1	0	0	0	0	1	0	0	0	1121	913	32	4	2161	4	ATP11C	23	138871491	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	104223047	138871491	16399069	53	3957											
TAPBP	6892	broad.mit.edu	37	chr6	33281527	33281527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggggcggcggttcccccGgtccctggcgcaacagcagt	16	16	0	0			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr6:33281527G>A	uc003odz.3	-	1	498	c.152C>T	c.(151-153)cCg>cTg	p.P51L	TAPBP_uc003odx.2_Missense_Mutation_p.P51L|TAPBP_uc010jut.2_Missense_Mutation_p.P51L|TAPBP_uc003ody.3_Missense_Mutation_p.P51L|TAPBP_uc011drc.2_Missense_Mutation_p.P51L	NM_172208	NP_757345	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 2, mRNA.	51					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CGGTTCCCCCGGTCCCTGGCG	0.672													7	42					0	0	1	0	0	A	33281527	G	A	33281527	3	1	225	1	0	0	0	0	1	0	0	0	15549	1116	39	1	1402	1	TAPBP	6	33281527	Missense_Mutation	SNP	G	TCGA-EL-A4KH-01A-11D-A257-08		33281527	137833540	1	3958											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				20	43					0	0	1	0	0	T	140453136	A	T	140453136	3	4	225	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4KH-01A-11D-A257-08		140453136	18685527	2	3959											
ZNF777	27153	broad.mit.edu	37	chr7	149152881	149152881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaacacaggagtgagggtCccttctggagcacatgtggc	14	10	1	2			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr7:149152881C>A	uc003wfv.3	-	1	396	c.233G>T	c.(232-234)gGa>gTa	p.G78V		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTGAGGGTCCCTTCTGGAG	0.602													43	74					0	0	1	0	0	A	149152881	C	A	149152881	3	1	225	1	0	0	0	0	1	0	0	0	18147	855	30	4	2282	4	ZNF777	7	149152881	Missense_Mutation	SNP	C	TCGA-EL-A4KH-01A-11D-A257-08	8699745	149152881	9985782	3	3960											
CACNA2D4	93589	broad.mit.edu	37	chr12	1993484	1993484	+	Frame_Shift_Del	DEL	G	G	-													aatgaggtaagtgaaaactcGgacctaacccacaagacaca							TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr12:1993484delG	uc021qsx.1	-	11	1507	c.1276delC	c.(1276-1278)cgafs	p.R426fs	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	426	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTGAAAACTCGGACCTAACCC	0.483													5	7	---	---	---	---						-	1993484	G	-	1993484	7	5	225	1	0	1	0	1	0	0	0	0	2551	1124	39	0	2245	0	CACNA2D4	12	1993484	Frame_Shift_Del	DEL	G	TCGA-EL-A4KH-01A-11D-A257-08		1993484	131858411	4	3961											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			95	49					0	0	1	0	0	C	115256529	T	C	115256529	3	2	226	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08		115256529	133994092	1	3962											
PKP4	8502	broad.mit.edu	37	chr2	159481720	159481720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aataccaaaccaccgccagaGtggggtccccactgaccctg	9	16	0	2			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:159481720G>T	uc002tzv.3	+	6	1194	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L	PKP4_uc002tzt.1_Missense_Mutation_p.V164L|PKP4_uc002tzu.3_Missense_Mutation_p.V312L|PKP4_uc002tzw.3_Missense_Mutation_p.V312L|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.V310L|PKP4_uc002uaa.3_Missense_Mutation_p.V164L	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	312					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CACCGCCAGAGTGGGGTCCCC	0.632										HNSCC(62;0.18)			12	22					0	0	1	0	0	T	159481720	G	T	159481720	3	4	226	1	0	0	0	0	1	0	0	0	11987	1029	36	4	956	4	PKP4	2	159481720	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08		159481720	83717653	2	3963											
TTN	7273	broad.mit.edu	37	chr2	179629473	179629473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatatcacggcacagaagcGggcaggcttgccagactgca	14	11	1	2			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:179629473G>A	uc021vsy.1	-	41	9994	c.9769C>T	c.(9769-9771)Cgc>Tgc	p.R3257C	TTN_uc021vsz.1_Missense_Mutation_p.R3211C|TTN_uc021vta.1_Missense_Mutation_p.R3211C|TTN_uc021vtb.1_Missense_Mutation_p.R3211C|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.R3257C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3257	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACAGAAGCGGGCAGGCTTG	0.507													22	63					0	0	1	0	0	A	179629473	G	A	179629473	3	1	226	1	0	0	0	0	1	0	0	0	16732	1116	39	1	101503	1	TTN	2	179629473	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08	20147753	179629473	63569900	3	3964											
TAF2	6873	broad.mit.edu	37	chr8	120790278	120790278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttatttttcctgttgtcaTtgtacttgattaagtctaaa	5	7	2	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:120790278T>C	uc003you.3	-	17	2615	c.2345A>G	c.(2344-2346)aAt>aGt	p.N782S		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	782					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTGTTGTCATTGTACTTGAT	0.289													5	6					0	0	1	0	0	C	120790278	T	C	120790278	3	2	226	1	0	0	0	0	1	0	0	0	15521	1493	52	3	1290	3	TAF2	8	120790278	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08		120790278	25573744	4	3965											
CDH23	64072	broad.mit.edu	37	chr10	73560398	73560398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccccctactagggtgaCatctatgtgctgtcttctct	7	15	3	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:73560398C>T	uc001jrx.4	+	50	7749	c.7359C>T	c.(7357-7359)gaC>gaT	p.D2453D	CDH23_uc001jsg.4_Silent_p.D216D|CDH23_uc001jsh.4_Silent_p.D216D|CDH23_uc001jsi.4_Silent_p.D216D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2456	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTAGGGTGACATCTATGTGC	0.507													8	8					0	0	1	0	0	T	73560398	C	T	73560398	2	4	226	1	0	0	0	0	0	0	0	1	3108	477	17	2		2	CDH23	10	73560398	Silent	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		73560398	61974349	5	3966											
FAM196A	642938	broad.mit.edu	37	chr10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaaacggtggcaacctccGttttaaacaccctcctgagg	9	13	0	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:128973908G>A	uc001ljv.1	-	3	1308	c.752C>T	c.(751-753)aCg>aTg	p.T251M	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.T251M|FAM196A_uc001lju.1_Missense_Mutation_p.T251M|FAM196A_uc009yap.1_Missense_Mutation_p.T251M	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657													6	16					0	0	1	0	0	A	128973908	G	A	128973908	3	1	226	1	0	0	0	0	1	0	0	0	5528	1145	40	1	699	1	FAM196A	10	128973908	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08	55413510	128973908	6560839	6	3967											
WNT11	7481	broad.mit.edu	37	chr11	75907721	75907721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgcttgcagtgttgcGtctggttcagtgccagggcc	14	12	2	0			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:75907721G>A	uc001oxe.3	-	1	248	c.125C>T	c.(124-126)aCg>aTg	p.T42M	WNT11_uc001oxf.1_Missense_Mutation_p.T42M	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	42					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCAGTGTTGCGTCTGGTTCAG	0.637													5	14					0	0	1	0	0	A	75907721	G	A	75907721	3	1	226	1	0	0	0	0	1	0	0	0	17381	1145	40	1	955	1	WNT11	11	75907721	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08		75907721	59098795	7	3968											
IGSF9B	22997	broad.mit.edu	37	chr11	133801601	133801601	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccatggtccccagagtgttGtaaggcacacaggtataagt	11	10	0	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:133801601G>T	uc001qgx.4	-	8	1431	c.1200C>A	c.(1198-1200)taC>taA	p.Y400*	IGSF9B_uc001qgy.1_Nonsense_Mutation_p.Y242*	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	400	Ig-like 4.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGAGTGTTGTAAGGCACAC	0.602													5	10					0	0	1	0	0	T	133801601	G	T	133801601	4	4	226	1	0	0	0	0	0	1	0	0	7606	1372	48	4	2893	4	IGSF9B	11	133801601	Nonsense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08	57893880	133801601	1204915	8	3969											
GCN1L1	10985	broad.mit.edu	37	chr12	120611492	120611492	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatgcactgcaggtaggcaTgcctcaccgcagatgtggag	13	11	1	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr12:120611492T>A	uc001txo.3	-	13	1344	c.1331A>T	c.(1330-1332)cAt>cTt	p.H444L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	444					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.R443G(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTAGGCATGCCTCACCGC	0.502													6	52					0	0	1	0	0	A	120611492	T	A	120611492	3	1	226	1	0	0	0	0	1	0	0	0	6299	1464	51	5	6864	5	GCN1L1	12	120611492	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08		120611492	13240403	9	3970											
RB1	5925	broad.mit.edu	37	chr13	49039494	49039494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacaccaacaaaaatgactCcaagatcaaggtgtgtgttt	7	9	1	2			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:49039494C>T	uc001vcb.3	+	22	2645	c.2479C>T	c.(2479-2481)Cca>Tca	p.P827S		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	827	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAAATGACTCCAAGATCAAG	0.368		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			24	34					0	0	1	0	0	T	49039494	C	T	49039494	3	4	226	1	0	0	0	0	1	0	0	0	13098	855	30	2	2569	2	RB1	13	49039494	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		49039494	66130384	10	3971											
SLITRK1	114798	broad.mit.edu	37	chr13	84454817	84454817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaggtctcttcttgggCagggggcgccgggagactag	17	9	2	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:84454817C>A	uc001vlk.3	-	0	1712	c.826G>T	c.(826-828)Gcc>Tcc	p.A276S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	276						integral to membrane		p.P275R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTTCTTGGGCAGGGGGCGCC	0.552													20	44					0	0	1	0	0	A	84454817	C	A	84454817	3	1	226	1	0	0	0	0	1	0	0	0	14742	710	25	4	1268	4	SLITRK1	13	84454817	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08	35415323	84454817	30715061	11	3972											
SRRM2	23524	broad.mit.edu	37	chr16	2812763	2812763	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaagaagcaggtccaattCaagcccagaaatgaagaaat	9	7	1	5			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr16:2812763C>T	uc002crk.3	+	10	2783	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L	SRRM2_uc002crj.1_Missense_Mutation_p.S649L|SRRM2_uc002crl.1_Missense_Mutation_p.S745L|SRRM2_uc010bsu.1_Missense_Mutation_p.S649L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	745	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGTCCAATTCAAGCCCAGAA	0.468													15	81					0	0	1	0	0	T	2812763	C	T	2812763	3	4	226	1	0	0	0	0	1	0	0	0	15168	838	29	2	2272	2	SRRM2	16	2812763	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		2812763	87541990	12	3973											
SLC47A1	55244	broad.mit.edu	37	chr17	19463805	19463805	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacatttttactaccgacCggtgagtgctaggattttct	10	8	1	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:19463805C>T	uc002gvx.3	+	12	1192	c.1106_splice	c.e12+1	p.R369_splice	SLC47A1_uc002gvy.1_Splice_Site_p.R369_splice|SLC47A1_uc010vyz.1_Splice_Site_p.R346_splice|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Splice_Site_p.R174_splice|SLC47A1_uc010vza.1_Splice_Site_p.R81_splice|SLC47A1_uc010vzb.1_Splice_Site_p.R103_splice|SLC47A1_uc010vzc.1_Splice_Site_p.R41_splice	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	369						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TACTACCGACCGGTGAGTGCT	0.403													16	61					0	0	1	0	0	T	19463805	C	T	19463805	5	4	226	1	0	0	0	0	0	0	1	0	14647	666	23	1	1151	1	SLC47A1	17	19463805	Splice_Site	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		19463805	61731405	13	3974											
EFCAB5	374786	broad.mit.edu	37	chr17	28380836	28380836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaagatcgacacaaagggTcagtagcagaacaaggatca	10	8	2	2			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:28380836T>C	uc002het.3	+	9	2056	c.1864T>C	c.(1864-1866)Tca>Cca	p.S622P	EFCAB5_uc010wbi.1_Missense_Mutation_p.S365P|EFCAB5_uc010wbj.2_Missense_Mutation_p.S566P|EFCAB5_uc010wbk.2_Missense_Mutation_p.S279P|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.S501P|EFCAB5_uc010csf.3_Missense_Mutation_p.S501P	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	622							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACAAAGGGTCAGTAGCAGA	0.463													38	132					0	0	1	0	0	C	28380836	T	C	28380836	3	2	226	1	0	0	0	0	1	0	0	0	4938	1667	58	3	1902	3	EFCAB5	17	28380836	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08	8917031	28380836	52814374	14	3975											
KCTD2	23510	broad.mit.edu	37	chr17	73055633	73055633	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacgtgtacagagtccTgcagtgtcaggaagaagagc	14	8	1	3			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:73055633T>A	uc002jmp.3	+	3	636	c.569T>A	c.(568-570)cTg>cAg	p.L190Q	KCTD2_uc010dfz.3_Non-coding_Transcript|KCTD2_uc002jmq.3_Non-coding_Transcript	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	190						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					TACAGAGTCCTGCAGTGTCAG	0.567													17	19					0	0	1	0	0	A	73055633	T	A	73055633	3	1	226	1	0	0	0	0	1	0	0	0	8107	1580	55	5	583	5	KCTD2	17	73055633	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08	44674797	73055633	8139577	15	3976											
ECSIT	51295	broad.mit.edu	37	chr19	11624902	11624902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttccccaccaggcgcctgCccaaacaggtcctcaaaggg	10	17	1	0			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:11624902C>T	uc002msb.3	-	2	365	c.231G>A	c.(229-231)ggG>ggA	p.G77G	ECSIT_uc010dyc.2_Silent_p.G77G|ECSIT_uc010dyd.3_Silent_p.G77G|ECSIT_uc010xma.2_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	77					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CAGGCGCCTGCCCAAACAGGT	0.632													19	22					0	0	1	0	0	T	11624902	C	T	11624902	2	4	226	1	0	0	0	0	0	0	0	1	4900	726	26	2		2	ECSIT	19	11624902	Silent	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		11624902	47504081	16	3977											
NWD1	284434	broad.mit.edu	37	chr19	16908636	16908636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgaagacatggtggagaCggctgtttttggtactgaga	14	5	0	4	rs140641936	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:16908636C>T	uc002neu.4	+	15	3820	c.3398C>T	c.(3397-3399)aCg>aTg	p.T1133M	NWD1_uc002net.4_Missense_Mutation_p.T998M|NWD1_uc002nev.4_Missense_Mutation_p.T927M|NWD1_uc021uqg.1_Missense_Mutation_p.T998M	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1133							ATP binding	p.R1132H(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGGTGGAGACGGCTGTTTTT	0.542													102	162					0	0	1	0	0	T	16908636	C	T	16908636	3	4	226	1	0	0	0	0	1	0	0	0	10781	536	19	1	3039	1	NWD1	19	16908636	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08	5283734	16908636	42220347	17	3978											
PRND	23627	broad.mit.edu	37	chr20	4705313	4705313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaagtggaaccggaaggCcctgcccagcactgcccaga	11	14	1	1			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr20:4705313C>T	uc002wkz.3	+	1	187	c.116C>T	c.(115-117)gCc>gTc	p.A39V	PRND_uc021waf.1_Missense_Mutation_p.A39V	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	39	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AACCGGAAGGCCCTGCCCAGC	0.622													4	51					0	0	1	0	0	T	4705313	C	T	4705313	3	4	226	1	0	0	0	0	1	0	0	0	12543	739	26	2	118	2	PRND	20	4705313	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		4705313	58320207	18	3979											
MAGI3	260425	broad.mit.edu	37	chr1	114137161	114137161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtaagaaagccaaagccCctgaagactgtgaagatgga	11	7	0	5			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr1:114137161C>A	uc001edk.3	+	5	1178	c.997C>A	c.(997-999)Cct>Act	p.P333T	MAGI3_uc001edh.3_Missense_Mutation_p.P333T|MAGI3_uc001edi.4_Missense_Mutation_p.P333T|MAGI3_uc010owm.2_Missense_Mutation_p.P333T|MAGI3_uc001edj.3_Missense_Mutation_p.P54T	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	333					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCAAAGCCCCTGAAGACTG	0.368													4	115					0	0	1	0	0	A	114137161	C	A	114137161	3	1	227	1	0	0	0	0	1	0	0	0	9192	623	22	4	1019	4	MAGI3	1	114137161	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		114137161	135113460	1	3980											
NRXN1	9378	broad.mit.edu	37	chr2	50779760	50779760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggaagtccacatgatacCattctccatcattcactttc	4	13	4	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:50779760C>A	uc021vhg.1	-	8	2765	c.1844G>T	c.(1843-1845)tGg>tTg	p.W615L	NRXN1_uc002rxb.4_Missense_Mutation_p.W247L|NRXN1_uc021vhh.1_Missense_Mutation_p.W575L|NRXN1_uc021vhi.1_Missense_Mutation_p.W611L|NRXN1_uc021vhj.1_Missense_Mutation_p.W571L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.	575	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACATGATACCATTCTCCATC	0.463													5	155					0	0	1	0	0	A	50779760	C	A	50779760	3	1	227	1	0	0	0	0	1	0	0	0	10665	595	21	4	3122	4	NRXN1	2	50779760	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		50779760	192419613	2	3981											
GLI2	2736	broad.mit.edu	37	chr2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggccccctgccctcagcGgcagccctgtcatctctgac	10	19	3	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:121708835G>A	uc010flp.3	+	2	301	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_uc010yyu.1_Missense_Mutation_p.G91S|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.G91S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	91					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													6	194					0	0	1	0	0	A	121708835	G	A	121708835	3	1	227	1	0	0	0	0	1	0	0	0	6438	1116	39	1	281	1	GLI2	2	121708835	Missense_Mutation	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08	70929075	121708835	121490538	3	3982											
ADAMTS19	171019	broad.mit.edu	37	chr5	128863519	128863519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcttattctgctccatgaaActccagtaagaaagtcttga	7	9	2	3			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr5:128863519A>T	uc003kvb.1	+	4	1147	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	383	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTCCATGAAACTCCAGTAAG	0.308													48	79					0	0	1	0	0	T	128863519	A	T	128863519	3	4	227	1	0	0	0	0	1	0	0	0	264	43	2	5	1165	5	ADAMTS19	5	128863519	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08		128863519	52051741	4	3983											
GPLD1	2822	broad.mit.edu	37	chr6	24446031	24446031	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcccaaggctctttttctCatctcggatgtgtaacaaat	6	12	3	0			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr6:24446031C>A	uc003ned.1	-	18	1960	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	617						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTCTTTTTCTCATCTCGGATG	0.532													4	105					0	0	1	0	0	A	24446031	C	A	24446031	4	1	227	1	0	0	0	0	0	1	0	0	6614	835	29	4	701	4	GPLD1	6	24446031	Nonsense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		24446031	146669036	5	3984											
AIM1	202	broad.mit.edu	37	chr6	106989150	106989150	+	Frame_Shift_Del	DEL	G	G	-													gtccagagatgtcagctcttGgaactgctttttcaagagaa							TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr6:106989150delG	uc003pri.3	+	0	142	c.13delG	c.(13-15)ggafs	p.G5fs	AIM1_uc003prh.3_Intron	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	0							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		gtcagctcttggaactgcttt	0.438													2	4	---	---	---	---						-	106989150	G	-	106989150	7	5	227	1	0	1	0	1	0	0	0	0	430	1363	47	0		0	AIM1	6	106989150	Frame_Shift_Del	DEL	G	TCGA-EM-A1CS-01A-11D-A13W-08	82543119	106989150	64125917	6	3985											
MUC17	140453	broad.mit.edu	37	chr7	100681033	100681033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatacctctcagcaccacGccggtggccagtcctgaggc	11	15	1	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr7:100681033G>A	uc003uxp.1	+	2	6389	c.6336G>A	c.(6334-6336)acG>acA	p.T2112T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2112	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCCGGTGGCCA	0.498													6	436					0	0	1	0	0	A	100681033	G	A	100681033	2	1	227	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100681033	Silent	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08		100681033	58457630	7	3986											
AMBP	259	broad.mit.edu	37	chr9	116839008	116839008	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accgatggccaggttgtaccActtcccatagatctaggagg	11	11	1	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr9:116839008A>C	uc004bie.4	-	1	393	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G	AMBP_uc011lxk.2_5'UTR|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	44					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGGTTGTACCACTTCCCATAG	0.597													19	49					0	0	1	0	0	C	116839008	A	C	116839008	3	2	227	1	0	0	0	0	1	0	0	0	564	159	6	5	964	5	AMBP	9	116839008	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08		116839008	24374423	8	3987											
DMBT1	1755	broad.mit.edu	37	chr10	124336139	124336139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgccctggatgatgtgCgctgctcaggacacgaatcc	11	13	1	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr10:124336139C>T	uc001lgk.1	+	6	614	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	DMBT1_uc001lgl.1_Missense_Mutation_p.R170C|DMBT1_uc001lgm.1_Missense_Mutation_p.R170C|DMBT1_uc021qaf.1_Missense_Mutation_p.R170C|DMBT1_uc021qag.1_Missense_Mutation_p.R170C|DMBT1_uc021qah.1_Missense_Mutation_p.R170C|DMBT1_uc009xzz.1_Missense_Mutation_p.R170C|DMBT1_uc010qtx.1_Missense_Mutation_p.R170C|DMBT1_uc009yaa.1_Missense_Mutation_p.R22C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	170	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATGATGTGCGCTGCTCAGG	0.587													5	217					0	0	1	0	0	T	124336139	C	T	124336139	3	4	227	1	0	0	0	0	1	0	0	0	4577	768	27	1	534	1	DMBT1	10	124336139	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		124336139	11198608	9	3988											
FRY	10129	broad.mit.edu	37	chr13	32698958	32698958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccaacactggcaataTgcatattgtggcagacctgt	10	10	0	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:32698958T>C	uc001utx.3	+	6	1158	c.662T>C	c.(661-663)aTg>aCg	p.M221T	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTGGCAATATGCATATTGTG	0.438													5	201					0	0	1	0	0	C	32698958	T	C	32698958	3	2	227	1	0	0	0	0	1	0	0	0	6063	1464	51	3	688	3	FRY	13	32698958	Missense_Mutation	SNP	T	TCGA-EM-A1CS-01A-11D-A13W-08		32698958	82470920	10	3989											
ARHGEF7	8874	broad.mit.edu	37	chr13	111870032	111870032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccccttttaggacatgAccgataatagcaacaatcaa	5	11	2	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:111870032A>G	uc001vrs.2	+	5	788	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	ARHGEF7_uc001vrr.2_Missense_Mutation_p.T159A|ARHGEF7_uc001vrt.2_Missense_Mutation_p.T130A|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrw.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrx.4_Missense_Mutation_p.T2A|ARHGEF7_uc010tjo.2_Missense_Mutation_p.T77A	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	180					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTAGGACATGACCGATAATAG	0.378													3	63					0	0	1	0	0	G	111870032	A	G	111870032	3	3	227	1	0	0	0	0	1	0	0	0	911	275	10	3	560	3	ARHGEF7	13	111870032	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08	79171074	111870032	3299846	11	3990											
LBP	3929	broad.mit.edu	37	chr20	37002620	37002620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccttcctctgctgaagcGtgttcagctctacgaccttg	8	16	3	1			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr20:37002620G>A	uc002xic.1	+	13	1399	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	455					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGCTGAAGCGTGTTCAGCTC	0.488													28	79					0	0	1	0	0	A	37002620	G	A	37002620	3	1	227	1	0	0	0	0	1	0	0	0	8651	1145	40	1	1418	1	LBP	20	37002620	Missense_Mutation	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08		37002620	26022900	12	3991											
YY2	404281	broad.mit.edu	37	chrX	21875408	21875408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatgttccgggattacgCcgccatgagaaaacatctcc	9	11	1	2			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:21875408C>T	uc011mjp.2	+	0	1304	c.806C>T	c.(805-807)gCc>gTc	p.A269V	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	269	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGGGATTACGCCGCCATGAGA	0.498													5	310					0	0	1	0	0	T	21875408	C	T	21875408	3	4	227	1	0	0	0	0	1	0	0	0	17506	739	26	2	808	2	YY2	23	21875408	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		21875408	133395152	13	3992											
ARMCX3	51566	broad.mit.edu	37	chrX	100880307	100880307	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaacgggcttcccccaattCagatgataccgttttgtccc	8	13	1	2			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:100880307C>A	uc004ehz.1	+	4	871	c.338C>A	c.(337-339)tCa>tAa	p.S113*	ARMCX3_uc004eia.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eib.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eic.1_Nonsense_Mutation_p.S113*|ARMCX3_uc022cap.1_Nonsense_Mutation_p.S113*	NM_016607	NP_808817	Q9UH62	ARMX3_HUMAN	Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 1, mRNA.	113						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCCCCAATTCAGATGATACC	0.527													13	108					0	0	1	0	0	A	100880307	C	A	100880307	4	1	227	1	0	0	0	0	0	1	0	0	961	838	29	4	340	4	ARMCX3	23	100880307	Nonsense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08	79004899	100880307	54390253	14	3993											
RERE	473	broad.mit.edu	37	chr1	8526058	8526058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcgctgcagggctttgCcagcatcgtaaccgctttca	11	14	1	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:8526058C>T	uc001ape.3	-	11	1940	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	RERE_uc001apf.3_Missense_Mutation_p.G377D|RERE_uc010nzx.1_Missense_Mutation_p.G109D|RERE_uc001aph.1_Missense_Mutation_p.G377D	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	377	ELM2.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGGCTTTGCCAGCATCGTA	0.507													3	45					0	0	1	0	0	T	8526058	C	T	8526058	3	4	228	1	0	0	0	0	1	0	0	0	13231	739	26	2	3622	2	RERE	1	8526058	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		8526058	240724563	1	3994											
DBT	1629	broad.mit.edu	37	chr1	100681607	100681607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactagtataggaacagtcAtgtcttttggctttggtgga	11	5	2	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:100681607A>G	uc001dta.3	-	5	737	c.704T>C	c.(703-705)aTg>aCg	p.M235T	DBT_uc010oug.2_Missense_Mutation_p.M54T|DBT_uc021oqo.1_Missense_Mutation_p.M235T	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	235					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.M235I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGGAACAGTCATGTCTTTTGG	0.373													114	175					0	0	1	0	0	G	100681607	A	G	100681607	3	3	228	1	0	0	0	0	1	0	0	0	4258	217	8	3	768	3	DBT	1	100681607	Missense_Mutation	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08	92155549	100681607	148569014	2	3995											
DENND4B	9909	broad.mit.edu	37	chr1	153906083	153906083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggaggcaggggagtggCgggaaggagtgagcagctgt	23	5	0	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:153906083C>T	uc001fdd.1	-	19	3607	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1069										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGGGAGTGGCGGGAAGGAGT	0.711													6	11					0	0	1	0	0	T	153906083	C	T	153906083	3	4	228	1	0	0	0	0	1	0	0	0	4434	768	27	1	1320	1	DENND4B	1	153906083	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	53224476	153906083	95344538	3	3996											
HMCN1	83872	broad.mit.edu	37	chr1	185969305	185969305	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttacaccctatgacaatgggGagtacatctgtgtggcagtc	11	9	1	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:185969305G>C	uc001grq.1	+	25	4232	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1335	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAATGGGGAGTACATCTG	0.418													67	68					0	0	1	0	0	C	185969305	G	C	185969305	3	2	228	1	0	0	0	0	1	0	0	0	7220	1175	41	4	4105	4	HMCN1	1	185969305	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08	32063222	185969305	63281316	4	3997											
C2orf78	388960	broad.mit.edu	37	chr2	74043556	74043556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaagctcgacatgtttctCggcggccaaaccctctagcc	8	16	3	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr2:74043556C>T	uc002sjr.1	+	2	2327	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	736										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACATGTTTCTCGGCGGCCAAA	0.537													8	195					0	0	1	0	0	T	74043556	C	T	74043556	3	4	228	1	0	0	0	0	1	0	0	0	2195	875	31	1	2216	1	C2orf78	2	74043556	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		74043556	169155817	5	3998											
DNASE1L3	1776	broad.mit.edu	37	chr3	58196616	58196616	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaggagaagcagcagtggGgccagctcccgtgacatcct	15	11	0	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:58196616G>C	uc003djo.1	-	0	115	c.18C>G	c.(16-18)gcC>gcG	p.A6A	DNASE1L3_uc011bfd.1_Silent_p.A6A|DNASE1L3_uc003djp.1_Silent_p.A6A|DNASE1L3_uc003djq.1_Silent_p.A6A	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	6					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCAGCAGTGGGGCCAGCTCCC	0.587													36	57					0	0	1	0	0	C	58196616	G	C	58196616	2	2	228	1	0	0	0	0	0	0	0	1	4663	1219	43	4		4	DNASE1L3	3	58196616	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		58196616	139825814	6	3999											
CCDC39	339829	broad.mit.edu	37	chr3	180334307	180334307	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgctgtattacctgTtgaaagtatgtttgaaggat	12	3	0	3			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:180334307T>C	uc010hxe.3	-	17	2698	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	861					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTATTACCTGTTGAAAGTATG	0.264													24	30					0	0	1	0	0	C	180334307	T	C	180334307	2	2	228	1	0	0	0	0	0	0	0	1	2811	1722	60	3		3	CCDC39	3	180334307	Silent	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08	122137691	180334307	17688123	7	4000											
ADCY2	108	broad.mit.edu	37	chr5	7707861	7707861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggagcacttgaatggCgcttataaagtggaggaggg	15	7	0	1	rs112493968	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr5:7707861C>T	uc003jdz.1	+	8	1378	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	ADCY2_uc011cmo.1_Silent_p.G257G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	437					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGAATGGCGCTTATAAAG	0.413													49	80					0	0	1	0	0	T	7707861	C	T	7707861	2	4	228	1	0	0	0	0	0	0	0	1	294	755	27	1		1	ADCY2	5	7707861	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		7707861	173207399	8	4001											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158671	26158671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagcgctcgaccatcaccTccagggagatccagacggcc	10	16	1	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr6:26158671T>C	uc003ngr.3	+	0	323	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	HIST1H2BD_uc003ngs.3_Missense_Mutation_p.S92P	NM_021063	NP_619790	P58876	H2B1D_HUMAN	Homo sapiens histone cluster 1, H2bd (HIST1H2BD), transcript variant 1, mRNA.	92					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GACCATCACCTCCAGGGAGAT	0.627													62	86					0	0	1	0	0	C	26158671	T	C	26158671	3	2	228	1	0	0	0	0	1	0	0	0	7143	1551	54	3	276	3	HIST1H2BD	6	26158671	Missense_Mutation	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08		26158671	144956396	9	4002											
GPNMB	10457	broad.mit.edu	37	chr7	23293036	23293036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgaaaaactctacccaGtgtggaagcggggagacatg	14	7	1	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:23293036G>T	uc003swc.3	+	1	342	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	GPNMB_uc003swa.2_Missense_Mutation_p.V61L|GPNMB_uc003swb.3_Missense_Mutation_p.V61L|GPNMB_uc011jyy.2_Missense_Mutation_p.V61L|GPNMB_uc011jyz.2_Intron	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	61					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTACCCAGTGTGGAAGCG	0.433													4	80					0	0	1	0	0	T	23293036	G	T	23293036	3	4	228	1	0	0	0	0	1	0	0	0	6620	1029	36	4	187	4	GPNMB	7	23293036	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		23293036	135845627	10	4003											
PIK3CG	5294	broad.mit.edu	37	chr7	106509419	106509419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctgctgctgatagaccaCcgtttcctcctgcgccgtgg	10	15	0	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:106509419C>A	uc003vdv.4	+	1	1498	c.1413C>A	c.(1411-1413)caC>caA	p.H471Q	PIK3CG_uc003vdu.3_Missense_Mutation_p.H471Q|PIK3CG_uc003vdw.3_Missense_Mutation_p.H471Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	471					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATAGACCACCGTTTCCTCC	0.532													46	75					0	0	1	0	0	A	106509419	C	A	106509419	3	1	228	1	0	0	0	0	1	0	0	0	11916	506	18	4	1415	4	PIK3CG	7	106509419	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	83216383	106509419	52629244	11	4004											
DOCK4	9732	broad.mit.edu	37	chr7	111484884	111484884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcggctggtgatctccaAtatggtcctcagcagaatat	11	9	2	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:111484884A>G	uc003vfy.3	-	24	2940	c.2671T>C	c.(2671-2673)Ttg>Ctg	p.L891L	DOCK4_uc003vfw.3_Silent_p.L332L|DOCK4_uc003vfx.3_Silent_p.L891L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	891					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGATCTCCAATATGGTCCTC	0.463													9	174					0	0	1	0	0	G	111484884	A	G	111484884	2	3	228	1	0	0	0	0	0	0	0	1	4689	98	4	3		3	DOCK4	7	111484884	Silent	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08	4975465	111484884	47653779	12	4005											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	66					0	0	1	0	0	T	140453136	A	T	140453136	3	4	228	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08	28968252	140453136	18685527	13	4006											
TEX15	56154	broad.mit.edu	37	chr8	30694875	30694875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgctccaaaagtatgCacagtattgggattcaatgt	9	8	1	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:30694875C>T	uc003xil.3	-	2	7776	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2592										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGTATGCACAGTATTGG	0.378													61	100					0	0	1	0	0	T	30694875	C	T	30694875	2	4	228	1	0	0	0	0	0	0	0	1	15776	697	25	2		2	TEX15	8	30694875	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		30694875	115669147	14	4007											
ZFAND1	79752	broad.mit.edu	37	chr8	82614952	82614952	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attccaagtaagattcaacaTttttacagaattgttcttca	4	7	3	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:82614952T>A	uc003ycj.2	-	7	808	c.785A>T	c.(784-786)aAt>aTt	p.N262I	ZFAND1_uc010lzx.2_Missense_Mutation_p.N255I|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Missense_Mutation_p.N155I|ZFAND1_uc003yck.2_Missense_Mutation_p.N155I	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.	262							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGATTCAACATTTTTACAGAA	0.294													48	73					0	0	1	0	0	A	82614952	T	A	82614952	3	1	228	1	0	0	0	0	1	0	0	0	17623	1493	52	5	25	5	ZFAND1	8	82614952	Missense_Mutation	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08	51920077	82614952	63749070	15	4008											
EPPK1	83481	broad.mit.edu	37	chr8	144940654	144940654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaccagggccgtgccGggccgcagcacgcccttcca	13	18	0	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:144940654G>A	uc003zaa.1	-	0	6781	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726													3	39					0	0	1	0	0	A	144940654	G	A	144940654	2	1	228	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144940654	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08	62325702	144940654	1423368	16	4009											
ATM	472	broad.mit.edu	37	chr11	108178672	108178672	+	Frame_Shift_Del	DEL	C	C	-													ggataaaaaatcacaaagaaCaatgcttgctgttgtggact							TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:108178672delC	uc001pkb.1	+	37	6108	c.5723delC	c.(5722-5724)acafs	p.T1908fs	ATM_uc009yxr.1_Frame_Shift_Del_p.T1908fs|ATM_uc001pke.2_Frame_Shift_Del_p.T560fs|ATM_uc001pkg.1_Frame_Shift_Del_p.T265fs|ATM_uc009yxt.1_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1908					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCACAAAGAACAATGCTTGCT	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			23	43	---	---	---	---						-	108178672	C	-	108178672	7	5	228	1	0	1	0	1	0	0	0	0	1109	478	17	0	5869	0	ATM	11	108178672	Frame_Shift_Del	DEL	C	TCGA-EM-A1CT-01A-11D-A13W-08		108178672	26827844	17	4010											
SCN3B	55800	broad.mit.edu	37	chr11	123513260	123513260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgtagaggccagagtcGttcagagtgacgttgagcac	15	8	1	5	rs142613556		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:123513260G>A	uc001pza.1	-	3	746	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SCN3B_uc001pzb.1_Silent_p.N113N	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	113	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GGCCAGAGTCGTTCAGAGTGA	0.602													5	97					0	0	1	0	0	A	123513260	G	A	123513260	2	1	228	1	0	0	0	0	0	0	0	1	13919	1136	40	1		1	SCN3B	11	123513260	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08	15334588	123513260	11493256	18	4011											
VSIG2	23584	broad.mit.edu	37	chr11	124618648	124618648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggtgagaatgagctggcCagacacctcatctagaggat	13	8	2	4			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:124618648C>T	uc001qas.3	-	4	674	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	VSIG2_uc001qat.3_Missense_Mutation_p.G200S	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	200	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ATGAGCTGGCCAGACACCTCA	0.537													19	28					0	0	1	0	0	T	124618648	C	T	124618648	3	4	228	1	0	0	0	0	1	0	0	0	17221	594	21	2	397	2	VSIG2	11	124618648	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	1105388	124618648	10387868	19	4012											
SLC4A8	9498	broad.mit.edu	37	chr12	51855027	51855027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagtagggaaaggtcaGcagtaccatgagattggcag	15	7	1	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:51855027G>A	uc001rys.1	+	8	1231	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	SLC4A8_uc010sni.2_Silent_p.Q298Q|SLC4A8_uc001rym.3_Silent_p.Q298Q|SLC4A8_uc001ryn.3_Silent_p.Q298Q|SLC4A8_uc001ryo.2_Silent_p.Q298Q|SLC4A8_uc001ryp.1_Silent_p.Q298Q|SLC4A8_uc010snj.2_Silent_p.Q378Q|SLC4A8_uc001ryq.4_Silent_p.Q351Q|SLC4A8_uc001ryr.3_Silent_p.Q351Q|SLC4A8_uc010snk.2_Silent_p.Q298Q	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	351					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGAAAGGTCAGCAGTACCATG	0.378													3	54					0	0	1	0	0	A	51855027	G	A	51855027	2	1	228	1	0	0	0	0	0	0	0	1	14659	962	34	2		2	SLC4A8	12	51855027	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		51855027	81996868	20	4013											
CEP290	80184	broad.mit.edu	37	chr12	88514828	88514828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaattctttatccttttcCctagcatcagcctcagccag	4	14	3	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:88514828C>T	uc001tar.3	-	13	1649	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	CEP290_uc001tat.3_Silent_p.R197R|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	435					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TATCCTTTTCCCTAGCATCAG	0.358													17	44					0	0	1	0	0	T	88514828	C	T	88514828	2	4	228	1	0	0	0	0	0	0	0	1	3253	622	22	2		2	CEP290	12	88514828	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	36659801	88514828	45337067	21	4014											
TMPO	7112	broad.mit.edu	37	chr12	98927427	98927427	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttttgccaaaactgtTgtctctcattcactcactac	3	13	6	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:98927427T>C	uc001tfh.2	+	3	1687	c.1392T>C	c.(1390-1392)gtT>gtC	p.V464V	TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAAACTGTTGTCTCTCATT	0.423													37	57					0	0	1	0	0	C	98927427	T	C	98927427	2	2	228	1	0	0	0	0	0	0	0	1	16234	1799	63	3		3	TMPO	12	98927427	Silent	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08	10412599	98927427	34924468	22	4015											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20220952	20220952	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaacaagagaagatcccAaagaaaatagaaaaacaaaa	6	6	0	4			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:20220952A>T	uc001umg.3	+	2	840	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	MPHOSPH8_uc001umh.3_Nonsense_Mutation_p.K247*|MPHOSPH8_uc001umi.3_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	247	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		agaagatcccaaagaaaatag	0.313													32	48					0	0	1	0	0	T	20220952	A	T	20220952	4	4	228	1	0	0	0	0	0	1	0	0	9727	131	5	5	749	5	MPHOSPH8	13	20220952	Nonsense_Mutation	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08		20220952	94948926	23	4016											
NALCN	259232	broad.mit.edu	37	chr13	101735461	101735461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgacagagagcaacacCgactgggccaggacgagtaa	12	11	0	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:101735461C>T	uc001vox.1	-	31	3861	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1224						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCAACACCGACTGGGCCA	0.413													25	42					0	0	1	0	0	T	101735461	C	T	101735461	2	4	228	1	0	0	0	0	0	0	0	1	10148	639	23	1		1	NALCN	13	101735461	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	81514509	101735461	13434417	24	4017											
SERPINA9	327657	broad.mit.edu	37	chr14	94936076	94936076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggtgctctttgtggaGgaagggcgggggtatgcact	20	6	1	0			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr14:94936076G>A	uc001ydf.3	-	1	317	c.156C>T	c.(154-156)tcC>tcT	p.S52S	SERPINA9_uc001yde.3_Silent_p.S52S|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Intron|SERPINA9_uc001ydh.1_Silent_p.S52S|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	34					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTTTGTGGAGGAAGGGCGGG	0.562													27	50					0	0	1	0	0	A	94936076	G	A	94936076	2	1	228	1	0	0	0	0	0	0	0	1	14095	987	35	2		2	SERPINA9	14	94936076	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		94936076	12413464	25	4018											
ZBTB46	140685	broad.mit.edu	37	chr20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccctccgtactgagacGgtgaaacctgctcttccttg	9	15	1	2			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr20:62421407G>A	uc002ygv.2	-	1	905	c.704C>T	c.(703-705)cCg>cTg	p.P235L	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602													3	43					0	0	1	0	0	A	62421407	G	A	62421407	3	1	228	1	0	0	0	0	1	0	0	0	17544	1116	39	1	1081	1	ZBTB46	20	62421407	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		62421407	604113	26	4019											
TBC1D25	4943	broad.mit.edu	37	chrX	48403341	48403341	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttctatctgactgggacctCagcacagcctttgccactgc	8	15	3	1			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chrX:48403341C>A	uc011mmb.1	+	2	416	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TBC1D25_uc004dka.1_Silent_p.L106L|TBC1D25_uc011mly.1_Silent_p.L48L|TBC1D25_uc004dkb.1_Intron|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_Intron|TBC1D25_uc011mmd.1_5'UTR|TBC1D25_uc011mmc.1_Intron	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	106						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTGGGACCTCAGCACAGCCT	0.562													3	34					0	0	1	0	0	A	48403341	C	A	48403341	2	1	228	1	0	0	0	0	0	0	0	1	15612	813	29	4		4	TBC1D25	23	48403341	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		48403341	106867219	27	4020											
FAM179A	165186	broad.mit.edu	37	chr2	29226385	29226385	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggcaatacctgcacTgcaatgatgagaagatgcag	10	10	1	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:29226385T>A	uc010ezl.3	+	5	1018	c.667T>A	c.(667-669)Tgc>Agc	p.C223S	FAM179A_uc010ymm.2_Missense_Mutation_p.C223S	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	223							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATACCTGCACTGCAATGATGA	0.622													4	4					0	0	1	0	0	A	29226385	T	A	29226385	3	1	229	1	0	0	0	0	1	0	0	0	5505	1580	55	5	685	5	FAM179A	2	29226385	Missense_Mutation	SNP	T	TCGA-EM-A1CU-01A-11D-A13W-08		29226385	213972988	1	4021											
GLI2	2736	broad.mit.edu	37	chr2	121748118	121748118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcccagaactcctcccGcctcaccaccccccgaaact	3	24	2	1	rs138987487	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:121748118G>A	uc010flp.3	+	12	4658	c.4628G>A	c.(4627-4629)cGc>cAc	p.R1543H	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.R1215H|GLI2_uc002tmu.4_Missense_Mutation_p.R1198H	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1543					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACTCCTCCCGCCTCACCACC	0.612													15	112					0	0	1	0	0	A	121748118	G	A	121748118	3	1	229	1	0	0	0	0	1	0	0	0	6438	1087	38	1	4678	1	GLI2	2	121748118	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08	92521733	121748118	121451255	2	4022											
UGT1A1	54658	broad.mit.edu	37	chr2	234669699	234669699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcatctgtctggctgTttagaagtgactttgtgaag	12	7	3	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:234669699T>C	uc002vvb.3	+	0	781	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.F256L	NM_000463	NP_000454	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1), mRNA.	256					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTCTGGCTGTTTAGAAGTGA	0.483													5	184					0	0	1	0	0	C	234669699	T	C	234669699	3	2	229	1	0	0	0	0	1	0	0	0	16941	1725	60	3	768	3	UGT1A1	2	234669699	Missense_Mutation	SNP	T	TCGA-EM-A1CU-01A-11D-A13W-08	112921581	234669699	8529674	3	4023											
CAMKV	79012	broad.mit.edu	37	chr3	49898222	49898222	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggatcttgcggaagagattCttatcatggttctcataatc	9	7	4	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:49898222C>A	uc003cxt.1	-	7	895	c.702G>T	c.(700-702)aaG>aaT	p.K234N	CAMKV_uc011bcy.1_Missense_Mutation_p.K159N|CAMKV_uc003cxv.1_Missense_Mutation_p.K206N|CAMKV_uc003cxw.1_Missense_Mutation_p.K66N|CAMKV_uc003cxx.1_Missense_Mutation_p.K66N|CAMKV_uc003cxu.2_Missense_Mutation_p.K234N|CAMKV_uc011bcz.1_Missense_Mutation_p.K197N|CAMKV_uc011bda.1_Missense_Mutation_p.K191N|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	234	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGAAGAGATTCTTATCATGGT	0.502													21	142					0	0	1	0	0	A	49898222	C	A	49898222	3	1	229	1	0	0	0	0	1	0	0	0	2608	912	32	4	819	4	CAMKV	3	49898222	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		49898222	148124208	4	4024											
BBX	56987	broad.mit.edu	37	chr3	107429455	107429455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaagaggaagacgaagagGaggatattgataaggtaagt	15	1	0	5			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:107429455G>A	uc010hpr.3	+	3	475	c.148G>A	c.(148-150)Gag>Aag	p.E50K	BBX_uc003dwk.4_Missense_Mutation_p.E50K|BBX_uc003dwl.4_Missense_Mutation_p.E50K|BBX_uc010hps.1_Missense_Mutation_p.E71K|BBX_uc003dwm.4_Missense_Mutation_p.E50K	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	50	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			agacgaagaggaggaTATTGA	0.348													6	33					0	0	1	0	0	A	107429455	G	A	107429455	3	1	229	1	0	0	0	0	1	0	0	0	1343	1175	41	2	150	2	BBX	3	107429455	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08	57531233	107429455	90592975	5	4025											
ABCC5	10057	broad.mit.edu	37	chr3	183655701	183655701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcacctgacagtgccaCtgaacagcaccggctcttga	9	15	2	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:183655701C>A	uc003fmg.3	-	25	4007	c.3842G>T	c.(3841-3843)aGt>aTt	p.S1281I	ABCC5_uc011bqt.2_Missense_Mutation_p.S809I|ABCC5_uc010hxl.3_Missense_Mutation_p.S1238I	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1281	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GACAGTGCCACTGAACAGCAC	0.552													9	49					0	0	1	0	0	A	183655701	C	A	183655701	3	1	229	1	0	0	0	0	1	0	0	0	56	565	20	4	491	4	ABCC5	3	183655701	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	76226246	183655701	14366729	6	4026											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027331	26027331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccacgagtctcctcataaatCaaaccggaaattcgcttaac	5	13	3	0			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:26027331C>G	uc003nfr.3	-	0	150	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_003544	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.	50					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTCATAAATCAAACCGGAAA	0.562													25	46					0	0	1	0	0	G	26027331	C	G	26027331	3	3	229	1	0	0	0	0	1	0	0	0	7166	825	29	4	165	4	HIST1H4B	6	26027331	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		26027331	145087736	7	4027											
AIM1	202	broad.mit.edu	37	chr6	106992724	106992724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttggatccaaaggttccaGtattgatgtattgggaattg	11	5	0	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:106992724G>T	uc003prh.3	+	10	4916	c.4004G>T	c.(4003-4005)aGt>aTt	p.S1335I	AIM1_uc003pri.3_Missense_Mutation_p.S139I	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1335	Beta/gamma crystallin 'Greek key' 7.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAGGTTCCAGTATTGATGTA	0.333													23	97					0	0	1	0	0	T	106992724	G	T	106992724	3	4	229	1	0	0	0	0	1	0	0	0	430	1029	36	4	4046	4	AIM1	6	106992724	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08	80965393	106992724	64122343	8	4028											
MUC17	140453	broad.mit.edu	37	chr7	100684160	100684160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaaggtaccagcatgCcaacctcaactcctagtgaa	7	13	2	2			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:100684160C>T	uc003uxp.1	+	2	9516	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3155	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.478													6	382					0	0	1	0	0	T	100684160	C	T	100684160	3	4	229	1	0	0	0	0	1	0	0	0	9974	739	26	2	9473	2	MUC17	7	100684160	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		100684160	58454503	9	4029											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				34	55					0	0	1	0	0	T	140453136	A	T	140453136	3	4	229	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A1CU-01A-11D-A13W-08	39768976	140453136	18685527	10	4030											
TSPAN14	81619	broad.mit.edu	37	chr10	82267030	82267030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccggatgcatggaatcgAccctgtggtgctggtcctga	14	11	0	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr10:82267030A>G	uc001kcj.4	+	3	286	c.179A>G	c.(178-180)gAc>gGc	p.D60G	TSPAN14_uc009xss.3_Intron|TSPAN14_uc001kci.4_Missense_Mutation_p.D43G	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	Homo sapiens tetraspanin 14 (TSPAN14), transcript variant 1, mRNA.	60						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CATGGAATCGACCCTGTGGTG	0.592													3	40					0	0	1	0	0	G	82267030	A	G	82267030	3	3	229	1	0	0	0	0	1	0	0	0	16635	275	10	3	189	3	TSPAN14	10	82267030	Missense_Mutation	SNP	A	TCGA-EM-A1CU-01A-11D-A13W-08		82267030	53267717	11	4031											
IFT46	56912	broad.mit.edu	37	chr11	118422948	118422948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtgtagtgcacagtcgCagggggcttagaacggtgta	16	8	0	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:118422948C>T	uc001pto.2	-	8	1158	c.739G>A	c.(739-741)Gcg>Acg	p.A247T	IFT46_uc001ptp.2_Missense_Mutation_p.A196T	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.	196					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TGCACAGTCGCAGGGGGCTTA	0.443													5	154					0	0	1	0	0	T	118422948	C	T	118422948	3	4	229	1	0	0	0	0	1	0	0	0	7560	710	25	2	348	2	IFT46	11	118422948	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		118422948	16583568	12	4032											
HSPA8	3312	broad.mit.edu	37	chr11	122931873	122931873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacttgattctttgcggCatcaccgatcaaccgttcag	8	12	4	1			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:122931873C>T	uc001pyo.3	-	1	295	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.A54T|HSPA8_uc010rzu.2_Missense_Mutation_p.A54T|HSPA8_uc009zbd.2_Missense_Mutation_p.A54T|HSPA8_uc010rzv.1_Missense_Mutation_p.A54T	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	54					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTTTGCGGCATCACCGATC	0.438													9	64					0	0	1	0	0	T	122931873	C	T	122931873	3	4	229	1	0	0	0	0	1	0	0	0	7416	710	25	2	1812	2	HSPA8	11	122931873	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	4508925	122931873	12074643	13	4033											
NCKAP1L	3071	broad.mit.edu	37	chr12	54936440	54936440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcgaaatgcctatcggGaggtgtctcgggccttccac	12	12	1	0			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:54936440G>A	uc001sgc.4	+	30	3434	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	NCKAP1L_uc010sox.2_Missense_Mutation_p.E661K|NCKAP1L_uc010soy.2_Missense_Mutation_p.E1069K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1119					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.R1118L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCCTATCGGGAGGTGTCTCG	0.542													7	113					0	0	1	0	0	A	54936440	G	A	54936440	3	1	229	1	0	0	0	0	1	0	0	0	10222	1175	41	2	3477	2	NCKAP1L	12	54936440	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		54936440	78915455	14	4034											
OAS3	4940	broad.mit.edu	37	chr12	113388602	113388602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaccaggggccccgccgCgcagagatccttgatgagat	14	12	0	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:113388602C>T	uc001tug.3	+	6	1566	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	493	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCCCCGCCGCGCAGAGATCC	0.582													23	95					0	0	1	0	0	T	113388602	C	T	113388602	2	4	229	1	0	0	0	0	0	0	0	1	10801	755	27	1		1	OAS3	12	113388602	Silent	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	58452162	113388602	20463293	15	4035											
MUC16	94025	broad.mit.edu	37	chr19	9082462	9082462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaaggatgttggggtctcaGatggtgtgaaggttaacgtc	15	5	1	2			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr19:9082462G>A	uc002mkp.3	-	0	9557	c.9353C>T	c.(9352-9354)tCt>tTt	p.S3118F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3119	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGTCTCAGATGGTGTGAA	0.483													5	258					0	0	1	0	0	A	9082462	G	A	9082462	3	1	229	1	0	0	0	0	1	0	0	0	9973	942	33	2	34506	2	MUC16	19	9082462	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		9082462	50046521	16	4036											
SIK1	150094	broad.mit.edu	37	chr21	44836663	44836663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctagggagcagggcatcaGgtcctccatctcacagtccc	11	15	2	0			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr21:44836663G>A	uc002zdf.2	-	13	2438	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	771					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CAGGGCATCAGGTCCTCCATC	0.657													9	26					0	0	1	0	0	A	44836663	G	A	44836663	2	1	229	1	0	0	0	0	0	0	0	1	14317	991	35	2		2	SIK1	21	44836663	Silent	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		44836663	3293232	17	4037											
MAGED1	9500	broad.mit.edu	37	chrX	51644751	51644751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaggccgaagcccggGctgaagcaagaacccgcatg	14	13	0	3			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrX:51644751G>A	uc004dpn.3	+	12	2420	c.2230G>A	c.(2230-2232)Gct>Act	p.A744T	MAGED1_uc004dpm.3_Missense_Mutation_p.A688T|MAGED1_uc004dpo.3_Missense_Mutation_p.A688T	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	688					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CGAAGCCCGGGCTGAAGCAAG	0.577										Multiple Myeloma(10;0.10)			17	5					0	0	1	0	0	A	51644751	G	A	51644751	3	1	229	1	0	0	0	0	1	0	0	0	9183	1203	42	2	2276	2	MAGED1	23	51644751	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		51644751	103625809	18	4038											
SP140	11262	broad.mit.edu	37	chr2	231113619	231113619	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagacctttgatctaaaaacTccccaagtcactaatgaagg	7	10	2	3			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr2:231113619T>A	uc002vql.3	+	8	1027	c.912T>A	c.(910-912)acT>acA	p.T304T	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.T304T|SP140_uc002vqn.3_Silent_p.T251T|SP140_uc002vqm.3_Silent_p.T278T|SP140_uc010fxl.3_Silent_p.T304T	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	304					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATCTAAAAACTCCCCAAGTCA	0.423													24	27					0	0	1	0	0	A	231113619	T	A	231113619	2	1	230	1	0	0	0	0	0	0	0	1	14962	1538	54	5		5	SP140	2	231113619	Silent	SNP	T	TCGA-EM-A1CV-01A-11D-A13W-08		231113619	12085754	1	4039											
EXOC2	55770	broad.mit.edu	37	chr6	637797	637797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatgccggtcacaagggGgggttgtcgtgatcgagaca	17	7	1	3			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr6:637797G>A	uc003mtd.3	-	1	156	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	EXOC2_uc003mte.3_Missense_Mutation_p.P8S|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	8	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCACAAGGGGGGGTTGTCGT	0.473													49	51					0	0	1	0	0	A	637797	G	A	637797	3	1	230	1	0	0	0	0	1	0	0	0	5302	1232	43	2	2860	2	EXOC2	6	637797	Missense_Mutation	SNP	G	TCGA-EM-A1CV-01A-11D-A13W-08		637797	170477270	2	4040											
SVOPL	136306	broad.mit.edu	37	chr7	138305790	138305790	+	Splice_Site	DEL	C	C	-													ctgcagggtccttggctgtaCctgggatataaatggtgcca							TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr7:138305790delC	uc011kqh.2	-	13	1353	c.1353_splice	c.e13+1	p.Q451_splice	SVOPL_uc003vue.3_Splice_Site_p.Q299_splice	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	451						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTTGGCTGTACCTGGGATATA	0.567													8	15	---	---	---	---						-	138305790	C	-	138305790	8	5	230	1	0	1	0	1	0	0	1	0	15421	521	18	0	136	0	SVOPL	7	138305790	Splice_Site	DEL	C	TCGA-EM-A1CV-01A-11D-A13W-08		138305790	20832873	3	4041											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	37					0	0	1	0	0	T	140453136	A	T	140453136	3	4	230	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08	2147346	140453136	18685527	4	4042											
CTNNAL1	8727	broad.mit.edu	37	chr9	111706098	111706098	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtcatcgtctttcagcTgaaatgtaatttaacaagtt	7	7	3	1			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr9:111706098T>A	uc004bdo.1	-	17	1984	c.1942_splice	c.e17-1	p.L648_splice	CTNNAL1_uc010mts.1_Splice_Site_p.L300_splice|CTNNAL1_uc004bdp.1_Splice_Site_p.L648_splice	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	648					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCTTTCAGCTGAAATGTAAT	0.358													14	47					0	0	1	0	0	A	111706098	T	A	111706098	5	1	230	1	0	0	0	0	0	0	1	0	4015	1594	55	5	276	5	CTNNAL1	9	111706098	Splice_Site	SNP	T	TCGA-EM-A1CV-01A-11D-A13W-08		111706098	29507333	5	4043											
PTCHD3	374308	broad.mit.edu	37	chr10	27687711	27687711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtacaaaacatatataaagaCtacaaaatacttggactcac	4	8	1	1			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr10:27687711C>A	uc001itu.2	-	3	1934	c.1816G>T	c.(1816-1818)Gtc>Ttc	p.V606F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	606					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATATAAAGACTACAAAATAC	0.378													19	38					0	0	1	0	0	A	27687711	C	A	27687711	3	1	230	1	0	0	0	0	1	0	0	0	12734	565	20	4	491	4	PTCHD3	10	27687711	Missense_Mutation	SNP	C	TCGA-EM-A1CV-01A-11D-A13W-08		27687711	107847036	6	4044											
SUFU	51684	broad.mit.edu	37	chr10	104353455	104353455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacgggcagggcatcctGgagctgctgcggacagtgcc	17	11	0	0			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr10:104353455G>A	uc001kvy.2	+	4	851	c.660G>A	c.(658-660)ctG>ctA	p.L220L	SUFU_uc001kvw.2_Silent_p.L220L|SUFU_uc001kvx.3_Silent_p.L220L|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	220					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AGGGCATCCTGGAGCTGCTGC	0.612			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				3	28					0	0	1	0	0	A	104353455	G	A	104353455	2	1	230	1	0	0	0	0	0	0	0	1	15367	1335	47	2		2	SUFU	10	104353455	Silent	SNP	G	TCGA-EM-A1CV-01A-11D-A13W-08	76665744	104353455	31181292	7	4045											
CACNA1G	8913	broad.mit.edu	37	chr17	48655862	48655862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacagcaagtactttggCcggggaatcatgatcgccat	13	9	1	1			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr17:48655862C>T	uc002irk.1	+	8	2610	c.2238C>T	c.(2236-2238)ggC>ggT	p.G746G	CACNA1G_uc002iri.1_Silent_p.G746G|CACNA1G_uc002irj.1_Silent_p.G746G|CACNA1G_uc002irl.1_Silent_p.G746G|CACNA1G_uc002irm.1_Silent_p.G746G|CACNA1G_uc002irn.1_Silent_p.G746G|CACNA1G_uc002iro.1_Silent_p.G746G|CACNA1G_uc002irp.1_Silent_p.G746G|CACNA1G_uc002irq.1_Silent_p.G746G|CACNA1G_uc002irr.1_Silent_p.G746G|CACNA1G_uc002irs.1_Silent_p.G746G|CACNA1G_uc002irt.1_Silent_p.G746G|CACNA1G_uc002iru.1_Silent_p.G746G|CACNA1G_uc002irv.1_Silent_p.G746G|CACNA1G_uc002irw.1_Silent_p.G746G|CACNA1G_uc002irx.1_Silent_p.G659G|CACNA1G_uc002iry.1_Silent_p.G659G|CACNA1G_uc002isg.1_Silent_p.G659G|CACNA1G_uc002ish.1_Silent_p.G659G|CACNA1G_uc002isi.1_Silent_p.G659G|CACNA1G_uc002irz.1_Silent_p.G659G|CACNA1G_uc002isa.1_Silent_p.G659G|CACNA1G_uc002isd.1_Silent_p.G659G|CACNA1G_uc002isb.1_Silent_p.G659G|CACNA1G_uc002isc.1_Silent_p.G659G|CACNA1G_uc002ise.1_Silent_p.G659G|CACNA1G_uc002isf.1_Silent_p.G659G	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	746					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTACTTTGGCCGGGGAATCA	0.582													3	45					0	0	1	0	0	T	48655862	C	T	48655862	2	4	230	1	0	0	0	0	0	0	0	1	2544	726	26	2		2	CACNA1G	17	48655862	Silent	SNP	C	TCGA-EM-A1CV-01A-11D-A13W-08		48655862	32539348	8	4046											
NCR1	9437	broad.mit.edu	37	chr19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccttttaaccacagagaCgggactccagaaaggtaagt	9	10	0	2			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr19:55423572C>T	uc002qib.2	+	5	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_uc002qic.2_Missense_Mutation_p.T239M|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Missense_Mutation_p.T145M|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Missense_Mutation_p.T133M	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	240					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512													34	46					0	0	1	0	0	T	55423572	C	T	55423572	3	4	230	1	0	0	0	0	1	0	0	0	10237	536	19	1	741	1	NCR1	19	55423572	Missense_Mutation	SNP	C	TCGA-EM-A1CV-01A-11D-A13W-08		55423572	3705411	9	4047											
USP9X	8239	broad.mit.edu	37	chrX	41073950	41073950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatatcattgtgaaaaAtgcaataaaaaggtacgggc	9	5	1	1			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chrX:41073950A>G	uc004dfb.3	+	33	5952	c.5319A>G	c.(5317-5319)aaA>aaG	p.K1773K	USP9X_uc004dfc.3_Silent_p.K1773K	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1773					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTGTGAAAAATGCAATAAAA	0.323													19	68					0	0	1	0	0	G	41073950	A	G	41073950	2	3	230	1	0	0	0	0	0	0	0	1	17087	98	4	3		3	USP9X	23	41073950	Silent	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08		41073950	114196610	10	4048											
GPR112	139378	broad.mit.edu	37	chrX	135430491	135430491	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataactaaatcttctaaaacAatgcatccaggttgtttgaa	5	7	2	1			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chrX:135430491A>C	uc004ezu.1	+	5	4917	c.4626A>C	c.(4624-4626)acA>acC	p.T1542T	GPR112_uc010nsb.1_Silent_p.T1337T|GPR112_uc010nsc.1_Silent_p.T1309T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1542					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCTAAAACAATGCATCCAG	0.413													5	122					0	0	1	0	0	C	135430491	A	C	135430491	2	2	230	1	0	0	0	0	0	0	0	1	6629	117	5	5		5	GPR112	23	135430491	Silent	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08	94356541	135430491	19840069	11	4049											
MTMR11	10903	broad.mit.edu	37	chr1	149902758	149902758	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaggaaccctgacactgtCatgaagagcaagaaggaaaa	11	8	2	4			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:149902758C>A	uc001etl.4	-	13	1641	c.1390G>T	c.(1390-1392)Gac>Tac	p.D464Y	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.D392Y|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	464	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTGACACTGTCATGAAGAGCA	0.502													16	36					0	0	1	0	0	A	149902758	C	A	149902758	3	1	231	1	0	0	0	0	1	0	0	0	9940	826	29	4	794	4	MTMR11	1	149902758	Missense_Mutation	SNP	C	TCGA-EM-A1CW-01A-21D-A13W-08		149902758	99347863	1	4050											
OR10Z1	128368	broad.mit.edu	37	chr1	158576561	158576561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatgggcctgtactaaCtgcttccttctggctgccat	9	14	2	0			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:158576561C>T	uc010pio.2	+	0	333	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTGTACTAACTGCTTCCTTC	0.567													6	222					0	0	1	0	0	T	158576561	C	T	158576561	2	4	231	1	0	0	0	0	0	0	0	1	10923	564	20	2		2	OR10Z1	1	158576561	Silent	SNP	C	TCGA-EM-A1CW-01A-21D-A13W-08	8673803	158576561	90674060	2	4051											
OR2M3	127062	broad.mit.edu	37	chr1	248366655	248366655	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtccatttctatggctGgttgtgccacacaaattttc	8	10	1	0			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:248366655G>T	uc010pzg.2	+	0	286	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G96V(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTATGGCTGGTTGTGCCAC	0.502													129	310					0	0	1	0	0	T	248366655	G	T	248366655	3	4	231	1	0	0	0	0	1	0	0	0	11011	1348	47	4	288	4	OR2M3	1	248366655	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08	89790094	248366655	883966	3	4052											
GRIA2	2891	broad.mit.edu	37	chr4	158142278	158142278	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtctcttctaacagcatacaGataggtaggtaccctttgtg	9	9	2	1			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr4:158142278G>C	uc003ipm.4	+	0	543	c.84G>C	c.(82-84)caG>caC	p.Q28H	GRIA2_uc011cit.2_Intron|GRIA2_uc021xtr.1_Missense_Mutation_p.Q28H|GRIA2_uc003ipl.4_Missense_Mutation_p.Q28H|GRIA2_uc003ipk.4_Intron|GRIA2_uc010iqh.1_5'Flank	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	28					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACAGCATACAGATAGGTAGGT	0.358													63	215					0	0	1	0	0	C	158142278	G	C	158142278	3	2	231	1	0	0	0	0	1	0	0	0	6768	933	33	4	86	4	GRIA2	4	158142278	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		158142278	33011998	4	4053											
ALDOB	229	broad.mit.edu	37	chr9	104192048	104192048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttcaccttgattcccaCcacgatccccttttccttga	6	15	1	2			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr9:104192048C>T	uc004bbk.2	-	2	395	c.313G>A	c.(313-315)Gtg>Atg	p.V105M		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	105					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TTGATTCCCACCACGATCCCC	0.522													93	254					0	0	1	0	0	T	104192048	C	T	104192048	3	4	231	1	0	0	0	0	1	0	0	0	508	507	18	2	809	2	ALDOB	9	104192048	Missense_Mutation	SNP	C	TCGA-EM-A1CW-01A-21D-A13W-08		104192048	37021383	5	4054											
SNAPC4	6621	broad.mit.edu	37	chr9	139286500	139286500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcctgcttgttgatgctgGggtgctccgagttctgccag	13	11	1	1			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr9:139286500G>T	uc004chh.3	-	8	878	c.869C>A	c.(868-870)cCc>cAc	p.P290H		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	290	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTTGATGCTGGGGTGCTCCGA	0.627													5	138					0	0	1	0	0	T	139286500	G	T	139286500	3	4	231	1	0	0	0	0	1	0	0	0	14837	1232	43	4	3596	4	SNAPC4	9	139286500	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08	35094452	139286500	1926931	6	4055											
PLXDC2	84898	broad.mit.edu	37	chr10	20506361	20506361	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttctcttactagtcaaaaGagaagatgtgtgagaataca	8	5	2	3			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr10:20506361G>C	uc001iqg.1	+	10	1766	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	PLXDC2_uc001iqh.1_Missense_Mutation_p.E328Q|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	377						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGTCAAAAGAGAAGATGTG	0.418													3	58					0	0	1	0	0	C	20506361	G	C	20506361	3	2	231	1	0	0	0	0	1	0	0	0	12118	943	33	4	1171	4	PLXDC2	10	20506361	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		20506361	115028386	7	4056											
PARD3	56288	broad.mit.edu	37	chr10	34985316	34985316	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccatctccatgttccAagcgatgcacctgtatccag	6	15	1	0			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr10:34985316A>C	uc010qej.2	-	1	482	c.152T>G	c.(151-153)tTg>tGg	p.L51W	PARD3_uc010qep.2_Missense_Mutation_p.L51W|PARD3_uc010qeq.2_Missense_Mutation_p.L51W|PARD3_uc010qek.2_Missense_Mutation_p.L51W|PARD3_uc010qel.2_Missense_Mutation_p.L51W|PARD3_uc010qem.2_Missense_Mutation_p.L51W|PARD3_uc010qen.2_Missense_Mutation_p.L51W|PARD3_uc010qeo.2_Missense_Mutation_p.L51W|PARD3_uc001ixr.2_Missense_Mutation_p.L51W|PARD3_uc001ixq.2_Missense_Mutation_p.L51W|PARD3_uc001ixp.2_Missense_Mutation_p.L51W|PARD3_uc001ixu.2_Missense_Mutation_p.L51W	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	51					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.R50G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCATGTTCCAAGCGATGCAC	0.413													38	239					0	0	1	0	0	C	34985316	A	C	34985316	3	2	231	1	0	0	0	0	1	0	0	0	11443	131	5	5	4049	5	PARD3	10	34985316	Missense_Mutation	SNP	A	TCGA-EM-A1CW-01A-21D-A13W-08	14478955	34985316	100549431	8	4057											
SPI1	6688	broad.mit.edu	37	chr11	47380480	47380480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggggggctctgccgctcGccctcctcctcatctgagct	12	16	3	1			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:47380480G>A	uc001nfb.1	-	3	634	c.411C>T	c.(409-411)ggC>ggT	p.G137G	SPI1_uc001nfc.1_Silent_p.G136G|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Silent_p.G130G	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	136					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCTGCCGCTCGCCCTCCTCCT	0.706													3	1					0	0	1	0	0	A	47380480	G	A	47380480	2	1	231	1	0	0	0	0	0	0	0	1	15048	1074	38	1		1	SPI1	11	47380480	Silent	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		47380480	87626036	9	4058											
AHNAK	79026	broad.mit.edu	37	chr11	62287957	62287957	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaggtgccagtctgggccTtgaacgtccacatctgggac	12	11	2	1			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:62287957T>C	uc001ntl.3	-	4	14232	c.13932A>G	c.(13930-13932)caA>caG	p.Q4644Q	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4644				Q -> H (in Ref. 2; AAA69898).	nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTGGGCCTTGAACGTCCA	0.537													5	306					0	0	1	0	0	C	62287957	T	C	62287957	2	2	231	1	0	0	0	0	0	0	0	1	414	1606	56	3		3	AHNAK	11	62287957	Silent	SNP	T	TCGA-EM-A1CW-01A-21D-A13W-08	14907477	62287957	72718559	10	4059											
ATG16L2	89849	broad.mit.edu	37	chr11	72537766	72537766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagacactgtctggacacAaggataaggtgacagctgcc	13	9	1	2			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:72537766A>G	uc001otd.3	+	12	1304	c.1264A>G	c.(1264-1266)Aag>Gag	p.K422E	ATG16L2_uc001ote.3_Missense_Mutation_p.K316E|ATG16L2_uc009ytj.2_Intron	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	422					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTCTGGACACAAGGATAAGGT	0.587													3	136					0	0	1	0	0	G	72537766	A	G	72537766	3	3	231	1	0	0	0	0	1	0	0	0	1092	131	5	3	1314	3	ATG16L2	11	72537766	Missense_Mutation	SNP	A	TCGA-EM-A1CW-01A-21D-A13W-08	10249809	72537766	62468750	11	4060											
NF1	4763	broad.mit.edu	37	chr17	29508804	29508804	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacagactgatatggctgGtaaggatacgattgattttt	10	7	0	3			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr17:29508804G>T	uc002hgg.3	+	7	1113	c.730_splice	c.e7+1	p.E244_splice	NF1_uc002hge.2_Splice_Site_p.E244_splice|NF1_uc002hgf.2_Splice_Site_p.E244_splice|NF1_uc002hgh.3_Splice_Site_p.E244_splice|NF1_uc010csn.2_Splice_Site_p.E104_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	244					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATATGGCTGGTAAGGATACG	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	67					0	0	1	0	0	T	29508804	G	T	29508804	5	4	231	1	0	0	0	0	0	0	1	0	10356	1275	44	4	757	4	NF1	17	29508804	Splice_Site	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		29508804	51686406	12	4061											
ZNF556	80032	broad.mit.edu	37	chr19	2877358	2877358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagactcgaaattgtaatcgTcatctgcgcaagaattgttg	9	7	2	2			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:2877358T>C	uc002lwp.1	+	3	489	c.402T>C	c.(400-402)cgT>cgC	p.R134R	ZNF556_uc002lwq.3_Silent_p.R133R	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R134H(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTGTAATCGTCATCTGCGCA	0.418													4	106					0	0	1	0	0	C	2877358	T	C	2877358	2	2	231	1	0	0	0	0	0	0	0	1	17984	1654	58	3		3	ZNF556	19	2877358	Silent	SNP	T	TCGA-EM-A1CW-01A-21D-A13W-08		2877358	56251625	13	4062											
ZNF211	10520	broad.mit.edu	37	chr19	58152577	58152577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagcctttagccacatAgacacacttgttcaggacca	7	11	1	1			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:58152577A>G	uc002qpr.2	+	5	1218	c.915A>G	c.(913-915)atA>atG	p.I305M	ZNF211_uc010yhb.1_Missense_Mutation_p.I245M|ZNF211_uc002qpp.2_Missense_Mutation_p.I254M|ZNF211_uc002qpq.2_Missense_Mutation_p.I241M|ZNF211_uc002qpt.2_Missense_Mutation_p.I253M|ZNF211_uc010yhc.1_Missense_Mutation_p.I253M|ZNF211_uc010yhe.1_Missense_Mutation_p.I232M|ZNF211_uc010yhd.1_Missense_Mutation_p.I180M	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	241						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAGCCACATAGACACACTTG	0.448													3	163					0	0	1	0	0	G	58152577	A	G	58152577	3	3	231	1	0	0	0	0	1	0	0	0	17764	410	15	3	776	3	ZNF211	19	58152577	Missense_Mutation	SNP	A	TCGA-EM-A1CW-01A-21D-A13W-08	55275219	58152577	976406	14	4063											
RASSF2	9770	broad.mit.edu	37	chr20	4768882	4768882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccactcgtatggaccacGtacaaggcaaactcctctgc	7	16	1	0			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr20:4768882G>A	uc002wld.3	-	7	726	c.672C>T	c.(670-672)taC>taT	p.Y224Y	RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Silent_p.Y224Y	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	224	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TATGGACCACGTACAAGGCAA	0.383													4	132					0	0	1	0	0	A	4768882	G	A	4768882	2	1	231	1	0	0	0	0	0	0	0	1	13086	1140	40	1		1	RASSF2	20	4768882	Silent	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		4768882	58256638	15	4064											
SPRED2	200734	broad.mit.edu	37	chr2	65540763	65540763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaataagagccatccaccGgaggcaaaacttctcgtcgc	10	13	1	1			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr2:65540763G>A	uc002sdr.4	-	5	1664	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	SPRED2_uc010fcw.3_Missense_Mutation_p.R374W	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	377	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GCCATCCACCGGAGGCAAAAC	0.577													3	34					0	0	1	0	0	A	65540763	G	A	65540763	3	1	232	1	0	0	0	0	1	0	0	0	15092	1115	39	1	131	1	SPRED2	2	65540763	Missense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		65540763	177658610	1	4065											
RGPD5	84220	broad.mit.edu	37	chr2	113174792	113174792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccagtaattctctattttCctgcacatctctagtggaaa	5	10	2	0			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr2:113174792C>T	uc002ths.2	-	5	952	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	RGPD5_uc010fkk.2_Intron|RGPD5_uc002tht.1_Intron|RGPD5_uc010yxm.2_Missense_Mutation_p.E254K	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	254					intracellular transport	cytoplasm	binding			central_nervous_system(1)	1						TCTCTATTTTCCTGCACATCT	0.388													56	102					0	0	1	0	0	T	113174792	C	T	113174792	3	4	232	1	0	0	0	0	1	0	0	0	13289	864	30	2	15623	2	RGPD5	2	113174792	Missense_Mutation	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08	47634029	113174792	130024581	2	4066											
ALPK1	80216	broad.mit.edu	37	chr4	113362205	113362205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaataaccagcatgtggAatgtaatgaaatctgccatc	7	8	1	1			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr4:113362205A>G	uc003ian.4	+	14	3898	c.3671A>G	c.(3670-3672)gAa>gGa	p.E1224G	ALPK1_uc003iap.4_Missense_Mutation_p.E1224G|ALPK1_uc011cfx.2_Missense_Mutation_p.E1146G|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.E1052G	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1224	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGCATGTGGAATGTAATGAA	0.383													56	121					0	0	1	0	0	G	113362205	A	G	113362205	3	3	232	1	0	0	0	0	1	0	0	0	544	246	9	3	3721	3	ALPK1	4	113362205	Missense_Mutation	SNP	A	TCGA-EM-A1YA-01A-11D-A14W-08		113362205	77792071	3	4067											
ENPP1	5167	broad.mit.edu	37	chr6	132171195	132171195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctgtgatgctgcctgtGttgagcttggaaactgctgt	14	8	0	2			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr6:132171195G>A	uc011ecf.2	+	2	399	c.379G>A	c.(379-381)Gtt>Att	p.V127I		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	127	SMB 1.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGCTGCCTGTGTTGAGCTTGG	0.413													9	89					0	0	1	0	0	A	132171195	G	A	132171195	3	1	232	1	0	0	0	0	1	0	0	0	5129	1377	48	2	389	2	ENPP1	6	132171195	Missense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		132171195	38943872	4	4068											
SLC10A5	347051	broad.mit.edu	37	chr8	82606560	82606560	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatagcccccaccccctccTgggcacgtgcaggtcattac	9	17	1	1			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr8:82606560T>A	uc011lfs.2	-	0	648	c.648A>T	c.(646-648)ccA>ccT	p.P216P		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	216						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CACCCCCTCCTGGGCACGTGC	0.468													42	73					0	0	1	0	0	A	82606560	T	A	82606560	2	1	232	1	0	0	0	0	0	0	0	1	14377	1567	55	5		5	SLC10A5	8	82606560	Silent	SNP	T	TCGA-EM-A1YA-01A-11D-A14W-08		82606560	63757462	5	4069											
IARS	3376	broad.mit.edu	37	chr9	95050407	95050407	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagctggatactcaaacataCcacaggtaagccatggcaat	8	10	1	0			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr9:95050407C>G	uc004art.1	-	3	533	c.276_splice	c.e3+1	p.V92_splice	IARS_uc004ars.1_Splice_Site|IARS_uc004aru.3_Splice_Site_p.V92_splice|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	92					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTCAAACATACCACAGGTAAG	0.348													3	54					0	0	1	0	0	G	95050407	C	G	95050407	5	3	232	1	0	0	0	0	0	0	1	0	7473	521	18	4	3639	4	IARS	9	95050407	Splice_Site	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08		95050407	46163024	6	4070											
IGSF22	283284	broad.mit.edu	37	chr11	18731052	18731052	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgagtcctcccactgtGtagcaggtgcctgagatggg	14	10	0	2			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr11:18731052G>C	uc009yht.2	-	17	3070	c.2880C>G	c.(2878-2880)taC>taG	p.Y960*	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	859										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTCCCACTGTGTAGCAGGTGC	0.567													4	102					0	0	1	0	0	C	18731052	G	C	18731052	4	2	232	1	0	0	0	0	0	1	0	0	7600	1372	48	4	1124	4	IGSF22	11	18731052	Nonsense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		18731052	116275464	7	4071											
PKM2	5315	broad.mit.edu	37	chr15	72495521	72495521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatggctgcctcagcctcAcgagctatctgtaaggttta	9	11	3	0			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr15:72495521A>G	uc010uki.2	-	9	1770	c.1371T>C	c.(1369-1371)cgT>cgC	p.R457R	PKM2_uc002atr.1_5'Flank|PKM2_uc010bit.1_Silent_p.R388R|PKM2_uc002atx.2_Silent_p.R383R|PKM2_uc002atw.2_Silent_p.R383R|PKM2_uc002aty.2_Intron|PKM2_uc010ukj.2_Intron|PKM2_uc010ukk.2_Intron|PKM2_uc002atv.2_Silent_p.R418R|PKM2_uc010biu.1_Silent_p.R404R	NM_001206796	NP_001193725	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 4, mRNA.	383	Interaction with POU5F1.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	CCTCAGCCTCACGAGCTATCT	0.527													3	42					0	0	1	0	0	G	72495521	A	G	72495521	2	3	232	1	0	0	0	0	0	0	0	1	11977	146	6	3		3	PKM2	15	72495521	Silent	SNP	A	TCGA-EM-A1YA-01A-11D-A14W-08		72495521	30035871	8	4072											
PSG9	5678	broad.mit.edu	37	chr19	43766171	43766171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcacagggaggctctgacCattcatccaccataggtagc	10	12	3	1			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr19:43766171C>A	uc002owd.4	-	2	649	c.550G>T	c.(550-552)Ggt>Tgt	p.G184C	PSG9_uc002owe.4_Missense_Mutation_p.G184C|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.G184C	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	184	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGCTCTGACCATTCATCCAC	0.507													109	165					0	0	1	0	0	A	43766171	C	A	43766171	3	1	232	1	0	0	0	0	1	0	0	0	12662	594	21	4	746	4	PSG9	19	43766171	Missense_Mutation	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08		43766171	15362812	9	4073											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666639	19666639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgctgacgagagatgCgccgcagagcagtcggccgc	15	13	1	3			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr21:19666639C>T	uc002ykw.3	-	20	2465	c.2434G>A	c.(2434-2436)Gca>Aca	p.A812T		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	812	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACGAGAGATGCGCCGCAGAGC	0.567													5	64					0	0	1	0	0	T	19666639	C	T	19666639	3	4	232	1	0	0	0	0	1	0	0	0	16243	768	27	1	645	1	TMPRSS15	21	19666639	Missense_Mutation	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08		19666639	28463256	10	4074											
EIF1AX	1964	broad.mit.edu	37	chrX	20148725	20148726	+	Splice_Site	DNP	GC	GC	AA													tatcagtttcattgattttaGctaaggacacagtaagaaat							TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chrX:20148725_20148726GC>AA	uc004czt.3	-	6	546	c.338_splice	c.e6-1	p.A113_splice		NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	113						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATTGATTTTAGCTAAGGACACA	0.312													22	41					0	0	1	0	0	AA	20148726	GC	AA	20148725	5	1	232	1	0	0	0	0	0	0	1	0	4992	985	34	2	104	2	EIF1AX	23	20148725	Splice_Site	DNP	GC	TCGA-EM-A1YA-01A-11D-A14W-08		20148725	135121835	11	4075											
CASZ1	54897	broad.mit.edu	37	chr1	10720553	10720553	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacatgccgaggaactcggtCatggtggaggccgcgtagtc	15	10	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:10720553C>T	uc001aro.3	-	5	866	c.546G>A	c.(544-546)atG>atA	p.M182I	CASZ1_uc001arp.1_Missense_Mutation_p.M182I|CASZ1_uc009vmx.2_Missense_Mutation_p.M206I|CASZ1_uc001arq.1_Missense_Mutation_p.M41I	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGAACTCGGTCATGGTGGAGG	0.652													5	21					0	0	1	0	0	T	10720553	C	T	10720553	3	4	233	1	0	0	0	0	1	0	0	0	2685	826	29	2	4801	2	CASZ1	1	10720553	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		10720553	238530068	1	4076											
KTI12	112970	broad.mit.edu	37	chr1	52499429	52499429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcaaaacaccacgagcGgcatcctctcagggagcgac	11	16	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:52499429G>A	uc001ctj.1	-	0	44	c.5C>T	c.(4-6)cCg>cTg	p.P2L	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	2							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CACCACGAGCGGCATCCTCTC	0.657													4	11					0	0	1	0	0	A	52499429	G	A	52499429	3	1	233	1	0	0	0	0	1	0	0	0	8584	1116	39	1	1063	1	KTI12	1	52499429	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	41778876	52499429	196751192	2	4077											
BCAR3	8412	broad.mit.edu	37	chr1	94054850	94054850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcgctgagtcgcagaaCtgtccggttgattttgaagt	13	9	0	4			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:94054850C>T	uc001dpz.3	-	4	888	c.613G>A	c.(613-615)Gtt>Att	p.V205I	BCAR3_uc001dqa.3_Missense_Mutation_p.V205I|BCAR3_uc001dqb.3_Missense_Mutation_p.V205I|BCAR3_uc001dpy.3_Missense_Mutation_p.V114I|LOC100129046_uc009wdn.3_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	205	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGTCGCAGAACTGTCCGGTTG	0.582													4	22					0	0	1	0	0	T	94054850	C	T	94054850	3	4	233	1	0	0	0	0	1	0	0	0	1349	565	20	2	1896	2	BCAR3	1	94054850	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	41555421	94054850	155195771	3	4078											
TRIM46	80128	broad.mit.edu	37	chr1	155149705	155149705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcctgacatacatcctggGaaaccaggacacggtacaga	11	11	0	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:155149705G>A	uc001fhs.1	+	4	931	c.848G>A	c.(847-849)gGa>gAa	p.G283E	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.G270E|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.G283E|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.G157E|TRIM46_uc001fhu.1_Missense_Mutation_p.G260E|TRIM46_uc009wpg.1_Missense_Mutation_p.G270E|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	283						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACATCCTGGGAAACCAGGAC	0.612													35	126					0	0	1	0	0	A	155149705	G	A	155149705	3	1	233	1	0	0	0	0	1	0	0	0	16518	1174	41	2	866	2	TRIM46	1	155149705	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	61094855	155149705	94100916	4	4079											
ASPM	259266	broad.mit.edu	37	chr1	197115496	197115496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcggccgcggggccccgCagccccgcgggcggcctccg	16	21	0	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:197115496C>T	uc001gtu.3	-	0	329	c.72G>A	c.(70-72)ctG>ctA	p.L24L	ASPM_uc001gtv.3_Silent_p.L24L|ASPM_uc001gtw.4_5'UTR	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	24					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						cggggccccgcagccccgcgg	0.701													6	21					0	0	1	0	0	T	197115496	C	T	197115496	2	4	233	1	0	0	0	0	0	0	0	1	1056	697	25	2		2	ASPM	1	197115496	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	41965791	197115496	52135125	5	4080											
ID2	3398	broad.mit.edu	37	chr2	8822537	8822537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagatcgccctggactCgcatcccactattgtcagcc	8	17	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr2:8822537C>T	uc002qza.3	+	0	425	c.242C>T	c.(241-243)tCg>tTg	p.S81L		NM_002166	NP_002157	Q02363	ID2_HUMAN	Homo sapiens inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2), mRNA.	81					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	p.S81S(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCCTGGACTCGCATCCCACT	0.587													16	41					0	0	1	0	0	T	8822537	C	T	8822537	3	4	233	1	0	0	0	0	1	0	0	0	7490	893	31	1	244	1	ID2	2	8822537	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		8822537	234376836	6	4081											
CCDC80	151887	broad.mit.edu	37	chr3	112357200	112357200	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagctcgtcctccagctgaGaggcagtaggccggctgagg	16	12	0	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:112357200G>T	uc003dzf.3	-	1	1771	c.1553C>A	c.(1552-1554)tCt>tAt	p.S518Y	CCDC80_uc011bhv.2_Missense_Mutation_p.S518Y|CCDC80_uc003dzg.3_Missense_Mutation_p.S518Y|CCDC80_uc003dzh.1_Missense_Mutation_p.S518Y	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	518	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCCAGCTGAGAGGCAGTAGG	0.473													24	53					0	0	1	0	0	T	112357200	G	T	112357200	3	4	233	1	0	0	0	0	1	0	0	0	2854	942	33	4	1327	4	CCDC80	3	112357200	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		112357200	85665230	7	4082											
MCM2	4171	broad.mit.edu	37	chr3	127335823	127335823	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgtccagccgagccatcttCaccactggccagggggcgtc	13	15	2	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:127335823C>T	uc003ejp.3	+	9	1692	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	MCM2_uc011bkm.2_Silent_p.F415F|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.F498F	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	545	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GAGCCATCTTCACCACTGGCC	0.607													46	75					0	0	1	0	0	T	127335823	C	T	127335823	2	4	233	1	0	0	0	0	0	0	0	1	9386	825	29	2		2	MCM2	3	127335823	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	14978623	127335823	70686607	8	4083											
PLXND1	23129	broad.mit.edu	37	chr3	129324718	129324718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtcggaggggttgaggtcGaaggtgaagagcttggccag	19	6	0	3			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:129324718G>A	uc003emx.2	-	0	865	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	255	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGTTGAGGTCGAAGGTGAAGA	0.657													3	15					0	0	1	0	0	A	129324718	G	A	129324718	2	1	233	1	0	0	0	0	0	0	0	1	12127	1049	37	1		1	PLXND1	3	129324718	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	1988895	129324718	68697712	9	4084											
RPL9	6133	broad.mit.edu	37	chr4	39460022	39460023	+	Missense_Mutation	DNP	GG	GG	AA													caagtctcataccattttctGgaatgtcgacagtctgattg							TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:39460022_39460023GG>AA	uc003gub.3	-	0	185_186	c.37_38CC>TT	c.(37-39)cca>TTa	p.P13L	RPL9_uc003guc.3_Missense_Mutation_p.P13L|RPL9_uc011byk.2_Non-coding_Transcript|RPL9_uc011byl.1_Missense_Mutation_p.P13L|RPL9_uc003gud.1_Missense_Mutation_p.P13L|LIAS_uc003gue.4_5'Flank|LIAS_uc011bym.2_5'Flank|LIAS_uc003guf.3_5'Flank|LIAS_uc003gug.3_5'Flank	NM_001024921	NP_001020092	P32969	RL9_HUMAN	Homo sapiens ribosomal protein L9 (RPL9), transcript variant 2, mRNA.	13					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						ACCATTTTCTGGAATGTCGACA	0.47													11	45					0	0	1	0	0	AA	39460023	GG	AA	39460022	3	1	233	1	0	0	0	0	1	0	0	0	13603	1348	47	2	564	2	RPL9	4	39460022	Missense_Mutation	DNP	GG	TCGA-EM-A1YB-01A-11D-A14W-08		39460022	151694254	10	4085											
RUFY3	22902	broad.mit.edu	37	chr4	71634264	71634264	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttacagtgaattctaCgaacccaatgccctcatgat	5	12	3	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:71634264C>A	uc003hfr.3	+	4	1177	c.582C>A	c.(580-582)taC>taA	p.Y194*	RUFY3_uc003hfp.4_Nonsense_Mutation_p.Y254*|RUFY3_uc003hfq.3_Nonsense_Mutation_p.Y194*|RUFY3_uc011cax.2_Nonsense_Mutation_p.Y212*|RUFY3_uc011cay.2_Nonsense_Mutation_p.Y130*	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	194	RUN.				negative regulation of axonogenesis	filopodium|growth cone		p.F193C(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GTGAATTCTACGAACCCAATG	0.388													4	104					0	0	1	0	0	A	71634264	C	A	71634264	4	1	233	1	0	0	0	0	0	1	0	0	13740	547	19	4	962	4	RUFY3	4	71634264	Nonsense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	32174242	71634264	119520012	11	4086											
INTU	27152	broad.mit.edu	37	chr4	128554328	128554328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catattcctcagcgagtagcGattatgagtaaggttttcaa	9	7	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:128554328G>A	uc003ifk.2	+	0	242	c.139G>A	c.(139-141)Gat>Aat	p.D47N	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	47										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGCGAGTAGCGATTATGAGTA	0.488													5	65					0	0	1	0	0	A	128554328	G	A	128554328	3	1	233	1	0	0	0	0	1	0	0	0	7786	1058	37	1	141	1	INTU	4	128554328	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	56920064	128554328	62599948	12	4087											
USP38	84640	broad.mit.edu	37	chr4	144109022	144109022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattggcaagccttgtgcaGcatattcctcttcagatgat	9	10	2	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:144109022G>A	uc003ijb.3	+	1	1260	c.726G>A	c.(724-726)caG>caA	p.Q242Q	USP38_uc003ija.4_Silent_p.Q242Q|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	242					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GCCTTGTGCAGCATATTCCTC	0.388													3	49					0	0	1	0	0	A	144109022	G	A	144109022	2	1	233	1	0	0	0	0	0	0	0	1	17066	962	34	2		2	USP38	4	144109022	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	15554694	144109022	47045254	13	4088											
CASP3	836	broad.mit.edu	37	chr4	185550615	185550615	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggcacaaagcgactggatGaaccaggagccatcctttga	11	10	0	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:185550615G>A	uc003iwg.3	-	6	898	c.524C>T	c.(523-525)tCa>tTa	p.S175L	CASP3_uc003iwh.3_Silent_p.F215F|CASP3_uc003iwi.3_Silent_p.F215F			P42574	CASP3_HUMAN	Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	0					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GCGACTGGATGAACCAGGAGC	0.393													15	42					0	0	1	0	0	A	185550615	G	A	185550615	3	1	233	1	0	0	0	0	1	0	0	0	2672	1281	45	2	192	2	CASP3	4	185550615	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	41441593	185550615	5603661	14	4089											
CTNND2	1501	broad.mit.edu	37	chr5	10973762	10973762	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtaatttcttgtggaattctGaaatggctggtaggtctcgt	12	5	3	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:10973762G>C	uc003jfa.1	-	21	3626	c.3481C>G	c.(3481-3483)Cag>Gag	p.Q1161E	CTNND2_uc010itt.2_Missense_Mutation_p.Q1070E|CTNND2_uc011cmy.1_Missense_Mutation_p.Q824E|CTNND2_uc011cmz.1_Missense_Mutation_p.Q728E|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.Q753E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1161					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGGAATTCTGAAATGGCTGG	0.532													19	47					0	0	1	0	0	C	10973762	G	C	10973762	3	2	233	1	0	0	0	0	1	0	0	0	4020	1299	45	4	200	4	CTNND2	5	10973762	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		10973762	169941498	15	4090											
MYO10	4651	broad.mit.edu	37	chr5	16689986	16689986	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagtcctatcggccataatGatgtcgatcccattctcctt	6	12	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:16689986G>A	uc003jft.4	-	27	4311	c.3843C>T	c.(3841-3843)atC>atT	p.I1281I	MYO10_uc011cnc.2_Silent_p.I160I|MYO10_uc011cnd.2_Silent_p.I638I|MYO10_uc011cne.2_Silent_p.I638I|MYO10_uc010itx.3_Silent_p.I904I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1281	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGGCCATAATGATGTCGATCC	0.468													3	49					0	0	1	0	0	A	16689986	G	A	16689986	2	1	233	1	0	0	0	0	0	0	0	1	10062	1280	45	2		2	MYO10	5	16689986	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	5716224	16689986	164225274	16	4091											
IRF1	3659	broad.mit.edu	37	chr5	131822017	131822017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccggcacaacttccactGggatgtgccagtcggggaga	14	11	0	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:131822017G>A	uc003kxa.2	-	6	827	c.593C>T	c.(592-594)cCa>cTa	p.P198L	C5orf56_uc010jds.2_Missense_Mutation_p.G60R|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.P198L|IRF1_uc010jdt.2_Missense_Mutation_p.P198L	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	198					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		AACTTCCACTGGGATGTGCCA	0.582													4	88					0	0	1	0	0	A	131822017	G	A	131822017	3	1	233	1	0	0	0	0	1	0	0	0	7827	1348	47	2	400	2	IRF1	5	131822017	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	115132031	131822017	49093243	17	4092											
PCDHB10	56126	broad.mit.edu	37	chr5	140573408	140573408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcactgacttggggaCacccaggctgaaaaccgagc	11	14	1	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:140573408C>T	uc003lix.3	+	0	1457	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	428	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTTGGGGACACCCAGGCTG	0.537													33	46					0	0	1	0	0	T	140573408	C	T	140573408	3	4	233	1	0	0	0	0	1	0	0	0	11535	478	17	2	1285	2	PCDHB10	5	140573408	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	8751391	140573408	40341852	18	4093											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156747	26156747	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcccccggtgtccgagctCattactaaagctgttgccgc	12	14	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:26156747C>T	uc003ngq.3	+	0	189	c.129C>T	c.(127-129)ctC>ctT	p.L43L	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	43	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TGTCCGAGCTCATTACTAAAG	0.627													13	38					0	0	1	0	0	T	26156747	C	T	26156747	2	4	233	1	0	0	0	0	0	0	0	1	7126	813	29	2		2	HIST1H1E	6	26156747	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		26156747	144958320	19	4094											
TRIM10	10107	broad.mit.edu	37	chr6	30121959	30121959	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggagcccagagccgagacGaagccccaagccagcctcac	11	16	1	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:30121959G>A	uc003npo.3	-	6	1309	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	411	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						GAGCCGAGACGAAGCCCCAAG	0.672													11	23					0	0	1	0	0	A	30121959	G	A	30121959	2	1	233	1	0	0	0	0	0	0	0	1	16483	1049	37	1		1	TRIM10	6	30121959	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	3965212	30121959	140993108	20	4095											
FGD2	221472	broad.mit.edu	37	chr6	36983609	36983609	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggcgcccagttccaggtgagGacccgcatcgatgtggccgg	16	13	0	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:36983609G>C	uc010jwp.1	+	8	1266	c.1095G>C	c.(1093-1095)agG>agC	p.R365S	FGD2_uc003ong.2_Missense_Mutation_p.R87S|FGD2_uc011dtv.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	365	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCAGGTGAGGACCCGCATCG	0.612													2	6					0	0	1	0	0	C	36983609	G	C	36983609	3	2	233	1	0	0	0	0	1	0	0	0	5833	1165	41	4	1129	4	FGD2	6	36983609	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	6861650	36983609	134131458	21	4096											
TREM1	54210	broad.mit.edu	37	chr6	41254385	41254385	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcagcccccagagcctggtCttcctcatccttcctgtgca	8	17	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:41254385C>T	uc003oqf.2	-	0	73	c.9G>A	c.(7-9)aaG>aaA	p.K3K	TREM1_uc003oqg.2_Silent_p.K3K|TREM1_uc021yzj.1_Silent_p.K3K	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	3					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	AGAGCCTGGTCTTCCTCATCC	0.582													12	52					0	0	1	0	0	T	41254385	C	T	41254385	2	4	233	1	0	0	0	0	0	0	0	1	16467	912	32	2		2	TREM1	6	41254385	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	4270776	41254385	129860682	22	4097											
NMBR	4829	broad.mit.edu	37	chr6	142409595	142409595	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggcgctgttggtgatgaaGatcttcaccagcatgatgtt	12	7	2	4			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:142409595G>A	uc003qiu.3	-	0	342	c.201C>T	c.(199-201)atC>atT	p.I67I		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	67					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGGTGATGAAGATCTTCACCA	0.602													15	24					0	0	1	0	0	A	142409595	G	A	142409595	2	1	233	1	0	0	0	0	0	0	0	1	10487	932	33	2		2	NMBR	6	142409595	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	101155210	142409595	28705472	23	4098											
SQLE	6713	broad.mit.edu	37	chr8	126033114	126033114	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttgggctgctttctgtGtaagttgtgatggcacagag	14	7	1	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr8:126033114G>A	uc011liq.2	+	10	2458	c.1532_splice	c.e10+1	p.V511_splice		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	511					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGCTTTCTGTGTAAGTTGTGA	0.383													6	17					0	0	1	0	0	A	126033114	G	A	126033114	5	1	233	1	0	0	0	0	0	0	1	0	15127	1391	48	2	1470	2	SQLE	8	126033114	Splice_Site	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		126033114	20330908	24	4099											
FREM1	158326	broad.mit.edu	37	chr9	14824915	14824915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccacctcagtttccttgaCaaccaaatgccgagaaactc	7	14	1	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:14824915C>A	uc003zlm.3	-	11	2773	c.1957G>T	c.(1957-1959)Gtc>Ttc	p.V653F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	653					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTTCCTTGACAACCAAATGC	0.418													8	35					0	0	1	0	0	A	14824915	C	A	14824915	3	1	233	1	0	0	0	0	1	0	0	0	6044	478	17	4	4740	4	FREM1	9	14824915	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		14824915	126388516	25	4100											
PPP6C	5537	broad.mit.edu	37	chr9	127915858	127915858	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccaacctgctcctcggggaCtgatagcccaggtatccaca	10	15	0	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:127915858C>G	uc010mwv.3	-	6	955	c.734G>C	c.(733-735)aGt>aCt	p.S245T	PPP6C_uc004bpg.4_Missense_Mutation_p.S208T|PPP6C_uc010mww.3_Missense_Mutation_p.S186T|PPP6C_uc011lzr.2_Missense_Mutation_p.S61T	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	208					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCCTCGGGGACTGATAGCCCA	0.438													14	10					0	0	1	0	0	G	127915858	C	G	127915858	3	3	233	1	0	0	0	0	1	0	0	0	12407	565	20	4	302	4	PPP6C	9	127915858	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	113090943	127915858	13297573	26	4101											
C9orf116	138162	broad.mit.edu	37	chr9	138391667	138391667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccttgggcgccacaggctCcgcgcacgctctggggcatt	15	15	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:138391667C>T	uc004cft.1	-	0	95	c.31G>A	c.(31-33)Gag>Aag	p.E11K	C9orf116_uc004cfs.1_Missense_Mutation_p.E11K|C9orf116_uc004cfu.1_Non-coding_Transcript|MRPS2_uc004cfv.4_5'Flank	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	Homo sapiens chromosome 9 open reading frame 116 (C9orf116), transcript variant 1, mRNA.	11															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCCACAGGCTCCGCGCACGCT	0.697													4	5					0	0	1	0	0	T	138391667	C	T	138391667	3	4	233	1	0	0	0	0	1	0	0	0	2450	864	30	2	391	2	C9orf116	9	138391667	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	10475809	138391667	2821764	27	4102											
ZDHHC16	84287	broad.mit.edu	37	chr10	99213324	99213324	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccactataaccatcgGtacttcttctctttctgctt	7	12	3	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr10:99213324G>C	uc001knj.3	+	6	960	c.594G>C	c.(592-594)cgG>cgC	p.R198R	ZDHHC16_uc001knk.3_Silent_p.R198R|ZDHHC16_uc001knl.3_Silent_p.R198R|ZDHHC16_uc001knm.3_Silent_p.R133R|ZDHHC16_uc001knn.3_Intron|ZDHHC16_uc010qow.2_Silent_p.R198R	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA.	198					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATAACCATCGGTACTTCTTCT	0.483													5	168					0	0	1	0	0	C	99213324	G	C	99213324	2	2	233	1	0	0	0	0	0	0	0	1	17603	1248	44	4		4	ZDHHC16	10	99213324	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		99213324	36321423	28	4103											
VTI1A	143187	broad.mit.edu	37	chr10	114298090	114298090	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatagcagtggaaaccgGtaagaattctgagagtgagc	12	7	1	3			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr10:114298090G>A	uc001kzz.3	+	5	803	c.427_splice	c.e5+1	p.E143_splice	VTI1A_uc001kzy.3_Splice_Site_p.E143_splice	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.	143					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GTGGAAACCGGTAAGAATTCT	0.453			T	TCF7L2	colorectal								19	61					0	0	1	0	0	A	114298090	G	A	114298090	5	1	233	1	0	0	0	0	0	0	1	0	17232	1275	44	2	446	2	VTI1A	10	114298090	Splice_Site	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	15084766	114298090	21236657	29	4104											
SESN3	143686	broad.mit.edu	37	chr11	94963999	94963999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggtagttggcggcggccGacgggctgccgccgccccgg	19	15	0	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr11:94963999G>A	uc001pfk.1	-	0	248	c.26C>T	c.(25-27)tCg>tTg	p.S9L	SESN3_uc010rug.1_Intron|SESN3_uc001pfl.3_Missense_Mutation_p.S9L	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	9					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GGCGGCGGCCGACGGGCTGCC	0.751													5	9					0	0	1	0	0	A	94963999	G	A	94963999	3	1	233	1	0	0	0	0	1	0	0	0	14126	1059	37	1	1492	1	SESN3	11	94963999	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		94963999	40042517	30	4105											
C11orf53	341032	broad.mit.edu	37	chr11	111154827	111154827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcacgtcaggttactacGgtgtcagaagatctttctta	10	9	5	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr11:111154827G>A	uc001plc.3	+	2	181	c.34G>A	c.(34-36)Ggt>Agt	p.G12S		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	12								p.G12C(2)|p.Y11Y(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGGTTACTACGGTGTCAGAAG	0.502											OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	178					0	0	1	0	0	A	111154827	G	A	111154827	3	1	233	1	0	0	0	0	1	0	0	0	1648	1116	39	1	40	1	C11orf53	11	111154827	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	16190828	111154827	23851689	31	4106											
DNAJC22	79962	broad.mit.edu	37	chr12	49742735	49742735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacctgtacctgggaaGggacagccacgccctgctct	10	17	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr12:49742735G>A	uc001rua.3	+	1	481	c.80G>A	c.(79-81)aGg>aAg	p.R27K	DNAJC22_uc001rub.3_Missense_Mutation_p.R27K	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.	27					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TACCTGGGAAGGGACAGCCAC	0.652													4	78					0	0	1	0	0	A	49742735	G	A	49742735	3	1	233	1	0	0	0	0	1	0	0	0	4641	1000	35	2	82	2	DNAJC22	12	49742735	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		49742735	84109160	32	4107											
RYR3	6263	broad.mit.edu	37	chr15	33833092	33833092	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtagcatcgaagaagGtgtgcttctttaaatgcatt	11	5	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:33833092G>A	uc001zhi.3	+	7	716	c.646_splice	c.e7+1	p.G216_splice	RYR3_uc010bar.3_Splice_Site_p.G216_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	216	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCGAAGAAGGTGTGCTTCTT	0.428													6	62					0	0	1	0	0	A	33833092	G	A	33833092	5	1	233	1	0	0	0	0	0	0	1	0	13770	1275	44	2	673	2	RYR3	15	33833092	Splice_Site	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		33833092	68698300	33	4108											
ZNF710	374655	broad.mit.edu	37	chr15	90617455	90617455	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctccagcaagtttaatctCaagggcaacctgagccggca	10	12	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:90617455C>T	uc002bov.2	+	3	1881	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGTTTAATCTCAAGGGCAACC	0.592													18	33					0	0	1	0	0	T	90617455	C	T	90617455	2	4	233	1	0	0	0	0	0	0	0	1	18112	813	29	2		2	ZNF710	15	90617455	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	56784363	90617455	11913937	34	4109											
SPSB3	90864	broad.mit.edu	37	chr16	1828539	1828539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagtcacagaaggactcGccggtcacgggcaccgcact	12	15	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:1828539G>A	uc002cmu.3	-	2	292	c.201C>T	c.(199-201)ggC>ggT	p.G67G	SPSB3_uc002cmt.3_5'UTR|SPSB3_uc010uvm.2_Silent_p.G122G	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	67					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGAAGGACTCGCCGGTCACGG	0.677													16	58					0	0	1	0	0	A	1828539	G	A	1828539	2	1	233	1	0	0	0	0	0	0	0	1	15113	1074	38	1		1	SPSB3	16	1828539	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		1828539	88526214	35	4110											
SNX29	92017	broad.mit.edu	37	chr16	12121194	12121194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtcacctgtctgtgtgCccagtttgaagccgtcctgc	12	13	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:12121194C>T	uc002dbw.2	+	3	202	c.140C>T	c.(139-141)gCc>gTc	p.A47V	SNX29_uc002dby.4_5'UTR	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGTCTGTGTGCCCAGTTTGAA	0.572													27	57					0	0	1	0	0	T	12121194	C	T	12121194	3	4	233	1	0	0	0	0	1	0	0	0	14898	739	26	2		2	SNX29	16	12121194	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	10292655	12121194	78233559	36	4111											
SLC16A13	201232	broad.mit.edu	37	chr17	6939881	6939881	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatcgcctccataggaatCgcggtgcagcagtttgggag	15	9	0	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:6939881C>T	uc002geh.3	+	0	488	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	60						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCATAGGAATCGCGGTGCAGC	0.637													5	42					0	0	1	0	0	T	6939881	C	T	6939881	2	4	233	1	0	0	0	0	0	0	0	1	14406	874	31	1		1	SLC16A13	17	6939881	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		6939881	74255329	37	4112											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccactcggataagatgctGaggaggggccagacctaaga	13	9	0	4			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:7578275G>A	uc002gim.2	-	5	768	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.3_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.2_Nonsense_Mutation_p.Q153*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(154)|p.P191del(11)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.P191fs*53(4)|p.P191delP(4)|p.P191fs*56(3)|p.Q192H(3)|p.Q192K(3)|p.P191fs*6(2)|p.A189_Q192>E(2)|p.P191fs*15(2)|p.P191L(2)|p.P191R(2)|p.P191S(2)|p.G187fs*16(2)|p.P59delP(2)|p.P191_Q192delPQ(2)|p.P98delP(2)|p.Q192Q(2)|p.Q192del(2)|p.Q192fs*16(2)|p.L188_P191del(2)|p.Q192fs*30(2)|p.K164_P219del(1)|p.P59_E66>Q(1)|p.P191H(1)|p.P191fs*57(1)|p.P191fs*18(1)|p.P191P(1)|p.D186_P191delDGLAPP(1)|p.Q192>XXXXXXXXX(1)|p.P191T(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCC	0.557		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)			9	26					0	0	1	0	0	A	7578275	G	A	7578275	4	1	233	1	0	0	0	0	0	1	0	0	16378	1299	45	2	720	2	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	638394	7578275	73616935	38	4113											
PCGF2	7703	broad.mit.edu	37	chr17	36896590	36896591	+	Missense_Mutation	DNP	CC	CC	TT													gtggcgtcgatgaagtacccCccgcagagggcacacatgag							TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:36896590_36896591CC>TT	uc002hqp.1	-	2	311_312	c.65_66GG>AA	c.(64-66)ggg>gAA	p.G22E		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	22					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TGAAGTACCCCCCGCAGAGGGC	0.624													10	57					0	0	1	0	0	TT	36896591	CC	TT	36896590	3	4	233	1	0	0	0	0	1	0	0	0	11575	610	22	2	1004	2	PCGF2	17	36896590	Missense_Mutation	DNP	CC	TCGA-EM-A1YB-01A-11D-A14W-08	29318315	36896590	44298620	39	4114											
ITGA3	3675	broad.mit.edu	37	chr17	48156836	48156836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatccccacagcgcaggcGgcgacagctggatccagggg	14	14	1	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:48156836G>T	uc010dbm.3	+	20	3085	c.2621G>T	c.(2620-2622)cGg>cTg	p.R874L	ITGA3_uc010dbl.3_Missense_Mutation_p.R874L	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	874					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CAGCGCAGGCGGCGACAGCTG	0.627													4	66					0	0	1	0	0	T	48156836	G	T	48156836	3	4	233	1	0	0	0	0	1	0	0	0	7877	1116	39	4	2703	4	ITGA3	17	48156836	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	11260246	48156836	33038374	40	4115											
NAPG	8774	broad.mit.edu	37	chr18	10526109	10526109	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgactgtggagatggcggctCagaagataaacgaggggctg	17	6	1	4			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr18:10526109C>T	uc002kon.3	+	0	237	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	NAPG_uc010wzr.2_5'UTR	NM_003826	NP_003817	Q99747	SNAG_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.	4					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						GATGGCGGCTCAGAAGATAAA	0.597													3	28					0	0	1	0	0	T	10526109	C	T	10526109	4	4	233	1	0	0	0	0	0	1	0	0	10164	827	29	2	12	2	NAPG	18	10526109	Nonsense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		10526109	67551139	41	4116											
ZNF91	7644	broad.mit.edu	37	chr19	23544777	23544777	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttatgtttagcaagggttGaagaacggctaaaagctttg	11	5	1	2			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr19:23544777G>A	uc002nre.3	-	3	1117	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	ZNF91_uc010xrj.2_Missense_Mutation_p.S303L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	335						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCAAGGGTTGAAGAACGGCT	0.383													20	75					0	0	1	0	0	A	23544777	G	A	23544777	3	1	233	1	0	0	0	0	1	0	0	0	18197	1294	45	2	2575	2	ZNF91	19	23544777	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		23544777	35584206	42	4117											
IL29	282618	broad.mit.edu	37	chr19	39787080	39787080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggctgcagcttggaccGtggtgctggtgactttggtg	16	9	0	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr19:39787080G>A	uc002okv.3	+	0	116	c.19G>A	c.(19-21)Gtg>Atg	p.V7M		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	7					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGCTTGGACCGTGGTGCTGGT	0.567													19	60					0	0	1	0	0	A	39787080	G	A	39787080	3	1	233	1	0	0	0	0	1	0	0	0	7685	1145	40	1	21	1	IL29	19	39787080	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	16242303	39787080	19341903	43	4118											
DCX	1641	broad.mit.edu	37	chrX	110653602	110653602	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggatgtcttatctctttcgtCaaagtgtccaaaatcaagtt	7	8	4	0			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:110653602C>A	uc011msv.2	-	1	440	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	DCX_uc004epd.3_Missense_Mutation_p.D90Y|DCX_uc004epe.3_Missense_Mutation_p.D9Y|DCX_uc004epf.3_Missense_Mutation_p.D9Y|DCX_uc004epg.3_Missense_Mutation_p.D9Y	NM_178152	NP_835365	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 2, mRNA.	90					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCTCTTTCGTCAAAGTGTCCA	0.507													27	112					0	0	1	0	0	A	110653602	C	A	110653602	3	1	233	1	0	0	0	0	1	0	0	0	4318	826	29	4	1096	4	DCX	23	110653602	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		110653602	44616958	44	4119											
CT47B1	643311	broad.mit.edu	37	chrX	120008779	120008779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggcctcctctgaggtcGgttcctctgcggccggttcc	12	17	2	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:120008779G>A	uc011muc.2	-	0	1001	c.746C>T	c.(745-747)cCg>cTg	p.P249L		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	249										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTCTGAGGTCGGTTCCTCTGC	0.692													55	100					0	0	1	0	0	A	120008779	G	A	120008779	3	1	233	1	0	0	0	0	1	0	0	0	3989	1116	39	1	161	1	CT47B1	23	120008779	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	9355177	120008779	35261781	45	4120											
GABRA3	2556	broad.mit.edu	37	chrX	151336929	151336929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cactgggagcagcgcccttgGagatggtggaaaattcagtg	15	8	1	1			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:151336929G>T	uc010ntk.1	-	9	1490	c.1250C>A	c.(1249-1251)tCc>tAc	p.S417Y		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGCGCCCTTGGAGATGGTGGA	0.557													7	248					0	0	1	0	0	T	151336929	G	T	151336929	3	4	233	1	0	0	0	0	1	0	0	0	6162	1174	41	4	232	4	GABRA3	23	151336929	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	31328150	151336929	3933631	46	4121											
LPHN2	23266	broad.mit.edu	37	chr1	82436030	82436030	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atatttgcaggacttctacaCtttttctttttggcagcttt	6	8	2	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr1:82436030C>G	uc001dit.4	+	14	2896	c.2715C>G	c.(2713-2715)caC>caG	p.H905Q	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.H905Q|LPHN2_uc001div.3_Missense_Mutation_p.H905Q|LPHN2_uc009wcd.3_Missense_Mutation_p.H905Q|LPHN2_uc001diw.3_Missense_Mutation_p.H489Q|LPHN2_uc009wce.1_5'UTR	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	918					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTTCTACACTTTTTCTTTT	0.353													43	69					0	0	1	0	0	G	82436030	C	G	82436030	3	3	234	1	0	0	0	0	1	0	0	0	8916	564	20	4	2765	4	LPHN2	1	82436030	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		82436030	166814591	1	4122											
SH3RF3	344558	broad.mit.edu	37	chr2	110036027	110036027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgggatctacccccacGgctgtcccacgggctgcctc	12	18	1	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr2:110036027G>A	uc010ywt.1	+	4	1332	c.1332G>A	c.(1330-1332)acG>acA	p.T444T		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	444							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTACCCCCACGGCTGTCCCAC	0.612													2	3					0	0	1	0	0	A	110036027	G	A	110036027	2	1	234	1	0	0	0	0	0	0	0	1	14260	1103	39	1		1	SH3RF3	2	110036027	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		110036027	133163346	2	4123											
CDCP1	64866	broad.mit.edu	37	chr3	45135081	45135081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgcagctccacaggcaGgtggaggatgtcactgggca	15	10	2	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr3:45135081G>A	uc003com.3	-	5	1450	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	439	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCCACAGGCAGGTGGAGGATG	0.592													8	117					0	0	1	0	0	A	45135081	G	A	45135081	2	1	234	1	0	0	0	0	0	0	0	1	3093	991	35	2		2	CDCP1	3	45135081	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		45135081	152887349	3	4124											
HAPLN1	1404	broad.mit.edu	37	chr5	82940234	82940234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatctgcttttatctttatcCcaaaatccgtagttcctgac	4	11	2	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr5:82940234C>A	uc003kim.3	-	2	794	c.723G>T	c.(721-723)tgG>tgT	p.W241C	HAPLN1_uc003kin.3_Missense_Mutation_p.W241C	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	241	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TATCTTTATCCCAAAATCCGT	0.448													12	90					0	0	1	0	0	A	82940234	C	A	82940234	3	1	234	1	0	0	0	0	1	0	0	0	6954	624	22	4	349	4	HAPLN1	5	82940234	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		82940234	97975026	4	4125											
FLOT1	10211	broad.mit.edu	37	chr6	30707947	30707947	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctctgacctgaagctgataGgccaggtcagcctgtgctcg	13	12	2	3			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr6:30707947G>C	uc003nrm.3	-	7	875	c.711C>G	c.(709-711)gcC>gcG	p.A237A	FLOT1_uc011dmr.2_Silent_p.A189A	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	237						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						GAAGCTGATAGGCCAGGTCAG	0.557													5	23					0	0	1	0	0	C	30707947	G	C	30707947	2	2	234	1	0	0	0	0	0	0	0	1	5936	987	35	4		4	FLOT1	6	30707947	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		30707947	140407120	5	4126											
AKR1D1	6718	broad.mit.edu	37	chr7	137792293	137792293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttgtcattcctaaaagCtttaatcttgaaaggatcaa	8	6	3	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr7:137792293C>T	uc003vtz.3	+	6	909	c.822C>T	c.(820-822)agC>agT	p.S274S	AKR1D1_uc011kqf.2_Silent_p.S233S|AKR1D1_uc011kqe.1_Silent_p.S274S|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	274					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTCCTAAAAGCTTTAATCTTG	0.358													7	150					0	0	1	0	0	T	137792293	C	T	137792293	2	4	234	1	0	0	0	0	0	0	0	1	473	796	28	2		2	AKR1D1	7	137792293	Silent	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		137792293	21346370	6	4127											
VLDLR	7436	broad.mit.edu	37	chr9	2635558	2635558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactgtgttgacggcagtgAtgaaaagaactgtggtaagt	14	4	0	5			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:2635558A>G	uc003zhk.1	+	1	585	c.188A>G	c.(187-189)gAt>gGt	p.D63G	VLDLR_uc003zhl.1_Missense_Mutation_p.D63G|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	63	LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACGGCAGTGATGAAAAGAAC	0.373													5	140					0	0	1	0	0	G	2635558	A	G	2635558	3	3	234	1	0	0	0	0	1	0	0	0	17171	333	12	3	194	3	VLDLR	9	2635558	Missense_Mutation	SNP	A	TCGA-EM-A1YC-01A-11D-A14W-08		2635558	138577873	7	4128											
SHB	6461	broad.mit.edu	37	chr9	38068356	38068356	+	Frame_Shift_Del	DEL	T	T	-													gcgacgagccaggcccgttgTaggggtcctcgaagtctcgc							TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:38068356delT	uc004aax.3	-	0	855	c.287delA	c.(286-288)tacfs	p.Y96fs		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	96	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		AGGCCCGTTGTAGGGGTCCTC	0.706													2	4	---	---	---	---						-	38068356	T	-	38068356	7	5	234	1	0	1	0	1	0	0	0	0	14268	1638	57	0	1266	0	SHB	9	38068356	Frame_Shift_Del	DEL	T	TCGA-EM-A1YC-01A-11D-A14W-08	35432798	38068356	103145075	8	4129											
RUFY2	55680	broad.mit.edu	37	chr10	70164495	70164495	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaggggggatagtcagaAtccaaagtgcggccaaagct	14	8	1	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr10:70164495A>T	uc001job.3	-	1	543	c.216T>A	c.(214-216)gaT>gaA	p.D72E	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.D37E|RUFY2_uc010qiw.2_Intron|RUFY2_uc001jod.1_Missense_Mutation_p.D37E|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.D37E	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	86						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GATAGTCAGAATCCAAAGTGC	0.393													6	88					0	0	1	0	0	T	70164495	A	T	70164495	3	4	234	1	0	0	0	0	1	0	0	0	13739	98	4	5	1890	5	RUFY2	10	70164495	Missense_Mutation	SNP	A	TCGA-EM-A1YC-01A-11D-A14W-08		70164495	65370252	9	4130											
SUV420H1	51111	broad.mit.edu	37	chr11	67925581	67925581	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtctttgcttaacttgatGcttattttggaagagttcat	9	5	2	2			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:67925581G>C	uc001onm.1	-	10	2488	c.2232C>G	c.(2230-2232)agC>agG	p.S744R	SUV420H1_uc009yse.1_Missense_Mutation_p.S330R|SUV420H1_uc001onn.1_Missense_Mutation_p.S572R|SUV420H1_uc009ysf.2_Missense_Mutation_p.S504R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	744					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTAACTTGATGCTTATTTTGG	0.368													4	250					0	0	1	0	0	C	67925581	G	C	67925581	3	2	234	1	0	0	0	0	1	0	0	0	15411	1310	46	4	429	4	SUV420H1	11	67925581	Missense_Mutation	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		67925581	67080935	10	4131											
INPPL1	3636	broad.mit.edu	37	chr11	71943766	71943766	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcgtttcacacacctcttCtggtttggggacctcaacta	8	13	4	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:71943766C>T	uc001osf.3	+	14	1956	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	INPPL1_uc001osg.3_Silent_p.F361F	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	603					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACACCTCTTCTGGTTTGGGG	0.582													6	93					0	0	1	0	0	T	71943766	C	T	71943766	2	4	234	1	0	0	0	0	0	0	0	1	7761	912	32	2		2	INPPL1	11	71943766	Silent	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08	4018185	71943766	63062750	11	4132											
ATM	472	broad.mit.edu	37	chr11	108216586	108216586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggatccagctatttgGtttgagaagcgattggctta	11	6	1	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:108216586G>T	uc001pkb.1	+	57	8920	c.8535G>T	c.(8533-8535)tgG>tgT	p.W2845C	ATM_uc009yxr.1_Missense_Mutation_p.W2845C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.W1497C	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2845	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.W2845*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CAGCTATTTGGTTTGAGAAGC	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			98	80					0	0	1	0	0	T	108216586	G	T	108216586	3	4	234	1	0	0	0	0	1	0	0	0	1109	1270	44	4	8761	4	ATM	11	108216586	Missense_Mutation	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08	36272820	108216586	26789930	12	4133											
KDM6B	23135	broad.mit.edu	37	chr17	7752257	7752257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcccgggagcgcagggCgggcgaagagccagtcccgg	20	13	0	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:7752257C>T	uc002giw.1	+	10	3027	c.2651C>T	c.(2650-2652)gCg>gTg	p.A884V	KDM6B_uc002gix.3_Missense_Mutation_p.A186V	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	884	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGCGCAGGGCGGGCGAAGAG	0.692													3	12					0	0	1	0	0	T	7752257	C	T	7752257	3	4	234	1	0	0	0	0	1	0	0	0	8138	768	27	1	2681	1	KDM6B	17	7752257	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		7752257	73442953	13	4134											
DNAH9	1770	broad.mit.edu	37	chr17	11584043	11584043	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtttcctttgcaggagCtgcctgagaaatggaacaac	12	8	0	2			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:11584043C>G	uc002gne.3	+	18	3648	c.3580C>G	c.(3580-3582)Ctg>Gtg	p.L1194V	DNAH9_uc010coo.3_Missense_Mutation_p.L488V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1194	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1193E(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGCAGGAGCTGCCTGAGAA	0.527													3	20					0	0	1	0	0	G	11584043	C	G	11584043	3	3	234	1	0	0	0	0	1	0	0	0	4608	796	28	4	3654	4	DNAH9	17	11584043	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08	3831786	11584043	69611167	14	4135											
C18orf34	374864	broad.mit.edu	37	chr18	30554616	30554616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtgctcctgccacagTgtgtgcatccttctctgcag	10	12	1	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr18:30554616T>C	uc010xbr.1	-	21	2632	c.2490A>G	c.(2488-2490)acA>acG	p.T830T	C18orf34_uc010xbq.1_Non-coding_Transcript|C18orf34_uc010dme.1_Silent_p.T270T|C18orf34_uc002kxn.2_Silent_p.T806T|C18orf34_uc010dmf.1_Silent_p.T126T|C18orf34_uc002kxo.2_Silent_p.T768T|C18orf34_uc002kxp.3_Silent_p.T806T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	806										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CCTGCCACAGTGTGTGCATCC	0.493													12	19					0	0	1	0	0	C	30554616	T	C	30554616	2	2	234	1	0	0	0	0	0	0	0	1	1902	1683	59	3		3	C18orf34	18	30554616	Silent	SNP	T	TCGA-EM-A1YC-01A-11D-A14W-08		30554616	47522632	15	4136											
TRAPPC10	7109	broad.mit.edu	37	chr21	45483558	45483558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagatctgcgcagttacctGttctctcgccagtgcacctt	8	13	2	1			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr21:45483558G>A	uc002zea.3	+	6	1099	c.930G>A	c.(928-930)ctG>ctA	p.L310L	TRAPPC10_uc010gpo.3_Silent_p.L21L	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	310					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCAGTTACCTGTTCTCTCGCC	0.582													4	73					0	0	1	0	0	A	45483558	G	A	45483558	2	1	234	1	0	0	0	0	0	0	0	1	16454	1364	48	2		2	TRAPPC10	21	45483558	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		45483558	2646337	16	4137											
EGFL6	25975	broad.mit.edu	37	chrX	13624630	13624630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggacgatatgactgtaTaggtaagattcgatggcacc	12	7	0	2	rs151014946	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:13624630T>C	uc004cvj.3	+	5	940	c.653T>C	c.(652-654)aTa>aCa	p.I218T	EGFL6_uc004cvi.3_Missense_Mutation_p.I218T|EGFL6_uc011mik.1_Missense_Mutation_p.I119T	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	218					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TATGACTGTATAGGTAAGATT	0.398													17	180					0	0	1	0	0	C	13624630	T	C	13624630	3	2	234	1	0	0	0	0	1	0	0	0	4963	1406	49	3	675	3	EGFL6	23	13624630	Missense_Mutation	SNP	T	TCGA-EM-A1YC-01A-11D-A14W-08		13624630	141645930	17	4138											
TMEM35	59353	broad.mit.edu	37	chrX	100349805	100349805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcccatgctctggtgtttGgaatcctgctcacttgccgc	10	14	2	0			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:100349805G>A	uc004egw.3	+	1	520	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	Homo sapiens transmembrane protein 35 (TMEM35), mRNA.	122						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TCTGGTGTTTGGAATCCTGCT	0.557													17	131					0	0	1	0	0	A	100349805	G	A	100349805	3	1	234	1	0	0	0	0	1	0	0	0	16154	1349	47	2	370	2	TMEM35	23	100349805	Missense_Mutation	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08	86725175	100349805	54920755	18	4139											
NRP2	8828	broad.mit.edu	37	chr2	206630290	206630290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcccactggagaactgCatgggtatgtgaatatctgt	12	7	1	2			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr2:206630290C>T	uc002vaw.3	+	13	3191	c.2400C>T	c.(2398-2400)tgC>tgT	p.C800C	NRP2_uc002vau.3_Silent_p.C800C|NRP2_uc002vav.3_Silent_p.C800C|NRP2_uc002vax.3_Silent_p.C800C|NRP2_uc002vay.3_Silent_p.C800C	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	800	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGGAGAACTGCATGGGTATGT	0.478													4	96					0	0	1	0	0	T	206630290	C	T	206630290	2	4	235	1	0	0	0	0	0	0	0	1	10661	718	25	2		2	NRP2	2	206630290	Silent	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		206630290	36569083	1	4140											
ZFP42	132625	broad.mit.edu	37	chr4	188924090	188924090	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggcggaaatagaacctgtCagcgcggtgtgggccttatg	15	9	1	1			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr4:188924090C>T	uc003izh.1	+	3	537	c.129C>T	c.(127-129)gtC>gtT	p.V43V	ZFP42_uc003izi.1_Silent_p.V43V|ZFP42_uc021xvm.1_Silent_p.V43V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	43					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P42H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TAGAACCTGTCAGCGCGGTGT	0.562													25	40					0	0	1	0	0	T	188924090	C	T	188924090	2	4	235	1	0	0	0	0	0	0	0	1	17647	813	29	2		2	ZFP42	4	188924090	Silent	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		188924090	2230186	2	4141											
SKAP2	8935	broad.mit.edu	37	chr7	26766512	26766512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactacaacctgatatatacGtttatcaggagcagagattt	7	7	1	2			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr7:26766512G>A	uc003syc.3	-	6	876	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	SKAP2_uc011jzi.2_Missense_Mutation_p.R23C|SKAP2_uc011jzj.2_Missense_Mutation_p.R180C	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	195	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.R195G(2)|p.R195H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TGATATATACGTTTATCAGGA	0.303													15	34					0	0	1	0	0	A	26766512	G	A	26766512	3	1	235	1	0	0	0	0	1	0	0	0	14356	1145	40	1	520	1	SKAP2	7	26766512	Missense_Mutation	SNP	G	TCGA-EM-A1YD-01A-11D-A14W-08		26766512	132372151	3	4142											
WT1	7490	broad.mit.edu	37	chr11	32414222	32414222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acctacaaacctgtatgtctCctttggtgtcttttgagctg	8	10	2	1			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr11:32414222C>A	uc001mtn.2	-	7	1519	c.1329G>T	c.(1327-1329)agG>agT	p.R443S	WT1_uc001mtl.2_Missense_Mutation_p.R231S|WT1_uc001mtm.2_Missense_Mutation_p.R214S|WT1_uc001mto.2_Missense_Mutation_p.R443S|WT1_uc001mtq.2_Missense_Mutation_p.R426S|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	375					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.M442fs*9(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CTGTATGTCTCCTTTGGTGTC	0.438			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				4	32					0	0	1	0	0	A	32414222	C	A	32414222	3	1	235	1	0	0	0	0	1	0	0	0	17405	854	30	4	236	4	WT1	11	32414222	Missense_Mutation	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		32414222	102592294	4	4143											
KRT79	338785	broad.mit.edu	37	chr12	53225273	53225273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctctgaagtctgtccagCgtgctccgcatgctacccag	10	15	2	1			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr12:53225273C>T	uc001sbb.3	-	1	648	c.615G>A	c.(613-615)acG>acA	p.T205T	KRT79_uc001sba.3_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	205	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.T205M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTGTCCAGCGTGCTCCGCA	0.607													22	83					0	0	1	0	0	T	53225273	C	T	53225273	2	4	235	1	0	0	0	0	0	0	0	1	8492	755	27	1		1	KRT79	12	53225273	Silent	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		53225273	80626622	5	4144											
ZNF319	57567	broad.mit.edu	37	chr16	58031260	58031260	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggcgtgcacgggtgctGcagcagctccgacgactcct	13	14	0	0			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr16:58031260G>A	uc002emx.1	-	1	1533	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	ZNF319_uc021tjd.1_Nonsense_Mutation_p.Q304*	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CACGGGTGCTGCAGCAGCTCC	0.662													3	29					0	0	1	0	0	A	58031260	G	A	58031260	4	1	235	1	0	0	0	0	0	1	0	0	17834	1328	46	2	842	2	ZNF319	16	58031260	Nonsense_Mutation	SNP	G	TCGA-EM-A1YD-01A-11D-A14W-08		58031260	32323493	6	4145											
CYP2A6	1548	broad.mit.edu	37	chr19	41351189	41351189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtctggggggtgggggCggatagcaccttagggagga	21	6	1	0			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr19:41351189C>T	uc010ehe.1	-	5	1029	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	CYP2A6_uc002opl.4_Intron			P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	0					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GGGGTGGGGGCGGATAGCACC	0.557													7	37					0	0	1	0	0	T	41351189	C	T	41351189	3	4	235	1	0	0	0	0	1	0	0	0	4162	783	27	1		1	CYP2A6	19	41351189	Missense_Mutation	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		41351189	17777794	7	4146											
PTPRT	11122	broad.mit.edu	37	chr20	41306647	41306647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgggagagtcgactatgtGggtctctgcccacgtgcctg	15	10	1	1			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr20:41306647G>A	uc010ggj.3	-	6	1196	c.1012C>T	c.(1012-1014)Cac>Tac	p.H338Y	PTPRT_uc002xkg.3_Missense_Mutation_p.H338Y	NM_133170	NP_573400	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 1, mRNA.	338	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCGACTATGTGGGTCTCTGCC	0.567													14	115					0	0	1	0	0	A	41306647	G	A	41306647	3	1	235	1	0	0	0	0	1	0	0	0	12812	1348	47	2	3474	2	PTPRT	20	41306647	Missense_Mutation	SNP	G	TCGA-EM-A1YD-01A-11D-A14W-08		41306647	21718873	8	4147											
ASMT	438	broad.mit.edu	37	chrX	1743168	1743168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgtttcagctttctAtcgaaacacagagctgtcca	9	9	2	1			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chrX:1743168A>G	uc004cqd.3	+	3	467	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	ASMT_uc010ncy.3_Missense_Mutation_p.Y84C|ASMT_uc004cqe.3_Missense_Mutation_p.Y84C	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	84					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCAGCTTTCTATCGAAACACA	0.537													35	96					0	0	1	0	0	G	1743168	A	G	1743168	3	3	235	1	0	0	0	0	1	0	0	0	1045	449	16	3	261	3	ASMT	23	1743168	Missense_Mutation	SNP	A	TCGA-EM-A1YD-01A-11D-A14W-08		1743168	153527392	9	4148											
GRIK3	2899	broad.mit.edu	37	chr1	37346338	37346338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcggggtagaggttcacGtagaaggtgtccttgttgtc	15	6	1	2			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr1:37346338G>A	uc001caz.2	-	2	582	c.447C>T	c.(445-447)taC>taT	p.Y149Y	GRIK3_uc001cba.1_Silent_p.Y149Y	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	149					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGAGGTTCACGTAGAAGGTGT	0.602													8	82					0	0	1	0	0	A	37346338	G	A	37346338	2	1	236	1	0	0	0	0	0	0	0	1	6775	1140	40	1		1	GRIK3	1	37346338	Silent	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		37346338	211904283	1	4149											
CD1A	909	broad.mit.edu	37	chr1	158225840	158225840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgagctgcactctggAaaggtctcaggaagcttctt	13	9	3	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr1:158225840A>G	uc001frt.3	+	2	905	c.372A>G	c.(370-372)ggA>ggG	p.G124G	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	124					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGCACTCTGGAAAGGTCTCAG	0.428													4	79					0	0	1	0	0	G	158225840	A	G	158225840	2	3	236	1	0	0	0	0	0	0	0	1	2974	233	9	3		3	CD1A	1	158225840	Silent	SNP	A	TCGA-EM-A1YE-01A-11D-A14W-08	120879502	158225840	91024781	2	4150											
DNAH7	56171	broad.mit.edu	37	chr2	196913064	196913064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatggttctggactctcaTcatcctgctttacactcaaa	5	11	4	0			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr2:196913064T>C	uc002utj.4	-	3	307	c.206A>G	c.(205-207)gAt>gGt	p.D69G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	69	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGACTCTCATCATCCTGCTT	0.358													6	37					0	0	1	0	0	C	196913064	T	C	196913064	3	2	236	1	0	0	0	0	1	0	0	0	4606	1435	50	3	12116	3	DNAH7	2	196913064	Missense_Mutation	SNP	T	TCGA-EM-A1YE-01A-11D-A14W-08		196913064	46286309	3	4151											
ADAMTS3	9508	broad.mit.edu	37	chr4	73156663	73156663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacccatgcagtatttgCtgtgcacagagcggttggtg	14	9	1	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr4:73156663C>T	uc003hgk.2	-	19	2877	c.2840G>A	c.(2839-2841)aGc>aAc	p.S947N		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	947	TSP type-1 3.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTATTTGCTGTGCACAGA	0.582													3	79					0	0	1	0	0	T	73156663	C	T	73156663	3	4	236	1	0	0	0	0	1	0	0	0	267	797	28	2	789	2	ADAMTS3	4	73156663	Missense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		73156663	117997613	4	4152											
ARHGAP26	23092	broad.mit.edu	37	chr5	142150381	142150381	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgatagtccgcacttcCgagagacgctcaagtcgcac	10	15	1	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr5:142150381C>T	uc011dbj.2	+	0	90	c.55C>T	c.(55-57)Cga>Tga	p.R19*	ARHGAP26_uc003lmt.3_Nonsense_Mutation_p.R19*|ARHGAP26_uc003lmw.3_Nonsense_Mutation_p.R19*	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	19					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	p.R19L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCACTTCCGAGAGACGCT	0.647													5	23					0	0	1	0	0	T	142150381	C	T	142150381	4	4	236	1	0	0	0	0	0	1	0	0	875	644	23	1	57	1	ARHGAP26	5	142150381	Nonsense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		142150381	38764879	5	4153											
TNRC18	84629	broad.mit.edu	37	chr7	5399130	5399130	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcatgttcctcctcagaccCcttgtgtctctttcttatcc	4	15	4	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:5399130C>G	uc003soi.4	-	14	5081	c.4732G>C	c.(4732-4734)Ggg>Cgg	p.G1578R	TNRC18_uc003soj.3_5'Flank	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1578							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCTCAGACCCCTTGTGTCTC	0.542													30	139					0	0	1	0	0	G	5399130	C	G	5399130	3	3	236	1	0	0	0	0	1	0	0	0	16336	623	22	4	4238	4	TNRC18	7	5399130	Missense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		5399130	153739533	6	4154											
DGKB	1607	broad.mit.edu	37	chr7	14378197	14378198	+	Frame_Shift_Ins	INS	-	-	T													gtggtccttttgtcagacccINSttttttctctattcgtcgat							TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:14378197_14378198insT	uc003ssz.3	-	21	2254_2255	c.2067_2068insA	c.(2065-2070)aaagggfs	p.K689fs	DGKB_uc011jxt.2_Frame_Shift_Ins_p.K670fs|DGKB_uc003sta.3_Frame_Shift_Ins_p.K689fs|DGKB_uc011jxu.2_Frame_Shift_Ins_p.K688fs	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	689					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.G690V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTGTCAGACCCTTTTTTCTCTA	0.401													29	52	---	---	---	---						T	14378198	-	T	14378197	7	5	236	1	0	1	1	0	0	0	0	0	4466	681	24	0	377	0	DGKB	7	14378197	Frame_Shift_Ins	INS	-	TCGA-EM-A1YE-01A-11D-A14W-08	8979067	14378197	144760466	7	4155											
METTL2B	55798	broad.mit.edu	37	chr7	128119449	128119449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaagtgttcttcgaagaGccttgaacataaaacacaga	8	9	1	3			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:128119449G>A	uc003vnf.3	+	2	477	c.440G>A	c.(439-441)aGc>aAc	p.S147N	METTL2B_uc003vng.3_Missense_Mutation_p.S82N|METTL2B_uc011kop.2_Missense_Mutation_p.S11N	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	147							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCTTCGAAGAGCCTTGAACAT	0.418													18	89					0	0	1	0	0	A	128119449	G	A	128119449	3	1	236	1	0	0	0	0	1	0	0	0	9500	971	34	2	450	2	METTL2B	7	128119449	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08	113741252	128119449	31019214	8	4156											
OR1J2	26740	broad.mit.edu	37	chr9	125273560	125273560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctccctctctcacacCcttctcctgacccggctgtc	6	21	3	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr9:125273560C>T	uc004bmj.2	+	3	806	c.480C>T	c.(478-480)acC>acT	p.T160T	OR1J2_uc011lyv.2_Silent_p.T160T	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCTCACACCCTTCTCCTGA	0.537													8	76					0	0	1	0	0	T	125273560	C	T	125273560	2	4	236	1	0	0	0	0	0	0	0	1	10960	610	22	2		2	OR1J2	9	125273560	Silent	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		125273560	15939871	9	4157											
MSI1	4440	broad.mit.edu	37	chr12	120802533	120802533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccttgggctgtgctcgcCgagggaaggccaccttaggg	15	12	0	0			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr12:120802533C>T	uc001tye.1	-	4	357	c.293G>A	c.(292-294)cGg>cAg	p.R98Q		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	98	RRM 1.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTGCTCGCCGAGGGAAGGC	0.522													46	90					0	0	1	0	0	T	120802533	C	T	120802533	3	4	236	1	0	0	0	0	1	0	0	0	9875	652	23	1	835	1	MSI1	12	120802533	Missense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		120802533	13049362	10	4158											
ZC3H4	23211	broad.mit.edu	37	chr19	47570455	47570455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcgcccgggcgctgccGggcgttggggggccctgccg	22	14	0	0			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr19:47570455G>A	uc002pga.4	-	14	3108	c.3070C>T	c.(3070-3072)Cgg>Tgg	p.R1024W	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1024							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGCGCTGCCGGGCGTTGGGG	0.706													12	9					0	0	1	0	0	A	47570455	G	A	47570455	3	1	236	1	0	0	0	0	1	0	0	0	17567	1115	39	1	845	1	ZC3H4	19	47570455	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		47570455	11558528	11	4159											
MKL1	57591	broad.mit.edu	37	chr22	40815091	40815091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgggagacacgggggGcgtggagcccgtgctgccaa	22	9	0	1			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr22:40815091G>A	uc003ayw.1	-	11	1943	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	MKL1_uc010gyf.1_Missense_Mutation_p.P401S|MKL1_uc010gye.1_Missense_Mutation_p.P451S|MKL1_uc003ayv.1_Missense_Mutation_p.P451S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	451					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GACACGGGGGGCGTGGAGCCC	0.677			T	RBM15	acute megakaryocytic leukemia								5	3					0	0	1	0	0	A	40815091	G	A	40815091	3	1	236	1	0	0	0	0	1	0	0	0	9601	1203	42	2	1460	2	MKL1	22	40815091	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		40815091	10489475	12	4160											
PKD1L1	168507	broad.mit.edu	37	chr7	47944122	47944122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggagggggacgtgagcCgattggccacaattttcttc	14	9	1	2			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr7:47944122C>T	uc003tny.2	-	11	1818	c.1784G>A	c.(1783-1785)cGg>cAg	p.R595Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	595	PKD 2.				cell-cell adhesion	integral to membrane		p.R595W(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGACGTGAGCCGATTGGCCAC	0.537													15	39					0	0	1	0	0	T	47944122	C	T	47944122	3	4	237	1	0	0	0	0	1	0	0	0	11964	652	23	1	6949	1	PKD1L1	7	47944122	Missense_Mutation	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08		47944122	111194541	1	4161											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				9	25					0	0	1	0	0	T	140453136	A	T	140453136	3	4	237	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22I-01A-11D-A17V-08	92509014	140453136	18685527	2	4162											
LRRCC1	85444	broad.mit.edu	37	chr8	86050374	86050374	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatcttcacaactggaTgaggtacttgagaagttgga	11	5	2	2			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr8:86050374T>A	uc003ycw.3	+	15	2806	c.2598T>A	c.(2596-2598)gaT>gaA	p.D866E	LRRCC1_uc022awx.1_Missense_Mutation_p.D773E|LRRCC1_uc010maa.2_Missense_Mutation_p.D567E|LRRCC1_uc003ycy.3_Missense_Mutation_p.D846E	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	866					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CACAACTGGATGAGGTACTTG	0.318													11	12					0	0	1	0	0	A	86050374	T	A	86050374	3	1	237	1	0	0	0	0	1	0	0	0	9026	1461	51	5	2660	5	LRRCC1	8	86050374	Missense_Mutation	SNP	T	TCGA-EM-A22I-01A-11D-A17V-08		86050374	60313648	3	4163											
OPLAH	26873	broad.mit.edu	37	chr8	145113595	145113595	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcatgctgggcccacCtatgacaaaaacccagtggc	10	14	1	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr8:145113595C>T	uc003zar.3	-	6	670	c.588_splice	c.e6-1	p.T196_splice	OPLAH_uc003zat.1_Splice_Site	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	196							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTGGGCCCACCTATGACAAAA	0.657													4	21					0	0	1	0	0	T	145113595	C	T	145113595	5	4	237	1	0	0	0	0	0	0	1	0	10876	695	24	2	3369	2	OPLAH	8	145113595	Splice_Site	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08	59063221	145113595	1250427	4	4164											
RC3H2	54542	broad.mit.edu	37	chr9	125639844	125639844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggcacatgctagtcttgtAtttgctgtttggctgaggct	12	8	1	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr9:125639844A>G	uc010mwc.1	-	8	1472	c.1231T>C	c.(1231-1233)Tac>Cac	p.Y411H	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.Y411H|RC3H2_uc004bne.4_Missense_Mutation_p.Y411H|RC3H2_uc011lzf.2_Missense_Mutation_p.Y148H|RC3H2_uc011lzg.2_Missense_Mutation_p.Y411H	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	411						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.Y411*(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTAGTCTTGTATTTGCTGTTT	0.418													7	176					0	0	1	0	0	G	125639844	A	G	125639844	3	3	237	1	0	0	0	0	1	0	0	0	13167	449	16	3	2474	3	RC3H2	9	125639844	Missense_Mutation	SNP	A	TCGA-EM-A22I-01A-11D-A17V-08		125639844	15573587	5	4165											
ANAPC2	29882	broad.mit.edu	37	chr9	140074764	140074765	+	Missense_Mutation	DNP	GC	GC	AT													agcgtagaccccgaacggtgGctgctcctctgctggccgct							TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr9:140074764_140074765GC>AT	uc004clr.1	-	9	1831_1832	c.1758_1759GC>AT	c.(1756-1761)cagcca>caATca	p.P587S	ANAPC2_uc004clq.1_Missense_Mutation_p.P443S	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	587					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCGAACGGTGGCTGCTCCTCTG	0.644													4	77					0	0	1	0	0	AT	140074765	GC	AT	140074764	3	1	237	1	0	0	0	0	1	0	0	0	603	1203	42	2	725	2	ANAPC2	9	140074764	Missense_Mutation	DNP	GC	TCGA-EM-A22I-01A-11D-A17V-08	14434920	140074764	1138667	6	4166											
C10orf99	387695	broad.mit.edu	37	chr10	85944480	85944480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcaagcttgagccagaGccccgcctttgggtggtgcc	13	14	0	2			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr10:85944480G>A	uc001kcu.3	+	2	258	c.204G>A	c.(202-204)gaG>gaA	p.E68E		NM_207373	NP_997256	Q6UWK7	CJ099_HUMAN	Homo sapiens chromosome 10 open reading frame 99 (C10orf99), mRNA.	68						extracellular region		p.P67>?(1)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						TTGAGCCAGAGCCCCGCCTTT	0.577													5	60					0	0	1	0	0	A	85944480	G	A	85944480	2	1	237	1	0	0	0	0	0	0	0	1	1628	962	34	2		2	C10orf99	10	85944480	Silent	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08		85944480	49590267	7	4167											
ZFHX3	463	broad.mit.edu	37	chr16	72831798	72831798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaagtgttacacttaaaagGtttgttgtctgggctgctgg	12	6	1	0			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr16:72831798G>C	uc002fck.3	-	8	5456	c.4783C>G	c.(4783-4785)Cct>Gct	p.P1595A	ZFHX3_uc002fcl.3_Missense_Mutation_p.P681A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1595					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P1595L(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CACTTAAAAGGTTTGTTGTCT	0.488													21	48					0	0	1	0	0	C	72831798	G	C	72831798	3	2	237	1	0	0	0	0	1	0	0	0	17631	1261	44	4	6336	4	ZFHX3	16	72831798	Missense_Mutation	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08		72831798	17522955	8	4168											
CACNB1	782	broad.mit.edu	37	chr17	37333738	37333738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtactccgccagatgCtcgcaggcatcctccaattg	8	15	0	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr17:37333738C>T	uc002hrm.2	-	12	1405	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	CACNB1_uc002hrl.1_Silent_p.E171E|CACNB1_uc002hrn.3_Silent_p.E399E|CACNB1_uc002hro.3_Silent_p.E444E	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	399					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCGCCAGATGCTCGCAGGCAT	0.607													16	27					0	0	1	0	0	T	37333738	C	T	37333738	2	4	237	1	0	0	0	0	0	0	0	1	2552	796	28	2		2	CACNB1	17	37333738	Silent	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08		37333738	43861472	9	4169											
ARFGEF2	10564	broad.mit.edu	37	chr20	47621731	47621731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaaagattttctgaggcCctttgagcatattatgaaga	9	7	1	6			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr20:47621731C>T	uc002xtx.4	+	25	3709	c.3557C>T	c.(3556-3558)cCc>cTc	p.P1186L	ARFGEF2_uc010zyf.2_Missense_Mutation_p.P479L	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1186					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTCTGAGGCCCTTTGAGCAT	0.448													12	91					0	0	1	0	0	T	47621731	C	T	47621731	3	4	237	1	0	0	0	0	1	0	0	0	853	623	22	2	3659	2	ARFGEF2	20	47621731	Missense_Mutation	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08		47621731	15403789	10	4170											
RBM11	54033	broad.mit.edu	37	chr21	15599326	15599326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggctggacccagctcAtataaatggactcaccaaca	8	12	2	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr21:15599326A>G	uc002yjo.4	+	4	600	c.558A>G	c.(556-558)tcA>tcG	p.S186S	RBM11_uc002yjn.4_Silent_p.S72S|RBM11_uc002yjp.4_Silent_p.S72S	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	186							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GACCCAGCTCATATAAATGGA	0.453													7	199					0	0	1	0	0	G	15599326	A	G	15599326	2	3	237	1	0	0	0	0	0	0	0	1	13112	204	8	3		3	RBM11	21	15599326	Silent	SNP	A	TCGA-EM-A22I-01A-11D-A17V-08		15599326	32530569	11	4171											
HCFC1	3054	broad.mit.edu	37	chrX	153228845	153228845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggctaccactccagaGcctggccgtaattccaggat	9	15	0	1			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chrX:153228845G>A	uc004fjp.3	-	3	1071	c.543C>T	c.(541-543)ggC>ggT	p.G181G		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	181					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACTCCAGAGCCTGGCCGTA	0.527													24	44					0	0	1	0	0	A	153228845	G	A	153228845	2	1	237	1	0	0	0	0	0	0	0	1	6991	958	34	2		2	HCFC1	23	153228845	Silent	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08		153228845	2041715	12	4172											
PPM1J	333926	broad.mit.edu	37	chr1	113256123	113256123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggatgggtcttacctggCctcggctaggctccctaggt	15	11	1	0			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr1:113256123C>T	uc001ect.1	-	1	464	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PPM1J_uc009wgl.1_5'Flank|PPM1J_uc001ecs.1_5'UTR	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	146	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTACCTGGCCTCGGCTAGG	0.562													5	59					0	0	1	0	0	T	113256123	C	T	113256123	3	4	238	1	0	0	0	0	1	0	0	0	12342	739	26	2	1116	2	PPM1J	1	113256123	Missense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		113256123	135994498	1	4173											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			60	88					0	0	1	0	0	C	115256529	T	C	115256529	3	2	238	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08	2000406	115256529	133994092	2	4174											
MTIF2	4528	broad.mit.edu	37	chr2	55470598	55470598	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatctctttcccttttctcTtttggctttaagggtatttg	7	8	2	0			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr2:55470598T>C	uc002ryn.3	-	12	2255	c.1518A>G	c.(1516-1518)aaA>aaG	p.K506K	MTIF2_uc010yox.2_Silent_p.K175K|MTIF2_uc002ryo.3_Silent_p.K506K	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	506					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCCTTTTCTCTTTTGGCTTTA	0.313													3	89					0	0	1	0	0	C	55470598	T	C	55470598	2	2	238	1	0	0	0	0	0	0	0	1	9934	1606	56	3		3	MTIF2	2	55470598	Silent	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		55470598	187728775	3	4175											
STK25	10494	broad.mit.edu	37	chr2	242439602	242439602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggacctttgatgtctcggTggatcttgcgttcggagtgc	14	9	2	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr2:242439602T>C	uc002wbm.3	-	3	684	c.413A>G	c.(412-414)cAc>cGc	p.H138R	STK25_uc002wbl.3_5'Flank|STK25_uc002wbn.3_Missense_Mutation_p.H138R|STK25_uc002wbo.3_Missense_Mutation_p.H61R|STK25_uc010zos.2_Missense_Mutation_p.H44R|STK25_uc010zot.2_Missense_Mutation_p.H64R|STK25_uc002wbp.3_Missense_Mutation_p.H138R|STK25_uc010fzo.3_Missense_Mutation_p.H61R|STK25_uc010zou.2_Missense_Mutation_p.H44R|STK25_uc010zov.2_Missense_Mutation_p.H44R|STK25_uc010zow.2_Missense_Mutation_p.H138R	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	138	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GATGTCTCGGTGGATCTTGCG	0.582													5	57					0	0	1	0	0	C	242439602	T	C	242439602	3	2	238	1	0	0	0	0	1	0	0	0	15293	1696	59	3	899	3	STK25	2	242439602	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08	186969004	242439602	759771	4	4176											
CNTN3	5067	broad.mit.edu	37	chr3	74315640	74315640	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caaccaacttactggttattCgtggaatcctgatctgttca	7	10	2	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr3:74315640C>G	uc003dpm.1	-	20	3058	c.2978G>C	c.(2977-2979)cGa>cCa	p.R993P		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	993					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTGGTTATTCGTGGAATCCT	0.428													3	73					0	0	1	0	0	G	74315640	C	G	74315640	3	3	238	1	0	0	0	0	1	0	0	0	3642	884	31	4	116	4	CNTN3	3	74315640	Missense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		74315640	123706790	5	4177											
ADH4	127	broad.mit.edu	37	chr4	100047817	100047817	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtatgggtcaccagtgcaTccagattgaatttcttattc	10	8	2	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr4:100047817T>A	uc011ced.2	-	8	1269	c.1103A>T	c.(1102-1104)gAt>gTt	p.D368V	LOC100507053_uc003hum.2_Intron|ADH4_uc003hun.3_Missense_Mutation_p.D349V			P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	349					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CACCAGTGCATCCAGATTGAA	0.373													20	56					0	0	1	0	0	A	100047817	T	A	100047817	3	1	238	1	0	0	0	0	1	0	0	0	310	1435	50	5	104	5	ADH4	4	100047817	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		100047817	91106459	6	4178											
FBN2	2201	broad.mit.edu	37	chr5	127638774	127638774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggatgccgctcgcactcAtcaacatctataaagaaata	6	11	3	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr5:127638774A>G	uc003kuu.3	-	45	6247	c.5808T>C	c.(5806-5808)gaT>gaC	p.D1936D		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1936	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTCGCACTCATCAACATCTA	0.338													27	40					0	0	1	0	0	G	127638774	A	G	127638774	2	3	238	1	0	0	0	0	0	0	0	1	5703	214	8	3		3	FBN2	5	127638774	Silent	SNP	A	TCGA-EM-A22J-01A-11D-A17V-08		127638774	53276486	7	4179											
PCDHB5	26167	broad.mit.edu	37	chr5	140516258	140516258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacagagagagccaagcCgagtacaacatcaccatcac	9	13	2	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr5:140516258C>T	uc003liq.3	+	0	1459	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	414	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCCAAGCCGAGTACAACA	0.498													42	72					0	0	1	0	0	T	140516258	C	T	140516258	2	4	238	1	0	0	0	0	0	0	0	1	11545	639	23	1		1	PCDHB5	5	140516258	Silent	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08	12877484	140516258	40399002	8	4180											
CLDN15	24146	broad.mit.edu	37	chr7	100880845	100880845	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaagaagccaaaggtTtccacagccatcgacatggt	10	11	0	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr7:100880845T>C	uc003uyg.2	-	0	383	c.18A>G	c.(16-18)gaA>gaG	p.E6E	CLDN15_uc003uyh.2_Silent_p.E6E|CLDN15_uc003uyi.3_Silent_p.E6E|CLDN15_uc022aja.1_Silent_p.E6E	NM_014343	NP_001172009	P56746	CLD15_HUMAN	Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.	6					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCCAAAGGTTTCCACAGCCA	0.622													4	38					0	0	1	0	0	C	100880845	T	C	100880845	2	2	238	1	0	0	0	0	0	0	0	1	3476	1838	64	3		3	CLDN15	7	100880845	Silent	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		100880845	58257818	9	4181											
SUSD1	64420	broad.mit.edu	37	chr9	114886546	114886546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatctgtacctgtgcatgTtaaagtactttctctccagg	8	9	2	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr9:114886546T>C	uc010mui.3	-	5	918	c.877A>G	c.(877-879)Aca>Gca	p.T293A	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.T293A|SUSD1_uc010muj.3_Missense_Mutation_p.T293A			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	293	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTGTGCATGTTAAAGTACTT	0.507													4	147					0	0	1	0	0	C	114886546	T	C	114886546	3	2	238	1	0	0	0	0	1	0	0	0	15404	1725	60	3	1414	3	SUSD1	9	114886546	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		114886546	26326885	10	4182											
LDLRAD3	143458	broad.mit.edu	37	chr11	36248871	36248871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacccccaccactgcaacGtcacctacaacgtcaataat	3	18	2	0			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr11:36248871G>A	uc001mwk.1	+	4	728	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	LDLRAD3_uc010rey.1_Missense_Mutation_p.V182I|LDLRAD3_uc010rez.1_Missense_Mutation_p.V110I|LDLRAD3_uc010rfa.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	231						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCACTGCAACGTCACCTACAA	0.632													27	56					0	0	1	0	0	A	36248871	G	A	36248871	3	1	238	1	0	0	0	0	1	0	0	0	8707	1145	40	1	709	1	LDLRAD3	11	36248871	Missense_Mutation	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08		36248871	98757645	11	4183											
BCAT1	586	broad.mit.edu	37	chr12	24985718	24985719	+	Frame_Shift_Ins	INS	-	-	TC													ggctgtaccagagccaaacaINStctctctcactctgttcccc							TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr12:24985718_24985719insTC	uc010six.2	-	8	1105_1106	c.1018_1019insGA	c.(1018-1020)atgfs	p.M340fs	BCAT1_uc001rgc.3_Frame_Shift_Ins_p.M327fs|BCAT1_uc001rgd.4_Frame_Shift_Ins_p.M328fs|BCAT1_uc010siy.2_Frame_Shift_Ins_p.M291fs|BCAT1_uc001rge.4_Frame_Shift_Ins_p.M267fs	NM_001178093	NP_001171564	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 4, mRNA.	328					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AGAGCCAAACATCTCTCTCACT	0.431													9	7	---	---	---	---						TC	24985719	-	TC	24985718	7	5	238	1	0	1	1	0	0	0	0	0	1354	217	8	0	189	0	BCAT1	12	24985718	Frame_Shift_Ins	INS	-	TCGA-EM-A22J-01A-11D-A17V-08		24985718	108866177	12	4184											
FNDC3A	22862	broad.mit.edu	37	chr13	49772502	49772502	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatgtggcacttagaataCgaattcaagccttgaatagc	8	8	1	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr13:49772502C>T	uc001vcm.3	+	22	3084	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	FNDC3A_uc001vcn.3_Nonsense_Mutation_p.R927*|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Nonsense_Mutation_p.R871*	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	927	Fibronectin type-III 7.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACTTAGAATACGAATTCAAGC	0.368													6	64					0	0	1	0	0	T	49772502	C	T	49772502	4	4	238	1	0	0	0	0	0	1	0	0	5969	528	19	1	2876	1	FNDC3A	13	49772502	Nonsense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		49772502	65397376	13	4185											
ATP11A	23250	broad.mit.edu	37	chr13	113487317	113487317	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgcccgacgaggtggcGctggtcgaaggtgtccagag	16	12	0	1			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr13:113487317G>C	uc001vsj.4	+	13	1627	c.1539G>C	c.(1537-1539)gcG>gcC	p.A513A	ATP11A_uc001vsi.4_Silent_p.A513A|ATP11A_uc001vsm.1_Silent_p.A389A	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGAGGTGGCGCTGGTCGAAG	0.627													18	180					0	0	1	0	0	C	113487317	G	C	113487317	2	2	238	1	0	0	0	0	0	0	0	1	1119	1074	38	4		4	ATP11A	13	113487317	Silent	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08	63714815	113487317	1682561	14	4186											
IL16	3603	broad.mit.edu	37	chr15	81517814	81517814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctccaggtccctgatgcTctgtaatgctaagaccagtg	9	12	2	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr15:81517814T>C	uc010unp.2	+	1	226	c.200T>C	c.(199-201)cTc>cCc	p.L67P	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.L25P|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc021ssg.1_Missense_Mutation_p.L25P|IL16_uc002bgg.3_Missense_Mutation_p.L25P|IL16_uc021ssh.1_Missense_Mutation_p.L25P	NM_172217	NP_001165599	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	25					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCCTGATGCTCTGTAATGCT	0.498													15	25					0	0	1	0	0	C	81517814	T	C	81517814	3	2	238	1	0	0	0	0	1	0	0	0	7633	1551	54	3	76	3	IL16	15	81517814	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		81517814	21013578	15	4187											
SLC35B1	10237	broad.mit.edu	37	chr17	47780295	47780295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcacagaggccaaaaTtgtgaagaactttcgagttg	12	6	1	3	rs80203972	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr17:47780295T>C	uc002iph.1	-	7	928	c.841A>G	c.(841-843)Att>Gtt	p.I281V	SLC35B1_uc002ipj.1_Missense_Mutation_p.I157V	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	281						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GAGGCCAAAATTGTGAAGAAC	0.493													17	68					0	0	1	0	0	C	47780295	T	C	47780295	3	2	238	1	0	0	0	0	1	0	0	0	14575	1493	52	3	135	3	SLC35B1	17	47780295	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		47780295	33414915	16	4188											
LILRA1	11024	broad.mit.edu	37	chr19	55085362	55085362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatgacccccatcctcaCggtcctgatctgtctcggtg	9	17	3	2	rs145704089	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:55085362C>T	uc010ern.3	+	1	486	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRA1_uc002qgg.4_Missense_Mutation_p.T6M|LILRA1_uc002qgf.3_Missense_Mutation_p.T6M|LILRA1_uc010yfe.1_Missense_Mutation_p.T6M|LILRA1_uc010yff.1_Missense_Mutation_p.T6M|LILRA1_uc010ero.3_Missense_Mutation_p.T6M|LILRA1_uc010yfg.1_Missense_Mutation_p.T6M			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	6					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCATCCTCACGGTCCTGATC	0.602													28	83					0	0	1	0	0	T	55085362	C	T	55085362	3	4	238	1	0	0	0	0	1	0	0	0	8784	536	19	1		1	LILRA1	19	55085362	Missense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		55085362	4043621	17	4189											
NLRP4	147945	broad.mit.edu	37	chr19	56373368	56373368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttgcagaataaataacGtttccttttctggccagagt	8	7	1	2			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:56373368G>A	uc002qmd.4	+	4	2451	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	NLRP4_uc002qmf.3_Missense_Mutation_p.V602I|NLRP4_uc010etf.3_Missense_Mutation_p.V508I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	677							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AATAAATAACGTTTCCTTTTC	0.423													33	63					0	0	1	0	0	A	56373368	G	A	56373368	3	1	238	1	0	0	0	0	1	0	0	0	10479	1145	40	1	2043	1	NLRP4	19	56373368	Missense_Mutation	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08	1288006	56373368	2755615	18	4190											
DIDO1	11083	broad.mit.edu	37	chr20	61524262	61524262	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccaaatggtgctgagtcGagacaaaaagagggtcgtgt	13	6	0	3			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr20:61524262G>A	uc002ydr.2	-	12	3466	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	DIDO1_uc002yds.2_Nonsense_Mutation_p.R1052*|DIDO1_uc002ydt.2_Nonsense_Mutation_p.R1052*|DIDO1_uc002ydu.2_Nonsense_Mutation_p.R1052*	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1052					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R1052*(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGCTGAGTCGAGACAAAAAG	0.423													15	41					0	0	1	0	0	A	61524262	G	A	61524262	4	1	238	1	0	0	0	0	0	1	0	0	4522	1066	37	1	3613	1	DIDO1	20	61524262	Nonsense_Mutation	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08		61524262	1501258	19	4191											
NOTCH2	4853	broad.mit.edu	37	chr1	120461954	120461954	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagacaccttgggcaTcagctgccactgcagcatgg	12	13	1	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr1:120461954T>G	uc001eik.3	-	30	6059	c.5762A>C	c.(5761-5763)gAt>gCt	p.D1921A		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1921					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCTTGGGCATCAGCTGCCAC	0.468			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				3	83					0	0	1	0	0	G	120461954	T	G	120461954	3	3	239	1	0	0	0	0	1	0	0	0	10548	1435	50	5	1669	5	NOTCH2	1	120461954	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		120461954	128788667	1	4192											
CCDC150	284992	broad.mit.edu	37	chr2	197521549	197521549	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacatctttcggctgcaaacTgaaaaggatttgaatcctca	7	9	2	2			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr2:197521549T>A	uc002utp.1	+	2	504	c.369T>A	c.(367-369)acT>acA	p.T123T	CCDC150_uc002uto.1_Silent_p.T123T|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	123										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCTGCAAACTGAAAAGGATT	0.388													4	46					0	0	1	0	0	A	197521549	T	A	197521549	2	1	239	1	0	0	0	0	0	0	0	1	2785	1567	55	5		5	CCDC150	2	197521549	Silent	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		197521549	45677824	2	4193											
COL4A4	1286	broad.mit.edu	37	chr2	227979396	227979396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatttcctttttctcccTtttccccaggatggccctga	6	14	1	2			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr2:227979396T>C	uc021vxr.1	-	6	607	c.506A>G	c.(505-507)aAg>aGg	p.K169R	COL4A4_uc021vxs.1_Missense_Mutation_p.K169R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	169	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTTCTCCCTTTTCCCCAGG	0.299													3	55					0	0	1	0	0	C	227979396	T	C	227979396	3	2	239	1	0	0	0	0	1	0	0	0	3693	1609	56	3	4730	3	COL4A4	2	227979396	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08	30457847	227979396	15219977	3	4194											
MYRIP	25924	broad.mit.edu	37	chr3	40223732	40223732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccagtctgccttctcaAtcactggagaagaagccctg	10	13	3	2			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr3:40223732A>G	uc003cka.3	+	8	1030	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.I299V|MYRIP_uc010hhw.3_Missense_Mutation_p.I210V|MYRIP_uc011ayz.2_Missense_Mutation_p.I112V|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	299	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.I299I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGCCTTCTCAATCACTGGAGA	0.592													4	128					0	0	1	0	0	G	40223732	A	G	40223732	3	3	239	1	0	0	0	0	1	0	0	0	10100	101	4	3	925	3	MYRIP	3	40223732	Missense_Mutation	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		40223732	157798698	4	4195											
ANTXR2	118429	broad.mit.edu	37	chr4	80992749	80992749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagatacctcacaaatctcTccgcaagttgctgtacgaaa	6	11	2	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr4:80992749T>C	uc003hlz.4	-	1	975	c.212A>G	c.(211-213)gAg>gGg	p.E71G	ANTXR2_uc003hly.4_Missense_Mutation_p.E71G|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.E71G	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	71	VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CACAAATCTCTCCGCAAGTTG	0.368									Juvenile Hyaline Fibromatosis				26	26					0	0	1	0	0	C	80992749	T	C	80992749	3	2	239	1	0	0	0	0	1	0	0	0	712	1551	54	3	1360	3	ANTXR2	4	80992749	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		80992749	110161527	5	4196											
TIAM2	26230	broad.mit.edu	37	chr6	155458519	155458519	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgcgagagttggaaaTgagcaggaccaacactgaga	12	7	1	3			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr6:155458519T>A	uc003qqb.3	+	6	2676	c.1403T>A	c.(1402-1404)aTg>aAg	p.M468K	TIAM2_uc003qqe.3_Missense_Mutation_p.M468K|TIAM2_uc010kjj.3_Missense_Mutation_p.M1K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	468					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGTTGGAAATGAGCAGGACC	0.493													6	171					0	0	1	0	0	A	155458519	T	A	155458519	3	1	239	1	0	0	0	0	1	0	0	0	15888	1464	51	5	1409	5	TIAM2	6	155458519	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		155458519	15656548	6	4197											
XPNPEP1	7511	broad.mit.edu	37	chr10	111642324	111642324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcacctggatcctgtattCggcttccagacccaagtcaa	8	13	1	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr10:111642324C>T	uc001kyp.2	-	9	1027	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	XPNPEP1_uc009xxt.2_Missense_Mutation_p.E303K|XPNPEP1_uc001kyq.2_Missense_Mutation_p.E189K|XPNPEP1_uc010qrb.2_Missense_Mutation_p.E303K|XPNPEP1_uc010qra.1_Missense_Mutation_p.E27K	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	260					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ATCCTGTATTCGGCTTCCAGA	0.572													36	82					0	0	1	0	0	T	111642324	C	T	111642324	3	4	239	1	0	0	0	0	1	0	0	0	17439	893	31	1	1141	1	XPNPEP1	10	111642324	Missense_Mutation	SNP	C	TCGA-EM-A22K-01A-11D-A17V-08		111642324	23892423	7	4198											
HRAS	3265	broad.mit.edu	37	chr11	533875	533875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcgctgtactcctcctGgccggcggtatccaggatgt	13	13	0	0	rs28933406		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr11:533875G>T	uc001lpv.3	-	2	369	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			47	81					0	0	1	0	0	T	533875	G	T	533875	3	4	239	1	0	0	0	0	1	0	0	0	7348	1357	47	4	467	4	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		533875	134472641	8	4199											
AKAP11	11215	broad.mit.edu	37	chr13	42874704	42874704	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtgcattttcactaAaagaacgtgccattagtggc	11	9	1	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr13:42874704A>T	uc001uys.2	+	7	1997	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	608					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTTTCACTAAAAGAACGTGC	0.383													5	42					0	0	1	0	0	T	42874704	A	T	42874704	4	4	239	1	0	0	0	0	0	1	0	0	447	15	1	5	1844	5	AKAP11	13	42874704	Nonsense_Mutation	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		42874704	72295174	9	4200											
DLGAP5	9787	broad.mit.edu	37	chr14	55637441	55637441	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcatctggaatgtccaattCaagtttcctgtcccactcga	6	12	3	0			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr14:55637441C>G	uc001xbs.3	-	10	1583	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	DLGAP5_uc001xbt.3_Missense_Mutation_p.E456Q	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	456					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATGTCCAATTCAAGTTTCCTG	0.333													28	40					0	0	1	0	0	G	55637441	C	G	55637441	3	3	239	1	0	0	0	0	1	0	0	0	4563	835	29	4	1305	4	DLGAP5	14	55637441	Missense_Mutation	SNP	C	TCGA-EM-A22K-01A-11D-A17V-08		55637441	51712099	10	4201											
EIF2AK4	440275	broad.mit.edu	37	chr15	40308702	40308702	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccctttgctttccaGctgtgtcgactctacaagtt	8	13	1	0			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr15:40308702G>A	uc001zkm.1	+	28	3810	c.3760_splice	c.e28-1	p.L1254_splice	EIF2AK4_uc010bbj.1_Splice_Site_p.L955_splice|EIF2AK4_uc001zkn.1_Splice_Site_p.L354_splice|EIF2AK4_uc001zko.1_Intron|EIF2AK4_uc010bbk.1_Splice_Site	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1254	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTGCTTTCCAGCTGTGTCGAC	0.473													3	49					0	0	1	0	0	A	40308702	G	A	40308702	5	1	239	1	0	0	0	0	0	0	1	0	4999	985	34	2	3869	2	EIF2AK4	15	40308702	Splice_Site	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		40308702	62222690	11	4202											
IGDCC4	57722	broad.mit.edu	37	chr15	65677333	65677333	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgcagcaacagcgtctGcccagttccagcagggggca	13	14	1	0			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr15:65677333G>A	uc002aou.1	-	18	3511	c.3301C>T	c.(3301-3303)Cag>Tag	p.Q1101*	IGDCC4_uc002aot.1_Nonsense_Mutation_p.Q689*	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1101						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AACAGCGTCTGCCCAGTTCCA	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	129					0	0	1	0	0	A	65677333	G	A	65677333	4	1	239	1	0	0	0	0	0	1	0	0	7569	1328	46	2	459	2	IGDCC4	15	65677333	Nonsense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08	25368631	65677333	36854059	12	4203											
NFAT5	10725	broad.mit.edu	37	chr16	69729160	69729160	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacacttctttctcagcaAatgccagagaattctccact	4	13	3	1			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr16:69729160A>G	uc002exl.2	+	13	4872	c.4536A>G	c.(4534-4536)caA>caG	p.Q1512Q	NFAT5_uc002exj.2_Silent_p.Q1418Q|NFAT5_uc002exk.2_Silent_p.Q1418Q|NFAT5_uc002exn.2_Silent_p.Q1511Q|NFAT5_uc002exm.2_Silent_p.Q1494Q|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Silent_p.Q1418Q	NM_138713	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.	1494					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTTCTCAGCAAATGCCAGAGA	0.463													14	72					0	0	1	0	0	G	69729160	A	G	69729160	2	3	239	1	0	0	0	0	0	0	0	1	10360	11	1	3		3	NFAT5	16	69729160	Silent	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		69729160	20625593	13	4204											
TMEM143	55260	broad.mit.edu	37	chr19	48863423	48863423	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccgccttctctgccggactcGagtggaattcctgttacctc	9	15	1	0			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr19:48863423G>C	uc002pix.1	-	2	284	c.275C>G	c.(274-276)tCg>tGg	p.S92W	TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Missense_Mutation_p.S92W|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_Intron|TMEM143_uc002piy.1_Intron|TMEM143_uc010xzp.1_Missense_Mutation_p.S92W|TMEM143_uc010xzq.1_Intron	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	92						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGCCGGACTCGAGTGGAATTC	0.562													3	57					0	0	1	0	0	C	48863423	G	C	48863423	3	2	239	1	0	0	0	0	1	0	0	0	16054	1059	37	4	1128	4	TMEM143	19	48863423	Missense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		48863423	10265560	14	4205											
SCUBE1	80274	broad.mit.edu	37	chr22	43619190	43619190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctgggcccggggggAggtcttggcgcgagaaagac	20	9	1	2			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr22:43619190A>G	uc003bdt.2	-	10	1367	c.1240T>C	c.(1240-1242)Tcc>Ccc	p.S414P		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	414					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCCCGGGGGGAGGTCTTGGCG	0.647													4	108					0	0	1	0	0	G	43619190	A	G	43619190	3	3	239	1	0	0	0	0	1	0	0	0	13944	304	11	3	1774	3	SCUBE1	22	43619190	Missense_Mutation	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		43619190	7685376	15	4206											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			64	106					0	0	1	0	0	T	115256530	G	T	115256530	3	4	240	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A22L-01A-11D-A17V-08		115256530	133994091	1	4207											
HMCN1	83872	broad.mit.edu	37	chr1	186122946	186122946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctactcaacccggctgtTcaccattgatggcatcagca	8	15	3	1			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:186122946T>C	uc001grq.1	+	96	15312	c.15083T>C	c.(15082-15084)tTc>tCc	p.F5028S	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.F597S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5028	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCCGGCTGTTCACCATTGAT	0.463													17	35					0	0	1	0	0	C	186122946	T	C	186122946	3	2	240	1	0	0	0	0	1	0	0	0	7220	1783	62	3	15469	3	HMCN1	1	186122946	Missense_Mutation	SNP	T	TCGA-EM-A22L-01A-11D-A17V-08	70866416	186122946	63127675	2	4208											
PROS1	5627	broad.mit.edu	37	chr3	93624630	93624630	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaccatcctgctcttacctTtacaatctttcttatttgaa	2	12	3	1			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:93624630T>A	uc003drb.4	-	5	940	c.599A>T	c.(598-600)aAa>aTa	p.K200I	PROS1_uc010hoo.3_Missense_Mutation_p.K69I|PROS1_uc003dqz.4_Missense_Mutation_p.K69I	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	200	EGF-like 2; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GCTCTTACCTTTACAATCTTT	0.303													18	32					0	0	1	0	0	A	93624630	T	A	93624630	3	1	240	1	0	0	0	0	1	0	0	0	12558	1841	64	5	1471	5	PROS1	3	93624630	Missense_Mutation	SNP	T	TCGA-EM-A22L-01A-11D-A17V-08		93624630	104397800	3	4209											
GPR87	53836	broad.mit.edu	37	chr3	151012084	151012084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaaatgacctacacAtgaaaaagtaaattattgga	6	5	1	3			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:151012084A>G	uc003eyt.2	-	2	1311	c.950T>C	c.(949-951)aTg>aCg	p.M317T	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	317						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.F316L(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGACCTACACATGAAAAAGTA	0.358													53	58					0	0	1	0	0	G	151012084	A	G	151012084	3	3	240	1	0	0	0	0	1	0	0	0	6716	217	8	3	130	3	GPR87	3	151012084	Missense_Mutation	SNP	A	TCGA-EM-A22L-01A-11D-A17V-08	57387454	151012084	47010346	4	4210											
ARID1B	57492	broad.mit.edu	37	chr6	157527496	157527496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctgaatgtattgatgacGacgaggaagacgaggaggat	15	4	0	4			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr6:157527496G>A	uc003qqn.3	+	19	5341	c.5341G>A	c.(5341-5343)Gac>Aac	p.D1781N	ARID1B_uc003qqo.3_Missense_Mutation_p.D1741N|ARID1B_uc003qqp.3_Missense_Mutation_p.D1728N	NM_020732	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.	1728					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TATTGATGACGACGAGGAAGA	0.537													7	181					0	0	1	0	0	A	157527496	G	A	157527496	3	1	240	1	0	0	0	0	1	0	0	0	914	1058	37	1	5299	1	ARID1B	6	157527496	Missense_Mutation	SNP	G	TCGA-EM-A22L-01A-11D-A17V-08		157527496	13587571	5	4211											
STAG3	10734	broad.mit.edu	37	chr7	99796515	99796515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggtggaagagagcaaCgccagagcccaggcgcccag	16	11	0	3			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr7:99796515C>T	uc003utx.1	+	13	1557	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	STAG3_uc010lgs.1_Missense_Mutation_p.R256C|STAG3_uc011kjk.1_Missense_Mutation_p.R410C|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	468					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.R468C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGAGAGCAACGCCAGAGCCC	0.537													35	65					0	0	1	0	0	T	99796515	C	T	99796515	3	4	240	1	0	0	0	0	1	0	0	0	15243	536	19	1	1452	1	STAG3	7	99796515	Missense_Mutation	SNP	C	TCGA-EM-A22L-01A-11D-A17V-08		99796515	59342148	6	4212											
OR5T2	219464	broad.mit.edu	37	chr11	56000018	56000018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggatatcacaaaagacaCgcctaatttcattggctcca	8	10	2	1			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr11:56000018C>T	uc010rjc.2	-	0	644	c.644G>A	c.(643-645)cGt>cAt	p.R215H		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACAAAAGACACGCCTAATTTC	0.433													7	112					0	0	1	0	0	T	56000018	C	T	56000018	3	4	240	1	0	0	0	0	1	0	0	0	11182	536	19	1	434	1	OR5T2	11	56000018	Missense_Mutation	SNP	C	TCGA-EM-A22L-01A-11D-A17V-08		56000018	79006498	7	4213											
VWF	7450	broad.mit.edu	37	chr12	6105204	6105204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcgacggagagggcactGtgcttcacctcgatggattt	13	10	1	1			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr12:6105204G>T	uc001qnn.1	-	34	6277	c.6027C>A	c.(6025-6027)caC>caA	p.H2009Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2009	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGAGGGCACTGTGCTTCACCT	0.522													19	26					0	0	1	0	0	T	6105204	G	T	6105204	3	4	240	1	0	0	0	0	1	0	0	0	17243	1368	48	4	2486	4	VWF	12	6105204	Missense_Mutation	SNP	G	TCGA-EM-A22L-01A-11D-A17V-08		6105204	127746691	8	4214											
SCEL	8796	broad.mit.edu	37	chr13	78176241	78176241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gattaaagttaatcaaaggaCtgacaaaaatgagaaagggt	10	3	1	2			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr13:78176241C>G	uc001vki.3	+	15	1129	c.959C>G	c.(958-960)aCt>aGt	p.T320S	SCEL_uc010thx.2_Missense_Mutation_p.T298S|SCEL_uc001vkj.3_Missense_Mutation_p.T300S	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	320	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AATCAAAGGACTGACAAAAAT	0.393													7	29					0	0	1	0	0	G	78176241	C	G	78176241	3	3	240	1	0	0	0	0	1	0	0	0	13888	565	20	4	1017	4	SCEL	13	78176241	Missense_Mutation	SNP	C	TCGA-EM-A22L-01A-11D-A17V-08		78176241	36993637	9	4215											
PIGS	94005	broad.mit.edu	37	chr17	26882008	26882008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctagctcccaggtcattAgcccttcactcgtaggccct	9	15	3	0			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr17:26882008A>G	uc002hbo.2	-	10	1626	c.1253T>C	c.(1252-1254)cTa>cCa	p.L418P	UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Missense_Mutation_p.L410P|PIGS_uc010wap.1_Missense_Mutation_p.L357P	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	418					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCAGGTCATTAGCCCTTCACT	0.587													3	54					0	0	1	0	0	G	26882008	A	G	26882008	3	3	240	1	0	0	0	0	1	0	0	0	11898	420	15	3	422	3	PIGS	17	26882008	Missense_Mutation	SNP	A	TCGA-EM-A22L-01A-11D-A17V-08		26882008	54313202	10	4216											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	40					0	0	1	0	0	T	140453136	A	T	140453136	3	4	241	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22M-01A-11D-A17V-08		140453136	18685527	1	4217											
NUDT8	254552	broad.mit.edu	37	chr11	67395569	67395569	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagcagctgcagggcaaactCagtgatgacagctgtgaggc	14	10	1	3			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr11:67395569C>G	uc001omo.2	-	3	585	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	NUDT8_uc001omn.3_3'UTR	NM_001243750	NP_001230679	Q8WV74	NUDT8_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 8 (NUDT8), transcript variant 1, mRNA.	187						mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						AGGGCAAACTCAGTGATGACA	0.662													8	30					0	0	1	0	0	G	67395569	C	G	67395569	3	3	241	1	0	0	0	0	1	0	0	0	10745	841	29	4		4	NUDT8	11	67395569	Missense_Mutation	SNP	C	TCGA-EM-A22M-01A-11D-A17V-08		67395569	67610947	2	4218											
OR10A7	121364	broad.mit.edu	37	chr12	55614871	55614871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggttttacaaacaacccCgagatgcaagtttccctctt	6	12	1	1			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr12:55614871C>T	uc010spf.2	+	0	63	c.63C>T	c.(61-63)ccC>ccT	p.P21P		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CAAACAACCCCGAGATGCAAG	0.373													5	134					0	0	1	0	0	T	55614871	C	T	55614871	2	4	241	1	0	0	0	0	0	0	0	1	10895	639	23	1		1	OR10A7	12	55614871	Silent	SNP	C	TCGA-EM-A22M-01A-11D-A17V-08		55614871	78237024	3	4219											
WHAMM	123720	broad.mit.edu	37	chr15	83485581	83485581	+	Frame_Shift_Del	DEL	A	A	-													aattattttaaggagacagtAaaagcattagcaggtgataa							TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr15:83485581delA	uc002bje.3	+	2	1427	c.921delA	c.(919-921)gtafs	p.V307fs		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules (WHAMM), mRNA.	307						ER-Golgi intermediate compartment|Golgi apparatus|cytoplasmic vesicle membrane	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGGAGACAGTAAAAGCATTAG	0.363													2	4	---	---	---	---						-	83485581	A	-	83485581	7	5	241	1	0	1	0	1	0	0	0	0	17358	349	13	0	931	0	WHAMM	15	83485581	Frame_Shift_Del	DEL	A	TCGA-EM-A22M-01A-11D-A17V-08		83485581	19045811	4	4220											
ZNF629	23361	broad.mit.edu	37	chr16	30795747	30795747	+	Frame_Shift_Del	DEL	G	G	-													tcacctctgtgagcatcgttGgggctctgttccggaccctg							TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr16:30795747delG	uc002dzs.1	-	1	265	c.57delC	c.(55-57)cccfs	p.P19fs		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GAGCATCGTTGGGGCTCTGTT	0.687													2	4	---	---	---	---						-	30795747	G	-	30795747	7	5	241	1	0	1	0	1	0	0	0	0	18050	1335	47	0	2560	0	ZNF629	16	30795747	Frame_Shift_Del	DEL	G	TCGA-EM-A22M-01A-11D-A17V-08		30795747	59559006	5	4221											
TRIM46	80128	broad.mit.edu	37	chr1	155156425	155156425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagggagggatggccccaCagccggctgcacagtgcccc	15	15	0	0			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr1:155156425C>T	uc001fhs.1	+	9	2122	c.2039C>T	c.(2038-2040)aCa>aTa	p.T680I	TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.T554I|TRIM46_uc001fhu.1_Missense_Mutation_p.T657I|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	680	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGGCCCCACAGCCGGCTGC	0.657													14	41					0	0	1	0	0	T	155156425	C	T	155156425	3	4	242	1	0	0	0	0	1	0	0	0	16518	478	17	2	2077	2	TRIM46	1	155156425	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		155156425	94094196	1	4222											
COL3A1	1281	broad.mit.edu	37	chr2	189866147	189866147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctactggtcctattggtcctCctggcccagctggccagcct	10	16	0	0			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr2:189866147C>T	uc002uqj.1	+	32	2425	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	770	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TATTGGTCCTCCTGGCCCAGC	0.373													5	52					0	0	1	0	0	T	189866147	C	T	189866147	3	4	242	1	0	0	0	0	1	0	0	0	3688	855	30	2	2438	2	COL3A1	2	189866147	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		189866147	53333226	2	4223											
KIF2A	3796	broad.mit.edu	37	chr5	61643970	61643970	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctccagcatcctcAgccaaagtaaacaaaattgt	4	15	1	0			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr5:61643970A>T	uc003jsz.4	+	2	566	c.255A>T	c.(253-255)tcA>tcT	p.S85S	KIF2A_uc003jsx.4_Silent_p.S65S|KIF2A_uc010iwp.3_Silent_p.S85S|KIF2A_uc003jsy.4_Silent_p.S85S|KIF2A_uc010iwq.3_5'UTR	NM_001098511	NP_001091981	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 2, mRNA.	85	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAGCATCCTCAGCCAAAGTAA	0.438													7	106					0	0	1	0	0	T	61643970	A	T	61643970	2	4	242	1	0	0	0	0	0	0	0	1	8297	175	7	5		5	KIF2A	5	61643970	Silent	SNP	A	TCGA-EM-A22N-01A-11D-A17V-08		61643970	119271290	3	4224											
OR5AK2	390181	broad.mit.edu	37	chr11	56756448	56756449	+	Missense_Mutation	DNP	GC	GC	TT													cttctgggatttggtgcccaGcatgagttttggtgtatcct							TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr11:56756448_56756449GC>TT	uc010rjp.2	+	0	60_61	c.60_61GC>TT	c.(58-63)cagcat>caTTat	p.20_21QH>HY		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q20H(2)|p.A19V(1)|p.Q20fs*17(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGGTGCCCAGCATGAGTTTTG	0.411													12	77					0	0	1	0	0	TT	56756449	GC	TT	56756448	3	4	242	1	0	0	0	0	1	0	0	0	11142	962	34	4	62	4	OR5AK2	11	56756448	Missense_Mutation	DNP	GC	TCGA-EM-A22N-01A-11D-A17V-08		56756448	78250068	4	4225											
FAM60A	58516	broad.mit.edu	37	chr12	31440669	31440669	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgactggttactgtaacaAggagattgagctggggaggc	15	6	1	3			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:31440669A>C	uc001rkc.3	-	3	722	c.480T>G	c.(478-480)ccT>ccG	p.P160P	FAM60A_uc010sjz.2_Silent_p.P135P|FAM60A_uc001rkd.3_Silent_p.P135P|FAM60A_uc010ska.2_Silent_p.P135P|FAM60A_uc001rke.3_Silent_p.P135P|FAM60A_uc010skb.2_Non-coding_Transcript	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	135										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TACTGTAACAAGGAGATTGAG	0.378													6	37					0	0	1	0	0	C	31440669	A	C	31440669	2	2	242	1	0	0	0	0	0	0	0	1	5595	59	3	5		5	FAM60A	12	31440669	Silent	SNP	A	TCGA-EM-A22N-01A-11D-A17V-08		31440669	102411226	5	4226											
SH2B3	10019	broad.mit.edu	37	chr12	111885971	111885971	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttccacctggtgccttcGcccgaagaactggccaacag	9	15	1	1	rs143956445		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:111885971G>T	uc001tsf.3	+	6	1623	c.1596G>T	c.(1594-1596)tcG>tcT	p.S532S	SH2B3_uc001tse.3_Silent_p.S531S|SH2B3_uc010syf.2_Silent_p.S531S|SH2B3_uc010syg.2_Silent_p.S329S	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	531					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						TGGTGCCTTCGCCCGAAGAAC	0.637													4	70					0	0	1	0	0	T	111885971	G	T	111885971	2	4	242	1	0	0	0	0	0	0	0	1	14229	1074	38	4		4	SH2B3	12	111885971	Silent	SNP	G	TCGA-EM-A22N-01A-11D-A17V-08	80445302	111885971	21965924	6	4227											
SLC38A7	55238	broad.mit.edu	37	chr16	58701385	58701385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccgtagctgaccagcacCcaccagctgtagaacagagg	10	14	0	3			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr16:58701385C>A	uc002eod.1	-	11	1686	c.1293G>T	c.(1291-1293)tgG>tgT	p.W431C	SLC38A7_uc002eoc.1_Missense_Mutation_p.G297V|SLC38A7_uc010vil.1_Missense_Mutation_p.W342C	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	431					amino acid transport|sodium ion transport	integral to membrane		p.W431*(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGACCAGCACCCACCAGCTGT	0.498													10	39					0	0	1	0	0	A	58701385	C	A	58701385	3	1	242	1	0	0	0	0	1	0	0	0	14609	624	22	4	99	4	SLC38A7	16	58701385	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		58701385	31653368	7	4228											
CACNA1A	773	broad.mit.edu	37	chr19	13476148	13476148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtcccctcttcaaagCaggtggtatgaaattttccc	7	12	2	1			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr19:13476148C>T	uc010xne.2	-	4	1003	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	CACNA1A_uc010xnd.2_Missense_Mutation_p.C256Y|CACNA1A_uc021ups.1_Missense_Mutation_p.C256Y|CACNA1A_uc002mwy.3_Missense_Mutation_p.C256Y|CACNA1A_uc010dze.2_Missense_Mutation_p.C256Y|CACNA1A_uc021upt.1_Missense_Mutation_p.C256Y	NM_023035	NP_075461	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 2, mRNA.	256			C -> R (in EA2; dbSNP:rs121908231).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTCTTCAAAGCAGGTGGTATG	0.453													19	75					0	0	1	0	0	T	13476148	C	T	13476148	3	4	242	1	0	0	0	0	1	0	0	0	2538	710	25	2	7039	2	CACNA1A	19	13476148	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		13476148	45652835	8	4229											
TCEA3	6920	broad.mit.edu	37	chr1	23743819	23743819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgaacactcaagcccTttttccttcttctttgcctt	4	14	4	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:23743819T>C	uc021oig.1	-	3	438	c.303A>G	c.(301-303)aaA>aaG	p.K101K	TCEA3_uc021oih.1_Silent_p.K80K|TCEA3_uc010ody.1_Silent_p.K64K	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	101					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACTCAAGccctttttccttct	0.473													3	123					0	0	1	0	0	C	23743819	T	C	23743819	2	2	243	1	0	0	0	0	0	0	0	1	15666	1606	56	3		3	TCEA3	1	23743819	Silent	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		23743819	225506802	1	4230											
CNKSR1	10256	broad.mit.edu	37	chr1	26507021	26507021	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgctccagctctgccccCaaagcctcgaggctctggct	9	18	2	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:26507021C>G	uc001bln.4	+	1	188	c.130C>G	c.(130-132)Caa>Gaa	p.Q44E	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.Q44E|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	44	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTGCCCCCAAAGCCTCGA	0.622													7	93					0	0	1	0	0	G	26507021	C	G	26507021	3	3	243	1	0	0	0	0	1	0	0	0	3606	595	21	4	136	4	CNKSR1	1	26507021	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	2763202	26507021	222743600	2	4231											
ATXN7L2	127002	broad.mit.edu	37	chr1	110033986	110033986	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccctctggctgtaggggcCtctcggccaaaactaaaaca	9	13	2	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:110033986C>G	uc001dxr.3	+	9	1816	c.1801C>G	c.(1801-1803)Ctc>Gtc	p.L601V	ATXN7L2_uc001dxs.3_Missense_Mutation_p.L228V|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	601										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGTAGGGGCCTCTCGGCCAA	0.592													37	54					0	0	1	0	0	G	110033986	C	G	110033986	3	3	243	1	0	0	0	0	1	0	0	0	1217	681	24	4	1839	4	ATXN7L2	1	110033986	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	83526965	110033986	139216635	3	4232											
TTC27	55622	broad.mit.edu	37	chr2	33036256	33036256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccacgtatatggaaatGggcagagtgaaaagcctgat	12	7	0	3			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:33036256G>A	uc002rom.3	+	16	2437	c.2164G>A	c.(2164-2166)Ggg>Agg	p.G722R	TTC27_uc010ymx.2_Missense_Mutation_p.G672R	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	722							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATATGGAAATGGGCAGAGTGA	0.433													13	16					0	0	1	0	0	A	33036256	G	A	33036256	3	1	243	1	0	0	0	0	1	0	0	0	16692	1348	47	2	2230	2	TTC27	2	33036256	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		33036256	210163117	4	4233											
PKP4	8502	broad.mit.edu	37	chr2	159519930	159519930	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggctctgcagggtctctCcagaacctctctgctggcaa	11	13	3	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:159519930C>T	uc002tzv.3	+	14	2810	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L	PKP4_uc002tzu.3_Silent_p.L850L|PKP4_uc002tzw.3_Silent_p.L850L|PKP4_uc002tzx.3_Silent_p.L507L|PKP4_uc002uaa.3_Silent_p.L702L|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.L31L	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	850					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGGGTCTCTCCAGAACCTCT	0.453										HNSCC(62;0.18)			19	29					0	0	1	0	0	T	159519930	C	T	159519930	2	4	243	1	0	0	0	0	0	0	0	1	11987	842	30	2		2	PKP4	2	159519930	Silent	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	126483674	159519930	83679443	5	4234											
CDK15	65061	broad.mit.edu	37	chr2	202744823	202744823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccagagaccgcgtctcCgcccaggaagcacttgttca	9	15	2	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:202744823C>T	uc002uyt.2	+	11	1180	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	CDK15_uc002uys.2_Silent_p.S326S|CDK15_uc010ftn.1_Silent_p.S326S|CDK15_uc002uyu.1_Non-coding_Transcript	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	Homo sapiens cyclin-dependent kinase 15 (CDK15), mRNA.	377	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ACCGCGTCTCCGCCCAGGAAG	0.552													7	65					0	0	1	0	0	T	202744823	C	T	202744823	2	4	243	1	0	0	0	0	0	0	0	1	3131	639	23	1		1	CDK15	2	202744823	Silent	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	43224893	202744823	40454550	6	4235											
CCDC39	339829	broad.mit.edu	37	chr3	180381672	180381672	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacctgtgtaattgagagctCttgcttaacatttttgaagt	8	6	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr3:180381672C>G	uc010hxe.3	-	1	308	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	65					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGAGAGCTCTTGCTTAACA	0.353													15	44					0	0	1	0	0	G	180381672	C	G	180381672	3	3	243	1	0	0	0	0	1	0	0	0	2811	922	32	4	2708	4	CCDC39	3	180381672	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		180381672	17640758	7	4236											
SDAD1	55153	broad.mit.edu	37	chr4	76886950	76886950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatgagatgcttgtgcAgcaaacagaaggatcttggt	14	5	1	3			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:76886950A>G	uc003hje.4	-	12	1190	c.1071T>C	c.(1069-1071)gcT>gcC	p.A357A	SDAD1_uc003hjf.4_Silent_p.A260A|SDAD1_uc011cbr.2_Silent_p.A320A	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	357					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGCTTGTGCAGCAAACAGAA	0.473													29	79					0	0	1	0	0	G	76886950	A	G	76886950	2	3	243	1	0	0	0	0	0	0	0	1	13950	175	7	3		3	SDAD1	4	76886950	Silent	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08		76886950	114267326	8	4237											
HNRPDL	9987	broad.mit.edu	37	chr4	83350530	83350530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctggcgcgcagtccggGtcgcggcagcagcggcggcg	21	13	0	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:83350530G>A	uc003hmr.3	-	0	849	c.314C>T	c.(313-315)aCc>aTc	p.T105I	ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.T105I	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	105					RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				CGCAGTCCGGGTCGCGGCAGC	0.622													19	59					0	0	1	0	0	A	83350530	G	A	83350530	3	1	243	1	0	0	0	0	1	0	0	0	7276	1261	44	2	976	2	HNRPDL	4	83350530	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	6463580	83350530	107803746	9	4238											
DDX60L	91351	broad.mit.edu	37	chr4	169374416	169374416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccacctcctgcagggaTaggcaattactgtgcacctg	9	13	1	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:169374416T>C	uc021xuh.1	-	6	965	c.855A>G	c.(853-855)ctA>ctG	p.L285L	DDX60L_uc003irq.4_Silent_p.L285L|DDX60L_uc003irr.1_Silent_p.L285L|DDX60L_uc003irs.1_Silent_p.L12L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	285							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCTGCAGGGATAGGCAATTAC	0.463													11	16					0	0	1	0	0	C	169374416	T	C	169374416	2	2	243	1	0	0	0	0	0	0	0	1	4379	1393	49	3		3	DDX60L	4	169374416	Silent	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08	86023886	169374416	21779860	10	4239											
CSNK1G3	1456	broad.mit.edu	37	chr5	122881412	122881412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatagaatggcacgacctAgtggtcgatcgggacacaac	12	9	0	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr5:122881412A>G	uc003ktl.3	+	1	774	c.55A>G	c.(55-57)Agt>Ggt	p.S19G	CSNK1G3_uc003ktn.3_Missense_Mutation_p.S19G|CSNK1G3_uc003ktm.3_Missense_Mutation_p.S19G|CSNK1G3_uc003kto.3_Missense_Mutation_p.S19G|CSNK1G3_uc011cwr.2_Intron|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Missense_Mutation_p.S19G	NM_001044723	NP_001038188	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 4, mRNA.	19					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GGCACGACCTAGTGGTCGATC	0.403													3	26					0	0	1	0	0	G	122881412	A	G	122881412	3	3	243	1	0	0	0	0	1	0	0	0	3956	420	15	3	57	3	CSNK1G3	5	122881412	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08		122881412	58033848	11	4240											
PRICKLE4	29964	broad.mit.edu	37	chr6	41754716	41754716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagactattcgtgatcccaAggacacccctttctccacct	7	15	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr6:41754716A>G	uc011duf.1	+	7	1252	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_Non-coding_Transcript|TOMM6_uc011dug.1_5'UTR	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	295						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGTGATCCCAAGGACACCCCT	0.607											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	165					0	0	1	0	0	G	41754716	A	G	41754716	3	3	243	1	0	0	0	0	1	0	0	0	12489	72	3	3	1026	3	PRICKLE4	6	41754716	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08		41754716	129360351	12	4241											
MUC17	140453	broad.mit.edu	37	chr7	100679804	100679804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagaacaacaccggtgGccagctctgcaatcagcacc	9	15	3	1	rs71525815		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:100679804G>A	uc003uxp.1	+	2	5160	c.5107G>A	c.(5107-5109)Gcc>Acc	p.A1703T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1703	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1703A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACACCGGTGGCCAGCTCTGC	0.478													23	289					0	0	1	0	0	A	100679804	G	A	100679804	3	1	243	1	0	0	0	0	1	0	0	0	9974	1203	42	2	5117	2	MUC17	7	100679804	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		100679804	58458859	13	4242											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	23					0	0	1	0	0	T	140453136	A	T	140453136	3	4	243	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	39773332	140453136	18685527	14	4243											
KCNH2	3757	broad.mit.edu	37	chr7	150648922	150648922	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttcagcagcccgatcAgctgggggacagggaagggg	17	10	3	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:150648922A>G	uc003wic.3	-	7	1959	c.1558_splice	c.e7-1	p.L520_splice	KCNH2_uc003wib.3_Splice_Site_p.L180_splice|KCNH2_uc011kux.2_Splice_Site_p.L424_splice|KCNH2_uc003wid.3_Splice_Site_p.L180_splice|KCNH2_uc003wie.3_Splice_Site_p.L520_splice	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	520					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGCCCGATCAGCTGGGGGAC	0.667													3	37					0	0	1	0	0	G	150648922	A	G	150648922	5	3	243	1	0	0	0	0	0	0	1	0	8032	202	7	3	2225	3	KCNH2	7	150648922	Splice_Site	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	10195786	150648922	8489741	15	4244											
PABPC1	26986	broad.mit.edu	37	chr8	101719214	101719214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggatagcaccgggcaTattttggaatgctgcatttt	13	7	0	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr8:101719214T>C	uc003yjs.1	-	9	1852	c.1348A>G	c.(1348-1350)Atg>Gtg	p.M450V	PABPC1_uc011lhc.1_Missense_Mutation_p.M418V|PABPC1_uc011lhd.1_Missense_Mutation_p.M405V|PABPC1_uc003yjt.1_Missense_Mutation_p.M447V|PABPC1_uc003yju.2_Intron	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	450					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCGGGCATATTTTGGAAT	0.438													3	48					0	0	1	0	0	C	101719214	T	C	101719214	3	2	243	1	0	0	0	0	1	0	0	0	11363	1406	49	3	582	3	PABPC1	8	101719214	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		101719214	44644808	16	4245											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107510105	107510105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagcgccctgactcgggCgctggcctcacggacgctgg	15	15	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr9:107510105C>T	uc004bch.1	+	0	137	c.32C>T	c.(31-33)gCg>gTg	p.A11V	NIPSNAP3B_uc011lvt.2_Missense_Mutation_p.A11V|NIPSNAP3B_uc011lvu.1_Missense_Mutation_p.A11V	NM_015469	NP_056284	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.	11										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						CTGACTCGGGCGCTGGCCTCA	0.682													6	15					0	0	1	0	0	T	107510105	C	T	107510105	3	4	243	1	0	0	0	0	1	0	0	0	10431	768	27	1		1	NIPSNAP3B	9	107510105	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		107510105	33703326	17	4246											
FZD8	8325	broad.mit.edu	37	chr10	35929590	35929590	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcagcgcgcagttagcgatCtggcctgtcttgacgcggtt	15	11	2	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:35929590C>A	uc001iyz.1	-	0	773	c.768G>T	c.(766-768)caG>caT	p.Q256H		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	256					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.G255G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGTTAGCGATCTGGCCTGTCT	0.682													26	23					0	0	1	0	0	A	35929590	C	A	35929590	3	1	243	1	0	0	0	0	1	0	0	0	6136	912	32	4	1320	4	FZD8	10	35929590	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		35929590	99605157	18	4247											
CDH23	64072	broad.mit.edu	37	chr10	73537998	73537998	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagatcagccacggccgctAcaccctgatcgtcactgcca	9	17	2	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:73537998A>G	uc001jrx.4	+	37	5501	c.5111A>G	c.(5110-5112)tAc>tGc	p.Y1704C		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1707	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACGGCCGCTACACCCTGATC	0.607													5	60					0	0	1	0	0	G	73537998	A	G	73537998	3	3	243	1	0	0	0	0	1	0	0	0	3108	391	14	3	5619	3	CDH23	10	73537998	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	37608408	73537998	61996749	19	4248											
CARS	833	broad.mit.edu	37	chr11	3023813	3023813	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgcctcctctttcttcttCctcttctcctcttcaacctg	3	19	7	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:3023813C>T	uc001lxf.3	-	20	2319	c.2235G>A	c.(2233-2235)agG>agA	p.R745R	CARS_uc009ydu.3_Intron|CARS_uc010qxo.2_Silent_p.R745R|CARS_uc001lxe.3_Silent_p.R652R|CARS_uc001lxg.3_Silent_p.R662R|CARS_uc001lxh.3_Silent_p.R662R|CARS_uc010qxp.2_Silent_p.R675R	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	662					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTTCTTCTTCCTCTTCTCCT	0.557			T	ALK	ALCL								46	235					0	0	1	0	0	T	3023813	C	T	3023813	2	4	243	1	0	0	0	0	0	0	0	1	2657	854	30	2		2	CARS	11	3023813	Silent	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		3023813	131982703	20	4249											
BTBD10	84280	broad.mit.edu	37	chr11	13441034	13441034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattgtatttggctgtgcaGtaaaaatggatgggtctaca	11	5	1	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:13441034G>A	uc010rcl.2	-	2	852	c.581C>T	c.(580-582)aCt>aTt	p.T194I	BTBD10_uc001mkz.3_Missense_Mutation_p.T186I|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Missense_Mutation_p.T138I|BTBD10_uc010rcn.2_Missense_Mutation_p.T155I|BTBD10_uc009ygo.3_Missense_Mutation_p.T138I	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	186	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGCTGTGCAGTAAAAATGGA	0.333													3	55					0	0	1	0	0	A	13441034	G	A	13441034	3	1	243	1	0	0	0	0	1	0	0	0	1538	1029	36	2	894	2	BTBD10	11	13441034	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	10417221	13441034	121565482	21	4250											
ATM	472	broad.mit.edu	37	chr11	108190727	108190727	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgaatcattgtacaatgctCtacaatctctaagagacaga	6	8	3	3			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:108190727C>G	uc001pkb.1	+	43	6779	c.6394C>G	c.(6394-6396)Cta>Gta	p.L2132V	ATM_uc009yxr.1_Missense_Mutation_p.L2132V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.L784V|ATM_uc001pkg.1_Missense_Mutation_p.L489V	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2132	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTACAATGCTCTACAATCTCT	0.299			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			29	50					0	0	1	0	0	G	108190727	C	G	108190727	3	3	243	1	0	0	0	0	1	0	0	0	1109	912	32	4	6564	4	ATM	11	108190727	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	94749693	108190727	26815789	22	4251											
CACNA2D4	93589	broad.mit.edu	37	chr12	1949958	1949958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccacagctgtgcttgccGtcaccaccatgggttcaccc	9	18	2	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:1949958G>A	uc021qsx.1	-	25	2729	c.2498C>T	c.(2497-2499)aCg>aTg	p.T833M	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.T697M|CACNA2D4_uc009zdr.2_Non-coding_Transcript	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	833						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGTGCTTGCCGTCACCACCAT	0.597													37	37					0	0	1	0	0	A	1949958	G	A	1949958	3	1	243	1	0	0	0	0	1	0	0	0	2551	1145	40	1	967	1	CACNA2D4	12	1949958	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		1949958	131901937	23	4252											
NAP1L1	4673	broad.mit.edu	37	chr12	76444373	76444373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgatcttgggattatacGctcacgtaaaaagtgaccaa	8	9	2	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:76444373G>A	uc001sxw.2	-	11	1409	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	NAP1L1_uc001sxz.2_Missense_Mutation_p.R264C|NAP1L1_uc010stz.1_Missense_Mutation_p.R150C|NAP1L1_uc001sxx.2_Missense_Mutation_p.R333C|NAP1L1_uc010sty.1_Missense_Mutation_p.R290C|NAP1L1_uc010sua.1_Missense_Mutation_p.R333C|NAP1L1_uc001syb.3_Missense_Mutation_p.R333C	NM_139207	NP_631946	P55209	NP1L1_HUMAN	Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.	333					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGGATTATACGCTCACGTAAA	0.343													15	20					0	0	1	0	0	A	76444373	G	A	76444373	3	1	243	1	0	0	0	0	1	0	0	0	10156	1087	38	1	194	1	NAP1L1	12	76444373	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	74494415	76444373	57407522	24	4253											
ATXN2	6311	broad.mit.edu	37	chr12	111893961	111893961	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgttggaggcaggtgTcatggagggtggagttggcg	21	5	1	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:111893961T>A	uc001tsj.3	-	22	3778	c.3616A>T	c.(3616-3618)Aca>Tca	p.T1206S	ATXN2_uc001tsh.3_Missense_Mutation_p.T941S|ATXN2_uc001tsi.3_Missense_Mutation_p.T899S|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Missense_Mutation_p.T207S	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1206					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GAGGCAGGTGTCATGGAGGGT	0.587													98	126					0	0	1	0	0	A	111893961	T	A	111893961	3	1	243	1	0	0	0	0	1	0	0	0	1211	1667	58	5	337	5	ATXN2	12	111893961	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08	35449588	111893961	21957934	25	4254											
OR11H12	440153	broad.mit.edu	37	chr14	19378084	19378084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaactggtcatactgtgctGggtttgtggatttctgtggt	13	6	2	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr14:19378084G>T	uc010tkp.2	+	0	491	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGTGCTGGGTTTGTGGA	0.488													19	123					0	0	1	0	0	T	19378084	G	T	19378084	3	4	243	1	0	0	0	0	1	0	0	0	10927	1357	47	4	493	4	OR11H12	14	19378084	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		19378084	87971456	26	4255											
MAP1A	4130	broad.mit.edu	37	chr15	43815344	43815344	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacaggactaggagataagcCattccctctagacactgcag	9	12	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:43815344C>G	uc001zrt.3	+	3	2140	c.1673C>G	c.(1672-1674)cCa>cGa	p.P558R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	558						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATAAGCCATTCCCTCTA	0.537													53	48					0	0	1	0	0	G	43815344	C	G	43815344	3	3	243	1	0	0	0	0	1	0	0	0	9227	594	21	4	1675	4	MAP1A	15	43815344	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		43815344	58716048	27	4256											
CCPG1	9236	broad.mit.edu	37	chr15	55664157	55664157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaacggtcttcttcctAgcacggcgtcgtctaaaggc	11	12	3	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:55664157A>G	uc002acy.3	-	12	1957	c.540T>C	c.(538-540)gcT>gcC	p.A180A	CCPG1_uc002acu.2_Silent_p.A36A|CCPG1_uc002acz.2_Silent_p.A180A|CCPG1_uc002acw.2_5'UTR|CCPG1_uc002acx.3_Silent_p.A180A|CCPG1_uc010bfk.2_Silent_p.A180A|CCPG1_uc002acv.2_Silent_p.A180A	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	180	Interaction with MCF2L and SRC (By similarity).|Poly-Arg.				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCTTCTTCCTAGCACGGCGTC	0.433													3	46					0	0	1	0	0	G	55664157	A	G	55664157	2	3	243	1	0	0	0	0	0	0	0	1	2938	407	15	3		3	CCPG1	15	55664157	Silent	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	11848813	55664157	46867235	28	4257											
DNAH3	55567	broad.mit.edu	37	chr16	20975172	20975172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaatgatgtacttgatgCgcagattcagttcctcgctc	10	10	2	3			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:20975172C>T	uc010vbe.2	-	52	10034	c.10034G>A	c.(10033-10035)cGc>cAc	p.R3345H	DNAH3_uc010vbd.2_Missense_Mutation_p.R780H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3345					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3345C(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTACTTGATGCGCAGATTCAG	0.488													52	86					0	0	1	0	0	T	20975172	C	T	20975172	3	4	243	1	0	0	0	0	1	0	0	0	4603	768	27	1	2355	1	DNAH3	16	20975172	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		20975172	69379581	29	4258											
LCMT1	51451	broad.mit.edu	37	chr16	25182127	25182127	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgagctgaagtgagcagGtatggggttggtgagcgtca	17	7	1	3			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:25182127G>A	uc002dnx.1	+	9	1042	c.884_splice	c.e9+1	p.R295_splice	LCMT1_uc002dny.1_Splice_Site_p.R240_splice	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	295							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AAGTGAGCAGGTATGGGGTTG	0.473													32	54					0	0	1	0	0	A	25182127	G	A	25182127	5	1	243	1	0	0	0	0	0	0	1	0	8678	1275	44	2	919	2	LCMT1	16	25182127	Splice_Site	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	4206955	25182127	65172626	30	4259											
ZNF532	55205	broad.mit.edu	37	chr18	56587101	56587101	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaccttgccaaccttAaccttttgcctcagggtgcc	8	15	1	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:56587101A>T	uc002lho.3	+	3	2129	c.1582A>T	c.(1582-1584)Aac>Tac	p.N528Y	ZNF532_uc002lhp.3_Missense_Mutation_p.N526Y|ZNF532_uc010xeg.2_Missense_Mutation_p.N528Y|ZNF532_uc002lhr.3_Missense_Mutation_p.N526Y|ZNF532_uc002lhs.3_Missense_Mutation_p.N526Y	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGCCAACCTTAACCTTTTGCC	0.542													4	45					0	0	1	0	0	T	56587101	A	T	56587101	3	4	243	1	0	0	0	0	1	0	0	0	17969	362	13	5	1584	5	ZNF532	18	56587101	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08		56587101	21490147	31	4260											
CDH19	28513	broad.mit.edu	37	chr18	64197108	64197108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctgcattttcacaaaCataagtctcatagtattgag	7	8	2	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:64197108C>T	uc002lkc.1	-	8	1570	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.V478I	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	478	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTTCACAAACATAAGTCTCA	0.328													27	27					0	0	1	0	0	T	64197108	C	T	64197108	3	4	243	1	0	0	0	0	1	0	0	0	3104	478	17	2	902	2	CDH19	18	64197108	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	7610007	64197108	13880140	32	4261											
C19orf35	374872	broad.mit.edu	37	chr19	2276472	2276472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgggtggggcacgtccGccccgggcttgggcacctgc	16	17	0	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:2276472G>A	uc002lvn.2	-	3	729	c.629C>T	c.(628-630)gCg>gTg	p.A210V	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	210								p.A210E(2)		large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCACGTCCGCCCCGGGCTT	0.706													4	22					0	0	1	0	0	A	2276472	G	A	2276472	3	1	243	1	0	0	0	0	1	0	0	0	1920	1087	38	1	796	1	C19orf35	19	2276472	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		2276472	56852511	33	4262											
CYP4F11	57834	broad.mit.edu	37	chr19	16038119	16038119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgacggtggcggctccacTtgtcaccaccactcagcagg	11	16	2	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:16038119T>C	uc002nbu.2	-	4	464	c.428A>G	c.(427-429)aAg>aGg	p.K143R	CYP4F11_uc010eab.1_Missense_Mutation_p.K143R|CYP4F11_uc002nbt.2_Missense_Mutation_p.K143R	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	143					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCGGCTCCACTTGTCACCACC	0.537													69	73					0	0	1	0	0	C	16038119	T	C	16038119	3	2	243	1	0	0	0	0	1	0	0	0	4186	1609	56	3	1182	3	CYP4F11	19	16038119	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08	13761647	16038119	43090864	34	4263											
U2AF2	11338	broad.mit.edu	37	chr19	56166505	56166505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagttcgagcggcagctcaAcgagaataaacaaggtgagg	14	8	1	2			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56166505A>G	uc002qlu.3	+	0	1090	c.35A>G	c.(34-36)aAc>aGc	p.N12S	U2AF2_uc002qlt.3_Missense_Mutation_p.N12S	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	12					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGGCAGCTCAACGAGAATAAA	0.682													8	34					0	0	1	0	0	G	56166505	A	G	56166505	3	3	243	1	0	0	0	0	1	0	0	0	16820	43	2	3	37	3	U2AF2	19	56166505	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	40128386	56166505	2962478	35	4264											
NLRP8	126205	broad.mit.edu	37	chr19	56467090	56467090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctatctctctcacatgGgacttttcttattcggtttt	6	9	3	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56467090G>A	uc002qmh.3	+	2	1737	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	NLRP8_uc010etg.3_Missense_Mutation_p.G556R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	556						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTCACATGGGACTTTTCTT	0.463													31	37					0	0	1	0	0	A	56467090	G	A	56467090	3	1	243	1	0	0	0	0	1	0	0	0	10483	1233	43	2	1676	2	NLRP8	19	56467090	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	300585	56467090	2661893	36	4265											
SULF2	55959	broad.mit.edu	37	chr20	46290580	46290580	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagctcctcagctccaTgagctgtacgtgtagctggt	11	12	1	1			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr20:46290580T>A	uc002xto.3	-	17	2761	c.2431A>T	c.(2431-2433)Atg>Ttg	p.M811L	SULF2_uc002xtr.3_Missense_Mutation_p.M811L|SULF2_uc002xtq.3_Missense_Mutation_p.M811L|SULF2_uc010zyd.2_Missense_Mutation_p.M90L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	811					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTCAGCTCCATGAGCTGTACG	0.532													51	59					0	0	1	0	0	A	46290580	T	A	46290580	3	1	243	1	0	0	0	0	1	0	0	0	15370	1464	51	5	197	5	SULF2	20	46290580	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		46290580	16734940	37	4266											
THAP7	80764	broad.mit.edu	37	chr22	21356155	21356155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcggttgcgcgtctcgcGcgtgtcccgtgtgcagcagc	16	15	1	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:21356155G>A	uc002ztr.1	-	1	76	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	THAP7_uc002zts.1_Missense_Mutation_p.R16C|DQ574263_uc021wlz.1_5'Flank|THAP7-AS1_uc002ztt.1_5'Flank|THAP7-AS1_uc002ztv.3_5'Flank	NM_001008695	NP_085050	Q9BT49	THAP7_HUMAN	Homo sapiens THAP domain containing 7 (THAP7), transcript variant 2, mRNA.	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGCGTCTCGCGCGTGTCCCGT	0.697													4	2					0	0	1	0	0	A	21356155	G	A	21356155	3	1	243	1	0	0	0	0	1	0	0	0	15846	1087	38	1	899	1	THAP7	22	21356155	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		21356155	29948411	38	4267											
ZNRF3	84133	broad.mit.edu	37	chr22	29445437	29445437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagctacccacccctccAcctggaccacagcctggccg	8	22	0	0			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:29445437A>G	uc003aeg.3	+	7	1268	c.1268A>G	c.(1267-1269)cAc>cGc	p.H423R	ZNRF3_uc021wnq.1_Missense_Mutation_p.H323R	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	423						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCACCCCTCCACCTGGACCAC	0.697													20	37					0	0	1	0	0	G	29445437	A	G	29445437	3	3	243	1	0	0	0	0	1	0	0	0	18210	159	6	3	994	3	ZNRF3	22	29445437	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	8089282	29445437	21859129	39	4268											
USP48	84196	broad.mit.edu	37	chr1	22033083	22033083	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccccttctctttctaaaatCtgaaagagaatgaagcaatc	5	10	3	3			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:22033083C>G	uc010odq.2	-	17	2363	c.2125_splice	c.e17-1	p.I709_splice	USP48_uc001bfa.3_Splice_Site_p.I235_splice|USP48_uc001bfb.3_Splice_Site_p.I697_splice|USP48_uc009vqc.3_Splice_Site_p.I631_splice|USP48_uc001bfc.3_Splice_Site_p.I697_splice|USP48_uc001bfd.1_5'Flank	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	697					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTCTAAAATCTGAAAGAGAA	0.438													31	76					0	0	1	0	0	G	22033083	C	G	22033083	5	3	244	1	0	0	0	0	0	0	1	0	17076	927	32	4	1063	4	USP48	1	22033083	Splice_Site	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		22033083	227217538	1	4269											
TIE1	7075	broad.mit.edu	37	chr1	43770796	43770796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgggcggtgctggggcGcggcgcacgcgcgtcatcta	19	12	2	0			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:43770796G>A	uc001ciu.3	+	1	510	c.333G>A	c.(331-333)gcG>gcA	p.A111A	TIE1_uc010okd.2_Silent_p.A111A|TIE1_uc010oke.2_Silent_p.A66A|TIE1_uc009vwq.3_Silent_p.A111A|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010oka.2_Silent_p.A111A|TIE1_uc010okb.2_Silent_p.A111A|TIE1_uc010okc.2_Silent_p.A111A	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	111					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGCTGGGGCGCGGCGCACGC	0.697													8	24					0	0	1	0	0	A	43770796	G	A	43770796	2	1	244	1	0	0	0	0	0	0	0	1	15890	1074	38	1		1	TIE1	1	43770796	Silent	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08	21737713	43770796	205479825	2	4270											
C1orf141	400757	broad.mit.edu	37	chr1	67592860	67592860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaaacctttgttcttcTggccaagattatctctgctt	6	11	4	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:67592860T>C	uc001ddl.1	-	1	175	c.64A>G	c.(64-66)Aga>Gga	p.R22G	C1orf141_uc001ddm.1_Missense_Mutation_p.R22G|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	22								p.A21S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTGTTCTTCTGGCCAAGATT	0.313													21	84					0	0	1	0	0	C	67592860	T	C	67592860	3	2	244	1	0	0	0	0	1	0	0	0	2001	1588	55	3	1162	3	C1orf141	1	67592860	Missense_Mutation	SNP	T	TCGA-EM-A22P-01A-11D-A19J-08	23822064	67592860	181657761	3	4271											
ABCA4	24	broad.mit.edu	37	chr1	94512588	94512588	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagggctcaaaaatcttTaccagattcttcacgcatac	5	13	4	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:94512588T>C	uc001dqh.3	-	18	2909	c.2805A>G	c.(2803-2805)gtA>gtG	p.V935V	ABCA4_uc010otn.1_Silent_p.V861V	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	935	ABC transporter 1.		V -> A (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAAAATCTTTACCAGATTCT	0.498													49	175					0	0	1	0	0	C	94512588	T	C	94512588	2	2	244	1	0	0	0	0	0	0	0	1	34	1741	61	3		3	ABCA4	1	94512588	Silent	SNP	T	TCGA-EM-A22P-01A-11D-A19J-08	26919728	94512588	154738033	4	4272											
RALGPS2	55103	broad.mit.edu	37	chr1	178846740	178846740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaataatatccttcgaataAtttctgatttacagcagtct	5	7	2	2			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:178846740A>G	uc001glz.3	+	8	1053	c.715A>G	c.(715-717)Att>Gtt	p.I239V	RALGPS2_uc001gly.1_Missense_Mutation_p.I239V|RALGPS2_uc010pnb.2_Missense_Mutation_p.I239V	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	239	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCTTCGAATAATTTCTGATTT	0.338													9	35					0	0	1	0	0	G	178846740	A	G	178846740	3	3	244	1	0	0	0	0	1	0	0	0	13018	101	4	3	745	3	RALGPS2	1	178846740	Missense_Mutation	SNP	A	TCGA-EM-A22P-01A-11D-A19J-08	84334152	178846740	70403881	5	4273											
CCDC88A	55704	broad.mit.edu	37	chr2	55522862	55522862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcggcagttgagatcaCgctgcttgcacgaggtaaag	12	10	1	1	rs138449414		TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr2:55522862C>T	uc002ryv.2	-	30	6261	c.5419G>A	c.(5419-5421)Gtg>Atg	p.V1807M	CCDC88A_uc010ypa.1_Splice_Site_p.S1732_splice|CCDC88A_uc010yoz.1_Missense_Mutation_p.V1780M|CCDC88A_uc002ryt.2_Missense_Mutation_p.V98M|CCDC88A_uc010fbw.2_Missense_Mutation_p.V309M|CCDC88A_uc002ryu.2_Missense_Mutation_p.V1062M|CCDC88A_uc002rys.3_Missense_Mutation_p.V765M|CCDC88A_uc002ryw.3_Missense_Mutation_p.V1091M|CCDC88A_uc010fby.1_Missense_Mutation_p.V659M	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1808					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTGAGATCACGCTGCTTGCA	0.423													27	89					0	0	1	0	0	T	55522862	C	T	55522862	3	4	244	1	0	0	0	0	1	0	0	0	2863	536	19	1	201	1	CCDC88A	2	55522862	Missense_Mutation	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		55522862	187676511	6	4274											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199951	26199951	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtccaccccgacaccggcatCtcatccaaggccatgggcat	9	17	1	0			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr6:26199951C>T	uc003ngx.3	+	0	165	c.165C>T	c.(163-165)atC>atT	p.I55I	HIST1H3D_uc003ngv.3_5'Flank|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2AD_uc003ngw.3_5'Flank	NM_003522	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bf (HIST1H2BF), mRNA.	55					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACACCGGCATCTCATCCAAGG	0.567													57	225					0	0	1	0	0	T	26199951	C	T	26199951	2	4	244	1	0	0	0	0	0	0	0	1	7145	903	32	2		2	HIST1H2BF	6	26199951	Silent	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		26199951	144915116	7	4275											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	64					0	0	1	0	0	T	140453136	A	T	140453136	3	4	244	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22P-01A-11D-A19J-08		140453136	18685527	8	4276											
TUBGCP2	10844	broad.mit.edu	37	chr10	135098728	135098728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggctttcctgcaagagaCgtggcggcacctcaggtggg	17	10	1	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr10:135098728C>T	uc009ybk.1	-	11	2311	c.1954G>A	c.(1954-1956)Gtc>Atc	p.V652I	TUBGCP2_uc001lmf.1_Intron|TUBGCP2_uc001lmg.1_Intron|TUBGCP2_uc010qvc.1_Intron|TUBGCP2_uc010qvd.1_Intron|TUBGCP2_uc001lmh.1_Intron	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	629					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTGCAAGAGACGTGGCGGCAC	0.637													6	27					0	0	1	0	0	T	135098728	C	T	135098728	3	4	244	1	0	0	0	0	1	0	0	0	16763	551	19	1		1	TUBGCP2	10	135098728	Missense_Mutation	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		135098728	436019	9	4277											
ATG2A	23130	broad.mit.edu	37	chr11	64679415	64679415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctcagagagggctgagGccacactgcttgtgaggcca	15	10	1	4			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr11:64679415G>A	uc001obx.3	-	8	1242	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	376							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GAGGGCTGAGGCCACACTGCT	0.652													7	24					0	0	1	0	0	A	64679415	G	A	64679415	3	1	244	1	0	0	0	0	1	0	0	0	1093	1203	42	2	4821	2	ATG2A	11	64679415	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		64679415	70327101	10	4278											
TBK1	29110	broad.mit.edu	37	chr12	64891007	64891007	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgttttgatattgaagaaGaagtatcaaaatatcaagaa	8	2	2	5			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr12:64891007G>A	uc001ssc.2	+	17	2086	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	643					I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TATTGAAGAAGAAGTATCAAA	0.308													7	113					0	0	1	0	0	A	64891007	G	A	64891007	3	1	244	1	0	0	0	0	1	0	0	0	15634	943	33	2	1993	2	TBK1	12	64891007	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		64891007	68960888	11	4279											
IL17D	53342	broad.mit.edu	37	chr13	21296003	21296003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacctgcgtccccgagccGgagaaggacgcagacagcat	13	14	0	2			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr13:21296003G>A	uc001unm.3	+	2	627	c.519G>A	c.(517-519)ccG>ccA	p.P173P		NM_138284	NP_612141	Q8TAD2	IL17D_HUMAN	Homo sapiens interleukin 17D (IL17D), mRNA.	173					inflammatory response	extracellular space	cytokine activity			endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		TCCCCGAGCCGGAGAAGGACG	0.716													4	79					0	0	1	0	0	A	21296003	G	A	21296003	2	1	244	1	0	0	0	0	0	0	0	1	7637	1103	39	1		1	IL17D	13	21296003	Silent	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		21296003	93873875	12	4280											
AQP4	361	broad.mit.edu	37	chr18	24445624	24445624	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaagaaggacttacccCcaccgccttgctgtgggtct	11	13	1	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr18:24445624C>T	uc002kwa.3	-	0	93	c.30G>A	c.(28-30)tgG>tgA	p.W10*	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	10					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GGACTTACCCCCACCGCCTTG	0.522													35	115					0	0	1	0	0	T	24445624	C	T	24445624	4	4	244	1	0	0	0	0	0	1	0	0	828	624	22	2	961	2	AQP4	18	24445624	Nonsense_Mutation	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		24445624	53631624	13	4281											
MUC16	94025	broad.mit.edu	37	chr19	9090520	9090520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtcatagatgtattcaaaGttccttctgtttcctttcca	6	9	3	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr19:9090520G>T	uc002mkp.3	-	0	1499	c.1295C>A	c.(1294-1296)aCt>aAt	p.T432N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	432	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T432T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTATTCAAAGTTCCTTCTGT	0.488													20	67					0	0	1	0	0	T	9090520	G	T	9090520	3	4	244	1	0	0	0	0	1	0	0	0	9973	1029	36	4	42564	4	MUC16	19	9090520	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		9090520	50038463	14	4282											
PRRG1	5638	broad.mit.edu	37	chrX	37312552	37312552	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctaagaaacaaaactcgtaGacagacagtgactgaaggcc	9	10	0	5			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chrX:37312552G>A	uc004ddn.3	+	4	588	c.335G>A	c.(334-336)aGa>aAa	p.R112K	PRRG1_uc004ddo.3_Missense_Mutation_p.R112K|PRRG1_uc022buu.1_Missense_Mutation_p.R112K|PRRG1_uc022buv.1_Missense_Mutation_p.R112K	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	112						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAACTCGTAGACAGACAGTG	0.438													23	41					0	0	1	0	0	A	37312552	G	A	37312552	3	1	244	1	0	0	0	0	1	0	0	0	12605	942	33	2	427	2	PRRG1	23	37312552	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		37312552	117958008	15	4283											
ZNF185	7739	broad.mit.edu	37	chrX	152139069	152139069	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattcactgtgggaaatgctAtgagaagctcttctaggtgg	12	7	3	1			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chrX:152139069A>T	uc011myg.2	+	22	2198	c.2150A>T	c.(2149-2151)tAt>tTt	p.Y717F	ZNF185_uc011myi.2_Missense_Mutation_p.Y656F|ZNF185_uc011myj.2_Missense_Mutation_p.Y626F|ZNF185_uc011myh.2_Missense_Mutation_p.Y688F|ZNF185_uc011myk.2_Missense_Mutation_p.Y686F|ZNF185_uc010ntv.2_Missense_Mutation_p.Y685F|ZNF185_uc004fgw.4_Missense_Mutation_p.Y464F|ZNF185_uc004fgu.3_Missense_Mutation_p.Y314F|ZNF185_uc004fgv.3_Missense_Mutation_p.Y382F|ZNF185_uc004fgx.3_Missense_Mutation_p.Y323F	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	685						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAAATGCTATGAGAAGCTC	0.498													4	41					0	0	1	0	0	T	152139069	A	T	152139069	3	4	244	1	0	0	0	0	1	0	0	0	17749	449	16	5	2384	5	ZNF185	23	152139069	Missense_Mutation	SNP	A	TCGA-EM-A22P-01A-11D-A19J-08	114826517	152139069	3131491	16	4284											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			55	103					0	0	1	0	0	T	115256530	G	T	115256530	3	4	245	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A22Q-01A-11D-A17V-08		115256530	133994091	1	4285											
POLR1B	84172	broad.mit.edu	37	chr2	113332950	113332950	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaaggacaactggagccCgagacagagtcaccaaccag	11	11	1	2			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr2:113332950C>T	uc002thw.2	+	14	3632	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	POLR1B_uc010fkn.2_Nonsense_Mutation_p.R962*|POLR1B_uc002thx.2_Nonsense_Mutation_p.R879*|POLR1B_uc010fko.2_Nonsense_Mutation_p.R835*|POLR1B_uc010fkp.2_Nonsense_Mutation_p.R457*|POLR1B_uc002thy.2_Nonsense_Mutation_p.R879*|POLR1B_uc010yxo.1_Nonsense_Mutation_p.R795*	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	1018					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACTGGAGCCCGAGACAGAGT	0.488													25	48					0	0	1	0	0	T	113332950	C	T	113332950	4	4	245	1	0	0	0	0	0	1	0	0	12210	644	23	1	3110	1	POLR1B	2	113332950	Nonsense_Mutation	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08		113332950	129866423	2	4286											
YEATS2	55689	broad.mit.edu	37	chr3	183472085	183472085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaattgttccacaaagtcAggttcctaatcctgagtcac	6	11	2	1			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr3:183472085A>G	uc003fly.2	+	10	1517	c.1322A>G	c.(1321-1323)cAg>cGg	p.Q441R		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	441					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACAAAGTCAGGTTCCTAAT	0.448													3	61					0	0	1	0	0	G	183472085	A	G	183472085	3	3	245	1	0	0	0	0	1	0	0	0	17469	188	7	3	1360	3	YEATS2	3	183472085	Missense_Mutation	SNP	A	TCGA-EM-A22Q-01A-11D-A17V-08		183472085	14550345	3	4287											
FRAS1	80144	broad.mit.edu	37	chr4	79360116	79360116	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatagcttctatttctctgtCtctgacatggaccacaacca	6	12	3	1			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr4:79360116C>G	uc003hlb.2	+	39	5867	c.5427C>G	c.(5425-5427)gtC>gtG	p.V1809V	FRAS1_uc003hkw.3_Silent_p.V1809V|FRAS1_uc010ijj.2_Silent_p.V229V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1808					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTTCTCTGTCTCTGACATGG	0.378													52	94					0	0	1	0	0	G	79360116	C	G	79360116	2	3	245	1	0	0	0	0	0	0	0	1	6042	900	32	4		4	FRAS1	4	79360116	Silent	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08		79360116	111794160	4	4288											
ADAM12	8038	broad.mit.edu	37	chr10	127737869	127737869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacaagccctgggtccgGcatgtcatcgcccaagtaca	10	14	1	0			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr10:127737869G>A	uc001ljk.2	-	15	2292	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	ADAM12_uc010qul.1_Missense_Mutation_p.P578S|ADAM12_uc001ljm.3_Missense_Mutation_p.P627S|ADAM12_uc001ljn.3_Missense_Mutation_p.P624S|ADAM12_uc001ljl.4_Missense_Mutation_p.P624S	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	627	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTGGGTCCGGCATGTCATCG	0.527													5	239					0	0	1	0	0	A	127737869	G	A	127737869	3	1	245	1	0	0	0	0	1	0	0	0	236	1203	42	2	990	2	ADAM12	10	127737869	Missense_Mutation	SNP	G	TCGA-EM-A22Q-01A-11D-A17V-08		127737869	7796878	5	4289											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956323	18956323	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccaaggttgagatggtTggatccatgctcagaaaccc	12	9	1	2			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr11:18956323T>A	uc001mpg.3	-	0	227	c.9A>T	c.(7-9)ccA>ccT	p.P3P		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	3					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P3T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGATGGTTGGATCCATGC	0.517													60	114					0	0	1	0	0	A	18956323	T	A	18956323	2	1	245	1	0	0	0	0	0	0	0	1	9766	1799	63	5		5	MRGPRX1	11	18956323	Silent	SNP	T	TCGA-EM-A22Q-01A-11D-A17V-08		18956323	116050193	6	4290											
RBM7	10179	broad.mit.edu	37	chr11	114271421	114271421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcggcggcggaagcggatCgcactctctttgtgggcaac	16	12	1	0			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr11:114271421C>T	uc001pow.3	+	0	38	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.4_5'Flank|RBM7_uc001pov.3_Missense_Mutation_p.R10C|RBM7_uc001pox.3_5'UTR	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	10	RRM.				meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGAAGCGGATCGCACTCTCTT	0.627													23	51					0	0	1	0	0	T	114271421	C	T	114271421	3	4	245	1	0	0	0	0	1	0	0	0	13145	884	31	1	30	1	RBM7	11	114271421	Missense_Mutation	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08	95315098	114271421	20735095	7	4291											
SPRYD4	283377	broad.mit.edu	37	chr12	56862411	56862411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgttctttgcgcttgtgCcgctggggagccaaacgatt	13	11	1	0			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr12:56862411C>T	uc001sli.4	+	0	111	c.36C>T	c.(34-36)tgC>tgT	p.C12C	SPRYD4_uc010sqo.1_Silent_p.C12C	NM_207344	NP_997227	Q8WW59	SPRY4_HUMAN	Homo sapiens SPRY domain containing 4 (SPRYD4), mRNA.	12	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						TGCGCTTGTGCCGCTGGGGAG	0.567													4	112					0	0	1	0	0	T	56862411	C	T	56862411	2	4	245	1	0	0	0	0	0	0	0	1	15109	747	26	2		2	SPRYD4	12	56862411	Silent	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08		56862411	76989484	8	4292											
SIPA1L1	26037	broad.mit.edu	37	chr14	72202102	72202102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggcccagatgaagccttAcagcaggttggtcccagtgc	12	12	1	2			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr14:72202102A>G	uc001xms.3	+	19	5541	c.5180A>G	c.(5179-5181)tAc>tGc	p.Y1727C	SIPA1L1_uc001xmt.3_Missense_Mutation_p.Y1706C|SIPA1L1_uc001xmu.3_Missense_Mutation_p.Y1706C|SIPA1L1_uc001xmv.3_Missense_Mutation_p.Y1727C|SIPA1L1_uc010ttm.2_Missense_Mutation_p.Y1181C	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1727					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.P1726L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGAAGCCTTACAGCAGGTTG	0.542													9	79					0	0	1	0	0	G	72202102	A	G	72202102	3	3	245	1	0	0	0	0	1	0	0	0	14329	391	14	3	5254	3	SIPA1L1	14	72202102	Missense_Mutation	SNP	A	TCGA-EM-A22Q-01A-11D-A17V-08		72202102	35147438	9	4293											
ZNF480	147657	broad.mit.edu	37	chr19	52817523	52817523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagaactacaggaacctgGtctccctgggtgaggatcat	13	9	2	2			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr19:52817523G>T	uc010ydl.2	+	2	260	c.190G>T	c.(190-192)Gtc>Ttc	p.V64F	ZNF480_uc002pyv.3_Intron|ZNF480_uc010ydm.2_Missense_Mutation_p.V64F|ZNF480_uc010epn.3_Intron|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CAGGAACCTGGTCTCCCTGGG	0.542													34	83					0	0	1	0	0	T	52817523	G	T	52817523	3	4	245	1	0	0	0	0	1	0	0	0	17932	1261	44	4	196	4	ZNF480	19	52817523	Missense_Mutation	SNP	G	TCGA-EM-A22Q-01A-11D-A17V-08		52817523	6311460	10	4294											
CCDC27	148870	broad.mit.edu	37	chr1	3677920	3677920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgctccaggaggagaggGaggccctgaagatgcagctg	17	9	0	3			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:3677920G>A	uc001akv.2	+	4	868	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	263										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGGAGAGGGAGGCCCTGAA	0.592													8	71					0	0	1	0	0	A	3677920	G	A	3677920	3	1	246	1	0	0	0	0	1	0	0	0	2801	1175	41	2	805	2	CCDC27	1	3677920	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08		3677920	245572701	1	4295											
FRRS1	391059	broad.mit.edu	37	chr1	100181191	100181191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcataacaaaagcaatgcagGtgaggacagttgtggtgaac	13	6	0	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:100181191G>T	uc001dsh.1	-	11	1876	c.1274C>A	c.(1273-1275)aCc>aAc	p.T425N	MIR548D1_uc021oqn.1_5'Flank	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	425	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGCAATGCAGGTGAGGACAGT	0.373													23	59					0	0	1	0	0	T	100181191	G	T	100181191	3	4	246	1	0	0	0	0	1	0	0	0	6060	1261	44	4	630	4	FRRS1	1	100181191	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	96503271	100181191	149069430	2	4296											
IFI16	3428	broad.mit.edu	37	chr1	158990261	158990261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccaacttttctgctttcGacttagaaaaaagaaccaga	6	10	1	3			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:158990261G>A	uc001ftg.3	+	5	1393	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	IFI16_uc010pis.2_Missense_Mutation_p.R312Q|IFI16_uc010pit.2_Missense_Mutation_p.R368Q	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	368	HIN-200 1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TTCTGCTTTCGACTTAGAAAA	0.358													42	43					0	0	1	0	0	A	158990261	G	A	158990261	3	1	246	1	0	0	0	0	1	0	0	0	7511	1058	37	1	1121	1	IFI16	1	158990261	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	58809070	158990261	90260360	3	4297											
FAM5C	339479	broad.mit.edu	37	chr1	190129933	190129933	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcataacggcgctgaaaaTtagaatccattgtccacaaa	7	9	1	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:190129933T>G	uc001gse.1	-	6	1281	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	FAM5C_uc010pot.1_Missense_Mutation_p.N248T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	350						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCGCTGAAAATTAGAATCCAT	0.353													4	134					0	0	1	0	0	G	190129933	T	G	190129933	3	3	246	1	0	0	0	0	1	0	0	0	5594	1493	52	5	1259	5	FAM5C	1	190129933	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08	31139672	190129933	59120688	4	4298											
MIA3	375056	broad.mit.edu	37	chr1	222825616	222825616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttagtgaagagaaggtgaAgtctgaatgccatcgggttc	14	6	1	4			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:222825616A>C	uc001hnl.3	+	12	4037	c.4028A>C	c.(4027-4029)aAg>aCg	p.K1343T	MIA3_uc009xea.1_Intron|MIA3_uc001hnm.3_Missense_Mutation_p.K221T	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1343					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAGAAGGTGAAGTCTGAATGC	0.378													6	103					0	0	1	0	0	C	222825616	A	C	222825616	3	2	246	1	0	0	0	0	1	0	0	0	9565	72	3	5	4078	5	MIA3	1	222825616	Missense_Mutation	SNP	A	TCGA-EM-A2CJ-01A-11D-A17V-08	32695683	222825616	26425005	5	4299											
ATF6B	1388	broad.mit.edu	37	chr6	32083526	32083526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcagaggtcagggatgaTtgaggtagaggggctggtgg	21	3	1	4			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:32083526T>C	uc003nzn.3	-	17	2135	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.N698S	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	701					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCAGGGATGATTGAGGTAGAG	0.612													5	113					0	0	1	0	0	C	32083526	T	C	32083526	3	2	246	1	0	0	0	0	1	0	0	0	1085	1493	52	3	13	3	ATF6B	6	32083526	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		32083526	139031541	6	4300											
ABCC10	89845	broad.mit.edu	37	chr6	43400340	43400340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggagcccctcctgcccgagGatcaagaacctgaggtggct	13	13	1	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:43400340G>T	uc003ouy.1	+	2	837	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	ABCC10_uc003ouz.1_Missense_Mutation_p.D165Y	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	208				D -> E (in Ref. 1; AAK39642).		integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTGCCCGAGGATCAAGAACC	0.637													18	135					0	0	1	0	0	T	43400340	G	T	43400340	3	4	246	1	0	0	0	0	1	0	0	0	50	1174	41	4	495	4	ABCC10	6	43400340	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	11316814	43400340	127714727	7	4301											
TTC16	158248	broad.mit.edu	37	chr9	130487098	130487098	+	Frame_Shift_Del	DEL	T	T	-													ctaccagcaggcgctggcgcTgagccctcaggacgagggcg							TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr9:130487098delT	uc004brq.1	+	8	1248	c.1181delT	c.(1180-1182)ctgfs	p.L394fs	PTRH1_uc011mah.2_5'UTR|TTC16_uc011mai.1_Frame_Shift_Del_p.L381fs|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	394							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCGCTGGCGCTGAGCCCTCAG	0.682													15	14	---	---	---	---						-	130487098	T	-	130487098	7	5	246	1	0	1	0	1	0	0	0	0	16680	1580	55	0	1215	0	TTC16	9	130487098	Frame_Shift_Del	DEL	T	TCGA-EM-A2CJ-01A-11D-A17V-08		130487098	10726333	8	4302											
TRPM5	29850	broad.mit.edu	37	chr11	2433483	2433483	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgtctgtgaagaagcCctgggagggaggtgggcagt	18	8	1	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr11:2433483C>G	uc010qxl.2	-	16	2365	c.2356_splice	c.e16-1	p.G786_splice	TRPM5_uc001lwm.4_Splice_Site_p.G786_splice|TRPM5_uc009ydn.3_Splice_Site_p.G788_splice	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	786						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGAAGAAGCCCTGGGAGGGA	0.562													46	101					0	0	1	0	0	G	2433483	C	G	2433483	5	3	246	1	0	0	0	0	0	0	1	0	16586	637	22	4	1177	4	TRPM5	11	2433483	Splice_Site	SNP	C	TCGA-EM-A2CJ-01A-11D-A17V-08		2433483	132573033	9	4303											
ERGIC2	51290	broad.mit.edu	37	chr12	29509405	29509405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagactgtgatgaatcaTcttctctgttaaaataagat	8	5	3	4			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr12:29509405T>C	uc001riv.3	-	7	615	c.482A>G	c.(481-483)gAt>gGt	p.D161G	ERGIC2_uc001riw.3_Non-coding_Transcript	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	Homo sapiens ERGIC and golgi 2 (ERGIC2), mRNA.	161					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|nucleus		p.D161A(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	TGATGAATCATCTTCTCTGTT	0.308													4	76					0	0	1	0	0	C	29509405	T	C	29509405	3	2	246	1	0	0	0	0	1	0	0	0	5224	1435	50	3	679	3	ERGIC2	12	29509405	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		29509405	104342490	10	4304											
MYO5A	4644	broad.mit.edu	37	chr15	52605985	52605985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgaaaggaaaggtgacagGaaagatgtgtttagcatcca	13	4	0	3			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:52605985G>A	uc002aby.2	-	40	5720	c.5476C>T	c.(5476-5478)Cct>Tct	p.P1826S	MYO5A_uc002abx.3_Missense_Mutation_p.P1799S|MYO5A_uc010ugd.1_Missense_Mutation_p.P548S	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1826					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAGGTGACAGGAAAGATGTGT	0.473													4	59					0	0	1	0	0	A	52605985	G	A	52605985	3	1	246	1	0	0	0	0	1	0	0	0	10078	1174	41	2	95	2	MYO5A	15	52605985	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08		52605985	49925407	11	4305											
RPL4	6124	broad.mit.edu	37	chr15	66792426	66792426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagaatggtgttccggcGcatggtctttgcatatgggt	15	7	1	1			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:66792426G>A	uc002apv.3	-	8	1071	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	SNAPC5_uc002apu.1_5'Flank|RPL4_uc002apx.3_Missense_Mutation_p.R242C	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	336					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GTGTTCCGGCGCATGGTCTTT	0.448													12	70					0	0	1	0	0	A	66792426	G	A	66792426	3	1	246	1	0	0	0	0	1	0	0	0	13595	1087	38	1	285	1	RPL4	15	66792426	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	14186441	66792426	35738966	12	4306											
MYH1	4619	broad.mit.edu	37	chr17	10404034	10404034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttaatttcactcagttgAtcttctagagcgcggcacat	8	10	5	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr17:10404034A>G	uc002gmo.3	-	27	3868	c.3774T>C	c.(3772-3774)gaT>gaC	p.D1258D	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1258						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACTCAGTTGATCTTCTAGAG	0.468													4	90					0	0	1	0	0	G	10404034	A	G	10404034	2	3	246	1	0	0	0	0	0	0	0	1	10029	330	12	3		3	MYH1	17	10404034	Silent	SNP	A	TCGA-EM-A2CJ-01A-11D-A17V-08		10404034	70791176	13	4307											
TCF3	6929	broad.mit.edu	37	chr19	1627410	1627410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggaggcataggcgcccCgctcaccgctcttgcctgca	12	16	2	0			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:1627410C>T	uc002ltq.3	-	2	200	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	TCF3_uc002ltt.4_Missense_Mutation_p.R105Q|TCF3_uc002ltr.3_Missense_Mutation_p.R105Q|TCF3_uc002lts.1_Missense_Mutation_p.R21Q	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	105					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATAGGCGCCCCGCTCACCGCT	0.617			T	"PBX1, HLF, TFPT"	pre B-ALL								9	11					0	0	1	0	0	T	1627410	C	T	1627410	3	4	246	1	0	0	0	0	1	0	0	0	15691	652	23	1	1937	1	TCF3	19	1627410	Missense_Mutation	SNP	C	TCGA-EM-A2CJ-01A-11D-A17V-08		1627410	57501573	14	4308											
MUC16	94025	broad.mit.edu	37	chr19	9049003	9049003	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccaaaggggtcactacTcctggtacctcagttgaaac	10	11	2	2			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:9049003T>A	uc002mkp.3	-	4	32832	c.32628A>T	c.(32626-32628)ggA>ggT	p.G10876G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10878	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCACTACTCCTGGTACCT	0.478													14	110					0	0	1	0	0	A	9049003	T	A	9049003	2	1	246	1	0	0	0	0	0	0	0	1	9973	1538	54	5		5	MUC16	19	9049003	Silent	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08	7421593	9049003	50079980	15	4309											
CHMP4B	128866	broad.mit.edu	37	chr20	32440008	32440009	+	Splice_Site	DNP	CG	CG	AT													atagccctaccatcaaaaccCggtgagtgcttctagagtca							TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr20:32440008_32440009CG>AT	uc002xaa.3	+	4	775	c.610_splice	c.e4+1	p.A204_splice		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	Homo sapiens charged multivesicular body protein 4B (CHMP4B), mRNA.	204					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						CATCAAAACCCGGTGAGTGCTT	0.495													5	176					0	0	1	0	0	AT	32440009	CG	AT	32440008	5	1	246	1	0	0	0	0	0	0	1	0	3357	666	23	4	623	4	CHMP4B	20	32440008	Splice_Site	DNP	CG	TCGA-EM-A2CJ-01A-11D-A17V-08		32440008	30585512	16	4310											
ALG13	79868	broad.mit.edu	37	chrX	110951444	110951444	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttccctcttgccacgcTttttttcctctccctcttac	2	17	3	0			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chrX:110951444T>C	uc011msy.2	+	3	674	c.573T>C	c.(571-573)gcT>gcC	p.A191A	ALG13_uc011msw.2_Silent_p.A113A|ALG13_uc011msx.2_Silent_p.A87A|ALG13_uc011msz.2_Silent_p.A113A|ALG13_uc011mta.2_Silent_p.A87A|ALG13_uc011mtb.2_Silent_p.A87A	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	191					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						CTTGCCACGCTTTTTTTCCTC	0.483													3	84					0	0	1	0	0	C	110951444	T	C	110951444	2	2	246	1	0	0	0	0	0	0	0	1	515	1596	56	3		3	ALG13	23	110951444	Silent	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		110951444	44319116	17	4311											
FHL3	2275	broad.mit.edu	37	chr1	38463709	38463709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgagcacccttgtcggGcacaaaagaacgggagccca	13	11	0	2			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr1:38463709G>C	uc001cck.3	-	3	606	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A	FHL3_uc001ccm.3_Missense_Mutation_p.P35A|FHL3_uc009vvl.2_Missense_Mutation_p.P143A	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	143	LIM zinc-binding 2.				muscle organ development		zinc ion binding	p.P143S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622													47	81					0	0	1	0	0	C	38463709	G	C	38463709	3	2	247	1	0	0	0	0	1	0	0	0	5880	1203	42	4	427	4	FHL3	1	38463709	Missense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08		38463709	210786912	1	4312											
PPP1R1C	151242	broad.mit.edu	37	chr2	182852550	182852550	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcactgatattagctgggCttttgtcgttcacagatcag	9	9	3	2			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr2:182852550C>A	uc010frm.1	+	1	374	c.87C>A	c.(85-87)ggC>ggA	p.G29G	PPP1R1C_uc002uoo.3_Intron|PPP1R1C_uc002uop.1_Intron|PPP1R1C_uc010frn.1_Intron	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA.	27					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			ATTAGCTGGGCTTTTGTCGTT	0.443													53	73					0	0	1	0	0	A	182852550	C	A	182852550	2	1	247	1	0	0	0	0	0	0	0	1	12369	812	28	4		4	PPP1R1C	2	182852550	Silent	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		182852550	60346823	2	4313											
MOG	4340	broad.mit.edu	37	chr6	29639214	29639214	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccagtcttccacctggaagCcctctctggctaaggacagg	10	14	2	0			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr6:29639214C>G	uc003nne.3	+	7	975	c.746C>G	c.(745-747)gCc>gGc	p.A249G	MOG_uc003nna.3_3'UTR|MOG_uc011dlt.2_3'UTR|MOG_uc011dlv.2_3'UTR|MOG_uc011dlu.2_3'UTR|MOG_uc003nnf.3_3'UTR|MOG_uc003nng.3_Missense_Mutation_p.A226G|MOG_uc003nni.3_3'UTR|MOG_uc003nnh.3_Missense_Mutation_p.A210G|MOG_uc003nnj.3_3'UTR|MOG_uc003nnk.3_Missense_Mutation_p.A203G	NM_002433	NP_002424	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant beta1, mRNA.	0					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CACCTGGAAGCCCTCTCTGGC	0.488													40	66					0	0	1	0	0	G	29639214	C	G	29639214	3	3	247	1	0	0	0	0	1	0	0	0	9693	739	26	4	930	4	MOG	6	29639214	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		29639214	141475853	3	4314											
PCM1	5108	broad.mit.edu	37	chr8	17830011	17830011	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacggaagaagacgccagtTtgatgaagaatcactggaaa	11	6	1	5			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr8:17830011T>G	uc022asj.1	+	21	3897	c.3875T>G	c.(3874-3876)tTt>tGt	p.F1292C	PCM1_uc003wyi.4_Missense_Mutation_p.F1253C|PCM1_uc011kyh.2_Missense_Mutation_p.F1253C|PCM1_uc003wyj.4_Missense_Mutation_p.F1254C|PCM1_uc011kyi.2_Missense_Mutation_p.F115C|PCM1_uc011kyj.2_5'UTR|PCM1_uc003wyk.4_5'UTR	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1253	Interaction with HAP1.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGACGCCAGTTTGATGAAGAA	0.393			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								6	94					0	0	1	0	0	G	17830011	T	G	17830011	3	3	247	1	0	0	0	0	1	0	0	0	11584	1841	64	5	3840	5	PCM1	8	17830011	Missense_Mutation	SNP	T	TCGA-EM-A2CK-01A-11D-A17V-08		17830011	128534011	4	4315											
CYP11B1	1584	broad.mit.edu	37	chr8	143957756	143957756	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgccacgatgctggtgtaCtgttgagggcggctgaaggc	16	10	0	2			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr8:143957756C>G	uc010mey.3	-	6	1075	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'UTR|CYP11B1_uc003yxi.3_Missense_Mutation_p.Q285H|CYP11B1_uc003yxj.3_Missense_Mutation_p.Q285H	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	285					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TGCTGGTGTACTGTTGAGGGC	0.582									Familial Hyperaldosteronism type I				4	43					0	0	1	0	0	G	143957756	C	G	143957756	3	3	247	1	0	0	0	0	1	0	0	0	4145	564	20	4	676	4	CYP11B1	8	143957756	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08	126127745	143957756	2406266	5	4316											
LRRC8A	56262	broad.mit.edu	37	chr9	131670993	131670993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatctatagcctgaagaCactggaggagctgcacctga	13	9	1	3			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr9:131670993C>T	uc004bwl.4	+	2	1804	c.1550C>T	c.(1549-1551)aCa>aTa	p.T517I	LRRC8A_uc010myp.3_Missense_Mutation_p.T517I|LRRC8A_uc010myq.3_Missense_Mutation_p.T517I	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	517					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCTGAAGACACTGGAGGAG	0.622													15	41					0	0	1	0	0	T	131670993	C	T	131670993	3	4	247	1	0	0	0	0	1	0	0	0	9021	478	17	2	1552	2	LRRC8A	9	131670993	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		131670993	9542438	6	4317											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			52	72					0	0	1	0	0	C	533874	T	C	533874	3	2	247	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EM-A2CK-01A-11D-A17V-08		533874	134472642	7	4318											
TEX14	56155	broad.mit.edu	37	chr17	56690784	56690784	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaaacagcagtttactcGttcatgaaggacactgaaca	9	9	1	2	rs141801212	byFrequency	TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr17:56690784G>A	uc010dcz.2	-	8	1139	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	TEX14_uc002iwr.2_Nonsense_Mutation_p.R335*|TEX14_uc002iws.2_Nonsense_Mutation_p.R335*|TEX14_uc010dda.2_Nonsense_Mutation_p.R115*	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	341	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGTTTACTCGTTCATGAAGG	0.517													41	75					0	0	1	0	0	A	56690784	G	A	56690784	4	1	247	1	0	0	0	0	0	1	0	0	15775	1153	40	1	3572	1	TEX14	17	56690784	Nonsense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08		56690784	24504426	8	4319											
CHST8	64377	broad.mit.edu	37	chr19	34262953	34262953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggggccccgaggggccGcaacctgccagcgcctgacc	15	17	0	1			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr19:34262953G>A	uc002nus.4	+	4	765	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CHST8_uc002nut.4_Missense_Mutation_p.R87H|CHST8_uc002nuu.3_Missense_Mutation_p.R87H	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	87					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCGAGGGGCCGCAACCTGCCA	0.667													14	30					0	0	1	0	0	A	34262953	G	A	34262953	3	1	247	1	0	0	0	0	1	0	0	0	3410	1087	38	1	270	1	CHST8	19	34262953	Missense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08		34262953	24866030	9	4320											
LRFN3	79414	broad.mit.edu	37	chr19	36430922	36430922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctgtgcccgccggcGctttttcccgcctgcacaag	11	16	1	0			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr19:36430922G>A	uc002oco.3	+	1	1047	c.595G>A	c.(595-597)Gct>Act	p.A199T		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	199					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCGCCGGCGCTTTTTCCCG	0.677													74	156					0	0	1	0	0	A	36430922	G	A	36430922	3	1	247	1	0	0	0	0	1	0	0	0	8939	1087	38	1	597	1	LRFN3	19	36430922	Missense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08	2167969	36430922	22698061	10	4321											
UBOX5	22888	broad.mit.edu	37	chr20	3090865	3090865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcggcacaggaggtggcCgcagggcagctggtacaccg	19	11	0	0			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr20:3090865C>T	uc002whw.3	-	4	1683	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whx.3_Missense_Mutation_p.G451S|UBOX5_uc002why.1_Missense_Mutation_p.R503Q	NM_014948	NP_055763	O94941	RNF37_HUMAN	Homo sapiens U-box domain containing 5 (UBOX5), transcript variant 1, mRNA.	505						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AGGAGGTGGCCGCAGGGCAGC	0.627													5	154					0	0	1	0	0	T	3090865	C	T	3090865	3	4	247	1	0	0	0	0	1	0	0	0	16891	652	23	1	116	1	UBOX5	20	3090865	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		3090865	59934655	11	4322											
LRRIQ3	127255	broad.mit.edu	37	chr1	74492567	74492567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctacttttgttttagcaTcttgaagtctttcacaggct	7	8	3	1			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:74492567T>C	uc001dfy.4	-	7	1997	c.1805A>G	c.(1804-1806)gAt>gGt	p.D602G	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	602										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGTTTTAGCATCTTGAAGTCT	0.313													10	18					0	0	1	0	0	C	74492567	T	C	74492567	3	2	248	1	0	0	0	0	1	0	0	0	9030	1435	50	3	73	3	LRRIQ3	1	74492567	Missense_Mutation	SNP	T	TCGA-EM-A2CL-01A-11D-A17V-08		74492567	174758054	1	4323											
AGL	178	broad.mit.edu	37	chr1	100327958	100327958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgaatgggaaagcagaCttagggttgcaaaagaatca	12	4	1	4			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:100327958C>T	uc001dsi.1	+	3	839	c.439C>T	c.(439-441)Ctt>Ttt	p.L147F	AGL_uc001dsj.1_Missense_Mutation_p.L147F|AGL_uc001dsk.1_Missense_Mutation_p.L147F|AGL_uc001dsl.1_Missense_Mutation_p.L147F|AGL_uc001dsm.1_Missense_Mutation_p.L131F|AGL_uc001dsn.1_Missense_Mutation_p.L130F	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	147					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAAAGCAGACTTAGGGTTGC	0.343													64	58					0	0	1	0	0	T	100327958	C	T	100327958	3	4	248	1	0	0	0	0	1	0	0	0	384	565	20	2	518	2	AGL	1	100327958	Missense_Mutation	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08	25835391	100327958	148922663	2	4324											
OR2L13	284521	broad.mit.edu	37	chr1	248263034	248263034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgacctccatggcctaCgaccgttatttggccatctg	8	15	1	1			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:248263034C>T	uc001ids.3	+	2	694	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_uc021pmc.1_Silent_p.Y119Y	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.Y119Y(3)|p.A118E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATGGCCTACGACCGTTATT	0.512													37	161					0	0	1	0	0	T	248263034	C	T	248263034	2	4	248	1	0	0	0	0	0	0	0	1	11006	547	19	1		1	OR2L13	1	248263034	Silent	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08	147935076	248263034	987587	3	4325											
GABRR2	2570	broad.mit.edu	37	chr6	89967652	89967652	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcagactcactgtagcttcCatccagcatcatggtttttg	7	12	3	1			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr6:89967652C>G	uc003pnb.2	-	8	1218	c.1210G>C	c.(1210-1212)Gga>Cga	p.G404R	GABRR2_uc011dzx.1_Missense_Mutation_p.G280R	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	404					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.Q404R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CTGTAGCTTCCATCCAGCATC	0.502													11	23					0	0	1	0	0	G	89967652	C	G	89967652	3	3	248	1	0	0	0	0	1	0	0	0	6177	603	21	4	266	4	GABRR2	6	89967652	Missense_Mutation	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08		89967652	81147415	4	4326											
SEMA7A	8482	broad.mit.edu	37	chr15	74708936	74708936	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacaactgggccacacGggacacattgagaggagcct	12	13	0	1			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr15:74708936G>C	uc002axv.3	-	6	821	c.781C>G	c.(781-783)Cgt>Ggt	p.R261G	SEMA7A_uc010ulk.2_Missense_Mutation_p.R96G|SEMA7A_uc010ull.2_Missense_Mutation_p.R247G	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	261	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGGGCCACACGGGACACATTG	0.557													3	62					0	0	1	0	0	C	74708936	G	C	74708936	3	2	248	1	0	0	0	0	1	0	0	0	14043	1116	39	4	1251	4	SEMA7A	15	74708936	Missense_Mutation	SNP	G	TCGA-EM-A2CL-01A-11D-A17V-08		74708936	27822456	5	4327											
MPO	4353	broad.mit.edu	37	chr17	56350266	56350266	+	Frame_Shift_Del	DEL	G	G	-													gccatgaggccccggaggatGgggtcaatgccacctgggga							TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr17:56350266delG	uc002ivu.1	-	9	1812	c.1635delC	c.(1633-1635)cccfs	p.P545fs		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	545					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCCGGAGGATGGGGTCAATGC	0.572													98	122	---	---	---	---						-	56350266	G	-	56350266	7	5	248	1	0	1	0	1	0	0	0	0	9732	1335	47	0	614	0	MPO	17	56350266	Frame_Shift_Del	DEL	G	TCGA-EM-A2CL-01A-11D-A17V-08		56350266	24844944	6	4328											
DIDO1	11083	broad.mit.edu	37	chr20	61512289	61512289	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctcaccgtcgtgctgcagCgggaagccgggctgcagggc	16	14	1	0			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr20:61512289C>G	uc002ydr.2	-	15	5331	c.5019G>C	c.(5017-5019)ccG>ccC	p.P1673P	DIDO1_uc002yds.2_Silent_p.P1673P	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1673					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGCTGCAGCGGGAAGCCGG	0.697													3	32					0	0	1	0	0	G	61512289	C	G	61512289	2	3	248	1	0	0	0	0	0	0	0	1	4522	755	27	4		4	DIDO1	20	61512289	Silent	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08		61512289	1513231	7	4329											
EIF1AX	1964	broad.mit.edu	37	chrX	20156732	20156732	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acccctgcgtctgtttttacCtcctttacctgatggtttaa	6	12	1	1			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chrX:20156732C>G	uc004czt.3	-	1	233	c.25G>C	c.(25-27)Ggt>Cgt	p.G9R	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	9						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTGTTTTTACCTCCTTTACCT	0.313													62	14					0	0	1	0	0	G	20156732	C	G	20156732	3	3	248	1	0	0	0	0	1	0	0	0	4992	681	24	4	433	4	EIF1AX	23	20156732	Missense_Mutation	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08		20156732	135113828	8	4330											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			116	172					0	0	1	0	0	C	115256529	T	C	115256529	3	2	249	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		115256529	133994092	1	4331											
HIST2H3D	653604	broad.mit.edu	37	chr1	149785212	149785212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccgccggtcgacttgcGggcagtctgcttagtacggg	15	12	1	0			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:149785212G>A	uc010pbl.2	-	0	25	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	HIST2H2BF_uc010pbj.2_5'Flank|HIST2H2BF_uc010pbk.2_5'Flank|HIST2H2BF_uc001esr.3_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	Homo sapiens histone cluster 2, H3d (HIST2H3D), mRNA.	9					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	p.A8V(1)|p.A8A(1)		biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GTCGACTTGCGGGCAGTCTGC	0.602													37	49					0	0	1	0	0	A	149785212	G	A	149785212	3	1	249	1	0	0	0	0	1	0	0	0	7181	1116	39	1	387	1	HIST2H3D	1	149785212	Missense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08	34528683	149785212	99465409	2	4332											
WBP1	23559	broad.mit.edu	37	chr2	74685770	74685770	+	Frame_Shift_Del	DEL	G	G	-													gaacggcagcgaggaggcctGgggggcacttcgggcgccgc							TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr2:74685770delG	uc002slj.2	+	0	244	c.41delG	c.(40-42)tggfs	p.W14fs	INO80B_uc002sli.2_Intron|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	14							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGAGGCCTGGGGGGCACTT	0.632													2	4	---	---	---	---						-	74685770	G	-	74685770	7	5	249	1	0	1	0	1	0	0	0	0	17254	1357	47	0	43	0	WBP1	2	74685770	Frame_Shift_Del	DEL	G	TCGA-EM-A2CN-01A-11D-A19J-08		74685770	168513603	3	4333											
KLHL24	54800	broad.mit.edu	37	chr3	183397022	183397022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccaggccagtgtcctAtcatggctgtgtgactattc	10	11	1	1	rs143529905		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr3:183397022A>G	uc003flv.3	+	7	2046	c.1751A>G	c.(1750-1752)tAt>tGt	p.Y584C	KLHL24_uc003flw.3_Missense_Mutation_p.Y584C	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	584						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAGTGTCCTATCATGGCTGT	0.463													33	36					0	0	1	0	0	G	183397022	A	G	183397022	3	3	249	1	0	0	0	0	1	0	0	0	8379	449	16	3	1773	3	KLHL24	3	183397022	Missense_Mutation	SNP	A	TCGA-EM-A2CN-01A-11D-A19J-08		183397022	14625408	4	4334											
TBC1D7	51256	broad.mit.edu	37	chr6	13307860	13307860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggattcaggcaaacatcCcgcaaagcacctcttgaacc	7	14	2	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:13307860C>T	uc003naj.3	-	5	745	c.637G>A	c.(637-639)Gga>Aga	p.G213R	TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Missense_Mutation_p.G213R|TBC1D7_uc003nan.3_Missense_Mutation_p.G213R|TBC1D7_uc003nam.3_Missense_Mutation_p.G213R|TBC1D7_uc003nao.3_Missense_Mutation_p.G186R|TBC1D7_uc010jpd.3_Missense_Mutation_p.G167R	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	213	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GGCAAACATCCCGCAAAGCAC	0.483													40	56					0	0	1	0	0	T	13307860	C	T	13307860	3	4	249	1	0	0	0	0	1	0	0	0	15621	632	22	2	256	2	TBC1D7	6	13307860	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08		13307860	157807207	5	4335											
C6orf47	57827	broad.mit.edu	37	chr6	31627090	31627090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagaggcccagcggtccaCgcaggcccagtgtgtccaag	14	15	0	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:31627090C>A	uc003nvm.1	-	0	1460	c.635G>T	c.(634-636)cGt>cTt	p.R212L		NM_021184	NP_067007	O95873	CF047_HUMAN	Homo sapiens chromosome 6 open reading frame 47 (C6orf47), mRNA.	212										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CAGCGGTCCACGCAGGCCCAG	0.637													45	34					0	0	1	0	0	A	31627090	C	A	31627090	3	1	249	1	0	0	0	0	1	0	0	0	2364	536	19	4	253	4	C6orf47	6	31627090	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	18319230	31627090	139487977	6	4336											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324743	86324743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctctcgcacctcgaaCgcctcttgctgatccaggac	7	18	2	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:86324743C>T	uc003pla.2	-	10	2144	c.1603G>A	c.(1603-1605)Gtt>Att	p.V535I	SYNCRIP_uc003pku.3_Missense_Mutation_p.V535I|SYNCRIP_uc003pkv.3_Missense_Mutation_p.V535I|SYNCRIP_uc003pkw.3_Missense_Mutation_p.V500I|SYNCRIP_uc003pkx.3_Missense_Mutation_p.V383I|SYNCRIP_uc003pky.3_Missense_Mutation_p.V437I|SYNCRIP_uc003pkz.2_Missense_Mutation_p.V500I	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	535	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	p.G534S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCACCTCGAACGCCTCTTGCT	0.627													39	177					0	0	1	0	0	T	86324743	C	T	86324743	3	4	249	1	0	0	0	0	1	0	0	0	15441	536	19	1	318	1	SYNCRIP	6	86324743	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	54697653	86324743	84790324	7	4337											
LAMC3	10319	broad.mit.edu	37	chr9	133917103	133917103	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcccctgcaaagagaatgtgGaaggcaacctatgtgacagg	13	9	0	2			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr9:133917103G>T	uc004caa.1	+	6	1461	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	455	Laminin EGF-like 4.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAGAATGTGGAAGGCAACCT	0.582													13	43					0	0	1	0	0	T	133917103	G	T	133917103	4	4	249	1	0	0	0	0	0	1	0	0	8616	1175	41	4	1389	4	LAMC3	9	133917103	Nonsense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08		133917103	7296328	8	4338											
CDHR1	92211	broad.mit.edu	37	chr10	85972879	85972879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagaggaacccaacaaCctggtggactattccatcac	9	12	1	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr10:85972879C>T	uc001kcv.3	+	15	1920	c.1815C>T	c.(1813-1815)aaC>aaT	p.N605N	CDHR1_uc001kcw.3_Silent_p.N605N|CDHR1_uc009xst.3_Silent_p.N309N|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	605	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AACCCAACAACCTGGTGGACT	0.557													60	59					0	0	1	0	0	T	85972879	C	T	85972879	2	4	249	1	0	0	0	0	0	0	0	1	3118	506	18	2		2	CDHR1	10	85972879	Silent	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08		85972879	49561868	9	4339											
KCNA4	3739	broad.mit.edu	37	chr11	30033056	30033056	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttggctgggacaagcaaaGcagcgaaccacaaactcaaa	10	11	1	0			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:30033056G>T	uc001msk.3	-	1	2411	c.1170C>A	c.(1168-1170)tgC>tgA	p.C390*	KCNA4_uc021qfi.1_Nonsense_Mutation_p.C390*	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	390						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GACAAGCAAAGCAGCGAACCA	0.448													47	73					0	0	1	0	0	T	30033056	G	T	30033056	4	4	249	1	0	0	0	0	0	1	0	0	8005	963	34	4	795	4	KCNA4	11	30033056	Nonsense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08		30033056	104973460	10	4340											
FAT3	120114	broad.mit.edu	37	chr11	92577600	92577600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcctgcgcatcatcagCatccagcccgtggcaggcac	11	16	2	0			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:92577600C>T	uc001pdj.4	+	17	11084	c.11067C>T	c.(11065-11067)agC>agT	p.S3689S	FAT3_uc001pdi.4_Silent_p.S129S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3689					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCATCAGCATCCAGCCCG	0.602										TCGA Ovarian(4;0.039)			16	24					0	0	1	0	0	T	92577600	C	T	92577600	2	4	249	1	0	0	0	0	0	0	0	1	5691	709	25	2		2	FAT3	11	92577600	Silent	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	62544544	92577600	42428916	11	4341											
C11orf87	399947	broad.mit.edu	37	chr11	109294829	109294829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgtcccctggcctccCgtgccagggtccctgtgctc	10	19	1	0			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:109294829C>T	uc010rwb.2	+	1	873	c.470C>T	c.(469-471)cCg>cTg	p.P157L	C11orf87_uc021qqf.1_Missense_Mutation_p.P157L	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.	157						integral to membrane		p.P157R(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGGCCTCCCGTGCCAGGGT	0.672													48	55					0	0	1	0	0	T	109294829	C	T	109294829	3	4	249	1	0	0	0	0	1	0	0	0	1669	652	23	1	472	1	C11orf87	11	109294829	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	16717229	109294829	25711687	12	4342											
PSMA6	5687	broad.mit.edu	37	chr14	35761712	35761712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttccagcgccggttttgaCcgccacattaccattttttc	8	13	0	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr14:35761712C>A	uc001wtd.3	+	0	139	c.30C>A	c.(28-30)gaC>gaA	p.D10E	KIAA0391_uc001wta.3_Intron|PSMA6_uc010tpt.2_5'UTR|PSMA6_uc010tpu.2_5'UTR	NM_002791	NP_002782	P60900	PSA6_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA.	10					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CCGGTTTTGACCGCCACATTA	0.562													9	115					0	0	1	0	0	A	35761712	C	A	35761712	3	1	249	1	0	0	0	0	1	0	0	0	12671	506	18	4	32	4	PSMA6	14	35761712	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08		35761712	71587828	13	4343											
GRAMD2	196996	broad.mit.edu	37	chr15	72457708	72457708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaccagagactcaggtTcccctgaaaattctcttaca	5	14	3	2			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr15:72457708T>G	uc002atq.3	-	7	611	c.587A>C	c.(586-588)gAa>gCa	p.E196A	GRAMD2_uc010bis.2_Missense_Mutation_p.E196A|GRAMD2_uc010ukh.2_5'Flank	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	196						integral to membrane		p.G195V(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AGACTCAGGTTCCCCTGAAAA	0.552													7	118					0	0	1	0	0	G	72457708	T	G	72457708	3	3	249	1	0	0	0	0	1	0	0	0	6750	1783	62	5	497	5	GRAMD2	15	72457708	Missense_Mutation	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		72457708	30073684	14	4344											
ADCY9	115	broad.mit.edu	37	chr16	4164144	4164144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgattttctcacactTggtctcctcacacaggcggt	10	12	3	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr16:4164144T>G	uc002cvx.3	-	1	1839	c.1300A>C	c.(1300-1302)Aag>Cag	p.K434Q		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	434	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTCACACTTGGTCTCCTCA	0.612													6	136					0	0	1	0	0	G	4164144	T	G	4164144	3	3	249	1	0	0	0	0	1	0	0	0	301	1821	63	5	2801	5	ADCY9	16	4164144	Missense_Mutation	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		4164144	86190609	15	4345											
GAS8	2622	broad.mit.edu	37	chr16	90103675	90103675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcggaagaaggaggaccaCctggagagggagatggcaga	18	6	0	4			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr16:90103675C>T	uc002fqi.1	+	6	914	c.792C>T	c.(790-792)caC>caT	p.H264H	GAS8_uc010vps.1_Silent_p.H239H|GAS8_uc002fqh.2_Silent_p.H181H|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_3'UTR|GAS8_uc010vpv.1_Silent_p.H235H|GAS8_uc010cjc.1_Silent_p.H181H|GAS8_uc010vpw.1_Silent_p.H181H|GAS8_uc002fqj.1_Silent_p.H72H	NM_001481	NP_001472	O95995	GAS8_HUMAN	Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.	264					negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGGAGGACCACCTGGAGAGGG	0.627													4	21					0	0	1	0	0	T	90103675	C	T	90103675	2	4	249	1	0	0	0	0	0	0	0	1	6251	506	18	2		2	GAS8	16	90103675	Silent	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	85939531	90103675	251078	16	4346											
ARVCF	421	broad.mit.edu	37	chr22	19969230	19969230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcacctggcgtactgtccGagtggtcaccgtcttgacag	14	12	2	1			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:19969230G>A	uc002zqz.3	-	4	670	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ARVCF_uc002zqy.3_5'Flank	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	134					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGTACTGTCCGAGTGGTCACC	0.622													38	58					0	0	1	0	0	A	19969230	G	A	19969230	3	1	249	1	0	0	0	0	1	0	0	0	1003	1057	37	1	2548	1	ARVCF	22	19969230	Missense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08		19969230	31335336	17	4347											
SF3A1	10291	broad.mit.edu	37	chr22	30734812	30734812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgaagtgatgggtggaGccgagctggggatgttggtg	20	5	0	2			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:30734812G>A	uc003ahl.3	-	10	1841	c.1709C>T	c.(1708-1710)gCt>gTt	p.A570V	SF3A1_uc021wnt.1_Missense_Mutation_p.A505V	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	570					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GATGGGTGGAGCCGAGCTGGG	0.542													95	102					0	0	1	0	0	A	30734812	G	A	30734812	3	1	249	1	0	0	0	0	1	0	0	0	14146	971	34	2	696	2	SF3A1	22	30734812	Missense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08	10765582	30734812	20569754	18	4348											
RIMS3	9783	broad.mit.edu	37	chr1	41098767	41098767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtgttgccagtgtctgtCgccccacaatctgagctggt	13	11	2	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:41098767C>T	uc001cfu.1	-	4	911	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	RIMS3_uc001cfv.1_Missense_Mutation_p.R149Q	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	149					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CAGTGTCTGTCGCCCCACAAT	0.592													76	69					0	0	1	0	0	T	41098767	C	T	41098767	3	4	250	1	0	0	0	0	1	0	0	0	13369	884	31	1	496	1	RIMS3	1	41098767	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		41098767	208151854	1	4349											
VCAM1	7412	broad.mit.edu	37	chr1	101188796	101188796	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctttactcctgtcattgaGgatattggaaaagttcttgt	8	7	2	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:101188796G>T	uc001dti.3	+	2	782	c.561G>T	c.(559-561)gaG>gaT	p.E187D	VCAM1_uc010ouj.2_Missense_Mutation_p.E125D|VCAM1_uc001dtj.3_Missense_Mutation_p.E187D	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	187	Ig-like C2-type 2.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGTCATTGAGGATATTGGAA	0.418													19	13					0	0	1	0	0	T	101188796	G	T	101188796	3	4	250	1	0	0	0	0	1	0	0	0	17134	991	35	4	571	4	VCAM1	1	101188796	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08	60090029	101188796	148061825	2	4350											
CEPT1	10390	broad.mit.edu	37	chr1	111690383	111690383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtggagattctcaccCggagtccccagtgggcttcg	13	11	1	2			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:111690383C>T	uc001eah.1	+	1	255	c.47C>T	c.(46-48)cCg>cTg	p.P16L	CEPT1_uc001eag.3_Missense_Mutation_p.P16L|CEPT1_uc001eai.1_Missense_Mutation_p.P16L|CEPT1_uc001eaj.1_Missense_Mutation_p.P16L	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	16						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GATTCTCACCCGGAGTCCCCA	0.393													5	45					0	0	1	0	0	T	111690383	C	T	111690383	3	4	250	1	0	0	0	0	1	0	0	0	3264	652	23	1	49	1	CEPT1	1	111690383	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08	10501587	111690383	137560238	3	4351											
TSNAX	7257	broad.mit.edu	37	chr1	231696959	231696959	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggatgaaattaataaacaAttgatatttacgactgaaga	7	3	0	4			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:231696959A>G	uc001huw.3	+	4	611	c.453A>G	c.(451-453)caA>caG	p.Q151Q	DISC1_uc010pwe.2_5'UTR|DISC1_uc010pwf.2_Intron|DISC1_uc010pwj.1_5'UTR|DISC1_uc010pwk.1_5'UTR|DISC1_uc010pwg.1_Intron|DISC1_uc010pwh.1_5'UTR|DISC1_uc010pwi.1_5'UTR|DISC1_uc010pwl.2_Intron	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	Homo sapiens translin-associated factor X (TSNAX), mRNA.	151	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TTAATAAACAATTGATATTTA	0.289													13	30					0	0	1	0	0	G	231696959	A	G	231696959	2	3	250	1	0	0	0	0	0	0	0	1	16628	98	4	3		3	TSNAX	1	231696959	Silent	SNP	A	TCGA-EM-A2CO-01A-11D-A19J-08	120006576	231696959	17553662	4	4352											
NEB	4703	broad.mit.edu	37	chr2	152390825	152390825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctcataatcagctctGtattttttctgctcaaacat	5	11	5	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr2:152390825G>A	uc002txu.3	-	142	21524	c.21321C>T	c.(21319-21321)taC>taT	p.Y7107Y	NEB_uc002txr.3_Silent_p.Y1872Y|NEB_uc021vrb.1_Silent_p.Y5406Y|NEB_uc021vrc.1_Intron|NEB_uc010fnx.3_Silent_p.Y5394Y|NEB_uc021vrd.1_Silent_p.Y5406Y|NEB_uc002txt.4_5'Flank	NM_001164507	NP_001157979	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 1, mRNA.	5406					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATCAGCTCTGTATTTTTTCT	0.443													5	72					0	0	1	0	0	A	152390825	G	A	152390825	2	1	250	1	0	0	0	0	0	0	0	1	10302	1372	48	2		2	NEB	2	152390825	Silent	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		152390825	90808548	5	4353											
RTP1	132112	broad.mit.edu	37	chr3	186917353	186917353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggttccactgctcctGgtgctggcacacctggcagt	12	15	0	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr3:186917353G>T	uc003frg.3	+	1	317	c.287G>T	c.(286-288)tGg>tTg	p.W96L		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	96					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CACTGCTCCTGGTGCTGGCAC	0.652													53	50					0	0	1	0	0	T	186917353	G	T	186917353	3	4	250	1	0	0	0	0	1	0	0	0	13733	1357	47	4	293	4	RTP1	3	186917353	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		186917353	11105077	6	4354											
HELLS	3070	broad.mit.edu	37	chr10	96361328	96361328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaaagagaagatggggatAttcaagatattagaaaattc	9	2	1	4			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr10:96361328A>G	uc009xuo.3	+	22	2709	c.2604A>G	c.(2602-2604)atA>atG	p.I868M	HELLS_uc001kjs.3_Missense_Mutation_p.I806M|HELLS_uc001kjt.3_Missense_Mutation_p.I822M|HELLS_uc009xul.3_Missense_Mutation_p.I724M|HELLS_uc009xum.3_Missense_Mutation_p.I692M|HELLS_uc009xun.3_Missense_Mutation_p.I698M|HELLS_uc001kju.3_Missense_Mutation_p.I461M|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.I684M|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	822					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AGATGGGGATATTCAAGATAT	0.303													9	50					0	0	1	0	0	G	96361328	A	G	96361328	3	3	250	1	0	0	0	0	1	0	0	0	7046	439	16	3	2552	3	HELLS	10	96361328	Missense_Mutation	SNP	A	TCGA-EM-A2CO-01A-11D-A19J-08		96361328	39173419	7	4355											
MUC5B	727897	broad.mit.edu	37	chr11	1267146	1267146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggatccacggccatcccGtcctccaccccgggaacagc	9	19	0	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:1267146G>A	uc001lta.3	+	30	9095	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCATCCCGTCCTCCACCC	0.642													31	82					0	0	1	0	0	A	1267146	G	A	1267146	2	1	250	1	0	0	0	0	0	0	0	1	9979	1132	40	1		1	MUC5B	11	1267146	Silent	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		1267146	133739370	8	4356											
SLC25A45	283130	broad.mit.edu	37	chr11	65144072	65144072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgcatccgggacttgaTcatgtctaagggcgtggctg	13	10	3	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:65144072T>C	uc001odr.1	-	6	877	c.673A>G	c.(673-675)Atc>Gtc	p.I225V	SLC25A45_uc009yqi.1_Missense_Mutation_p.I163V|SLC25A45_uc001odq.1_Missense_Mutation_p.I201V|SLC25A45_uc001ods.1_Missense_Mutation_p.I183V|SLC25A45_uc001odt.1_Missense_Mutation_p.I183V	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	225					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CGGGACTTGATCATGTCTAAG	0.617													29	33					0	0	1	0	0	C	65144072	T	C	65144072	3	2	250	1	0	0	0	0	1	0	0	0	14510	1435	50	3	197	3	SLC25A45	11	65144072	Missense_Mutation	SNP	T	TCGA-EM-A2CO-01A-11D-A19J-08	63876926	65144072	69862444	9	4357											
PIH1D2	120379	broad.mit.edu	37	chr11	111942472	111942472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgataaaaagtatttttTcttttggtttctggaaagca	9	3	2	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:111942472T>C	uc001pmp.4	-	2	411	c.188A>G	c.(187-189)gAa>gGa	p.E63G	PIH1D2_uc009yyl.3_Missense_Mutation_p.E63G|PIH1D2_uc010rws.1_Missense_Mutation_p.E63G|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.4_5'Flank|C11orf57_uc001pmr.4_5'Flank|C11orf57_uc001pmt.4_5'Flank|C11orf57_uc001pmv.4_5'Flank|C11orf57_uc001pms.4_5'Flank	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.	63										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		AAGTATTTTTTCTTTTGGTTT	0.428													10	23					0	0	1	0	0	C	111942472	T	C	111942472	3	2	250	1	0	0	0	0	1	0	0	0	11907	1783	62	3	833	3	PIH1D2	11	111942472	Missense_Mutation	SNP	T	TCGA-EM-A2CO-01A-11D-A19J-08	46798400	111942472	23064044	10	4358											
PCID2	55795	broad.mit.edu	37	chr13	113854783	113854783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggatgtttaaaagacacCaactctgcacaagatgctcc	8	10	1	3			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr13:113854783C>A	uc021rmt.1	-	1	165	c.84G>T	c.(82-84)ttG>ttT	p.L28F	PCID2_uc021rmq.1_Missense_Mutation_p.L28F|PCID2_uc021rmr.1_Missense_Mutation_p.L28F|PCID2_uc021rms.1_Missense_Mutation_p.L28F|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	28					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TAAAAGACACCAACTCTGCAC	0.423													5	63					0	0	1	0	0	A	113854783	C	A	113854783	3	1	250	1	0	0	0	0	1	0	0	0	11579	593	21	4	1167	4	PCID2	13	113854783	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		113854783	1315095	11	4359											
AXIN1	8312	broad.mit.edu	37	chr16	354424	354424	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctccacgcggacctccttCggcacccggtacgtgcgctg	13	17	0	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr16:354424C>T	uc002cgp.2	-	4	1523	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.P378P	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	378	Interaction with GSK3B (By similarity).				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.P378L(1)|p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGACCTCCTTCGGCACCCGGT	0.627													3	37					0	0	1	0	0	T	354424	C	T	354424	2	4	250	1	0	0	0	0	0	0	0	1	1236	871	31	1		1	AXIN1	16	354424	Silent	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		354424	90000329	12	4360											
P4HB	5034	broad.mit.edu	37	chr17	79813410	79813410	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcagggtggtggcagcCgggcccgtgcgcttcttcag	17	12	3	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr17:79813410C>A	uc002kbn.1	-	2	602	c.405G>T	c.(403-405)ccG>ccT	p.P135P	P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	135					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TGGTGGCAGCCGGGCCCGTGC	0.592													3	50					0	0	1	0	0	A	79813410	C	A	79813410	2	1	250	1	0	0	0	0	0	0	0	1	11359	639	23	4		4	P4HB	17	79813410	Silent	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		79813410	1381800	13	4361											
ZNF407	55628	broad.mit.edu	37	chr18	72775591	72775592	+	Frame_Shift_Ins	INS	-	-	T													acaggtgaccaagcaggagaINSttttaaacctctcggaggct							TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr18:72775591_72775592insT	uc002llw.2	+	7	5967_5968	c.5914_5915insT	c.(5914-5916)attfs	p.I1972fs		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGCAGGAGATTTTAAACCTC	0.614													6	7	---	---	---	---						T	72775592	-	T	72775591	7	5	250	1	0	1	1	0	0	0	0	0	17884	333	12	0	6074	0	ZNF407	18	72775591	Frame_Shift_Ins	INS	-	TCGA-EM-A2CO-01A-11D-A19J-08		72775591	5301657	14	4362											
CCDC155	147872	broad.mit.edu	37	chr19	49920492	49920492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcaggaggagggcctggGgccagctctgcctgccccca	15	15	2	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr19:49920492G>A	uc002pnm.2	+	18	1721	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S	CCDC155_uc010emx.2_Missense_Mutation_p.G477S	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	506						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GAGGGCCTGGGGCCAGCTCTG	0.652													7	15					0	0	1	0	0	A	49920492	G	A	49920492	3	1	250	1	0	0	0	0	1	0	0	0	2788	1232	43	2	1586	2	CCDC155	19	49920492	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		49920492	9208491	15	4363											
ANKRD5	63926	broad.mit.edu	37	chr20	10023795	10023795	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgttttactgcattttaccGactaagcggcattatcgctg	8	9	0	0			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr20:10023795G>A	uc002wno.3	+	3	765	c.372G>A	c.(370-372)ccG>ccA	p.P124P	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.P124P|ANKRD5_uc010gbz.3_5'UTR	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	124							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GCATTTTACCGACTAAGCGGC	0.378													23	44					0	0	1	0	0	A	10023795	G	A	10023795	2	1	250	1	0	0	0	0	0	0	0	1	676	1045	37	1		1	ANKRD5	20	10023795	Silent	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		10023795	53001725	16	4364											
FAM83F	113828	broad.mit.edu	37	chr22	40417409	40417409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgccatctccgaggaggtgGacttgtaccggcagctgagc	14	12	1	1			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr22:40417409G>A	uc003ayk.1	+	3	989	c.895G>A	c.(895-897)Gac>Aac	p.D299N		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	299										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CGAGGAGGTGGACTTGTACCG	0.592													13	116					0	0	1	0	0	A	40417409	G	A	40417409	3	1	250	1	0	0	0	0	1	0	0	0	5638	1174	41	2	909	2	FAM83F	22	40417409	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		40417409	10887157	17	4365											
STK36	27148	broad.mit.edu	37	chr2	219561866	219561866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccccgaggaggcatctgcAcaggaaggggagctttcgct	14	12	1	0			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr2:219561866A>G	uc002viu.3	+	22	2970	c.2691A>G	c.(2689-2691)gcA>gcG	p.A897A	STK36_uc002viv.3_Silent_p.A876A|STK36_uc002vix.3_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	897					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGGCATCTGCACAGGAAGGGG	0.537													5	235					0	0	1	0	0	G	219561866	A	G	219561866	2	3	251	1	0	0	0	0	0	0	0	1	15301	146	6	3		3	STK36	2	219561866	Silent	SNP	A	TCGA-EM-A2CP-01A-11D-A17V-08		219561866	23637507	1	4366											
PRUNE2	158471	broad.mit.edu	37	chr9	79322343	79322343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaaatgtaggagttttgCgatcaaagctcttttcaaac	7	7	3	0			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr9:79322343C>T	uc010mpk.3	-	7	4971	c.4847G>A	c.(4846-4848)cGc>cAc	p.R1616H	PRUNE2_uc022bih.1_Missense_Mutation_p.R1438H	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1616					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGAGTTTTGCGATCAAAGCT	0.353													4	56					0	0	1	0	0	T	79322343	C	T	79322343	3	4	251	1	0	0	0	0	1	0	0	0	12641	768	27	1	4467	1	PRUNE2	9	79322343	Missense_Mutation	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08		79322343	61891088	2	4367											
C11orf2	738	broad.mit.edu	37	chr11	64878010	64878010	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagagcagcgactccagcaaGaggactttctccgtgtacag	11	12	1	2			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr11:64878010G>C	uc001ocr.1	+	7	1975	c.1935G>C	c.(1933-1935)aaG>aaC	p.K645N	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.K521N	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	645					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						ACTCCAGCAAGAGGACTTTCT	0.637											OREG0021071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	193					0	0	1	0	0	C	64878010	G	C	64878010	3	2	251	1	0	0	0	0	1	0	0	0	1633	933	33	4	1965	4	C11orf2	11	64878010	Missense_Mutation	SNP	G	TCGA-EM-A2CP-01A-11D-A17V-08		64878010	70128506	3	4368											
LRRC32	2615	broad.mit.edu	37	chr11	76371702	76371702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagagctgggaaagggggCggccgctggcattcccgctg	17	11	1	1			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr11:76371702C>T	uc001oxq.4	-	2	1178	c.935G>A	c.(934-936)cGc>cAc	p.R312H	LRRC32_uc001oxr.4_Missense_Mutation_p.R312H|LRRC32_uc010rsf.2_Missense_Mutation_p.R312H	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	312						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGAAAGGGGGCGGCCGCTGGC	0.622													7	44					0	0	1	0	0	T	76371702	C	T	76371702	3	4	251	1	0	0	0	0	1	0	0	0	8987	768	27	1	1057	1	LRRC32	11	76371702	Missense_Mutation	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08	11493692	76371702	58634814	4	4369											
C22orf31	25770	broad.mit.edu	37	chr22	29456530	29456530	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccttgtgctttaatctcttcGagagttttccttctccaaac	5	12	2	1			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr22:29456530G>C	uc003aej.1	-	1	432	c.305C>G	c.(304-306)tCg>tGg	p.S102W		NM_015370	NP_056185	O95567	CV031_HUMAN	Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA.	102										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TAATCTCTTCGAGAGTTTTCC	0.483													3	141					0	0	1	0	0	C	29456530	G	C	29456530	3	2	251	1	0	0	0	0	1	0	0	0	2143	1059	37	4	575	4	C22orf31	22	29456530	Missense_Mutation	SNP	G	TCGA-EM-A2CP-01A-11D-A17V-08		29456530	21848036	5	4370											
MAGED2	10916	broad.mit.edu	37	chrX	54841696	54841696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaggtacaaaagaaggatCccaaggaatgggcagctcag	12	8	2	1			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chrX:54841696C>T	uc004dtk.1	+	11	1496	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	MAGED2_uc004dtl.1_Missense_Mutation_p.P468S|MAGED2_uc004dtm.1_Missense_Mutation_p.P383S|MAGED2_uc004dtn.1_Missense_Mutation_p.P468S|MAGED2_uc004dto.1_Missense_Mutation_p.P442S	NM_177433	NP_957516	Q9UNF1	MAGD2_HUMAN	Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.	468	MAGE.							p.P468S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AAAGAAGGATCCCAAGGAATG	0.458													4	70					0	0	1	0	0	T	54841696	C	T	54841696	3	4	251	1	0	0	0	0	1	0	0	0	9184	855	30	2	1444	2	MAGED2	23	54841696	Missense_Mutation	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08		54841696	100428864	6	4371											
PRRG3	79057	broad.mit.edu	37	chrX	150869382	150869382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccagcaccacccctccCccctcctacgaggaggtgac	8	20	0	1			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chrX:150869382C>T	uc022cgt.1	+	3	622	c.573C>T	c.(571-573)ccC>ccT	p.P191P	PRRG3_uc004few.2_Silent_p.P191P	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	191						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCCTCCCCCCTCCTACG	0.647													4	63					0	0	1	0	0	T	150869382	C	T	150869382	2	4	251	1	0	0	0	0	0	0	0	1	12607	610	22	2		2	PRRG3	23	150869382	Silent	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08	96027686	150869382	4401178	7	4372											
TET3	200424	broad.mit.edu	37	chr2	74300714	74300714	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaaggtccatattatactCacttgggatctggccccacg	9	11	2	1			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr2:74300714C>T	uc002skb.4	+	1	2128	c.2128C>T	c.(2128-2130)Cac>Tac	p.H710Y	TET3_uc010fez.2_Missense_Mutation_p.H710Y	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	710							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATATTATACTCACTTGGGATC	0.413													3	24					0	0	1	0	0	T	74300714	C	T	74300714	3	4	252	1	0	0	0	0	1	0	0	0	15768	826	29	2	2134	2	TET3	2	74300714	Missense_Mutation	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		74300714	168898659	1	4373											
TRNT1	51095	broad.mit.edu	37	chr3	3189629	3189629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactcgtgtatgtgaactaCtgaagtaccaaggagagcac	10	9	0	3			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr3:3189629C>T	uc003bpp.4	+	7	1198	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	TRNT1_uc010hbv.3_Silent_p.L346L|TRNT1_uc003bpm.2_Non-coding_Transcript	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA.	366					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ATGTGAACTACTGAAGTACCA	0.418													21	60					0	0	1	0	0	T	3189629	C	T	3189629	2	4	252	1	0	0	0	0	0	0	0	1	16570	564	20	2		2	TRNT1	3	3189629	Silent	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		3189629	194832801	2	4374											
ROBO2	6092	broad.mit.edu	37	chr3	77626739	77626739	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcctcctccagatcacCagaatggaattatccaagaa	5	13	1	3			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr3:77626739C>T	uc003dpz.3	+	15	2957	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	ROBO2_uc021xat.1_Nonsense_Mutation_p.Q784*|ROBO2_uc003dpy.4_Nonsense_Mutation_p.Q768*|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc011bgk.2_Nonsense_Mutation_p.Q772*	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	768	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCAGATCACCAGAATGGAAT	0.483													3	51					0	0	1	0	0	T	77626739	C	T	77626739	4	4	252	1	0	0	0	0	0	1	0	0	13514	595	21	2	2362	2	ROBO2	3	77626739	Nonsense_Mutation	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08	74437110	77626739	120395691	3	4375											
TNXB	7148	broad.mit.edu	37	chr6	32037914	32037914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccctcacccgtggtgccGtcggcagtgagagggccatg	15	14	1	1			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr6:32037914G>A	uc003nzl.2	-	13	5470	c.5268C>T	c.(5266-5268)gaC>gaT	p.D1756D		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1838	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTGGTGCCGTCGGCAGTGA	0.617													4	14					0	0	1	0	0	A	32037914	G	A	32037914	2	1	252	1	0	0	0	0	0	0	0	1	16343	1136	40	1		1	TNXB	6	32037914	Silent	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08		32037914	139077153	4	4376											
NPC1L1	29881	broad.mit.edu	37	chr7	44578614	44578614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggagatgttgcgctgtGcttcgggcgaccatacctgg	16	10	0	1			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr7:44578614G>T	uc003tlb.3	-	1	1438	c.1382C>A	c.(1381-1383)gCa>gAa	p.A461E	NPC1L1_uc011kbw.2_Missense_Mutation_p.A461E|NPC1L1_uc003tlc.3_Missense_Mutation_p.A461E|NPC1L1_uc003tld.3_Missense_Mutation_p.A461E	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	461					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTTGCGCTGTGCTTCGGGCGA	0.592													7	42					0	0	1	0	0	T	44578614	G	T	44578614	3	4	252	1	0	0	0	0	1	0	0	0	10571	1319	46	4	2773	4	NPC1L1	7	44578614	Missense_Mutation	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08		44578614	114560049	5	4377											
MGAM	8972	broad.mit.edu	37	chr7	141758106	141758106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcttgtatgatgagaTggtggctgcccagatccctt	12	11	0	3			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr7:141758106T>C	uc003vwy.3	+	30	3851	c.3797T>C	c.(3796-3798)aTg>aCg	p.M1266T		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1266	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGATGAGATGGTGGCTGCC	0.498													91	217					0	0	1	0	0	C	141758106	T	C	141758106	3	2	252	1	0	0	0	0	1	0	0	0	9541	1464	51	3	3915	3	MGAM	7	141758106	Missense_Mutation	SNP	T	TCGA-EM-A2CQ-01A-11D-A17V-08	97179492	141758106	17380557	6	4378											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			7	10					0	0	1	0	0	A	25398284	C	A	25398284	3	1	252	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		25398284	108453611	7	4379											
ELF4	2000	broad.mit.edu	37	chrX	129200994	129200994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaggagctccctcaggGtctcttcaggaaccagcagc	10	15	4	0			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chrX:129200994G>T	uc004evd.4	-	8	2079	c.1694C>A	c.(1693-1695)aCc>aAc	p.T565N	ELF4_uc004eve.4_Missense_Mutation_p.T565N	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	565					NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTCCCTCAGGGTCTCTTCAGG	0.612			T	ERG	AML								41	111					0	0	1	0	0	T	129200994	G	T	129200994	3	4	252	1	0	0	0	0	1	0	0	0	5056	1261	44	4	301	4	ELF4	23	129200994	Missense_Mutation	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08		129200994	26069566	8	4380											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			62	104					0	0	1	0	0	C	115256529	T	C	115256529	3	2	253	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A2CR-01A-11D-A17V-08		115256529	133994092	1	4381											
TMEM37	140738	broad.mit.edu	37	chr2	120194901	120194901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctcctcaggaaccaagTcacactcatcggcttcaccc	6	17	4	0			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr2:120194901T>C	uc002tly.3	+	1	492	c.458T>C	c.(457-459)gTc>gCc	p.V153A		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	153						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGGAACCAAGTCACACTCATC	0.552													7	363					0	0	1	0	0	C	120194901	T	C	120194901	3	2	253	1	0	0	0	0	1	0	0	0	16155	1667	58	3	464	3	TMEM37	2	120194901	Missense_Mutation	SNP	T	TCGA-EM-A2CR-01A-11D-A17V-08		120194901	123004472	2	4382											
MCF2L2	23101	broad.mit.edu	37	chr3	183041038	183041038	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagtgcggtgatttacCcactgaccgtggcgatattc	10	12	1	2			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr3:183041038C>T	uc003fli.1	-	5	678	c.588G>A	c.(586-588)tgG>tgA	p.W196*	MCF2L2_uc003flj.1_Nonsense_Mutation_p.W196*|MCF2L2_uc003flp.1_Nonsense_Mutation_p.W231*	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	196					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGTGATTTACCCACTGACCGT	0.502													4	96					0	0	1	0	0	T	183041038	C	T	183041038	4	4	253	1	0	0	0	0	0	1	0	0	9380	624	22	2	2856	2	MCF2L2	3	183041038	Nonsense_Mutation	SNP	C	TCGA-EM-A2CR-01A-11D-A17V-08		183041038	14981392	3	4383											
CHRNA9	55584	broad.mit.edu	37	chr4	40351126	40351126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagatctctctgacttcaTtgaagatgtggaatgggagg	14	6	3	4			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr4:40351126T>C	uc003gva.1	+	3	609	c.593T>C	c.(592-594)aTt>aCt	p.I198T		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	198					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.F197F(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCTGACTTCATTGAAGATGTG	0.517													6	191					0	0	1	0	0	C	40351126	T	C	40351126	3	2	253	1	0	0	0	0	1	0	0	0	3389	1493	52	3	607	3	CHRNA9	4	40351126	Missense_Mutation	SNP	T	TCGA-EM-A2CR-01A-11D-A17V-08		40351126	150803150	4	4384											
CXCL13	10563	broad.mit.edu	37	chr4	78532142	78532142	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtttctgcttcacagAagaagttcttcaactctacc	5	10	5	2			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr4:78532142A>T	uc003hkr.3	+	5	357	c.279_splice	c.e5-1	p.K93_splice		NM_006419	NP_006410	O43927	CXL13_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 13 (CXCL13), mRNA.	93					B cell chemotaxis|activation of Rap GTPase activity|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of T cell chemotaxis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|chemokine activity|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TGCTTCACAGAAGAAGTTCTT	0.408													46	74					0	0	1	0	0	T	78532142	A	T	78532142	5	4	253	1	0	0	0	0	0	0	1	0	4081	260	9	5	293	5	CXCL13	4	78532142	Splice_Site	SNP	A	TCGA-EM-A2CR-01A-11D-A17V-08	38181016	78532142	112622134	5	4385											
PRB2	653247	broad.mit.edu	37	chr12	11546273	11546273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggttgcctccttgtgGgggtggtccttgtggctttc	17	9	0	0			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr12:11546273G>A	uc010shk.1	-	2	774	c.739C>T	c.(739-741)Cca>Tca	p.P247S		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.P247Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGGTGGTCCT	0.617													110	174					0	0	1	0	0	A	11546273	G	A	11546273	3	1	253	1	0	0	0	0	1	0	0	0	12443	1232	43	2	515	2	PRB2	12	11546273	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		11546273	122305622	6	4386											
NEK8	284086	broad.mit.edu	37	chr17	27061954	27061954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcctgcttgacaaacacCgcatggtcgtcaagatcggt	9	12	1	2			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:27061954C>T	uc002hcp.3	+	2	418	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	140	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R140S(2)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGACAAACACCGCATGGTCGT	0.562													68	114					0	0	1	0	0	T	27061954	C	T	27061954	3	4	253	1	0	0	0	0	1	0	0	0	10330	652	23	1	428	1	NEK8	17	27061954	Missense_Mutation	SNP	C	TCGA-EM-A2CR-01A-11D-A17V-08		27061954	54133256	7	4387											
RAB37	326624	broad.mit.edu	37	chr17	72725494	72725494	+	Frame_Shift_Del	DEL	A	A	-													ccttctcggccactgtgggcAtcggattcacggtaagcact							TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:72725494delA	uc010dfu.3	+	1	642	c.172delA	c.(172-174)atcfs	p.I58fs	RAB37_uc002jlc.2_Frame_Shift_Del_p.I58fs|RAB37_uc002jld.2_Frame_Shift_Del_p.I58fs	NM_175738	NP_783865	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 3, mRNA.	65					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	p.I58I(1)|p.I58M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CACTGTGGGCATCGGATTCAC	0.607													60	100	---	---	---	---						-	72725494	A	-	72725494	7	5	253	1	0	1	0	1	0	0	0	0	12927	217	8	0	178	0	RAB37	17	72725494	Frame_Shift_Del	DEL	A	TCGA-EM-A2CR-01A-11D-A17V-08	45663540	72725494	8469716	8	4388											
MUC16	94025	broad.mit.edu	37	chr19	9084433	9084433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctaatagggccgagcttGtctcgacagggtgggtgatt	16	7	1	1			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr19:9084433G>T	uc002mkp.3	-	0	7586	c.7382C>A	c.(7381-7383)aCa>aAa	p.T2461K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2461	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCGAGCTTGTCTCGACAGG	0.507													13	38					0	0	1	0	0	T	9084433	G	T	9084433	3	4	253	1	0	0	0	0	1	0	0	0	9973	1377	48	4	36477	4	MUC16	19	9084433	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		9084433	50044550	9	4389											
ZNF155	7711	broad.mit.edu	37	chr19	44500960	44500960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggagaaaaaccatttagGtgtgatacatgtgataagag	11	4	0	4			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr19:44500960G>A	uc010xwt.1	+	5	1168	c.984G>A	c.(982-984)agG>agA	p.R328R	ZNF155_uc002oxy.1_Silent_p.R317R|ZNF155_uc002oxz.1_Silent_p.R317R	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	317						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AACCATTTAGGTGTGATACAT	0.413													5	104					0	0	1	0	0	A	44500960	G	A	44500960	2	1	253	1	0	0	0	0	0	0	0	1	17733	1252	44	2		2	ZNF155	19	44500960	Silent	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08	35416527	44500960	14628023	10	4390											
SIRPB1	10326	broad.mit.edu	37	chr20	1551539	1551539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgctgcccatcatgctcCacctgacaggtgagcaccac	9	16	1	2			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr20:1551539C>T	uc010gai.3	-	3	1095	c.996G>A	c.(994-996)gtG>gtA	p.V332V	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	332	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CATCATGCTCCACCTGACAGG	0.562													55	96					0	0	1	0	0	T	1551539	C	T	1551539	2	4	253	1	0	0	0	0	0	0	0	1	14333	581	21	2		2	SIRPB1	20	1551539	Silent	SNP	C	TCGA-EM-A2CR-01A-11D-A17V-08		1551539	61473981	11	4391											
DGCR8	54487	broad.mit.edu	37	chr22	20079439	20079439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggtctgcatcctgcacGagtacatgcagcgtgtcctc	11	14	1	0			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr22:20079439G>A	uc002zri.3	+	6	1981	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	DGCR8_uc010grz.3_Missense_Mutation_p.E518K|DGCR8_uc002zrj.3_Missense_Mutation_p.E161K	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	518	DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATCCTGCACGAGTACATGCA	0.463													26	8					0	0	1	0	0	A	20079439	G	A	20079439	3	1	253	1	0	0	0	0	1	0	0	0	4464	1059	37	1	1574	1	DGCR8	22	20079439	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		20079439	31225127	12	4392											
MAGEC2	51438	broad.mit.edu	37	chrX	141291129	141291129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatcactaccctcatcGgtgaggcctactgtgtttgc	8	13	4	1			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chrX:141291129G>A	uc004fbu.2	-	2	993	c.645C>T	c.(643-645)acC>acT	p.T215T	MAGEC2_uc022cfj.1_Silent_p.T215T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	215	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TACCCTCATCGGTGAGGCCTA	0.507										HNSCC(46;0.14)			84	133					0	0	1	0	0	A	141291129	G	A	141291129	2	1	253	1	0	0	0	0	0	0	0	1	9181	1103	39	1		1	MAGEC2	23	141291129	Silent	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		141291129	13979431	13	4393											
TP73	7161	broad.mit.edu	37	chr1	3599677	3599677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagccgggggaataatgAggtggtgggcggaacggatt	19	5	1	1			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr1:3599677A>G	uc001akp.3	+	2	229	c.119A>G	c.(118-120)gAg>gGg	p.E40G	TP73_uc021ofb.1_Missense_Mutation_p.E40G|TP73_uc021ofc.1_Missense_Mutation_p.E40G|TP73_uc021ofd.1_Missense_Mutation_p.E40G|TP73_uc021ofe.1_Missense_Mutation_p.E40G|TP73_uc021off.1_Missense_Mutation_p.E40G	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	40	Asp/Glu-rich (acidic).|Transactivation (By similarity).				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGGAATAATGAGGTGGTGGGC	0.587													3	115					0	0	1	0	0	G	3599677	A	G	3599677	3	3	254	1	0	0	0	0	1	0	0	0	16390	304	11	3	125	3	TP73	1	3599677	Missense_Mutation	SNP	A	TCGA-EM-A2CT-01A-11D-A17V-08		3599677	245650944	1	4394											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			55	105					0	0	1	0	0	C	115256529	T	C	115256529	3	2	254	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A2CT-01A-11D-A17V-08	111656852	115256529	133994092	2	4395											
SLC9A4	389015	broad.mit.edu	37	chr2	103141530	103141530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaccccaaacaagtgagaaGcaggctaaagagattctgat	9	8	1	3			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr2:103141530G>T	uc002tbz.4	+	9	2323	c.1866G>T	c.(1864-1866)aaG>aaT	p.K622N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	622					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAGTGAGAAGCAGGCTAAAG	0.498													8	209					0	0	1	0	0	T	103141530	G	T	103141530	3	4	254	1	0	0	0	0	1	0	0	0	14716	962	34	4	1904	4	SLC9A4	2	103141530	Missense_Mutation	SNP	G	TCGA-EM-A2CT-01A-11D-A17V-08		103141530	140057843	3	4396											
IRS1	3667	broad.mit.edu	37	chr2	227661463	227661463	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagccaccgctgggggacatCatcatgtagccattggggtc	13	12	2	0			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr2:227661463C>A	uc002voh.4	-	0	2044	c.1992G>T	c.(1990-1992)atG>atT	p.M664I	IRS1_uc021vxn.1_Missense_Mutation_p.M664I	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	664					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGGGGGACATCATCATGTAGC	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	97					0	0	1	0	0	A	227661463	C	A	227661463	3	1	254	1	0	0	0	0	1	0	0	0	7840	826	29	4	1740	4	IRS1	2	227661463	Missense_Mutation	SNP	C	TCGA-EM-A2CT-01A-11D-A17V-08	124519933	227661463	15537910	4	4397											
NGEF	25791	broad.mit.edu	37	chr2	233744290	233744290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacacggaaacattccttgAggttctgggaccggatcttg	13	9	2	1			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr2:233744290A>G	uc002vts.2	-	14	2290	c.2042T>C	c.(2041-2043)cTc>cCc	p.L681P	NGEF_uc010zmm.1_Missense_Mutation_p.L404P|NGEF_uc010fyg.1_Missense_Mutation_p.L589P	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	681					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACATTCCTTGAGGTTCTGGGA	0.592													4	113					0	0	1	0	0	G	233744290	A	G	233744290	3	3	254	1	0	0	0	0	1	0	0	0	10394	304	11	3	94	3	NGEF	2	233744290	Missense_Mutation	SNP	A	TCGA-EM-A2CT-01A-11D-A17V-08	6082827	233744290	9455083	5	4398											
OSMR	9180	broad.mit.edu	37	chr5	38925336	38925336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttgcaaatacaaaattgAcaacccggaagaaaaggcat	8	7	0	2			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr5:38925336A>G	uc003jln.2	+	14	2477	c.2075A>G	c.(2074-2076)gAc>gGc	p.D692G	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	692	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TACAAAATTGACAACCCGGAA	0.348													3	82					0	0	1	0	0	G	38925336	A	G	38925336	3	3	254	1	0	0	0	0	1	0	0	0	11292	275	10	3	2167	3	OSMR	5	38925336	Missense_Mutation	SNP	A	TCGA-EM-A2CT-01A-11D-A17V-08		38925336	141989924	6	4399											
SYNJ2	8871	broad.mit.edu	37	chr6	158505093	158505094	+	Missense_Mutation	DNP	CG	CG	AT													attcaatcagcctggagtctCggacagtgaactcgggggag							TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr6:158505093_158505094CG>AT	uc003qqx.2	+	21	3201_3202	c.3095_3096CG>AT	c.(3094-3096)tcg>tAT	p.S1032Y	SYNJ2_uc003qqw.2_Missense_Mutation_p.S1032Y|SYNJ2_uc003qqy.2_Missense_Mutation_p.S795Y|SYNJ2_uc003qqz.2_Missense_Mutation_p.S649Y|SYNJ2_uc003qra.2_Missense_Mutation_p.S375Y	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1032							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCTGGAGTCTCGGACAGTGAAC	0.515													7	302					0	0	1	0	0	AT	158505094	CG	AT	158505093	3	1	254	1	0	0	0	0	1	0	0	0	15450	893	31	4	3181	4	SYNJ2	6	158505093	Missense_Mutation	DNP	CG	TCGA-EM-A2CT-01A-11D-A17V-08		158505093	12609974	7	4400											
DICER1	23405	broad.mit.edu	37	chr14	95556886	95556886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggcttcggagggctctTcttgctgctgcagatttggc	14	9	2	2			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr14:95556886T>G	uc001ydw.2	-	27	5930	c.5718A>C	c.(5716-5718)agA>agC	p.R1906S	DICER1_uc010avh.1_Missense_Mutation_p.R804S|DICER1_uc021sbc.1_3'UTR|DICER1_uc001ydv.2_Missense_Mutation_p.R1896S|DICER1_uc001ydx.2_Missense_Mutation_p.R1906S	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1906	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGAGGGCTCTTCTTGCTGCTG	0.418			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				59	106					0	0	1	0	0	G	95556886	T	G	95556886	3	3	254	1	0	0	0	0	1	0	0	0	4521	1780	62	5	54	5	DICER1	14	95556886	Missense_Mutation	SNP	T	TCGA-EM-A2CT-01A-11D-A17V-08		95556886	11792654	8	4401											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39279800	39279800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcacagcacaaggggCgggggcaggtggagatgaca	20	7	0	2			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr17:39279800C>T	uc002hwa.3	-	0	620	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACAAGGGGCGGGGGCAGGT	0.572													6	17					0	0	1	0	0	T	39279800	C	T	39279800	3	4	254	1	0	0	0	0	1	0	0	0	8550	768	27	1	34	1	KRTAP4-12	17	39279800	Missense_Mutation	SNP	C	TCGA-EM-A2CT-01A-11D-A17V-08		39279800	41915410	9	4402											
WDR7	23335	broad.mit.edu	37	chr18	54603138	54603138	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaccatagccaaagaggTgagcggaacttctcagtgtg	11	11	1	2			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr18:54603138T>C	uc002lgk.1	+	23	4042	c.3831_splice	c.e23+2	p.E1277_splice	WDR7_uc002lgl.1_Splice_Site_p.E1244_splice	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1277										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCAAAGAGGTGAGCGGAACT	0.517													10	90					0	0	1	0	0	C	54603138	T	C	54603138	5	2	254	1	0	0	0	0	0	0	1	0	17317	1710	59	3	3919	3	WDR7	18	54603138	Splice_Site	SNP	T	TCGA-EM-A2CT-01A-11D-A17V-08		54603138	23474110	10	4403											
HNRNPR	10236	broad.mit.edu	37	chr1	23645159	23645159	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtcatcgggttgatgataGagaataacgtccaccaaacc	9	9	1	3			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr1:23645159G>A	uc001bgp.4	-	7	1002	c.843C>T	c.(841-843)ctC>ctT	p.L281L	HNRNPR_uc010odw.2_Silent_p.L240L|HNRNPR_uc009vql.3_Silent_p.L139L|HNRNPR_uc001bgr.4_Silent_p.L278L|HNRNPR_uc001bgs.4_Silent_p.L177L|HNRNPR_uc009vqk.3_Silent_p.L180L|HNRNPR_uc010odx.2_Silent_p.L118L	NM_001102398	NP_001095869	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 1, mRNA.	278	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTTGATGATAGAGAATAACGT	0.463													6	17					0	0	1	0	0	A	23645159	G	A	23645159	2	1	255	1	0	0	0	0	0	0	0	1	7272	929	33	2		2	HNRNPR	1	23645159	Silent	SNP	G	TCGA-EM-A2CU-01A-12D-A17V-08		23645159	225605462	1	4404											
INADL	10207	broad.mit.edu	37	chr1	62550208	62550208	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggtttccaggctcctctgtCagtggaccccgcaacgtgtc	11	14	2	0			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr1:62550208C>G	uc001dab.3	+	32	4379	c.4265C>G	c.(4264-4266)tCa>tGa	p.S1422*	INADL_uc009waf.1_Nonsense_Mutation_p.S1422*|INADL_uc001daa.2_Nonsense_Mutation_p.S1422*|INADL_uc001dad.3_Nonsense_Mutation_p.S1119*|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Nonsense_Mutation_p.S206*|INADL_uc009wag.3_Nonsense_Mutation_p.S206*|INADL_uc010oou.1_Nonsense_Mutation_p.S95*	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1422					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCTCCTCTGTCAGTGGACCCC	0.517													4	44					0	0	1	0	0	G	62550208	C	G	62550208	4	3	255	1	0	0	0	0	0	1	0	0	7731	838	29	4	4391	4	INADL	1	62550208	Nonsense_Mutation	SNP	C	TCGA-EM-A2CU-01A-12D-A17V-08	38905049	62550208	186700413	2	4405											
CHSY3	337876	broad.mit.edu	37	chr5	129520924	129520924	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagggagagttttccAgaggtcttggtcttgaaatg	13	5	2	4			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr5:129520924A>T	uc003kvd.3	+	2	2089	c.2089A>T	c.(2089-2091)Aga>Tga	p.R697*		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	697						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGAGTTTTCCAGAGGTCTTGG	0.443													8	30					0	0	1	0	0	T	129520924	A	T	129520924	4	4	255	1	0	0	0	0	0	1	0	0	3413	180	7	5	2099	5	CHSY3	5	129520924	Nonsense_Mutation	SNP	A	TCGA-EM-A2CU-01A-12D-A17V-08		129520924	51394336	3	4406											
OR5J2	282775	broad.mit.edu	37	chr11	55944860	55944860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catattctatggtaccttaaTctttagctacattcagccaa	4	10	3	0	rs139886298		TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr11:55944860T>C	uc010rjb.2	+	0	767	c.767T>C	c.(766-768)aTc>aCc	p.I256T		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GGTACCTTAATCTTTAGCTAC	0.448													4	63					0	0	1	0	0	C	55944860	T	C	55944860	3	2	255	1	0	0	0	0	1	0	0	0	11165	1435	50	3	769	3	OR5J2	11	55944860	Missense_Mutation	SNP	T	TCGA-EM-A2CU-01A-12D-A17V-08		55944860	79061656	4	4407											
RGS6	9628	broad.mit.edu	37	chr14	72961895	72961895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaatatgtggaatatgAccctttgataacaccagctg	9	8	0	2			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr14:72961895A>G	uc010ttp.1	+	10	786	c.683A>G	c.(682-684)gAc>gGc	p.D228G	RGS6_uc021rvv.1_Missense_Mutation_p.D262G|RGS6_uc001xna.4_Missense_Mutation_p.D297G|RGS6_uc010ttn.2_Missense_Mutation_p.D297G|RGS6_uc021rvw.1_Missense_Mutation_p.D297G|RGS6_uc021rvx.1_Missense_Mutation_p.D297G|RGS6_uc021rvy.1_Intron|RGS6_uc021rvz.1_Intron|RGS6_uc001xmy.4_Missense_Mutation_p.D297G|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.D297G|RGS6_uc021rwa.1_Intron|RGS6_uc021rwb.1_Intron|RGS6_uc021rwc.1_Missense_Mutation_p.D158G	NM_001204418	NP_001191347	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 4, mRNA.	297					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GTGGAATATGACCCTTTGATA	0.428													3	76					0	0	1	0	0	G	72961895	A	G	72961895	3	3	255	1	0	0	0	0	1	0	0	0	13309	275	10	3	936	3	RGS6	14	72961895	Missense_Mutation	SNP	A	TCGA-EM-A2CU-01A-12D-A17V-08		72961895	34387645	5	4408											
CHTF18	63922	broad.mit.edu	37	chr16	845756	845756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcgcgccagccacgcgCagccgggccacgccccaggc	14	20	0	0			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr16:845756C>T	uc002ckf.4	+	15	2394	c.2331C>T	c.(2329-2331)cgC>cgT	p.R777R	CHTF18_uc002cke.4_Silent_p.R749R|CHTF18_uc010brf.3_Silent_p.R331R|CHTF18_uc002ckg.4_Silent_p.R267R	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	749					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGCCACGCGCAGCCGGGCCA	0.701													5	13					0	0	1	0	0	T	845756	C	T	845756	2	4	255	1	0	0	0	0	0	0	0	1	3414	697	25	2		2	CHTF18	16	845756	Silent	SNP	C	TCGA-EM-A2CU-01A-12D-A17V-08		845756	89508997	6	4409											
FERMT1	55612	broad.mit.edu	37	chr20	6065760	6065760	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccgtggtgacacaaaacattCtgggttcatatccatgtttt	8	9	2	1			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr20:6065760C>G	uc002wmr.3	-	11	2335	c.1546G>C	c.(1546-1548)Gaa>Caa	p.E516Q	FERMT1_uc002wmq.3_Missense_Mutation_p.E69Q|FERMT1_uc010gbt.3_Missense_Mutation_p.E259Q	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	516	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACAAAACATTCTGGGTTCATA	0.418													3	50					0	0	1	0	0	G	6065760	C	G	6065760	3	3	255	1	0	0	0	0	1	0	0	0	5817	922	32	4	503	4	FERMT1	20	6065760	Missense_Mutation	SNP	C	TCGA-EM-A2CU-01A-12D-A17V-08		6065760	56959760	7	4410											
ARHGEF6	9459	broad.mit.edu	37	chrX	135827439	135827439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagaaactgctccctgtggGtttgtctgagaagtattagc	11	8	1	2			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chrX:135827439G>A	uc004fab.3	-	3	864	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ARHGEF6_uc011mwd.2_5'UTR|ARHGEF6_uc011mwe.2_5'UTR	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	134					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTCCCTGTGGGTTTGTCTGAG	0.433													53	92					0	0	1	0	0	A	135827439	G	A	135827439	2	1	255	1	0	0	0	0	0	0	0	1	910	1252	44	2		2	ARHGEF6	23	135827439	Silent	SNP	G	TCGA-EM-A2CU-01A-12D-A17V-08		135827439	19443121	8	4411											
FLG	2312	broad.mit.edu	37	chr1	152275656	152275656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcgcggtgagaggatccGgggtgtctggagccatctct	16	9	2	1	rs147335121		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:152275656G>A	uc001ezu.1	-	2	11742	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3902L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517									Ichthyosis				5	95					0	0	1	0	0	A	152275656	G	A	152275656	2	1	256	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152275656	Silent	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		152275656	96974965	1	4412											
DCST2	127579	broad.mit.edu	37	chr1	155004126	155004126	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggcttgtggtatgaccatCatgcagctgtccttggcatc	11	10	1	1			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:155004126C>T	uc001fgm.3	-	3	743	c.663G>A	c.(661-663)atG>atA	p.M221I	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	221						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTATGACCATCATGCAGCTGT	0.567													10	112					0	0	1	0	0	T	155004126	C	T	155004126	3	4	256	1	0	0	0	0	1	0	0	0	4303	826	29	2	1706	2	DCST2	1	155004126	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	2728470	155004126	94246495	2	4413											
APOB	338	broad.mit.edu	37	chr2	21231425	21231425	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccctatgtcagcatttgcaTctaatgtgaaaagaggagat	9	7	2	3			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:21231425T>A	uc002red.3	-	25	8443	c.8315A>T	c.(8314-8316)gAt>gTt	p.D2772V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2772					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCATTTGCATCTAATGTGAA	0.428													10	174					0	0	1	0	0	A	21231425	T	A	21231425	3	1	256	1	0	0	0	0	1	0	0	0	785	1435	50	5	5392	5	APOB	2	21231425	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08		21231425	221967948	3	4414											
YSK4	80122	broad.mit.edu	37	chr2	135744495	135744495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttgaattgatttctttgaaCatatcactatacttaagatc	5	6	2	4			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:135744495C>G	uc002tue.1	-	6	1978	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.M536I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.M377I|YSK4_uc002tui.4_Missense_Mutation_p.M666I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	649							ATP binding|protein serine/threonine kinase activity	p.A649T(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTCTTTGAACATATCACTAT	0.393													3	221					0	0	1	0	0	G	135744495	C	G	135744495	3	3	256	1	0	0	0	0	1	0	0	0	17492	478	17	4	2055	4	YSK4	2	135744495	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	114513070	135744495	107454878	4	4415											
CD28	940	broad.mit.edu	37	chr2	204594418	204594418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggaccttctaagcccTtttgggtgctggtggtggtt	13	10	1	0			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:204594418T>C	uc002vah.4	+	2	679	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	CD28_uc010zio.2_Missense_Mutation_p.F56L|CD28_uc010ftx.3_Missense_Mutation_p.F34L|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	153					T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTAAGCCCTTTTGGGTGCT	0.443													3	186					0	0	1	0	0	C	204594418	T	C	204594418	3	2	256	1	0	0	0	0	1	0	0	0	2993	1609	56	3	467	3	CD28	2	204594418	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	68849923	204594418	38604955	5	4416											
KIF1A	547	broad.mit.edu	37	chr2	241724413	241724413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactcactcaccttctccGtggtgatattggtctctgcg	9	14	4	1			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:241724413G>A	uc010fzk.3	-	6	960	c.713C>T	c.(712-714)aCg>aTg	p.T238M	KIF1A_uc002vzy.3_Missense_Mutation_p.T238M|KIF1A_uc002vzz.2_Missense_Mutation_p.T238M	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	238	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACCTTCTCCGTGGTGATATT	0.612													4	165					0	0	1	0	0	A	241724413	G	A	241724413	3	1	256	1	0	0	0	0	1	0	0	0	8283	1145	40	1	4523	1	KIF1A	2	241724413	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	37129995	241724413	1474960	6	4417											
GRIP2	80852	broad.mit.edu	37	chr3	14558718	14558718	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaagggagttgaagacAaggctggggagatgagagca	18	3	0	4			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:14558718A>G	uc021wtn.1	-	12	1448	c.1448T>C	c.(1447-1449)tTg>tCg	p.L483S		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	387	PDZ 4.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGTTGAAGACAAGGCTGGGGA	0.612													4	52					0	0	1	0	0	G	14558718	A	G	14558718	3	3	256	1	0	0	0	0	1	0	0	0	6788	131	5	3	2026	3	GRIP2	3	14558718	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		14558718	183463712	7	4418											
EPHB1	2047	broad.mit.edu	37	chr3	134960104	134960104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggaagtcatgtcatttGgagagagaccctattgggat	14	5	2	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:134960104G>A	uc003eqt.3	+	12	2836	c.2461G>A	c.(2461-2463)Gga>Aga	p.G821R	EPHB1_uc003equ.3_Missense_Mutation_p.G382R	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	821	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATGTCATTTGGAGAGAGACC	0.517													112	207					0	0	1	0	0	A	134960104	G	A	134960104	3	1	256	1	0	0	0	0	1	0	0	0	5174	1349	47	2	2511	2	EPHB1	3	134960104	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	120401386	134960104	63062326	8	4419											
SMARCA5	8467	broad.mit.edu	37	chr4	144466691	144466691	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccacgtttatttgaattActggaaaaagaaattctgtt	6	7	1	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr4:144466691A>G	uc003ijg.3	+	17	2814	c.2352A>G	c.(2350-2352)ttA>ttG	p.L784L		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	784					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TATTTGAATTACTGGAAAAAG	0.338													3	68					0	0	1	0	0	G	144466691	A	G	144466691	2	3	256	1	0	0	0	0	0	0	0	1	14771	388	14	3		3	SMARCA5	4	144466691	Silent	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		144466691	46687585	9	4420											
ZBTB22	9278	broad.mit.edu	37	chr6	33283609	33283609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggctcactcagggtaCggacatcacttatgctgagg	14	10	3	1	rs147840428	by1000genomes	TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:33283609C>T	uc003oeb.3	-	1	1237	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.R362H|ZBTB22_uc021ywm.1_Missense_Mutation_p.R362H	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ACTCAGGGTACGGACATCACT	0.577													4	126					0	0	1	0	0	T	33283609	C	T	33283609	3	4	256	1	0	0	0	0	1	0	0	0	17527	536	19	1	823	1	ZBTB22	6	33283609	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		33283609	137831458	10	4421											
RIMS1	22999	broad.mit.edu	37	chr6	72968798	72968798	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtggatagtcagtatTtatcagaacaagacaggtat	11	4	2	3			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:72968798T>G	uc003pga.3	+	17	3114	c.3037T>G	c.(3037-3039)Tta>Gta	p.L1013V	RIMS1_uc011dyb.2_Missense_Mutation_p.L638V|RIMS1_uc003pgc.3_Missense_Mutation_p.L639V|RIMS1_uc010kaq.3_Missense_Mutation_p.L486V|RIMS1_uc011dyc.2_Missense_Mutation_p.L487V|RIMS1_uc010kar.3_Missense_Mutation_p.L406V|RIMS1_uc011dyd.2_Missense_Mutation_p.L472V|RIMS1_uc003pge.3_Missense_Mutation_p.L230V|RIMS1_uc003pgf.3_Missense_Mutation_p.L229V|RIMS1_uc003pgi.3_Missense_Mutation_p.L229V|RIMS1_uc003pgg.3_Missense_Mutation_p.L230V|RIMS1_uc003pgh.3_Missense_Mutation_p.L229V|RIMS1_uc003pgd.3_Missense_Mutation_p.L230V|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.L639V|RIMS1_uc010kas.1_Missense_Mutation_p.L472V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1013					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTCAGTATTTATCAGAACA	0.363													20	37					0	0	1	0	0	G	72968798	T	G	72968798	3	3	256	1	0	0	0	0	1	0	0	0	13367	1838	64	5	3270	5	RIMS1	6	72968798	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	39685189	72968798	98146269	11	4422											
MTHFD1L	25902	broad.mit.edu	37	chr6	151239804	151239804	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctctgcgaattcaGgtttgttcaacatagctgtc	10	10	3	0			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:151239804G>C	uc021zgs.1	+	9	1131	c.987_splice	c.e9+1	p.Q329_splice	MTHFD1L_uc011een.2_Splice_Site|MTHFD1L_uc003qob.3_Splice_Site_p.Q328_splice|MTHFD1L_uc021zgt.1_Splice_Site_p.Q263_splice|MTHFD1L_uc003qoc.3_Splice_Site_p.Q276_splice	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	328	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGCGAATTCAGGTTTGTTCAA	0.403													4	114					0	0	1	0	0	C	151239804	G	C	151239804	5	2	256	1	0	0	0	0	0	0	1	0	9928	1014	35	4	1018	4	MTHFD1L	6	151239804	Splice_Site	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	78271006	151239804	19875263	12	4423											
PLG	5340	broad.mit.edu	37	chr6	161134119	161134119	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctatactactgatccagAaaagagatatgactactgcg	9	8	0	4			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:161134119A>C	uc003qtm.4	+	4	621	c.509A>C	c.(508-510)gAa>gCa	p.E170A		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	170	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.P169R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTGATCCAGAAAAGAGATAT	0.463													5	197					0	0	1	0	0	C	161134119	A	C	161134119	3	2	256	1	0	0	0	0	1	0	0	0	12086	246	9	5	531	5	PLG	6	161134119	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08	9894315	161134119	9980948	13	4424											
PFKP	5214	broad.mit.edu	37	chr10	3177999	3177999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgttatttttcaacctGtggcagagctgaagaagcaa	10	7	1	3			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:3177999G>A	uc001igp.3	+	20	2270	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	PFKP_uc001igq.3_Missense_Mutation_p.V724M|PFKP_uc009xhr.3_Missense_Mutation_p.V694M|PFKP_uc009xht.3_Missense_Mutation_p.V470M|PFKP_uc009xhu.3_Missense_Mutation_p.V238M	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	732					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TTTTCAACCTGTGGCAGAGCT	0.398													4	68					0	0	1	0	0	A	3177999	G	A	3177999	3	1	256	1	0	0	0	0	1	0	0	0	11766	1377	48	2	2276	2	PFKP	10	3177999	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		3177999	132356748	14	4425											
TET1	80312	broad.mit.edu	37	chr10	70411612	70411612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccacagatcgagttaTacaaaaagacaaaggcccat	6	11	0	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:70411612T>C	uc001jok.4	+	4	4791	c.4286T>C	c.(4285-4287)aTa>aCa	p.I1429T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1429					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GATCGAGTTATACAAAAAGAC	0.428													7	131					0	0	1	0	0	C	70411612	T	C	70411612	3	2	256	1	0	0	0	0	1	0	0	0	15766	1406	49	3	4300	3	TET1	10	70411612	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	67233613	70411612	65123135	15	4426											
PLCE1	51196	broad.mit.edu	37	chr10	95849061	95849061	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaaggttggttggctcttCccgctctctgaggtacccaa	11	11	2	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:95849061C>T	uc001kjm.3	+	0	232	c.210C>T	c.(208-210)ttC>ttT	p.F70F	PLCE1_uc001kjk.3_Intron|PLCE1_uc010qnx.2_Intron|BC035380_uc001kjl.1_Intron	NM_001165979	NP_001159451	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 2, mRNA.	0					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTTGGCTCTTCCCGCTCTCTG	0.512													59	106					0	0	1	0	0	T	95849061	C	T	95849061	2	4	256	1	0	0	0	0	0	0	0	1	12034	854	30	2		2	PLCE1	10	95849061	Silent	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	25437449	95849061	39685686	16	4427											
ATP2A2	488	broad.mit.edu	37	chr12	110765417	110765417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcaactggagttaacacCgaaattggcaagatccggga	12	8	0	1	rs143310856	by1000genomes	TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr12:110765417C>T	uc001tqk.4	+	7	1253	c.690C>T	c.(688-690)acC>acT	p.T230T	ATP2A2_uc001tql.4_Silent_p.T230T|ATP2A2_uc021rdt.1_Silent_p.T78T	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	230					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAGTTAACACCGAAATTGGCA	0.463													7	251					0	0	1	0	0	T	110765417	C	T	110765417	2	4	256	1	0	0	0	0	0	0	0	1	1137	639	23	1		1	ATP2A2	12	110765417	Silent	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		110765417	23086478	17	4428											
FRY	10129	broad.mit.edu	37	chr13	32835817	32835817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggacagcctggataagtGtgatatgcagattctggagg	14	6	2	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr13:32835817G>A	uc001utx.3	+	51	7977	c.7481G>A	c.(7480-7482)tGt>tAt	p.C2494Y	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.C19Y|FRY_uc010tdx.2_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.C2494S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGGATAAGTGTGATATGCAG	0.498													28	40					0	0	1	0	0	A	32835817	G	A	32835817	3	1	256	1	0	0	0	0	1	0	0	0	6063	1377	48	2	7687	2	FRY	13	32835817	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		32835817	82334061	18	4429											
ABCA3	21	broad.mit.edu	37	chr16	2331127	2331127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtcgtggtcttcccGgctccattgaagcccagcag	11	12	1	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr16:2331127G>A	uc002cpy.1	-	27	4972	c.4260C>T	c.(4258-4260)gcC>gcT	p.A1420A	ABCA3_uc010bsk.1_Silent_p.A1362A	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1420	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGGTCTTCCCGGCTCCATTGA	0.617													4	100					0	0	1	0	0	A	2331127	G	A	2331127	2	1	256	1	0	0	0	0	0	0	0	1	33	1103	39	1		1	ABCA3	16	2331127	Silent	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		2331127	88023626	19	4430											
GLP2R	9340	broad.mit.edu	37	chr17	9763385	9763385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtgcttcctgagaggCggctgtggcccagatacctg	13	13	0	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:9763385C>T	uc002gmd.1	+	6	892	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	298					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCCTGAGAGGCGGCTGTGGCC	0.542													10	23					0	0	1	0	0	T	9763385	C	T	9763385	3	4	256	1	0	0	0	0	1	0	0	0	6453	759	27	1	918	1	GLP2R	17	9763385	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		9763385	71431825	20	4431											
EZH1	2145	broad.mit.edu	37	chr17	40857116	40857116	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagcactcacctcaccacagTattcagaaatgaattcgttc	5	12	3	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:40857116T>A	uc010wgu.2	-	15	1979	c.1943A>T	c.(1942-1944)tAc>tTc	p.Y648F	EZH1_uc002iaz.3_Missense_Mutation_p.Y642F|EZH1_uc002iba.3_Missense_Mutation_p.Y633F|EZH1_uc010wgt.2_Missense_Mutation_p.Y572F|EZH1_uc010wgv.2_Missense_Mutation_p.Y602F|EZH1_uc010wgw.2_Missense_Mutation_p.Y503F|EZH1_uc010cyp.2_Missense_Mutation_p.Y543F|EZH1_uc010cyq.2_Missense_Mutation_p.Y559F|EZH1_uc010cyo.1_Missense_Mutation_p.Y305F	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	642	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTCACCACAGTATTCAGAAAT	0.507													26	64					0	0	1	0	0	A	40857116	T	A	40857116	3	1	256	1	0	0	0	0	1	0	0	0	5333	1638	57	5	338	5	EZH1	17	40857116	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	31093731	40857116	40338094	21	4432											
THOC1	9984	broad.mit.edu	37	chr18	265318	265318	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacaatttcttcttctagAatacctctgaaagcttggtc	5	10	4	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr18:265318A>C	uc002kkj.4	-	2	214	c.174T>G	c.(172-174)atT>atG	p.I58M	THOC1_uc002kkl.2_Missense_Mutation_p.I58M	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	58					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTCTTCTAGAATACCTCTGA	0.269													7	14					0	0	1	0	0	C	265318	A	C	265318	3	2	256	1	0	0	0	0	1	0	0	0	15861	242	9	5	1875	5	THOC1	18	265318	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		265318	77811930	22	4433											
ZNF234	10780	broad.mit.edu	37	chr19	44661248	44661248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcagccttcacaatttcAggcccatcggagaatccaca	6	13	3	1			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr19:44661248A>G	uc002oym.3	+	5	1386	c.1079A>G	c.(1078-1080)cAg>cGg	p.Q360R	ZNF234_uc002oyl.4_Missense_Mutation_p.Q360R	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q360R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCACAATTTCAGGCCCATCGG	0.443													3	39					0	0	1	0	0	G	44661248	A	G	44661248	3	3	256	1	0	0	0	0	1	0	0	0	17784	188	7	3	1093	3	ZNF234	19	44661248	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		44661248	14467735	23	4434											
TM9SF4	9777	broad.mit.edu	37	chr20	30745657	30745657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggatctccctgcccctcGtctacttgggctactacttc	8	16	2	0			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:30745657G>A	uc002wxj.2	+	13	1625	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	TM9SF4_uc010zts.1_Missense_Mutation_p.V371I|TM9SF4_uc002wxk.2_Missense_Mutation_p.V447I	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	464						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGCCCCTCGTCTACTTGGG	0.602													67	132					0	0	1	0	0	A	30745657	G	A	30745657	3	1	256	1	0	0	0	0	1	0	0	0	15977	1145	40	1	1444	1	TM9SF4	20	30745657	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		30745657	32279863	24	4435											
PARD6B	84612	broad.mit.edu	37	chr20	49366339	49366339	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actttagacctgtgtcttctAttatagacgtggatattctc	7	8	3	2			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:49366339A>T	uc002xvo.3	+	2	676	c.433A>T	c.(433-435)Att>Ttt	p.I145F		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	145	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGTGTCTTCTATTATAGACGT	0.438													27	46					0	0	1	0	0	T	49366339	A	T	49366339	3	4	256	1	0	0	0	0	1	0	0	0	11446	449	16	5	443	5	PARD6B	20	49366339	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08	18620682	49366339	13659181	25	4436											
SPIN4	139886	broad.mit.edu	37	chrX	62570519	62570519	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgctcgagcacagtaccCttccactgctccactggctc	7	18	0	0			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:62570519C>A	uc004dvf.3	-	0	700	c.180G>T	c.(178-180)aaG>aaT	p.K60N		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	Homo sapiens spindlin family, member 4 (SPIN4), mRNA.	60					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GCACAGTACCCTTCCACTGCT	0.522													3	20					0	0	1	0	0	A	62570519	C	A	62570519	3	1	256	1	0	0	0	0	1	0	0	0	15055	680	24	4	573	4	SPIN4	23	62570519	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		62570519	92700041	26	4437											
CXorf61	203413	broad.mit.edu	37	chrX	115592946	115592946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgatgcacctctgaaacCcttgctaagtagagtatgtt	10	8	1	3			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:115592946C>T	uc004eqj.1	-	1	424	c.304G>A	c.(304-306)Ggt>Agt	p.G102S		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	102						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						CCTCTGAAACCCTTGCTAAGT	0.423													4	190					0	0	1	0	0	T	115592946	C	T	115592946	3	4	256	1	0	0	0	0	1	0	0	0	4116	623	22	2	41	2	CXorf61	23	115592946	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	53022427	115592946	39677614	27	4438											
CD40LG	959	broad.mit.edu	37	chrX	135741330	135741330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaccttctgttccaatcGggaagcttcgagtcaagctc	9	12	3	0	rs11575982	byFrequency	TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:135741330G>A	uc004faa.3	+	4	614	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	CD40LG_uc010nsd.3_Missense_Mutation_p.R160Q	NM_000074	NP_000065	P29965	CD40L_HUMAN	Homo sapiens CD40 ligand (CD40LG), mRNA.	181					B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.R181L(4)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TGTTCCAATCGGGAAGCTTCG	0.463									Immune Deficiency with Hyper-IgM				166	306					0	0	1	0	0	A	135741330	G	A	135741330	3	1	256	1	0	0	0	0	1	0	0	0	3016	1116	39	1	560	1	CD40LG	23	135741330	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	20148384	135741330	19529230	28	4439											
IL23R	149233	broad.mit.edu	37	chr1	67705965	67705965	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagatcattccgaactggGtaggtttttgcagaatttct	9	7	2	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr1:67705965G>A	uc001ddo.3	+	9	1233	c.1148_splice	c.e9+1	p.G383_splice	IL23R_uc009waz.3_Splice_Site_p.G180_splice|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.2_Intron|IL23R_uc010opj.2_Intron|IL23R_uc010opk.2_Intron|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Splice_Site|IL23R_uc001ddq.3_Splice_Site_p.G129_splice|IL23R_uc010opn.2_Splice_Site_p.G228_splice|IL23R_uc001ddr.3_Intron|IL23R_uc010opo.1_Splice_Site_p.G242_splice|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Splice_Site_p.G212_splice|IL23R_uc010opr.1_Splice_Site|IL23R_uc010oqh.2_Splice_Site_p.G24_splice|IL23R_uc010oqf.2_Splice_Site|IL23R_uc010ops.2_Splice_Site_p.G180_splice|IL23R_uc010opt.2_Splice_Site_p.G24_splice|IL23R_uc010opu.2_Splice_Site_p.G79_splice|IL23R_uc010opv.2_Splice_Site_p.G141_splice|IL23R_uc010opw.2_Intron|IL23R_uc010opx.2_Splice_Site_p.G24_splice|IL23R_uc010opy.2_Splice_Site_p.G150_splice|IL23R_uc010opz.2_Splice_Site_p.G24_splice|IL23R_uc010oqa.2_Splice_Site_p.G24_splice|IL23R_uc010oqb.2_Splice_Site_p.G212_splice|IL23R_uc010oqc.2_Splice_Site_p.G99_splice|IL23R_uc010oqd.2_Intron|IL23R_uc010oqe.2_Intron|IL23R_uc010oqg.2_Intron|IL23R_uc001dds.3_Splice_Site_p.G128_splice|IL23R_uc001ddt.3_Intron	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	383					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCGAACTGGGTAGGTTTTTG	0.323													4	38					0	0	1	0	0	A	67705965	G	A	67705965	5	1	257	1	0	0	0	0	0	0	1	0	7676	1275	44	2	1179	2	IL23R	1	67705965	Splice_Site	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		67705965	181544656	1	4440											
PLEK	5341	broad.mit.edu	37	chr2	68608012	68608012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctaccaggaggtccattcGactgccagaaaccattgact	8	12	1	2	rs144599110		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr2:68608012G>A	uc002sen.4	+	2	518	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	PLEK_uc010fde.3_Missense_Mutation_p.R119Q	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	119					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGTCCATTCGACTGCCAGAA	0.458													6	237					0	0	1	0	0	A	68608012	G	A	68608012	3	1	257	1	0	0	0	0	1	0	0	0	12053	1058	37	1	366	1	PLEK	2	68608012	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		68608012	174591361	2	4441											
STAT4	6775	broad.mit.edu	37	chr2	191900911	191900911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagcttctctgccagcaTatggagttgatctgagttaa	10	7	2	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr2:191900911T>A	uc002usm.2	-	16	1864	c.1549A>T	c.(1549-1551)Atg>Ttg	p.M517L	STAT4_uc002usn.2_Missense_Mutation_p.M517L|STAT4_uc010zgk.1_Missense_Mutation_p.M362L|STAT4_uc002uso.2_Missense_Mutation_p.M517L	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	517					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCTGCCAGCATATGGAGTTGA	0.458													6	81					0	0	1	0	0	A	191900911	T	A	191900911	3	1	257	1	0	0	0	0	1	0	0	0	15266	1406	49	5	729	5	STAT4	2	191900911	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08	123292899	191900911	51298462	3	4442											
SHROOM3	57619	broad.mit.edu	37	chr4	77637504	77637504	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctttttattccacgacTgaatatgacatccaattggc	7	9	0	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr4:77637504T>C	uc003hkf.1	+	0	351	c.21T>C	c.(19-21)acT>acC	p.T7T	SHROOM3_uc011cbx.2_Intron|SHROOM3_uc011cbz.1_Intron	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	0					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATTCCACGACTGAATATGACA	0.453													4	314					0	0	1	0	0	C	77637504	T	C	77637504	2	2	257	1	0	0	0	0	0	0	0	1	14295	1595	55	3		3	SHROOM3	4	77637504	Silent	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		77637504	113516772	4	4443											
CXXC4	80319	broad.mit.edu	37	chr4	105412390	105412390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattagtatttgccatttgCaacgacggctctggcgggca	11	9	1	0			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr4:105412390C>T	uc003hxg.3	-	0	78	c.63G>A	c.(61-63)ttG>ttA	p.L21L	AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	21					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTGCCATTTGCAACGACGGCT	0.617													16	306					0	0	1	0	0	T	105412390	C	T	105412390	2	4	257	1	0	0	0	0	0	0	0	1	4098	709	25	2		2	CXXC4	4	105412390	Silent	SNP	C	TCGA-EM-A2OW-01A-11D-A202-08	27774886	105412390	85741886	5	4444											
PEX1	5189	broad.mit.edu	37	chr7	92120650	92120650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaagtagagccggtacAtattgaattttgattcatct	7	7	2	3			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr7:92120650A>G	uc003uly.3	-	20	3470	c.3374T>C	c.(3373-3375)aTg>aCg	p.M1125T	PEX1_uc011khr.2_Missense_Mutation_p.M917T|PEX1_uc010ley.3_Missense_Mutation_p.M1068T|PEX1_uc011khs.2_Missense_Mutation_p.M803T	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	1125					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAGCCGGTACATATTGAATTT	0.408													3	116					0	0	1	0	0	G	92120650	A	G	92120650	3	3	257	1	0	0	0	0	1	0	0	0	11735	217	8	3	493	3	PEX1	7	92120650	Missense_Mutation	SNP	A	TCGA-EM-A2OW-01A-11D-A202-08		92120650	67018013	6	4445											
DLC1	10395	broad.mit.edu	37	chr8	12948874	12948874	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catatgggccagcccttgagTggcagctaggttttcattca	11	10	2	1			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr8:12948874T>A	uc003wwm.2	-	13	4252	c.3808A>T	c.(3808-3810)Act>Tct	p.T1270S	DLC1_uc003wwk.1_Missense_Mutation_p.T833S|DLC1_uc003wwl.1_Missense_Mutation_p.T867S|DLC1_uc011kxx.1_Missense_Mutation_p.T759S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1270	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGCCCTTGAGTGGCAGCTAGG	0.423													30	81					0	0	1	0	0	A	12948874	T	A	12948874	3	1	257	1	0	0	0	0	1	0	0	0	4550	1696	59	5	798	5	DLC1	8	12948874	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		12948874	133415148	7	4446											
ASTN2	23245	broad.mit.edu	37	chr9	119770423	119770423	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtcgtcctttgtccacaGaggtccctcacccatgggga	10	14	2	1			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr9:119770423G>A	uc004bjt.2	-	5	1487	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	ASTN2_uc022bml.1_Silent_p.L162L|ASTN2_uc022bmm.1_Silent_p.L162L	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	513						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTGTCCACAGAGGTCCCTCA	0.582													10	77					0	0	1	0	0	A	119770423	G	A	119770423	2	1	257	1	0	0	0	0	0	0	0	1	1065	929	33	2		2	ASTN2	9	119770423	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		119770423	21443008	8	4447											
OR4C11	219429	broad.mit.edu	37	chr11	55371142	55371142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatgtgagacgtgcaagcGgagagagcctttttcttccc	11	9	1	2	rs146621611	byFrequency	TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr11:55371142G>A	uc010rii.2	-	0	733	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ACGTGCAAGCGGAGAGAGCCT	0.413													4	113					0	0	1	0	0	A	55371142	G	A	55371142	2	1	257	1	0	0	0	0	0	0	0	1	11045	1103	39	1		1	OR4C11	11	55371142	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		55371142	79635374	9	4448											
PZP	5858	broad.mit.edu	37	chr12	9355129	9355129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccctacttacctgtctgtCctggtttatacatgggtttg	8	10	1	0			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr12:9355129C>T	uc001qvl.3	-	2	448	c.419G>A	c.(418-420)gGa>gAa	p.G140E	PZP_uc009zgl.3_5'UTR	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACCTGTCTGTCCTGGTTTATA	0.498													7	163					0	0	1	0	0	T	9355129	C	T	9355129	3	4	257	1	0	0	0	0	1	0	0	0	12869	855	30	2	4165	2	PZP	12	9355129	Missense_Mutation	SNP	C	TCGA-EM-A2OW-01A-11D-A202-08		9355129	124496766	10	4449											
PDZRN4	29951	broad.mit.edu	37	chr12	41966431	41966431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacattgactcagactgcaTtggcaacccagatgaggact	9	10	1	4			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr12:41966431T>C	uc010skn.2	+	9	1858	c.1850T>C	c.(1849-1851)aTt>aCt	p.I617T	PDZRN4_uc001rmq.4_Missense_Mutation_p.I359T|PDZRN4_uc009zjz.3_Missense_Mutation_p.I357T|PDZRN4_uc001rmr.3_Missense_Mutation_p.I244T	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	617							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCAGACTGCATTGGCAACCCA	0.473													20	60					0	0	1	0	0	C	41966431	T	C	41966431	3	2	257	1	0	0	0	0	1	0	0	0	11710	1493	52	3	1961	3	PDZRN4	12	41966431	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08	32611302	41966431	91885464	11	4450											
FAM155A	728215	broad.mit.edu	37	chr13	108518546	108518546	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgtctcccggggaGgggggcagggtgggggacga	22	12	1	0			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr13:108518546G>C	uc001vql.3	-	0	915	c.399C>G	c.(397-399)ccC>ccG	p.P133P		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	133						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCCGGGGAGGGGGGCAGGG	0.721													8	20					0	0	1	0	0	C	108518546	G	C	108518546	2	2	257	1	0	0	0	0	0	0	0	1	5465	987	35	4		4	FAM155A	13	108518546	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		108518546	6651332	12	4451											
TSHR	7253	broad.mit.edu	37	chr14	81609760	81609760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtcccccgctttctcaTgtgcaacctggcctttgcgg	10	15	1	0	rs121908864		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr14:81609760T>C	uc001xvd.1	+	9	1514	c.1358T>C	c.(1357-1359)aTg>aCg	p.M453T		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	453			M -> T (in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.M453T(62)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGCTTTCTCATGTGCAACCTG	0.527			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						52	105					0	0	1	0	0	C	81609760	T	C	81609760	3	2	257	1	0	0	0	0	1	0	0	0	16619	1464	51	3	1533	3	TSHR	14	81609760	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		81609760	25739780	13	4452											
GGA2	23062	broad.mit.edu	37	chr16	23498084	23498084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaaggtcctcggggtGgttgctctttagaagccttg	14	9	1	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr16:23498084G>T	uc002dlq.3	-	6	690	c.607C>A	c.(607-609)Cac>Aac	p.H203N	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	203	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TCCTCGGGGTGGTTGCTCTTT	0.507													68	214					0	0	1	0	0	T	23498084	G	T	23498084	3	4	257	1	0	0	0	0	1	0	0	0	6353	1348	47	4	1278	4	GGA2	16	23498084	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		23498084	66856669	14	4453											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401462	77401462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataattccggccagagccGgggtagccacggtaccgctg	15	12	0	1	rs113746494		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr16:77401462G>A	uc002ffc.4	-	3	1073	c.654C>T	c.(652-654)ccC>ccT	p.P218P	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	218					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G216_G219del(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGCCAGAGCCGGGGTAGCCAC	0.552													5	107					0	0	1	0	0	A	77401462	G	A	77401462	2	1	257	1	0	0	0	0	0	0	0	1	263	1103	39	1		1	ADAMTS18	16	77401462	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08	53903378	77401462	12953291	15	4454											
ZNF254	9534	broad.mit.edu	37	chr19	24310503	24310503	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactaaccataagagaatTcatactggagagaaacccta	6	9	1	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr19:24310503T>G	uc002nru.3	+	3	1835	c.1701T>G	c.(1699-1701)atT>atG	p.I567M	ZNF254_uc010xrk.2_Missense_Mutation_p.I482M	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	567					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATAAGAGAATTCATACTGGAG	0.333													13	33					0	0	1	0	0	G	24310503	T	G	24310503	3	3	257	1	0	0	0	0	1	0	0	0	17795	1771	62	5	1715	5	ZNF254	19	24310503	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		24310503	34818480	16	4455											
TOMM40	10452	broad.mit.edu	37	chr19	45397111	45397111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcaccagctgggcccCggtctcaggtccaagatggc	12	14	3	1			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr19:45397111C>T	uc002paa.4	+	3	706	c.510C>T	c.(508-510)ccC>ccT	p.P170P	TOMM40_uc002ozz.3_Silent_p.P170P|TOMM40_uc002ozx.4_Silent_p.P170P|TOMM40_uc002ozy.4_Silent_p.P170P	NM_001128917	NP_006105	O96008	TOM40_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGCTGGGCCCCGGTCTCAGGT	0.647													20	42					0	0	1	0	0	T	45397111	C	T	45397111	2	4	257	1	0	0	0	0	0	0	0	1	16355	639	23	1		1	TOMM40	19	45397111	Silent	SNP	C	TCGA-EM-A2OW-01A-11D-A202-08	21086608	45397111	13731872	17	4456											
IGSF1	3547	broad.mit.edu	37	chrX	130411859	130411859	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagctccagcggctcactgGgctcagaccacttgaagggg	13	13	2	2			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chrX:130411859G>C	uc004ewe.4	-	12	2589	c.2306C>G	c.(2305-2307)cCc>cGc	p.P769R	IGSF1_uc004ewd.3_Missense_Mutation_p.P764R|IGSF1_uc022cdv.1_Missense_Mutation_p.P755R|IGSF1_uc004ewf.2_Missense_Mutation_p.P744R	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	764					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CGGCTCACTGGGCTCAGACCA	0.527													7	112					0	0	1	0	0	C	130411859	G	C	130411859	3	2	257	1	0	0	0	0	1	0	0	0	7596	1232	43	4	1751	4	IGSF1	23	130411859	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		130411859	24858701	18	4457											
ABL2	27	broad.mit.edu	37	chr1	179112141	179112141	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgtcctgatctctgccAtaactattaggtggaaggag	12	7	1	1			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr1:179112141A>G	uc001gmi.4	-	0	84	c.39T>C	c.(37-39)taT>taC	p.Y13Y	ABL2_uc010pnf.2_Intron|ABL2_uc010png.2_Intron|ABL2_uc001gmj.4_Intron|ABL2_uc010pnh.2_Intron|ABL2_uc009wxe.3_Intron|ABL2_uc001gmg.4_Silent_p.Y13Y|ABL2_uc010pne.2_Silent_p.Y13Y|ABL2_uc001gmk.3_Silent_p.Y13Y|ABL2_uc009wxf.2_Silent_p.Y13Y	NM_005158	NP_005149	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant c, mRNA.	0	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GATCTCTGCCATAACTATTAG	0.458			T	ETV6	AML								7	54					0	0	1	0	0	G	179112141	A	G	179112141	2	3	258	1	0	0	0	0	0	0	0	1	93	224	8	3		3	ABL2	1	179112141	Silent	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08		179112141	70138480	1	4458											
HRH2	3274	broad.mit.edu	37	chr5	175110700	175110700	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcctttctgtctatccAcctggggtggaacagcagga	11	12	2	0			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr5:175110700A>T	uc003mdc.4	+	1	1108	c.464A>T	c.(463-465)cAc>cTc	p.H155L	HRH2_uc003mdd.2_Missense_Mutation_p.H155L	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	155					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTGTCTATCCACCTGGGGTGG	0.552													9	58					0	0	1	0	0	T	175110700	A	T	175110700	3	4	258	1	0	0	0	0	1	0	0	0	7356	159	6	5	466	5	HRH2	5	175110700	Missense_Mutation	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08		175110700	5804560	2	4459											
ZNF117	51351	broad.mit.edu	37	chr7	64438817	64438817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatggattatcttatgtgTattaagggctgaggactggt	13	3	1	1			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr7:64438817T>C	uc003ttr.2	-	3	2417	c.1132A>G	c.(1132-1134)Aca>Gca	p.T378A		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	378						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ATCTTATGTGTATTAAGGGCT	0.383													7	53					0	0	1	0	0	C	64438817	T	C	64438817	3	2	258	1	0	0	0	0	1	0	0	0	17714	1638	57	3	323	3	ZNF117	7	64438817	Missense_Mutation	SNP	T	TCGA-EM-A2OX-01A-11D-A202-08		64438817	94699846	3	4460											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	29					0	0	1	0	0	T	140453136	A	T	140453136	3	4	258	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08	76014319	140453136	18685527	4	4461											
JAK2	3717	broad.mit.edu	37	chr9	5029859	5029859	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtatccacccaaccatgtCttccatatagatgagtcaac	6	12	2	2			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr9:5029859C>T	uc010mhm.3	+	2	416	c.303C>T	c.(301-303)gtC>gtT	p.V101V	JAK2_uc003ziw.3_Silent_p.V101V	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	101	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CCAACCATGTCTTCCATATAG	0.368		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				16	99					0	0	1	0	0	T	5029859	C	T	5029859	2	4	258	1	0	0	0	0	0	0	0	1	7938	900	32	2		2	JAK2	9	5029859	Silent	SNP	C	TCGA-EM-A2OX-01A-11D-A202-08		5029859	136183572	5	4462											
ANKRD30A	91074	broad.mit.edu	37	chr10	37454025	37454025	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgattaaccttttatagatgAgatactcccatcagaatcca	5	9	1	4			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr10:37454025A>T	uc021ppc.1	+	17	1937	c.1838A>T	c.(1837-1839)gAg>gTg	p.E613V	ANKRD30A_uc001iza.1_Missense_Mutation_p.E613V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	669						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E613K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTATAGATGAGATACTCCCA	0.308													6	48					0	0	1	0	0	T	37454025	A	T	37454025	3	4	258	1	0	0	0	0	1	0	0	0	658	304	11	5	1908	5	ANKRD30A	10	37454025	Missense_Mutation	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08		37454025	98080722	6	4463											
CHUK	1147	broad.mit.edu	37	chr10	101953150	101953150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggttactgcaccttcTagactggatcctacaaggga	12	9	1	2			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr10:101953150T>C	uc001kqp.3	-	18	2068	c.2013A>G	c.(2011-2013)ctA>ctG	p.L671L		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	671					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|IkappaB kinase activity|identical protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CTGCACCTTCTAGACTGGATC	0.473													22	51					0	0	1	0	0	C	101953150	T	C	101953150	2	2	258	1	0	0	0	0	0	0	0	1	3416	1509	53	3		3	CHUK	10	101953150	Silent	SNP	T	TCGA-EM-A2OX-01A-11D-A202-08	64499125	101953150	33581597	7	4464											
ITGAX	3687	broad.mit.edu	37	chr16	31374648	31374648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccggggtgctgtctacCtgtttcacggagtcttggga	14	9	3	1			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr16:31374648C>T	uc002ebt.3	+	13	1730	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	ITGAX_uc002ebu.1_Silent_p.L555L|ITGAX_uc010vfk.1_Silent_p.L205L	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	555					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGCTGTCTACCTGTTTCACGG	0.622													38	115					0	0	1	0	0	T	31374648	C	T	31374648	2	4	258	1	0	0	0	0	0	0	0	1	7889	680	24	2		2	ITGAX	16	31374648	Silent	SNP	C	TCGA-EM-A2OX-01A-11D-A202-08		31374648	58980105	8	4465											
ACD	65057	broad.mit.edu	37	chr16	67692859	67692859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcgtgaggcagcccagTgggtgacagggggtgctgtg	19	8	0	2			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr16:67692859T>C	uc002etq.4	-	6	1212	c.875A>G	c.(874-876)cAc>cGc	p.H292R	ACD_uc002etp.4_Missense_Mutation_p.H289R|ACD_uc002etr.4_Missense_Mutation_p.H289R|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	292	Interaction with POT1.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCAGCCCAGTGGGTGACAGG	0.607													16	75					0	0	1	0	0	C	67692859	T	C	67692859	3	2	258	1	0	0	0	0	1	0	0	0	135	1696	59	3	783	3	ACD	16	67692859	Missense_Mutation	SNP	T	TCGA-EM-A2OX-01A-11D-A202-08	36318211	67692859	22661894	9	4466											
LYPLAL1	127018	broad.mit.edu	37	chr1	219384958	219384958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctctaggagtgaccaCgaagtttcatagttttccaa	7	8	2	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr1:219384958C>T	uc001hlq.4	+	4	643	c.602C>T	c.(601-603)aCg>aTg	p.T201M	LYPLAL1_uc001hlr.4_Missense_Mutation_p.T185M|LYPLAL1_uc001hls.4_Missense_Mutation_p.T77M|LYPLAL1_uc001hlt.4_Missense_Mutation_p.T77M|LYPLAL1_uc009xds.3_Missense_Mutation_p.T150M	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	Homo sapiens lysophospholipase-like 1 (LYPLAL1), mRNA.	201						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GGAGTGACCACGAAGTTTCAT	0.373													15	64					0	0	1	0	0	T	219384958	C	T	219384958	3	4	259	1	0	0	0	0	1	0	0	0	9118	536	19	1	620	1	LYPLAL1	1	219384958	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08		219384958	29865663	1	4467											
EHBP1	23301	broad.mit.edu	37	chr2	62934336	62934336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgatcatcatggcttcaGtttggaagagactgcagcgt	12	8	3	2			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:62934336G>T	uc002sby.3	+	1	492	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F	EHBP1_uc010fcp.3_Missense_Mutation_p.V4F|EHBP1_uc010fcq.1_Missense_Mutation_p.V4F|EHBP1_uc002sbx.2_Missense_Mutation_p.V4F|EHBP1_uc002sbz.3_Missense_Mutation_p.V4F|EHBP1_uc002scb.3_Missense_Mutation_p.V4F|EHBP1_uc002sca.3_Missense_Mutation_p.V4F	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	4						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CATGGCTTCAGTTTGGAAGAG	0.463													19	36					0	0	1	0	0	T	62934336	G	T	62934336	3	4	259	1	0	0	0	0	1	0	0	0	4975	1029	36	4	12	4	EHBP1	2	62934336	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08		62934336	180265037	2	4468											
ETAA1	54465	broad.mit.edu	37	chr2	67630066	67630066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctattccttgtactcccagtGtagcaaaaggaaaatcaaga	7	9	1	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:67630066G>T	uc002sdz.1	+	3	641	c.502G>T	c.(502-504)Gta>Tta	p.V168L		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	168						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TACTCCCAGTGTAGCAAAAGG	0.353													3	51					0	0	1	0	0	T	67630066	G	T	67630066	3	4	259	1	0	0	0	0	1	0	0	0	5267	1377	48	4	516	4	ETAA1	2	67630066	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08	4695730	67630066	175569307	3	4469											
C2orf83	56918	broad.mit.edu	37	chr2	228476316	228476316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcccgcatgtctgtaCggtaagtttcctcatccctg	10	13	3	0	rs111332429	byFrequency	TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:228476316C>T	uc002vph.3	-	2	482	c.247G>A	c.(247-249)Gta>Ata	p.V83I	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	83						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CATGTCTGTACGGTAAGTTTC	0.468													6	55					0	0	1	0	0	T	228476316	C	T	228476316	3	4	259	1	0	0	0	0	1	0	0	0	2198	536	19	1	209	1	C2orf83	2	228476316	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08	160846250	228476316	14723057	4	4470											
AP3B1	8546	broad.mit.edu	37	chr5	77311327	77311327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagtgaaattctgtggtGcagcaatgattacagcagaa	13	5	1	3			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr5:77311327G>A	uc003kfj.3	-	25	3163	c.3038C>T	c.(3037-3039)gCa>gTa	p.A1013V		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	1013					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATTCTGTGGTGCAGCAATGAT	0.383									Hermansky-Pudlak syndrome				24	75					0	0	1	0	0	A	77311327	G	A	77311327	3	1	259	1	0	0	0	0	1	0	0	0	744	1319	46	2	254	2	AP3B1	5	77311327	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08		77311327	103603933	5	4471											
COL12A1	1303	broad.mit.edu	37	chr6	75843113	75843113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagattcctaagaatggcaTaattggtattcccggggatt	11	7	0	2			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr6:75843113T>C	uc021zbv.1	-	32	5725	c.5690A>G	c.(5689-5691)tAt>tGt	p.Y1897C	COL12A1_uc021zbw.1_Missense_Mutation_p.Y733C|COL12A1_uc003phs.3_Missense_Mutation_p.Y1897C|COL12A1_uc003pht.3_Missense_Mutation_p.Y733C	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1897	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGAATGGCATAATTGGTATT	0.368													17	39					0	0	1	0	0	C	75843113	T	C	75843113	3	2	259	1	0	0	0	0	1	0	0	0	3669	1406	49	3	3633	3	COL12A1	6	75843113	Missense_Mutation	SNP	T	TCGA-EM-A2OY-01A-11D-A202-08		75843113	95271954	6	4472											
GPR141	353345	broad.mit.edu	37	chr7	37780300	37780300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacatccacatgtacctcaCgttcctattctatgtggtga	7	12	2	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr7:37780300C>T	uc003tfm.1	+	0	305	c.305C>T	c.(304-306)aCg>aTg	p.T102M	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	102						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T102T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGTACCTCACGTTCCTATTC	0.473													22	78					0	0	1	0	0	T	37780300	C	T	37780300	3	4	259	1	0	0	0	0	1	0	0	0	6649	536	19	1	307	1	GPR141	7	37780300	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08		37780300	121358363	7	4473											
CNPY4	245812	broad.mit.edu	37	chr7	99720117	99720117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacagagagacaaggctgGaagaggccttagagaattta	12	7	0	4			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr7:99720117G>A	uc003uto.3	+	2	362	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	TAF6_uc011kji.2_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.	87						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACAAGGCTGGAAGAGGCCTT	0.537													53	249					0	0	1	0	0	A	99720117	G	A	99720117	3	1	259	1	0	0	0	0	1	0	0	0	3630	1175	41	2	269	2	CNPY4	7	99720117	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08	61939817	99720117	59418546	8	4474											
TLL2	7093	broad.mit.edu	37	chr10	98155751	98155751	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agattgaatctgaccggcatCtttgttcatgtctcccccgc	8	13	4	3			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr10:98155751C>T	uc001kml.2	-	11	1652	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	TLL2_uc009xvf.2_Missense_Mutation_p.D449N	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	471	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGACCGGCATCTTTGTTCATG	0.517											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	94					0	0	1	0	0	T	98155751	C	T	98155751	3	4	259	1	0	0	0	0	1	0	0	0	15943	913	32	2	1676	2	TLL2	10	98155751	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08		98155751	37378996	9	4475											
UBQLN3	50613	broad.mit.edu	37	chr11	5528997	5528997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaactaaatcttgcagcaTatggagaaagggaggggaaa	12	5	1	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr11:5528997T>C	uc001may.1	-	1	1878	c.1792A>G	c.(1792-1794)Atg>Gtg	p.M598V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc021qcw.1_Missense_Mutation_p.M598V	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	598										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTGCAGCATATGGAGAAAG	0.542													59	40					0	0	1	0	0	C	5528997	T	C	5528997	3	2	259	1	0	0	0	0	1	0	0	0	16895	1406	49	3	179	3	UBQLN3	11	5528997	Missense_Mutation	SNP	T	TCGA-EM-A2OY-01A-11D-A202-08		5528997	129477519	10	4476											
LRTM2	654429	broad.mit.edu	37	chr12	1940261	1940261	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acccgaaccctcttgctcttGaacaataagctgagtgccct	7	14	2	2			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr12:1940261G>A	uc001qjt.2	+	3	1034	c.228G>A	c.(226-228)ttG>ttA	p.L76L	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.L76L|LRTM2_uc010sdx.1_Silent_p.L76L|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	76						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TCTTGCTCTTGAACAATAAGC	0.642													60	192					0	0	1	0	0	A	1940261	G	A	1940261	2	1	259	1	0	0	0	0	0	0	0	1	9045	1281	45	2		2	LRTM2	12	1940261	Silent	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08		1940261	131911634	11	4477											
C14orf109	26175	broad.mit.edu	37	chr14	93652904	93652904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacaagagctgatcccaAaacagtgggctactgtatca	9	9	1	2			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr14:93652904A>G	uc010auo.3	+	1	756	c.398A>G	c.(397-399)aAa>aGa	p.K133R	MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc001ybk.4_Missense_Mutation_p.K95R|C14orf109_uc021sax.1_Missense_Mutation_p.K95R	NM_001098621	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 1, mRNA.	127						integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GCTGATCCCAAAACAGTGGGC	0.418													5	239					0	0	1	0	0	G	93652904	A	G	93652904	3	3	259	1	0	0	0	0	1	0	0	0	1739	14	1	3	404	3	C14orf109	14	93652904	Missense_Mutation	SNP	A	TCGA-EM-A2OY-01A-11D-A202-08		93652904	13696636	12	4478											
FUK	197258	broad.mit.edu	37	chr16	70509259	70509259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccttctgcaggggcccTgctgaaggcggccttcatct	12	14	3	1			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr16:70509259T>C	uc010cft.3	+	18	2538	c.2480T>C	c.(2479-2481)cTg>cCg	p.L827P	FUK_uc002eyy.3_Missense_Mutation_p.L795P|FUK_uc002eyz.3_Missense_Mutation_p.L286P	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	795						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCAGGGGCCCTGCTGAAGGCG	0.627													3	86					0	0	1	0	0	C	70509259	T	C	70509259	3	2	259	1	0	0	0	0	1	0	0	0	6096	1580	55	3	2454	3	FUK	16	70509259	Missense_Mutation	SNP	T	TCGA-EM-A2OY-01A-11D-A202-08		70509259	19845494	13	4479											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334209	39334209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtggtcctgcagcAagtggtctggcagcagctgg	17	10	1	0			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr17:39334209A>G	uc002hwd.3	-	0	252	c.208T>C	c.(208-210)Tgc>Cgc	p.C70R		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.	70	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTCCTGCAGCAAGTGGTCTGG	0.672													24	148					0	0	1	0	0	G	39334209	A	G	39334209	3	3	259	1	0	0	0	0	1	0	0	0	8551	130	5	3	206	3	KRTAP4-2	17	39334209	Missense_Mutation	SNP	A	TCGA-EM-A2OY-01A-11D-A202-08		39334209	41861001	14	4480											
SHROOM2	357	broad.mit.edu	37	chrX	9862838	9862838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcccctgggaggtccaAttttgggccagtctggtatg	15	10	1	0			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chrX:9862838A>G	uc004csu.1	+	3	980	c.890A>G	c.(889-891)aAt>aGt	p.N297S		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	297					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGGAGGTCCAATTTTGGGCCA	0.612													17	65					0	0	1	0	0	G	9862838	A	G	9862838	3	3	259	1	0	0	0	0	1	0	0	0	14294	101	4	3	904	3	SHROOM2	23	9862838	Missense_Mutation	SNP	A	TCGA-EM-A2OY-01A-11D-A202-08		9862838	145407722	15	4481											
PRDM16	63976	broad.mit.edu	37	chr1	3328631	3328642	+	In_Frame_Del	DEL	GACCTGGACAGC	GACCTGGACAGC	-													cgaccacggggacgggctcgGacctggacagcgacgtggac							TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr1:3328631_3328642delGACCTGGACAGC	uc001akf.3	+	8	1952_1963	c.1870_1881delGACCTGGACAGC	c.(1870-1881)gacctggacagcdel	p.DLDS624del	PRDM16_uc001ake.3_In_Frame_Del_p.DLDS624del|PRDM16_uc009vlh.3_In_Frame_Del_p.DLDS325del|PRDM16_uc001akc.3_In_Frame_Del_p.DLDS624del	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	624					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D624Y(2)|p.L625M(2)|p.S623S(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGGGCTCGGACCTGGACAGCGACGTGGACA	0.679			T	EVI1	"MDS, AML"								32	72	---	---	---	---						-	3328642	GACCTGGACAGC	-	3328631	7	5	260	1	0	1	0	1	0	0	0	0	12457	1174	41	0	1904	0	PRDM16	1	3328631	In_Frame_Del	DEL	GACCTGGACAGC	TCGA-EM-A2OZ-01A-11D-A202-08		3328631	245921990	1	4482											
MPV17	4358	broad.mit.edu	37	chr2	27535568	27535568	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatccaacaacatcttcttCagtgcatccactttggtggt	7	11	3	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:27535568C>T	uc002rjr.3	-	2	305	c.258G>A	c.(256-258)ctG>ctA	p.L86L	MPV17_uc002rjs.3_Silent_p.L86L|MPV17_uc002rjt.3_Non-coding_Transcript	NM_002437	NP_002428	P39210	MPV17_HUMAN	Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.	86					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATCTTCTTCAGTGCATCCA	0.527													5	43					0	0	1	0	0	T	27535568	C	T	27535568	2	4	260	1	0	0	0	0	0	0	0	1	9745	813	29	2		2	MPV17	2	27535568	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		27535568	215663805	2	4483											
FAM117B	150864	broad.mit.edu	37	chr2	203620264	203620264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcccattttcttaaggctCctgttccaaagagtgcactt	6	12	1	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:203620264C>T	uc010zhx.2	+	4	974	c.964C>T	c.(964-966)Cct>Tct	p.P322S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	322										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCTTAAGGCTCCTGTTCCAAA	0.398													9	132					0	0	1	0	0	T	203620264	C	T	203620264	3	4	260	1	0	0	0	0	1	0	0	0	5410	855	30	2	982	2	FAM117B	2	203620264	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	176084696	203620264	39579109	3	4484											
ABCA12	26154	broad.mit.edu	37	chr2	215819926	215819926	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaaataagggaccttacCggatcattaggcttttcctt	8	9	1	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:215819926C>T	uc002vew.3	-	43	6613	c.6393_splice	c.e43+1	p.P2131_splice	ABCA12_uc002vev.3_Splice_Site_p.P1813_splice|ABCA12_uc010zjn.2_Splice_Site_p.P1058_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2131					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGACCTTACCGGATCATTAG	0.338													13	28					0	0	1	0	0	T	215819926	C	T	215819926	5	4	260	1	0	0	0	0	0	0	1	0	30	666	23	1	1438	1	ABCA12	2	215819926	Splice_Site	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	12199662	215819926	27379447	4	4485											
GPC1	2817	broad.mit.edu	37	chr2	241402796	241402796	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccggagtgctcgagagctgtCatgaagctggtctactgtgc	14	10	2	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:241402796C>G	uc002vyw.4	+	3	971	c.750C>G	c.(748-750)gtC>gtG	p.V250V		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	250					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CGAGAGCTGTCATGAAGCTGG	0.682													9	78					0	0	1	0	0	G	241402796	C	G	241402796	2	3	260	1	0	0	0	0	0	0	0	1	6597	813	29	4		4	GPC1	2	241402796	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	25582870	241402796	1796577	5	4486											
ABHD6	57406	broad.mit.edu	37	chr3	58260481	58260481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgatcccgtctacccCagaagagatgagtgaaatgc	9	12	1	5			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:58260481C>G	uc003djs.4	+	5	1030	c.620C>G	c.(619-621)cCa>cGa	p.P207R	ABHD6_uc003djt.4_Missense_Mutation_p.P207R	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	207						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CCGTCTACCCCAGAAGAGATG	0.542													10	104					0	0	1	0	0	G	58260481	C	G	58260481	3	3	260	1	0	0	0	0	1	0	0	0	86	594	21	4	638	4	ABHD6	3	58260481	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		58260481	139761949	6	4487											
CHST2	9435	broad.mit.edu	37	chr3	142840198	142840198	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctctggctcgtcgttcttCggcgagctattcaaccagaa	10	13	3	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:142840198C>T	uc003evm.3	+	1	1479	c.540C>T	c.(538-540)ttC>ttT	p.F180F	CHST2_uc021xex.1_Silent_p.F180F	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	180					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CGTCGTTCTTCGGCGAGCTAT	0.622													5	56					0	0	1	0	0	T	142840198	C	T	142840198	2	4	260	1	0	0	0	0	0	0	0	1	3404	883	31	1		1	CHST2	3	142840198	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	84579717	142840198	55182232	7	4488											
IL12A	3592	broad.mit.edu	37	chr3	159713292	159713292	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatacttcttcatgctttCagaattcgggcagtgactat	8	9	3	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:159713292C>T	uc003fcx.3	+	6	929	c.708C>T	c.(706-708)ttC>ttT	p.F236F	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	202					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCATGCTTTCAGAATTCGGG	0.388													8	97					0	0	1	0	0	T	159713292	C	T	159713292	2	4	260	1	0	0	0	0	0	0	0	1	7624	825	29	2		2	IL12A	3	159713292	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	16873094	159713292	38309138	8	4489											
FNIP2	57600	broad.mit.edu	37	chr4	159789776	159789776	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcaccgcaagatggctcttCaagacttcccagctgtgaag	11	12	2	3			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr4:159789776C>G	uc003iqe.4	+	12	2171	c.1988C>G	c.(1987-1989)tCa>tGa	p.S663*		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	663	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GATGGCTCTTCAAGACTTCCC	0.522													4	19					0	0	1	0	0	G	159789776	C	G	159789776	4	3	260	1	0	0	0	0	0	1	0	0	5976	838	29	4	2038	4	FNIP2	4	159789776	Nonsense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		159789776	31364500	9	4490											
C5orf42	65250	broad.mit.edu	37	chr5	37173962	37173962	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcttctgaggtgttggAgcaggtggttgtgaagcaac	17	5	2	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:37173962A>C	uc011cpa.1	-	31	6297	c.6066T>G	c.(6064-6066)gcT>gcG	p.A2022A	C5orf42_uc011coy.1_Silent_p.A522A|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.A1097A|C5orf42_uc003jkr.1_Silent_p.A55A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2022										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGGTGTTGGAGCAGGTGGTT	0.423													10	61					0	0	1	0	0	C	37173962	A	C	37173962	2	2	260	1	0	0	0	0	0	0	0	1	2301	291	11	5		5	C5orf42	5	37173962	Silent	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08		37173962	143741298	10	4491											
ARAP3	64411	broad.mit.edu	37	chr5	141039378	141039378	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatgtagccatcaatgagctCttgcagcactcgcacctcgt	9	13	2	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:141039378C>G	uc003llm.3	-	21	3313	c.3235G>C	c.(3235-3237)Gag>Cag	p.E1079Q	ARAP3_uc003lll.3_Missense_Mutation_p.E30Q|ARAP3_uc011dbe.2_Missense_Mutation_p.E741Q|ARAP3_uc003lln.3_Missense_Mutation_p.E910Q	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1079	Rho-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCAATGAGCTCTTGCAGCACT	0.567													3	19					0	0	1	0	0	G	141039378	C	G	141039378	3	3	260	1	0	0	0	0	1	0	0	0	840	922	32	4	1447	4	ARAP3	5	141039378	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	103865416	141039378	39875882	11	4492											
SYNPO	11346	broad.mit.edu	37	chr5	150036179	150036179	+	Frame_Shift_Del	DEL	C	C	-													gacctgagaccgaggcgcggCcccccagccgccagctgcag							TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:150036179delC	uc003lsp.3	+	2	2784	c.2242delC	c.(2242-2244)cccfs	p.P748fs		NM_007286	NP_009217	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 1, mRNA.	807					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGGCGCGGCCCCCCAGCCG	0.756													2	4	---	---	---	---						-	150036179	C	-	150036179	7	5	260	1	0	1	0	1	0	0	0	0	15453	739	26	0	3014	0	SYNPO	5	150036179	Frame_Shift_Del	DEL	C	TCGA-EM-A2OZ-01A-11D-A202-08	8996801	150036179	30879081	12	4493											
NPC1L1	29881	broad.mit.edu	37	chr7	44575963	44575963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggccagacgggggtcCccggcagggtaattgttgag	18	10	0	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr7:44575963C>T	uc003tlb.3	-	3	1802	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G	NPC1L1_uc011kbw.2_Silent_p.G582G|NPC1L1_uc003tlc.3_Silent_p.G582G|NPC1L1_uc003tld.3_Silent_p.G582G	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	582					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.A581T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACGGGGGTCCCCGGCAGGGT	0.572													5	59					0	0	1	0	0	T	44575963	C	T	44575963	2	4	260	1	0	0	0	0	0	0	0	1	10571	610	22	2		2	NPC1L1	7	44575963	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		44575963	114562700	13	4494											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	260	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08	95877173	140453136	18685527	14	4495											
COL15A1	1306	broad.mit.edu	37	chr9	101749591	101749591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggctccctccagcagCtcaccgtgcaccccgacccc	8	23	1	0			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr9:101749591C>T	uc004azb.1	+	3	870	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	222	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTCCAGCAGCTCACCGTGCA	0.597													75	138					0	0	1	0	0	T	101749591	C	T	101749591	3	4	260	1	0	0	0	0	1	0	0	0	3672	797	28	2	678	2	COL15A1	9	101749591	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		101749591	39463840	15	4496											
DLG5	9231	broad.mit.edu	37	chr10	79593779	79593779	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcacggtcccgctcccgcctCaggttgtcacacagtgtcct	10	17	2	0			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:79593779C>G	uc001jzk.3	-	8	1711	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L	DLG5_uc001jzj.3_Silent_p.L302L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.L151L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	547					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCCCGCCTCAGGTTGTCAC	0.632													3	22					0	0	1	0	0	G	79593779	C	G	79593779	2	3	260	1	0	0	0	0	0	0	0	1	4558	813	29	4		4	DLG5	10	79593779	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		79593779	55940968	16	4497											
MGMT	4255	broad.mit.edu	37	chr10	131506231	131506231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgcagtgcacagcctggctGaatgcctatttccaccagcc	9	14	0	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:131506231G>A	uc001lkh.2	+	2	317	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	97										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CAGCCTGGCTGAATGCCTATT	0.602								Direct reversal of damage					7	64					0	0	1	0	0	A	131506231	G	A	131506231	2	1	260	1	0	0	0	0	0	0	0	1	9557	1277	45	2		2	MGMT	10	131506231	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	51912452	131506231	4028516	17	4498											
FRY	10129	broad.mit.edu	37	chr13	32747677	32747677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgtttattgccctgggGcagcctgaggtatggattag	15	7	0	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr13:32747677G>A	uc001utx.3	+	18	2821	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGCCCTGGGGCAGCCTGAGG	0.383													7	80					0	0	1	0	0	A	32747677	G	A	32747677	2	1	260	1	0	0	0	0	0	0	0	1	6063	1190	42	2		2	FRY	13	32747677	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		32747677	82422201	18	4499											
AHNAK2	113146	broad.mit.edu	37	chr14	105418953	105418953	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttccgccttggggcctttCaggtccagcttggggccctt	12	14	1	0			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr14:105418953C>G	uc010axc.1	-	6	2955	c.2835G>C	c.(2833-2835)ctG>ctC	p.L945L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L845L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	945						nucleus		p.L945L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602													22	186					0	0	1	0	0	G	105418953	C	G	105418953	2	3	260	1	0	0	0	0	0	0	0	1	415	813	29	4		4	AHNAK2	14	105418953	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		105418953	1930587	19	4500											
SCG3	29106	broad.mit.edu	37	chr15	51984517	51984517	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaatttctatgcgctactGaaaagtattgattcaggtaa	7	7	2	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr15:51984517G>A	uc002abh.3	+	6	1255	c.852G>A	c.(850-852)ctG>ctA	p.L284L	SCG3_uc010ufz.2_Silent_p.L52L	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	284					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATGCGCTACTGAAAAGTATTG	0.383													7	76					0	0	1	0	0	A	51984517	G	A	51984517	2	1	260	1	0	0	0	0	0	0	0	1	13892	1277	45	2		2	SCG3	15	51984517	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		51984517	50546875	20	4501											
RHOT2	89941	broad.mit.edu	37	chr16	720708	720708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccaggcgctgacgcgcAtcttcaggctctcagatcag	12	15	4	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:720708A>G	uc002cip.3	+	8	691	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	RHOT2_uc002ciq.3_Missense_Mutation_p.I85V|RHOT2_uc010bqy.3_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	192	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCTGACGCGCATCTTCAGGCT	0.682													9	91					0	0	1	0	0	G	720708	A	G	720708	3	3	260	1	0	0	0	0	1	0	0	0	13344	217	8	3	608	3	RHOT2	16	720708	Missense_Mutation	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08		720708	89634045	21	4502											
UQCRC2	7385	broad.mit.edu	37	chr16	21974204	21974204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctttcagaatccgcagaCtcgtaagtacatttccagat	8	11	1	3			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:21974204C>T	uc002djx.3	+	5	648	c.512C>T	c.(511-513)aCt>aTt	p.T171I	UQCRC2_uc002djz.1_Missense_Mutation_p.T38I	NM_003366	NP_003357	P22695	QCR2_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.	171					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AATCCGCAGACTCGTAAGTAC	0.373													11	43					0	0	1	0	0	T	21974204	C	T	21974204	3	4	260	1	0	0	0	0	1	0	0	0	17017	565	20	2	534	2	UQCRC2	16	21974204	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	21253496	21974204	68380549	22	4503											
STX1B	112755	broad.mit.edu	37	chr16	31012260	31012260	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	actcctcacctttcaatttgGaccgaaccttgttggccgtc	7	14	2	0			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:31012260G>C	uc010cad.2	-	3	381	c.269C>G	c.(268-270)tCc>tGc	p.S90C	STX1B_uc010vfd.2_Missense_Mutation_p.S90C	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	90					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTTCAATTTGGACCGAACCTT	0.562													4	60					0	0	1	0	0	C	31012260	G	C	31012260	3	2	260	1	0	0	0	0	1	0	0	0	15343	1174	41	4	625	4	STX1B	16	31012260	Missense_Mutation	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	9038056	31012260	59342493	23	4504											
FTO	79068	broad.mit.edu	37	chr16	53968001	53968001	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcactgcacgccagaacctGaggagagaatggcatgccag	12	12	1	3			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:53968001G>A	uc002ehr.3	+	7	1566	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	FTO_uc010vha.2_Silent_p.L152L|FTO_uc010cbz.3_Silent_p.L49L|FTO_uc002ehs.3_Non-coding_Transcript	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	Homo sapiens fat mass and obesity associated (FTO), mRNA.	448					DNA dealkylation involved in DNA repair|RNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAACCTGAGGAGAGAAT	0.478													7	39					0	0	1	0	0	A	53968001	G	A	53968001	2	1	260	1	0	0	0	0	0	0	0	1	6086	1277	45	2		2	FTO	16	53968001	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	22955741	53968001	36386752	24	4505											
CTCF	10664	broad.mit.edu	37	chr16	67663378	67663378	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatggaggagaaacgaagaaGagtaaacgtggaagaaaaag	14	2	0	4			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:67663378G>C	uc002etl.3	+	9	2223	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	CTCF_uc010cek.3_Missense_Mutation_p.K265N|CTCF_uc002etm.1_Missense_Mutation_p.K82N	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	593					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAACGAAGAAGAGTAAACGTG	0.423													4	50					0	0	1	0	0	C	67663378	G	C	67663378	3	2	260	1	0	0	0	0	1	0	0	0	4000	933	33	4	1809	4	CTCF	16	67663378	Missense_Mutation	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	13695377	67663378	22691375	25	4506											
LYZL6	57151	broad.mit.edu	37	chr17	34264854	34264854	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaggccatagtcaaagCttccatctgcattttcattt	8	9	3	1			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr17:34264854C>G	uc002hkj.2	-	1	406	c.206G>C	c.(205-207)aGc>aCc	p.S69T	LYZL6_uc002hkk.2_Missense_Mutation_p.S69T	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	69					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAGTCAAAGCTTCCATCTGC	0.448													8	46					0	0	1	0	0	G	34264854	C	G	34264854	3	3	260	1	0	0	0	0	1	0	0	0	9134	797	28	4	252	4	LYZL6	17	34264854	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		34264854	46930356	26	4507											
TMC2	117532	broad.mit.edu	37	chr20	2552906	2552906	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctatatgcctacaagatgctGatggccaaggtgtgtggggt	14	7	0	2			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:2552906G>A	uc002wgf.1	+	4	651	c.636G>A	c.(634-636)ctG>ctA	p.L212L	TMC2_uc002wgg.1_Silent_p.L196L|TMC2_uc010zpw.1_Silent_p.L44L|TMC2_uc010zpx.1_Silent_p.L43L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	212	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACAAGATGCTGATGGCCAAGG	0.517													5	46					0	0	1	0	0	A	2552906	G	A	2552906	2	1	260	1	0	0	0	0	0	0	0	1	15982	1277	45	2		2	TMC2	20	2552906	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		2552906	60472614	27	4508											
PAK7	57144	broad.mit.edu	37	chr20	9624844	9624844	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttggcctgttggccgtatCtgctaacaggctgtgccact	11	12	1	0			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:9624844C>T	uc002wnl.2	-	3	678	c.133G>A	c.(133-135)Gat>Aat	p.D45N	PAK7_uc002wnk.2_Missense_Mutation_p.D45N|PAK7_uc002wnj.2_Missense_Mutation_p.D45N|PAK7_uc010gby.1_Missense_Mutation_p.D45N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	45	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.A44A(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTGGCCGTATCTGCTAACAGG	0.547													5	42					0	0	1	0	0	T	9624844	C	T	9624844	3	4	260	1	0	0	0	0	1	0	0	0	11405	913	32	2	2058	2	PAK7	20	9624844	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	7071938	9624844	53400676	28	4509											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824683	125824683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcttgtcactgacatacaGggccttgttgatgtccctgg	12	10	1	2			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr3:125824683G>T	uc003eim.1	-	21	2729	c.2539C>A	c.(2539-2541)Ctg>Atg	p.L847M	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.L746M|ALDH1L1_uc003ein.1_Missense_Mutation_p.L382M	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	847	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTGACATACAGGGCCTTGTTG	0.552													5	181					0	0	1	0	0	T	125824683	G	T	125824683	3	4	261	1	0	0	0	0	1	0	0	0	494	991	35	4	177	4	ALDH1L1	3	125824683	Missense_Mutation	SNP	G	TCGA-EM-A2P0-01A-11D-A202-08		125824683	72197747	1	4510											
DNAH8	1769	broad.mit.edu	37	chr6	38980292	38980292	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggaaaagagtgtcttgGgattcgtccacactgggctt	12	9	2	1			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr6:38980292G>A	uc021yzh.1	+	90	13702	c.13593G>A	c.(13591-13593)tgG>tgA	p.W4531*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.W4314*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGTGTCTTGGGATTCGTCCA	0.413													4	159					0	0	1	0	0	A	38980292	G	A	38980292	4	1	261	1	0	0	0	0	0	1	0	0	4607	1241	43	2	13288	2	DNAH8	6	38980292	Nonsense_Mutation	SNP	G	TCGA-EM-A2P0-01A-11D-A202-08		38980292	132134775	2	4511											
SYNE1	23345	broad.mit.edu	37	chr6	152737750	152737750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtcctttgctcagagCtcccgattttcagatggtat	10	9	2	2			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr6:152737750C>A	uc021zhb.1	-	38	6045	c.5822G>T	c.(5821-5823)aGc>aTc	p.S1941I	SYNE1_uc003qot.4_Missense_Mutation_p.S1948I|SYNE1_uc003qou.4_Missense_Mutation_p.S1941I|SYNE1_uc010kjb.1_Missense_Mutation_p.S1924I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1941					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTCAGAGCTCCCGATTTT	0.498										HNSCC(10;0.0054)			4	112					0	0	1	0	0	A	152737750	C	A	152737750	3	1	261	1	0	0	0	0	1	0	0	0	15442	797	28	4	21068	4	SYNE1	6	152737750	Missense_Mutation	SNP	C	TCGA-EM-A2P0-01A-11D-A202-08	113757458	152737750	18377317	3	4512											
MUC17	140453	broad.mit.edu	37	chr7	100675605	100675605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaactcctgctgccaccaAcattcctgtgatcacttcta	4	15	2	1			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr7:100675605A>G	uc003uxp.1	+	2	961	c.908A>G	c.(907-909)aAc>aGc	p.N303S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	303	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGCCACCAACATTCCTGTG	0.493													11	355					0	0	1	0	0	G	100675605	A	G	100675605	3	3	261	1	0	0	0	0	1	0	0	0	9974	43	2	3	918	3	MUC17	7	100675605	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08		100675605	58463058	4	4513											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	42					0	0	1	0	0	T	140453136	A	T	140453136	3	4	261	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08	39777531	140453136	18685527	5	4514											
NETO2	81831	broad.mit.edu	37	chr16	47117466	47117466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgtccaattcttccgacAagtctgccaggtctgcagaa	9	11	3	1			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr16:47117466A>C	uc002eer.2	-	8	1657	c.1244T>G	c.(1243-1245)tTg>tGg	p.L415W	NETO2_uc002eeq.2_Missense_Mutation_p.L150W|NETO2_uc010vgf.2_Missense_Mutation_p.L408W	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	415						integral to membrane	receptor activity	p.L415F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTCTTCCGACAAGTCTGCCAG	0.517										HNSCC(25;0.065)			3	145					0	0	1	0	0	C	47117466	A	C	47117466	3	2	261	1	0	0	0	0	1	0	0	0	10340	131	5	5	337	5	NETO2	16	47117466	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08		47117466	43237287	6	4515											
ZFHX3	463	broad.mit.edu	37	chr16	72829160	72829160	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgaaggcagggacaccAgctgggggagcttctgctgg	17	10	1	0			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr16:72829160A>C	uc002fck.3	-	8	8094	c.7421T>G	c.(7420-7422)cTg>cGg	p.L2474R	ZFHX3_uc002fcl.3_Missense_Mutation_p.L1560R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2474					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGGGACACCAGCTGGGGGAG	0.617													4	84					0	0	1	0	0	C	72829160	A	C	72829160	3	2	261	1	0	0	0	0	1	0	0	0	17631	188	7	5	3698	5	ZFHX3	16	72829160	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08	25711694	72829160	17525593	7	4516											
CSMD2	114784	broad.mit.edu	37	chr1	34128590	34128590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtccttgggcagggcCgggccactcagctccttcag	14	14	2	0	rs115110975	byFrequency	TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr1:34128590C>T	uc001bxm.1	-	25	4332	c.4155G>A	c.(4153-4155)ccG>ccA	p.P1385P	CSMD2_uc001bxn.1_Silent_p.P1345P|CSMD2_uc001bxo.1_Silent_p.P258P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1345	Sushi 8.					integral to membrane|plasma membrane	protein binding	p.A1346S(1)|p.P1345P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGCAGGGCCGGGCCACTCA	0.572													7	102					0	0	1	0	0	T	34128590	C	T	34128590	2	4	262	1	0	0	0	0	0	0	0	1	3945	639	23	1		1	CSMD2	1	34128590	Silent	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		34128590	215122031	1	4517											
OTX1	5013	broad.mit.edu	37	chr2	63283329	63283329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcttgccttcaactctgccGactgcttggattacaaggag	11	11	2	0			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr2:63283329G>A	uc021vim.1	+	4	1219	c.943G>A	c.(943-945)Gac>Aac	p.D315N	OTX1_uc002scd.3_Missense_Mutation_p.D315N|OTX1_uc010ypt.2_Missense_Mutation_p.D249N	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	315						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D315E(1)|p.A314A(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CAACTCTGCCGACTGCTTGGA	0.607													15	70					0	0	1	0	0	A	63283329	G	A	63283329	3	1	262	1	0	0	0	0	1	0	0	0	11320	1058	37	1	953	1	OTX1	2	63283329	Missense_Mutation	SNP	G	TCGA-EM-A2P1-01A-11D-A202-08		63283329	179916044	2	4518											
XRN1	54464	broad.mit.edu	37	chr3	142037638	142037638	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacagttcttaccaactgTtgtaaagcaaaaagtgcagc	9	8	1	0			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr3:142037638T>C	uc003eus.3	-	37	4576	c.4509A>G	c.(4507-4509)caA>caG	p.Q1503Q	XRN1_uc010huu.3_Silent_p.Q970Q|XRN1_uc003eut.3_Silent_p.Q1503Q|XRN1_uc003euu.3_Silent_p.Q1504Q	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1503					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTACCAACTGTTGTAAAGCAA	0.363													5	52					0	0	1	0	0	C	142037638	T	C	142037638	2	2	262	1	0	0	0	0	0	0	0	1	17456	1722	60	3		3	XRN1	3	142037638	Silent	SNP	T	TCGA-EM-A2P1-01A-11D-A202-08		142037638	55984792	3	4519											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				9	54					0	0	1	0	0	T	140453136	A	T	140453136	3	4	262	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2P1-01A-11D-A202-08		140453136	18685527	4	4520											
FCGRT	2217	broad.mit.edu	37	chr19	50017183	50017183	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accttaccgcggtgtcctcgCctgccccggggactcctgcc	11	19	0	0			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr19:50017183C>G	uc002poe.2	+	2	604	c.118C>G	c.(118-120)Cct>Gct	p.P40A	FCGRT_uc002pog.2_Missense_Mutation_p.P40A|FCGRT_uc002pof.2_5'UTR|FCGRT_uc010yax.2_Missense_Mutation_p.P40A|FCGRT_uc002poh.2_5'Flank	NM_001136019	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 1, mRNA.	40	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GGTGTCCTCGCCTGCCCCGGG	0.657													49	212					0	0	1	0	0	G	50017183	C	G	50017183	3	3	262	1	0	0	0	0	1	0	0	0	5786	739	26	4	124	4	FCGRT	19	50017183	Missense_Mutation	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		50017183	9111800	5	4521											
GRAMD4	23151	broad.mit.edu	37	chr22	47059056	47059056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggagacagaggaacccCtgagcgcccgcaggtagggg	17	11	0	3	rs145387351		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr22:47059056C>T	uc003bhx.3	+	4	635	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	GRAMD4_uc010had.3_Silent_p.L135L	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	196					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AGAGGAACCCCTGAGCGCCCG	0.657													23	102					0	0	1	0	0	T	47059056	C	T	47059056	2	4	262	1	0	0	0	0	0	0	0	1	6752	680	24	2		2	GRAMD4	22	47059056	Silent	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		47059056	4245510	6	4522											
COL9A2	1298	broad.mit.edu	37	chr1	40767021	40767021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgatctccatccttgcCgttgattgcctggccaggcc	9	17	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr1:40767021C>T	uc001cfh.1	-	31	2015	c.1903G>A	c.(1903-1905)Ggc>Agc	p.G635S	COL9A2_uc001cfi.1_Missense_Mutation_p.G454S	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	635	Triple-helical region 1 (COL1).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCATCCTTGCCGTTGATTGCC	0.637													7	27					0	0	1	0	0	T	40767021	C	T	40767021	3	4	263	1	0	0	0	0	1	0	0	0	3708	652	23	1	170	1	COL9A2	1	40767021	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		40767021	208483600	1	4523											
GSTM3	2947	broad.mit.edu	37	chr1	110280288	110280288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctaccttttccccgGcaaaccatgagaatttcccc	4	16	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr1:110280288G>A	uc001dyo.2	-	6	768	c.458C>T	c.(457-459)gCc>gTc	p.A153V	GSTM3_uc001dyp.2_Missense_Mutation_p.A150V|GSTM3_uc010ovv.2_Missense_Mutation_p.A153V	NM_000849	NP_000840	P21266	GSTM3_HUMAN	Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA.	153	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CTTTTCCCCGGCAAACCATGA	0.433													5	255					0	0	1	0	0	A	110280288	G	A	110280288	3	1	263	1	0	0	0	0	1	0	0	0	6839	1203	42	2	231	2	GSTM3	1	110280288	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	69513267	110280288	138970333	2	4524											
TNN	63923	broad.mit.edu	37	chr1	175048656	175048656	+	Frame_Shift_Del	DEL	C	C	-													gtgggtgccgactgcggctaCccggcctgccctgagaactg							TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr1:175048656delC	uc001gkl.1	+	2	710	c.597delC	c.(595-597)tacfs	p.Y199fs	TNN_uc010pmx.1_Frame_Shift_Del_p.Y199fs	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	199	EGF-like 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACTGCGGCTACCCGGCCTGCC	0.716													2	4	---	---	---	---						-	175048656	C	-	175048656	7	5	263	1	0	1	0	1	0	0	0	0	16320	518	18	0	603	0	TNN	1	175048656	Frame_Shift_Del	DEL	C	TCGA-EM-A2P2-01A-11D-A202-08	64768368	175048656	74201965	3	4525											
EPCAM	4072	broad.mit.edu	37	chr2	47596655	47596655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcgcagcatggcgccccCgcaggtcctcgcgttcgggc	15	18	0	0			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr2:47596655C>T	uc002rvx.3	+	0	369	c.11C>T	c.(10-12)cCg>cTg	p.P4L		NM_002354	NP_002345	P16422	EPCAM_HUMAN	Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA.	4					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						ATGGCGCCCCCGCAGGTCCTC	0.741													2	1					0	0	1	0	0	T	47596655	C	T	47596655	3	4	263	1	0	0	0	0	1	0	0	0	5162	652	23	1	13	1	EPCAM	2	47596655	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		47596655	195602718	4	4526											
ALG3	10195	broad.mit.edu	37	chr3	183963511	183963511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccactcacacaagtggtcCggtgtcaccctgcagttggg	11	15	2	0			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr3:183963511C>T	uc003fne.2	-	1	317	c.286G>A	c.(286-288)Gga>Aga	p.G96R	ALG3_uc011brc.1_Missense_Mutation_p.G61R|ALG3_uc011brd.1_Intron|ALG3_uc011bre.1_Missense_Mutation_p.G48R|ALG3_uc011brf.1_Intron	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	96					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAAGTGGTCCGGTGTCACCC	0.522													19	24					0	0	1	0	0	T	183963511	C	T	183963511	3	4	263	1	0	0	0	0	1	0	0	0	520	661	23	1	1062	1	ALG3	3	183963511	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		183963511	14058919	5	4527											
SPON2	10417	broad.mit.edu	37	chr4	1165191	1165191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcatcagcgcccaggcctCgccgcgctccgcaaagtcgc	10	19	2	0			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr4:1165191C>T	uc021xkj.1	-	4	929	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SPON2_uc003gco.4_Missense_Mutation_p.E102K|SPON2_uc010ibr.3_Missense_Mutation_p.E102K|SPON2_uc003gcm.1_Missense_Mutation_p.E20K	NM_001199021	NP_001185950	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 3, mRNA.	102	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCCCAGGCCTCGCCGCGCTCC	0.701													16	74					0	0	1	0	0	T	1165191	C	T	1165191	3	4	263	1	0	0	0	0	1	0	0	0	15082	893	31	1	707	1	SPON2	4	1165191	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		1165191	189989085	6	4528											
LNX1	84708	broad.mit.edu	37	chr4	54440038	54440038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggtccagcaaagcctgcagGcagatgtggcagatgaggtc	16	9	0	3			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr4:54440038G>C	uc003hag.4	-	1	388	c.132C>G	c.(130-132)tgC>tgG	p.C44W	PDGFRA_uc003haa.3_Intron|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	44						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAGCCTGCAGGCAGATGTGGC	0.567													5	30					0	0	1	0	0	C	54440038	G	C	54440038	3	2	263	1	0	0	0	0	1	0	0	0	8865	1195	42	4	2190	4	LNX1	4	54440038	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	53274847	54440038	136714238	7	4529											
TBCK	93627	broad.mit.edu	37	chr4	107216253	107216253	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgatactatacagtacctCacaggtttcctttctcgaag	6	11	3	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr4:107216253C>T	uc010ilv.2	-	2	629	c.264G>A	c.(262-264)gtG>gtA	p.V88V	TBCK_uc003hye.2_Silent_p.V88V|TBCK_uc003hyc.2_Silent_p.V88V|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Silent_p.V88V	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	88	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TACAGTACCTCACAGGTTTCC	0.383													42	71					0	0	1	0	0	T	107216253	C	T	107216253	2	4	263	1	0	0	0	0	0	0	0	1	15633	813	29	2		2	TBCK	4	107216253	Silent	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08	52776215	107216253	83938023	8	4530											
F2RL2	2151	broad.mit.edu	37	chr5	75914398	75914398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaactcttcaaaagaatttGggggagctccacgaaaggtc	12	8	2	1	rs140813985		TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr5:75914398G>T	uc003kem.3	-	1	319	c.134C>A	c.(133-135)cCa>cAa	p.P45Q	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.P23Q	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	45					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAAGAATTTGGGGGAGCTCC	0.413													4	139					0	0	1	0	0	T	75914398	G	T	75914398	3	4	263	1	0	0	0	0	1	0	0	0	5345	1348	47	4	994	4	F2RL2	5	75914398	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08		75914398	105000862	9	4531											
REV3L	5980	broad.mit.edu	37	chr6	111652902	111652902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaaagctactccattggGggacactgtgatatcatgcc	10	10	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr6:111652902G>A	uc003puy.4	-	23	8352	c.8011C>T	c.(8011-8013)Ccc>Tcc	p.P2671S	REV3L_uc003pux.4_Missense_Mutation_p.P2593S|REV3L_uc003puz.4_Missense_Mutation_p.P2593S|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2671					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACTCCATTGGGGGACACTGTG	0.373								DNA polymerases (catalytic subunits)					7	129					0	0	1	0	0	A	111652902	G	A	111652902	3	1	263	1	0	0	0	0	1	0	0	0	13240	1232	43	2	1417	2	REV3L	6	111652902	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08		111652902	59462165	10	4532											
THEMIS	387357	broad.mit.edu	37	chr6	128135044	128135044	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtctttgacttcgacatctaGactggggaggatgcggatta	13	7	2	2			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr6:128135044G>T	uc011ebt.2	-	3	891	c.742C>A	c.(742-744)Cta>Ata	p.L248I	THEMIS_uc010kfa.3_Missense_Mutation_p.L151I|THEMIS_uc021zfa.1_Missense_Mutation_p.L248I|THEMIS_uc010kfb.3_Missense_Mutation_p.L213I	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	248	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCGACATCTAGACTGGGGAGG	0.343													42	48					0	0	1	0	0	T	128135044	G	T	128135044	3	4	263	1	0	0	0	0	1	0	0	0	15857	933	33	4	1316	4	THEMIS	6	128135044	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	16482142	128135044	42980023	11	4533											
KIAA1549	57670	broad.mit.edu	37	chr7	138597183	138597183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattgctgtaatgatgtactCctgcacagctcttctggcca	9	11	2	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr7:138597183C>T	uc011kql.2	-	2	2951	c.2902G>A	c.(2902-2904)Gag>Aag	p.E968K	KIAA1549_uc011kqj.2_Missense_Mutation_p.E968K	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	968						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATGATGTACTCCTGCACAGCT	0.468			O	BRAF	pilocytic astrocytoma								22	43					0	0	1	0	0	T	138597183	C	T	138597183	3	4	263	1	0	0	0	0	1	0	0	0	8244	864	30	2	3022	2	KIAA1549	7	138597183	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		138597183	20541480	12	4534											
BRAF	673	broad.mit.edu	37	chr7	140477832	140477846	+	In_Frame_Del	DEL	AGGTGTAGGTGCTGT	AGGTGTAGGTGCTGT	-													ttgaaggcttgtaactgctgAggtgtaggtgctgtcacatt							TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr7:140477832_140477846delAGGTGTAGGTGCTGT	uc003vwc.4	-	11	1523_1537	c.1462_1476delACAGCACCTACACCT	c.(1462-1476)acagcacctacacctdel	p.TAPTP488del		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	488	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(4)|p.N486_P490del(3)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAACTGCTGAGGTGTAGGTGCTGTCACATTCAAC	0.358		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	26	---	---	---	---						-	140477846	AGGTGTAGGTGCTGT	-	140477832	7	5	263	1	0	1	0	1	0	0	0	0	1496	291	11	0	852	0	BRAF	7	140477832	In_Frame_Del	DEL	AGGTGTAGGTGCTGT	TCGA-EM-A2P2-01A-11D-A202-08	1880649	140477832	18660831	13	4535											
PTPRD	5789	broad.mit.edu	37	chr9	8501033	8501033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttgggctggtgcaacTaatgtcttgaggaggagctg	16	6	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr9:8501033T>C	uc003zkk.3	-	23	2592	c.1849A>G	c.(1849-1851)Agt>Ggt	p.S617G	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	617	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGGTGCAACTAATGTCTTGA	0.403										TSP Lung(15;0.13)			3	56					0	0	1	0	0	C	8501033	T	C	8501033	3	2	263	1	0	0	0	0	1	0	0	0	12799	1522	53	3	4049	3	PTPRD	9	8501033	Missense_Mutation	SNP	T	TCGA-EM-A2P2-01A-11D-A202-08		8501033	132712398	14	4536											
MPDZ	8777	broad.mit.edu	37	chr9	13138104	13138104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgacctttctccagttcaAtcatatgcagctcgcctgtt	6	12	3	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr9:13138104A>G	uc010mhy.3	-	27	4109	c.4052T>C	c.(4051-4053)aTt>aCt	p.I1351T	MPDZ_uc003zky.4_5'Flank|MPDZ_uc010mib.3_Missense_Mutation_p.I56T|MPDZ_uc010mhx.3_Missense_Mutation_p.I173T|MPDZ_uc011lmm.2_Missense_Mutation_p.I210T|MPDZ_uc003zkz.4_Missense_Mutation_p.I44T|MPDZ_uc010mhz.3_Missense_Mutation_p.I1318T|MPDZ_uc011lmn.2_Missense_Mutation_p.I1318T|MPDZ_uc003zlb.4_Missense_Mutation_p.I1351T|MPDZ_uc010mia.1_Missense_Mutation_p.I1351T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1351	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTCCAGTTCAATCATATGCAG	0.403													13	16					0	0	1	0	0	G	13138104	A	G	13138104	3	3	263	1	0	0	0	0	1	0	0	0	9722	101	4	3	2145	3	MPDZ	9	13138104	Missense_Mutation	SNP	A	TCGA-EM-A2P2-01A-11D-A202-08	4637071	13138104	128075327	15	4537											
COL27A1	85301	broad.mit.edu	37	chr9	117052336	117052336	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtggcccttgatttttcAgggaccaaagggaaagcaag	12	8	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr9:117052336A>G	uc011lxl.2	+	46	4207	c.4207_splice	c.e46-2	p.G1403_splice	COL27A1_uc004bii.3_Splice_Site	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1403	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.?(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGATTTTTCAGGGACCAAAG	0.627													3	67					0	0	1	0	0	G	117052336	A	G	117052336	5	3	263	1	0	0	0	0	0	0	1	0	3685	202	7	3	4387	3	COL27A1	9	117052336	Splice_Site	SNP	A	TCGA-EM-A2P2-01A-11D-A202-08	103914232	117052336	24161095	16	4538											
CLRN3	119467	broad.mit.edu	37	chr10	129676574	129676575	+	Missense_Mutation	DNP	TC	TC	AA													cgagtatccgtaactgtgggTcgttcctttactggtggttg							TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr10:129676574_129676575TC>AA	uc001lka.1	-	2	682_683	c.519_520GA>TT	c.(517-522)acgacc>acTTcc	p.T174S	CLRN3_uc001ljz.1_Missense_Mutation_p.T106S	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	174						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TAACTGTGGGTCGTTCCTTTAC	0.45													61	96					0	0	1	0	0	AA	129676575	TC	AA	129676574	3	1	263	1	0	0	0	0	1	0	0	0	3559	1667	58	5	164	5	CLRN3	10	129676574	Missense_Mutation	DNP	TC	TCGA-EM-A2P2-01A-11D-A202-08		129676574	5858173	17	4539											
LRP4	4038	broad.mit.edu	37	chr11	46920980	46920980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttgcagtcggtgtcacCgtcgcagtaccaatgctcag	10	12	3	0			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr11:46920980C>T	uc001ndn.4	-	4	748	c.505G>A	c.(505-507)Ggt>Agt	p.G169S	LRP4_uc009ylh.2_Missense_Mutation_p.G120S	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	169	LDL-receptor class A 4.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGGTGTCACCGTCGCAGTAC	0.582													5	166					0	0	1	0	0	T	46920980	C	T	46920980	3	4	263	1	0	0	0	0	1	0	0	0	8959	652	23	1	5348	1	LRP4	11	46920980	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		46920980	88085536	18	4540											
FGD4	121512	broad.mit.edu	37	chr12	32793220	32793220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctttaggacgtcagagCccaggccaccattccacttc	7	14	2	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr12:32793220C>T	uc010ske.2	+	16	2474	c.2390C>T	c.(2389-2391)gCc>gTc	p.A797V	FGD4_uc001rlc.3_Missense_Mutation_p.A770V|FGD4_uc001rkz.3_Missense_Mutation_p.A685V|FGD4_uc001rla.3_Missense_Mutation_p.A341V|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	685					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GACGTCAGAGCCCAGGCCACC	0.493													60	111					0	0	1	0	0	T	32793220	C	T	32793220	3	4	263	1	0	0	0	0	1	0	0	0	5835	739	26	2	2112	2	FGD4	12	32793220	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		32793220	101058675	19	4541											
CCNT1	904	broad.mit.edu	37	chr12	49087252	49087252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgatcaaacacagccCctccagtctcttcagagggt	9	13	3	2			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr12:49087252C>A	uc001rsd.4	-	8	2068	c.1745G>T	c.(1744-1746)gGg>gTg	p.G582V	CCNT1_uc009zkz.2_Missense_Mutation_p.G297V|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	582	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AAACACAGCCCCTCCAGTCTC	0.458													41	46					0	0	1	0	0	A	49087252	C	A	49087252	3	1	263	1	0	0	0	0	1	0	0	0	2934	623	22	4	439	4	CCNT1	12	49087252	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08	16294032	49087252	84764643	20	4542											
COL4A2	1284	broad.mit.edu	37	chr13	111160356	111160356	+	Frame_Shift_Del	DEL	T	T	-													accctggtgatgtctgctacTatgccagccggaacgacaag							TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr13:111160356delT	uc001vqx.3	+	46	4958	c.4669delT	c.(4669-4671)tatfs	p.Y1557fs		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1557	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGTCTGCTACTATGCCAGCCG	0.622													57	103	---	---	---	---						-	111160356	T	-	111160356	7	5	263	1	0	1	0	1	0	0	0	0	3690	1522	53	0	4851	0	COL4A2	13	111160356	Frame_Shift_Del	DEL	T	TCGA-EM-A2P2-01A-11D-A202-08		111160356	4009522	21	4543											
UBR1	197131	broad.mit.edu	37	chr15	43270075	43270076	+	Splice_Site	INS	-	-	A													aacaaaattactgaacacttINSaccaaaacatgaaacagatc							TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr15:43270075_43270076insA	uc001zqq.3	-	38	4284	c.4218_splice	c.e38+1	p.L1406_splice		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1406					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACTGAACACTTACCAAAACATG	0.287													42	53	---	---	---	---						A	43270076	-	A	43270075	8	5	263	1	0	1	1	0	0	0	1	0	16898	1769	61	0		0	UBR1	15	43270075	Splice_Site	INS	-	TCGA-EM-A2P2-01A-11D-A202-08		43270075	59261317	22	4544											
CEP152	22995	broad.mit.edu	37	chr15	49052457	49052457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagcattttgcacagctaTttctacctgtaggacattgc	8	9	1	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr15:49052457T>C	uc001zwz.3	-	18	2762	c.2569A>G	c.(2569-2571)Ata>Gta	p.I857V	CEP152_uc001zwy.3_Missense_Mutation_p.I857V|CEP152_uc001zxa.2_Missense_Mutation_p.I764V	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	857					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGCACAGCTATTTCTACCTGT	0.378													35	60					0	0	1	0	0	C	49052457	T	C	49052457	3	2	263	1	0	0	0	0	1	0	0	0	3248	1493	52	3	2427	3	CEP152	15	49052457	Missense_Mutation	SNP	T	TCGA-EM-A2P2-01A-11D-A202-08	5782382	49052457	53478935	23	4545											
WDR59	79726	broad.mit.edu	37	chr16	74919593	74919593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacaggagacaaacttcaAcacttcagctcgcttctctc	7	13	3	1			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr16:74919593A>C	uc002fdh.1	-	24	2749	c.2647T>G	c.(2647-2649)Ttg>Gtg	p.L883V	WDR59_uc002fdf.1_Missense_Mutation_p.L328V|WDR59_uc002fdg.1_Missense_Mutation_p.L475V	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	883										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACAAACTTCAACACTTCAGCT	0.458													27	60					0	0	1	0	0	C	74919593	A	C	74919593	3	2	263	1	0	0	0	0	1	0	0	0	17305	40	2	5	285	5	WDR59	16	74919593	Missense_Mutation	SNP	A	TCGA-EM-A2P2-01A-11D-A202-08		74919593	15435160	24	4546											
DNAH9	1770	broad.mit.edu	37	chr17	11607602	11607602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaaggctatgagagtgCcatgaaggactattataaga	14	4	0	3			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr17:11607602C>T	uc002gne.3	+	24	5302	c.5234C>T	c.(5233-5235)gCc>gTc	p.A1745V	DNAH9_uc010coo.3_Missense_Mutation_p.A1039V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1745	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1745V(2)|p.S1744N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGAGAGTGCCATGAAGGAC	0.522													7	105					0	0	1	0	0	T	11607602	C	T	11607602	3	4	263	1	0	0	0	0	1	0	0	0	4608	739	26	2	5332	2	DNAH9	17	11607602	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		11607602	69587608	25	4547											
MLL2	8085	broad.mit.edu	37	chr19	36219029	36219029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgttcggctggttcgacGcccacgaccccaagtactgg	12	15	0	0			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr19:36219029G>A	uc021usv.1	+	18	4528	c.4528G>A	c.(4528-4530)Gcc>Acc	p.A1510T	MLL2_uc021usu.1_Missense_Mutation_p.A324T	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTGGTTCGACGCCCACGACCC	0.627			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			7	10					0	0	1	0	0	A	36219029	G	A	36219029	3	1	263	1	0	0	0	0	1	0	0	0	9621	1087	38	1		1	MLL2	19	36219029	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08		36219029	22909954	26	4548											
FABP3	2170	broad.mit.edu	37	chr1	31845844	31845844	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccactagcttccaggtgccCaggaaagcgtccaccatagt	9	14	0	0			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:31845844C>A	uc001bss.1	-	0	80	c.18G>T	c.(16-18)ctG>ctT	p.L6L		NM_004102	NP_004093	P05413	FABPH_HUMAN	Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA.	6					negative regulation of cell proliferation			p.L6R(1)		large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		TCCAGGTGCCCAGGAAAGCGT	0.612													4	50					0	0	1	0	0	A	31845844	C	A	31845844	2	1	264	1	0	0	0	0	0	0	0	1	5358	581	21	4		4	FABP3	1	31845844	Silent	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		31845844	217404777	1	4549											
FLG	2312	broad.mit.edu	37	chr1	152285608	152285608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcttcatgatgacgtgacCctgagtgcctggtgccgtct	12	11	2	4			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:152285608C>T	uc001ezu.1	-	2	1790	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	585	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACGTGACCCTGAGTGCCT	0.562									Ichthyosis				26	356					0	0	1	0	0	T	152285608	C	T	152285608	3	4	264	1	0	0	0	0	1	0	0	0	5922	623	22	2	10435	2	FLG	1	152285608	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08	120439764	152285608	96965013	2	4550											
BOC	91653	broad.mit.edu	37	chr3	113005568	113005568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgaagaggtggacagTcctgactcctgccaagtgag	13	10	0	4			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr3:113005568T>G	uc003dzz.3	+	19	3546	c.3207T>G	c.(3205-3207)agT>agG	p.S1069R	BOC_uc003dzx.3_Missense_Mutation_p.S1068R|BOC_uc003dzy.3_Missense_Mutation_p.S1068R|BOC_uc003eab.3_Missense_Mutation_p.S769R|BOC_uc003eac.3_Missense_Mutation_p.S383R	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	1068					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGGTGGACAGTCCTGACTCCT	0.597													4	303					0	0	1	0	0	G	113005568	T	G	113005568	3	3	264	1	0	0	0	0	1	0	0	0	1481	1664	58	5	3274	5	BOC	3	113005568	Missense_Mutation	SNP	T	TCGA-EM-A2P3-01A-11D-A202-08		113005568	85016862	3	4551											
SLC7A11	23657	broad.mit.edu	37	chr4	139157528	139157528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaaaagctggtaatggacCaaagacttccaaaatatatg	7	7	0	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:139157528C>A	uc021xrw.1	-	1	635	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	119					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GGTAATGGACCAAAGACTTCC	0.338													20	49					0	0	1	0	0	A	139157528	C	A	139157528	3	1	264	1	0	0	0	0	1	0	0	0	14694	594	21	4	1194	4	SLC7A11	4	139157528	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		139157528	51996748	4	4552											
SORBS2	8470	broad.mit.edu	37	chr4	186578641	186578641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccctgggtaatgcggggcTttgatgactgtcactctctt	11	10	2	2			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:186578641T>C	uc003iyg.3	-	4	494	c.462A>G	c.(460-462)aaA>aaG	p.K154K	SORBS2_uc003iyh.3_Silent_p.K247K|SORBS2_uc011ckw.2_Silent_p.K137K|SORBS2_uc003iyi.3_Silent_p.K154K|SORBS2_uc011ckx.2_Silent_p.K114K|SORBS2_uc003iyk.3_Silent_p.K154K|SORBS2_uc003iym.3_Silent_p.K168K|SORBS2_uc003iyl.3_Silent_p.K68K|SORBS2_uc003iyn.1_Silent_p.K114K|SORBS2_uc011cky.1_Silent_p.K131K|SORBS2_uc011cku.2_5'Flank|SORBS2_uc011ckv.2_5'Flank|SORBS2_uc003iyd.3_Silent_p.K247K|SORBS2_uc003iye.3_Silent_p.K68K|SORBS2_uc003iya.3_Silent_p.K68K|SORBS2_uc003iyb.3_Silent_p.K68K|SORBS2_uc003iyc.3_Silent_p.K68K|SORBS2_uc003iyf.3_Silent_p.K131K|SORBS2_uc003iyo.1_5'Flank	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	68						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATGCGGGGCTTTGATGACTG	0.567													7	43					0	0	1	0	0	C	186578641	T	C	186578641	2	2	264	1	0	0	0	0	0	0	0	1	14928	1606	56	3		3	SORBS2	4	186578641	Silent	SNP	T	TCGA-EM-A2P3-01A-11D-A202-08	47421113	186578641	4575635	5	4553											
GRM6	2916	broad.mit.edu	37	chr5	178418557	178418557	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagactgggcaatacagaccCcccctgggcgttgggggtgc	15	12	0	2			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr5:178418557C>G	uc003mjr.3	-	2	904	c.725G>C	c.(724-726)gGg>gCg	p.G242A	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	242					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	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)	all cancers(165;0.245)		AATACAGACCCCCCCTGGGCG	0.627													46	138					0	0	1	0	0	G	178418557	C	G	178418557	3	3	264	1	0	0	0	0	1	0	0	0	6801	623	22	4	1940	4	GRM6	5	178418557	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		178418557	2496703	6	4554											
APOBEC2	10930	broad.mit.edu	37	chr6	41029581	41029583	+	In_Frame_Del	DEL	GAG	GAG	-													aggagaacttcctatactacGaggagaagttggcagacatc					rs150558136		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr6:41029581_41029583delGAG	uc003opl.3	+	1	793_795	c.646_648delGAG	c.(646-648)gagdel	p.E217del	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	217					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTATACTACGAGGAGAAGTTGG	0.483													34	64	---	---	---	---						-	41029583	GAG	-	41029581	7	5	264	1	0	1	0	1	0	0	0	0	788	1059	37	0	652	0	APOBEC2	6	41029581	In_Frame_Del	DEL	GAG	TCGA-EM-A2P3-01A-11D-A202-08		41029581	130085486	7	4555											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	34					0	0	1	0	0	T	140453136	A	T	140453136	3	4	264	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2P3-01A-11D-A202-08		140453136	18685527	8	4556											
WNK2	65268	broad.mit.edu	37	chr9	96051588	96051588	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcccagctcccaagcccaCccctggggcccaccgtcccc	7	25	0	0	rs35091400		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr9:96051588C>G	uc004ati.1	+	19	4663	c.4663C>G	c.(4663-4665)Ccc>Gcc	p.P1555A	WNK2_uc011lud.1_Missense_Mutation_p.P1518A|WNK2_uc004atj.3_Missense_Mutation_p.P1518A|WNK2_uc004atk.3_Missense_Mutation_p.P1155A|WNK2_uc004atl.1_Missense_Mutation_p.P113A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1555					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCAAGCCCACCCCTGGGGCC	0.721													6	14					0	0	1	0	0	G	96051588	C	G	96051588	3	3	264	1	0	0	0	0	1	0	0	0	17375	507	18	4	4626	4	WNK2	9	96051588	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		96051588	45161843	9	4557											
KLC2	64837	broad.mit.edu	37	chr11	66033332	66033332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctccctcagggtttggAccccgcaagccagaccaagg	11	17	1	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr11:66033332A>G	uc010rov.1	+	12	1694	c.1451A>G	c.(1450-1452)gAc>gGc	p.D484G	KLC2_uc010row.1_Missense_Mutation_p.D484G|KLC2_uc001ohb.2_Missense_Mutation_p.D484G|KLC2_uc010rox.1_Missense_Mutation_p.D407G|KLC2_uc001ohc.2_Missense_Mutation_p.D484G|KLC2_uc001ohd.2_Missense_Mutation_p.D407G|KLC2_uc001ohe.1_Missense_Mutation_p.D345G|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	484					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGGGTTTGGACCCCGCAAGC	0.672													3	66					0	0	1	0	0	G	66033332	A	G	66033332	3	3	264	1	0	0	0	0	1	0	0	0	8334	275	10	3	1497	3	KLC2	11	66033332	Missense_Mutation	SNP	A	TCGA-EM-A2P3-01A-11D-A202-08		66033332	68973184	10	4558											
BRCA2	675	broad.mit.edu	37	chr13	32913950	32913950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgactagctcttcacccTgcaaaaataaaaatgcagcc	6	11	2	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr13:32913950T>C	uc001uub.1	+	10	5685	c.5458T>C	c.(5458-5460)Tgc>Cgc	p.C1820R		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1820					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCTTCACCCTGCAAAAATAA	0.353			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	95					0	0	1	0	0	C	32913950	T	C	32913950	3	2	264	1	0	0	0	0	1	0	0	0	1499	1580	55	3	5496	3	BRCA2	13	32913950	Missense_Mutation	SNP	T	TCGA-EM-A2P3-01A-11D-A202-08		32913950	82255928	11	4559											
PYGO1	26108	broad.mit.edu	37	chr15	55839051	55839051	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcccaaagttaaaagcatGaggtcgattaaaacccatgc	9	9	0	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr15:55839051G>A	uc010bfl.1	-	2	486	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	PYGO1_uc002adf.1_Missense_Mutation_p.H144Y	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	144					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTAAAAGCATGAGGTCGATTA	0.423													30	52					0	0	1	0	0	A	55839051	G	A	55839051	3	1	264	1	0	0	0	0	1	0	0	0	12863	1290	45	2	833	2	PYGO1	15	55839051	Missense_Mutation	SNP	G	TCGA-EM-A2P3-01A-11D-A202-08		55839051	46692341	12	4560											
CUEDC1	404093	broad.mit.edu	37	chr17	55962647	55962647	+	Frame_Shift_Del	DEL	G	G	-													tcatagacgccgccgctgctGccaccgccctccaggttcat							TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr17:55962647delG	uc002ivd.1	-	1	998	c.279delC	c.(277-279)ggcfs	p.G93fs	CUEDC1_uc002ive.1_Frame_Shift_Del_p.G93fs	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	93										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGCCGCTGCTGCCACCGCCCT	0.642													40	71	---	---	---	---						-	55962647	G	-	55962647	7	5	264	1	0	1	0	1	0	0	0	0	4052	1306	46	0	917	0	CUEDC1	17	55962647	Frame_Shift_Del	DEL	G	TCGA-EM-A2P3-01A-11D-A202-08		55962647	25232563	13	4561											
SOX12	6666	broad.mit.edu	37	chr20	306862	306862	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggcggagcggctgcggctCaagcacatggcggattaccc	16	12	1	0			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:306862C>T	uc002wdh.3	+	0	624	c.294C>T	c.(292-294)ctC>ctT	p.L98L		NM_006943	NP_008874	O15370	SOX12_HUMAN	Homo sapiens SRY (sex determining region Y)-box 12 (SOX12), mRNA.	98					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGCTGCGGCTCAAGCACATGG	0.701													3	13					0	0	1	0	0	T	306862	C	T	306862	2	4	264	1	0	0	0	0	0	0	0	1	14943	813	29	2		2	SOX12	20	306862	Silent	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		306862	62718658	14	4562											
PAK7	57144	broad.mit.edu	37	chr20	9546574	9546574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcgtctctgttgcttcCggaggtccattttcttcact	8	12	4	0			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:9546574C>T	uc002wnl.2	-	5	1993	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q	PAK7_uc002wnk.2_Missense_Mutation_p.R483Q|PAK7_uc002wnj.2_Missense_Mutation_p.R483Q|PAK7_uc010gby.1_Missense_Mutation_p.R483Q	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	483	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.R483Q(4)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTTGCTTCCGGAGGTCCAT	0.438													26	170					0	0	1	0	0	T	9546574	C	T	9546574	3	4	264	1	0	0	0	0	1	0	0	0	11405	652	23	1	735	1	PAK7	20	9546574	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08	9239712	9546574	53478946	15	4563											
IL17REL	400935	broad.mit.edu	37	chr22	50436469	50436469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttcaggcagagctgGggctgggtgtccaccagcgg	15	13	2	1			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr22:50436469G>A	uc003bje.1	-	10	1036	c.804C>T	c.(802-804)ccC>ccT	p.P268P		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	268										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGAGCTGGGGCTGGGTGT	0.692													14	52					0	0	1	0	0	A	50436469	G	A	50436469	2	1	264	1	0	0	0	0	0	0	0	1	7644	1219	43	2		2	IL17REL	22	50436469	Silent	SNP	G	TCGA-EM-A2P3-01A-11D-A202-08		50436469	868097	16	4564											
PI4K2B	55300	broad.mit.edu	37	chr4	25265420	25265420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttattaaaatagctgcaAttgataatggtctagcattt	6	6	1	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr4:25265420A>G	uc003grk.2	+	6	1160	c.1027A>G	c.(1027-1029)Att>Gtt	p.I343V	PI4K2B_uc011bxs.2_Missense_Mutation_p.I247V	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	343	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AATAGCTGCAATTGATAATGG	0.303													41	50					0	0	1	0	0	G	25265420	A	G	25265420	3	3	265	1	0	0	0	0	1	0	0	0	11872	101	4	3	1053	3	PI4K2B	4	25265420	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08		25265420	165888856	1	4565											
GPX8	493869	broad.mit.edu	37	chr5	54456042	54456042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcctcttgcagcttacCcgctaaaatgttccgggccc	10	14	1	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr5:54456042C>T	uc003jpq.2	+	0	59	c.22C>T	c.(22-24)Ccg>Tcg	p.P8S	CDC20B_uc003jpo.2_Intron|CDC20B_uc003jpn.2_Intron|CDC20B_uc010ivu.2_Intron|CDC20B_uc010ivv.2_Intron|CDC20B_uc003jpp.3_Intron|GPX8_uc003jpr.2_Missense_Mutation_p.P8S|GPX8_uc003jps.2_Non-coding_Transcript|GPX8_uc003jpt.2_Missense_Mutation_p.P8S	NM_001008397	NP_001008398	Q8TED1	GPX8_HUMAN	Homo sapiens glutathione peroxidase 8 (putative) (GPX8), mRNA.	8					response to oxidative stress	integral to membrane	glutathione peroxidase activity	p.P8P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TGCAGCTTACCCGCTAAAATG	0.448													45	40					0	0	1	0	0	T	54456042	C	T	54456042	3	4	265	1	0	0	0	0	1	0	0	0	6746	623	22	2	24	2	GPX8	5	54456042	Missense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		54456042	126459218	2	4566											
PCSK1	5122	broad.mit.edu	37	chr5	95735729	95735729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaggtcctggggtcaGctaaatccaccagagctttg	10	13	1	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr5:95735729G>A	uc003kls.2	-	9	1597	c.1358C>T	c.(1357-1359)gCt>gTt	p.A453V	PCSK1_uc010jbi.2_Missense_Mutation_p.A143V|PCSK1_uc021ybq.1_Missense_Mutation_p.A406V	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	453					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGGGGTCAGCTAAATCCAC	0.463													3	91					0	0	1	0	0	A	95735729	G	A	95735729	3	1	265	1	0	0	0	0	1	0	0	0	11600	971	34	2	923	2	PCSK1	5	95735729	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08	41279687	95735729	85179531	3	4567											
PRKAG2	51422	broad.mit.edu	37	chr7	151573629	151573629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaacgcctcttctggctgGcatttttcttgccgccgctc	10	15	3	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr7:151573629G>A	uc003wkk.3	-	0	688	c.77C>T	c.(76-78)gCc>gTc	p.A26V	PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.A26V|LOC100505483_uc003wko.2_5'Flank	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	26					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CTTCTGGCTGGCATTTTTCTT	0.607													4	150					0	0	1	0	0	A	151573629	G	A	151573629	3	1	265	1	0	0	0	0	1	0	0	0	12501	1203	42	2	1696	2	PRKAG2	7	151573629	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		151573629	7565034	4	4568											
NCAPG2	54892	broad.mit.edu	37	chr7	158448053	158448053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgaagatggatgctcAggcgacagtggagaccaaag	15	7	1	3			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr7:158448053A>G	uc011kwe.1	-	19	2628	c.2483T>C	c.(2482-2484)cTg>cCg	p.L828P	NCAPG2_uc010lqu.1_Missense_Mutation_p.L620P|NCAPG2_uc003wnx.1_Missense_Mutation_p.L828P|NCAPG2_uc003wnv.1_Missense_Mutation_p.L828P|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.L329P|NCAPG2_uc011kwd.1_Missense_Mutation_p.L271P	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	828					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ATGGATGCTCAGGCGACAGTG	0.522													4	481					0	0	1	0	0	G	158448053	A	G	158448053	3	3	265	1	0	0	0	0	1	0	0	0	10208	188	7	3	984	3	NCAPG2	7	158448053	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08	6874424	158448053	690610	5	4569											
CSMD3	114788	broad.mit.edu	37	chr8	113529419	113529419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcgagtcccattcatggGgacccctgggtcacgacacg	11	13	2	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr8:113529419G>A	uc003ynu.3	-	27	4759	c.4600C>T	c.(4600-4602)Ccc>Tcc	p.P1534S	CSMD3_uc003yns.3_Missense_Mutation_p.P806S|CSMD3_uc003ynt.3_Missense_Mutation_p.P1494S|CSMD3_uc011lhx.2_Missense_Mutation_p.P1430S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1534	Sushi 8.					integral to membrane|plasma membrane		p.P1534T(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATTCATGGGGACCCCTGGG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	32					0	0	1	0	0	A	113529419	G	A	113529419	3	1	265	1	0	0	0	0	1	0	0	0	3946	1232	43	2	6699	2	CSMD3	8	113529419	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		113529419	32834603	6	4570											
TG	7038	broad.mit.edu	37	chr8	133885318	133885318	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttaggtccaaggagcTgtgaaataagaaatcgtcgt	11	5	0	2			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr8:133885318T>G	uc003ytw.3	+	4	531	c.490T>G	c.(490-492)Tgt>Ggt	p.C164G		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	164	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCAAGGAGCTGTGAAATAAG	0.448													5	36					0	0	1	0	0	G	133885318	T	G	133885318	3	3	265	1	0	0	0	0	1	0	0	0	15810	1580	55	5	508	5	TG	8	133885318	Missense_Mutation	SNP	T	TCGA-EM-A3AI-01A-11D-A202-08	20355899	133885318	12478704	7	4571											
CTTN	2017	broad.mit.edu	37	chr11	70282508	70282508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacttgggtcccggagtgCccgtgaagcgtgtttttgct	16	9	0	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr11:70282508C>T	uc001opu.3	+	18	2105	c.1899C>T	c.(1897-1899)tgC>tgT	p.C633C	CTTN_uc001opv.4_3'UTR|CTTN_uc001opw.4_3'UTR|CTTN_uc001opx.3_3'UTR	NM_001184740	NP_001171669	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 3, mRNA.	0						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TCCCGGAGTGCCCGTGAAGCG	0.532													4	176					0	0	1	0	0	T	70282508	C	T	70282508	2	4	265	1	0	0	0	0	0	0	0	1	4044	747	26	2		2	CTTN	11	70282508	Silent	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		70282508	64724008	8	4572											
GPR133	283383	broad.mit.edu	37	chr12	131484927	131484927	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtcattttgtccacctttaGaccttcttaaaagccgtggg	8	10	2	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr12:131484927G>C	uc010tbm.2	+	10	1622	c.1063_splice	c.e10-1	p.T355_splice	GPR133_uc001uit.4_Splice_Site_p.T323_splice	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	323					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCACCTTTAGACCTTCTTAA	0.478													28	95					0	0	1	0	0	C	131484927	G	C	131484927	5	2	265	1	0	0	0	0	0	0	1	0	6643	956	33	4	1000	4	GPR133	12	131484927	Splice_Site	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		131484927	2366968	9	4573											
EDDM3B	64184	broad.mit.edu	37	chr14	21238577	21238577	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaactggatggatcgcttcCgaaatgcatatgtatgggtc	11	8	0	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr14:21238577C>T	uc001vyd.3	+	1	366	c.268C>T	c.(268-270)Cga>Tga	p.R90*	EDDM3B_uc021ron.1_Nonsense_Mutation_p.R90*	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	90					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GGATCGCTTCCGAAATGCATA	0.408													58	63					0	0	1	0	0	T	21238577	C	T	21238577	4	4	265	1	0	0	0	0	0	1	0	0	4910	644	23	1	270	1	EDDM3B	14	21238577	Nonsense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		21238577	86110963	10	4574											
AHNAK2	113146	broad.mit.edu	37	chr14	105409977	105409977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctcctggggcctcgacGtccacctccacgctgggcag	13	16	0	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr14:105409977G>A	uc010axc.1	-	6	11931	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D3837D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3937						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.597													6	408					0	0	1	0	0	A	105409977	G	A	105409977	2	1	265	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105409977	Silent	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08	84171400	105409977	1939563	11	4575											
EFNB3	1949	broad.mit.edu	37	chr17	7612771	7612771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatagctctgcggggtggCggggctgcagatcccccctt	17	12	1	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr17:7612771C>T	uc002gis.3	+	4	1297	c.900C>T	c.(898-900)ggC>ggT	p.G300G		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	300					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCGGGGTGGCGGGGCTGCAG	0.667													15	85					0	0	1	0	0	T	7612771	C	T	7612771	2	4	265	1	0	0	0	0	0	0	0	1	4957	755	27	1		1	EFNB3	17	7612771	Silent	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		7612771	73582439	12	4576											
NEDD4L	23327	broad.mit.edu	37	chr18	55998052	55998052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccaccaccggcctccccagGatctcggaccagccctcagg	9	21	2	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr18:55998052G>T	uc002lgy.3	+	10	1179	c.896G>T	c.(895-897)gGa>gTa	p.G299V	NEDD4L_uc002lgz.3_Missense_Mutation_p.G299V|NEDD4L_uc002lgx.3_Missense_Mutation_p.G299V|NEDD4L_uc010xee.1_Missense_Mutation_p.G178V|NEDD4L_uc002lhc.2_Missense_Mutation_p.G291V|NEDD4L_uc002lhd.2_Missense_Mutation_p.G178V|NEDD4L_uc002lhb.2_Missense_Mutation_p.G178V|NEDD4L_uc002lhe.2_Missense_Mutation_p.G291V|NEDD4L_uc002lhf.3_Missense_Mutation_p.G178V|NEDD4L_uc002lhg.3_Missense_Mutation_p.G178V|NEDD4L_uc002lhh.2_Missense_Mutation_p.G178V|NEDD4L_uc010dpm.1_Missense_Mutation_p.G150V	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	299					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCCTCCCCAGGATCTCGGACC	0.542													6	47					0	0	1	0	0	T	55998052	G	T	55998052	3	4	265	1	0	0	0	0	1	0	0	0	10311	1174	41	4	966	4	NEDD4L	18	55998052	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		55998052	22079196	13	4577											
ELL	8178	broad.mit.edu	37	chr19	18572546	18572546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccgctgcccccactcaCggcactggcaccactcttcc	6	23	2	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr19:18572546C>T	uc002njh.3	-	4	658	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	ELL_uc010ebq.3_Missense_Mutation_p.V139M|ELL_uc002njg.3_Missense_Mutation_p.V63M	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	196					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CCCCCACTCACGGCACTGGCA	0.667			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	39					0	0	1	0	0	T	18572546	C	T	18572546	3	4	265	1	0	0	0	0	1	0	0	0	5062	536	19	1	1311	1	ELL	19	18572546	Missense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		18572546	40556437	14	4578											
PRPF6	24148	broad.mit.edu	37	chr20	62657293	62657293	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtacttgcccttcaggCcaaccccaacagtgaggaga	10	13	1	2			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr20:62657293C>T	uc002yho.3	+	15	2077	c.1909_splice	c.e15-1	p.A637_splice	PRPF6_uc002yhp.3_Intron	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	637					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCCCTTCAGGCCAACCCCAAC	0.612													127	419					0	0	1	0	0	T	62657293	C	T	62657293	5	4	265	1	0	0	0	0	0	0	1	0	12574	753	26	2	1968	2	PRPF6	20	62657293	Splice_Site	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		62657293	368227	15	4579											
GRIK1	2897	broad.mit.edu	37	chr21	31023467	31023467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatccaaaaggccagtctCgggcctgggtggggcctgca	15	13	1	0			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr21:31023467C>T	uc011acs.2	-	5	1389	c.925G>A	c.(925-927)Gag>Aag	p.E309K	GRIK1_uc002ynn.3_Missense_Mutation_p.E309K|GRIK1_uc011act.2_Missense_Mutation_p.E253K|GRIK1_uc002yno.1_Missense_Mutation_p.E309K|GRIK1_uc010glq.1_Missense_Mutation_p.E167K|GRIK1_uc002ynr.3_Missense_Mutation_p.E309K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	309					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.E309K(3)|p.E309E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGGCCAGTCTCGGGCCTGGGT	0.463													11	62					0	0	1	0	0	T	31023467	C	T	31023467	3	4	265	1	0	0	0	0	1	0	0	0	6773	893	31	1	2039	1	GRIK1	21	31023467	Missense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		31023467	17106428	16	4580											
TRAPPC10	7109	broad.mit.edu	37	chr21	45511884	45511884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttgtagataccggtgAtagtaccgacctgcaactag	9	9	1	2			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr21:45511884A>G	uc002zea.3	+	18	3120	c.2951A>G	c.(2950-2952)gAt>gGt	p.D984G	TRAPPC10_uc010gpo.3_Missense_Mutation_p.D695G|TRAPPC10_uc011afa.2_Missense_Mutation_p.D362G|TRAPPC10_uc011afb.1_Missense_Mutation_p.D89G	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	984					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.G983D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GATACCGGTGATAGTACCGAC	0.408													4	123					0	0	1	0	0	G	45511884	A	G	45511884	3	3	265	1	0	0	0	0	1	0	0	0	16454	333	12	3	3025	3	TRAPPC10	21	45511884	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08	14488417	45511884	2618011	17	4581											
MST4	51765	broad.mit.edu	37	chrX	131205246	131205246	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattccgagggctctgattcGtatgtacaaattatttaatt	8	6	1	1			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chrX:131205246G>A	uc011mux.1	+	9	1299	c.998_splice	c.e9+1	p.S333_splice	MST4_uc004ewk.1_Splice_Site_p.S311_splice|MST4_uc004ewl.1_Splice_Site_p.S234_splice|MST4_uc010nrj.1_Splice_Site_p.S311_splice|MST4_uc004ewm.1_Splice_Site_p.S249_splice	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	311					cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCTCTGATTCGTATGTACAAA	0.348													12	110					0	0	1	0	0	A	131205246	G	A	131205246	5	1	265	1	0	0	0	0	0	0	1	0	9892	1159	40	1	959	1	MST4	23	131205246	Splice_Site	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		131205246	24065314	18	4582											
PIK3CD	5293	broad.mit.edu	37	chr1	9783255	9783255	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggtactccgttcagacacCatcgccaacatccaactcaa	6	15	2	1			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr1:9783255C>G	uc001aqe.4	+	18	2779	c.2571C>G	c.(2569-2571)acC>acG	p.T857T	PIK3CD_uc001aqb.4_Silent_p.T833T|PIK3CD_uc010oaf.2_Silent_p.T832T|PIK3CD_uc021ogb.1_Silent_p.T617T	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	833	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCAGACACCATCGCCAACA	0.607													7	239					0	0	1	0	0	G	9783255	C	G	9783255	2	3	266	1	0	0	0	0	0	0	0	1	11915	581	21	4		4	PIK3CD	1	9783255	Silent	SNP	C	TCGA-EM-A3AJ-01A-11D-A202-08		9783255	239467366	1	4583											
TRIM10	10107	broad.mit.edu	37	chr6	30128710	30128710	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggctgggtcacacacTcacacacccacacatgcaca	9	15	2	0			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr6:30128710T>C	uc003npo.3	-	1	1	c.-75_splice	c.e1-1		TRIM10_uc003npn.2_Splice_Site|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.							cytoplasm	zinc ion binding			ovary(1)	1						GGTCACACACTCACACACCCA	0.572													2	7					0	0	1	0	0	C	30128710	T	C	30128710	5	2	266	1	0	0	0	0	0	0	1	0	16483	1565	54	3		3	TRIM10	6	30128710	Splice_Site	SNP	T	TCGA-EM-A3AJ-01A-11D-A202-08		30128710	140986357	2	4584											
CNTLN	54875	broad.mit.edu	37	chr9	17236437	17236437	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgtgtacagaacaaagaaGagcaaaacagactagttata	9	5	0	4			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr9:17236437G>A	uc003zmz.2	+	4	726	c.700G>A	c.(700-702)Gag>Aag	p.E234K	CNTLN_uc003zmx.4_Missense_Mutation_p.E234K|CNTLN_uc003zmy.3_Missense_Mutation_p.E234K|CNTLN_uc010mio.3_5'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	234						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAACAAAGAAGAGCAAAACAG	0.383													14	61					0	0	1	0	0	A	17236437	G	A	17236437	3	1	266	1	0	0	0	0	1	0	0	0	3639	943	33	2	718	2	CNTLN	9	17236437	Missense_Mutation	SNP	G	TCGA-EM-A3AJ-01A-11D-A202-08		17236437	123976994	3	4585											
MCM10	55388	broad.mit.edu	37	chr10	13213015	13213015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaataacttcttgacgcGggaaaatggcgagcccgacg	12	9	1	2	rs150335901		TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr10:13213015G>A	uc001ima.3	+	2	229	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	MCM10_uc001imb.3_Missense_Mutation_p.R34Q|MCM10_uc001imc.3_Missense_Mutation_p.R34Q	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	34					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTCTTGACGCGGGAAAATGGC	0.488													5	195					0	0	1	0	0	A	13213015	G	A	13213015	3	1	266	1	0	0	0	0	1	0	0	0	9385	1116	39	1	107	1	MCM10	10	13213015	Missense_Mutation	SNP	G	TCGA-EM-A3AJ-01A-11D-A202-08		13213015	122321732	4	4586											
PVRL1	5818	broad.mit.edu	37	chr11	119548360	119548360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcttccctgctgggcaccAggcggtagcggctgatgacc	16	13	0	2			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr11:119548360A>G	uc001pwv.3	-	2	810	c.638T>C	c.(637-639)cTg>cCg	p.L213P	PVRL1_uc001pwu.1_Missense_Mutation_p.L213P|PVRL1_uc001pww.3_Missense_Mutation_p.L213P	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	213	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCTGGGCACCAGGCGGTAGCG	0.582													3	106					0	0	1	0	0	G	119548360	A	G	119548360	3	3	266	1	0	0	0	0	1	0	0	0	12839	188	7	3	1377	3	PVRL1	11	119548360	Missense_Mutation	SNP	A	TCGA-EM-A3AJ-01A-11D-A202-08		119548360	15458156	5	4587											
NUAK1	9891	broad.mit.edu	37	chr12	106460871	106460871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacactggaagggcggctGtagctccgggagaggccctc	16	11	0	2	rs142540856		TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr12:106460871G>A	uc001tlj.1	-	6	3075	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	565							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGGGCGGCTGTAGCTCCGGG	0.632													8	50					0	0	1	0	0	A	106460871	G	A	106460871	2	1	266	1	0	0	0	0	0	0	0	1	10712	1372	48	2		2	NUAK1	12	106460871	Silent	SNP	G	TCGA-EM-A3AJ-01A-11D-A202-08		106460871	27391024	6	4588											
TRAFD1	10906	broad.mit.edu	37	chr12	112589709	112589709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaatatgacagctaccTataaccagctatcgagatca	5	10	1	2			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr12:112589709T>G	uc001ttp.3	+	9	1470	c.1384T>G	c.(1384-1386)Tat>Gat	p.Y462D	TRAFD1_uc001tto.3_Missense_Mutation_p.Y462D	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	462					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GACAGCTACCTATAACCAGCT	0.542													16	246					0	0	1	0	0	G	112589709	T	G	112589709	3	3	266	1	0	0	0	0	1	0	0	0	16444	1522	53	5	1418	5	TRAFD1	12	112589709	Missense_Mutation	SNP	T	TCGA-EM-A3AJ-01A-11D-A202-08	6128838	112589709	21262186	7	4589											
ADAMTS18	170692	broad.mit.edu	37	chr16	77396028	77396028	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacatggttcattcttcCaagaacaaatatcaaatcct	4	10	4	1			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr16:77396028C>T	uc002ffc.4	-	6	1609	c.1190G>A	c.(1189-1191)tGg>tAg	p.W397*	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Nonsense_Mutation_p.W93*|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	397	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTCTTCCAAGAACAAAT	0.398													7	27					0	0	1	0	0	T	77396028	C	T	77396028	4	4	266	1	0	0	0	0	0	1	0	0	263	595	21	2	2543	2	ADAMTS18	16	77396028	Nonsense_Mutation	SNP	C	TCGA-EM-A3AJ-01A-11D-A202-08		77396028	12958725	8	4590											
S100A6	6277	broad.mit.edu	37	chr1	153507784	153507784	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagatggccacgaggAggccaatggcctgatccagg	16	9	0	2			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:153507784A>C	uc001fbw.1	-	1	346	c.32T>G	c.(31-33)cTc>cGc	p.L11R		NM_014624	NP_055439	P06703	S10A6_HUMAN	Homo sapiens S100 calcium binding protein A6 (S100A6), mRNA.	11					axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	S100 beta binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCCACGAGGAGGCCAATGGC	0.602													6	81					0	0	1	0	0	C	153507784	A	C	153507784	3	2	267	1	0	0	0	0	1	0	0	0	13782	304	11	5	248	5	S100A6	1	153507784	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		153507784	95742837	1	4591											
C1orf101	257044	broad.mit.edu	37	chr1	244724433	244724433	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaaatgacagcattattcAtgaagttttcataggtaagg	8	5	3	2			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:244724433A>T	uc001iam.3	+	9	1552	c.1493A>T	c.(1492-1494)cAt>cTt	p.H498L	C1orf101_uc001iak.1_Missense_Mutation_p.H52L|C1orf101_uc001ial.3_Missense_Mutation_p.H498L|C1orf101_uc010pym.2_Missense_Mutation_p.H347L|C1orf101_uc010pyn.2_Missense_Mutation_p.H431L	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	498						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGCATTATTCATGAAGTTTTC	0.328													6	92					0	0	1	0	0	T	244724433	A	T	244724433	3	4	267	1	0	0	0	0	1	0	0	0	1976	217	8	5	1531	5	C1orf101	1	244724433	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08	91216649	244724433	4526188	2	4592											
OR2M3	127062	broad.mit.edu	37	chr1	248367157	248367157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatgtacatacggcccaCatctgatcgctccccaacac	6	16	2	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:248367157C>T	uc010pzg.2	+	0	788	c.788C>T	c.(787-789)aCa>aTa	p.T263I		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATACGGCCCACATCTGATCGC	0.502													67	125					0	0	1	0	0	T	248367157	C	T	248367157	3	4	267	1	0	0	0	0	1	0	0	0	11011	478	17	2	790	2	OR2M3	1	248367157	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08	3642724	248367157	883464	3	4593											
GALNTL2	117248	broad.mit.edu	37	chr3	16254129	16254129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctctcgggtaggacaCatctaccaaaatcaggattc	8	13	3	0			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr3:16254129C>T	uc003car.4	+	5	1726	c.1251C>T	c.(1249-1251)caC>caT	p.H417H	GALNTL2_uc003caq.4_Silent_p.H150H	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	417	Catalytic subdomain B.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GGGTAGGACACATCTACCAAA	0.532													21	43					0	0	1	0	0	T	16254129	C	T	16254129	2	4	267	1	0	0	0	0	0	0	0	1	6222	477	17	2		2	GALNTL2	3	16254129	Silent	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		16254129	181768301	4	4594											
MCC	4163	broad.mit.edu	37	chr5	112420872	112420872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaactcaccttggcgatggGaatgtcattgctgctgctgc	13	10	2	0			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr5:112420872G>A	uc003kql.4	-	8	1950	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	MCC_uc003kqj.4_Missense_Mutation_p.P322S|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.P322S|MCC_uc010jcd.1_Missense_Mutation_p.P284S	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	322					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTGGCGATGGGAATGTCATTG	0.612													28	124					0	0	1	0	0	A	112420872	G	A	112420872	3	1	267	1	0	0	0	0	1	0	0	0	9373	1174	41	2	1569	2	MCC	5	112420872	Missense_Mutation	SNP	G	TCGA-EM-A3AK-01A-11D-A202-08		112420872	68494388	5	4595											
GRM1	2911	broad.mit.edu	37	chr6	146351093	146351093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctgacggccagtcccTccccccaggcaggactaaga	10	17	1	2			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr6:146351093T>C	uc010khw.1	+	1	910	c.440T>C	c.(439-441)cTc>cCc	p.L147P	GRM1_uc010khu.1_Missense_Mutation_p.L147P|GRM1_uc010khv.1_Missense_Mutation_p.L147P|GRM1_uc003qll.2_Missense_Mutation_p.L147P|GRM1_uc011edz.1_Missense_Mutation_p.L147P|GRM1_uc011eea.1_Missense_Mutation_p.L147P	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	147					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCCAGTCCCTCCCCCCAGGC	0.562													3	113					0	0	1	0	0	C	146351093	T	C	146351093	3	2	267	1	0	0	0	0	1	0	0	0	6796	1551	54	3	442	3	GRM1	6	146351093	Missense_Mutation	SNP	T	TCGA-EM-A3AK-01A-11D-A202-08		146351093	24763974	6	4596											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	58					0	0	1	0	0	T	140453136	A	T	140453136	3	4	267	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		140453136	18685527	7	4597											
SLC45A4	57210	broad.mit.edu	37	chr8	142231785	142231785	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcaccggtcactcgcAgacccaatgagaggtgtgaa	14	10	1	3			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr8:142231785A>T	uc003ywd.1	-	1	476	c.168T>A	c.(166-168)tcT>tcA	p.S56S	SLC45A4_uc003ywc.1_Silent_p.S56S|SLC45A4_uc010meq.1_Silent_p.S54S	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	107					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTCACTCGCAGACCCAATGA	0.632													11	88					0	0	1	0	0	T	142231785	A	T	142231785	2	4	267	1	0	0	0	0	0	0	0	1	14643	175	7	5		5	SLC45A4	8	142231785	Silent	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		142231785	4132237	8	4598											
ANKRD20A3	441425	broad.mit.edu	37	chr9	42368593	42368593	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgcaggagcggagaccTggacgccctggacaagcagc	17	13	0	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr9:42368593T>A	uc004acd.3	+	0	291	c.179T>A	c.(178-180)cTg>cAg	p.L60Q	ANKRD20A3_uc010mmv.3_Missense_Mutation_p.L60Q	NM_001012419	NP_001012421	Q5VUR7	A20A3_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.	60																	AGCGGAGACCTGGACGCCCTG	0.716													4	99					0	0	1	0	0	A	42368593	T	A	42368593	3	1	267	1	0	0	0	0	1	0	0	0	649	1580	55	5	181	5	ANKRD20A3	9	42368593	Missense_Mutation	SNP	T	TCGA-EM-A3AK-01A-11D-A202-08		42368593	98844838	9	4599											
VPS13A	23230	broad.mit.edu	37	chr9	79867160	79867160	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgtacttaggtgataattGgagagaagcacgaaaactca	10	6	2	2			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr9:79867160G>C	uc004akr.3	+	21	2440	c.2180G>C	c.(2179-2181)tGg>tCg	p.W727S	VPS13A_uc004akp.4_Missense_Mutation_p.W727S|VPS13A_uc004akq.4_Missense_Mutation_p.W727S|VPS13A_uc004aks.3_Missense_Mutation_p.W727S	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	727					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGTGATAATTGGAGAGAAGCA	0.343													3	104					0	0	1	0	0	C	79867160	G	C	79867160	3	2	267	1	0	0	0	0	1	0	0	0	17186	1357	47	4	2266	4	VPS13A	9	79867160	Missense_Mutation	SNP	G	TCGA-EM-A3AK-01A-11D-A202-08	37498567	79867160	61346271	10	4600											
IL22	50616	broad.mit.edu	37	chr12	68646552	68646552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtagcttacactgactcCgtggaacagtttctccccaa	7	13	1	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr12:68646552C>T	uc001sty.1	-	1	297	c.244G>A	c.(244-246)Gga>Aga	p.G82R	IL22_uc010stb.1_Missense_Mutation_p.G82R	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	82					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ACACTGACTCCGTGGAACAGT	0.498													4	82					0	0	1	0	0	T	68646552	C	T	68646552	3	4	267	1	0	0	0	0	1	0	0	0	7672	661	23	1	311	1	IL22	12	68646552	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		68646552	65205343	11	4601											
C15orf43	145645	broad.mit.edu	37	chr15	45249168	45249168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgcctcgcacccagacAcgctgaggtactgagggcga	14	12	0	4			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr15:45249168A>G	uc001zuk.3	+	1	153	c.139A>G	c.(139-141)Acg>Gcg	p.T47A		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	47										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GCACCCAGACACGCTGAGGTA	0.552													3	62					0	0	1	0	0	G	45249168	A	G	45249168	3	3	267	1	0	0	0	0	1	0	0	0	1797	159	6	3	145	3	C15orf43	15	45249168	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		45249168	57282224	12	4602											
ALPK3	57538	broad.mit.edu	37	chr15	85401117	85401117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaccgtgaggtgcagGctggccgccaggcccttgct	15	14	0	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr15:85401117G>A	uc002ble.3	+	5	3921	c.3754G>A	c.(3754-3756)Gct>Act	p.A1252T		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1252					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGAGGTGCAGGCTGGCCGCCA	0.682													3	27					0	0	1	0	0	A	85401117	G	A	85401117	3	1	267	1	0	0	0	0	1	0	0	0	546	1203	42	2	3776	2	ALPK3	15	85401117	Missense_Mutation	SNP	G	TCGA-EM-A3AK-01A-11D-A202-08	40151949	85401117	17130275	13	4603											
SPSB3	90864	broad.mit.edu	37	chr16	1831286	1831286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgattccgtgttcaggtAatgtctgcctgcctgcctag	11	11	2	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr16:1831286A>G	uc010uvm.2	-	1	290	c.199T>C	c.(199-201)Tac>Cac	p.Y67H	NUBP2_uc002cmw.4_5'Flank|NUBP2_uc002cmx.4_5'Flank|SPSB3_uc002cmt.3_Intron|SPSB3_uc002cmu.3_Intron			Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	36					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GTGTTCAGGTAATGTCTGCCT	0.572													4	33					0	0	1	0	0	G	1831286	A	G	1831286	3	3	267	1	0	0	0	0	1	0	0	0	15113	377	13	3		3	SPSB3	16	1831286	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		1831286	88523467	14	4604											
CFD	1675	broad.mit.edu	37	chr19	860954	860954	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgctccgcgcagtgccCcacccggacagccagcccga	12	19	0	0			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:860954C>A	uc002lqc.3	+	2	331	c.306C>A	c.(304-306)ccC>ccA	p.P102P		NM_001928	NP_001919	P00746	CFAD_HUMAN	Homo sapiens complement factor D (adipsin) (CFD), mRNA.	102	Peptidase S1.				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGTGCCCCACCCGGACA	0.721													3	20					0	0	1	0	0	A	860954	C	A	860954	2	1	267	1	0	0	0	0	0	0	0	1	3281	610	22	4		4	CFD	19	860954	Silent	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		860954	58268029	15	4605											
ZNF799	90576	broad.mit.edu	37	chr19	12502822	12502822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcatgatactcataTggtttgtgcccagcaccaac	6	13	2	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:12502822T>C	uc010dyt.3	-	3	594	c.390A>G	c.(388-390)ccA>ccG	p.P130P	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GATACTCATATGGTTTGTGCC	0.443													5	139					0	0	1	0	0	C	12502822	T	C	12502822	2	2	267	1	0	0	0	0	0	0	0	1	18163	1451	51	3		3	ZNF799	19	12502822	Silent	SNP	T	TCGA-EM-A3AK-01A-11D-A202-08	11641868	12502822	46626161	16	4606											
RHPN2	85415	broad.mit.edu	37	chr19	33493198	33493198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagtagtgggccagggCcgcgtagtggtgggccttca	18	8	1	1			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:33493198C>A	uc002nuf.3	-	8	1126	c.1060G>T	c.(1060-1062)Gcc>Tcc	p.A354S	RHPN2_uc010xro.2_Missense_Mutation_p.A203S|RHPN2_uc002nue.3_Missense_Mutation_p.A84S	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	354	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.A353T(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGGGCCAGGGCCGCGTAGTGG	0.642													5	59					0	0	1	0	0	A	33493198	C	A	33493198	3	1	267	1	0	0	0	0	1	0	0	0	13351	739	26	4	1028	4	RHPN2	19	33493198	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08	20990376	33493198	25635785	17	4607											
PRKD3	23683	broad.mit.edu	37	chr2	37496767	37496767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttgcttacctccataaaCgatgccaaactggcctgaac	7	12	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr2:37496767C>T	uc002rqd.3	-	11	2323	c.1768G>A	c.(1768-1770)Gtt>Att	p.V590I	PRKD3_uc002rqe.1_Missense_Mutation_p.V190I|PRKD3_uc002rqf.1_Missense_Mutation_p.V590I	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	590	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CCTCCATAAACGATGCCAAAC	0.368													3	56					0	0	1	0	0	T	37496767	C	T	37496767	3	4	268	1	0	0	0	0	1	0	0	0	12520	536	19	1	932	1	PRKD3	2	37496767	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		37496767	205702606	1	4608											
GOLGA4	2803	broad.mit.edu	37	chr3	37323489	37323489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagaagctccagctccGggtgccctccgtggagtctt	12	14	1	1	rs7612972		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:37323489G>A	uc003cgw.3	+	3	629	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgv.3_Missense_Mutation_p.R68Q|GOLGA4_uc010hgs.3_Missense_Mutation_p.R68Q|GOLGA4_uc003cgx.3_5'Flank|GOLGA4_uc003cgu.2_Missense_Mutation_p.R90Q	NM_001172713	NP_001166184	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 1, mRNA.	68					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTCCAGCTCCGGGTGCCCTCC	0.443													3	92					0	0	1	0	0	A	37323489	G	A	37323489	3	1	268	1	0	0	0	0	1	0	0	0	6555	1116	39	1	283	1	GOLGA4	3	37323489	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		37323489	160698941	2	4609											
GPR156	165829	broad.mit.edu	37	chr3	119886716	119886716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactaacccgtgaccgccgCtctgggggctcctctgagtt	12	14	2	2			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:119886716C>A	uc011bjf.2	-	8	1988	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D	GPR156_uc011bjg.2_Missense_Mutation_p.E532D	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	536						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GTGACCGCCGCTCTGGGGGCT	0.592													6	315					0	0	1	0	0	A	119886716	C	A	119886716	3	1	268	1	0	0	0	0	1	0	0	0	6661	796	28	4	840	4	GPR156	3	119886716	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	82563227	119886716	78135714	3	4610											
LAMP3	27074	broad.mit.edu	37	chr3	182841901	182841901	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtatccagatgattgacaccTtaggcggattttatagacac	9	8	0	4			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:182841901T>A	uc003flh.4	-	5	1443	c.1219A>T	c.(1219-1221)Agg>Tgg	p.R407W		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	407					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GATTGACACCTTAGGCGGATT	0.458													5	145					0	0	1	0	0	A	182841901	T	A	182841901	3	1	268	1	0	0	0	0	1	0	0	0	8619	1608	56	5	35	5	LAMP3	3	182841901	Missense_Mutation	SNP	T	TCGA-EM-A3AL-01A-11D-A202-08	62955185	182841901	15180529	4	4611											
FRYL	285527	broad.mit.edu	37	chr4	48501632	48501632	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctgatgatggaaatatAtatgtaacagtgtctgtaca	10	5	2	2			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr4:48501632A>G	uc003gyh.1	-	63	9454	c.8849T>C	c.(8848-8850)aTa>aCa	p.I2950T	FRYL_uc003gye.1_Missense_Mutation_p.I132T|FRYL_uc003gyf.1_Missense_Mutation_p.I340T|FRYL_uc003gyg.1_Missense_Mutation_p.I1640T	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2950					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATGGAAATATATATGTAACAG	0.418													4	98					0	0	1	0	0	G	48501632	A	G	48501632	3	3	268	1	0	0	0	0	1	0	0	0	6064	449	16	3	196	3	FRYL	4	48501632	Missense_Mutation	SNP	A	TCGA-EM-A3AL-01A-11D-A202-08		48501632	142652644	5	4612											
MRPS30	10884	broad.mit.edu	37	chr5	44809124	44809124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggctttcattgcacacCgcggctaatgccgccgccac	10	17	1	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr5:44809124C>T	uc003joh.3	+	0	98	c.60C>T	c.(58-60)acC>acT	p.T20T	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.	20					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CATTGCACACCGCGGCTAATG	0.647													8	9					0	0	1	0	0	T	44809124	C	T	44809124	2	4	268	1	0	0	0	0	0	0	0	1	9840	639	23	1		1	MRPS30	5	44809124	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		44809124	136106136	6	4613											
NAIP	4671	broad.mit.edu	37	chr5	70308276	70308276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctagcctcctcttcttggTacctcattttacctcctctc	4	16	5	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr5:70308276T>C	uc003kar.1	-	3	1185	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.Y156C|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	156					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTCTTGGTACCTCATTTT	0.468													3	124					0	0	1	0	0	C	70308276	T	C	70308276	3	2	268	1	0	0	0	0	1	0	0	0	10147	1638	57	3	3800	3	NAIP	5	70308276	Missense_Mutation	SNP	T	TCGA-EM-A3AL-01A-11D-A202-08	25499152	70308276	110606984	7	4614											
OR2J2	26707	broad.mit.edu	37	chr6	29141930	29141930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacccctttgtggacatcGcctagtggatcacttcttct	9	12	3	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr6:29141930G>A	uc011dlm.2	+	0	620	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTGGACATCGCCTAGTGGAT	0.468													44	171					0	0	1	0	0	A	29141930	G	A	29141930	3	1	268	1	0	0	0	0	1	0	0	0	11003	1087	38	1	520	1	OR2J2	6	29141930	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		29141930	141973137	8	4615											
BAI3	577	broad.mit.edu	37	chr6	70034893	70034893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacggcttataagaaaaCgctttttgtgccttggatgg	12	7	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr6:70034893C>T	uc010kak.3	+	19	3220	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	BAI3_uc003pev.4_Missense_Mutation_p.R982C|BAI3_uc011dxx.2_Missense_Mutation_p.R188C	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	982					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATAAGAAAACGCTTTTTGTG	0.403													12	134					0	0	1	0	0	T	70034893	C	T	70034893	3	4	268	1	0	0	0	0	1	0	0	0	1300	536	19	1	3018	1	BAI3	6	70034893	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	40892963	70034893	101080174	9	4616											
INHBA	3624	broad.mit.edu	37	chr7	41739665	41739665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttccaatgtcatcctctAtctccacatacccgttctcc	2	18	4	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr7:41739665A>G	uc003thq.3	-	0	543	c.308T>C	c.(307-309)aTa>aCa	p.I103T	INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.I103T|INHBA-AS1_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	103					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTCATCCTCTATCTCCACATA	0.542										TSP Lung(11;0.080)			6	535					0	0	1	0	0	G	41739665	A	G	41739665	3	3	268	1	0	0	0	0	1	0	0	0	7741	449	16	3	980	3	INHBA	7	41739665	Missense_Mutation	SNP	A	TCGA-EM-A3AL-01A-11D-A202-08		41739665	117398998	10	4617											
ST18	9705	broad.mit.edu	37	chr8	53084925	53084925	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaatgaatcagaaagcactCgtctgcttcatcgctctctg	8	11	4	3			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr8:53084925C>A	uc003xqz.2	-	4	652	c.496G>T	c.(496-498)Gag>Tag	p.E166*	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Nonsense_Mutation_p.E131*|ST18_uc011lds.1_Nonsense_Mutation_p.E71*|ST18_uc003xra.2_Nonsense_Mutation_p.E166*|ST18_uc003xrb.2_Nonsense_Mutation_p.E166*	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAAAGCACTCGTCTGCTTCA	0.398													3	87					0	0	1	0	0	A	53084925	C	A	53084925	4	1	268	1	0	0	0	0	0	1	0	0	15211	893	31	4	2715	4	ST18	8	53084925	Nonsense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		53084925	93279097	11	4618											
ENPP2	5168	broad.mit.edu	37	chr8	120606083	120606083	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccacaattttgtcgatttcCctcagaggatttgtcatcta	6	11	3	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr8:120606083C>G	uc003yos.2	-	12	1232	c.1146G>C	c.(1144-1146)agG>agC	p.R382S	ENPP2_uc003yor.2_5'Flank|ENPP2_uc010mdd.2_Missense_Mutation_p.R330S|ENPP2_uc003yot.2_Missense_Mutation_p.R330S	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	330					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTCGATTTCCCTCAGAGGAT	0.423													11	335					0	0	1	0	0	G	120606083	C	G	120606083	3	3	268	1	0	0	0	0	1	0	0	0	5130	622	22	4	1736	4	ENPP2	8	120606083	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	67521158	120606083	25757939	12	4619											
GAS1	2619	broad.mit.edu	37	chr9	89560958	89560958	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggggccgttgcccagctcgGcgccgaagcacaggcgggcc	17	16	0	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr9:89560958G>C	uc004aox.4	-	0	1147	c.737C>G	c.(736-738)gCc>gGc	p.A246G	BC036850_uc004aoy.3_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	Homo sapiens growth arrest-specific 1 (GAS1), mRNA.	246					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane				kidney(1)|lung(2)|skin(1)	4						GCCCAGCTCGGCGCCGAAGCA	0.701													4	28					0	0	1	0	0	C	89560958	G	C	89560958	3	2	268	1	0	0	0	0	1	0	0	0	6244	1203	42	4	304	4	GAS1	9	89560958	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		89560958	51652473	13	4620											
RPL12	6136	broad.mit.edu	37	chr9	130213590	130213590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgttggggtcgaacttcgGcggcatggtggaggcggctg	19	9	0	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr9:130213590G>A	uc004bqy.2	-	0	122	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	RPL12_uc004bqz.2_Missense_Mutation_p.P3S|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.2_5'Flank|LRSAM1_uc010mxk.2_5'Flank|LRSAM1_uc004brc.2_5'Flank|LRSAM1_uc004brd.2_5'Flank	NM_000976	NP_000967	P30050	RL12_HUMAN	Homo sapiens ribosomal protein L12 (RPL12), mRNA.	3					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	p.P3P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCGAACTTCGGCGGCATGGTG	0.657													6	67					0	0	1	0	0	A	130213590	G	A	130213590	3	1	268	1	0	0	0	0	1	0	0	0	13558	1203	42	2	518	2	RPL12	9	130213590	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08	40652632	130213590	10999841	14	4621											
PAWR	5074	broad.mit.edu	37	chr12	80083954	80083954	+	Frame_Shift_Del	DEL	T	T	-													gcatcttctcgcgtttcgccTtccactcctccaggaagtct							TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr12:80083954delT	uc001syx.3	-	1	357	c.71delA	c.(70-72)aagfs	p.K24fs		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.	24					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCGTTTCGCCTTCCACTCCTC	0.731													2	4	---	---	---	---						-	80083954	T	-	80083954	7	5	268	1	0	1	0	1	0	0	0	0	11477	1609	56	0	975	0	PAWR	12	80083954	Frame_Shift_Del	DEL	T	TCGA-EM-A3AL-01A-11D-A202-08		80083954	53767941	15	4622											
DCT	1638	broad.mit.edu	37	chr13	95121126	95121126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgttgtgtggtgatcaCgtagtcggggtgtactctct	14	8	2	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr13:95121126C>T	uc010afh.3	-	1	896	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	DCT_uc001vlv.4_Missense_Mutation_p.V157M	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	157					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTGGTGATCACGTAGTCGGGG	0.517													96	180					0	0	1	0	0	T	95121126	C	T	95121126	3	4	268	1	0	0	0	0	1	0	0	0	4304	536	19	1	1225	1	DCT	13	95121126	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		95121126	20048752	16	4623											
ADSSL1	122622	broad.mit.edu	37	chr14	105212622	105212622	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtatgaaacgctgccTgggtggaaagcagacaccac	13	9	0	3			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr14:105212622T>G	uc001ype.3	+	11	1352	c.1350T>G	c.(1348-1350)ccT>ccG	p.P450P	ADSSL1_uc001ypd.3_Silent_p.P407P|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_199165	NP_954634	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 1, mRNA.	407					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AAACGCTGCCTGGGTGGAAAG	0.587													7	79					0	0	1	0	0	G	105212622	T	G	105212622	2	3	268	1	0	0	0	0	0	0	0	1	348	1567	55	5		5	ADSSL1	14	105212622	Silent	SNP	T	TCGA-EM-A3AL-01A-11D-A202-08		105212622	2136918	17	4624											
SLC12A6	9990	broad.mit.edu	37	chr15	34537938	34537938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcaatagcttgtagcaGcctcggtgcacctgtgaggc	13	11	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr15:34537938G>A	uc001zhw.3	-	12	1944	c.1780C>T	c.(1780-1782)Ctg>Ttg	p.L594L	SLC12A6_uc001zhv.3_Silent_p.L543L|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.L579L|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.L535L|SLC12A6_uc001zib.3_Silent_p.L585L|SLC12A6_uc001zic.3_Silent_p.L594L|SLC12A6_uc010bau.3_Silent_p.L594L|SLC12A6_uc001zid.3_Silent_p.L535L|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.L406L	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	594					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTTGTAGCAGCCTCGGTGCA	0.473													5	89					0	0	1	0	0	A	34537938	G	A	34537938	2	1	268	1	0	0	0	0	0	0	0	1	14387	962	34	2		2	SLC12A6	15	34537938	Silent	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		34537938	67993454	18	4625											
NKD1	85407	broad.mit.edu	37	chr16	50666208	50666208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggttccagggtgacagcCgcctggagcagtctggctgc	16	11	1	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr16:50666208C>T	uc002egg.2	+	8	936	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	238					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GGGTGACAGCCGCCTGGAGCA	0.562													27	37					0	0	1	0	0	T	50666208	C	T	50666208	3	4	268	1	0	0	0	0	1	0	0	0	10441	652	23	1	746	1	NKD1	16	50666208	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		50666208	39688545	19	4626											
PLD2	5338	broad.mit.edu	37	chr17	4719165	4719165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggaccttgcctatggccGctgggatgacctgcactacc	11	14	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:4719165G>A	uc002fzc.3	+	13	1517	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	PLD2_uc010vsj.2_Missense_Mutation_p.R321H|PLD2_uc002fzd.3_Missense_Mutation_p.R464H	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	464	Catalytic.|PLD phosphodiesterase 1.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCCTATGGCCGCTGGGATGAC	0.597											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	140					0	0	1	0	0	A	4719165	G	A	4719165	3	1	268	1	0	0	0	0	1	0	0	0	12046	1087	38	1	1441	1	PLD2	17	4719165	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		4719165	76476045	20	4627											
RHBDL3	162494	broad.mit.edu	37	chr17	30615975	30615975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattgaccgcaagtggtaCtatgacagctacacctgctg	10	10	0	2			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:30615975C>T	uc010csx.1	+	3	473	c.459C>T	c.(457-459)taC>taT	p.Y153Y	RHBDL3_uc002hhe.1_Silent_p.Y153Y|RHBDL3_uc010csw.1_Silent_p.Y145Y|RHBDL3_uc010csy.1_Silent_p.Y55Y|RHBDL3_uc002hhf.1_Silent_p.Y55Y			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	153					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GCAAGTGGTACTATGACAGCT	0.622													34	52					0	0	1	0	0	T	30615975	C	T	30615975	2	4	268	1	0	0	0	0	0	0	0	1	13323	576	20	2		2	RHBDL3	17	30615975	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	25896810	30615975	50579235	21	4628											
MRPS23	51649	broad.mit.edu	37	chr17	55918341	55918341	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccttctgccaataaagccttCcctgtttccacaaataactt	3	14	1	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:55918341C>G	uc002ivc.3	-	3	428	c.366G>C	c.(364-366)ggG>ggC	p.G122G		NM_016070	NP_057154	Q9Y3D9	RT23_HUMAN	Homo sapiens mitochondrial ribosomal protein S23 (MRPS23), nuclear gene encoding mitochondrial protein, mRNA.	122					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	p.G122R(1)		endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ATAAAGCCTTCCCTGTTTCCA	0.398													3	144					0	0	1	0	0	G	55918341	C	G	55918341	2	3	268	1	0	0	0	0	0	0	0	1	9834	842	30	4		4	MRPS23	17	55918341	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	25302366	55918341	25276869	22	4629											
DTNA	1837	broad.mit.edu	37	chr18	32374191	32374191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcagcctcctccttaaCttcctgcttgcagcgtttga	6	15	1	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr18:32374191C>T	uc010dmn.1	+	2	340	c.339C>T	c.(337-339)aaC>aaT	p.N113N	DTNA_uc002kxu.2_Silent_p.N113N|DTNA_uc010xbx.2_Silent_p.N113N|DTNA_uc002kxv.4_Silent_p.N113N|DTNA_uc002kxw.2_Silent_p.N113N|DTNA_uc002kxx.2_Silent_p.N113N|DTNA_uc002kxz.2_Silent_p.N113N|DTNA_uc002kxy.2_Silent_p.N113N|DTNA_uc010dmj.3_Silent_p.N113N|DTNA_uc002kyb.4_Silent_p.N113N|DTNA_uc010dml.3_Silent_p.N113N|DTNA_uc010dmm.3_Silent_p.N113N	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	113	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCCTCCTTAACTTCCTGCTTG	0.473													13	95					0	0	1	0	0	T	32374191	C	T	32374191	2	4	268	1	0	0	0	0	0	0	0	1	4788	564	20	2		2	DTNA	18	32374191	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		32374191	45703057	23	4630											
CDS2	8760	broad.mit.edu	37	chr20	5169753	5169753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagattcacagcatcgCtctctccacctttgcctcgc	5	18	2	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr20:5169753C>T	uc002wls.3	+	10	1354	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V	CDS2_uc002wlw.3_Missense_Mutation_p.A221V|CDS2_uc002wlv.3_Missense_Mutation_p.A243V|CDS2_uc010zqv.2_Missense_Mutation_p.A111V	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	341					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CACAGCATCGCTCTCTCCACC	0.458													46	75					0	0	1	0	0	T	5169753	C	T	5169753	3	4	268	1	0	0	0	0	1	0	0	0	3178	797	28	2	1064	2	CDS2	20	5169753	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		5169753	57855767	24	4631											
DSCAM	1826	broad.mit.edu	37	chr21	41648055	41648055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtacatggacttgctgacGtctgcgcccacatcgttgct	11	12	1	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr21:41648055G>A	uc002yyq.1	-	10	2777	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	775	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTGCTGACGTCTGCGCCCA	0.468													5	92					0	0	1	0	0	A	41648055	G	A	41648055	2	1	268	1	0	0	0	0	0	0	0	1	4768	1136	40	1		1	DSCAM	21	41648055	Silent	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		41648055	6481840	25	4632											
CSF2RB	1439	broad.mit.edu	37	chr22	37325500	37325500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgaccaggaccacttcctgCtgacctggagtgtggccctt	11	15	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr22:37325500C>A	uc003aqc.4	+	3	620	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	CSF2RB_uc003aqa.4_Missense_Mutation_p.L150M	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	150	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCACTTCCTGCTGACCTGGAG	0.627													4	169					0	0	1	0	0	A	37325500	C	A	37325500	3	1	268	1	0	0	0	0	1	0	0	0	3935	796	28	4	462	4	CSF2RB	22	37325500	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		37325500	13979066	26	4633											
CSF2RA	1438	broad.mit.edu	37	chrX	1407736	1407736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgggcgaggggtccgaCggccccccgtgacgtccagt	15	15	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:1407736C>T	uc010ncv.2	+	3	454	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T143M|CSF2RA_uc010nct.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpq.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpn.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T143M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.T10M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T143M	NM_001161530	NP_001155002	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 8, mRNA.	143						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGGGTCCGACGGCCCCCCGT	0.473													11	142					0	0	1	0	0	T	1407736	C	T	1407736	3	4	268	1	0	0	0	0	1	0	0	0	3934	536	19	1	442	1	CSF2RA	23	1407736	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		1407736	153862824	27	4634											
PRPS2	5634	broad.mit.edu	37	chrX	12837725	12837725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatggtcctggtgggcgaCgtgaaggaccgtgtggccat	18	9	0	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:12837725C>T	uc004cva.3	+	4	782	c.639C>T	c.(637-639)gaC>gaT	p.D213D	PRPS2_uc004cvb.3_Silent_p.D210D|PRPS2_uc010nec.3_Intron	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	210	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGGTGGGCGACGTGAAGGACC	0.552													97	230					0	0	1	0	0	T	12837725	C	T	12837725	2	4	268	1	0	0	0	0	0	0	0	1	12580	535	19	1		1	PRPS2	23	12837725	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	11429989	12837725	142432835	28	4635											
COL4A5	1287	broad.mit.edu	37	chrX	107869596	107869596	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtaatctttggcatatAgttttaggcacatacttgag	9	5	1	1			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:107869596A>G	uc004eob.1	+	19	2719	c.2087A>G	c.(2086-2088)tAg>tGg	p.*696W	COL4A5_uc004enz.1_Intron|COL4A5_uc022ccg.1_Intron	NM_000495	NP_000486	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 1, mRNA.	0	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGGCATATAGTTTTAGGCA	0.373									Alport syndrome with Diffuse Leiomyomatosis				33	76					0	0	1	0	0	G	107869596	A	G	107869596	4	3	268	1	0	0	0	0	0	0	0	0	3694	435	15	3		3	COL4A5	23	107869596	Nonstop_Mutation	SNP	A	TCGA-EM-A3AL-01A-11D-A202-08	95031871	107869596	47400964	29	4636											
CNGA2	1260	broad.mit.edu	37	chrX	150911807	150911807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcttccgcatcagcaacCttgtcctctacatcttggtc	5	15	4	0			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:150911807C>T	uc004fey.1	+	6	1056	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	278					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CATCAGCAACCTTGTCCTCTA	0.512													4	222					0	0	1	0	0	T	150911807	C	T	150911807	3	4	268	1	0	0	0	0	1	0	0	0	3597	681	24	2	854	2	CNGA2	23	150911807	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	43042211	150911807	4358753	30	4637											
PRDM2	7799	broad.mit.edu	37	chr1	14059320	14059320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaaaaaatttgggccAtttgttggtgataagaaaaa	10	3	0	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr1:14059320A>G	uc001avi.3	+	3	1030	c.174A>G	c.(172-174)ccA>ccG	p.P58P	PRDM2_uc001avg.3_Silent_p.P58P|PRDM2_uc001avh.3_Silent_p.P58P	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	58	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AATTTGGGCCATTTGTTGGTG	0.289													3	59					0	0	1	0	0	G	14059320	A	G	14059320	2	3	269	1	0	0	0	0	0	0	0	1	12458	204	8	3		3	PRDM2	1	14059320	Silent	SNP	A	TCGA-EM-A3AN-01A-11D-A202-08		14059320	235191301	1	4638											
POLR3C	10623	broad.mit.edu	37	chr1	145608142	145608142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaggaaccaggtacatgtcCttttcattaatgacaagtgt	8	7	1	1			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr1:145608142C>A	uc001eog.3	-	3	637	c.594G>T	c.(592-594)aaG>aaT	p.K198N	RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.K185N|POLR3C_uc009wix.3_Missense_Mutation_p.K185N	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	185					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.K185N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGTACATGTCCTTTTCATTAA	0.468													4	135					0	0	1	0	0	A	145608142	C	A	145608142	3	1	269	1	0	0	0	0	1	0	0	0	12230	680	24	4	1097	4	POLR3C	1	145608142	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08	131548822	145608142	103642479	2	4639											
ALMS1	7840	broad.mit.edu	37	chr2	73828375	73828375	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtctagatcaaagaaggaaAacgtgcctaacacttgtggc	10	8	2	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr2:73828375A>T	uc002sje.1	+	18	12034	c.11923A>T	c.(11923-11925)Aac>Tac	p.N3975Y	ALMS1_uc002sjf.1_Missense_Mutation_p.N3933Y|ALMS1_uc002sjh.1_Missense_Mutation_p.N3363Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3975					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.N3975N(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAGAAGGAAAACGTGCCTAA	0.468													6	203					0	0	1	0	0	T	73828375	A	T	73828375	3	4	269	1	0	0	0	0	1	0	0	0	535	14	1	5	11997	5	ALMS1	2	73828375	Missense_Mutation	SNP	A	TCGA-EM-A3AN-01A-11D-A202-08		73828375	169370998	3	4640											
ALS2CR12	130540	broad.mit.edu	37	chr2	202216069	202216069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggtcttgattagcttcCgtggtcccaagttccagggg	15	9	1	1	rs142397497		TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr2:202216069C>T	uc010ftg.3	-	1	503	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	ALS2CR12_uc002uya.4_Missense_Mutation_p.R20Q|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	20					regulation of GTPase activity		protein binding	p.R20Q(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GATTAGCTTCCGTGGTCCCAA	0.557													25	49					0	0	1	0	0	T	202216069	C	T	202216069	3	4	269	1	0	0	0	0	1	0	0	0	553	652	23	1	1334	1	ALS2CR12	2	202216069	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08	128387694	202216069	40983304	4	4641											
IP6K2	51447	broad.mit.edu	37	chr3	48732456	48732456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggatggctgccagggcCttccatggccacgatctctc	12	15	1	0			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr3:48732456C>A	uc011bbv.2	-	2	866	c.443G>T	c.(442-444)aGg>aTg	p.R148M	IP6K2_uc003cuq.3_Intron|IP6K2_uc003cup.3_Intron|IP6K2_uc011bbs.2_Intron|IP6K2_uc003cut.3_Intron|IP6K2_uc003cus.3_Intron|IP6K2_uc003cur.3_Intron|IP6K2_uc011bbu.2_Missense_Mutation_p.R144M|IP6K2_uc011bbr.2_Intron|IP6K2_uc011bbt.2_Missense_Mutation_p.R145M|IP6K2_uc011bbq.2_Intron	NM_001190317	NP_001177246	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 10, mRNA.	177					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CTGCCAGGGCCTTCCATGGCC	0.607													13	24					0	0	1	0	0	A	48732456	C	A	48732456	3	1	269	1	0	0	0	0	1	0	0	0	7789	681	24	4	1384	4	IP6K2	3	48732456	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		48732456	149289974	5	4642											
UGT2A1	10941	broad.mit.edu	37	chr4	70505028	70505028	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtagaaagcccatattgtgaGaggagttggtctatggtcaa	13	5	2	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:70505028G>T	uc011caq.2	-	2	1050	c.934C>A	c.(934-936)Ctc>Atc	p.L312I	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.L111I|UGT2A1_uc021xox.1_Missense_Mutation_p.L111I|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	102					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATATTGTGAGAGGAGTTGGT	0.353													4	73					0	0	1	0	0	T	70505028	G	T	70505028	3	4	269	1	0	0	0	0	1	0	0	0	16950	942	33	4		4	UGT2A1	4	70505028	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		70505028	120649248	6	4643											
INTU	27152	broad.mit.edu	37	chr4	128627849	128627850	+	Frame_Shift_Ins	INS	-	-	A													gttccttactggatcacgtgINSaaaaaacagatagcttgacc							TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:128627849_128627850insA	uc003ifk.2	+	11	2099_2100	c.1996_1997insA	c.(1996-1998)gaafs	p.E666fs	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	666										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGGATCACGTGAAAAAACAGAT	0.465													40	87	---	---	---	---						A	128627850	-	A	128627849	7	5	269	1	0	1	1	0	0	0	0	0	7786	1291	45	0	2042	0	INTU	4	128627849	Frame_Shift_Ins	INS	-	TCGA-EM-A3AN-01A-11D-A202-08	58122821	128627849	62526427	7	4644											
NR3C2	4306	broad.mit.edu	37	chr4	149075797	149075797	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttcggctgtatctggttttGagctgtcatagcctgcatat	10	8	2	1			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:149075797G>C	uc003ilj.4	-	4	2633	c.2270C>G	c.(2269-2271)tCa>tGa	p.S757*	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	757	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S756C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATCTGGTTTTGAGCTGTCATA	0.493													4	215					0	0	1	0	0	C	149075797	G	C	149075797	4	2	269	1	0	0	0	0	0	1	0	0	10631	1294	45	4	704	4	NR3C2	4	149075797	Nonsense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08	20447948	149075797	42078479	8	4645											
HACE1	57531	broad.mit.edu	37	chr6	105198273	105198273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgaacatatgaaagccCtgtaaaaaagcattgatctg	9	6	1	3			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr6:105198273C>A	uc003pqu.1	-	19	2563	c.2286G>T	c.(2284-2286)caG>caT	p.Q762H	HACE1_uc010kcy.1_Missense_Mutation_p.Q244H|HACE1_uc010kcz.1_Missense_Mutation_p.Q547H|HACE1_uc010kcx.1_Missense_Mutation_p.Q171H|HACE1_uc003pqt.1_Missense_Mutation_p.Q415H	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	762	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TATGAAAGCCCTGTAAAAAAG	0.383													3	43					0	0	1	0	0	A	105198273	C	A	105198273	3	1	269	1	0	0	0	0	1	0	0	0	6940	680	24	4	463	4	HACE1	6	105198273	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		105198273	65916794	9	4646											
TSPAN33	340348	broad.mit.edu	37	chr7	128801563	128801563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgtctacgctcggcTaatgaagcatgcaggtgagc	15	8	1	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr7:128801563T>C	uc003vop.2	+	1	255	c.146T>C	c.(145-147)cTa>cCa	p.L49P		NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	49						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TACGCTCGGCTAATGAAGCAT	0.572													3	175					0	0	1	0	0	C	128801563	T	C	128801563	3	2	269	1	0	0	0	0	1	0	0	0	16645	1522	53	3	152	3	TSPAN33	7	128801563	Missense_Mutation	SNP	T	TCGA-EM-A3AN-01A-11D-A202-08		128801563	30337100	10	4647											
CSMD1	64478	broad.mit.edu	37	chr8	3008978	3008978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgttggggtaagaacctGggaagccggggctcaggatc	17	7	1	1			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr8:3008978G>T	uc022aqr.1	-	39	6362	c.5972C>A	c.(5971-5973)cCa>cAa	p.P1991Q	CSMD1_uc011kwj.2_Missense_Mutation_p.P1384Q|CSMD1_uc003wqe.3_Missense_Mutation_p.P1148Q|CSMD1_uc010lrg.3_Missense_Mutation_p.P60Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1992	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAAGAACCTGGGAAGCCGGG	0.488													10	28					0	0	1	0	0	T	3008978	G	T	3008978	3	4	269	1	0	0	0	0	1	0	0	0	3944	1348	47	4	4846	4	CSMD1	8	3008978	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		3008978	143355044	11	4648											
OR4C6	219432	broad.mit.edu	37	chr11	55432991	55432991	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcctcactgtgatgGcctatgaccgctacgtggcc	9	15	2	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr11:55432991G>C	uc010rik.2	+	0	349	c.349G>C	c.(349-351)Gcc>Ccc	p.A117P		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACTGTGATGGCCTATGACCG	0.567													3	98					0	0	1	0	0	C	55432991	G	C	55432991	3	2	269	1	0	0	0	0	1	0	0	0	11052	1203	42	4	351	4	OR4C6	11	55432991	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		55432991	79573525	12	4649											
SSTR2	6752	broad.mit.edu	37	chr17	71166132	71166132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtacccctcaccatcatctGtctttgctacctgttcatta	5	14	5	0			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr17:71166132G>T	uc002jje.3	+	1	1034	c.674G>T	c.(673-675)tGt>tTt	p.C225F	SSTR2_uc021ucm.1_Missense_Mutation_p.C225F	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	225					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			ACCATCATCTGTCTTTGCTAC	0.502													18	145					0	0	1	0	0	T	71166132	G	T	71166132	3	4	269	1	0	0	0	0	1	0	0	0	15197	1377	48	4	676	4	SSTR2	17	71166132	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		71166132	10029078	13	4650											
KLHL14	57565	broad.mit.edu	37	chr18	30349946	30349946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtacttgttggccagCttcttggtctcctccaggcc	10	14	2	0			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr18:30349946C>T	uc002kxm.1	-	1	997	c.609G>A	c.(607-609)aaG>aaA	p.K203K		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	203						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTTGGCCAGCTTCTTGGTCT	0.627													4	114					0	0	1	0	0	T	30349946	C	T	30349946	2	4	269	1	0	0	0	0	0	0	0	1	8370	796	28	2		2	KLHL14	18	30349946	Silent	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		30349946	47727302	14	4651											
POU2F2	5452	broad.mit.edu	37	chr19	42603703	42603703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaagcccggcccggggCtgggaggtcagaagagctcc	19	11	1	2			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr19:42603703C>A	uc002osp.3	-	6	539	c.477G>T	c.(475-477)caG>caT	p.Q159H	POU2F2_uc002osn.3_Missense_Mutation_p.Q159H|POU2F2_uc002osq.3_Missense_Mutation_p.Q159H|POU2F2_uc002osr.2_Missense_Mutation_p.Q159H	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	159					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CGGCCCGGGGCTGGGAGGTCA	0.607													14	32					0	0	1	0	0	A	42603703	C	A	42603703	3	1	269	1	0	0	0	0	1	0	0	0	12272	796	28	4	946	4	POU2F2	19	42603703	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		42603703	16525280	15	4652											
PDE5A	8654	broad.mit.edu	37	chr4	120463753	120463753	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaggcttaaccttgccaGtattctcctccatcttatta	5	11	2	1			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr4:120463753G>C	uc003idh.3	-	9	1588	c.1433C>G	c.(1432-1434)aCt>aGt	p.T478S	PDE5A_uc003idf.3_Missense_Mutation_p.T436S|PDE5A_uc003idg.3_Missense_Mutation_p.T426S|AF085995_uc003idi.4_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	478	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AACCTTGCCAGTATTCTCCTC	0.388													33	56					0	0	1	0	0	C	120463753	G	C	120463753	3	2	270	1	0	0	0	0	1	0	0	0	11644	1029	36	4	1242	4	PDE5A	4	120463753	Missense_Mutation	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		120463753	70690523	1	4653											
DLGAP2	9228	broad.mit.edu	37	chr8	1497638	1497638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcggggacctgtcccTcaagacctccaagagcaaca	8	17	1	2			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr8:1497638T>C	uc003wpl.3	+	1	876	c.779T>C	c.(778-780)cTc>cCc	p.L260P	DLGAP2_uc003wpm.3_Missense_Mutation_p.L260P	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	339					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GACCTGTCCCTCAAGACCTCC	0.667													3	127					0	0	1	0	0	C	1497638	T	C	1497638	3	2	270	1	0	0	0	0	1	0	0	0	4560	1551	54	3	781	3	DLGAP2	8	1497638	Missense_Mutation	SNP	T	TCGA-EM-A3AO-01A-11D-A202-08		1497638	144866384	2	4654											
TG	7038	broad.mit.edu	37	chr8	133883736	133883736	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaggtccagtgctggTgtgtggacgcagaggggatg	19	7	0	1			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr8:133883736T>G	uc003ytw.3	+	3	459	c.418T>G	c.(418-420)Tgt>Ggt	p.C140G		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	140	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAGTGCTGGTGTGTGGACGC	0.597													27	50					0	0	1	0	0	G	133883736	T	G	133883736	3	3	270	1	0	0	0	0	1	0	0	0	15810	1696	59	5	432	5	TG	8	133883736	Missense_Mutation	SNP	T	TCGA-EM-A3AO-01A-11D-A202-08	132386098	133883736	12480286	3	4655											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57075943	57075943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccaaggaagacgaggaGtaatcttcaccctgggtctc	12	11	3	1			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr11:57075943G>A	uc001njr.3	-	4	4554	c.4242C>T	c.(4240-4242)taC>taT	p.Y1414Y	TNKS1BP1_uc001njs.3_Silent_p.Y1414Y|TNKS1BP1_uc009ymd.1_Silent_p.Y865Y	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1414	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AAGACGAGGAGTAATCTTCAC	0.602													130	287					0	0	1	0	0	A	57075943	G	A	57075943	2	1	270	1	0	0	0	0	0	0	0	1	16317	1024	36	2		2	TNKS1BP1	11	57075943	Silent	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		57075943	77930573	4	4656											
MYH6	4624	broad.mit.edu	37	chr14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcattggggatgatgcaaCgcacaaagtgaggatgggtg	16	6	1	2			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr14:23866411C>T	uc001wjv.3	-	16	2089	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	673	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R673H(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATGCAACGCACAAAGTG	0.542													64	138					0	0	1	0	0	T	23866411	C	T	23866411	3	4	270	1	0	0	0	0	1	0	0	0	10038	536	19	1	3893	1	MYH6	14	23866411	Missense_Mutation	SNP	C	TCGA-EM-A3AO-01A-11D-A202-08		23866411	83483129	5	4657											
ITGAL	3683	broad.mit.edu	37	chr16	30495432	30495432	+	Splice_Site	DEL	A	A	-													ttcactctccactccctcacAgattggaaagcattttcaga							TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr16:30495432delA	uc002dyi.4	+	9	1032	c.856_splice	c.e9-2	p.I286_splice	ITGAL_uc010veu.1_Splice_Site|ITGAL_uc002dyj.4_Splice_Site_p.I203_splice|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	286	VWFA.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACTCCCTCACAGATTGGAAAG	0.488													82	147	---	---	---	---						-	30495432	A	-	30495432	8	5	270	1	0	1	0	1	0	0	1	0	7886	202	7	0	888	0	ITGAL	16	30495432	Splice_Site	DEL	A	TCGA-EM-A3AO-01A-11D-A202-08		30495432	59859321	6	4658											
NEK8	284086	broad.mit.edu	37	chr17	27068491	27068491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgggaaggagggatgaggAtgccggactccctcggccag	17	9	0	1			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr17:27068491A>G	uc002hcp.3	+	13	1952	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	651						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGGGATGAGGATGCCGGACTC	0.592													26	52					0	0	1	0	0	G	27068491	A	G	27068491	3	3	270	1	0	0	0	0	1	0	0	0	10330	333	12	3	2006	3	NEK8	17	27068491	Missense_Mutation	SNP	A	TCGA-EM-A3AO-01A-11D-A202-08		27068491	54126719	7	4659											
BCAS3	54828	broad.mit.edu	37	chr17	59024649	59024649	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaaattctgactcatccttGgtcctcatcacaatgtgctg	6	13	4	1			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr17:59024649G>C	uc002iyv.4	+	13	1266	c.1157G>C	c.(1156-1158)tGg>tCg	p.W386S	BCAS3_uc010wow.1_Missense_Mutation_p.W173S|BCAS3_uc002iyu.4_Missense_Mutation_p.W386S|BCAS3_uc002iyw.4_Missense_Mutation_p.W382S|BCAS3_uc002iyx.1_Missense_Mutation_p.W201S|BCAS3_uc002iyy.4_Missense_Mutation_p.W157S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	386						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ACTCATCCTTGGTCCTCATCA	0.413													7	209					0	0	1	0	0	C	59024649	G	C	59024649	3	2	270	1	0	0	0	0	1	0	0	0	1352	1357	47	4	1207	4	BCAS3	17	59024649	Missense_Mutation	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08	31956158	59024649	22170561	8	4660											
KCNG2	26251	broad.mit.edu	37	chr18	77659600	77659600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcctcagcggcatcctGctcatggccttcccggtcac	9	17	3	0			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr18:77659600G>A	uc010xfl.2	+	1	1185	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	395					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGGCATCCTGCTCATGGCCT	0.692													7	73					0	0	1	0	0	A	77659600	G	A	77659600	2	1	270	1	0	0	0	0	0	0	0	1	8028	1306	46	2		2	KCNG2	18	77659600	Silent	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		77659600	417648	9	4661											
LRRN4	164312	broad.mit.edu	37	chr20	6022440	6022440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacgaggtagggaaggggCccaggagcttgctggccagt	17	11	0	0			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr20:6022440C>T	uc002wmo.2	-	4	1675	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	484						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGGGAAGGGGCCCAGGAGCTT	0.657													45	115					0	0	1	0	0	T	6022440	C	T	6022440	3	4	270	1	0	0	0	0	1	0	0	0	9037	739	26	2	775	2	LRRN4	20	6022440	Missense_Mutation	SNP	C	TCGA-EM-A3AO-01A-11D-A202-08		6022440	57003080	10	4662											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			90	204					0	0	1	0	0	T	115256530	G	T	115256530	3	4	271	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		115256530	133994091	1	4663											
KIF14	9928	broad.mit.edu	37	chr1	200539119	200539119	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagaaattcttctgttcttcAtcaaactcctactcctgaaa	3	12	5	2			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:200539119A>T	uc010ppk.1	-	22	4020	c.3581T>A	c.(3580-3582)aTg>aAg	p.M1194K	KIF14_uc010ppj.1_Missense_Mutation_p.M703K	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1194	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTGTTCTTCATCAAACTCCT	0.289													41	84					0	0	1	0	0	T	200539119	A	T	200539119	3	4	271	1	0	0	0	0	1	0	0	0	8276	217	8	5	1397	5	KIF14	1	200539119	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	85282589	200539119	48711502	2	4664											
OR2M2	391194	broad.mit.edu	37	chr1	248344320	248344320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatactagcattgattatgTacattgcctaacatatttat	4	6	0	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:248344320T>C	uc010pzf.2	+	0	1033	c.1033T>C	c.(1033-1035)Tac>Cac	p.Y345H		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	345					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGATTATGTACATTGCCTA	0.264													4	146					0	0	1	0	0	C	248344320	T	C	248344320	3	2	271	1	0	0	0	0	1	0	0	0	11010	1638	57	3	1035	3	OR2M2	1	248344320	Missense_Mutation	SNP	T	TCGA-EM-A3AP-01A-12D-A20C-08	47805201	248344320	906301	3	4665											
TMEM89	440955	broad.mit.edu	37	chr3	48658391	48658391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtgcaggaccccacggaGcagggtgtggtctgagattg	16	9	1	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr3:48658391G>A	uc011bbo.2	-	1	364	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	122						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACCCCACGGAGCAGGGTGTGG	0.612													3	118					0	0	1	0	0	A	48658391	G	A	48658391	3	1	271	1	0	0	0	0	1	0	0	0	16210	971	34	2	118	2	TMEM89	3	48658391	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		48658391	149364039	4	4666											
CPE	1363	broad.mit.edu	37	chr4	166416761	166416761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctggaaactataaacttAcagcctcagctccaggctat	6	12	1	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr4:166416761A>G	uc003irg.4	+	7	1541	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	422					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATAAACTTACAGCCTCAGC	0.408													10	181					0	0	1	0	0	G	166416761	A	G	166416761	3	3	271	1	0	0	0	0	1	0	0	0	3799	391	14	3	1294	3	CPE	4	166416761	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		166416761	24737515	5	4667											
IK	3550	broad.mit.edu	37	chr5	140032663	140032663	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagagatggagtgaacaaagAttatgaagaaaccgagctta	12	4	0	5			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr5:140032663A>T	uc003lgq.3	+	4	448	c.338A>T	c.(337-339)gAt>gTt	p.D113V	IK_uc011czk.1_Missense_Mutation_p.D113V|IK_uc021yen.1_Missense_Mutation_p.D54V	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	113					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACAAAGATTATGAAGAA	0.502													34	80					0	0	1	0	0	T	140032663	A	T	140032663	3	4	271	1	0	0	0	0	1	0	0	0	7608	333	12	5	356	5	IK	5	140032663	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		140032663	40882597	6	4668											
ADAMTS2	9509	broad.mit.edu	37	chr5	178541107	178541107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgcttggtgatggccGcacctccatggctacagtgg	17	10	0	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr5:178541107G>A	uc003mjw.3	-	21	3499	c.3397C>T	c.(3397-3399)Cgg>Tgg	p.R1133W		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1133					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1133Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGATGGCCGCACCTCCATG	0.587													4	183					0	0	1	0	0	A	178541107	G	A	178541107	3	1	271	1	0	0	0	0	1	0	0	0	265	1086	38	1	242	1	ADAMTS2	5	178541107	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08	38508444	178541107	2374153	7	4669											
GPR116	221395	broad.mit.edu	37	chr6	46849818	46849818	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcacgcccttgaagccTggtaaaattccgtaaccctt	7	13	1	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr6:46849818T>C	uc003oyo.3	-	6	928	c.639A>G	c.(637-639)ccA>ccG	p.P213P	GPR116_uc003oyp.3_Silent_p.P213P|GPR116_uc003oyq.3_Silent_p.P213P|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.P213P	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	213	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTTGAAGCCTGGTAAAATTC	0.378													4	346					0	0	1	0	0	C	46849818	T	C	46849818	2	2	271	1	0	0	0	0	0	0	0	1	6633	1567	55	3		3	GPR116	6	46849818	Silent	SNP	T	TCGA-EM-A3AP-01A-12D-A20C-08		46849818	124265249	8	4670											
COL22A1	169044	broad.mit.edu	37	chr8	139890069	139890069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacgtggaagacgtgggcGgacttgggctctgaggcgat	18	8	1	2			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr8:139890069G>A	uc003yvd.3	-	2	1029	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	194	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGACGTGGGCGGACTTGGGCT	0.672										HNSCC(7;0.00092)			3	85					0	0	1	0	0	A	139890069	G	A	139890069	2	1	271	1	0	0	0	0	0	0	0	1	3681	1103	39	1		1	COL22A1	8	139890069	Silent	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		139890069	6473953	9	4671											
TDRD1	56165	broad.mit.edu	37	chr10	115978234	115978234	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatggacatgttaaagtAcattttgtggattatggaaa	9	4	0	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr10:115978234A>G	uc001lbg.1	+	17	2538	c.2385A>G	c.(2383-2385)gtA>gtG	p.V795V	TDRD1_uc001lbf.3_Intron|TDRD1_uc001lbh.1_Silent_p.V786V|TDRD1_uc001lbi.1_Silent_p.V786V|TDRD1_uc010qsc.2_Silent_p.V399V|TDRD1_uc001lbj.3_Silent_p.V504V	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	795	Tudor 3.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATGTTAAAGTACATTTTGTGG	0.383													6	199					0	0	1	0	0	G	115978234	A	G	115978234	2	3	271	1	0	0	0	0	0	0	0	1	15727	378	14	3		3	TDRD1	10	115978234	Silent	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		115978234	19556513	10	4672											
MUC2	4583	broad.mit.edu	37	chr11	1094843	1094843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatctgctgtgtcctgaaCgacacctactacgcaccagg	8	14	1	1	rs41417150	by1000genomes	TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr11:1094843C>T	uc001lsx.1	+	32	5946	c.5919C>T	c.(5917-5919)aaC>aaT	p.N1973N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	2029						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGTCCTGAACGACACCTACT	0.617													6	352					0	0	1	0	0	T	1094843	C	T	1094843	2	4	271	1	0	0	0	0	0	0	0	1	9975	535	19	1		1	MUC2	11	1094843	Silent	SNP	C	TCGA-EM-A3AP-01A-12D-A20C-08		1094843	133911673	11	4673											
CYB5R2	51700	broad.mit.edu	37	chr11	7687683	7687683	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcaatggatgtcgtaccAatgggaggcctgtccagggt	16	8	0	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr11:7687683A>C	uc001mfm.3	-	8	896	c.658_splice	c.e8+1	p.G220_splice	CYB5R2_uc001mfn.3_Splice_Site|CYB5R2_uc009yfk.3_Splice_Site_p.G220_splice	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	220					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGTCGTACCAATGGGAGGCC	0.493											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	77					0	0	1	0	0	C	7687683	A	C	7687683	5	2	271	1	0	0	0	0	0	0	1	0	4127	144	5	5	181	5	CYB5R2	11	7687683	Splice_Site	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	6592840	7687683	127318833	12	4674											
CTNND1	1500	broad.mit.edu	37	chr11	57573460	57573460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcccaatgttgccaacaAtactgggccacatgctgcca	8	14	0	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr11:57573460A>C	uc001nmc.4	+	9	2400	c.1829A>C	c.(1828-1830)aAt>aCt	p.N610T	CTNND1_uc001nlf.2_Missense_Mutation_p.N610T|CTNND1_uc021qjk.1_Missense_Mutation_p.N610T|CTNND1_uc001nlh.1_Missense_Mutation_p.N610T|CTNND1_uc001nlj.4_Missense_Mutation_p.N556T|CTNND1_uc001nlq.4_Missense_Mutation_p.N509T|CTNND1_uc001nlr.4_Missense_Mutation_p.N556T|CTNND1_uc001nln.4_Missense_Mutation_p.N610T|CTNND1_uc001nli.4_Missense_Mutation_p.N610T|CTNND1_uc001nlo.4_Missense_Mutation_p.N509T|CTNND1_uc001nlp.4_Missense_Mutation_p.N556T|CTNND1_uc001nlu.4_Missense_Mutation_p.N509T|CTNND1_uc001nlt.4_Missense_Mutation_p.N509T|CTNND1_uc001nlv.4_Missense_Mutation_p.N509T|CTNND1_uc001nls.4_Missense_Mutation_p.N509T|CTNND1_uc001nlw.4_Missense_Mutation_p.N509T|CTNND1_uc001nmf.4_Missense_Mutation_p.N610T|CTNND1_uc001nlx.4_Missense_Mutation_p.N287T|CTNND1_uc001nlz.4_Missense_Mutation_p.N287T|CTNND1_uc009ymn.3_Missense_Mutation_p.N287T|CTNND1_uc001nly.4_Missense_Mutation_p.N287T|CTNND1_uc001nmb.4_Missense_Mutation_p.N287T|CTNND1_uc001nma.4_Missense_Mutation_p.N287T|CTNND1_uc001nmd.4_Missense_Mutation_p.N556T|CTNND1_uc001nlk.4_Missense_Mutation_p.N556T|CTNND1_uc001nme.4_Missense_Mutation_p.N610T|CTNND1_uc001nll.4_Missense_Mutation_p.N556T|CTNND1_uc001nlm.4_Missense_Mutation_p.N610T|CTNND1_uc001nmi.4_Missense_Mutation_p.N509T|CTNND1_uc001nmg.4_Missense_Mutation_p.N556T|CTNND1_uc001nmh.4_Missense_Mutation_p.N610T	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	610					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GTTGCCAACAATACTGGGCCA	0.498													3	29					0	0	1	0	0	C	57573460	A	C	57573460	3	2	271	1	0	0	0	0	1	0	0	0	4019	101	4	5	1859	5	CTNND1	11	57573460	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	49885777	57573460	77433056	13	4675											
STUB1	10273	broad.mit.edu	37	chr16	732365	732365	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttcttgtcactgcagcGtgtgggtcattttgaccccg	11	13	3	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr16:732365G>A	uc002cit.3	+	7	1198	c.787_splice	c.e7-1	p.R263_splice	STUB1_uc002ciu.3_Splice_Site_p.R191_splice|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.	263	U-box.				DNA repair|cellular response to misfolded protein|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein autoubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|SMAD binding|TPR domain binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				TCACTGCAGCGTGTGGGTCAT	0.617													5	156					0	0	1	0	0	A	732365	G	A	732365	5	1	271	1	0	0	0	0	0	0	1	0	15334	1159	40	1	814	1	STUB1	16	732365	Splice_Site	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		732365	89622388	14	4676											
PDPR	55066	broad.mit.edu	37	chr16	70187304	70187304	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcctatagtacgccctgcAtgtatacaatgaagtgatga	8	9	0	3			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr16:70187304A>T	uc002eyf.1	+	17	3020	c.2063A>T	c.(2062-2064)cAt>cTt	p.H688L	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.H588L|PDPR_uc002eyg.1_Intron|PDPR_uc002eyh.2_Missense_Mutation_p.H33L|PDPR_uc010vls.1_Missense_Mutation_p.H33L	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	688					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TACGCCCTGCATGTATACAAT	0.448													10	47					0	0	1	0	0	T	70187304	A	T	70187304	3	4	271	1	0	0	0	0	1	0	0	0	11689	217	8	5	2125	5	PDPR	16	70187304	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	69454939	70187304	20167449	15	4677											
CDH13	1012	broad.mit.edu	37	chr16	83520201	83520201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctcccaacatgttctacAtcgatcctgagaaaggagac	7	12	2	2			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr16:83520201A>G	uc010vns.2	+	7	1306	c.1042A>G	c.(1042-1044)Atc>Gtc	p.I348V	CDH13_uc002fgx.3_Missense_Mutation_p.I301V|CDH13_uc010vnt.2_Missense_Mutation_p.I47V|CDH13_uc010vnu.2_Missense_Mutation_p.I262V	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	301	Cadherin 2.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATGTTCTACATCGATCCTGA	0.493													4	135					0	0	1	0	0	G	83520201	A	G	83520201	3	3	271	1	0	0	0	0	1	0	0	0	3099	217	8	3	927	3	CDH13	16	83520201	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	13332897	83520201	6834552	16	4678											
EBI3	10148	broad.mit.edu	37	chr19	4234672	4234672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttgtccgtcagtcaagcccGaccctccagaaggcgtgcgc	11	16	2	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:4234672G>T	uc002lzu.3	+	3	396	c.388G>T	c.(388-390)Gac>Tac	p.D130Y		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	130	Fibronectin type-III 2.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCAAGCCCGACCCTCCAGA	0.547													8	274					0	0	1	0	0	T	4234672	G	T	4234672	3	4	271	1	0	0	0	0	1	0	0	0	4883	1058	37	4	402	4	EBI3	19	4234672	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		4234672	54894311	17	4679											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													3	98					0	0	1	0	0	G	9090831	A	G	9090831	2	3	271	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	4856159	9090831	50038152	18	4680											
RTN2	6253	broad.mit.edu	37	chr19	45996575	45996575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtggggacaattccaaAattggaaccgtcttgtaaac	11	7	1	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:45996575A>C	uc002pcb.3	-	4	1106	c.876T>G	c.(874-876)atT>atG	p.I292M	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	292						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACAATTCCAAAATTGGAACCG	0.502													3	155					0	0	1	0	0	C	45996575	A	C	45996575	3	2	271	1	0	0	0	0	1	0	0	0	13726	10	1	5	789	5	RTN2	19	45996575	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	36905744	45996575	13132408	19	4681											
COL20A1	57642	broad.mit.edu	37	chr20	61956821	61956821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggtcaaaggagagaaggGagaccatgggcttccaggct	17	7	1	2			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr20:61956821G>A	uc011aau.2	+	27	3423	c.3323G>A	c.(3322-3324)gGa>gAa	p.G1108E	COL20A1_uc011aav.2_Missense_Mutation_p.G929E	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1108	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGAGAGAAGGGAGACCATGGG	0.667													5	122					0	0	1	0	0	A	61956821	G	A	61956821	3	1	271	1	0	0	0	0	1	0	0	0	3679	1174	41	2	3429	2	COL20A1	20	61956821	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		61956821	1068699	20	4682											
DGCR8	54487	broad.mit.edu	37	chr22	20079439	20079439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggtctgcatcctgcacGagtacatgcagcgtgtcctc	11	14	1	0			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr22:20079439G>A	uc002zri.3	+	6	1981	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	DGCR8_uc010grz.3_Missense_Mutation_p.E518K|DGCR8_uc002zrj.3_Missense_Mutation_p.E161K	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	518	DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATCCTGCACGAGTACATGCA	0.463													32	31					0	0	1	0	0	A	20079439	G	A	20079439	3	1	271	1	0	0	0	0	1	0	0	0	4464	1059	37	1	1574	1	DGCR8	22	20079439	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		20079439	31225127	21	4683											
STS	412	broad.mit.edu	37	chrX	7177465	7177465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacatcacggcttcaattAtttctatgggatctctttga	6	8	4	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:7177465A>G	uc004cry.4	+	4	718	c.473A>G	c.(472-474)tAt>tGt	p.Y158C		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	158					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GGCTTCAATTATTTCTATGGG	0.522									Ichthyosis				3	138					0	0	1	0	0	G	7177465	A	G	7177465	3	3	271	1	0	0	0	0	1	0	0	0	15331	449	16	3	491	3	STS	23	7177465	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		7177465	148093095	22	4684											
ZIC3	7547	broad.mit.edu	37	chrX	136649433	136649433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtggggagctgttcggcCgtgctgacccataccgccca	14	14	0	1			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:136649433C>T	uc004fak.3	+	0	1088	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	195					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTGTTCGGCCGTGCTGACCC	0.672													4	112					0	0	1	0	0	T	136649433	C	T	136649433	3	4	271	1	0	0	0	0	1	0	0	0	17677	652	23	1	585	1	ZIC3	23	136649433	Missense_Mutation	SNP	C	TCGA-EM-A3AP-01A-12D-A20C-08	129471968	136649433	18621127	23	4685											
DTL	51514	broad.mit.edu	37	chr1	212220678	212220678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagccaaattttgggacGtaaaagctggtgagctgatt	11	6	0	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr1:212220678G>A	uc009xdc.3	+	4	693	c.379G>A	c.(379-381)Gta>Ata	p.V127I	DTL_uc010ptb.2_Missense_Mutation_p.V85I|DTL_uc001hiz.4_5'UTR	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	127					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ATTTTGGGACGTAAAAGCTGG	0.388													5	192					0	0	1	0	0	A	212220678	G	A	212220678	3	1	272	1	0	0	0	0	1	0	0	0	4787	1145	40	1	397	1	DTL	1	212220678	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		212220678	37029943	1	4686											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917833	10917833	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accgacagagagagagagagTgagggcgagggtgaggtaag	20	4	0	5			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr2:10917833T>A	uc002ras.3	+	10	1057	c.948T>A	c.(946-948)agT>agA	p.S316R	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	316					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.S316fs*14(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGAGAGAGTGAGGGCGAGG	0.602													4	140					0	0	1	0	0	A	10917833	T	A	10917833	3	1	272	1	0	0	0	0	1	0	0	0	1181	1693	59	5	986	5	ATP6V1C2	2	10917833	Missense_Mutation	SNP	T	TCGA-EM-A3AQ-01A-11D-A20C-08		10917833	232281540	2	4687											
STT3B	201595	broad.mit.edu	37	chr3	31641886	31641886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttatgtatttatcatcaAtcttattccactgcatgtat	5	7	3	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr3:31641886A>G	uc011axe.2	+	4	812	c.812A>G	c.(811-813)aAt>aGt	p.N271S	STT3B_uc003cer.1_Missense_Mutation_p.N271S|STT3B_uc010hft.1_Missense_Mutation_p.N271S	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	271					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTATCATCAATCTTATTCCA	0.299													5	102					0	0	1	0	0	G	31641886	A	G	31641886	3	3	272	1	0	0	0	0	1	0	0	0	15333	101	4	3	830	3	STT3B	3	31641886	Missense_Mutation	SNP	A	TCGA-EM-A3AQ-01A-11D-A20C-08		31641886	166380544	3	4688											
SEL1L3	23231	broad.mit.edu	37	chr4	25785870	25785870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagctgctttcttcaTcagctctaaggcaagccgtc	9	12	4	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr4:25785870T>C	uc003gru.4	-	13	2412	c.2260A>G	c.(2260-2262)Atg>Gtg	p.M754V	SEL1L3_uc003grv.3_Missense_Mutation_p.M161V	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	754						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCTTTCTTCATCAGCTCTAAG	0.438													17	192					0	0	1	0	0	C	25785870	T	C	25785870	3	2	272	1	0	0	0	0	1	0	0	0	14012	1435	50	3	1182	3	SEL1L3	4	25785870	Missense_Mutation	SNP	T	TCGA-EM-A3AQ-01A-11D-A20C-08		25785870	165368406	4	4689											
RNF39	80352	broad.mit.edu	37	chr6	30043521	30043521	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccctctcctgggattgcctCtctcttcaaccagagtctca	6	17	5	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr6:30043521C>T	uc003npe.3	-	0	108	c.46G>A	c.(46-48)Gag>Aag	p.E16K	RNF39_uc003npd.3_Missense_Mutation_p.E16K	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.	16						cytoplasm	zinc ion binding										GGGATTGCCTCTCTCTTCAAC	0.587													51	88					0	0	1	0	0	T	30043521	C	T	30043521	3	4	272	1	0	0	0	0	1	0	0	0	13491	922	32	2	1232	2	RNF39	6	30043521	Missense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		30043521	141071546	5	4690											
RPL10A	4736	broad.mit.edu	37	chr6	35436757	35436757	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggagttgcagatcagcttGaagaactatgatccccagaa	11	8	1	5			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr6:35436757G>T	uc003okp.1	+	2	148	c.114G>T	c.(112-114)ttG>ttT	p.L38F	RPL10A_uc003oks.1_5'UTR	NM_007104	NP_009035	P62906	RL10A_HUMAN	Homo sapiens ribosomal protein L10a (RPL10A), mRNA.	38					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						AGATCAGCTTGAAGAACTATG	0.657													30	43					0	0	1	0	0	T	35436757	G	T	35436757	3	4	272	1	0	0	0	0	1	0	0	0	13555	1281	45	4	124	4	RPL10A	6	35436757	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	5393236	35436757	135678310	6	4691											
KCND2	3751	broad.mit.edu	37	chr7	119915766	119915766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccagcatccctgcagcCttctggtataccatcgtcac	6	16	3	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr7:119915766C>T	uc003vjj.1	+	0	2045	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	360					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCCCTGCAGCCTTCTGGTATA	0.512													13	135					0	0	1	0	0	T	119915766	C	T	119915766	2	4	272	1	0	0	0	0	0	0	0	1	8019	668	24	2		2	KCND2	7	119915766	Silent	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		119915766	39222897	7	4692											
ATAD2	29028	broad.mit.edu	37	chr8	124361673	124361673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccataagagctagcagggtgGaaacaatagaactaaatttt	9	6	0	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr8:124361673G>A	uc003yqh.4	-	13	1766	c.1658C>T	c.(1657-1659)tCc>tTc	p.S553F	ATAD2_uc011lii.2_Missense_Mutation_p.S344F|ATAD2_uc003yqi.4_Intron|ATAD2_uc003yqj.3_Missense_Mutation_p.S553F|Mir_548_uc022ban.1_5'Flank	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGCAGGGTGGAAACAATAGA	0.358													5	122					0	0	1	0	0	A	124361673	G	A	124361673	3	1	272	1	0	0	0	0	1	0	0	0	1071	1174	41	2	2574	2	ATAD2	8	124361673	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		124361673	22002349	8	4693											
GFI1B	8328	broad.mit.edu	37	chr9	135865217	135865217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcatccactcagacacgcGgccctacccctgccagttct	7	19	3	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:135865217G>T	uc004ccg.3	+	5	1092	c.737G>T	c.(736-738)cGg>cTg	p.R246L	GFI1B_uc010mzy.3_Missense_Mutation_p.R200L	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	246	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCAGACACGCGGCCCTACCCC	0.612													3	73					0	0	1	0	0	T	135865217	G	T	135865217	3	4	272	1	0	0	0	0	1	0	0	0	6340	1116	39	4	755	4	GFI1B	9	135865217	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		135865217	5348214	9	4694											
UBAC1	10422	broad.mit.edu	37	chr9	138830109	138830109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcccagctgcaccaccGggttatccaggatggcctga	12	14	1	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:138830109G>A	uc004cgt.3	-	8	1279	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L		NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	Homo sapiens UBA domain containing 1 (UBAC1), mRNA.	354	STI1.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGCACCACCGGGTTATCCAG	0.612													4	127					0	0	1	0	0	A	138830109	G	A	138830109	3	1	272	1	0	0	0	0	1	0	0	0	16831	1116	39	1	164	1	UBAC1	9	138830109	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	2964892	138830109	2383322	10	4695											
GTPBP4	23560	broad.mit.edu	37	chr10	1060250	1060250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgacatggacgataaagacGatgtgagtgtgggggcggtt	17	4	0	3			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr10:1060250G>A	uc001ift.3	+	14	1677	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	GTPBP4_uc010qad.2_Missense_Mutation_p.D420N|GTPBP4_uc010qae.2_Missense_Mutation_p.D489N	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	536					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.D536N(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CGATAAAGACGATGTGAGTGT	0.443													51	73					0	0	1	0	0	A	1060250	G	A	1060250	3	1	272	1	0	0	0	0	1	0	0	0	6882	1058	37	1	1664	1	GTPBP4	10	1060250	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		1060250	134474497	11	4696											
ZNF408	79797	broad.mit.edu	37	chr11	46727180	46727180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccctctgtgccttctgctGcttctgagcccactgtggtg	10	15	3	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr11:46727180G>T	uc001nde.2	+	4	2211	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S	ZNF408_uc010rgw.2_Missense_Mutation_p.A636S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTTCTGCTGCTTCTGAGCC	0.637													4	96					0	0	1	0	0	T	46727180	G	T	46727180	3	4	272	1	0	0	0	0	1	0	0	0	17885	1319	46	4	1980	4	ZNF408	11	46727180	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		46727180	88279336	12	4697											
RNF214	257160	broad.mit.edu	37	chr11	117152830	117152830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgggttcccttgtcaGcccccacggtccacacatgc	10	16	1	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr11:117152830G>A	uc001pqt.3	+	10	1601	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	RNF214_uc001pqu.3_Missense_Mutation_p.S519N|RNF214_uc010rxf.2_Missense_Mutation_p.S364N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	519	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCCCTTGTCAGCCCCCACGGT	0.637													6	343					0	0	1	0	0	A	117152830	G	A	117152830	3	1	272	1	0	0	0	0	1	0	0	0	13478	971	34	2	1594	2	RNF214	11	117152830	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	70425650	117152830	17853686	13	4698											
COQ10A	93058	broad.mit.edu	37	chr12	56664037	56664037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgagcgtcgggcagccaCcaagtttggtccagaaacag	12	11	0	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr12:56664037C>T	uc001sko.4	+	4	941	c.680C>T	c.(679-681)aCc>aTc	p.T227I	COQ10A_uc001skp.4_Missense_Mutation_p.T195I|COQ10A_uc001skq.4_Missense_Mutation_p.T210I	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN	Homo sapiens coenzyme Q10 homolog A (S. cerevisiae) (COQ10A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						CGGGCAGCCACCAAGTTTGGT	0.527													7	179					0	0	1	0	0	T	56664037	C	T	56664037	3	4	272	1	0	0	0	0	1	0	0	0	3743	507	18	2	740	2	COQ10A	12	56664037	Missense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		56664037	77187858	14	4699											
GCSH	2653	broad.mit.edu	37	chr16	81129777	81129777	+	Frame_Shift_Del	DEL	C	C	-													tgcgcagcgtacggacggcgCccacccccagctgccagggc							TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:81129777delC	uc002fgd.3	-	0	204	c.107delG	c.(106-108)ggcfs	p.G36fs	GCSH_uc002fge.3_Non-coding_Transcript	NM_004483	NP_004474	P23434	GCSH_HUMAN	Homo sapiens glycine cleavage system protein H (aminomethyl carrier) (GCSH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	36						glycine cleavage complex|mitochondrion	aminomethyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	ACGGACGGCGCCCACCCCCAG	0.781													2	4	---	---	---	---						-	81129777	C	-	81129777	7	5	272	1	0	1	0	1	0	0	0	0	6305	739	26	0	434	0	GCSH	16	81129777	Frame_Shift_Del	DEL	C	TCGA-EM-A3AQ-01A-11D-A20C-08		81129777	9224976	15	4700											
FOXC2	2303	broad.mit.edu	37	chr16	86601995	86601995	+	Frame_Shift_Del	DEL	C	C	-													cggcgcacatgtgcgtcccgCccgccctggacgaggccctc							TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:86601995delC	uc002fjq.3	+	0	1139	c.1054delC	c.(1054-1056)cccfs	p.P352fs		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	352					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GTGCGTCCCGCCCGCCCTGGA	0.771									Late-onset Hereditary Lymphedema				2	4	---	---	---	---						-	86601995	C	-	86601995	7	5	272	1	0	1	0	1	0	0	0	0	5995	739	26	0	1056	0	FOXC2	16	86601995	Frame_Shift_Del	DEL	C	TCGA-EM-A3AQ-01A-11D-A20C-08	5472218	86601995	3752758	16	4701											
SMCR7	125170	broad.mit.edu	37	chr17	18167971	18167971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggccagcctgccctgcCacttcaaccccagcgtgaac	9	18	1	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr17:18167971C>A	uc010vxq.2	+	3	1317	c.1291C>A	c.(1291-1293)Cac>Aac	p.H431N	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.H420N	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	420						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CCTGCCCTGCCACTTCAACCC	0.622													4	64					0	0	1	0	0	A	18167971	C	A	18167971	3	1	272	1	0	0	0	0	1	0	0	0	14790	594	21	4	1305	4	SMCR7	17	18167971	Missense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		18167971	63027239	17	4702											
GATA6	2627	broad.mit.edu	37	chr18	19780673	19780673	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcaccaatcccgagaacagcGagctcaagtattcgggtcaa	10	12	2	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr18:19780673G>C	uc002ktt.1	+	6	1940	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	GATA6_uc002ktu.1_Missense_Mutation_p.E559Q	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	559					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CGAGAACAGCGAGCTCAAGTA	0.627													7	136					0	0	1	0	0	C	19780673	G	C	19780673	3	2	272	1	0	0	0	0	1	0	0	0	6258	1059	37	4	1697	4	GATA6	18	19780673	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		19780673	58296575	18	4703											
ANKRD24	170961	broad.mit.edu	37	chr19	4219657	4219657	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagctggccacagcagagCagcagctacgggggctacgg	15	13	0	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr19:4219657C>T	uc010dtt.1	+	18	3349	c.3073C>T	c.(3073-3075)Cag>Tag	p.Q1025*		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1025										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CACAGCAGAGCAGCAGCTACG	0.657													49	81					0	0	1	0	0	T	4219657	C	T	4219657	4	4	272	1	0	0	0	0	0	1	0	0	653	711	25	2	3143	2	ANKRD24	19	4219657	Nonsense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		4219657	54909326	19	4704											
PARD6B	84612	broad.mit.edu	37	chr20	49366676	49366676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggaataatgttgtgaGgaacagtcggacttctggca	13	7	1	2			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr20:49366676G>A	uc002xvo.3	+	2	1013	c.770G>A	c.(769-771)aGg>aAg	p.R257K		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	257					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AATGTTGTGAGGAACAGTCGG	0.473													4	209					0	0	1	0	0	A	49366676	G	A	49366676	3	1	272	1	0	0	0	0	1	0	0	0	11446	1000	35	2	780	2	PARD6B	20	49366676	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		49366676	13658844	20	4705											
TUBA8	51807	broad.mit.edu	37	chr22	18604302	18604302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagattggcaatgcctgCtgggagctcttctgcctgga	13	10	3	1			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr22:18604302C>T	uc002znw.1	+	0	429	c.132C>T	c.(130-132)tgC>tgT	p.C44C	TUBA8_uc002znv.2_Silent_p.C20C|TUBA8_uc021wkt.1_5'UTR	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	20					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GCAATGCCTGCTGGGAGCTCT	0.562													52	64					0	0	1	0	0	T	18604302	C	T	18604302	2	4	272	1	0	0	0	0	0	0	0	1	16747	805	28	2		2	TUBA8	22	18604302	Silent	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		18604302	32700264	21	4706											
BEX1	55859	broad.mit.edu	37	chrX	102317829	102317829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaccatcaggattcagGgcataaggcaaaactcatca	10	9	4	0			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chrX:102317829G>A	uc004ejt.1	-	2	614	c.374C>T	c.(373-375)cCc>cTc	p.P125L	BEX1_uc022cbj.1_Missense_Mutation_p.P125L	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.	125					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						CAGGATTCAGGGCATAAGGCA	0.463													5	110					0	0	1	0	0	A	102317829	G	A	102317829	3	1	272	1	0	0	0	0	1	0	0	0	1410	1232	43	2	7	2	BEX1	23	102317829	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		102317829	52952731	22	4707											
ABCG8	64241	broad.mit.edu	37	chr2	44099167	44099167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggaattggccaccagGgagaaggctcagtcactcgc	14	11	2	1			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr2:44099167G>A	uc002rtq.3	+	6	1107	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	ABCG8_uc010yoa.2_Silent_p.R339R	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	339					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGCCACCAGGGAGAAGGCTC	0.547													11	93					0	0	1	0	0	A	44099167	G	A	44099167	2	1	273	1	0	0	0	0	0	0	0	1	72	1223	43	2		2	ABCG8	2	44099167	Silent	SNP	G	TCGA-EM-A3AR-01A-12D-A20C-08		44099167	199100206	1	4708											
KCNIP3	30818	broad.mit.edu	37	chr2	96047380	96047380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccatcctgctgcggggcAcagtccacgagaagctcaag	11	14	2	1			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr2:96047380A>G	uc002sup.3	+	5	599	c.484A>G	c.(484-486)Aca>Gca	p.T162A	KCNIP3_uc002suq.3_Missense_Mutation_p.T136A	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	162	EF-hand 3.				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GCTGCGGGGCACAGTCCACGA	0.542													9	81					0	0	1	0	0	G	96047380	A	G	96047380	3	3	273	1	0	0	0	0	1	0	0	0	8041	159	6	3	613	3	KCNIP3	2	96047380	Missense_Mutation	SNP	A	TCGA-EM-A3AR-01A-12D-A20C-08	51948213	96047380	147151993	2	4709											
TTN	7273	broad.mit.edu	37	chr2	179412318	179412318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgattcacgcttttcaacTatgtaattagtaatttcagt	5	9	3	0			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr2:179412318T>C	uc021vsy.1	-	287	86556	c.86331A>G	c.(86329-86331)atA>atG	p.I28777M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I22472M|TTN_uc021vta.1_Missense_Mutation_p.I22405M|TTN_uc021vtb.1_Missense_Mutation_p.I22280M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29704							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTTCAACTATGTAATTAG	0.443													3	87					0	0	1	0	0	C	179412318	T	C	179412318	3	2	273	1	0	0	0	0	1	0	0	0	16732	1512	53	3	14040	3	TTN	2	179412318	Missense_Mutation	SNP	T	TCGA-EM-A3AR-01A-12D-A20C-08	83364938	179412318	63787055	3	4710											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797683	44797683	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccagccactgccccgacaGggggtcaagagaacctactc	11	16	1	1			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr7:44797683G>C	uc003tlr.3	+	5	912	c.789G>C	c.(787-789)caG>caC	p.Q263H	ZMIZ2_uc003tlq.3_Missense_Mutation_p.Q231H|ZMIZ2_uc003tls.3_Missense_Mutation_p.Q263H|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	263	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCCCGACAGGGGGTCAAGA	0.612													18	91					0	0	1	0	0	C	44797683	G	C	44797683	3	2	273	1	0	0	0	0	1	0	0	0	17694	991	35	4	807	4	ZMIZ2	7	44797683	Missense_Mutation	SNP	G	TCGA-EM-A3AR-01A-12D-A20C-08		44797683	114340980	4	4711											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	64					0	0	1	0	0	T	140453136	A	T	140453136	3	4	273	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3AR-01A-12D-A20C-08	95655453	140453136	18685527	5	4712											
COL27A1	85301	broad.mit.edu	37	chr9	116930153	116930153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgctgagcctctgctcCcaccgggtgaaccatgcctt	11	15	1	2			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr9:116930153C>T	uc011lxl.2	+	2	318	c.318C>T	c.(316-318)tcC>tcT	p.S106S	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_5'UTR	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	106	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCTCTGCTCCCACCGGGTGA	0.662													24	129					0	0	1	0	0	T	116930153	C	T	116930153	2	4	273	1	0	0	0	0	0	0	0	1	3685	610	22	2		2	COL27A1	9	116930153	Silent	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		116930153	24283278	6	4713											
LRP1	4035	broad.mit.edu	37	chr12	57605751	57605751	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctgttgctgctgctgCtggttctggtggccggagtg	16	10	2	0			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr12:57605751C>G	uc001snd.3	+	86	13766	c.13300C>G	c.(13300-13302)Ctg>Gtg	p.L4434V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4434					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTGCTGCTGCTGGTTCTGGT	0.547													4	225					0	0	1	0	0	G	57605751	C	G	57605751	3	3	273	1	0	0	0	0	1	0	0	0	8951	796	28	4	13646	4	LRP1	12	57605751	Missense_Mutation	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		57605751	76246144	7	4714											
MYLK3	91807	broad.mit.edu	37	chr16	46764581	46764581	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacgctcactacccggtgttCaaaaggagctggtggggccg	15	11	2	0			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr16:46764581C>A	uc002eei.4	-	4	1608	c.1492G>T	c.(1492-1494)Gaa>Taa	p.E498*	MYLK3_uc010vge.2_Nonsense_Mutation_p.E157*|MYLK3_uc002eej.1_Nonsense_Mutation_p.E157*	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	498					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCCGGTGTTCAAAAGGAGCT	0.597													5	178					0	0	1	0	0	A	46764581	C	A	46764581	4	1	273	1	0	0	0	0	0	1	0	0	10058	835	29	4	1003	4	MYLK3	16	46764581	Nonsense_Mutation	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		46764581	43590172	8	4715											
PDZD11	51248	broad.mit.edu	37	chrX	69508002	69508002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctagctgggaggcctttcCtcctcggatgttaaatccca	10	13	0	0			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chrX:69508002C>T	uc004dye.1	-	3	534	c.289G>A	c.(289-291)Gga>Aga	p.G97R	KIF4A_uc004dyg.3_5'Flank|KIF4A_uc010nkw.3_5'Flank|PDZD11_uc004dyd.1_Missense_Mutation_p.G65R|KIF4A_uc004dyf.2_5'Flank	NM_016484	NP_057568	Q5EBL8	PDZ11_HUMAN	Homo sapiens PDZ domain containing 11 (PDZD11), mRNA.	65	PDZ.					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GAGGCCTTTCCTCCTCGGATG	0.438													3	21					0	0	1	0	0	T	69508002	C	T	69508002	3	4	273	1	0	0	0	0	1	0	0	0	11700	690	24	2	245	2	PDZD11	23	69508002	Missense_Mutation	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		69508002	85762558	9	4716											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	13					0	0	1	0	0	T	140453136	A	T	140453136	3	4	274	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FJ-01A-11D-A21A-08		140453136	18685527	1	4717											
CNOT2	4848	broad.mit.edu	37	chr12	70723333	70723333	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaatgtcacttcacacGcctccatctccaagcaggta	5	16	3	0			TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chr12:70723333G>T	uc001svv.3	+	4	951	c.369G>T	c.(367-369)acG>acT	p.T123T	CNOT2_uc009zro.3_Silent_p.T123T|CNOT2_uc009zrp.3_Silent_p.T103T|CNOT2_uc009zrq.3_Silent_p.T123T	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	123					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CACTTCACACGCCTCCATCTC	0.398													3	47					0	0	1	0	0	T	70723333	G	T	70723333	2	4	274	1	0	0	0	0	0	0	0	1	3619	1074	38	4		4	CNOT2	12	70723333	Silent	SNP	G	TCGA-EM-A3FJ-01A-11D-A21A-08		70723333	63128562	2	4718											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				11	24					0	0	1	0	0	T	140453136	A	T	140453136	3	4	275	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FK-01A-11D-A21A-08		140453136	18685527	1	4719											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713116	138713116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaagggtctcaagtgcgGgagcgtctctacactgggcg	17	9	2	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr9:138713116G>A	uc004cgr.4	-	10	3391	c.3391C>T	c.(3391-3393)Ccg>Tcg	p.P1131S	CAMSAP1_uc004cgq.4_Missense_Mutation_p.P1021S|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P853S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1131						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTCAAGTGCGGGAGCGTCTCT	0.647													3	46					0	0	1	0	0	A	138713116	G	A	138713116	3	1	275	1	0	0	0	0	1	0	0	0	2611	1232	43	2	1445	2	CAMSAP1	9	138713116	Missense_Mutation	SNP	G	TCGA-EM-A3FK-01A-11D-A21A-08		138713116	2500315	2	4720											
LRP1	4035	broad.mit.edu	37	chr12	57563020	57563020	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggcgttgcatccccgagcaCtggacctgcgatggggacaa	15	12	0	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr12:57563020C>G	uc001snd.3	+	19	3559	c.3093C>G	c.(3091-3093)caC>caG	p.H1031Q	LRP1_uc009zpi.1_Non-coding_Transcript	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1031	LDL-receptor class A 7.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCCCGAGCACTGGACCTGCG	0.612													3	46					0	0	1	0	0	G	57563020	C	G	57563020	3	3	275	1	0	0	0	0	1	0	0	0	8951	564	20	4	3171	4	LRP1	12	57563020	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08		57563020	76288875	3	4721											
PITPNA	5306	broad.mit.edu	37	chr17	1456343	1456343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtactggcctttctcaccgTccttctcgtagggctcattc	8	14	3	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr17:1456343T>C	uc021tng.1	-	2	408	c.152A>G	c.(151-153)gAc>gGc	p.D51G	PITPNA_uc021tnf.1_5'UTR|PITPNA_uc010cjt.3_5'UTR|PITPNA_uc010vqn.1_Non-coding_Transcript	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	51					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTTCTCACCGTCCTTCTCGTA	0.552													56	89					0	0	1	0	0	C	1456343	T	C	1456343	3	2	275	1	0	0	0	0	1	0	0	0	11947	1667	58	3	696	3	PITPNA	17	1456343	Missense_Mutation	SNP	T	TCGA-EM-A3FK-01A-11D-A21A-08		1456343	79738867	4	4722											
TRPV2	51393	broad.mit.edu	37	chr17	16338272	16338272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaggacccgtcaggggCaggtgtccctcgtgagtagc	17	10	1	2			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr17:16338272C>A	uc002gpy.3	+	13	2582	c.2183C>A	c.(2182-2184)gCa>gAa	p.A728E	TRPV2_uc002gpz.3_Missense_Mutation_p.A298E	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	728					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCGTCAGGGGCAGGTGTCCCT	0.627													12	27					0	0	1	0	0	A	16338272	C	A	16338272	3	1	275	1	0	0	0	0	1	0	0	0	16593	710	25	4	2233	4	TRPV2	17	16338272	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08	14881929	16338272	64856938	5	4723											
RHBDD3	25807	broad.mit.edu	37	chr22	29656429	29656429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgctcatccaaggccGcccacatcggagtccctggg	11	16	2	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr22:29656429G>A	uc003aeq.1	-	5	1241	c.869C>T	c.(868-870)gCg>gTg	p.A290V		NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	290						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						ATCCAAGGCCGCCCACATCGG	0.672													2	2					0	0	1	0	0	A	29656429	G	A	29656429	3	1	275	1	0	0	0	0	1	0	0	0	13318	1087	38	1	299	1	RHBDD3	22	29656429	Missense_Mutation	SNP	G	TCGA-EM-A3FK-01A-11D-A21A-08		29656429	21648137	6	4724											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044090	51044090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttccgtggcttcaacatgCgcacgggggagcgcggtgtg	18	10	1	0			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr22:51044090C>T	uc003bmx.3	+	7	2056	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.R620C|MAPK8IP2_uc011asc.2_Missense_Mutation_p.R2C	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	648	SH3.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCAACATGCGCACGGGGGA	0.652													4	21					0	0	1	0	0	T	51044090	C	T	51044090	3	4	275	1	0	0	0	0	1	0	0	0	9285	768	27	1	2057	1	MAPK8IP2	22	51044090	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08	21387661	51044090	260476	7	4725											
SAGE1	55511	broad.mit.edu	37	chrX	134995047	134995047	+	Frame_Shift_Del	DEL	A	A	-													agaaaagttaagcacatgagAaaaagataattgtgttagtg							TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chrX:134995047delA	uc004ezh.3	+	19	2873	c.2706delA	c.(2704-2706)agafs	p.R902fs	SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Frame_Shift_Del_p.R526fs	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	902										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGCACATGAGAAAAAGATAAT	0.368													2	4	---	---	---	---						-	134995047	A	-	134995047	7	5	275	1	0	1	0	1	0	0	0	0	13809	243	9	0	2780	0	SAGE1	23	134995047	Frame_Shift_Del	DEL	A	TCGA-EM-A3FK-01A-11D-A21A-08		134995047	20275513	8	4726											
BGN	633	broad.mit.edu	37	chrX	152770767	152770767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagaacaacgacatctccGagctccgcaaggatgacttc	9	13	1	2	rs150272427	byFrequency	TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chrX:152770767G>A	uc004fhr.2	+	2	546	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	104						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACATCTCCGAGCTCCGCAA	0.617													26	44					0	0	1	0	0	A	152770767	G	A	152770767	3	1	275	1	0	0	0	0	1	0	0	0	1418	1059	37	1	316	1	BGN	23	152770767	Missense_Mutation	SNP	G	TCGA-EM-A3FK-01A-11D-A21A-08	17775720	152770767	2499793	9	4727											
WNT4	54361	broad.mit.edu	37	chr1	22447975	22447975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgtcctgtcacagccGcacttctccagctccccact	6	19	2	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:22447975G>A	uc001bfs.4	-	2	512	c.408C>T	c.(406-408)tgC>tgT	p.C136C	WNT4_uc010odt.2_Silent_p.C73C	NM_030761	NP_110388	P56705	WNT4_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA.	136					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation	Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGTCACAGCCGCACTTCTCCA	0.672													4	121					0	0	1	0	0	A	22447975	G	A	22447975	2	1	276	1	0	0	0	0	0	0	0	1	17387	1079	38	1		1	WNT4	1	22447975	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		22447975	226802646	1	4728											
SLC44A3	126969	broad.mit.edu	37	chr1	95290099	95290099	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagccgcgggaagactcctCtttggctatgacagctttgg	14	10	1	2			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:95290099C>T	uc001dqv.4	+	2	293	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SLC44A3_uc001dqx.4_Silent_p.L62L|SLC44A3_uc010otq.2_Silent_p.L26L|SLC44A3_uc010otr.2_Silent_p.L26L|SLC44A3_uc001dqw.4_Silent_p.L14L|SLC44A3_uc010ots.2_Silent_p.L14L|SLC44A3_uc009wds.3_5'UTR|SLC44A3_uc010ott.2_Silent_p.L14L|SLC44A3_uc010otu.1_5'Flank	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	62						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAAGACTCCTCTTTGGCTATG	0.552													6	120					0	0	1	0	0	T	95290099	C	T	95290099	2	4	276	1	0	0	0	0	0	0	0	1	14637	900	32	2		2	SLC44A3	1	95290099	Silent	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	72842124	95290099	153960522	2	4729											
SLC5A6	8884	broad.mit.edu	37	chr2	27426733	27426733	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatcacaaagtacaggacGaactgcaagcagagcggagg	12	10	1	1	rs59827696		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr2:27426733G>A	uc002rjd.3	-	9	1503	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SLC5A6_uc010eyv.1_Silent_p.F336F	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	336					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGTACAGGACGAACTGCAAGC	0.592													3	27					0	0	1	0	0	A	27426733	G	A	27426733	2	1	276	1	0	0	0	0	0	0	0	1	14669	1049	37	1		1	SLC5A6	2	27426733	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		27426733	215772640	3	4730											
KIAA1211	57482	broad.mit.edu	37	chr4	57189657	57189657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaagcaaaaggggtttcGggagcagcaggcgacgcggg	18	8	0	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:57189657G>A	uc003hbk.2	+	8	3693	c.3302G>A	c.(3301-3303)cGg>cAg	p.R1101Q	KIAA1211_uc010iha.2_Missense_Mutation_p.R1094Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1101										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGGGTTTCGGGAGCAGCAG	0.522													3	27					0	0	1	0	0	A	57189657	G	A	57189657	3	1	276	1	0	0	0	0	1	0	0	0	8215	1116	39	1	3324	1	KIAA1211	4	57189657	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		57189657	133964619	4	4731											
SHROOM3	57619	broad.mit.edu	37	chr4	77476902	77476902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatcctacaagaccctcagGctggtagtgcgcaggtaggt	14	10	1	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:77476902G>T	uc011cbx.2	+	1	1262	c.309G>T	c.(307-309)agG>agT	p.R103S		NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	103	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGACCCTCAGGCTGGTAGTGC	0.592													3	52					0	0	1	0	0	T	77476902	G	T	77476902	3	4	276	1	0	0	0	0	1	0	0	0	14295	1194	42	4	315	4	SHROOM3	4	77476902	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08	20287245	77476902	113677374	5	4732											
LRP2BP	55805	broad.mit.edu	37	chr4	186291863	186291863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctgaagacaccttgcGtggtagaaggatgccattgc	12	10	0	3			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:186291863G>A	uc003ixj.2	-	6	1721	c.909C>T	c.(907-909)caC>caT	p.H303H	LRP2BP_uc003ixk.2_Silent_p.H277H	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	303						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GACACCTTGCGTGGTAGAAGG	0.478													5	98					0	0	1	0	0	A	186291863	G	A	186291863	2	1	276	1	0	0	0	0	0	0	0	1	8957	1136	40	1		1	LRP2BP	4	186291863	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08	108814961	186291863	4862413	6	4733											
LECT2	3950	broad.mit.edu	37	chr5	135288629	135288629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggaagacttgccagcaCatatattagcccatggccct	8	12	0	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr5:135288629C>T	uc003lbe.1	-	1	275	c.74G>A	c.(73-75)tGt>tAt	p.C25Y		NM_002302	NP_002293	O14960	LECT2_HUMAN	Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA.	25					chemotaxis|skeletal system development	cytoplasm|extracellular space		p.C25Y(2)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517													8	181					0	0	1	0	0	T	135288629	C	T	135288629	3	4	276	1	0	0	0	0	1	0	0	0	8713	478	17	2	393	2	LECT2	5	135288629	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		135288629	45626631	7	4734											
TCP1	6950	broad.mit.edu	37	chr6	160205735	160205735	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagttgagtgcatagccactGatgagcatactctccatttg	9	10	1	3			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr6:160205735G>A	uc003qsr.3	-	5	868	c.633C>T	c.(631-633)atC>atT	p.I211I	TCP1_uc003qss.3_Silent_p.I56I	NM_030752	NP_001008897	P17987	TCPA_HUMAN	Homo sapiens t-complex 1 (TCP1), transcript variant 1, mRNA.	211					'de novo' posttranslational protein folding|tubulin complex assembly	Golgi apparatus|cell junction	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CATAGCCACTGATGAGCATAC	0.413													36	86					0	0	1	0	0	A	160205735	G	A	160205735	2	1	276	1	0	0	0	0	0	0	0	1	15706	1280	45	2		2	TCP1	6	160205735	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		160205735	10909332	8	4735											
MKLN1	4289	broad.mit.edu	37	chr7	131012679	131012679	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggcggctggcggagctgtCgctgcggcgcccgagtgccg	19	13	0	0	rs142689824	by1000genomes	TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr7:131012679C>T	uc011kpm.2	+	0	85	c.21C>T	c.(19-21)gtC>gtT	p.V7V	MKLN1_uc011kpl.2_Intron|MKLN1_uc010lmh.2_Silent_p.V7V|MKLN1_uc003vqs.3_5'UTR|AK054623_uc003vqr.1_5'Flank	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	7					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GCGGAGCTGTCGCTGCGGCGC	0.677													7	64					0	0	1	0	0	T	131012679	C	T	131012679	2	4	276	1	0	0	0	0	0	0	0	1	9603	871	31	1		1	MKLN1	7	131012679	Silent	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		131012679	28125984	9	4736											
CSMD1	64478	broad.mit.edu	37	chr8	2832078	2832078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagtagtgcacgacggCgccataggtaaacagctctc	13	11	1	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr8:2832078C>T	uc022aqr.1	-	55	9025	c.8635G>A	c.(8635-8637)Gcc>Acc	p.A2879T	CSMD1_uc011kwj.2_Missense_Mutation_p.A2209T|CSMD1_uc010lrg.3_Missense_Mutation_p.A890T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2880	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCACGACGGCGCCATAGGTA	0.557													6	22					0	0	1	0	0	T	2832078	C	T	2832078	3	4	276	1	0	0	0	0	1	0	0	0	3944	768	27	1	2119	1	CSMD1	8	2832078	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		2832078	143531944	10	4737											
STX17	55014	broad.mit.edu	37	chr9	102713485	102713485	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaactccatttggaAtctgtagaagaacttaagaa	6	8	2	3			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr9:102713485A>G	uc004bal.4	+	3	469	c.333A>G	c.(331-333)gaA>gaG	p.E111E	STX17_uc004bak.3_Silent_p.E111E|STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript	NM_017919	NP_060389	P56962	STX17_HUMAN	Homo sapiens syntaxin 17 (STX17), mRNA.	111					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCCATTTGGAATCTGTAGAAG	0.393													11	40					0	0	1	0	0	G	102713485	A	G	102713485	2	3	276	1	0	0	0	0	0	0	0	1	15339	98	4	3		3	STX17	9	102713485	Silent	SNP	A	TCGA-EM-A3FL-01A-11D-A21A-08		102713485	38499946	11	4738											
NHLRC2	374354	broad.mit.edu	37	chr10	115614727	115614727	+	Frame_Shift_Del	DEL	G	G	-													ctcgacgccgttacccagcaGgagaaggacagcctggtcta							TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr10:115614727delG	uc001lax.2	+	0	337	c.96delG	c.(94-96)cagfs	p.Q32fs	DCLRE1A_uc001law.2_5'Flank	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	32					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTACCCAGCAGGAGAAGGACA	0.672													2	4	---	---	---	---						-	115614727	G	-	115614727	7	5	276	1	0	1	0	1	0	0	0	0	10406	991	35	0	98	0	NHLRC2	10	115614727	Frame_Shift_Del	DEL	G	TCGA-EM-A3FL-01A-11D-A21A-08		115614727	19920020	12	4739											
KDM5A	5927	broad.mit.edu	37	chr12	417066	417066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcggcaaatgcaaaattTtacttcttctatgcggtcca	7	10	2	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:417066T>G	uc001qif.1	-	22	3847	c.3484A>C	c.(3484-3486)Aaa>Caa	p.K1162Q		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1162					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGCAAAATTTTACTTCTTCT	0.448			T	NUP98	AML								28	95					0	0	1	0	0	G	417066	T	G	417066	3	3	276	1	0	0	0	0	1	0	0	0	8133	1850	64	5	1612	5	KDM5A	12	417066	Missense_Mutation	SNP	T	TCGA-EM-A3FL-01A-11D-A21A-08		417066	133434829	13	4740											
XPOT	11260	broad.mit.edu	37	chr12	64810532	64810532	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaacatcaagttaaataCaagtaaggcttttcttactg	7	7	2	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:64810532C>A	uc001ssb.3	+	3	704	c.198C>A	c.(196-198)taC>taA	p.Y66*	XPOT_uc009zqm.2_5'UTR	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	66	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AAGTTAAATACAAGTAAGGCT	0.318													3	77					0	0	1	0	0	A	64810532	C	A	64810532	4	1	276	1	0	0	0	0	0	1	0	0	17447	489	17	4	208	4	XPOT	12	64810532	Nonsense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	64393466	64810532	69041363	14	4741											
DNAH10	196385	broad.mit.edu	37	chr12	124356031	124356031	+	Frame_Shift_Del	DEL	C	C	-													agtggataccactcggactaCctggatattggaacaaatgg							TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:124356031delC	uc001uft.4	+	43	7338	c.7313delC	c.(7312-7314)accfs	p.T2438fs		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2438	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTCGGACTACCTGGATATTG	0.433													2	4	---	---	---	---						-	124356031	C	-	124356031	7	5	276	1	0	1	0	1	0	0	0	0	4598	507	18	0	7487	0	DNAH10	12	124356031	Frame_Shift_Del	DEL	C	TCGA-EM-A3FL-01A-11D-A21A-08	59545499	124356031	9495864	15	4742											
TMEM132B	114795	broad.mit.edu	37	chr12	125834274	125834274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatctacagcctttggaaAcatggacaaatttcccttca	6	11	2	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:125834274A>G	uc001uhe.1	+	1	337	c.329A>G	c.(328-330)aAc>aGc	p.N110S	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	110						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCTTTGGAAACATGGACAAA	0.468													4	114					0	0	1	0	0	G	125834274	A	G	125834274	3	3	276	1	0	0	0	0	1	0	0	0	16043	43	2	3	335	3	TMEM132B	12	125834274	Missense_Mutation	SNP	A	TCGA-EM-A3FL-01A-11D-A21A-08	1478243	125834274	8017621	16	4743											
TPTE2	93492	broad.mit.edu	37	chr13	20004644	20004644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtactggaaaagacaacCtttttctccattactacttg	6	9	1	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:20004644C>A	uc001umd.3	-	17	1477	c.1266G>T	c.(1264-1266)aaG>aaT	p.K422N	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.K311N|TPTE2_uc001ume.3_Missense_Mutation_p.K345N|TPTE2_uc009zzm.3_Missense_Mutation_p.K93N|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.K93N	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	422	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAGACAACCTTTTTCTCCA	0.328													4	21					0	0	1	0	0	A	20004644	C	A	20004644	3	1	276	1	0	0	0	0	1	0	0	0	16428	680	24	4	318	4	TPTE2	13	20004644	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		20004644	95165234	17	4744											
MAB21L1	4081	broad.mit.edu	37	chr13	36050055	36050055	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagataaagcaccacttcaAattcggtgggggagatgacc	12	8	1	3			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:36050055A>T	uc001uvc.3	-	1	803	c.221T>A	c.(220-222)tTt>tAt	p.F74Y	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	74					anatomical structure morphogenesis	nucleus		p.E73K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CACCACTTCAAATTCGGTGGG	0.572													4	132					0	0	1	0	0	T	36050055	A	T	36050055	3	4	276	1	0	0	0	0	1	0	0	0	9141	14	1	5	862	5	MAB21L1	13	36050055	Missense_Mutation	SNP	A	TCGA-EM-A3FL-01A-11D-A21A-08	16045411	36050055	79119823	18	4745											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274320	68274320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccaagtggttctgcgggGcaacgcagagtccgcagggc	15	13	1	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:68274320G>A	uc001xka.2	-	4	820	c.681C>T	c.(679-681)tgC>tgT	p.C227C	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.C227C|ZFYVE26_uc010tta.2_Silent_p.C227C	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	227					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTTCTGCGGGGCAACGCAGAG	0.622													3	53					0	0	1	0	0	A	68274320	G	A	68274320	2	1	276	1	0	0	0	0	0	0	0	1	17665	1195	42	2		2	ZFYVE26	14	68274320	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		68274320	39075220	19	4746											
FAM82A2	55177	broad.mit.edu	37	chr15	41046872	41046872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcggccatgacgctgggtcCgtttccatcgctggctgtaa	13	12	0	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:41046872C>A	uc001zmo.1	-	1	254	c.110G>T	c.(109-111)cGg>cTg	p.R37L	FAM82A2_uc001zmp.1_Missense_Mutation_p.R37L|FAM82A2_uc001zmq.1_Missense_Mutation_p.R37L	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	37					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						ACGCTGGGTCCGTTTCCATCG	0.662													3	64					0	0	1	0	0	A	41046872	C	A	41046872	3	1	276	1	0	0	0	0	1	0	0	0	5631	652	23	4	1350	4	FAM82A2	15	41046872	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		41046872	61484520	20	4747											
NEDD4	4734	broad.mit.edu	37	chr15	56207613	56207613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctttagaacaattgtgctTaaggctggatagacaggaaa	10	7	0	2			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:56207613T>C	uc002adj.3	-	0	1717	c.1417A>G	c.(1417-1419)Aag>Gag	p.K473E	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.K473E|NEDD4_uc010ugj.2_Missense_Mutation_p.K473E|NEDD4_uc010bfm.3_Missense_Mutation_p.K473E|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	473					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAATTGTGCTTAAGGCTGGAT	0.378													5	89					0	0	1	0	0	C	56207613	T	C	56207613	3	2	276	1	0	0	0	0	1	0	0	0	10310	1763	61	3	2642	3	NEDD4	15	56207613	Missense_Mutation	SNP	T	TCGA-EM-A3FL-01A-11D-A21A-08	15160741	56207613	46323779	21	4748											
DHX38	9785	broad.mit.edu	37	chr16	72137670	72137670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcagtgaagagatggggGgaaaccttggcgaggaggtg	20	4	1	2			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr16:72137670G>A	uc002fcb.3	+	12	2162	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	DHX38_uc010vmp.2_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	603	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.G603E(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGAGATGGGGGGAAACCTTGG	0.542													3	54					0	0	1	0	0	A	72137670	G	A	72137670	3	1	276	1	0	0	0	0	1	0	0	0	4511	1233	43	2	1853	2	DHX38	16	72137670	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		72137670	18217083	22	4749											
EML2	24139	broad.mit.edu	37	chr19	46124495	46124495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgagaagcctgtgtgcacGgagccctgcaggatggaatt	15	8	0	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:46124495G>T	uc010ekj.3	-	9	1033	c.992C>A	c.(991-993)cCg>cAg	p.P331Q	EML2_uc002pcn.3_Silent_p.S364S|EML2_uc002pcp.3_Silent_p.S248S|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.S511S|EML2_uc010xxm.2_Silent_p.S565S|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.S364S			O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 2, mRNA.	0					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTGTGTGCACGGAGCCCTGCA	0.642													3	59					0	0	1	0	0	T	46124495	G	T	46124495	3	4	276	1	0	0	0	0	1	0	0	0	5097	1103	39	4	893	4	EML2	19	46124495	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		46124495	13004488	23	4750											
TULP2	7288	broad.mit.edu	37	chr19	49385438	49385438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtccccacgttggtaaCgactcagtagcgactcctgt	10	12	1	0			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:49385438C>T	uc002pkz.2	-	11	1449	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	433					visual perception	cytoplasm|extracellular region		p.R433C(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACGTTGGTAACGACTCAGTAG	0.502													8	24					0	0	1	0	0	T	49385438	C	T	49385438	3	4	276	1	0	0	0	0	1	0	0	0	16771	536	19	1	272	1	TULP2	19	49385438	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	3260943	49385438	9743545	24	4751											
NDUFV3	4731	broad.mit.edu	37	chr21	44329112	44329112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagccctcctcaggccGggagtcacctcgacactgag	11	17	3	1			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr21:44329112G>A	uc002zcm.3	+	3	1469	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q	NDUFV3_uc002zcn.3_Missense_Mutation_p.R103Q	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	103					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TCCTCAGGCCGGGAGTCACCT	0.512													8	173					0	0	1	0	0	A	44329112	G	A	44329112	3	1	276	1	0	0	0	0	1	0	0	0	10301	1116	39	1	1417	1	NDUFV3	21	44329112	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		44329112	3800783	25	4752											
PALMD	54873	broad.mit.edu	37	chr1	100152261	100152261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagatccaagatcttgaaaAagctgaactgcaaatctcaa	7	8	2	4			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr1:100152261A>G	uc001dsg.3	+	3	724	c.281A>G	c.(280-282)aAa>aGa	p.K94R		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	94					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GATCTTGAAAAAGCTGAACTG	0.368													8	30					0	0	1	0	0	G	100152261	A	G	100152261	3	3	277	1	0	0	0	0	1	0	0	0	11411	14	1	3	295	3	PALMD	1	100152261	Missense_Mutation	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		100152261	149098360	1	4753											
VN1R5	317705	broad.mit.edu	37	chr1	247420154	247420154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacagccagcctgtccccgaGtctcaccagtgaaaagagcc	9	16	1	2			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr1:247420154G>C	uc010pyu.2	+	1	778	c.778G>C	c.(778-780)Gtc>Ctc	p.V260L		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	261					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CTGTCCCCGAGTCTCACCAGT	0.468													4	60					0	0	1	0	0	C	247420154	G	C	247420154	3	2	277	1	0	0	0	0	1	0	0	0	17178	1029	36	4	783	4	VN1R5	1	247420154	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08	147267893	247420154	1830467	2	4754											
COL4A3	1285	broad.mit.edu	37	chr2	228118353	228118353	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactggcccagataacagaaCggtaactctgcgattttatg	9	9	1	2			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr2:228118353C>T	uc002vom.2	+	13	927	c.765_splice	c.e13+1	p.T255_splice	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	255	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATAACAGAACGGTAACTCTG	0.468													4	142					0	0	1	0	0	T	228118353	C	T	228118353	5	4	277	1	0	0	0	0	0	0	1	0	3691	550	19	1	814	1	COL4A3	2	228118353	Splice_Site	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		228118353	15081020	3	4755											
NBEAL2	23218	broad.mit.edu	37	chr3	47042545	47042545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgtgctgttctcggtgAcgtggcgtggcgtggaaggc	17	10	1	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:47042545A>G	uc003cqp.3	+	27	4539	c.4360A>G	c.(4360-4362)Acg>Gcg	p.T1454A	NBEAL2_uc010hjm.2_Missense_Mutation_p.T831A|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1454							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTTCTCGGTGACGTGGCGTGG	0.632													3	49					0	0	1	0	0	G	47042545	A	G	47042545	3	3	277	1	0	0	0	0	1	0	0	0	10189	275	10	3	4470	3	NBEAL2	3	47042545	Missense_Mutation	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		47042545	150979885	4	4756											
SLC15A2	6565	broad.mit.edu	37	chr3	121616260	121616260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcctgtatttcctgtaTttcctgcactggaatgaaga	8	9	0	3			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:121616260T>C	uc003eep.2	+	2	372	c.219T>C	c.(217-219)taT>taC	p.Y73Y	SLC15A2_uc011bjn.1_Silent_p.Y73Y	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	73			Y -> C (in dbSNP:rs1143667).		protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ATTTCCTGTATTTCCTGCACT	0.433													57	67					0	0	1	0	0	C	121616260	T	C	121616260	2	2	277	1	0	0	0	0	0	0	0	1	14399	1500	52	3		3	SLC15A2	3	121616260	Silent	SNP	T	TCGA-EM-A3FM-01A-11D-A21A-08	74573715	121616260	76406170	5	4757											
ZNF148	7707	broad.mit.edu	37	chr3	124952243	124952243	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attatcaacctgatcaatgtCagcattgccttctgagtcca	6	11	4	2			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:124952243C>G	uc003ehx.4	-	8	1813	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.D443H|ZNF148_uc010hsa.3_Missense_Mutation_p.D443H|ZNF148_uc003eia.4_Missense_Mutation_p.D443H|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	443					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGATCAATGTCAGCATTGCCT	0.393													3	67					0	0	1	0	0	G	124952243	C	G	124952243	3	3	277	1	0	0	0	0	1	0	0	0	17731	826	29	4	1061	4	ZNF148	3	124952243	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	3335983	124952243	73070187	6	4758											
C7	730	broad.mit.edu	37	chr5	40937653	40937653	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctccttttaacaGttacaatgaactcactggcc	4	15	1	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr5:40937653G>T	uc003jmh.3	+	6	543	c.429_splice	c.e6-1	p.G143_splice	C7_uc011cpn.1_Splice_Site	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	143	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCTTTTAACAGTTACAATGAA	0.378													8	14					0	0	1	0	0	T	40937653	G	T	40937653	5	4	277	1	0	0	0	0	0	0	1	0	2375	1043	36	4	450	4	C7	5	40937653	Splice_Site	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		40937653	139977607	7	4759											
DNAH8	1769	broad.mit.edu	37	chr6	38697694	38697695	+	Frame_Shift_Ins	INS	-	-	T													cagctggaagcatttactaaINStttttttgcgaaagatggtt							TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr6:38697694_38697695insT	uc021yzh.1	+	3	651_652	c.542_543insT	c.(541-543)aatfs	p.N181fs	DNAH8_uc003ooe.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCATTTACTAATTTTTTTGCGA	0.337													2	4	---	---	---	---						T	38697695	-	T	38697694	7	5	277	1	0	1	1	0	0	0	0	0	4607	116	4	0		0	DNAH8	6	38697694	Frame_Shift_Ins	INS	-	TCGA-EM-A3FM-01A-11D-A21A-08		38697694	132417373	8	4760											
TMEM181	57583	broad.mit.edu	37	chr6	158957887	158957887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgcccttcaaggatgacCgctactacaggtgggcgcgg	13	13	2	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr6:158957887C>T	uc003qrm.4	+	0	420	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	TMEM181_uc010kjr.1_Silent_p.T2T	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	Homo sapiens transmembrane protein 181 (TMEM181), mRNA.	137					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CAAGGATGACCGCTACTACAG	0.746													5	39					0	0	1	0	0	T	158957887	C	T	158957887	3	4	277	1	0	0	0	0	1	0	0	0	16097	652	23	1	411	1	TMEM181	6	158957887	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	120260193	158957887	12157180	9	4761											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	45					0	0	1	0	0	T	140453136	A	T	140453136	3	4	277	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		140453136	18685527	10	4762											
NUP214	8021	broad.mit.edu	37	chr9	134004831	134004831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaacagtgaaagtatgtGcaactcttccttccacggta	9	10	1	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr9:134004831G>A	uc004cag.3	+	3	670	c.559G>A	c.(559-561)Gca>Aca	p.A187T	NUP214_uc004cah.3_Missense_Mutation_p.A187T|NUP214_uc004caf.1_Missense_Mutation_p.A187T	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	187					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAAAGTATGTGCAACTCTTCC	0.448			T	"DEK, SET, ABL1"	"AML, T-ALL"								15	176					0	0	1	0	0	A	134004831	G	A	134004831	3	1	277	1	0	0	0	0	1	0	0	0	10762	1319	46	2	573	2	NUP214	9	134004831	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		134004831	7208600	11	4763											
ADARB2	105	broad.mit.edu	37	chr10	1229245	1229245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagactggtaggtgtgcGcccccagcttggcctcacag	12	14	2	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:1229245G>A	uc009xhq.3	-	9	2434	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	ADARB2_uc001igj.2_Missense_Mutation_p.A87V|ADARB2_uc001igl.4_Missense_Mutation_p.A65V|ADARB2_uc001igm.4_Missense_Mutation_p.A212V	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	703	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTAGGTGTGCGCCCCCAGCTT	0.592													5	35					0	0	1	0	0	A	1229245	G	A	1229245	3	1	277	1	0	0	0	0	1	0	0	0	283	1087	38	1	115	1	ADARB2	10	1229245	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		1229245	134305502	12	4764											
FRMD4A	55691	broad.mit.edu	37	chr10	13708265	13708265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactggctaggcggcgggCggcctccgtaatctgggact	16	12	2	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:13708265C>T	uc001ims.3	-	17	1787	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	FRMD4A_uc009xjf.1_Missense_Mutation_p.A479T|FRMD4A_uc001imt.1_Missense_Mutation_p.A512T	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	479						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGCGGCGGGCGGCCTCCGTA	0.527													13	31					0	0	1	0	0	T	13708265	C	T	13708265	3	4	277	1	0	0	0	0	1	0	0	0	6051	768	27	1	1712	1	FRMD4A	10	13708265	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	12479020	13708265	121826482	13	4765											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238544	71238544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggggctccaagggaggCtgtggctcctgtgggggctc	20	9	0	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:71238544C>T	uc001oqq.1	+	0	232	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	66	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G66G(2)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CCAAGGGAGGCTGTGGCTCCT	0.652													8	352					0	0	1	0	0	T	71238544	C	T	71238544	2	4	277	1	0	0	0	0	0	0	0	1	8566	784	28	2		2	KRTAP5-7	11	71238544	Silent	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		71238544	63767972	14	4766											
ADAMTS15	170689	broad.mit.edu	37	chr11	130339245	130339245	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggccaggaggcagtgcaCcaaccccacccctgccaacg	11	18	0	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:130339245C>G	uc010scd.2	+	4	1631	c.1631C>G	c.(1630-1632)aCc>aGc	p.T544S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	544	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGGCAGTGCACCAACCCCACC	0.642													7	52					0	0	1	0	0	G	130339245	C	G	130339245	3	3	277	1	0	0	0	0	1	0	0	0	260	507	18	4	1649	4	ADAMTS15	11	130339245	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	59100701	130339245	4667271	15	4767											
LTBP2	4053	broad.mit.edu	37	chr14	74971835	74971835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtccatgcgggtggggGccggggcatggtcccccgtt	18	12	0	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:74971835G>A	uc001xqa.3	-	28	4607	c.4220C>T	c.(4219-4221)gCc>gTc	p.A1407V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1407					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGGGTGGGGGCCGGGGCATG	0.622													4	66					0	0	1	0	0	A	74971835	G	A	74971835	3	1	277	1	0	0	0	0	1	0	0	0	9074	1203	42	2	1277	2	LTBP2	14	74971835	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		74971835	32377705	16	4768											
SERPINA12	145264	broad.mit.edu	37	chr14	94964650	94964650	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcaaagctttataatTccttggtgagaagctcggct	9	10	1	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:94964650T>A	uc001ydj.3	-	2	881	c.85A>T	c.(85-87)Aat>Tat	p.N29Y		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	29					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCTTTATAATTCCTTGGTGAG	0.473													4	87					0	0	1	0	0	A	94964650	T	A	94964650	3	1	277	1	0	0	0	0	1	0	0	0	14089	1783	62	5	1175	5	SERPINA12	14	94964650	Missense_Mutation	SNP	T	TCGA-EM-A3FM-01A-11D-A21A-08	19992815	94964650	12384890	17	4769											
AKAP13	11214	broad.mit.edu	37	chr15	86270359	86270359	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagaagtggcacatgaggaGaaaggtttattcctgatcag	13	5	1	4			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr15:86270359G>A	uc002blu.1	+	27	7067	c.6897G>A	c.(6895-6897)gaG>gaA	p.E2299E	AKAP13_uc002blv.1_Silent_p.E2295E|AKAP13_uc010bnf.1_Silent_p.E916E|AKAP13_uc002blw.1_Silent_p.E760E|AKAP13_uc002blx.1_Silent_p.E540E	NM_006738	NP_006729	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 1, mRNA.	2295	Interaction with ESR1.|PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACATGAGGAGAAAGGTTTAT	0.433													7	57					0	0	1	0	0	A	86270359	G	A	86270359	2	1	277	1	0	0	0	0	0	0	0	1	449	933	33	2		2	AKAP13	15	86270359	Silent	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		86270359	16261033	18	4770											
CHD3	1107	broad.mit.edu	37	chr17	7797853	7797853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgacacctgccctcGtgcctaccacctcgtctgcc	8	18	2	1	rs144356754		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr17:7797853G>A	uc002gjd.2	+	7	1375	c.1373G>A	c.(1372-1374)cGt>cAt	p.R458H	CHD3_uc002gje.2_Missense_Mutation_p.R399H|CHD3_uc002gjf.2_Missense_Mutation_p.R399H|CHD3_uc002gjg.1_Missense_Mutation_p.R227H	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	399					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCTGCCCTCGTGCCTACCAC	0.577													7	184					0	0	1	0	0	A	7797853	G	A	7797853	3	1	277	1	0	0	0	0	1	0	0	0	3326	1145	40	1	1507	1	CHD3	17	7797853	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		7797853	73397357	19	4771											
MAPK4	5596	broad.mit.edu	37	chr18	48190438	48190438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggtttggtgctgtcggCcgtggacagccgggcctgcc	16	12	0	0			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr18:48190438C>T	uc002lev.3	+	1	1110	c.110C>T	c.(109-111)gCc>gTc	p.A37V	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.A37V	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	37	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GTGCTGTCGGCCGTGGACAGC	0.597													8	118					0	0	1	0	0	T	48190438	C	T	48190438	3	4	277	1	0	0	0	0	1	0	0	0	9280	739	26	2	112	2	MAPK4	18	48190438	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		48190438	29886810	20	4772											
ZNF136	7695	broad.mit.edu	37	chr19	12297911	12297911	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacttgtatcacaagtgttCgaagacacatgataaagcac	7	9	2	2			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr19:12297911C>T	uc002mti.3	+	3	865	c.718C>T	c.(718-720)Cga>Tga	p.R240*	ZNF136_uc010xmh.2_Nonsense_Mutation_p.R174*	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	240					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CACAAGTGTTCGAAGACACAT	0.393													28	35					0	0	1	0	0	T	12297911	C	T	12297911	4	4	277	1	0	0	0	0	0	1	0	0	17723	876	31	1	732	1	ZNF136	19	12297911	Nonsense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		12297911	46831072	21	4773											
ZNF341	84905	broad.mit.edu	37	chr20	32336877	32336877	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccccccacctgtgcAggtaagaaggtgtgggcttc	14	13	0	1			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr20:32336877A>G	uc002wzy.3	+	4	509	c.489_splice	c.e4+1	p.Q163_splice	ZNF341_uc002wzx.3_Splice_Site_p.Q163_splice|ZNF341_uc010geq.3_Splice_Site_p.Q73_splice|ZNF341_uc010ger.3_Splice_Site	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	163	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCACCTGTGCAGGTAAGAAGG	0.557													3	66					0	0	1	0	0	G	32336877	A	G	32336877	5	3	277	1	0	0	0	0	0	0	1	0	17854	202	7	3	502	3	ZNF341	20	32336877	Splice_Site	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		32336877	30688643	22	4774											
OR5K1	26339	broad.mit.edu	37	chr3	98189173	98189173	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttttgtcagtttcattattCtatggatctcttttcttcat	4	7	6	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr3:98189173C>A	uc003dsm.3	+	0	753	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCATTATTCTATGGATCTC	0.343													13	36					0	0	1	0	0	A	98189173	C	A	98189173	3	1	278	1	0	0	0	0	1	0	0	0	11166	912	32	4	755	4	OR5K1	3	98189173	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		98189173	99833257	1	4775											
CPOX	1371	broad.mit.edu	37	chr3	98304370	98304370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacaaggggaatgtaagaagGaactacagccctggcacagc	12	10	0	1			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr3:98304370G>T	uc003dsx.3	-	4	1194	c.1087C>A	c.(1087-1089)Cct>Act	p.P363T		NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	363						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATGTAAGAAGGAACTACAGCC	0.507													13	208					0	0	1	0	0	T	98304370	G	T	98304370	3	4	278	1	0	0	0	0	1	0	0	0	3821	1174	41	4	289	4	CPOX	3	98304370	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	115197	98304370	99718060	2	4776											
RASGEF1B	153020	broad.mit.edu	37	chr4	82366917	82366917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catacagatttctgtagcaaCcaagtagctgaggcgattaa	9	8	1	2			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr4:82366917C>A	uc003hmi.1	-	6	949	c.805G>T	c.(805-807)Gtt>Ttt	p.V269F	RASGEF1B_uc003hmj.1_Missense_Mutation_p.V268F|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V227F	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	269	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TCTGTAGCAACCAAGTAGCTG	0.363													4	44					0	0	1	0	0	A	82366917	C	A	82366917	3	1	278	1	0	0	0	0	1	0	0	0	13070	507	18	4	648	4	RASGEF1B	4	82366917	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		82366917	108787359	3	4777											
SYTL3	94120	broad.mit.edu	37	chr6	159184419	159184419	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgcccccagtggaaacactCatttgtcttcagtggcgtaa	9	11	3	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr6:159184419C>G	uc003qrp.3	+	17	2000	c.1601C>G	c.(1600-1602)tCa>tGa	p.S534*	SYTL3_uc003qrr.3_Nonsense_Mutation_p.S534*|SYTL3_uc003qro.3_Nonsense_Mutation_p.S466*|SYTL3_uc003qrs.3_Nonsense_Mutation_p.S466*|SYTL3_uc011efq.2_Nonsense_Mutation_p.S260*	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	534	C2 2.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TGGAAACACTCATTTGTCTTC	0.527													35	65					0	0	1	0	0	G	159184419	C	G	159184419	4	3	278	1	0	0	0	0	0	1	0	0	15481	838	29	4	1443	4	SYTL3	6	159184419	Nonsense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		159184419	11930648	4	4778											
ACTB	60	broad.mit.edu	37	chr7	5568116	5568116	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcggccgtggtggtgaAgctgtagccgcgctcggtga	17	12	0	2			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:5568116A>C	uc003sot.4	-	3	682	c.598T>G	c.(598-600)Ttc>Gtc	p.F200V	ACTB_uc003sor.4_Missense_Mutation_p.F78V|ACTB_uc003soq.4_Missense_Mutation_p.F78V	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	200					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GTGGTGGTGAAGCTGTAGCCG	0.622													43	55					0	0	1	0	0	C	5568116	A	C	5568116	3	2	278	1	0	0	0	0	1	0	0	0	193	72	3	5	541	5	ACTB	7	5568116	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08		5568116	153570547	5	4779											
HDAC9	9734	broad.mit.edu	37	chr7	18688246	18688246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagctggtcattcaacaGcaacaccagcaattcttgga	8	12	4	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:18688246G>A	uc003sui.3	+	9	1448	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q	HDAC9_uc003sue.3_Silent_p.Q466Q|HDAC9_uc011jyd.2_Silent_p.Q466Q|HDAC9_uc003suh.3_Silent_p.Q466Q|HDAC9_uc003suj.3_Silent_p.Q425Q|HDAC9_uc011jya.2_Silent_p.Q464Q|HDAC9_uc003sua.1_Silent_p.Q444Q|HDAC9_uc003sud.2_Silent_p.Q466Q|HDAC9_uc011jyc.2_Silent_p.Q425Q|HDAC9_uc011jyb.2_Silent_p.Q422Q|HDAC9_uc003suf.2_Silent_p.Q497Q|HDAC9_uc010kud.2_Silent_p.Q469Q|HDAC9_uc011jye.2_Silent_p.Q438Q|HDAC9_uc011jyf.2_Silent_p.Q389Q|HDAC9_uc010kue.1_Silent_p.Q209Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	466					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCATTCAACAGCAACACCAGC	0.507													3	80					0	0	1	0	0	A	18688246	G	A	18688246	2	1	278	1	0	0	0	0	0	0	0	1	7014	962	34	2		2	HDAC9	7	18688246	Silent	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	13120130	18688246	140450417	6	4780											
SLC25A13	10165	broad.mit.edu	37	chr7	95822462	95822462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagcattgtcccgttgcaCaaaggcttgctttgcgtgct	10	12	0	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:95822462C>T	uc003uog.4	-	5	693	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	SLC25A13_uc003uof.4_Missense_Mutation_p.V168M|SLC25A13_uc011kik.2_Missense_Mutation_p.V60M	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	168	EF-hand 4.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCCCGTTGCACAAAGGCTTGC	0.413													37	55					0	0	1	0	0	T	95822462	C	T	95822462	3	4	278	1	0	0	0	0	1	0	0	0	14475	478	17	2	1580	2	SLC25A13	7	95822462	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08	77134216	95822462	63316201	7	4781											
COL14A1	7373	broad.mit.edu	37	chr8	121238917	121238917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggtgacgacagacaGttttagggtgacctggcatc	14	7	0	5			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr8:121238917G>A	uc003yox.3	+	15	2181	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N	COL14A1_uc003yoy.3_Missense_Mutation_p.S317N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	639	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACGACAGACAGTTTTAGGGTG	0.473													3	57					0	0	1	0	0	A	121238917	G	A	121238917	3	1	278	1	0	0	0	0	1	0	0	0	3671	1029	36	2	1974	2	COL14A1	8	121238917	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		121238917	25125105	8	4782											
NDUFA9	4704	broad.mit.edu	37	chr12	4791380	4791380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttttatagtcccagtcgGtacctccttttccacctggt	6	13	1	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr12:4791380G>A	uc001qnc.3	+	8	839	c.810G>A	c.(808-810)cgG>cgA	p.R270R	NDUFA9_uc010ses.2_Silent_p.R51R	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	270					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.R270L(1)|p.R270Q(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	GTCCCAGTCGGTACCTCCTTT	0.398													4	152					0	0	1	0	0	A	4791380	G	A	4791380	2	1	278	1	0	0	0	0	0	0	0	1	10272	1248	44	2		2	NDUFA9	12	4791380	Silent	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		4791380	129060515	9	4783											
FOXJ2	55810	broad.mit.edu	37	chr12	8202170	8202170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcagccatgagccaaggtActgcaccaagccagttgcca	10	13	1	1			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr12:8202170A>C	uc001qtt.1	+	8	2625	c.1540A>C	c.(1540-1542)Act>Cct	p.T514P	FOXJ2_uc001qtu.3_Intron	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	321					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GAGCCAAGGTACTGCACCAAG	0.557													6	19					0	0	1	0	0	C	8202170	A	C	8202170	3	2	278	1	0	0	0	0	1	0	0	0	6012	406	14	5		5	FOXJ2	12	8202170	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08	3410790	8202170	125649725	10	4784											
SP1	6667	broad.mit.edu	37	chr12	53804795	53804795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatatcaagacccaccagaAtaagaagggaggcccaggtg	11	10	1	3			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr12:53804795A>G	uc001scw.3	+	5	2226	c.2129A>G	c.(2128-2130)aAt>aGt	p.N710S	SP1_uc021qyf.1_Missense_Mutation_p.N662S|SP1_uc010sog.2_Missense_Mutation_p.N703S	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	710	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACCCACCAGAATAAGAAGGGA	0.532													7	65					0	0	1	0	0	G	53804795	A	G	53804795	3	3	278	1	0	0	0	0	1	0	0	0	14959	101	4	3	2151	3	SP1	12	53804795	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08	45602625	53804795	80047100	11	4785											
OR5AU1	390445	broad.mit.edu	37	chr14	21623307	21623307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggcagtgaggtgggatGcacaggtggaaaatgcctta	16	5	0	2			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:21623307G>A	uc010tlp.2	-	0	878	c.878C>T	c.(877-879)gCa>gTa	p.A293V		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GAGGTGGGATGCACAGGTGGA	0.522													3	53					0	0	1	0	0	A	21623307	G	A	21623307	3	1	278	1	0	0	0	0	1	0	0	0	11147	1319	46	2	213	2	OR5AU1	14	21623307	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		21623307	85726233	12	4786											
CMA1	1215	broad.mit.edu	37	chr14	24976707	24976707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattctgtgcccccgatgaTctcccctggaacagagcacc	9	16	2	2			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:24976707T>C	uc001wpp.1	-	1	94	c.64A>G	c.(64-66)Atc>Gtc	p.I22V	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	22	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.E21D(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCCCCGATGATCTCCCCTGGA	0.507													5	203					0	0	1	0	0	C	24976707	T	C	24976707	3	2	278	1	0	0	0	0	1	0	0	0	3574	1435	50	3	695	3	CMA1	14	24976707	Missense_Mutation	SNP	T	TCGA-EM-A3FN-01A-11D-A21A-08	3353400	24976707	82372833	13	4787											
ADCK1	57143	broad.mit.edu	37	chr14	78365449	78365449	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggatttcaggtgctcGttctggctgtgaagcagctg	14	7	2	1			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:78365449G>C	uc001xui.3	+	5	688	c.589G>C	c.(589-591)Gtt>Ctt	p.V197L	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.V129L|ADCK1_uc001xuk.1_Missense_Mutation_p.V71L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	204	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TCAGGTGCTCGTTCTGGCTGT	0.507													48	117					0	0	1	0	0	C	78365449	G	C	78365449	3	2	278	1	0	0	0	0	1	0	0	0	288	1145	40	4	607	4	ADCK1	14	78365449	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	53388742	78365449	28984091	14	4788											
TP53BP1	7158	broad.mit.edu	37	chr15	43712831	43712831	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacatctgttcgtctggtGgagtctggcactcggggcac	13	13	3	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr15:43712831G>T	uc001zrr.4	-	20	4466	c.4353C>A	c.(4351-4353)tcC>tcA	p.S1451S	TP53BP1_uc010udp.2_Silent_p.S1446S|TP53BP1_uc001zrq.4_Silent_p.S1451S|TP53BP1_uc001zrs.3_Silent_p.S1446S|TP53BP1_uc010udq.1_Silent_p.S1451S	NM_001141980	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA.	1446					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding	p.D1451Y(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCGTCTGGTGGAGTCTGGCA	0.542								Other conserved DNA damage response genes					41	55					0	0	1	0	0	T	43712831	G	T	43712831	2	4	278	1	0	0	0	0	0	0	0	1	16380	1335	47	4		4	TP53BP1	15	43712831	Silent	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		43712831	58818561	15	4789											
PRPF8	10594	broad.mit.edu	37	chr17	1579616	1579616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttccaaccaatgcactgTggtggtatatactgccactg	9	11	0	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr17:1579616T>C	uc002fte.3	-	16	2551	c.2437A>G	c.(2437-2439)Aca>Gca	p.T813A		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	813						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CAATGCACTGTGGTGGTATAT	0.537													8	114					0	0	1	0	0	C	1579616	T	C	1579616	3	2	278	1	0	0	0	0	1	0	0	0	12575	1696	59	3	4678	3	PRPF8	17	1579616	Missense_Mutation	SNP	T	TCGA-EM-A3FN-01A-11D-A21A-08		1579616	79615594	16	4790											
COL5A3	50509	broad.mit.edu	37	chr19	10071487	10071487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtaggtgaagttctggCgagctgtggcactcagcagt	16	7	2	1			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr19:10071487C>T	uc002mmq.1	-	65	5017	c.4931G>A	c.(4930-4932)cGc>cAc	p.R1644H		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1644	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAAGTTCTGGCGAGCTGTGGC	0.607													4	84					0	0	1	0	0	T	10071487	C	T	10071487	3	4	278	1	0	0	0	0	1	0	0	0	3698	768	27	1	314	1	COL5A3	19	10071487	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		10071487	49057496	17	4791											
AVP	551	broad.mit.edu	37	chr20	3065238	3065238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacatggccctcttgccgCccctcgggcagttctggaag	13	15	2	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr20:3065238C>T	uc002whu.3	-	0	133	c.83G>A	c.(82-84)gGc>gAc	p.G28D		NM_000490	NP_000481	P01185	NEU2_HUMAN	Homo sapiens arginine vasopressin (AVP), mRNA.	28					ERK1 and ERK2 cascade|cell-cell signaling|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	V1A vasopressin receptor binding|caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		CCTCTTGCCGCCCCTCGGGCA	0.647													7	195					0	0	1	0	0	T	3065238	C	T	3065238	3	4	278	1	0	0	0	0	1	0	0	0	1229	739	26	2	423	2	AVP	20	3065238	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		3065238	59960282	18	4792											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46078031	46078031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcacgcgcattgtgtgCgtggctccctcctgccagcc	12	16	0	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr21:46078031C>T	uc002zft.3	+	0	183	c.135C>T	c.(133-135)tgC>tgT	p.C45C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	45	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCATTGTGTGCGTGGCTCCCT	0.642													6	267					0	0	1	0	0	T	46078031	C	T	46078031	2	4	278	1	0	0	0	0	0	0	0	1	8520	776	27	1		1	KRTAP12-3	21	46078031	Silent	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		46078031	2051864	19	4793											
ANKRD54	129138	broad.mit.edu	37	chr22	38240354	38240357	+	Splice_Site	DEL	GGGC	GGGC	-													agcgagctggcgggcgggcaGggcccgcaaccacggcaacc							TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr22:38240354_38240357delGGGC	uc003auc.3	-	1	1	c.-107_splice	c.e1-1		ANKRD54_uc003aud.3_Splice_Site|ANKRD54_uc021wpj.1_Non-coding_Transcript	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.											lung(1)	1	Melanoma(58;0.045)					CGGGCGGGCAGGGCCCGCAACCAC	0.686													8	8	---	---	---	---						-	38240357	GGGC	-	38240354	8	5	278	1	0	1	0	1	0	0	1	0	680	1015	35	0		0	ANKRD54	22	38240354	Splice_Site	DEL	GGGC	TCGA-EM-A3FN-01A-11D-A21A-08		38240354	13064212	20	4794											
MOV10L1	54456	broad.mit.edu	37	chr22	50582545	50582545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtacactttgccttgccggAcagtcggattttagtctgtg	12	9	1	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr22:50582545A>G	uc003bjj.3	+	17	2461	c.2378A>G	c.(2377-2379)gAc>gGc	p.D793G	MOV10L1_uc003bjk.4_Missense_Mutation_p.D793G|MOV10L1_uc011arp.2_Missense_Mutation_p.D773G|MOV10L1_uc003bjl.3_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	793					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCCTTGCCGGACAGTCGGATT	0.562													78	158					0	0	1	0	0	G	50582545	A	G	50582545	3	3	278	1	0	0	0	0	1	0	0	0	9719	275	10	3	2489	3	MOV10L1	22	50582545	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08	12342191	50582545	722021	21	4795											
EIF1AX	1964	broad.mit.edu	37	chrX	20156735	20156735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtctgtttttacctcCtttacctgatggtttaaaaa	6	10	1	1			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:20156735C>T	uc004czt.3	-	1	230	c.22G>A	c.(22-24)Gga>Aga	p.G8R	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	8						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308													30	67					0	0	1	0	0	T	20156735	C	T	20156735	3	4	278	1	0	0	0	0	1	0	0	0	4992	690	24	2	436	2	EIF1AX	23	20156735	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		20156735	135113825	22	4796											
ARX	170302	broad.mit.edu	37	chrX	25031220	25031220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctcagcgtcttccgggtGcagcagcagctcctccttgg	12	16	2	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:25031220G>T	uc004dbp.4	-	1	1103	c.892C>A	c.(892-894)Cac>Aac	p.H298N		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	Homo sapiens aristaless related homeobox (ARX), mRNA.	298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						TCTTCCGGGTGCAGCAGCAGC	0.697													6	12					0	0	1	0	0	T	25031220	G	T	25031220	3	4	278	1	0	0	0	0	1	0	0	0	1004	1319	46	4	812	4	ARX	23	25031220	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	4874485	25031220	130239340	23	4797											
SATL1	340562	broad.mit.edu	37	chrX	84363501	84363501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgtgcctaattggctGgtgcctacttgtctcatgct	11	10	1	0			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:84363501G>A	uc004een.3	-	0	474	c.474C>T	c.(472-474)acC>acT	p.T158T		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	214	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTAATTGGCTGGTGCCTACTT	0.532											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	81					0	0	1	0	0	A	84363501	G	A	84363501	2	1	278	1	0	0	0	0	0	0	0	1	13855	1335	47	2		2	SATL1	23	84363501	Silent	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	59332281	84363501	70907059	24	4798											
PPM1J	333926	broad.mit.edu	37	chr1	113257891	113257892	+	Frame_Shift_Del	DEL	GT	GT	-													gcgcccccggagctcaccagGtgcgccacggccgagcgcac							TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr1:113257891_113257892delGT	uc001ect.1	-	0	59_60	c.32_33delAC	c.(31-33)cacfs	p.H11fs	PPM1J_uc009wgl.1_5'Flank|PPM1J_uc001ecs.1_5'UTR	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	11										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTCACCAGGTGCGCCACGGC	0.802													3	4	---	---	---	---						-	113257892	GT	-	113257891	7	5	279	1	0	1	0	1	0	0	0	0	12342	1252	44	0	1524	0	PPM1J	1	113257891	Frame_Shift_Del	DEL	GT	TCGA-EM-A3FO-01A-11D-A21A-08		113257891	135992730	1	4799											
ATP8B2	57198	broad.mit.edu	37	chr1	154300618	154300618	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatcttgctgggtgagAtggcagtgtgtgcaaaaaag	16	5	1	1			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr1:154300618A>T	uc001fex.3	+	1	100	c.100A>T	c.(100-102)Atg>Ttg	p.M34L	ATP8B2_uc001few.3_Missense_Mutation_p.M1L|ATP8B2_uc001fey.1_5'Flank	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	0					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGGGTGAGATGGCAGTGTG	0.552													6	134					0	0	1	0	0	T	154300618	A	T	154300618	3	4	279	1	0	0	0	0	1	0	0	0	1195	333	12	5	106	5	ATP8B2	1	154300618	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08	41042727	154300618	94950003	2	4800											
LMX1A	4009	broad.mit.edu	37	chr1	165322431	165322431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagctgtcgttgagccGcagcagaaacctgtccaaga	11	12	0	4			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr1:165322431G>A	uc001gcz.2	-	2	339	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	LMX1A_uc021pdz.1_Missense_Mutation_p.R49W	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	49	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCGTTGAGCCGCAGCAGAAAC	0.607													3	70					0	0	1	0	0	A	165322431	G	A	165322431	3	1	279	1	0	0	0	0	1	0	0	0	8861	1086	38	1	1031	1	LMX1A	1	165322431	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08	11021813	165322431	83928190	3	4801											
BAZ2B	29994	broad.mit.edu	37	chr2	160289578	160289578	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatttacaggtgaggaaaaAggggtgctacttgcagcagc	14	6	0	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr2:160289578A>G	uc002uao.3	-	8	1995	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	BAZ2B_uc002uap.3_Silent_p.P528P|BAZ2B_uc002uas.1_Silent_p.P467P|BAZ2B_uc002uaq.1_Silent_p.P458P|BAZ2B_uc002uar.1_Silent_p.P103P	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	530			P -> L (in dbSNP:rs3732287).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGAGGAAAAAGGGGTGCTAC	0.443													3	190					0	0	1	0	0	G	160289578	A	G	160289578	2	3	279	1	0	0	0	0	0	0	0	1	1332	59	3	3		3	BAZ2B	2	160289578	Silent	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08		160289578	82909795	4	4802											
TACR3	6870	broad.mit.edu	37	chr4	104510921	104510921	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttggaattcctgcgagagCagccattgaaacttgggtct	11	8	1	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr4:104510921C>A	uc003hxe.1	-	4	1457	c.1316G>T	c.(1315-1317)tGc>tTc	p.C439F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	439				C -> F (in Ref. 3; CAA46291).		integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCTGCGAGAGCAGCCATTGAA	0.478													4	174					0	0	1	0	0	A	104510921	C	A	104510921	3	1	279	1	0	0	0	0	1	0	0	0	15504	710	25	4	85	4	TACR3	4	104510921	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08		104510921	86643355	5	4803											
ENPP1	5167	broad.mit.edu	37	chr6	132171140	132171140	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttttcagttaaaagttgCaaaggtcgctgtttcgagag	10	5	1	1			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr6:132171140C>A	uc011ecf.2	+	2	344	c.324C>A	c.(322-324)tgC>tgA	p.C108*		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	108	SMB 1.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTAAAAGTTGCAAAGGTCGCT	0.378													10	89					0	0	1	0	0	A	132171140	C	A	132171140	4	1	279	1	0	0	0	0	0	1	0	0	5129	718	25	4	334	4	ENPP1	6	132171140	Nonsense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08		132171140	38943927	6	4804											
ZC3HC1	51530	broad.mit.edu	37	chr7	129666092	129666092	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttttctctcatcagttcGgtgatcaagttcatcttcaa	6	9	7	1			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr7:129666092G>T	uc003vpi.3	-	5	709	c.682C>A	c.(682-684)Cga>Aga	p.R228R	ZC3HC1_uc010lma.3_Silent_p.R115R	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	228					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	p.H227R(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCATCAGTTCGGTGATCAAGT	0.448													3	75					0	0	1	0	0	T	129666092	G	T	129666092	2	4	279	1	0	0	0	0	0	0	0	1	17574	1124	39	4		4	ZC3HC1	7	129666092	Silent	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		129666092	29472571	7	4805											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	51					0	0	1	0	0	T	140453136	A	T	140453136	3	4	279	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08	10787044	140453136	18685527	8	4806											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr11:281566A>G	uc010qvs.2	+	3	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_uc010qvt.2_Missense_Mutation_p.E611G	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662													4	184					0	0	1	0	0	G	281566	A	G	281566	3	3	279	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08		281566	134724950	9	4807											
DYNC1H1	1778	broad.mit.edu	37	chr14	102484914	102484914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggacgtatgcagagccGctcactgctgccatggtgga	14	12	1	1	rs77113510	byFrequency	TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr14:102484914G>A	uc001yks.2	+	40	8468	c.8304G>A	c.(8302-8304)ccG>ccA	p.P2768P	DYNC1H1_uc001ykt.1_Silent_p.P259P	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2768	AAA 3 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGCAGAGCCGCTCACTGCTG	0.537													3	57					0	0	1	0	0	A	102484914	G	A	102484914	2	1	279	1	0	0	0	0	0	0	0	1	4841	1074	38	1		1	DYNC1H1	14	102484914	Silent	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		102484914	4864626	10	4808											
PIK3R5	23533	broad.mit.edu	37	chr17	8809033	8809033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagcggggtgagcaggtCgtaggtgcccttctcctgga	17	11	1	1			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr17:8809033C>T	uc002glt.3	-	3	293	c.226G>A	c.(226-228)Gac>Aac	p.D76N	PIK3R5_uc010vuz.2_Missense_Mutation_p.D76N|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	76	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GTGAGCAGGTCGTAGGTGCCC	0.602													8	14					0	0	1	0	0	T	8809033	C	T	8809033	3	4	279	1	0	0	0	0	1	0	0	0	11922	884	31	1	2480	1	PIK3R5	17	8809033	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08		8809033	72386177	11	4809											
ACACA	31	broad.mit.edu	37	chr17	35603828	35603828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccagcagaaggtgagcGcatcaccgatgggtcatttt	11	11	2	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr17:35603828G>A	uc002hno.3	-	18	2887	c.2374C>T	c.(2374-2376)Cgc>Tgc	p.R792C	ACACA_uc002hnk.3_Missense_Mutation_p.R677C|ACACA_uc002hnl.3_Missense_Mutation_p.R697C|ACACA_uc002hnm.3_Missense_Mutation_p.R755C|ACACA_uc002hnn.3_Missense_Mutation_p.R755C|ACACA_uc010cuz.3_Missense_Mutation_p.R755C	NM_198834	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 1, mRNA.	755	Biotinyl-binding.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAGGTGAGCGCATCACCGAT	0.458													4	149					0	0	1	0	0	A	35603828	G	A	35603828	3	1	279	1	0	0	0	0	1	0	0	0	106	1087	38	1	4929	1	ACACA	17	35603828	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08	26794795	35603828	45591382	12	4810											
EPX	8288	broad.mit.edu	37	chr17	56274516	56274516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctggccatcaaccagCgctttcaagacaacggccgg	12	14	2	1	rs116223936	byFrequency	TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr17:56274516C>T	uc002ivq.3	+	6	1137	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	340					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CATCAACCAGCGCTTTCAAGA	0.647													12	139					0	0	1	0	0	T	56274516	C	T	56274516	3	4	279	1	0	0	0	0	1	0	0	0	5200	768	27	1	1044	1	EPX	17	56274516	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08	20670688	56274516	24920694	13	4811											
SERPINB2	5055	broad.mit.edu	37	chr18	61569116	61569116	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctttccgtgtaaactcGgtatgagacaacaaaataca	6	9	0	1	rs150189388		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr18:61569116G>A	uc010xeu.2	+	7	1011	c.678_splice	c.e7+1	p.S226_splice	SERPINB2_uc002ljo.3_Splice_Site_p.S226_splice|SERPINB2_uc002ljp.1_Splice_Site_p.S31_splice|SERPINB2_uc002ljq.1_Splice_Site_p.S31_splice	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	226					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTGTAAACTCGGTATGAGACA	0.373													6	95					0	0	1	0	0	A	61569116	G	A	61569116	5	1	279	1	0	0	0	0	0	0	1	0	14101	1130	39	1	696	1	SERPINB2	18	61569116	Splice_Site	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		61569116	16508132	14	4812											
ZNF468	90333	broad.mit.edu	37	chr19	53344535	53344535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccagatatgaattatAtgcgaaagcctcatcacaaa	6	8	2	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr19:53344535A>G	uc002qaf.3	-	3	1163	c.1012T>C	c.(1012-1014)Tat>Cat	p.Y338H	ZNF468_uc002qae.3_Missense_Mutation_p.Y285H|ZNF468_uc021uzb.1_Missense_Mutation_p.Y285H	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TATGAATTATATGCGAAAGCC	0.368													3	161					0	0	1	0	0	G	53344535	A	G	53344535	3	3	279	1	0	0	0	0	1	0	0	0	17925	449	16	3	560	3	ZNF468	19	53344535	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08		53344535	5784448	15	4813											
MAPRE1	22919	broad.mit.edu	37	chr20	31427653	31427653	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacgacgaggcagctgagttGatgcagcaggtgggcacccc	16	11	0	2			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr20:31427653G>T	uc002wyh.3	+	4	727	c.588G>T	c.(586-588)ttG>ttT	p.L196F		NM_012325	NP_036457	Q15691	MARE1_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.	196	EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CAGCTGAGTTGATGCAGCAGG	0.587													4	183					0	0	1	0	0	T	31427653	G	T	31427653	3	4	279	1	0	0	0	0	1	0	0	0	9294	1281	45	4	602	4	MAPRE1	20	31427653	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		31427653	31597867	16	4814											
MBNL3	55796	broad.mit.edu	37	chrX	131525027	131525027	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacagtattatcactcgcttCaatcatggaagcatcagtag	7	10	4	0			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chrX:131525027C>T	uc004ewv.4	-	3	1322	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	AK095439_uc004ewr.1_Intron|MBNL3_uc004eww.3_Missense_Mutation_p.E111K|MBNL3_uc004ewt.3_Missense_Mutation_p.E157K|MBNL3_uc004ewx.2_Missense_Mutation_p.E157K|MBNL3_uc011muz.2_Missense_Mutation_p.E111K|MBNL3_uc004ewu.4_Missense_Mutation_p.E207K	NM_018388	NP_001164175	Q9NUK0	MBNL3_HUMAN	Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA.	207					RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TCACTCGCTTCAATCATGGAA	0.468													4	88					0	0	1	0	0	T	131525027	C	T	131525027	3	4	279	1	0	0	0	0	1	0	0	0	9355	835	29	2	526	2	MBNL3	23	131525027	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08		131525027	23745533	17	4815											
GNG5	2787	broad.mit.edu	37	chr1	84967626	84967626	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattctgcagacagaactGtttcaagtctgcagctgcct	9	11	3	2			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr1:84967626G>A	uc001djw.4	-	2	463	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_005274	NP_005265	P63218	GBG5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 5 (GNG5), mRNA.	37					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.K36N(1)		lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGACAGAACTGTTTCAAGTCT	0.438													14	34					0	0	1	0	0	A	84967626	G	A	84967626	4	1	280	1	0	0	0	0	0	1	0	0	6530	1386	48	2	101	2	GNG5	1	84967626	Nonsense_Mutation	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		84967626	164282995	1	4816											
PMS1	5378	broad.mit.edu	37	chr2	190732589	190732589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagatgaccaaagatacAgtggatcaacttacctgtct	8	10	2	3			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:190732589A>G	uc002urh.4	+	10	2936	c.2407A>G	c.(2407-2409)Agt>Ggt	p.S803G	PMS1_uc002urk.4_Missense_Mutation_p.S764G|PMS1_uc002uri.4_Missense_Mutation_p.S641G|PMS1_uc010zgc.2_Missense_Mutation_p.S627G|PMS1_uc010zgd.2_Missense_Mutation_p.S627G|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Intron|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.S426G|PMS1_uc002urm.3_Non-coding_Transcript	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	803					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CCAAAGATACAGTGGATCAAC	0.323			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					16	30					0	0	1	0	0	G	190732589	A	G	190732589	3	3	280	1	0	0	0	0	1	0	0	0	12142	188	7	3	2445	3	PMS1	2	190732589	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08		190732589	52466784	2	4817											
HGD	3081	broad.mit.edu	37	chr3	120389285	120389285	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaggttacctggttaggatCaggatcaacttcatcccagt	9	11	3	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr3:120389285C>G	uc003edw.3	-	3	731	c.271G>C	c.(271-273)Gat>Cat	p.D91H		NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	91					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGGTTAGGATCAGGATCAACT	0.418													26	72					0	0	1	0	0	G	120389285	C	G	120389285	3	3	280	1	0	0	0	0	1	0	0	0	7084	826	29	4	1110	4	HGD	3	120389285	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		120389285	77633145	3	4818											
EGFL8	80864	broad.mit.edu	37	chr6	32135285	32135285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcctttctagtgggcCggtcaggctggggcctgggt	15	11	3	0	rs146401113	byFrequency	TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:32135285C>T	uc003oab.1	+	7	794	c.687C>T	c.(685-687)gcC>gcT	p.A229A	EGFL8_uc003nzy.2_Non-coding_Transcript|EGFL8_uc003oac.1_Silent_p.A229A	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.	229						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCTAGTGGGCCGGTCAGGCTG	0.677													26	48					0	0	1	0	0	T	32135285	C	T	32135285	2	4	280	1	0	0	0	0	0	0	0	1	4965	639	23	1		1	EGFL8	6	32135285	Silent	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		32135285	138979782	4	4819											
ZBTB22	9278	broad.mit.edu	37	chr6	33283858	33283858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgggtctccggagcccaGccccaggaaccactgccccc	12	18	1	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:33283858G>T	uc003oeb.3	-	1	988	c.836C>A	c.(835-837)gCt>gAt	p.A279D	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.A279D|ZBTB22_uc021ywm.1_Missense_Mutation_p.A279D	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCGGAGCCCAGCCCCAGGAAC	0.617													24	59					0	0	1	0	0	T	33283858	G	T	33283858	3	4	280	1	0	0	0	0	1	0	0	0	17527	971	34	4	1072	4	ZBTB22	6	33283858	Missense_Mutation	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08	1148573	33283858	137831209	5	4820											
INTS1	26173	broad.mit.edu	37	chr7	1516466	1516466	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagcaggactcggatgCactggtgcagtgtgggccag	16	11	0	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:1516466C>G	uc003skn.2	-	35	5128	c.5027G>C	c.(5026-5028)tGc>tCc	p.C1676S		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1676					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GACTCGGATGCACTGGTGCAG	0.652													13	27					0	0	1	0	0	G	1516466	C	G	1516466	3	3	280	1	0	0	0	0	1	0	0	0	7775	710	25	4	1597	4	INTS1	7	1516466	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		1516466	157622197	6	4821											
TBL2	26608	broad.mit.edu	37	chr7	72992835	72992835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagggccagcagcccaagCaacaccgacagccccatgag	10	16	1	1			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:72992835C>A	uc003tyh.3	-	0	179	c.45G>T	c.(43-45)ttG>ttT	p.L15F	TBL2_uc011kex.2_5'Flank|TBL2_uc010lbg.3_5'UTR|TBL2_uc003tyi.3_5'UTR|TBL2_uc011key.2_5'UTR	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	15								p.V14L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCAGCCCAAGCAACACCGACA	0.711													7	14					0	0	1	0	0	A	72992835	C	A	72992835	3	1	280	1	0	0	0	0	1	0	0	0	15639	709	25	4	1326	4	TBL2	7	72992835	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08	71476369	72992835	86145828	7	4822											
EPPK1	83481	broad.mit.edu	37	chr8	144941609	144941609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggggtccaggaggaacCcggtggcggcctgcgcctcc	17	14	0	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr8:144941609C>T	uc003zaa.1	-	0	5826	c.5813G>A	c.(5812-5814)gGg>gAg	p.G1938E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1938						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.G1938W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGAGGAACCCGGTGGCGGC	0.652													4	52					0	0	1	0	0	T	144941609	C	T	144941609	3	4	280	1	0	0	0	0	1	0	0	0	5190	623	22	2	1453	2	EPPK1	8	144941609	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		144941609	1422413	8	4823											
LMX1B	4010	broad.mit.edu	37	chr9	129456049	129456051	+	In_Frame_Del	DEL	CAG	CAG	-													agaagctggcgcggcggcacCagcagcagcaggagcagcag							TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr9:129456049_129456051delCAG	uc011maa.2	+	5	851_853	c.844_846delCAG	c.(844-846)cagdel	p.Q285del	LMX1B_uc004bqi.3_In_Frame_Del_p.Q285del|LMX1B_uc004bqj.3_In_Frame_Del_p.Q285del	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	262					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGGCGGCACCAGCAGCAGCAGG	0.754									Nail-Patella Syndrome				2	4	---	---	---	---						-	129456051	CAG	-	129456049	7	5	280	1	0	1	0	1	0	0	0	0	8862	595	21	0	866	0	LMX1B	9	129456049	In_Frame_Del	DEL	CAG	TCGA-EM-A3FP-01A-11D-A21A-08		129456049	11757382	9	4824											
SMC3	9126	broad.mit.edu	37	chr10	112335096	112335096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttgtatttccagcaAttcagtttgttctcagtgat	7	6	2	1			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr10:112335096A>G	uc001kze.3	+	3	259	c.133A>G	c.(133-135)Att>Gtt	p.I45V		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	45					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.A44V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTTCCAGCAATTCAGTTTGT	0.338													17	26					0	0	1	0	0	G	112335096	A	G	112335096	3	3	280	1	0	0	0	0	1	0	0	0	14784	101	4	3	147	3	SMC3	10	112335096	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08		112335096	23199651	10	4825											
OR52R1	119695	broad.mit.edu	37	chr11	4825377	4825377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcttaggttgagtggaGgaggagaggaccaggtcagt	16	5	2	2			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr11:4825377G>A	uc021qcs.1	-	0	234	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGAGTGGAGGAGGAGAGGA	0.488													3	56					0	0	1	0	0	A	4825377	G	A	4825377	2	1	280	1	0	0	0	0	0	0	0	1	11131	987	35	2		2	OR52R1	11	4825377	Silent	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		4825377	130181139	11	4826											
COL4A2	1284	broad.mit.edu	37	chr13	111099179	111099179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggccccctggactacCtgcctactcccctcaccctt	6	22	1	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr13:111099179C>T	uc001vqx.3	+	17	1335	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	349	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGACTACCTGCCTACTCC	0.483													5	162					0	0	1	0	0	T	111099179	C	T	111099179	3	4	280	1	0	0	0	0	1	0	0	0	3690	681	24	2	1112	2	COL4A2	13	111099179	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		111099179	4070699	12	4827											
YLPM1	56252	broad.mit.edu	37	chr14	75230940	75230940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactactagctccaccaccaCcgtccgccccccctggaaat	5	20	0	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr14:75230940C>T	uc001xqj.4	+	0	872	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCACCACCACCGTCCGCCCC	0.567													10	39					0	0	1	0	0	T	75230940	C	T	75230940	3	4	280	1	0	0	0	0	1	0	0	0	17483	507	18	2	750	2	YLPM1	14	75230940	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		75230940	32118600	13	4828											
TJP1	7082	broad.mit.edu	37	chr15	30012630	30012630	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggctgcgcttgtggtgAgtaaggaggatatgtttggt	17	3	0	1			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr15:30012630A>C	uc010azl.3	-	17	2668	c.2659T>G	c.(2659-2661)Tca>Gca	p.S887A	TJP1_uc001zcq.3_Missense_Mutation_p.S903A|TJP1_uc001zcr.3_Missense_Mutation_p.S899A|TJP1_uc001zcs.3_Missense_Mutation_p.S899A	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	899					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		p.S886P(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCTTGTGGTGAGTAAGGAGGA	0.483													28	78					0	0	1	0	0	C	30012630	A	C	30012630	3	2	280	1	0	0	0	0	1	0	0	0	15926	304	11	5	2591	5	TJP1	15	30012630	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08		30012630	72518762	14	4829											
ITGAM	3684	broad.mit.edu	37	chr16	31283280	31283280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataacgcagctgcttgggcGgacacacacggccacgggca	13	13	0	0			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr16:31283280G>A	uc002ebr.3	+	6	769	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	ITGAM_uc002ebq.3_Missense_Mutation_p.R224Q	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	224	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G223W(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGCTTGGGCGGACACACACG	0.512													4	142					0	0	1	0	0	A	31283280	G	A	31283280	3	1	280	1	0	0	0	0	1	0	0	0	7887	1116	39	1	697	1	ITGAM	16	31283280	Missense_Mutation	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		31283280	59071473	15	4830											
ZNF260	339324	broad.mit.edu	37	chr19	37005674	37005674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctccagtatgaattTtctcatgctcagtgagatat	7	7	3	2			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:37005674T>G	uc002oee.2	-	3	1389	c.467A>C	c.(466-468)aAa>aCa	p.K156T	ZNF260_uc010eey.2_Missense_Mutation_p.K156T|ZNF260_uc002oef.2_Missense_Mutation_p.K156T|ZNF260_uc002oed.2_Missense_Mutation_p.K156T|ZNF260_uc021uti.1_Missense_Mutation_p.K156T	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	156					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AGTATGAATTTTCTCATGCTC	0.398													38	87					0	0	1	0	0	G	37005674	T	G	37005674	3	3	280	1	0	0	0	0	1	0	0	0	17799	1841	64	5	775	5	ZNF260	19	37005674	Missense_Mutation	SNP	T	TCGA-EM-A3FP-01A-11D-A21A-08		37005674	22123309	16	4831											
GRIN2D	2906	broad.mit.edu	37	chr19	48946470	48946471	+	Frame_Shift_Ins	INS	-	-	C													ccggccgctccgcccccgtgINSccgcgccgcgccgcccccgt							TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:48946470_48946471insC	uc002pjc.4	+	12	3375_3376	c.3287_3288insC	c.(3286-3288)tgcfs	p.C1096fs	GRIN2D_uc010elx.3_Frame_Shift_Ins_p.C331fs|GRWD1_uc002pjd.2_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	1096						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ccgcccccgtgccgcgccgcgc	0.817													2	4	---	---	---	---						C	48946471	-	C	48946470	7	5	280	1	0	1	1	0	0	0	0	0	6782	1319	46	0	3333	0	GRIN2D	19	48946470	Frame_Shift_Ins	INS	-	TCGA-EM-A3FP-01A-11D-A21A-08	11940796	48946470	10182513	17	4832											
G6PD	2539	broad.mit.edu	37	chrX	153763439	153763439	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acggcctcgtagacggtcggGggcaaggccaggtagaagag	18	9	0	3			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chrX:153763439G>C	uc004flx.1	-	4	667	c.519C>G	c.(517-519)ccC>ccG	p.P173P	G6PD_uc004fly.1_Silent_p.P143P	NM_000402	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA.	143					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACGGTCGGGGGCAAGGCCA	0.627													4	170					0	0	1	0	0	C	153763439	G	C	153763439	2	2	280	1	0	0	0	0	0	0	0	1	6146	1219	43	4		4	G6PD	23	153763439	Silent	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		153763439	1507121	18	4833											
POTEE	445582	broad.mit.edu	37	chr2	131976198	131976198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccctgctgcagggggAgtggcaagagcaacgtgggc	17	11	0	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr2:131976198A>G	uc002tsn.2	+	0	275	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	75							ATP binding										CTGCAGGGGGAGTGGCAAGAG	0.587													4	223					0	0	1	0	0	G	131976198	A	G	131976198	3	3	281	1	0	0	0	0	1	0	0	0	12264	304	11	3	225	3	POTEE	2	131976198	Missense_Mutation	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		131976198	111223175	1	4834											
TANC1	85461	broad.mit.edu	37	chr2	160080795	160080795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcatgtggaccacagcgGgatgcggcccttggacagag	16	11	0	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr2:160080795G>A	uc002uag.3	+	22	4005	c.3731G>A	c.(3730-3732)gGg>gAg	p.G1244E	TANC1_uc010zcm.2_Missense_Mutation_p.G1236E|TANC1_uc010fom.1_Missense_Mutation_p.G1050E|TANC1_uc010fon.3_Missense_Mutation_p.G88E	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1244						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GACCACAGCGGGATGCGGCCC	0.592													3	101					0	0	1	0	0	A	160080795	G	A	160080795	3	1	281	1	0	0	0	0	1	0	0	0	15541	1232	43	2	3813	2	TANC1	2	160080795	Missense_Mutation	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08	28104597	160080795	83118578	2	4835											
ADAMTS2	9509	broad.mit.edu	37	chr5	178553069	178553069	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagagggcggcacagaAgccacggtgtaccatcttgt	13	11	1	2			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr5:178553069A>T	uc003mjw.3	-	17	2782	c.2680T>A	c.(2680-2682)Ttc>Atc	p.F894I		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	894	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGGCACAGAAGCCACGGTGT	0.652													6	217					0	0	1	0	0	T	178553069	A	T	178553069	3	4	281	1	0	0	0	0	1	0	0	0	265	72	3	5	975	5	ADAMTS2	5	178553069	Missense_Mutation	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		178553069	2362191	3	4836											
NT5E	4907	broad.mit.edu	37	chr6	86195042	86195042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttcctgtagtccaggccTatgcttttggcaaataccta	9	10	0	0			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr6:86195042T>C	uc003pko.4	+	3	1397	c.841T>C	c.(841-843)Tat>Cat	p.Y281H	NT5E_uc010kbr.3_Missense_Mutation_p.Y281H	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	281					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	AGTCCAGGCCTATGCTTTTGG	0.453													3	83					0	0	1	0	0	C	86195042	T	C	86195042	3	2	281	1	0	0	0	0	1	0	0	0	10693	1522	53	3	855	3	NT5E	6	86195042	Missense_Mutation	SNP	T	TCGA-EM-A3FQ-01A-11D-A21A-08		86195042	84920025	4	4837											
NPTX2	4885	broad.mit.edu	37	chr7	98254301	98254301	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcacaaactacctataCggcaagatcaagaagacgct	7	13	1	3			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr7:98254301C>G	uc003upl.2	+	2	888	c.711C>G	c.(709-711)taC>taG	p.Y237*		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	237	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													4	286					0	0	1	0	0	G	98254301	C	G	98254301	4	3	281	1	0	0	0	0	0	1	0	0	10603	547	19	4	721	4	NPTX2	7	98254301	Nonsense_Mutation	SNP	C	TCGA-EM-A3FQ-01A-11D-A21A-08		98254301	60884362	5	4838											
TMEM132B	114795	broad.mit.edu	37	chr12	126138656	126138656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactcaagggaagtcaccGgaccccaataatcctagtga	8	14	2	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr12:126138656G>A	uc001uhe.1	+	8	2645	c.2637G>A	c.(2635-2637)ccG>ccA	p.P879P	TMEM132B_uc001uhf.1_Silent_p.P391P	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	879						integral to membrane		p.P879L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAAGTCACCGGACCCCAATA	0.517													17	38					0	0	1	0	0	A	126138656	G	A	126138656	2	1	281	1	0	0	0	0	0	0	0	1	16043	1103	39	1		1	TMEM132B	12	126138656	Silent	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		126138656	7713239	6	4839											
MCF2L	23263	broad.mit.edu	37	chr13	113728878	113728878	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcgaggagaaatcaggcGtaaggcggggtcccggcggg	19	9	1	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr13:113728878G>A	uc001vsu.3	+	10	1287	c.1287_splice	c.e10+1	p.G429_splice	MCF2L_uc001vsq.3_Splice_Site_p.G429_splice|MCF2L_uc010tjr.2_Splice_Site_p.G372_splice|MCF2L_uc001vsr.3_Splice_Site_p.G376_splice|MCF2L_uc001vss.4_Splice_Site_p.G370_splice|MCF2L_uc010tjs.2_Splice_Site_p.G370_splice|MCF2L_uc001vst.1_Splice_Site_p.G334_splice	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	402					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAAATCAGGCGTAAGGCGGGG	0.642													4	108					0	0	1	0	0	A	113728878	G	A	113728878	5	1	281	1	0	0	0	0	0	0	1	0	9379	1159	40	1	1421	1	MCF2L	13	113728878	Splice_Site	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		113728878	1441000	7	4840											
FSCB	84075	broad.mit.edu	37	chr14	44974999	44974999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccctcagctggtaaagGctgtacttcaatgggagcct	13	11	2	0			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr14:44974999G>A	uc001wvn.3	-	0	1501	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	398	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCTGGTAAAGGCTGTACTTCA	0.507													9	75					0	0	1	0	0	A	44974999	G	A	44974999	3	1	281	1	0	0	0	0	1	0	0	0	6066	1203	42	2	1289	2	FSCB	14	44974999	Missense_Mutation	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		44974999	62374541	8	4841											
SALL1	6299	broad.mit.edu	37	chr16	51173859	51173859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactctgagcgggggcatAgcacgatggacactgtagtg	16	8	1	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr16:51173859A>G	uc021tif.1	-	1	2305	c.1983T>C	c.(1981-1983)gcT>gcC	p.A661A	SALL1_uc021tid.1_Silent_p.A661A|SALL1_uc021tie.1_Silent_p.A758A|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	758					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCGGGGGCATAGCACGATGGA	0.552													3	93					0	0	1	0	0	G	51173859	A	G	51173859	2	3	281	1	0	0	0	0	0	0	0	1	13810	407	15	3		3	SALL1	16	51173859	Silent	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		51173859	39180894	9	4842											
PFAS	5198	broad.mit.edu	37	chr17	8158830	8158830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacccctagtttgcccaccCcccgtcagctgaggtggaag	11	16	1	1			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr17:8158830C>A	uc002gkr.3	+	4	536	c.395C>A	c.(394-396)cCc>cAc	p.P132H	PFAS_uc010vuv.2_Intron	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	132					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTGCCCACCCCCCGTCAGCT	0.567													4	139					0	0	1	0	0	A	8158830	C	A	8158830	3	1	281	1	0	0	0	0	1	0	0	0	11754	623	22	4	409	4	PFAS	17	8158830	Missense_Mutation	SNP	C	TCGA-EM-A3FQ-01A-11D-A21A-08		8158830	73036380	10	4843											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17914071	17914071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccagcgcagccctgggcGtccccagccttgctcctgag	11	18	0	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:17914071G>A	uc001ban.3	+	2	313	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V52I|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V52I|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V52I|ARHGEF10L_uc010ocr.1_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	52					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCCCTGGGCGTCCCCAGCCT	0.597													5	304					0	0	1	0	0	A	17914071	G	A	17914071	3	1	282	1	0	0	0	0	1	0	0	0	895	1145	40	1	160	1	ARHGEF10L	1	17914071	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		17914071	231336550	1	4844											
XPR1	9213	broad.mit.edu	37	chr1	180849246	180849246	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttcttccgcctggagaatGaacatctgaataactgtggt	9	9	2	3			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:180849246G>A	uc001goi.3	+	13	2035	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	XPR1_uc009wxn.3_Missense_Mutation_p.E550K	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	615	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTGGAGAATGAACATCTGAA	0.458													45	51					0	0	1	0	0	A	180849246	G	A	180849246	3	1	282	1	0	0	0	0	1	0	0	0	17448	1291	45	2	1897	2	XPR1	1	180849246	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	162935175	180849246	68401375	2	4845											
PLXNA2	5362	broad.mit.edu	37	chr1	208234068	208234068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctgggaggggcgtgcAgggcaccccagccacctgca	14	16	0	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:208234068A>G	uc001hgz.3	-	12	3459	c.2701T>C	c.(2701-2703)Tgc>Cgc	p.C901R		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	901	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGGCGTGCAGGGCACCCCA	0.637													3	52					0	0	1	0	0	G	208234068	A	G	208234068	3	3	282	1	0	0	0	0	1	0	0	0	12120	188	7	3	3063	3	PLXNA2	1	208234068	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	27384822	208234068	41016553	3	4846											
ASAP2	8853	broad.mit.edu	37	chr2	9463306	9463306	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctccatgggatgattcggaCtgaaataagcggagcggaaa	14	7	0	2			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:9463306C>G	uc002qzh.2	+	5	867	c.527C>G	c.(526-528)aCt>aGt	p.T176S	ASAP2_uc002qzi.2_Missense_Mutation_p.T176S	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	176					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.R175L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGATTCGGACTGAAATAAGC	0.498													88	137					0	0	1	0	0	G	9463306	C	G	9463306	3	3	282	1	0	0	0	0	1	0	0	0	1011	565	20	4	549	4	ASAP2	2	9463306	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		9463306	233736067	4	4847											
LCT	3938	broad.mit.edu	37	chr2	136574959	136574959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgggagggtgctggccGgtgccatagcctgcgtagct	17	11	0	0	rs142388926		TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:136574959G>A	uc002tuu.1	-	5	1670	c.1659C>T	c.(1657-1659)acC>acT	p.T553T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	553	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTGCTGGCCGGTGCCATAGC	0.572													3	94					0	0	1	0	0	A	136574959	G	A	136574959	2	1	282	1	0	0	0	0	0	0	0	1	8693	1103	39	1		1	LCT	2	136574959	Silent	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	127111653	136574959	106624414	5	4848											
INPP5D	3635	broad.mit.edu	37	chr2	233990613	233990613	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattgttccagcgactgcaaAgcatggacaccagtgggtga	12	10	0	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:233990613A>T	uc010zmo.2	+	3	661	c.508A>T	c.(508-510)Agc>Tgc	p.S170C	INPP5D_uc010zmp.2_Missense_Mutation_p.S169C	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	170					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGACTGCAAAGCATGGACAC	0.602													7	32					0	0	1	0	0	T	233990613	A	T	233990613	3	4	282	1	0	0	0	0	1	0	0	0	7756	72	3	5	522	5	INPP5D	2	233990613	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	97415654	233990613	9208760	6	4849											
PCDHAC2	56134	broad.mit.edu	37	chr5	140180926	140180926	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcaccttcgtgggccgcatCgcgcaggacctggggctgga	17	13	0	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr5:140180926C>A	uc003lhf.2	+	0	144	c.144C>A	c.(142-144)atC>atA	p.I48I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.I48I	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCGCAGGACC	0.647													4	142					0	0	1	0	0	A	140180926	C	A	140180926	2	1	282	1	0	0	0	0	0	0	0	1	11533	874	31	4		4	PCDHAC2	5	140180926	Silent	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		140180926	40734334	7	4850											
ZNF300	91975	broad.mit.edu	37	chr5	150278070	150278070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggtcaagttgctgccacTcctcctgggtgaaatccaca	10	12	1	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr5:150278070T>C	uc021yfx.1	-	4	538	c.110A>G	c.(109-111)gAg>gGg	p.E37G	ZNF300_uc021yfy.1_Missense_Mutation_p.E21G|ZNF300_uc021yfz.1_5'UTR	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCTGCCACTCCTCCTGGGT	0.463													42	224					0	0	1	0	0	C	150278070	T	C	150278070	3	2	282	1	0	0	0	0	1	0	0	0	17828	1551	54	3	1764	3	ZNF300	5	150278070	Missense_Mutation	SNP	T	TCGA-EM-A3FR-01A-11D-A21Z-08	10097144	150278070	30637190	8	4851											
PNLDC1	154197	broad.mit.edu	37	chr6	160225058	160225058	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgtttgggattttggactcaGaattctccttccaggcttcc	9	11	2	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr6:160225058G>C	uc003qsy.1	+	4	349	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	PNLDC1_uc003qsx.1_Missense_Mutation_p.E93Q	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	93						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTGGACTCAGAATTCTCCTT	0.398													100	184					0	0	1	0	0	C	160225058	G	C	160225058	3	2	282	1	0	0	0	0	1	0	0	0	12148	943	33	4	291	4	PNLDC1	6	160225058	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		160225058	10890009	9	4852											
CFTR	1080	broad.mit.edu	37	chr7	117234990	117234990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcttttattcaggagtgcTtttttgatgatatggagagc	10	4	2	3			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr7:117234990T>C	uc003vjd.3	+	14	2629	c.2497T>C	c.(2497-2499)Ttt>Ctt	p.F833L	CFTR_uc011knq.2_Missense_Mutation_p.F239L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	833				F -> L (in Ref. 1; AAA35680).	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCAGGAGTGCTTTTTTGATGA	0.323									Cystic Fibrosis				3	107					0	0	1	0	0	C	117234990	T	C	117234990	3	2	282	1	0	0	0	0	1	0	0	0	3294	1609	56	3	2555	3	CFTR	7	117234990	Missense_Mutation	SNP	T	TCGA-EM-A3FR-01A-11D-A21Z-08		117234990	41903673	10	4853											
SNAI2	6591	broad.mit.edu	37	chr8	49832563	49832563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaatatgcatcttcagggCgcccaggctcacatattcct	8	14	3	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr8:49832563C>T	uc003xqp.3	-	1	692	c.517G>A	c.(517-519)Gcc>Acc	p.A173T		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	173					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATCTTCAGGGCGCCCAGGCTC	0.483													34	52					0	0	1	0	0	T	49832563	C	T	49832563	3	4	282	1	0	0	0	0	1	0	0	0	14827	768	27	1	297	1	SNAI2	8	49832563	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		49832563	96531459	11	4854											
TG	7038	broad.mit.edu	37	chr8	133899146	133899149	+	Frame_Shift_Del	DEL	TGAA	TGAA	-													acttggtcttgcaagcttctTgaatggagggagacaagaag							TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr8:133899146_133899149delTGAA	uc003ytw.3	+	8	1570_1573	c.1529_1532delTGAA	c.(1528-1533)ttgaatfs	p.L510fs		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	510					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAAGCTTCTTGAATGGAGGGAGA	0.451													35	54	---	---	---	---						-	133899149	TGAA	-	133899146	7	5	282	1	0	1	0	1	0	0	0	0	15810	1821	63	0	1563	0	TG	8	133899146	Frame_Shift_Del	DEL	TGAA	TCGA-EM-A3FR-01A-11D-A21Z-08	84066583	133899146	12464876	12	4855											
PTPRD	5789	broad.mit.edu	37	chr9	8733812	8733814	+	In_Frame_Del	DEL	AGC	AGC	-													tgcggaggaagaaagtgaggAgcagcagcagcagcctggct							TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:8733812_8733814delAGC	uc003zkk.3	-	11	773_775	c.30_32delGCT	c.(28-33)ctgctc>ctc	p.10_11LL>L	PTPRD_uc003zkp.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkq.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkr.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zks.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc022bdj.1_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkt.1_In_Frame_Del_p.10_11LL>L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	10					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAAAGTGAGGAGCAGCAGCAGCA	0.591										TSP Lung(15;0.13)			2	4	---	---	---	---						-	8733814	AGC	-	8733812	7	5	282	1	0	1	0	1	0	0	0	0	12799	304	11	0	5914	0	PTPRD	9	8733812	In_Frame_Del	DEL	AGC	TCGA-EM-A3FR-01A-11D-A21Z-08		8733812	132479619	13	4856											
GARNL3	84253	broad.mit.edu	37	chr9	130106562	130106562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttaccagagtcacccAagtcagcgcggaagaaagag	11	10	3	3			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:130106562A>G	uc011mae.2	+	14	1701	c.1300A>G	c.(1300-1302)Aag>Gag	p.K434E	GARNL3_uc011mad.2_Missense_Mutation_p.K412E|GARNL3_uc004bqt.1_Missense_Mutation_p.K215E	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	434					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.Q434K(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGAGTCACCCAAGTCAGCGCG	0.423													17	280					0	0	1	0	0	G	130106562	A	G	130106562	3	3	282	1	0	0	0	0	1	0	0	0	6241	131	5	3	1358	3	GARNL3	9	130106562	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	121372750	130106562	11106869	14	4857											
LRSAM1	90678	broad.mit.edu	37	chr9	130253549	130253549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagctggagttaaagaggaAgtccctggacacagagtcac	12	9	1	2			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:130253549A>G	uc004brb.2	+	19	1850	c.1478A>G	c.(1477-1479)aAg>aGg	p.K493R	LRSAM1_uc010mxk.2_Intron|LRSAM1_uc004brc.2_Missense_Mutation_p.K493R|LRSAM1_uc004brd.2_Missense_Mutation_p.K493R|LRSAM1_uc004bre.2_Missense_Mutation_p.K73R	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	493					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTAAAGAGGAAGTCCCTGGAC	0.507													4	75					0	0	1	0	0	G	130253549	A	G	130253549	3	3	282	1	0	0	0	0	1	0	0	0	9043	72	3	3	1548	3	LRSAM1	9	130253549	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	146987	130253549	10959882	15	4858											
GAD2	2572	broad.mit.edu	37	chr10	26508106	26508106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccattatcctaatgagCttctccaagaatataattgg	5	8	1	2			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr10:26508106C>T	uc001isp.2	+	3	924	c.421C>T	c.(421-423)Ctt>Ttt	p.L141F	GAD2_uc009xkr.3_Missense_Mutation_p.L141F|GAD2_uc001isq.2_Missense_Mutation_p.L141F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	141					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCCTAATGAGCTTCTCCAAGA	0.343													20	174					0	0	1	0	0	T	26508106	C	T	26508106	3	4	282	1	0	0	0	0	1	0	0	0	6180	797	28	2	435	2	GAD2	10	26508106	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		26508106	109026641	16	4859											
TTC36	143941	broad.mit.edu	37	chr11	118398234	118398234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactccaaatgatcaggcaGtgctgcaggccatcttcaac	10	12	3	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr11:118398234G>A	uc001ptg.1	+	0	25	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	TTC36_uc010ryb.1_Non-coding_Transcript|TTC36_uc010ryc.1_5'UTR	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	Homo sapiens tetratricopeptide repeat domain 36 (TTC36), mRNA.	9							binding			lung(2)	2						TGATCAGGCAGTGCTGCAGGC	0.537													4	285					0	0	1	0	0	A	118398234	G	A	118398234	3	1	282	1	0	0	0	0	1	0	0	0	16701	1029	36	2	27	2	TTC36	11	118398234	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		118398234	16608282	17	4860											
FMNL3	91010	broad.mit.edu	37	chr12	50050234	50050234	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatttcgtgacctcctcGcaccaaacacacagctgcca	7	15	0	2			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr12:50050234G>A	uc001ruv.1	-	8	1072	c.838C>T	c.(838-840)Cga>Tga	p.R280*	FMNL3_uc001ruw.1_Nonsense_Mutation_p.R229*|FMNL3_uc001ruu.1_Nonsense_Mutation_p.R130*	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	280	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGACCTCCTCGCACCAAACAC	0.507													3	52					0	0	1	0	0	A	50050234	G	A	50050234	4	1	282	1	0	0	0	0	0	1	0	0	5953	1095	38	1	2317	1	FMNL3	12	50050234	Nonsense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		50050234	83801661	18	4861											
EIF2AK4	440275	broad.mit.edu	37	chr15	40268678	40268678	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccatcaacccggccagcCggcagttccgcaggatcaag	10	17	2	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr15:40268678C>A	uc001zkm.1	+	11	1932	c.1882C>A	c.(1882-1884)Cgg>Agg	p.R628R	EIF2AK4_uc010bbj.1_Silent_p.R357R	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	628	Protein kinase 2.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCCGGCCAGCCGGCAGTTCCG	0.632													3	79					0	0	1	0	0	A	40268678	C	A	40268678	2	1	282	1	0	0	0	0	0	0	0	1	4999	643	23	4		4	EIF2AK4	15	40268678	Silent	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		40268678	62262714	19	4862											
FMNL1	752	broad.mit.edu	37	chr17	43311541	43311541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtccaccctcctccgtGcccaaaagccgccacctgac	8	19	0	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:43311541G>A	uc002iin.3	+	5	788	c.588G>A	c.(586-588)gtG>gtA	p.V196V	FMNL1_uc002iio.3_Silent_p.V141V	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	196	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCTCCTCCGTGCCCAAAAGCC	0.572													44	66					0	0	1	0	0	A	43311541	G	A	43311541	2	1	282	1	0	0	0	0	0	0	0	1	5951	1306	46	2		2	FMNL1	17	43311541	Silent	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		43311541	37883669	20	4863											
SPOP	8405	broad.mit.edu	37	chr17	47696667	47696667	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccgaacttcactctttGgacagctgaccagtaacagg	9	12	2	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:47696667G>C	uc010dbk.3	-	4	913	c.281C>G	c.(280-282)cCa>cGa	p.P94R	SPOP_uc002ipg.3_Missense_Mutation_p.P94R|SPOP_uc002ipb.3_Missense_Mutation_p.P94R|SPOP_uc002ipc.3_Missense_Mutation_p.P94R|SPOP_uc002ipd.3_Missense_Mutation_p.P94R|SPOP_uc002ipe.3_Missense_Mutation_p.P94R|SPOP_uc002ipf.3_Missense_Mutation_p.P94R	NM_003563	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 2, mRNA.	94	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTCACTCTTTGGACAGCTGAC	0.413										Prostate(2;0.17)			45	89					0	0	1	0	0	C	47696667	G	C	47696667	3	2	282	1	0	0	0	0	1	0	0	0	15083	1348	47	4	871	4	SPOP	17	47696667	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	4385126	47696667	33498543	21	4864											
FASN	2194	broad.mit.edu	37	chr17	80043235	80043235	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaggacttcttcaggcccAccaggcgcagcgacaccctg	11	15	2	1			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:80043235A>T	uc002kdu.3	-	23	4283	c.4166T>A	c.(4165-4167)gTg>gAg	p.V1389E	FASN_uc002kdw.1_Missense_Mutation_p.V605E	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1389					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTTCAGGCCCACCAGGCGCAG	0.701													6	15					0	0	1	0	0	T	80043235	A	T	80043235	3	4	282	1	0	0	0	0	1	0	0	0	5683	159	6	5	3449	5	FASN	17	80043235	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	32346568	80043235	1151975	22	4865											
MUC16	94025	broad.mit.edu	37	chr19	9074980	9074980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggaagaggaagagctggTttcttccacagagggagggc	17	7	1	3			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr19:9074980T>C	uc002mkp.3	-	2	12670	c.12466A>G	c.(12466-12468)Acc>Gcc	p.T4156A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4158	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T4156T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGCTGGTTTCTTCCACA	0.493													20	104					0	0	1	0	0	C	9074980	T	C	9074980	3	2	282	1	0	0	0	0	1	0	0	0	9973	1725	60	3	31385	3	MUC16	19	9074980	Missense_Mutation	SNP	T	TCGA-EM-A3FR-01A-11D-A21Z-08		9074980	50054003	23	4866											
SLC9A6	10479	broad.mit.edu	37	chrX	135106617	135106617	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatttggtggtggcaccactGcaatgctgtcatgcttgcat	11	9	1	0			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chrX:135106617G>C	uc004ezk.3	+	11	1667	c.1591G>C	c.(1591-1593)Gca>Cca	p.A531P	SLC9A6_uc011mvx.2_Missense_Mutation_p.A479P|SLC9A6_uc004ezj.3_Missense_Mutation_p.A499P	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	499					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGGCACCACTGCAATGCTGTC	0.393													58	151					0	0	1	0	0	C	135106617	G	C	135106617	3	2	282	1	0	0	0	0	1	0	0	0	14718	1319	46	4	1637	4	SLC9A6	23	135106617	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		135106617	20163943	24	4867											
OTUD7B	56957	broad.mit.edu	37	chr1	149943019	149943019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtcatcctgccgctggagGatgggtcggggagggcgagt	19	8	1	0			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:149943019G>A	uc001eto.3	-	0	161	c.143C>T	c.(142-144)tCc>tTc	p.S48F	OTUD7B_uc001etn.3_Silent_p.I82I			Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	0					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCCGCTGGAGGATGGGTCGGG	0.532													8	141					0	0	1	0	0	A	149943019	G	A	149943019	3	1	283	1	0	0	0	0	1	0	0	0	11319	1164	41	2	2325	2	OTUD7B	1	149943019	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		149943019	99307602	1	4868											
C1orf56	54964	broad.mit.edu	37	chr1	151020356	151020356	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggcgcgctgctgtgggtCctgctgctgaatctgggtcc	16	13	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:151020356C>T	uc001ewn.3	+	0	98	c.33C>T	c.(31-33)gtC>gtT	p.V11V	C1orf56_uc021oyi.1_Silent_p.V11V	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.	11						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGTGGGTCCTGCTGCTGA	0.697													9	31					0	0	1	0	0	T	151020356	C	T	151020356	2	4	283	1	0	0	0	0	0	0	0	1	2048	842	30	2		2	C1orf56	1	151020356	Silent	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	1077337	151020356	98230265	2	4869											
SOAT1	6646	broad.mit.edu	37	chr1	179310209	179310209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttatgcttttggcaaatttCctaccgttgtttggacctgg	9	9	0	0			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:179310209C>T	uc001gml.3	+	6	775	c.544C>T	c.(544-546)Cct>Tct	p.P182S	SOAT1_uc010pni.2_Missense_Mutation_p.P117S|SOAT1_uc001gmm.3_Missense_Mutation_p.P124S|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.P117S	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGGCAAATTTCCTACCGTTGT	0.418													43	48					0	0	1	0	0	T	179310209	C	T	179310209	3	4	283	1	0	0	0	0	1	0	0	0	14910	855	30	2	566	2	SOAT1	1	179310209	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	28289853	179310209	69940412	3	4870											
SMG7	9887	broad.mit.edu	37	chr1	183520210	183520210	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttggcattgattatctctCagcaacgtcatcctctgaga	8	10	4	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:183520210C>T	uc001gqf.3	+	21	3447	c.3197C>T	c.(3196-3198)tCa>tTa	p.S1066L	SMG7_uc001gqh.3_Missense_Mutation_p.S1016L|SMG7_uc001gqg.3_Missense_Mutation_p.S1062L|SMG7_uc010poc.2_Missense_Mutation_p.S1070L	NM_201569	NP_963863	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 4, mRNA.	1062					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GATTATCTCTCAGCAACGTCA	0.517													16	56					0	0	1	0	0	T	183520210	C	T	183520210	3	4	283	1	0	0	0	0	1	0	0	0	14798	838	29	2	3421	2	SMG7	1	183520210	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	4210001	183520210	65730411	4	4871											
DSTYK	25778	broad.mit.edu	37	chr1	205138578	205138578	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaacacctggtgagaaAatgtgctcaagtgtctcagc	10	9	3	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:205138578A>T	uc001hbw.3	-	2	1101	c.1037T>A	c.(1036-1038)tTt>tAt	p.F346Y	DSTYK_uc001hbx.3_Missense_Mutation_p.F346Y|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	346						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M346T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTGGTGAGAAAATGTGCTCAA	0.522													5	101					0	0	1	0	0	T	205138578	A	T	205138578	3	4	283	1	0	0	0	0	1	0	0	0	4785	14	1	5	1796	5	DSTYK	1	205138578	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	21618368	205138578	44112043	5	4872											
OBSCN	84033	broad.mit.edu	37	chr1	228465534	228465534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagccgaaaatgcagaAtcgcgagcccagctccgagt	11	11	0	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:228465534A>G	uc009xez.1	+	24	6878	c.6834A>G	c.(6832-6834)gaA>gaG	p.E2278E	OBSCN_uc001hsn.3_Silent_p.E2278E|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2278					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAAATGCAGAATCGCGAGCCC	0.617													26	195					0	0	1	0	0	G	228465534	A	G	228465534	2	3	283	1	0	0	0	0	0	0	0	1	10812	98	4	3		3	OBSCN	1	228465534	Silent	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	23326956	228465534	20785087	6	4873											
GULP1	51454	broad.mit.edu	37	chr2	189452645	189452645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcagcagatttccctcCagatattcaatcaaaattag	7	9	2	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:189452645C>T	uc010fru.3	+	10	1481	c.812C>T	c.(811-813)cCa>cTa	p.P271L	GULP1_uc002uqd.3_Missense_Mutation_p.P271L|GULP1_uc010zfw.2_Missense_Mutation_p.P168L|GULP1_uc002uqg.3_Missense_Mutation_p.P271L|GULP1_uc002uqf.3_Missense_Mutation_p.P271L|GULP1_uc002uqh.1_Missense_Mutation_p.P91L	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	Homo sapiens GULP, engulfment adaptor PTB domain containing 1 (GULP1), transcript variant 1, mRNA.	271					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			GATTTCCCTCCAGATATTCAA	0.358													16	33					0	0	1	0	0	T	189452645	C	T	189452645	3	4	283	1	0	0	0	0	1	0	0	0	6901	594	21	2	846	2	GULP1	2	189452645	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		189452645	53746728	7	4874											
CPS1	1373	broad.mit.edu	37	chr2	211457603	211457604	+	Splice_Site	DNP	GG	GG	AA													cctgtttcttattcctttagGggattatgcatgagagcaaa							TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:211457603_211457604GG>AA	uc010fur.3	+	12	1187	c.1105_splice	c.e12-1	p.G369_splice	CPS1_uc002vee.4_Splice_Site_p.G363_splice|CPS1_uc010fus.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	363	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTCCTTTAGGGGATTATGCAT	0.421													26	58					0	0	1	0	0	AA	211457604	GG	AA	211457603	5	1	283	1	0	0	0	0	0	0	1	0	3823	1246	43	2	1151	2	CPS1	2	211457603	Splice_Site	DNP	GG	TCGA-EM-A3O3-01A-11D-A21Z-08	22004958	211457603	31741770	8	4875											
CASP6	839	broad.mit.edu	37	chr4	110617580	110617580	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctaccctcatgaattttgAgcagtagttcttctgcttta	6	10	3	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr4:110617580A>T	uc003hzn.1	-	3	371	c.293T>A	c.(292-294)cTc>cAc	p.L98H	CASP6_uc003hzo.1_Intron	NM_001226	NP_001217	P55212	CASP6_HUMAN	Homo sapiens caspase 6, apoptosis-related cysteine peptidase (CASP6), transcript variant alpha, mRNA.	98					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	p.L98F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		ATGAATTTTGAGCAGTAGTTC	0.328													13	15					0	0	1	0	0	T	110617580	A	T	110617580	3	4	283	1	0	0	0	0	1	0	0	0	2675	304	11	5	604	5	CASP6	4	110617580	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08		110617580	80536696	9	4876											
BDP1	55814	broad.mit.edu	37	chr5	70800541	70800541	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgattcttttcaaaatgtgCagccagatgagcccaaggtt	9	8	2	3			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:70800541C>T	uc003kbp.1	+	15	2598	c.2335C>T	c.(2335-2337)Cag>Tag	p.Q779*	BDP1_uc003kbn.1_Nonsense_Mutation_p.Q779*|BDP1_uc003kbo.3_Nonsense_Mutation_p.Q779*	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	779					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAAAATGTGCAGCCAGATGA	0.333													11	27					0	0	1	0	0	T	70800541	C	T	70800541	4	4	283	1	0	0	0	0	0	1	0	0	1395	711	25	2	2397	2	BDP1	5	70800541	Nonsense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		70800541	110114719	10	4877											
HK3	3101	broad.mit.edu	37	chr5	176311066	176311066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtgatggcttcccgcaAcagactcacgacatcttggc	11	13	2	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:176311066A>G	uc003mfa.3	-	13	2019	c.1927T>C	c.(1927-1929)Ttg>Ctg	p.L643L	HK3_uc003mez.3_Silent_p.L199L	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	643	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCCCGCAACAGACTCACG	0.577													47	81					0	0	1	0	0	G	176311066	A	G	176311066	2	3	283	1	0	0	0	0	0	0	0	1	7192	40	2	3		3	HK3	5	176311066	Silent	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	105510525	176311066	4604194	11	4878											
PKHD1	5314	broad.mit.edu	37	chr6	51921515	51921515	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcgttcaaatccaagccgGagaaggatgttagaccaaag	10	10	1	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr6:51921515G>A	uc003pah.1	-	17	1950	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	PKHD1_uc003pai.3_Silent_p.L558L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	558					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCCAAGCCGGAGAAGGATGT	0.393													24	54					0	0	1	0	0	A	51921515	G	A	51921515	2	1	283	1	0	0	0	0	0	0	0	1	11971	1161	41	2		2	PKHD1	6	51921515	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		51921515	119193552	12	4879											
ITGB8	3696	broad.mit.edu	37	chr7	20403260	20403260	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctccttcattgcagAagacaatagatgtgcatctt	7	8	3	3			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:20403260A>C	uc003suu.3	+	2	833	c.128_splice	c.e2-1	p.E43_splice	ITGB8_uc011jyh.2_Splice_Site|ITGB8_uc003sut.3_Splice_Site_p.E43_splice	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	43					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTCATTGCAGAAGACAATAGA	0.368													8	15					0	0	1	0	0	C	20403260	A	C	20403260	5	2	283	1	0	0	0	0	0	0	1	0	7901	260	9	5	134	5	ITGB8	7	20403260	Splice_Site	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08		20403260	138735403	13	4880											
C7orf57	136288	broad.mit.edu	37	chr7	48086188	48086188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttggcaaagagaggctgAggaacttgaaaaggagaaaa	14	3	0	4			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:48086188A>C	uc003toh.4	+	4	694	c.482A>C	c.(481-483)gAg>gCg	p.E161A	C7orf57_uc003toi.4_Missense_Mutation_p.E35A	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	161										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGAGAGGCTGAGGAACTTGAA	0.463													5	12					0	0	1	0	0	C	48086188	A	C	48086188	3	2	283	1	0	0	0	0	1	0	0	0	2404	304	11	5	496	5	C7orf57	7	48086188	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	27682928	48086188	111052475	14	4881											
UBN2	254048	broad.mit.edu	37	chr7	138968642	138968642	+	Frame_Shift_Del	DEL	C	C	-													aatggttctcaagggtcccaCcccctggtttctaggacagt							TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:138968642delC	uc011kqr.2	+	14	2991	c.2991delC	c.(2989-2991)cacfs	p.H997fs		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	997	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGGGTCCCACCCCCTGGTTT	0.493													22	45	---	---	---	---						-	138968642	C	-	138968642	7	5	283	1	0	1	0	1	0	0	0	0	16890	506	18	0	3049	0	UBN2	7	138968642	Frame_Shift_Del	DEL	C	TCGA-EM-A3O3-01A-11D-A21Z-08	90882454	138968642	20170021	15	4882											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				17	32					0	0	1	0	0	T	140453136	A	T	140453136	3	4	283	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	1484494	140453136	18685527	16	4883											
ZMIZ1	57178	broad.mit.edu	37	chr10	81060655	81060655	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgaagcacgtgtgccagCcgggccgcaacaccatccag	11	16	0	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:81060655C>G	uc001kaf.2	+	16	2547	c.1975C>G	c.(1975-1977)Ccg>Gcg	p.P659A	ZMIZ1_uc001kag.2_Missense_Mutation_p.P535A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	659					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CGTGTGCCAGCCGGGCCGCAA	0.667													36	73					0	0	1	0	0	G	81060655	C	G	81060655	3	3	283	1	0	0	0	0	1	0	0	0	17693	739	26	4	2025	4	ZMIZ1	10	81060655	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		81060655	54474092	17	4884											
ZFYVE27	118813	broad.mit.edu	37	chr10	99498333	99498333	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcctaccaagtccccAgcgtttgaccttttcaactt	4	15	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:99498333A>G	uc021pwq.1	+	0	100	c.99A>G	c.(97-99)ccA>ccG	p.P33P	ZFYVE27_uc001kok.2_Non-coding_Transcript|ZFYVE27_uc010qpc.2_Non-coding_Transcript|ZFYVE27_uc001kol.2_Silent_p.P33P|ZFYVE27_uc001kom.2_Silent_p.P33P|ZFYVE27_uc010qpb.2_Intron|ZFYVE27_uc010qpd.2_Silent_p.P33P|ZFYVE27_uc001koq.3_Silent_p.P33P|ZFYVE27_uc010qpa.2_Silent_p.P33P	NM_001002261	NP_001002261	Q5T4F4	ZFY27_HUMAN	Homo sapiens zinc finger, FYVE domain containing 27 (ZFYVE27), transcript variant 1, mRNA.	33					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CCAAGTCCCCAGCGTTTGACC	0.562													28	60					0	0	1	0	0	G	99498333	A	G	99498333	2	3	283	1	0	0	0	0	0	0	0	1	17666	175	7	3		3	ZFYVE27	10	99498333	Silent	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	18437678	99498333	36036414	18	4885											
PDCD4	27250	broad.mit.edu	37	chr10	112649373	112649373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagttacaaaggaactgtagAttgtgtgcaggctaggtaag	13	4	0	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:112649373A>G	uc001kzh.3	+	6	1146	c.860A>G	c.(859-861)gAt>gGt	p.D287G	PDCD4_uc001kzg.3_Missense_Mutation_p.D276G|PDCD4_uc010qre.2_Missense_Mutation_p.D273G	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	287					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGAACTGTAGATTGTGTGCAG	0.338													12	57					0	0	1	0	0	G	112649373	A	G	112649373	3	3	283	1	0	0	0	0	1	0	0	0	11621	333	12	3	896	3	PDCD4	10	112649373	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	13151040	112649373	22885374	19	4886											
MUC5B	727897	broad.mit.edu	37	chr11	1269180	1269180	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaactccggggacgacCtggatcctcacaaagctgac	9	15	2	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:1269180C>A	uc001lta.3	+	30	11129	c.11070C>A	c.(11068-11070)acC>acA	p.T3690T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3690	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.622													123	245					0	0	1	0	0	A	1269180	C	A	1269180	2	1	283	1	0	0	0	0	0	0	0	1	9979	668	24	4		4	MUC5B	11	1269180	Silent	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		1269180	133737336	20	4887											
OR5D13	390142	broad.mit.edu	37	chr11	55541409	55541409	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatactcacatattttcttCttgacttatcgttttgtgaa	5	7	3	3			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:55541409C>A	uc010ril.2	+	0	496	c.496C>A	c.(496-498)Ctt>Att	p.L166I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATATTTTCTTCTTGACTTATC	0.423													24	65					0	0	1	0	0	A	55541409	C	A	55541409	3	1	283	1	0	0	0	0	1	0	0	0	11154	913	32	4	498	4	OR5D13	11	55541409	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	54272229	55541409	79465107	21	4888											
OR10G4	390264	broad.mit.edu	37	chr11	123886643	123886643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtcatgtcctatgatcGctacttggccatcagttacc	7	13	2	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:123886643G>A	uc010sac.2	+	0	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCTATGATCGCTACTTGGCC	0.572													33	118					0	0	1	0	0	A	123886643	G	A	123886643	3	1	283	1	0	0	0	0	1	0	0	0	10901	1087	38	1	364	1	OR10G4	11	123886643	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	68345234	123886643	11119873	22	4889											
STAB2	55576	broad.mit.edu	37	chr12	104153016	104153016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgaggctgggaagcaagCtgctcatcactgccagccag	12	12	2	0			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr12:104153016C>A	uc001tjw.3	+	64	7399	c.7213C>A	c.(7213-7215)Ctg>Atg	p.L2405M	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2405	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGGAAGCAAGCTGCTCATCAC	0.547													23	49					0	0	1	0	0	A	104153016	C	A	104153016	3	1	283	1	0	0	0	0	1	0	0	0	15237	796	28	4	7471	4	STAB2	12	104153016	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		104153016	29698879	23	4890											
FAM101B	359845	broad.mit.edu	37	chr17	293075	293075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtggtggtgtagacggcCttggggtacttggggtacac	19	6	0	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:293075C>T	uc002frj.3	-	1	316	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	Homo sapiens family with sequence similarity 101, member B (FAM101B), mRNA.	175										breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		TGTAGACGGCCTTGGGGTACT	0.642													16	36					0	0	1	0	0	T	293075	C	T	293075	2	4	283	1	0	0	0	0	0	0	0	1	5381	680	24	2		2	FAM101B	17	293075	Silent	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		293075	80902135	24	4891											
SGSM2	9905	broad.mit.edu	37	chr17	2279468	2279468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccttaaacctgcaccGcatagacaaggatgtgcaga	11	10	0	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:2279468G>A	uc002fum.4	+	18	2699	c.2522G>A	c.(2521-2523)cGc>cAc	p.R841H	SGSM2_uc002fun.4_Missense_Mutation_p.R796H|SGSM2_uc010vqw.2_Missense_Mutation_p.R796H|SGSM2_uc002fuq.3_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	796	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AACCTGCACCGCATAGACAAG	0.597													4	93					0	0	1	0	0	A	2279468	G	A	2279468	3	1	283	1	0	0	0	0	1	0	0	0	14223	1087	38	1	2596	1	SGSM2	17	2279468	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	1986393	2279468	78915742	25	4892											
TRPV3	162514	broad.mit.edu	37	chr17	3438882	3438882	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccaccgaagtagaagccttCgtgttggtacttggggttga	13	9	0	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:3438882C>G	uc002fvr.2	-	6	1091	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.E241Q|TRPV3_uc010vri.1_Missense_Mutation_p.E212Q|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E257Q|TRPV3_uc010vrj.1_Missense_Mutation_p.E241Q|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.E241Q|TRPV3_uc002fvu.3_Missense_Mutation_p.E257Q	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	257						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TAGAAGCCTTCGTGTTGGTAC	0.692													20	38					0	0	1	0	0	G	3438882	C	G	3438882	3	3	283	1	0	0	0	0	1	0	0	0	16594	893	31	4	1651	4	TRPV3	17	3438882	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	1159414	3438882	77756328	26	4893											
PCGF2	7703	broad.mit.edu	37	chr17	36895858	36895858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgctcagcagcggccGggttttatggacctgcacgt	13	12	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:36895858G>A	uc002hqp.1	-	3	436	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	64					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R64W(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AGCAGCGGCCGGGTTTTATGG	0.617													32	96					0	0	1	0	0	A	36895858	G	A	36895858	3	1	283	1	0	0	0	0	1	0	0	0	11575	1115	39	1	876	1	PCGF2	17	36895858	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	33456976	36895858	44299352	27	4894											
DDX42	11325	broad.mit.edu	37	chr17	61885116	61885116	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcattaagtggtagagacatGattggtattgccaaaacagg	12	5	0	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:61885116G>A	uc002jbu.3	+	9	1136	c.879G>A	c.(877-879)atG>atA	p.M293I	DDX42_uc002jbv.3_Missense_Mutation_p.M293I|DDX42_uc002jbw.1_Missense_Mutation_p.M29I|DDX42_uc002jbx.3_Missense_Mutation_p.M29I	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	293	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTAGAGACATGATTGGTATTG	0.413													37	76					0	0	1	0	0	A	61885116	G	A	61885116	3	1	283	1	0	0	0	0	1	0	0	0	4362	1290	45	2	909	2	DDX42	17	61885116	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	24989258	61885116	19310094	28	4895											
AXIN2	8313	broad.mit.edu	37	chr17	63554510	63554510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaaggacttggtccaccGggtcagaggggaatccggag	17	8	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:63554510G>A	uc002jfi.3	-	1	518	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	AXIN2_uc010den.1_Missense_Mutation_p.R77W|AXIN2_uc002jfh.3_Missense_Mutation_p.R77W|AXIN2_uc002jfj.1_Missense_Mutation_p.R77W	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	77					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGGTCCACCGGGTCAGAGGG	0.572									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				4	90					0	0	1	0	0	A	63554510	G	A	63554510	3	1	283	1	0	0	0	0	1	0	0	0	1237	1115	39	1	2342	1	AXIN2	17	63554510	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	1669394	63554510	17640700	29	4896											
NFATC1	4772	broad.mit.edu	37	chr18	77171140	77171140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccacgccgtccccgcacGgctccccgcgggtcagcgtg	13	21	1	0			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr18:77171140G>A	uc010xfg.2	+	1	1318	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	NFATC1_uc002lnc.1_Missense_Mutation_p.G289S|NFATC1_uc010xff.1_Missense_Mutation_p.G289S|NFATC1_uc002lnd.3_Missense_Mutation_p.G289S|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.G289S|NFATC1_uc010xfi.1_Missense_Mutation_p.G276S|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.G276S|NFATC1_uc002lng.3_Missense_Mutation_p.G276S|NFATC1_uc010xfk.2_Missense_Mutation_p.G276S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	289	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GTCCCCGCACGGCTCCCCGCG	0.687													39	64					0	0	1	0	0	A	77171140	G	A	77171140	3	1	283	1	0	0	0	0	1	0	0	0	10361	1116	39	1	963	1	NFATC1	18	77171140	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		77171140	906108	30	4897											
HDGFRP2	84717	broad.mit.edu	37	chr19	4498373	4498373	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctaaaggtcgacagcccGgtaagaccctcagggcctgt	12	14	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:4498373G>A	uc002mao.3	+	12	1566	c.1473_splice	c.e12+1	p.P491_splice	HDGFRP2_uc002map.3_Splice_Site_p.P491_splice|HDGFRP2_uc010dtz.1_Splice_Site|HDGFRP2_uc002maq.1_5'Flank|HDGFRP2_uc010dua.3_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	491					transcription, DNA-dependent	nucleus	DNA binding|protein binding										TCGACAGCCCGGTAAGACCCT	0.627													7	16					0	0	1	0	0	A	4498373	G	A	4498373	5	1	283	1	0	0	0	0	0	0	1	0	7020	1130	39	1	1519	1	HDGFRP2	19	4498373	Splice_Site	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		4498373	54630610	31	4898											
FLT3LG	2323	broad.mit.edu	37	chr19	49979779	49979779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcaaggcttgctggagCgcgtgaacacggagatacac	14	9	0	3			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:49979779C>T	uc002pnu.3	+	4	408	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	FLT3LG_uc002pnw.3_Missense_Mutation_p.R18C|FLT3LG_uc010yau.2_Missense_Mutation_p.R100C|FLT3LG_uc002pnv.3_Missense_Mutation_p.R18C|FLT3LG_uc002pnx.3_Missense_Mutation_p.R100C|FLT3LG_uc010yav.2_Missense_Mutation_p.R18C	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	100					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTTGCTGGAGCGCGTGAACAC	0.592											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	51					0	0	1	0	0	T	49979779	C	T	49979779	3	4	283	1	0	0	0	0	1	0	0	0	5943	768	27	1	312	1	FLT3LG	19	49979779	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	45481406	49979779	9149204	32	4899											
SCAF1	58506	broad.mit.edu	37	chr19	50154329	50154329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccccccgattcgatatctAtgaccccttccaccccaccg	5	20	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:50154329A>G	uc002poq.3	+	6	807	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	228	Pro-rich.				RNA splicing|mRNA processing	nucleus	RNA binding	p.I227N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTCGATATCTATGACCCCTTC	0.657													27	52					0	0	1	0	0	G	50154329	A	G	50154329	3	3	283	1	0	0	0	0	1	0	0	0	13868	449	16	3	705	3	SCAF1	19	50154329	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	174550	50154329	8974654	33	4900											
ZNF613	79898	broad.mit.edu	37	chr19	52443516	52443516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgggaggagtggcagCtcctcggccctgctcagaag	14	12	2	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:52443516C>T	uc002pxz.2	+	3	534	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F	ZNF613_uc002pya.2_5'UTR	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGAGTGGCAGCTCCTCGGCCC	0.512													52	78					0	0	1	0	0	T	52443516	C	T	52443516	3	4	283	1	0	0	0	0	1	0	0	0	18035	797	28	2	76	2	ZNF613	19	52443516	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	2289187	52443516	6685467	34	4901											
ZNF497	162968	broad.mit.edu	37	chr19	58868467	58868467	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgtctcctggtggtGgatgagctgcgagtgcgcgc	18	9	1	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:58868467G>C	uc002qsh.2	-	2	818	c.535C>G	c.(535-537)Cac>Gac	p.H179D	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.H179D|ZNF497_uc021vcw.1_Missense_Mutation_p.H179D|BC023201_uc002qsj.1_5'UTR|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCTGGTGGTGGATGAGCTGC	0.677													8	22					0	0	1	0	0	C	58868467	G	C	58868467	3	2	283	1	0	0	0	0	1	0	0	0	17943	1348	47	4	965	4	ZNF497	19	58868467	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	6424951	58868467	260516	35	4902											
BTBD3	22903	broad.mit.edu	37	chr20	11904148	11904148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccagacaccttctacaCagccagtgtgatactggatg	10	12	1	2			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:11904148C>T	uc002wnz.3	+	3	1762	c.1403C>T	c.(1402-1404)aCa>aTa	p.T468I	BTBD3_uc002wny.3_Missense_Mutation_p.T407I|BTBD3_uc002woa.3_Missense_Mutation_p.T407I|BTBD3_uc010zrf.2_Missense_Mutation_p.T317I|BTBD3_uc010zrg.2_Missense_Mutation_p.T317I|BTBD3_uc010zrh.2_Missense_Mutation_p.T317I	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	468										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ACCTTCTACACAGCCAGTGTG	0.493													10	33					0	0	1	0	0	T	11904148	C	T	11904148	3	4	283	1	0	0	0	0	1	0	0	0	1544	478	17	2	1417	2	BTBD3	20	11904148	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		11904148	51121372	36	4903											
NINL	22981	broad.mit.edu	37	chr20	25507167	25507167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccagtccccgtggtgtcGcagctgctgtagacttccct	11	14	0	1			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:25507167G>A	uc002wux.1	-	1	131	c.57C>T	c.(55-57)tgC>tgT	p.C19C	NINL_uc010gdn.1_Silent_p.C19C|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Silent_p.C35C	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	19	EF-hand 1.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCGTGGTGTCGCAGCTGCTGT	0.577													48	66					0	0	1	0	0	A	25507167	G	A	25507167	2	1	283	1	0	0	0	0	0	0	0	1	10420	1079	38	1		1	NINL	20	25507167	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	13603019	25507167	37518353	37	4904											
KIAA1755	85449	broad.mit.edu	37	chr20	36869104	36869104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggttgcctctgccctcTcaagaatgagaatttgagcc	11	10	2	4			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:36869104T>C	uc002xhy.1	-	2	1701	c.1429A>G	c.(1429-1431)Aga>Gga	p.R477G	KIAA1755_uc002xhz.1_Missense_Mutation_p.R477G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	477										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCTGCCCTCTCAAGAATGAG	0.572													4	51					0	0	1	0	0	C	36869104	T	C	36869104	3	2	283	1	0	0	0	0	1	0	0	0	8257	1559	54	3	2221	3	KIAA1755	20	36869104	Missense_Mutation	SNP	T	TCGA-EM-A3O3-01A-11D-A21Z-08	11361937	36869104	26156416	38	4905											
CASZ1	54897	broad.mit.edu	37	chr1	10713462	10713462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggcagagggcttgagGgcagctgcagccagcctggc	18	10	0	2			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:10713462G>A	uc001aro.3	-	10	2972	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	CASZ1_uc001arp.1_Silent_p.A884A|CASZ1_uc009vmx.2_Silent_p.A908A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGGCTTGAGGGCAGCTGCAG	0.657													27	44					0	0	1	0	0	A	10713462	G	A	10713462	2	1	284	1	0	0	0	0	0	0	0	1	2685	1219	43	2		2	CASZ1	1	10713462	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		10713462	238537159	1	4906											
AKNAD1	254268	broad.mit.edu	37	chr1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgatccttccgtggcccTttttctccacgttttgcttc	7	13	1	1			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:109369904T>C	uc001dwa.3	-	10	2128	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_uc010ovb.2_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	620										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413													5	251					0	0	1	0	0	C	109369904	T	C	109369904	3	2	284	1	0	0	0	0	1	0	0	0	464	1609	56	3	675	3	AKNAD1	1	109369904	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	98656442	109369904	139880717	2	4907											
ATP1A1	476	broad.mit.edu	37	chr1	116929945	116929945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcagctgagatcctggcGcgagatggtcccaacgccct	13	14	0	2	rs147430340		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:116929945G>A	uc001ege.3	+	3	558	c.219G>A	c.(217-219)gcG>gcA	p.A73A	ATP1A1_uc010owv.1_Silent_p.A42A|ATP1A1_uc010oww.2_Silent_p.A73A|ATP1A1_uc010owx.2_Silent_p.A42A	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	73					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGATCCTGGCGCGAGATGGTC	0.498													23	74					0	0	1	0	0	A	116929945	G	A	116929945	2	1	284	1	0	0	0	0	0	0	0	1	1128	1074	38	1		1	ATP1A1	1	116929945	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08	7560041	116929945	132320676	3	4908											
ZNF669	79862	broad.mit.edu	37	chr1	247264279	247264279	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgatgtctttcaacTgaattgagaaaataaaaagc	7	6	3	3			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:247264279T>G	uc001ice.2	-	3	965	c.792A>C	c.(790-792)tcA>tcC	p.S264S	ZNF669_uc001icf.2_Silent_p.S178S	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTCTTTCAACTGAATTGAGAA	0.363													5	79					0	0	1	0	0	G	247264279	T	G	247264279	2	3	284	1	0	0	0	0	0	0	0	1	18073	1567	55	5		5	ZNF669	1	247264279	Silent	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	130334334	247264279	1986342	4	4909											
NEB	4703	broad.mit.edu	37	chr2	152496938	152496938	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcaggcatgtccactgGtgcaggtagttcttgtagtc	14	9	1	0			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr2:152496938G>C	uc002txu.3	-	60	8819	c.8616C>G	c.(8614-8616)caC>caG	p.H2872Q	NEB_uc021vrb.1_Missense_Mutation_p.H2872Q|NEB_uc021vrc.1_Missense_Mutation_p.H2872Q|NEB_uc010fnx.3_Missense_Mutation_p.H2872Q|NEB_uc021vrd.1_Missense_Mutation_p.H2872Q	NM_001164507	NP_001157979	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 1, mRNA.	2872					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCCACTGGTGCAGGTAGT	0.562													12	299					0	0	1	0	0	C	152496938	G	C	152496938	3	2	284	1	0	0	0	0	1	0	0	0	10302	1252	44	4	17558	4	NEB	2	152496938	Missense_Mutation	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		152496938	90702435	5	4910											
DHX30	22907	broad.mit.edu	37	chr3	47859529	47859529	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcgggcccagcacaggCagcgtcagtgcaaacttccc	11	15	1	1			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr3:47859529C>T	uc003cru.3	+	3	472	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	DHX30_uc003crs.2_5'UTR|DHX30_uc003crt.3_5'UTR	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	16						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ccagcacaggcagcgtcagtg	0.607													56	218					0	0	1	0	0	T	47859529	C	T	47859529	4	4	284	1	0	0	0	0	0	1	0	0	4504	711	25	2	52	2	DHX30	3	47859529	Nonsense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		47859529	150162901	6	4911											
MARCH6	10299	broad.mit.edu	37	chr5	10390572	10390572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaatttggttggagcatgCtgccccaccgttcaatgctg	10	12	1	0			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:10390572C>T	uc003jet.1	+	5	719	c.536C>T	c.(535-537)gCt>gTt	p.A179V	MARCH6_uc011cmu.1_Missense_Mutation_p.A131V|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.A74V	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	179					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTGGAGCATGCTGCCCCACCG	0.488													20	85					0	0	1	0	0	T	10390572	C	T	10390572	3	4	284	1	0	0	0	0	1	0	0	0	9305	797	28	2	558	2	MARCH6	5	10390572	Missense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		10390572	170524688	7	4912											
PIK3R1	5295	broad.mit.edu	37	chr5	67592034	67592034	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatgatgaagatttgcCccatcatgatgagaagacat	11	6	1	7			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:67592034C>G	uc003jva.3	+	14	2430	c.1850C>G	c.(1849-1851)cCc>cGc	p.P617R	PIK3R1_uc003jvc.3_Missense_Mutation_p.P317R|PIK3R1_uc003jvd.3_Missense_Mutation_p.P347R|PIK3R1_uc003jve.3_Missense_Mutation_p.P296R|PIK3R1_uc021xzn.1_Missense_Mutation_p.P254R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	617					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAGATTTGCCCCATCATGAT	0.488			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			34	91					0	0	1	0	0	G	67592034	C	G	67592034	3	3	284	1	0	0	0	0	1	0	0	0	11918	623	22	4	2034	4	PIK3R1	5	67592034	Missense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08	57201462	67592034	113323226	8	4913											
PDGFRB	5159	broad.mit.edu	37	chr5	149500817	149500817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacctggtagctgaagcCcacgaggtccatgtagctta	12	12	0	1			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:149500817C>T	uc003lro.3	-	16	2882	c.2413G>A	c.(2413-2415)Ggc>Agc	p.G805S	PDGFRB_uc010jhd.3_Missense_Mutation_p.G644S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	805	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGCTGAAGCCCACGAGGTCC	0.582			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								34	75					0	0	1	0	0	T	149500817	C	T	149500817	3	4	284	1	0	0	0	0	1	0	0	0	11662	623	22	2	935	2	PDGFRB	5	149500817	Missense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08	81908783	149500817	31414443	9	4914											
C4B	721	broad.mit.edu	37	chr6	31996293	31996293	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatgcggcttggttgtcaCggggcagcagcacctggtga	15	11	1	1	rs139543260		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr6:31996293C>A	uc011dpd.2	+	24	3265	c.3214C>A	c.(3214-3216)Cgg>Agg	p.R1072R	C4B_uc011dpe.2_Silent_p.R1072R	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1072					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TTGGTTGTCACGGGGCAGCAG	0.622													3	82					0	0	1	0	0	A	31996293	C	A	31996293	2	1	284	1	0	0	0	0	0	0	0	1	2248	527	19	4		4	C4B	6	31996293	Silent	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		31996293	139118774	10	4915											
MYO6	4646	broad.mit.edu	37	chr6	76551012	76551012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaaagaggaaagaaatTatcatatcttttataggttg	9	3	2	2			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr6:76551012T>C	uc003pih.1	+	8	1012	c.733T>C	c.(733-735)Tat>Cat	p.Y245H	MYO6_uc003pig.1_Missense_Mutation_p.Y245H|MYO6_uc003pii.1_Missense_Mutation_p.Y245H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	245	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGAAAGAAATTATCATATCTT	0.353													4	92					0	0	1	0	0	C	76551012	T	C	76551012	3	2	284	1	0	0	0	0	1	0	0	0	10081	1754	61	3	763	3	MYO6	6	76551012	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	44554719	76551012	94564055	11	4916											
CSMD3	114788	broad.mit.edu	37	chr8	113259316	113259316	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcgtgttgtagacccttgGagaaggtgtccttttttgca	13	7	0	2			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr8:113259316G>A	uc003ynu.3	-	63	10314	c.10155C>T	c.(10153-10155)ctC>ctT	p.L3385L	CSMD3_uc003yns.3_Silent_p.L2587L|CSMD3_uc003ynt.3_Silent_p.L3345L|CSMD3_uc011lhx.2_Silent_p.L3216L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3385	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGACCCTTGGAGAAGGTGTC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	66					0	0	1	0	0	A	113259316	G	A	113259316	2	1	284	1	0	0	0	0	0	0	0	1	3946	1161	41	2		2	CSMD3	8	113259316	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		113259316	33104706	12	4917											
PTEN	5728	broad.mit.edu	37	chr10	89717730	89717730	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccgttacctgtgtgtggtgAtatcaaagtagagttcttcc	11	8	2	2	rs121909239		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr10:89717730A>T	uc001kfb.3	+	6	1787	c.755A>T	c.(754-756)gAt>gTt	p.D252V	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	252	C2 tensin-type.		D -> G (in MCEPHAS).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.D252Y(4)|p.G251C(4)|p.D252G(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D252_K263>AKE(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.D252fs*45(1)|p.G165_K342del(1)|p.G251V(1)|p.G251fs*6(1)|p.D252D(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTGTGTGGTGATATCAAAGTA	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			33	32					0	0	1	0	0	T	89717730	A	T	89717730	3	4	284	1	0	0	0	0	1	0	0	0	12738	333	12	5	781	5	PTEN	10	89717730	Missense_Mutation	SNP	A	TCGA-EM-A3O6-01A-11D-A21Z-08		89717730	45817017	13	4918											
APAF1	317	broad.mit.edu	37	chr12	99121092	99121092	+	Frame_Shift_Del	DEL	A	A	-													tctctgctggaggatatattAaggtaagagttccccaagaa							TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr12:99121092delA	uc001tfz.3	+	25	4175	c.3598delA	c.(3598-3600)aagfs	p.K1200fs	APAF1_uc001tfy.3_Frame_Shift_Del_p.K1189fs|APAF1_uc001tga.3_Frame_Shift_Del_p.K1146fs|APAF1_uc001tgb.3_Frame_Shift_Del_p.K1157fs|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Frame_Shift_Del_p.K524fs	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	1200					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGGATATATTAAGGTAAGAGT	0.428													41	69	---	---	---	---						-	99121092	A	-	99121092	7	5	284	1	0	1	0	1	0	0	0	0	755	363	13	0	3696	0	APAF1	12	99121092	Frame_Shift_Del	DEL	A	TCGA-EM-A3O6-01A-11D-A21Z-08		99121092	34730803	14	4919											
COL4A1	1282	broad.mit.edu	37	chr13	110857850	110857850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacttacgggactcccTttttcccctttgtcaccatc	5	15	1	0			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr13:110857850T>C	uc001vqw.4	-	15	1016	c.894A>G	c.(892-894)aaA>aaG	p.K298K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	298	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGACTCCCTTTTTCCCCTT	0.463													5	293					0	0	1	0	0	C	110857850	T	C	110857850	2	2	284	1	0	0	0	0	0	0	0	1	3689	1606	56	3		3	COL4A1	13	110857850	Silent	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08		110857850	4312028	15	4920											
LENG8	114823	broad.mit.edu	37	chr19	54963317	54963317	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggccgagagaatggcaTggagacgccgatgcacgaga	17	9	0	3			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr19:54963317T>C	uc002qfv.1	+	2	230	c.86T>C	c.(85-87)aTg>aCg	p.M29T	LENG8_uc002qfw.2_Missense_Mutation_p.M29T			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	29							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GAGAATGGCATGGAGACGCCG	0.617													4	125					0	0	1	0	0	C	54963317	T	C	54963317	3	2	284	1	0	0	0	0	1	0	0	0	8724	1464	51	3	92	3	LENG8	19	54963317	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08		54963317	4165666	16	4921											
ACSS1	84532	broad.mit.edu	37	chr20	24988532	24988532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatcttcctcaggagccGccgcatgaccttcccagacc	9	16	2	3			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr20:24988532G>A	uc002wub.3	-	13	2016	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	ACSS1_uc002wuc.3_Missense_Mutation_p.R644W|ACSS1_uc021wbm.1_Intron|ACSS1_uc010gdc.3_Missense_Mutation_p.R441W|ACSS1_uc002wua.3_Missense_Mutation_p.R563W|ACSS1_uc021wbl.1_Missense_Mutation_p.R525W|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	646					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCAGGAGCCGCCGCATGACC	0.567													3	75					0	0	1	0	0	A	24988532	G	A	24988532	3	1	284	1	0	0	0	0	1	0	0	0	188	1086	38	1	137	1	ACSS1	20	24988532	Missense_Mutation	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		24988532	38036988	17	4922											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709485	31709485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctacaggaactggattcagGgttctgagactgacactgac	11	9	3	3			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr21:31709485G>C	uc002ynx.1	-	0	528	c.502C>G	c.(502-504)Cct>Gct	p.P168A		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA.	168						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTGGATTCAGGGTTCTGAGAC	0.478													5	113					0	0	1	0	0	C	31709485	G	C	31709485	3	2	284	1	0	0	0	0	1	0	0	0	8544	1232	43	4	125	4	KRTAP27-1	21	31709485	Missense_Mutation	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		31709485	16420410	18	4923											
TCF20	6942	broad.mit.edu	37	chr22	42610592	42610592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggaggaggaggaggaGgaagcagaagactgatagtg	20	2	0	3			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr22:42610592G>A	uc003bcj.1	-	0	854	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_uc003bck.1_Silent_p.S240S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	240	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512													3	70					0	0	1	0	0	A	42610592	G	A	42610592	2	1	284	1	0	0	0	0	0	0	0	1	15687	987	35	2		2	TCF20	22	42610592	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		42610592	8693974	19	4924											
BCOR	54880	broad.mit.edu	37	chrX	39922927	39922927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctttggcctctgcccTtttcctgccaggtttctctt	8	14	2	0			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chrX:39922927T>C	uc004den.4	-	7	4073	c.3781A>G	c.(3781-3783)Agg>Ggg	p.R1261G	BCOR_uc004dep.4_Missense_Mutation_p.R1227G|BCOR_uc004deo.4_Missense_Mutation_p.R1209G|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Missense_Mutation_p.R1227G	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1261					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCCTCTGCCCTTTTCCTGCCA	0.562			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						3	240					0	0	1	0	0	C	39922927	T	C	39922927	3	2	284	1	0	0	0	0	1	0	0	0	1386	1608	56	3	1518	3	BCOR	23	39922927	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08		39922927	115347633	20	4925											
PHF8	23133	broad.mit.edu	37	chrX	54048691	54048691	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actggaggcagggttcctcaCctgtcaaaagtcctactccg	10	13	2	0			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chrX:54048691C>A	uc004dsu.3	-	4	647	c.401_splice	c.e4+1	p.S134_splice	PHF8_uc004dst.3_Splice_Site_p.S98_splice|PHF8_uc004dsw.3_Splice_Site_p.S98_splice|PHF8_uc004dsy.3_Splice_Site_p.S98_splice	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	134					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGGTTCCTCACCTGTCAAAAG	0.572													32	82					0	0	1	0	0	A	54048691	C	A	54048691	5	1	284	1	0	0	0	0	0	0	1	0	11840	521	18	4	3026	4	PHF8	23	54048691	Splice_Site	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08	14125764	54048691	101221869	21	4926											
PIP5K1A	8394	broad.mit.edu	37	chr1	151196719	151196719	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtttttttttcccccctAgcagcatctggaatcaagag	7	10	2	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:151196719A>G	uc001exj.3	+	2	538	c.86_splice	c.e2-2	p.A29_splice	PIP5K1A_uc021oyo.1_Splice_Site_p.A29_splice|PIP5K1A_uc001exi.3_Intron|PIP5K1A_uc010pcu.2_Splice_Site_p.A29_splice|PIP5K1A_uc001exk.3_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	29					phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTCCCCCCTAGCAGCATCTG	0.383													3	126					0	0	1	0	0	G	151196719	A	G	151196719	5	3	285	1	0	0	0	0	0	0	1	0	11939	434	15	3	90	3	PIP5K1A	1	151196719	Splice_Site	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		151196719	98053902	1	4927											
POGZ	23126	broad.mit.edu	37	chr1	151377730	151377730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatacatctaatggctgaaTtttggagctacagcctgctg	10	9	1	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:151377730T>A	uc001eyd.2	-	18	4096	c.3781A>T	c.(3781-3783)Att>Ttt	p.I1261F	POGZ_uc021oyq.1_Missense_Mutation_p.I1208F|POGZ_uc010pdb.2_Missense_Mutation_p.I1252F|POGZ_uc010pdc.2_Missense_Mutation_p.I1199F|POGZ_uc009wmv.2_Missense_Mutation_p.I1166F|POGZ_uc001eyf.2_Missense_Mutation_p.I1217F|POGZ_uc010pdd.2_Missense_Mutation_p.I752F	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1261	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATGGCTGAATTTTGGAGCTA	0.468													8	192					0	0	1	0	0	A	151377730	T	A	151377730	3	1	285	1	0	0	0	0	1	0	0	0	12186	1493	52	5	455	5	POGZ	1	151377730	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08	181011	151377730	97872891	2	4928											
ARHGEF2	9181	broad.mit.edu	37	chr1	155932417	155932417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcgtttgtctcgggcGtacagctccttatagagctt	12	9	1	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:155932417G>A	uc001fmu.2	-	12	1455	c.1200C>T	c.(1198-1200)taC>taT	p.Y400Y	ARHGEF2_uc001fmr.2_Silent_p.Y328Y|ARHGEF2_uc001fms.2_Silent_p.Y355Y|ARHGEF2_uc001fmt.2_Silent_p.Y356Y|ARHGEF2_uc010pgt.1_Silent_p.Y329Y|ARHGEF2_uc010pgu.1_Silent_p.Y401Y	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	356	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557													3	68					0	0	1	0	0	A	155932417	G	A	155932417	2	1	285	1	0	0	0	0	0	0	0	1	903	1140	40	1		1	ARHGEF2	1	155932417	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	4554687	155932417	93318204	3	4929											
TRIM67	440730	broad.mit.edu	37	chr1	231299576	231299576	+	Frame_Shift_Del	DEL	G	G	-													tgcaagagcccgggaggcgcGggggcgggggcgactggggg							TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:231299576delG	uc009xfn.1	+	0	903	c.861delG	c.(859-861)gcgfs	p.A287fs		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	287						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGGGAGGCGCGGGGGCGGGGG	0.756													2	4	---	---	---	---						-	231299576	G	-	231299576	7	5	285	1	0	1	0	1	0	0	0	0	16537	1103	39	0	863	0	TRIM67	1	231299576	Frame_Shift_Del	DEL	G	TCGA-EM-A3O7-01A-11D-A21Z-08	75367159	231299576	17951045	4	4930											
FAM123C	205147	broad.mit.edu	37	chr2	131521451	131521451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagggatgcctctcgagaGgaagagacacgaggtcactc	13	11	2	2			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:131521451G>A	uc002trw.2	+	1	1996	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	FAM123C_uc010fmv.2_Silent_p.E602E|FAM123C_uc010fms.1_Silent_p.E602E|FAM123C_uc010fmt.1_Silent_p.E602E|FAM123C_uc010fmu.1_Silent_p.E602E|FAM123C_uc021voy.1_Silent_p.E602E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	602										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCTCTCGAGAGGAAGAGACAC	0.592													3	86					0	0	1	0	0	A	131521451	G	A	131521451	2	1	285	1	0	0	0	0	0	0	0	1	5424	991	35	2		2	FAM123C	2	131521451	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08		131521451	111677922	5	4931											
WIPF1	7456	broad.mit.edu	37	chr2	175437077	175437077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgtggcctggagaaggCacaggaaacctccctgggcc	13	13	1	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:175437077C>T	uc010fqt.1	-	4	620	c.456G>A	c.(454-456)gtG>gtA	p.V152V	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Silent_p.V152V|WIPF1_uc002ujc.1_Silent_p.V152V|WIPF1_uc002uiz.3_Silent_p.V152V|WIPF1_uc002ujb.2_Silent_p.V152V|WIPF1_uc010zep.1_Silent_p.V152V	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	152					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTGGAGAAGGCACAGGAAACC	0.602													6	42					0	0	1	0	0	T	175437077	C	T	175437077	2	4	285	1	0	0	0	0	0	0	0	1	17364	697	25	2		2	WIPF1	2	175437077	Silent	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08	43915626	175437077	67762296	6	4932											
SESTD1	91404	broad.mit.edu	37	chr2	179997121	179997121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccactgggctcttagttgTtctgatccaggcccttctag	9	14	3	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:179997121T>C	uc002uni.4	-	9	1032	c.882A>G	c.(880-882)gaA>gaG	p.E294E		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	294					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTTAGTTGTTCTGATCCAG	0.443													4	142					0	0	1	0	0	C	179997121	T	C	179997121	2	2	285	1	0	0	0	0	0	0	0	1	14127	1722	60	3		3	SESTD1	2	179997121	Silent	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08	4560044	179997121	63202252	7	4933											
TNS1	7145	broad.mit.edu	37	chr2	218713453	218713453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccagaggagggcacagccGagccccctgctgggcgggac	17	14	0	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:218713453G>A	uc002vgt.2	-	16	1810	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	TNS1_uc002vgr.2_Missense_Mutation_p.S471L|TNS1_uc002vgs.2_Missense_Mutation_p.S471L|TNS1_uc010zjv.1_Missense_Mutation_p.S471L|TNS1_uc010fvj.1_Missense_Mutation_p.S539L|TNS1_uc010fvk.1_Missense_Mutation_p.S596L|TNS1_uc010fvi.1_Missense_Mutation_p.S158L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	471						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGCACAGCCGAGCCCCCTGC	0.632													3	92					0	0	1	0	0	A	218713453	G	A	218713453	3	1	285	1	0	0	0	0	1	0	0	0	16340	1059	37	1	3863	1	TNS1	2	218713453	Missense_Mutation	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	38716332	218713453	24485920	8	4934											
LARS2	23395	broad.mit.edu	37	chr3	45533062	45533062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgactcagaaagcccgGgggaagagagtgggtggaga	18	8	1	4			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr3:45533062G>A	uc003cop.1	+	12	1478	c.1293G>A	c.(1291-1293)cgG>cgA	p.R431R	LARS2_uc010hit.1_Silent_p.R388R	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	431					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGAAAGCCCGGGGGAAGAGAG	0.542													3	75					0	0	1	0	0	A	45533062	G	A	45533062	2	1	285	1	0	0	0	0	0	0	0	1	8635	1219	43	2		2	LARS2	3	45533062	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08		45533062	152489368	9	4935											
SLC39A7	7922	broad.mit.edu	37	chr6	33169616	33169616	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccccggcatcgctctctacTtcagatcttgctcagttttg	7	14	4	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:33169616T>A	uc003odf.3	+	2	623	c.506T>A	c.(505-507)cTt>cAt	p.L169H	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.L169H|SLC39A7_uc011dqv.2_Missense_Mutation_p.L44H|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	169						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CGCTCTCTACTTCAGATCTTG	0.537													69	63					0	0	1	0	0	A	33169616	T	A	33169616	3	1	285	1	0	0	0	0	1	0	0	0	14623	1609	56	5	512	5	SLC39A7	6	33169616	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		33169616	137945451	10	4936											
FAM83B	222584	broad.mit.edu	37	chr6	54805631	54805631	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaggttcctgaaaaccactCagtagccttaaaccaaacta	6	12	1	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:54805631C>A	uc003pck.3	+	4	1978	c.1862C>A	c.(1861-1863)tCa>tAa	p.S621*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	621										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAAACCACTCAGTAGCCTTA	0.398													3	54					0	0	1	0	0	A	54805631	C	A	54805631	4	1	285	1	0	0	0	0	0	1	0	0	5634	838	29	4	1876	4	FAM83B	6	54805631	Nonsense_Mutation	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08	21636015	54805631	116309436	11	4937											
VNN2	8875	broad.mit.edu	37	chr6	133065566	133065566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtaccacctcccaaagAgtgacactgttagtataggc	9	10	0	2			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:133065566A>G	uc003qdt.3	-	6	1447	c.1436T>C	c.(1435-1437)cTc>cCc	p.L479P	VNN2_uc003qds.3_Missense_Mutation_p.L188P|VNN2_uc010kgb.3_Missense_Mutation_p.L258P|VNN2_uc003qdv.3_Missense_Mutation_p.L426P	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	479					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCTCCCAAAGAGTGACACTGT	0.403													50	51					0	0	1	0	0	G	133065566	A	G	133065566	3	3	285	1	0	0	0	0	1	0	0	0	17180	304	11	3	130	3	VNN2	6	133065566	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08	78259935	133065566	38049501	12	4938											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				54	70					0	0	1	0	0	T	140453136	A	T	140453136	3	4	285	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		140453136	18685527	13	4939											
NOL6	65083	broad.mit.edu	37	chr9	33468782	33468782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacacttctcaggacctggTagccactcatggtggtatgg	12	10	2	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr9:33468782T>C	uc003zsz.3	-	7	1216	c.1115A>G	c.(1114-1116)tAc>tGc	p.Y372C	NOL6_uc003zta.3_Missense_Mutation_p.Y372C|NOL6_uc010mjv.3_Missense_Mutation_p.Y372C|NOL6_uc011lob.2_Missense_Mutation_p.Y312C|NOL6_uc003ztb.1_Missense_Mutation_p.Y372C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	372					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGGACCTGGTAGCCACTCAT	0.547													4	314					0	0	1	0	0	C	33468782	T	C	33468782	3	2	285	1	0	0	0	0	1	0	0	0	10525	1638	57	3	2401	3	NOL6	9	33468782	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		33468782	107744649	14	4940											
TMEM132A	54972	broad.mit.edu	37	chr11	60695172	60695172	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatgggacgtgcgggcCgtttcagtggaagcggctgt	17	10	1	0			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr11:60695172C>G	uc001nqi.3	+	2	568	c.375C>G	c.(373-375)gcC>gcG	p.A125A	TMEM132A_uc001nqj.3_Silent_p.A125A|TMEM132A_uc001nqk.3_Silent_p.A138A|TMEM132A_uc001nql.1_Silent_p.A138A	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	125						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACGTGCGGGCCGTTTCAGTGG	0.632													13	132					0	0	1	0	0	G	60695172	C	G	60695172	2	3	285	1	0	0	0	0	0	0	0	1	16042	639	23	4		4	TMEM132A	11	60695172	Silent	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08		60695172	74311344	15	4941											
TAS2R20	259295	broad.mit.edu	37	chr12	11149659	11149659	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaatgagtggaatgaTggatatatgattccaaaagc	11	3	0	5			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr12:11149659T>C	uc001qzm.2	-	0	816	c.816A>G	c.(814-816)ccA>ccG	p.P272P	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.	272					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGTGGAATGATGGATATATGA	0.393													7	93					0	0	1	0	0	C	11149659	T	C	11149659	2	2	285	1	0	0	0	0	0	0	0	1	15568	1451	51	3		3	TAS2R20	12	11149659	Silent	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		11149659	122702236	16	4942											
PDZRN4	29951	broad.mit.edu	37	chr12	41967097	41967097	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaccacagctcctcatataGatatgcaaacatcccagcac	4	14	1	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr12:41967097G>T	uc010skn.2	+	9	2524	c.2516G>T	c.(2515-2517)aGa>aTa	p.R839I	PDZRN4_uc001rmq.4_Missense_Mutation_p.R581I|PDZRN4_uc009zjz.3_Missense_Mutation_p.R579I|PDZRN4_uc001rmr.3_Missense_Mutation_p.R466I	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	839							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCCTCATATAGATATGCAAAC	0.473													14	171					0	0	1	0	0	T	41967097	G	T	41967097	3	4	285	1	0	0	0	0	1	0	0	0	11710	942	33	4	2627	4	PDZRN4	12	41967097	Missense_Mutation	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	30817438	41967097	91884798	17	4943											
EFS	10278	broad.mit.edu	37	chr14	23828540	23828540	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccttcaggtggacatAgtcatactcctcggccatcg	9	14	3	0	rs147833862		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:23828540A>G	uc001wjo.3	-	3	1755	c.1147T>C	c.(1147-1149)Tat>Cat	p.Y383H	EFS_uc001wjp.3_Missense_Mutation_p.Y290H|EFS_uc010tnm.2_Missense_Mutation_p.Y214H	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	383					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGGTGGACATAGTCATACTCC	0.637													3	184					0	0	1	0	0	G	23828540	A	G	23828540	3	3	285	1	0	0	0	0	1	0	0	0	4959	420	15	3	550	3	EFS	14	23828540	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		23828540	83521000	18	4944											
MOAP1	64112	broad.mit.edu	37	chr14	93650551	93650551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccgagggttcatgtccaTccccctgcaccagtcttcta	7	15	3	0			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:93650551T>C	uc001ybj.3	-	2	407	c.37A>G	c.(37-39)Atg>Gtg	p.M13V	MOAP1_uc021saw.1_Missense_Mutation_p.M13V|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	13					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttcatgtccatccccctgcac	0.507													3	149					0	0	1	0	0	C	93650551	T	C	93650551	3	2	285	1	0	0	0	0	1	0	0	0	9680	1435	50	3	1022	3	MOAP1	14	93650551	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08	69822011	93650551	13698989	19	4945											
RCOR1	23186	broad.mit.edu	37	chr14	103148316	103148316	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtcagaagcaaagtGtaagtcttggagcactttat	9	6	3	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:103148316G>T	uc001ymb.3	+	3	673	c.436_splice	c.e3+1	p.L146_splice		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	Homo sapiens REST corepressor 1 (RCOR1), mRNA.	146	ELM2.|Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GAAGCAAAGTGTAAGTCTTGG	0.378													3	54					0	0	1	0	0	T	103148316	G	T	103148316	5	4	285	1	0	0	0	0	0	0	1	0	13182	1391	48	4	447	4	RCOR1	14	103148316	Splice_Site	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	9497765	103148316	4201224	20	4946											
COG8	84342	broad.mit.edu	37	chr16	69366761	69366761	+	Frame_Shift_Del	DEL	G	G	-													ggcagcctcttcagcgcgatGgaaggccaggattattttag							TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr16:69366761delG	uc002ewy.2	-	3	1509	c.1438delC	c.(1438-1440)catfs	p.H480fs	PDF_uc002ewx.1_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	480					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCAGCGCGATGGAAGGCCAGG	0.502													25	40	---	---	---	---						-	69366761	G	-	69366761	7	5	285	1	0	1	0	1	0	0	0	0	3664	1348	47	0	408	0	COG8	16	69366761	Frame_Shift_Del	DEL	G	TCGA-EM-A3O7-01A-11D-A21Z-08		69366761	20987992	21	4947											
MYH1	4619	broad.mit.edu	37	chr17	10406153	10406153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggtctgctggtgggcctCctggagagccttcttctcct	13	13	3	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr17:10406153C>T	uc002gmo.3	-	23	3107	c.3013G>A	c.(3013-3015)Gag>Aag	p.E1005K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1005						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTGGGCCTCCTGGAGAGCC	0.498													11	127					0	0	1	0	0	T	10406153	C	T	10406153	3	4	285	1	0	0	0	0	1	0	0	0	10029	864	30	2	2874	2	MYH1	17	10406153	Missense_Mutation	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08		10406153	70789057	22	4948											
COL1A1	1277	broad.mit.edu	37	chr17	48271724	48271724	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcaccttggcaccaggcaGaccagcttcaccgggacgac	10	17	2	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr17:48271724G>A	uc002iqm.3	-	22	1726	c.1600C>T	c.(1600-1602)Ctg>Ttg	p.L534L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	534	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCACCAGGCAGACCAGCTTCA	0.647			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						41	38					0	0	1	0	0	A	48271724	G	A	48271724	2	1	285	1	0	0	0	0	0	0	0	1	3677	933	33	2		2	COL1A1	17	48271724	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	37865571	48271724	32923486	23	4949											
ZNF563	147837	broad.mit.edu	37	chr19	12430333	12430333	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccacattccttacactcaTagcgtttctttccagtgtga	5	12	2	1			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr19:12430333T>C	uc002mtp.3	-	3	744	c.506A>G	c.(505-507)tAt>tGt	p.Y169C	ZNF563_uc002mtq.2_Missense_Mutation_p.Y169C	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTACACTCATAGCGTTTCTT	0.433													43	82					0	0	1	0	0	C	12430333	T	C	12430333	3	2	285	1	0	0	0	0	1	0	0	0	17991	1406	49	3	928	3	ZNF563	19	12430333	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		12430333	46698650	24	4950											
ZMYM1	79830	broad.mit.edu	37	chr1	35580761	35580761	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcttactggcccagcCctaatggctgttgagcagga	13	10	0	2			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr1:35580761C>A	uc001bym.3	+	9	3476	c.3330C>A	c.(3328-3330)gcC>gcA	p.A1110A	ZMYM1_uc001byn.3_Silent_p.A1110A|ZMYM1_uc010ohu.2_Silent_p.A1091A|ZMYM1_uc001byo.3_Silent_p.A750A|ZMYM1_uc009vut.3_Silent_p.A1035A	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	1110						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGGCCCAGCCCTAATGGCTG	0.383													3	74					0	0	1	0	0	A	35580761	C	A	35580761	2	1	286	1	0	0	0	0	0	0	0	1	17696	610	22	4		4	ZMYM1	1	35580761	Silent	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08		35580761	213669860	1	4951											
GFI1	2672	broad.mit.edu	37	chr1	92941764	92941764	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttgtgaggcttctcaCctgtggggatgggaggggga	19	7	1	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr1:92941764C>T	uc001dou.4	-	7	1255	c.1091_splice	c.e7-1	p.G364_splice	GFI1_uc001dov.4_Splice_Site_p.G364_splice|GFI1_uc001dow.4_Splice_Site_p.G364_splice	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	364					negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		AGGCTTCTCACCTGTGGGGAT	0.582													4	21					0	0	1	0	0	T	92941764	C	T	92941764	5	4	286	1	0	0	0	0	0	0	1	0	6339	521	18	2	181	2	GFI1	1	92941764	Splice_Site	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08	57361003	92941764	156308857	2	4952											
MOV10	4343	broad.mit.edu	37	chr1	113234306	113234306	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgctaagggctatgacctgGagttaagtatggcgctgggg	17	7	0	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr1:113234306G>T	uc001eck.3	+	5	1126	c.856G>T	c.(856-858)Gag>Tag	p.E286*	MOV10_uc001ecl.2_Nonsense_Mutation_p.E286*|MOV10_uc001ecn.3_Nonsense_Mutation_p.E286*|MOV10_uc001ecm.3_Nonsense_Mutation_p.E226*|MOV10_uc009wgj.1_Nonsense_Mutation_p.E226*	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	286					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTATGACCTGGAGTTAAGTAT	0.557													66	79					0	0	1	0	0	T	113234306	G	T	113234306	4	4	286	1	0	0	0	0	0	1	0	0	9718	1175	41	4	874	4	MOV10	1	113234306	Nonsense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08	20292542	113234306	136016315	3	4953											
LRP2BP	55805	broad.mit.edu	37	chr4	186295505	186295505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgatcgtttaacaccTtttccttcataataagctct	3	10	3	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr4:186295505T>C	uc003ixj.2	-	3	1253	c.441A>G	c.(439-441)aaA>aaG	p.K147K	LRP2BP_uc003ixk.2_Silent_p.K121K	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	147						cytoplasm	protein binding	p.G146E(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GTTTAACACCTTTTCCTTCAT	0.383													3	132					0	0	1	0	0	C	186295505	T	C	186295505	2	2	286	1	0	0	0	0	0	0	0	1	8957	1606	56	3		3	LRP2BP	4	186295505	Silent	SNP	T	TCGA-EM-A3O8-01A-11D-A21Z-08		186295505	4858771	4	4954											
FOXP4	116113	broad.mit.edu	37	chr6	41557797	41557797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccccccgacctcggccGcagcccctgtcacccctcta	7	23	2	0			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr6:41557797G>A	uc003oql.3	+	10	1704	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	FOXP4_uc003oqm.3_Missense_Mutation_p.A414T|FOXP4_uc003oqn.3_Missense_Mutation_p.A403T	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	416					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.A403T(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GACCTCGGCCGCAGCCCCTGT	0.672													3	49					0	0	1	0	0	A	41557797	G	A	41557797	3	1	286	1	0	0	0	0	1	0	0	0	6029	1087	38	1	1284	1	FOXP4	6	41557797	Missense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		41557797	129557270	5	4955											
LRRC1	55227	broad.mit.edu	37	chr6	53769225	53769225	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagttgagcaacttgaatGcagacagaaataaattagtg	10	4	0	5			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr6:53769225G>T	uc003pcd.1	+	9	1476	c.955G>T	c.(955-957)Gca>Tca	p.A319S		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	319						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CAACTTGAATGCAGACAGAAA	0.289													3	82					0	0	1	0	0	T	53769225	G	T	53769225	3	4	286	1	0	0	0	0	1	0	0	0	8966	1319	46	4	993	4	LRRC1	6	53769225	Missense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08	12211428	53769225	117345842	6	4956											
BRAF	673	broad.mit.edu	37	chr7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacccactccatcgagattTcactgtagctagaccaaaat	7	12	1	2	rs121913377		TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr7:140453134T>C	uc003vwc.4	-	14	1862	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				43	66					0	0	1	0	0	C	140453134	T	C	140453134	3	2	286	1	0	0	0	0	1	0	0	0	1496	1792	62	3	515	3	BRAF	7	140453134	Missense_Mutation	SNP	T	TCGA-EM-A3O8-01A-11D-A21Z-08		140453134	18685529	7	4957											
IDO1	3620	broad.mit.edu	37	chr8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggtcatggagatgtccGtaaggtttggagattttctc	12	6	2	2			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr8:39775722G>A	uc003xnm.3	+	2	413	c.299G>A	c.(298-300)cGt>cAt	p.R100H		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	100					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GGAGATGTCCGTAAGGTTTGG	0.393													4	111					0	0	1	0	0	A	39775722	G	A	39775722	3	1	286	1	0	0	0	0	1	0	0	0	7501	1145	40	1	309	1	IDO1	8	39775722	Missense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		39775722	106588300	8	4958											
ATAD2	29028	broad.mit.edu	37	chr8	124361593	124361593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgtaaagcaggatctaTagaatctagcctgttcgtag	9	9	2	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr8:124361593T>C	uc003yqh.4	-	13	1846	c.1738A>G	c.(1738-1740)Ata>Gta	p.I580V	ATAD2_uc011lii.2_Missense_Mutation_p.I371V|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.I580V|Mir_548_uc022ban.1_5'Flank	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGGATCTATAGAATCTAGC	0.408													4	156					0	0	1	0	0	C	124361593	T	C	124361593	3	2	286	1	0	0	0	0	1	0	0	0	1071	1406	49	3	2494	3	ATAD2	8	124361593	Missense_Mutation	SNP	T	TCGA-EM-A3O8-01A-11D-A21Z-08	84585871	124361593	22002429	9	4959											
ZNF169	169841	broad.mit.edu	37	chr9	97063304	97063304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagaagccttatctgtgCcccaagtgtgggcgtgcatt	15	9	1	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr9:97063304C>T	uc004aum.1	+	4	1569	c.1464C>T	c.(1462-1464)tgC>tgT	p.C488C	ZNF169_uc022bki.1_Silent_p.C489C	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	488						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTTATCTGTGCCCCAAGTGTG	0.562													34	45					0	0	1	0	0	T	97063304	C	T	97063304	2	4	286	1	0	0	0	0	0	0	0	1	17739	747	26	2		2	ZNF169	9	97063304	Silent	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08		97063304	44150127	10	4960											
GBF1	8729	broad.mit.edu	37	chr10	104139192	104139192	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgccctttactgcaggGtaaaccaggaggggcagagg	16	9	0	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr10:104139192G>A	uc001kux.2	+	34	4936	c.4642_splice	c.e34+1	p.G1548_splice	GBF1_uc001kuy.2_Splice_Site_p.G1544_splice|GBF1_uc001kuz.2_Splice_Site_p.G1545_splice	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1548					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTACTGCAGGGTAAACCAGGA	0.582													3	55					0	0	1	0	0	A	104139192	G	A	104139192	5	1	286	1	0	0	0	0	0	0	1	0	6271	1275	44	2	4773	2	GBF1	10	104139192	Splice_Site	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		104139192	31395555	11	4961											
XRCC6	2547	broad.mit.edu	37	chr22	42052945	42052945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccctttgctgatgataaaAggaagatgccctttactgaa	8	8	0	4			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr22:42052945A>G	uc003bao.1	+	9	1400	c.1330A>G	c.(1330-1332)Agg>Ggg	p.R444G	XRCC6_uc003bap.1_Missense_Mutation_p.R403G|XRCC6_uc011apc.1_Missense_Mutation_p.R394G|XRCC6_uc003bar.2_Missense_Mutation_p.R444G	NM_001469	NP_001460	P12956	XRCC6_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.	444	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TGATGATAAAAGGAAGATGCC	0.418								Non-homologous end-joining					3	69					0	0	1	0	0	G	42052945	A	G	42052945	3	3	286	1	0	0	0	0	1	0	0	0	17454	63	3	3	1364	3	XRCC6	22	42052945	Missense_Mutation	SNP	A	TCGA-EM-A3O8-01A-11D-A21Z-08		42052945	9251621	12	4962											
MAGEE1	57692	broad.mit.edu	37	chrX	75648746	75648746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggaacacctccaggccGcccacttcctctgaggaacc	10	18	1	1			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chrX:75648746G>A	uc004ecm.2	+	0	701	c.423G>A	c.(421-423)ccG>ccA	p.P141P		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	141	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCAGGCCGCCCACTTCCT	0.677													3	50					0	0	1	0	0	A	75648746	G	A	75648746	2	1	286	1	0	0	0	0	0	0	0	1	9185	1074	38	1		1	MAGEE1	23	75648746	Silent	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		75648746	79621814	13	4963											
ECE1	1889	broad.mit.edu	37	chr1	21573852	21573852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagttgatggcgggtgccAaggtctgcaagggaaaagga	16	7	1	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:21573852A>G	uc001bek.2	-	8	1100	c.1025T>C	c.(1024-1026)tTg>tCg	p.L342S	ECE1_uc001bem.2_Missense_Mutation_p.L326S|ECE1_uc001bej.2_Missense_Mutation_p.L330S|ECE1_uc001bei.2_Missense_Mutation_p.L339S|ECE1_uc010odl.1_Missense_Mutation_p.L342S|ECE1_uc009vqa.1_Missense_Mutation_p.L342S	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	342					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGCGGGTGCCAAGGTCTGCAA	0.532													3	96					0	0	1	0	0	G	21573852	A	G	21573852	3	3	287	1	0	0	0	0	1	0	0	0	4889	131	5	3	1331	3	ECE1	1	21573852	Missense_Mutation	SNP	A	TCGA-EM-A3O9-01A-11D-A21Z-08		21573852	227676769	1	4964											
OR10K1	391109	broad.mit.edu	37	chr1	158436162	158436162	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctaattacacttcaagccaaGacaccctaatatctgtgtca	4	12	3	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:158436162G>A	uc010pij.2	+	0	811	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCAAGCCAAGACACCCTAAT	0.418													4	137					0	0	1	0	0	A	158436162	G	A	158436162	3	1	287	1	0	0	0	0	1	0	0	0	10913	942	33	2	813	2	OR10K1	1	158436162	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08	136862310	158436162	90814459	2	4965											
SPR	6697	broad.mit.edu	37	chr2	73115548	73115548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctctgcctgacttccaGcgtcctgaaggccttcccgg	10	16	1	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:73115548G>A	uc002sik.2	+	1	460	c.410G>A	c.(409-411)aGc>aAc	p.S137N		NM_003124	NP_003115	P35270	SPRE_HUMAN	Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.	137					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity			lung(4)|ovary(2)	6						CTGACTTCCAGCGTCCTGAAG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	102					0	0	1	0	0	A	73115548	G	A	73115548	3	1	287	1	0	0	0	0	1	0	0	0	15090	971	34	2	416	2	SPR	2	73115548	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		73115548	170083825	3	4966											
DNAH6	1768	broad.mit.edu	37	chr2	84811124	84811124	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaactatgtttccatttagaTtgaaagccttgaagatgagg	9	5	0	5			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:84811124T>A	uc010fgb.3	+	15	2367	c.2230_splice	c.e15-1	p.I744_splice	DNAH6_uc002soo.3_Splice_Site_p.I323_splice|DNAH6_uc002sop.3_Splice_Site_p.I323_splice	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	744	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCCATTTAGATTGAAAGCCTT	0.373													18	71					0	0	1	0	0	A	84811124	T	A	84811124	5	1	287	1	0	0	0	0	0	0	1	0	4605	1507	52	5	2285	5	DNAH6	2	84811124	Splice_Site	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	11695576	84811124	158388249	4	4967											
BAP1	8314	broad.mit.edu	37	chr3	52443600	52443600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgaaggtcgtagatcTcctccacttgcacccccttg	8	15	2	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:52443600T>C	uc003ddx.3	-	2	207	c.92A>G	c.(91-93)gAg>gGg	p.E31G	PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	31					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E31A(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTCGTAGATCTCCTCCACTTG	0.617			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							9	493					0	0	1	0	0	C	52443600	T	C	52443600	3	2	287	1	0	0	0	0	1	0	0	0	1311	1551	54	3	2157	3	BAP1	3	52443600	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		52443600	145578830	5	4968											
DCUN1D4	23142	broad.mit.edu	37	chr4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaggaaaaatctggccccTttttccagtttttcaccaat	5	10	2	0			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr4:52777312T>C	uc011bzo.2	+	8	831	c.824T>C	c.(823-825)cTt>cCt	p.L275P	DCUN1D4_uc003gze.3_Missense_Mutation_p.L231P|DCUN1D4_uc003gzf.3_Intron|DCUN1D4_uc011bzn.2_Missense_Mutation_p.L171P|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Intron	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383													3	156					0	0	1	0	0	C	52777312	T	C	52777312	3	2	287	1	0	0	0	0	1	0	0	0	4316	1609	56	3	726	3	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		52777312	138376964	6	4969											
PRDM9	56979	broad.mit.edu	37	chr5	23524563	23524563	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaactgctggtctggtaTggggatgaatacggccagga	16	6	1	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:23524563T>A	uc003jgo.3	+	9	1253	c.1071T>A	c.(1069-1071)taT>taA	p.Y357*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	357	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGTCTGGTATGGGGATGAAT	0.507										HNSCC(3;0.000094)			10	128					0	0	1	0	0	A	23524563	T	A	23524563	4	1	287	1	0	0	0	0	0	1	0	0	12463	1471	51	5	1105	5	PRDM9	5	23524563	Nonsense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		23524563	157390697	7	4970											
HEATR7B2	133558	broad.mit.edu	37	chr5	41065518	41065518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagttactttgtacttcataCatcacagagttgaaatcatg	6	7	3	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:41065518C>A	uc003jmj.4	-	3	766	c.276G>T	c.(274-276)atG>atT	p.M92I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.M92I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	92							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTACTTCATACATCACAGAGT	0.418													3	79					0	0	1	0	0	A	41065518	C	A	41065518	3	1	287	1	0	0	0	0	1	0	0	0	7035	478	17	4	4637	4	HEATR7B2	5	41065518	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	17540955	41065518	139849742	8	4971											
COL9A1	1297	broad.mit.edu	37	chr6	70964879	70964879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttgggcccagggagacCaggaattcctctagcacctt	10	13	1	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:70964879C>T	uc003pfg.4	-	22	1744	c.1585G>A	c.(1585-1587)Ggt>Agt	p.G529S	COL9A1_uc003pfe.4_Missense_Mutation_p.G102S|COL9A1_uc003pff.4_Missense_Mutation_p.G286S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	529	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGGAGACCAGGAATTCCT	0.423													33	218					0	0	1	0	0	T	70964879	C	T	70964879	3	4	287	1	0	0	0	0	1	0	0	0	3707	594	21	2	1244	2	COL9A1	6	70964879	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		70964879	100150188	9	4972											
ZBTB24	9841	broad.mit.edu	37	chr6	109787521	109787521	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctctcccgaggtagagagttGatatggctgtagctgaagaa	13	7	1	4			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109787521G>C	uc003ptl.1	-	6	1795	c.1627C>G	c.(1627-1629)Caa>Gaa	p.Q543E	MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.Q487E|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GTAGAGAGTTGATATGGCTGT	0.448													5	177					0	0	1	0	0	C	109787521	G	C	109787521	3	2	287	1	0	0	0	0	1	0	0	0	17528	1299	45	4	470	4	ZBTB24	6	109787521	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08	38822642	109787521	61327546	10	4973											
ZBTB24	9841	broad.mit.edu	37	chr6	109802299	109802299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggctcctctggtggaTtgctaaaaagtgattgtact	12	6	1	1	rs141429160		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109802299T>C	uc003ptl.1	-	1	1099	c.931A>G	c.(931-933)Atc>Gtc	p.I311V	ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.I311V|ZBTB24_uc010kdt.1_Non-coding_Transcript|ZBTB24_uc003ptm.3_Missense_Mutation_p.I311V	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTCTGGTGGATTGCTAAAAAG	0.458													7	268					0	0	1	0	0	C	109802299	T	C	109802299	3	2	287	1	0	0	0	0	1	0	0	0	17528	1493	52	3	1236	3	ZBTB24	6	109802299	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	14778	109802299	61312768	11	4974											
RMND1	55005	broad.mit.edu	37	chr6	151726916	151726916	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcttctcattcaggTgattccgcattagatctgtt	8	11	4	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:151726916T>G	uc003qoi.2	-	10	1436	c.1256A>C	c.(1255-1257)cAc>cCc	p.H419P	RMND1_uc011eeq.1_Missense_Mutation_p.H208P	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.	419										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCATTCAGGTGATTCCGCAT	0.373													10	43					0	0	1	0	0	G	151726916	T	G	151726916	3	3	287	1	0	0	0	0	1	0	0	0	13396	1696	59	5	101	5	RMND1	6	151726916	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	41924617	151726916	19388151	12	4975											
MEPCE	56257	broad.mit.edu	37	chr7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccggggacagcaccaccaGcagcagcaggcagccggagg	15	15	0	0			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:100028454G>C	uc003uuw.3	+	0	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	271							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647													5	289					0	0	1	0	0	C	100028454	G	C	100028454	3	2	287	1	0	0	0	0	1	0	0	0	9477	962	34	4	815	4	MEPCE	7	100028454	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		100028454	59110209	13	4976											
SFMBT2	57713	broad.mit.edu	37	chr10	7412244	7412244	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaagctgctttacatacgTgtttgaatgatgtgtgggga	12	6	0	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr10:7412244T>C	uc009xio.2	-	3	286	c.195_splice	c.e3+1	p.H65_splice	SFMBT2_uc001ijn.2_Splice_Site_p.H65_splice|SFMBT2_uc010qay.2_Splice_Site_p.H65_splice|SFMBT2_uc001ijo.2_Splice_Site_p.H65_splice	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	65					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTTACATACGTGTTTGAATGA	0.473													3	108					0	0	1	0	0	C	7412244	T	C	7412244	5	2	287	1	0	0	0	0	0	0	1	0	14158	1710	59	3	2566	3	SFMBT2	10	7412244	Splice_Site	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		7412244	128122503	14	4977											
OR51M1	390059	broad.mit.edu	37	chr11	5410737	5410737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggattggaaggcatcaaaCactggattttcatccccttt	8	10	2	0			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:5410737C>T	uc010qzc.2	+	0	131	c.109C>T	c.(109-111)Cac>Tac	p.H37Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	37						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATCAAACACTGGATTTT	0.423													10	144					0	0	1	0	0	T	5410737	C	T	5410737	3	4	287	1	0	0	0	0	1	0	0	0	11103	478	17	2	111	2	OR51M1	11	5410737	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		5410737	129595779	15	4978											
GRIA4	2893	broad.mit.edu	37	chr11	105795388	105795388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagaagagccagaggaCggaaaggaaggacccagcga	14	10	0	3			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:105795388C>T	uc001pix.2	+	11	2186	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	GRIA4_uc001piw.2_Silent_p.D580D	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	580					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGCCAGAGGACGGAAAGGAAG	0.473													9	53					0	0	1	0	0	T	105795388	C	T	105795388	2	4	287	1	0	0	0	0	0	0	0	1	6770	535	19	1		1	GRIA4	11	105795388	Silent	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	100384651	105795388	29211128	16	4979											
HSP90B1	7184	broad.mit.edu	37	chr12	104336889	104336889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagcgacttctgaaaaAgggctatgaagttatttacc	10	6	1	3			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr12:104336889A>G	uc001tkb.1	+	12	1787	c.1682A>G	c.(1681-1683)aAg>aGg	p.K561R	HSP90B1_uc010swg.1_Missense_Mutation_p.K226R|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	561					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAAAAAGGGCTATGAA	0.418													4	223					0	0	1	0	0	G	104336889	A	G	104336889	3	3	287	1	0	0	0	0	1	0	0	0	7403	72	3	3	1732	3	HSP90B1	12	104336889	Missense_Mutation	SNP	A	TCGA-EM-A3O9-01A-11D-A21Z-08		104336889	29515006	17	4980											
BTBD7	55727	broad.mit.edu	37	chr14	93717850	93717850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggagggcttgactggTtgctgctgatctgctggtgg	17	7	1	3			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr14:93717850T>C	uc001ybo.3	-	7	2227	c.1901A>G	c.(1900-1902)aAc>aGc	p.N634S	BTBD7_uc010aur.3_Missense_Mutation_p.N159S|BTBD7_uc010two.2_Missense_Mutation_p.N454S|BTBD7_uc001ybp.3_Missense_Mutation_p.N283S	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	634										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTGACTGGTTGCTGCTGAT	0.418													40	239					0	0	1	0	0	C	93717850	T	C	93717850	3	2	287	1	0	0	0	0	1	0	0	0	1546	1725	60	3	1513	3	BTBD7	14	93717850	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		93717850	13631690	18	4981											
SRRM2	23524	broad.mit.edu	37	chr16	2807800	2807800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtcacggagactcaccaGttggcagaattaaatgagaa	12	7	2	3			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:2807800G>T	uc002crk.3	+	3	918	c.369G>T	c.(367-369)caG>caT	p.Q123H	SRRM2_uc002crj.1_Missense_Mutation_p.Q27H|SRRM2_uc002crl.1_Missense_Mutation_p.Q123H|SRRM2_uc010bsu.1_Missense_Mutation_p.Q27H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	123						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGACTCACCAgttggcagaat	0.443													42	97					0	0	1	0	0	T	2807800	G	T	2807800	3	4	287	1	0	0	0	0	1	0	0	0	15168	1020	36	4	379	4	SRRM2	16	2807800	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		2807800	87546953	19	4982											
ZNF267	10308	broad.mit.edu	37	chr16	31925925	31925925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaagaaaaaggtggaaaAgggaggagtgtgaagggcac	16	2	0	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:31925925A>G	uc002ecs.4	+	3	564	c.355A>G	c.(355-357)Agg>Ggg	p.R119G		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	119					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGGTGGAAAAGGGAGGAGTG	0.378													3	142					0	0	1	0	0	G	31925925	A	G	31925925	3	3	287	1	0	0	0	0	1	0	0	0	17803	63	3	3	369	3	ZNF267	16	31925925	Missense_Mutation	SNP	A	TCGA-EM-A3O9-01A-11D-A21Z-08	29118125	31925925	58428828	20	4983											
CDK12	51755	broad.mit.edu	37	chr17	37682293	37682293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatccatcagtgccctgacgGaagctacttcccagcagcag	9	14	1	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr17:37682293G>A	uc010cvv.3	+	12	4070	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	CDK12_uc010wef.1_Missense_Mutation_p.E1161K|CDK12_uc002hrw.4_Missense_Mutation_p.E1162K	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1162					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGCCCTGACGGAAGCTACTTC	0.567			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			12	38					0	0	1	0	0	A	37682293	G	A	37682293	3	1	287	1	0	0	0	0	1	0	0	0	3128	1175	41	2	3534	2	CDK12	17	37682293	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		37682293	43512917	21	4984											
OR10H2	26538	broad.mit.edu	37	chr19	15839268	15839268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacgtgctcatgagcccaCggggctgcgcctgcctggtg	14	14	1	1			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:15839268C>T	uc002nbm.2	+	0	435	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAGCCCACGGGGCTGCGC	0.637													4	89					0	0	1	0	0	T	15839268	C	T	15839268	3	4	287	1	0	0	0	0	1	0	0	0	10906	527	19	1	417	1	OR10H2	19	15839268	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		15839268	43289715	22	4985											
MYBPC2	4606	broad.mit.edu	37	chr19	50940753	50940753	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtcaggatgcctctgggCagagtctagaaagcttcaag	12	11	4	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:50940753C>T	uc002psf.2	+	5	538	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	163					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGCCTCTGGGCAGAGTCTAGA	0.587													5	11					0	0	1	0	0	T	50940753	C	T	50940753	4	4	287	1	0	0	0	0	0	1	0	0	10012	711	25	2	509	2	MYBPC2	19	50940753	Nonsense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	35101485	50940753	8188230	23	4986											
RALGAPA2	57186	broad.mit.edu	37	chr20	20621386	20621386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattgatgagtgtctccagtGtgcaagggcccctggatgac	14	9	1	3			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr20:20621386G>T	uc002wrz.3	-	5	652	c.509C>A	c.(508-510)aCa>aAa	p.T170K	RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	170					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.T170T(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTCTCCAGTGTGCAAGGGCC	0.468													3	116					0	0	1	0	0	T	20621386	G	T	20621386	3	4	287	1	0	0	0	0	1	0	0	0	13014	1377	48	4	5248	4	RALGAPA2	20	20621386	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		20621386	42404134	24	4987											
MAGEB18	286514	broad.mit.edu	37	chrX	26157885	26157885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtaccagcaagtgcccaaCagtgatcctccacgctatga	9	13	0	2			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrX:26157885C>A	uc004dbq.2	+	1	970	c.783C>A	c.(781-783)aaC>aaA	p.N261K	MAGEB18_uc022bub.1_Missense_Mutation_p.N261K	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	261	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGTGCCCAACAGTGATCCTC	0.488													3	44					0	0	1	0	0	A	26157885	C	A	26157885	3	1	287	1	0	0	0	0	1	0	0	0	9175	477	17	4	785	4	MAGEB18	23	26157885	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		26157885	129112675	25	4988											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			99	116					0	0	1	0	0	T	115256530	G	T	115256530	3	4	288	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		115256530	133994091	1	4989											
S100A7	6278	broad.mit.edu	37	chr1	153430375	153430375	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggacagaaactcagaaaaAtcaatcttcttatcctcatt	4	9	5	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr1:153430375A>C	uc001fbv.1	-	2	284	c.213T>G	c.(211-213)gaT>gaG	p.D71E		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	71	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCAGAAAAATCAATCTTCT	0.473													4	118					0	0	1	0	0	C	153430375	A	C	153430375	3	2	288	1	0	0	0	0	1	0	0	0	13783	98	4	5	96	5	S100A7	1	153430375	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	38173845	153430375	95820246	2	4990											
DNAH1	25981	broad.mit.edu	37	chr3	52391973	52391973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcagacaaaggaccccaCggccgtgcagccacacctgc	11	17	0	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr3:52391973C>T	uc011bef.2	+	23	4301	c.4040C>T	c.(4039-4041)aCg>aTg	p.T1347M		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1347	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGGACCCCACGGCCGTGCAG	0.622													3	54					0	0	1	0	0	T	52391973	C	T	52391973	3	4	288	1	0	0	0	0	1	0	0	0	4597	536	19	1	4130	1	DNAH1	3	52391973	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08		52391973	145630457	3	4991											
PDZRN3	23024	broad.mit.edu	37	chr3	73453315	73453315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactcctctggcaagagatAgggatccagcacgggtgggc	14	10	1	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr3:73453315A>G	uc003dpl.1	-	3	1246	c.1150T>C	c.(1150-1152)Tat>Cat	p.Y384H	PDZRN3_uc011bgh.1_Missense_Mutation_p.Y41H|PDZRN3_uc010hoe.1_Missense_Mutation_p.Y82H|PDZRN3_uc011bgf.1_Missense_Mutation_p.Y101H|PDZRN3_uc011bgg.1_Missense_Mutation_p.Y104H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	384							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGCAAGAGATAGGGATCCAGC	0.458													3	96					0	0	1	0	0	G	73453315	A	G	73453315	3	3	288	1	0	0	0	0	1	0	0	0	11709	420	15	3	2078	3	PDZRN3	3	73453315	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	21061342	73453315	124569115	4	4992											
ANK2	287	broad.mit.edu	37	chr4	114264269	114264269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcagtttttttgccttcAaagaaaatagacttcctcta	4	8	3	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr4:114264269A>G	uc003ibe.4	+	33	4319	c.4219A>G	c.(4219-4221)Aaa>Gaa	p.K1407E	ANK2_uc003ibd.4_Missense_Mutation_p.K1398E|ANK2_uc003ibf.4_Missense_Mutation_p.K1407E|ANK2_uc011cgc.2_Missense_Mutation_p.K583E|ANK2_uc003ibg.4_Missense_Mutation_p.K402E|ANK2_uc003ibh.4_Missense_Mutation_p.K81E|ANK2_uc011cgb.1_Missense_Mutation_p.K1422E	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1374					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTTGCCTTCAAAGAAAATAG	0.338													30	46					0	0	1	0	0	G	114264269	A	G	114264269	3	3	288	1	0	0	0	0	1	0	0	0	621	131	5	3	4418	3	ANK2	4	114264269	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		114264269	76890007	5	4993											
LRRTM2	26045	broad.mit.edu	37	chr5	138209408	138209408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttatccatgaggagtAttttaagattgggcatcgtt	11	4	0	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr5:138209408A>G	uc011cyz.1	-	1	1299	c.842T>C	c.(841-843)aTa>aCa	p.I281T	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Missense_Mutation_p.I147T|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	281						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGAGGAGTATTTTAAGATT	0.438													8	271					0	0	1	0	0	G	138209408	A	G	138209408	3	3	288	1	0	0	0	0	1	0	0	0	9040	449	16	3	712	3	LRRTM2	5	138209408	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		138209408	42705852	6	4994											
VNN2	8875	broad.mit.edu	37	chr6	133073823	133073823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccaaaccttccaaatgcGgtgttgaaagtcaccaactc	7	12	1	1	rs141716354		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr6:133073823G>A	uc003qdt.3	-	3	614	c.603C>T	c.(601-603)acC>acT	p.T201T	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Silent_p.T148T	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	201	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCCAAATGCGGTGTTGAAAG	0.428													27	209					0	0	1	0	0	A	133073823	G	A	133073823	2	1	288	1	0	0	0	0	0	0	0	1	17180	1103	39	1		1	VNN2	6	133073823	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		133073823	38041244	7	4995											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161206	151161206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaggtcaagatatcccaCgtttgagatcaatacaaaaa	7	8	2	3	rs139978019	by1000genomes	TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr6:151161206C>T	uc011eem.1	+	15	3597	c.3509C>T	c.(3508-3510)aCg>aTg	p.T1170M	PLEKHG1_uc003qny.1_Missense_Mutation_p.T1111M	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	1111					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGATATCCCACGTTTGAGATC	0.483													35	47					0	0	1	0	0	T	151161206	C	T	151161206	3	4	288	1	0	0	0	0	1	0	0	0	12068	536	19	1	3390	1	PLEKHG1	6	151161206	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	18087383	151161206	19953861	8	4996											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126076	31126076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttcatcgagggcctgTacctcttcactctgctggtg	12	12	4	0			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr7:31126076T>C	uc003tcg.3	+	9	1037	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	ADCYAP1R1_uc003tce.2_Missense_Mutation_p.Y250H|ADCYAP1R1_uc003tca.2_Missense_Mutation_p.Y250H|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.Y229H|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.Y250H|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001199635	NP_001186564	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 1, mRNA.	250					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CGAGGGCCTGTACCTCTTCAC	0.532													3	44					0	0	1	0	0	C	31126076	T	C	31126076	3	2	288	1	0	0	0	0	1	0	0	0	303	1638	57	3	782	3	ADCYAP1R1	7	31126076	Missense_Mutation	SNP	T	TCGA-EM-A3OA-01A-11D-A21Z-08		31126076	128012587	9	4997											
RELN	5649	broad.mit.edu	37	chr7	103197509	103197509	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acattgatgaaaagtatattCgttgtttgaggaaagtaaaa	9	2	0	3			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr7:103197509C>A	uc022ajr.1	-	37	5872	c.5712G>T	c.(5710-5712)acG>acT	p.T1904T	RELN_uc022ajq.1_Silent_p.T1904T|RELN_uc010liz.3_Silent_p.T1904T	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1904					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAGTATATTCGTTGTTTGAG	0.403													4	181					0	0	1	0	0	A	103197509	C	A	103197509	2	1	288	1	0	0	0	0	0	0	0	1	13220	871	31	4		4	RELN	7	103197509	Silent	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	72071433	103197509	55941154	10	4998											
RB1CC1	9821	broad.mit.edu	37	chr8	53580652	53580652	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctggtccagggcgtagagccGatcttcaagtcctttaatgg	12	10	2	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr8:53580652G>T	uc003xre.4	-	7	1660	c.1102C>A	c.(1102-1104)Cgg>Agg	p.R368R	RB1CC1_uc003xrf.4_Silent_p.R368R	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	368					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.R368R(2)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCGTAGAGCCGATCTTCAAGT	0.423													3	76					0	0	1	0	0	T	53580652	G	T	53580652	2	4	288	1	0	0	0	0	0	0	0	1	13099	1057	37	4		4	RB1CC1	8	53580652	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		53580652	92783370	11	4999											
COLEC10	10584	broad.mit.edu	37	chr8	120114630	120114630	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggaatacctggagaaaaAggcaaagcaggtacgatatg	12	6	0	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr8:120114630A>G	uc003yoo.3	+	3	433	c.336A>G	c.(334-336)aaA>aaG	p.K112K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	112	Collagen-like.					collagen|cytoplasm	mannose binding	p.K112K(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTGGAGAAAAAGGCAAAGCAG	0.294													3	88					0	0	1	0	0	G	120114630	A	G	120114630	2	3	288	1	0	0	0	0	0	0	0	1	3710	69	3	3		3	COLEC10	8	120114630	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	66533978	120114630	26249392	12	5000											
HSPA5	3309	broad.mit.edu	37	chr9	128001313	128001313	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaattcttgcttgatgctgAgaagacagggcccgtttggc	12	9	2	3			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr9:128001313A>G	uc004bpn.3	-	4	1164	c.903T>C	c.(901-903)tcT>tcC	p.S301S		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	301					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CTTGATGCTGAGAAGACAGGG	0.458										Prostate(1;0.17)			34	28					0	0	1	0	0	G	128001313	A	G	128001313	2	3	288	1	0	0	0	0	0	0	0	1	7414	291	11	3		3	HSPA5	9	128001313	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		128001313	13212118	13	5001											
COL5A1	1289	broad.mit.edu	37	chr9	137630645	137630645	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actggccaagtcggggacccTggagaaagggtaagaggttg	17	7	0	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr9:137630645T>A	uc004cfe.3	+	10	1867	c.1485T>A	c.(1483-1485)ccT>ccA	p.P495P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	495	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGGGGACCCTGGAGAAAGGG	0.577													4	139					0	0	1	0	0	A	137630645	T	A	137630645	2	1	288	1	0	0	0	0	0	0	0	1	3696	1567	55	5		5	COL5A1	9	137630645	Silent	SNP	T	TCGA-EM-A3OA-01A-11D-A21Z-08	9629332	137630645	3582786	14	5002											
JMJD1C	221037	broad.mit.edu	37	chr10	64973724	64973724	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagaggaaaaggatgctGgcttaggaaaggtgaaatat	15	2	0	3			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr10:64973724G>A	uc001jmn.3	-	7	2503	c.2203C>T	c.(2203-2205)Cag>Tag	p.Q735*	JMJD1C_uc001jml.3_Nonsense_Mutation_p.Q516*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.Q447*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.Q553*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.Q553*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Nonsense_Mutation_p.Q447*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	735					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAAGGATGCTGGCTTAGGAAA	0.418													18	93					0	0	1	0	0	A	64973724	G	A	64973724	4	1	288	1	0	0	0	0	0	1	0	0	7950	1357	47	2	5495	2	JMJD1C	10	64973724	Nonsense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		64973724	70561023	15	5003											
OR4X1	390113	broad.mit.edu	37	chr11	48286142	48286142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcctctcatgtcacaGttgtcgacctgttcttcata	7	13	4	0			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr11:48286142G>A	uc010rht.2	+	0	730	c.730G>A	c.(730-732)Gtt>Att	p.V244I		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCATGTCACAGTTGTCGACCT	0.517													12	150					0	0	1	0	0	A	48286142	G	A	48286142	3	1	288	1	0	0	0	0	1	0	0	0	11084	1029	36	2	732	2	OR4X1	11	48286142	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		48286142	86720374	16	5004											
TUBA3C	7278	broad.mit.edu	37	chr13	19751149	19751149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgcgttgacatctttcGggaccacatcccccctgtac	9	16	1	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr13:19751149G>A	uc009zzj.3	-	3	1079	c.974C>T	c.(973-975)cCg>cTg	p.P325L		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	325					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GACATCTTTCGGGACCACATC	0.542													4	164					0	0	1	0	0	A	19751149	G	A	19751149	3	1	288	1	0	0	0	0	1	0	0	0	16743	1116	39	1	386	1	TUBA3C	13	19751149	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		19751149	95418729	17	5005											
MPV17L	255027	broad.mit.edu	37	chr16	15490060	15490060	+	Frame_Shift_Del	DEL	T	T	-													atcgcggtctcggccttctaTgtcggtgaggggccgggagg							TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr16:15490060delT	uc002ddn.2	+	0	450	c.306delT	c.(304-306)tatfs	p.Y102fs	MPV17L_uc002ddm.2_Frame_Shift_Del_p.Y102fs	NM_001128423	NP_001121895	Q2QL34	MP17L_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like (MPV17L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	102						integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						CGGCCTTCTATGTCGGTGAGG	0.721													2	4	---	---	---	---						-	15490060	T	-	15490060	7	5	288	1	0	1	0	1	0	0	0	0	9746	1471	51	0	308	0	MPV17L	16	15490060	Frame_Shift_Del	DEL	T	TCGA-EM-A3OA-01A-11D-A21Z-08		15490060	74864693	18	5006											
ZNF785	146540	broad.mit.edu	37	chr16	30594124	30594124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggtgactgaggaggagGgaagaataggtgaagcggcg	20	6	0	4			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr16:30594124G>A	uc002dyw.2	-	2	1135	c.975C>T	c.(973-975)tcC>tcT	p.S325S	ZNF785_uc002dyu.3_Non-coding_Transcript|ZNF785_uc002dyv.2_Silent_p.S310S|ZNF785_uc010vez.2_Silent_p.S290S	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	Homo sapiens zinc finger protein 785 (ZNF785), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TGAGGAGGAGGGAAGAATAGG	0.642													8	76					0	0	1	0	0	A	30594124	G	A	30594124	2	1	288	1	0	0	0	0	0	0	0	1	18154	1219	43	2		2	ZNF785	16	30594124	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08	15104064	30594124	59760629	19	5007											
MFSD6L	162387	broad.mit.edu	37	chr17	8701591	8701591	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agacccacaggcttctgtatCggtcagtggcatccacaaaa	9	12	2	1			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr17:8701591C>G	uc002glp.2	-	0	1077	c.848G>C	c.(847-849)cGa>cCa	p.R283P		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	283						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCTTCTGTATCGGTCAGTGGC	0.592													10	99					0	0	1	0	0	G	8701591	C	G	8701591	3	3	288	1	0	0	0	0	1	0	0	0	9536	884	31	4	916	4	MFSD6L	17	8701591	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08		8701591	72493619	20	5008											
ASPSCR1	79058	broad.mit.edu	37	chr17	79952715	79952715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagtgcctgcagcacccCggcggggccaccccagtctg	15	16	1	0			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr17:79952715C>T	uc002kcy.3	+	4	490	c.393C>T	c.(391-393)ccC>ccT	p.P131P	ASPSCR1_uc002kcx.3_Silent_p.P131P|ASPSCR1_uc021ufj.1_Silent_p.P54P|ASPSCR1_uc002kda.3_Silent_p.P54P|ASPSCR1_uc002kdb.1_Silent_p.P54P	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	131							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCAGCACCCCGGCGGGGCCA	0.647			T	TFE3	alveolar soft part sarcoma								30	64					0	0	1	0	0	T	79952715	C	T	79952715	2	4	288	1	0	0	0	0	0	0	0	1	1059	639	23	1		1	ASPSCR1	17	79952715	Silent	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	71251124	79952715	1242495	21	5009											
DYRK1B	9149	broad.mit.edu	37	chr19	40318195	40318195	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccggtgtgcatctccacAaggatgcagcccagggacca	11	14	2	0			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr19:40318195A>G	uc002omj.3	-	6	1189	c.909T>C	c.(907-909)ctT>ctC	p.L303L	DYRK1B_uc002omi.3_Silent_p.L303L|DYRK1B_uc002omk.3_Silent_p.L303L	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	303	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCATCTCCACAAGGATGCAGC	0.627													3	64					0	0	1	0	0	G	40318195	A	G	40318195	2	3	288	1	0	0	0	0	0	0	0	1	4855	117	5	3		3	DYRK1B	19	40318195	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		40318195	18810788	22	5010											
CABP5	56344	broad.mit.edu	37	chr19	48537535	48537535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacctcagagatctcccGgggggtgagccgctccccca	12	16	2	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr19:48537535G>A	uc002phu.2	-	4	565	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	145	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GAGATCTCCCGGGGGGTGAGC	0.592													4	54					0	0	1	0	0	A	48537535	G	A	48537535	3	1	288	1	0	0	0	0	1	0	0	0	2534	1115	39	1	96	1	CABP5	19	48537535	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08	8219340	48537535	10591448	23	5011											
SNTA1	6640	broad.mit.edu	37	chr20	32026782	32026782	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtctggtcagctgccaAtcccttgaagatcttggaaa	9	11	4	2			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr20:32026782A>G	uc002wzd.1	-	1	633	c.361T>C	c.(361-363)Ttg>Ctg	p.L121L	SNTA1_uc010zuf.1_Silent_p.L121L	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	121	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TCAGCTGCCAATCCCTTGAAG	0.527													32	127					0	0	1	0	0	G	32026782	A	G	32026782	2	3	288	1	0	0	0	0	0	0	0	1	14871	98	4	3		3	SNTA1	20	32026782	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		32026782	30998738	24	5012											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			95	118					0	0	1	0	0	C	115256529	T	C	115256529	3	2	289	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08		115256529	133994092	1	5013											
UTP3	57050	broad.mit.edu	37	chr4	71555625	71555625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaatgcaaagagagctAttacctatcaaattgctaaa	5	7	2	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:71555625A>G	uc003hfo.3	+	0	1430	c.1231A>G	c.(1231-1233)Att>Gtt	p.I411V		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	411					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAAGAGAGCTATTACCTATCA	0.373													49	55					0	0	1	0	0	G	71555625	A	G	71555625	3	3	289	1	0	0	0	0	1	0	0	0	17098	449	16	3	1233	3	UTP3	4	71555625	Missense_Mutation	SNP	A	TCGA-EM-A3OB-01A-11D-A21Z-08		71555625	119598651	2	5014											
ADAMTS3	9508	broad.mit.edu	37	chr4	73178108	73178108	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaagtcctcaaagtgTttttggcattcttctgtgtt	9	8	4	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:73178108T>A	uc003hgk.2	-	12	1858	c.1821A>T	c.(1819-1821)aaA>aaT	p.K607N	ADAMTS3_uc003hgl.3_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	607					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTCAAAGTGTTTTTGGCATT	0.423													4	96					0	0	1	0	0	A	73178108	T	A	73178108	3	1	289	1	0	0	0	0	1	0	0	0	267	1722	60	5	1836	5	ADAMTS3	4	73178108	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08	1622483	73178108	117976168	3	5015											
PDE5A	8654	broad.mit.edu	37	chr4	120442128	120442128	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagagcagcaaacatgcactGagctgtattaaaggcatgtc	10	8	0	2			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:120442128G>T	uc003idh.3	-	12	2022	c.1867C>A	c.(1867-1869)Cag>Aag	p.Q623K	PDE5A_uc003idf.3_Missense_Mutation_p.Q581K|PDE5A_uc003idg.3_Missense_Mutation_p.Q571K|AF085995_uc003idi.4_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	623	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AACATGCACTGAGCTGTATTA	0.333													5	227					0	0	1	0	0	T	120442128	G	T	120442128	3	4	289	1	0	0	0	0	1	0	0	0	11644	1299	45	4	796	4	PDE5A	4	120442128	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08	47264020	120442128	70712148	4	5016											
DNAH5	1767	broad.mit.edu	37	chr5	13788939	13788939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaaacttactaaagcctTatcaaaccaggtcacatcac	3	13	3	0			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:13788939T>C	uc003jfd.2	-	50	8575	c.8533A>G	c.(8533-8535)Aag>Gag	p.K2845E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2845					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTAAAGCCTTATCAAACCAG	0.398									Kartagener syndrome				3	141					0	0	1	0	0	C	13788939	T	C	13788939	3	2	289	1	0	0	0	0	1	0	0	0	4604	1763	61	3	5457	3	DNAH5	5	13788939	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08		13788939	167126321	5	5017											
PCDHAC2	56134	broad.mit.edu	37	chr5	140209347	140209347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgcgccggc	15	12	0	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:140209347C>T	uc003lho.2	+	0	1698	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.D557D	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	571	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687													4	133					0	0	1	0	0	T	140209347	C	T	140209347	2	4	289	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140209347	Silent	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	126420408	140209347	40705913	6	5018											
LANCL2	55915	broad.mit.edu	37	chr7	55479606	55479606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtttaaagccggcaGcaaaagtggaccaagaaacc	10	8	0	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr7:55479606G>A	uc003tqp.3	+	5	1410	c.832G>A	c.(832-834)Gca>Aca	p.A278T		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	278					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AAAGCCGGCAGCAAAAGTGGA	0.348													3	93					0	0	1	0	0	A	55479606	G	A	55479606	3	1	289	1	0	0	0	0	1	0	0	0	8621	971	34	2	854	2	LANCL2	7	55479606	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		55479606	103659057	7	5019											
HAUS6	54801	broad.mit.edu	37	chr9	19058159	19058159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttgtacattttggggaGtagggctcaattctggtttg	13	5	2	0			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:19058159G>A	uc003znk.3	-	15	2859	c.2606C>T	c.(2605-2607)aCt>aTt	p.T869I	HAUS6_uc011lmz.2_Missense_Mutation_p.T589I|HAUS6_uc022bdv.1_Missense_Mutation_p.T733I|HAUS6_uc003znl.1_Missense_Mutation_p.T733I	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	869					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTTGGGGAGTAGGGCTCAA	0.423													4	228					0	0	1	0	0	A	19058159	G	A	19058159	3	1	289	1	0	0	0	0	1	0	0	0	6970	1029	36	2	269	2	HAUS6	9	19058159	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		19058159	122155272	8	5020											
C5	727	broad.mit.edu	37	chr9	123725972	123725972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggagatgtccatcaccGcatgagaggatccagatgat	12	9	1	4			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:123725972G>A	uc004bkv.3	-	33	4295	c.4265C>T	c.(4264-4266)gCg>gTg	p.A1422V		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1422					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCCATCACCGCATGAGAGGA	0.358													3	79					0	0	1	0	0	A	123725972	G	A	123725972	3	1	289	1	0	0	0	0	1	0	0	0	2280	1087	38	1	797	1	C5	9	123725972	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08	104667813	123725972	17487459	9	5021											
ANXA7	310	broad.mit.edu	37	chr10	75156277	75156277	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggtaggaacaaaatacCtgactagggtaagtaggttg	12	4	0	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr10:75156277C>A	uc001jtz.2	-	5	508	c.435_splice	c.e5+1	p.Q145_splice	ANXA7_uc001jua.2_Splice_Site_p.Q145_splice|ANXA7_uc010qki.1_Splice_Site_p.Q55_splice|ANXA7_uc009xre.3_Splice_Site_p.Q74_splice|ANXA7_uc009xrf.1_Splice_Site_p.Q87_splice	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	145							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					AACAAAATACCTGACTAGGGT	0.418													3	62					0	0	1	0	0	A	75156277	C	A	75156277	5	1	289	1	0	0	0	0	0	0	1	0	723	695	24	4	1071	4	ANXA7	10	75156277	Splice_Site	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		75156277	60378470	10	5022											
TSG101	7251	broad.mit.edu	37	chr11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtttctggtgacccTttttcaggtcttcttctgtt	7	11	5	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr11:18505466T>C	uc001mor.3	-	7	934	c.794A>G	c.(793-795)aAg>aGg	p.K265R		NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438													4	428					0	0	1	0	0	C	18505466	T	C	18505466	3	2	289	1	0	0	0	0	1	0	0	0	16613	1609	56	3	390	3	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08		18505466	116501050	11	5023											
PHLDB1	23187	broad.mit.edu	37	chr11	118512834	118512834	+	Frame_Shift_Del	DEL	T	T	-													tttccctgatgtggccttccTttttaaccttccccttcctt							TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr11:118512834delT	uc010ryj.1	+	0	78	c.13delT	c.(13-15)tttfs	p.F5fs	PHLDB1_uc001ptr.2_Intron|PHLDB1_uc001pts.3_Intron|PHLDB1_uc001ptt.3_Intron|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Intron|PHLDB1_uc001ptw.2_Intron|PHLDB1_uc009zai.2_Intron|PHLDB1_uc001ptx.2_Intron|PHLDB1_uc010ryi.1_Intron			Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 2, mRNA.	0										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTGGCCTTCCTTTTTAAcctt	0.473													2	4	---	---	---	---						-	118512834	T	-	118512834	7	5	289	1	0	1	0	1	0	0	0	0	11851	1624	56	0		0	PHLDB1	11	118512834	Frame_Shift_Del	DEL	T	TCGA-EM-A3OB-01A-11D-A21Z-08	100007368	118512834	16493682	12	5024											
AMDHD1	144193	broad.mit.edu	37	chr12	96354366	96354366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggttacagattaacttcCatggggatgaactccacccg	10	10	0	2			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr12:96354366C>T	uc001tel.2	+	4	884	c.778C>T	c.(778-780)Cat>Tat	p.H260Y	AMDHD1_uc009zth.2_Missense_Mutation_p.H151Y	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	260					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GATTAACTTCCATGGGGATGA	0.423													11	125					0	0	1	0	0	T	96354366	C	T	96354366	3	4	289	1	0	0	0	0	1	0	0	0	567	594	21	2	796	2	AMDHD1	12	96354366	Missense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		96354366	37497529	13	5025											
WRAP53	55135	broad.mit.edu	37	chr17	7604998	7604998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgacggcagcccattcGctctgcttctccccggatgg	12	15	2	1	rs34740153		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:7604998G>A	uc010vuh.2	+	6	1001	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WRAP53_uc010vui.2_Silent_p.S282S|WRAP53_uc002gip.3_Silent_p.S282S|WRAP53_uc002gir.3_Silent_p.S282S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S249S|WRAP53_uc010vuj.2_Silent_p.S63S	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	282					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGCCCATTCGCTCTGCTTCT	0.622													24	28					0	0	1	0	0	A	7604998	G	A	7604998	2	1	289	1	0	0	0	0	0	0	0	1	17397	1074	38	1		1	WRAP53	17	7604998	Silent	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		7604998	73590212	14	5026											
MYO15A	51168	broad.mit.edu	37	chr17	18023164	18023164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccctatgcgccgtacgaCgcgccatacccaccctatga	8	17	0	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:18023164C>T	uc021trm.1	+	0	1269	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	MYO15A_uc021trl.1_Silent_p.D350D	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	350	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCCGTACGACGCGCCATACC	0.607													10	180					0	0	1	0	0	T	18023164	C	T	18023164	2	4	289	1	0	0	0	0	0	0	0	1	10063	535	19	1		1	MYO15A	17	18023164	Silent	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	10418166	18023164	63172046	15	5027											
OTOP3	347741	broad.mit.edu	37	chr17	72945406	72945406	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctagaaaaggatttctaCggctaccagatatggttcgc	12	8	1	2			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:72945406C>A	uc010wrr.2	+	6	1686	c.1686C>A	c.(1684-1686)taC>taA	p.Y562*	OTOP3_uc010wrq.2_Nonsense_Mutation_p.Y544*	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	562						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGATTTCTACGGCTACCAGA	0.567													3	125					0	0	1	0	0	A	72945406	C	A	72945406	4	1	289	1	0	0	0	0	0	1	0	0	11307	547	19	4	1712	4	OTOP3	17	72945406	Nonsense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	54922242	72945406	8249804	16	5028											
MYOM1	8736	broad.mit.edu	37	chr18	3187546	3187546	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattctccttctcccaaacCgtgtgggagcgaggtttaat	9	11	2	0			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr18:3187546C>A	uc002klp.3	-	4	1195	c.861G>T	c.(859-861)acG>acT	p.T287T	MYOM1_uc002klq.3_Silent_p.T287T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	287	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTCCCAAACCGTGTGGGAGC	0.428													5	127					0	0	1	0	0	A	3187546	C	A	3187546	2	1	289	1	0	0	0	0	0	0	0	1	10091	639	23	4		4	MYOM1	18	3187546	Silent	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		3187546	74889702	17	5029											
COL5A3	50509	broad.mit.edu	37	chr19	10114264	10114264	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctctgcggagtcaggagGtggacttgaggtccaaattt	14	7	2	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr19:10114264G>T	uc002mmq.1	-	5	912	c.826C>A	c.(826-828)Cct>Act	p.P276T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	276	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGTCAGGAGGTGGACTTGAG	0.557											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	107					0	0	1	0	0	T	10114264	G	T	10114264	3	4	289	1	0	0	0	0	1	0	0	0	3698	1261	44	4	4659	4	COL5A3	19	10114264	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		10114264	49014719	18	5030											
DEFB119	245932	broad.mit.edu	37	chr20	29976952	29976952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgactaggaacacagcacCgtttacgatttcggcagcgt	10	11	0	0			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:29976952C>T	uc002wvu.1	-	1	263	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	54					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AACACAGCACCGTTTACGATT	0.458													3	151					0	0	1	0	0	T	29976952	C	T	29976952	3	4	289	1	0	0	0	0	1	0	0	0	4407	652	23	1	369	1	DEFB119	20	29976952	Missense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		29976952	33048568	19	5031											
ZNFX1	57169	broad.mit.edu	37	chr20	47865945	47865945	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagaaaacccaccttgcCttcttggttgctccgcacta	7	15	1	1			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:47865945C>G	uc002xui.3	-	13	3863	c.3616G>C	c.(3616-3618)Ggc>Cgc	p.G1206R		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1206							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCACCTTGCCTTCTTGGTTG	0.522													4	205					0	0	1	0	0	G	47865945	C	G	47865945	3	3	289	1	0	0	0	0	1	0	0	0	18202	681	24	4	2144	4	ZNFX1	20	47865945	Missense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	17888993	47865945	15159575	20	5032											
IQSEC2	23096	broad.mit.edu	37	chrX	53268422	53268422	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catttccacgagggggaaagActgacggaaactgtacgtca	12	9	1	2			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:53268422A>T	uc004dsd.3	-	10	3271	c.3070T>A	c.(3070-3072)Tct>Act	p.S1024T	IQSEC2_uc004dsc.3_Missense_Mutation_p.S819T	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	1014	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGGGGAAAGACTGACGGAAA	0.512											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	41					0	0	1	0	0	T	53268422	A	T	53268422	3	4	289	1	0	0	0	0	1	0	0	0	7818	275	10	5	1416	5	IQSEC2	23	53268422	Missense_Mutation	SNP	A	TCGA-EM-A3OB-01A-11D-A21Z-08		53268422	102002138	21	5033											
RAB39B	116442	broad.mit.edu	37	chrX	154490295	154490295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaatgtacttcatgccGtatgcagcagccagtttctc	8	11	3	0			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:154490295G>A	uc004fne.3	-	1	714	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	145					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTCATGCCGTATGCAGCAG	0.498													4	96					0	0	1	0	0	A	154490295	G	A	154490295	2	1	289	1	0	0	0	0	0	0	0	1	12930	1140	40	1		1	RAB39B	23	154490295	Silent	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08	101221873	154490295	780265	22	5034											
PKN2	5586	broad.mit.edu	37	chr1	89273120	89273120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtattcaagaacttgaggAcagaaggtaaagaatatata	10	3	1	4			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr1:89273120A>G	uc001dmn.3	+	12	2270	c.1928A>G	c.(1927-1929)gAc>gGc	p.D643G	PKN2_uc010osp.2_Missense_Mutation_p.D627G|PKN2_uc010osq.2_Missense_Mutation_p.D486G|PKN2_uc009wcv.3_Missense_Mutation_p.D595G|PKN2_uc010osr.2_Missense_Mutation_p.D308G	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	643					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAACTTGAGGACAGAAGGTAA	0.333													5	89					0	0	1	0	0	G	89273120	A	G	89273120	3	3	290	1	0	0	0	0	1	0	0	0	11980	275	10	3	1978	3	PKN2	1	89273120	Missense_Mutation	SNP	A	TCGA-EM-A4FK-01A-11D-A257-08		89273120	159977501	1	5035											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			66	107					0	0	1	0	0	C	115256529	T	C	115256529	3	2	290	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08	25983409	115256529	133994092	2	5036											
HMCN1	83872	broad.mit.edu	37	chr1	185834992	185834992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaaaaaacaagttaaTgaggtcagtttaataaaggg	10	4	1	1			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr1:185834992T>C	uc001grq.1	+	3	847	c.618T>C	c.(616-618)aaT>aaC	p.N206N		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	206	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACAAGTTAATGAGGTCAGTT	0.353													10	19					0	0	1	0	0	C	185834992	T	C	185834992	2	2	290	1	0	0	0	0	0	0	0	1	7220	1461	51	3		3	HMCN1	1	185834992	Silent	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08	70578463	185834992	63415629	3	5037											
TNXB	7148	broad.mit.edu	37	chr6	32015643	32015643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggctgccaccggcaccaCctggagccgaccatccttat	10	16	0	0			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr6:32015643C>T	uc003nzl.2	-	29	10388	c.10186G>A	c.(10186-10188)Gtg>Atg	p.V3396M	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3443					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCGGCACCACCTGGAGCCGA	0.612													10	14					0	0	1	0	0	T	32015643	C	T	32015643	3	4	290	1	0	0	0	0	1	0	0	0	16343	507	18	2	4587	2	TNXB	6	32015643	Missense_Mutation	SNP	C	TCGA-EM-A4FK-01A-11D-A257-08		32015643	139099424	4	5038											
DCHS1	8642	broad.mit.edu	37	chr11	6653563	6653563	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgggcctcacggtcTagtgctgcccgcacccatag	10	15	2	0			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr11:6653563T>G	uc001mem.1	-	5	3581	c.3180A>C	c.(3178-3180)ctA>ctC	p.L1060L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1060	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCACGGTCTAGTGCTGCCC	0.592													18	29					0	0	1	0	0	G	6653563	T	G	6653563	2	3	290	1	0	0	0	0	0	0	0	1	4287	1509	53	5		5	DCHS1	11	6653563	Silent	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08		6653563	128352953	5	5039											
ANKRD11	29123	broad.mit.edu	37	chr16	89345698	89345698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgatggcgtccacgaTggcggccagcgtctgctgga	15	12	1	1			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr16:89345698T>C	uc002fmx.1	-	8	7713	c.7252A>G	c.(7252-7254)Atc>Gtc	p.I2418V	ANKRD11_uc002fmy.1_Missense_Mutation_p.I2418V|ANKRD11_uc002fnc.1_Missense_Mutation_p.I2418V|ANKRD11_uc002fna.1_Missense_Mutation_p.I83V|ANKRD11_uc002fnb.1_Missense_Mutation_p.I2375V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2418						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTCCACGATGGCGGCCAGC	0.617													7	17					0	0	1	0	0	C	89345698	T	C	89345698	3	2	290	1	0	0	0	0	1	0	0	0	639	1464	51	3	759	3	ANKRD11	16	89345698	Missense_Mutation	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08		89345698	1009055	6	5040											
RBM12	10137	broad.mit.edu	37	chr20	34241438	34241438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttttttacggtgtaagcGttcagacttacgtgcatcat	9	7	2	1			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr20:34241438G>A	uc002xdq.3	-	2	2079	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xds.3_Missense_Mutation_p.R603C|RBM12_uc002xdr.3_Missense_Mutation_p.R603C|RBM12_uc021wcq.1_Missense_Mutation_p.R603C|RBM12_uc021wcr.1_Missense_Mutation_p.R603C	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	603						nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CGGTGTAAGCGTTCAGACTTA	0.398													54	95					0	0	1	0	0	A	34241438	G	A	34241438	3	1	290	1	0	0	0	0	1	0	0	0	13113	1145	40	1	995	1	RBM12	20	34241438	Missense_Mutation	SNP	G	TCGA-EM-A4FK-01A-11D-A257-08		34241438	28784082	7	5041											
SENP2	59343	broad.mit.edu	37	chr3	185337150	185337150	+	Frame_Shift_Del	DEL	C	C	-													agcaaggctatccagcacttCatgtattcagtactttcttc							TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr3:185337150delC	uc003fpn.3	+	12	1477	c.1306delC	c.(1306-1308)catfs	p.H436fs	SENP2_uc011brv.2_Frame_Shift_Del_p.H426fs|SENP2_uc011brw.2_Frame_Shift_Del_p.H249fs	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	436	Protease.				Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCAGCACTTCATGTATTCAG	0.373													26	34	---	---	---	---						-	185337150	C	-	185337150	7	5	291	1	0	1	0	1	0	0	0	0	14047	826	29	0	1356	0	SENP2	3	185337150	Frame_Shift_Del	DEL	C	TCGA-EM-A4FM-01A-11D-A257-08		185337150	12685280	1	5042											
PLEKHG4B	153478	broad.mit.edu	37	chr5	156214	156214	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgagttaattgaccagcatgAgacgatgatgaagcttgtcc	11	8	0	4			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:156214A>T	uc003jak.2	+	7	1219	c.1169A>T	c.(1168-1170)gAg>gTg	p.E390V		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	390					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACCAGCATGAGACGATGATG	0.582													26	46					0	0	1	0	0	T	156214	A	T	156214	3	4	291	1	0	0	0	0	1	0	0	0	12072	304	11	5	1199	5	PLEKHG4B	5	156214	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		156214	180759046	2	5043											
PCDHAC2	56134	broad.mit.edu	37	chr5	140237165	140237165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctacgtgtcggtgcacgCggagagcggcaaggtgtacg	18	9	0	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:140237165C>T	uc003lhx.2	+	0	1532	c.1532C>T	c.(1531-1533)gCg>gTg	p.A511V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A511V|PCDHAC2_uc011dad.2_Missense_Mutation_p.A511V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	526	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGCACGCGGAGAGCGGC	0.701													40	91					0	0	1	0	0	T	140237165	C	T	140237165	3	4	291	1	0	0	0	0	1	0	0	0	11533	768	27	1		1	PCDHAC2	5	140237165	Missense_Mutation	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08	140080951	140237165	40678095	3	5044											
TULP1	7287	broad.mit.edu	37	chr6	35473554	35473554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctcccctcctcgggacAgattggtagggtcgatggag	13	10	1	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:35473554A>G	uc003okv.4	-	10	1088	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	TULP1_uc003okw.4_Missense_Mutation_p.L306P|TULP1_uc021yyx.1_Missense_Mutation_p.L359P|TULP1_uc021yyy.1_Missense_Mutation_p.L358P	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	359					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCGGGACAGATTGGTAGG	0.577													24	26					0	0	1	0	0	G	35473554	A	G	35473554	3	3	291	1	0	0	0	0	1	0	0	0	16770	188	7	3	572	3	TULP1	6	35473554	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		35473554	135641513	4	5045											
PKHD1	5314	broad.mit.edu	37	chr6	51892687	51892687	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtgaggtactggatgtggaGatcaaccctacagaagatag	13	6	1	4			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:51892687G>A	uc003pah.1	-	30	3844	c.3568C>T	c.(3568-3570)Ctc>Ttc	p.L1190F	PKHD1_uc003pai.3_Missense_Mutation_p.L1190F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1190	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGATGTGGAGATCAACCCTA	0.443													17	13					0	0	1	0	0	A	51892687	G	A	51892687	3	1	291	1	0	0	0	0	1	0	0	0	11971	942	33	2	8843	2	PKHD1	6	51892687	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	16419133	51892687	119222380	5	5046											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	53					0	0	1	0	0	T	140453136	A	T	140453136	3	4	291	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		140453136	18685527	6	5047											
RGR	5995	broad.mit.edu	37	chr10	86014089	86014089	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctctccctgtagaaacttcAccagcttcctcttcaccatg	5	16	4	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr10:86014089A>T	uc001kdd.1	+	4	570	c.532A>T	c.(532-534)Acc>Tcc	p.T178S	RGR_uc001kdc.1_Missense_Mutation_p.T174S|RGR_uc001kde.1_Missense_Mutation_p.T174S	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	174					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TAGAAACTTCACCAGCTTCCT	0.552													32	45					0	0	1	0	0	T	86014089	A	T	86014089	3	4	291	1	0	0	0	0	1	0	0	0	13291	159	6	5	550	5	RGR	10	86014089	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		86014089	49520658	7	5048											
LRFN4	78999	broad.mit.edu	37	chr11	66626537	66626537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccaaatccagtacaacaGcagcgaagatgagaccctca	8	12	1	2			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:66626537G>A	uc001ojr.3	+	0	1662	c.1322G>A	c.(1321-1323)aGc>aAc	p.S441N	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	441	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						CAGTACAACAGCAGCGAAGAT	0.662													30	60					0	0	1	0	0	A	66626537	G	A	66626537	3	1	291	1	0	0	0	0	1	0	0	0	8940	971	34	2	1324	2	LRFN4	11	66626537	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		66626537	68379979	8	5049											
PCSK7	9159	broad.mit.edu	37	chr11	117094847	117094847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgtagttgcagttgtcgTtgtgttggcctccgttgcca	12	10	0	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:117094847T>C	uc001pqr.3	-	7	1202	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	334	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCAGTTGTCGTTGTGTTGGCC	0.547			T	IGH@	MLCLS								4	56					0	0	1	0	0	C	117094847	T	C	117094847	3	2	291	1	0	0	0	0	1	0	0	0	11605	1725	60	3	1396	3	PCSK7	11	117094847	Missense_Mutation	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08	50468310	117094847	17911669	9	5050											
CEP152	22995	broad.mit.edu	37	chr15	49081163	49081163	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgcttcaagctttcCagagccatttcagttgttct	8	11	3	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr15:49081163C>A	uc001zwz.3	-	8	1201	c.1008G>T	c.(1006-1008)ctG>ctT	p.L336L	CEP152_uc001zwy.3_Silent_p.L336L|CEP152_uc001zxa.2_Silent_p.L243L	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	336					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCAAGCTTTCCAGAGCCATTT	0.413													33	62					0	0	1	0	0	A	49081163	C	A	49081163	2	1	291	1	0	0	0	0	0	0	0	1	3248	581	21	4		4	CEP152	15	49081163	Silent	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08		49081163	53450229	10	5051											
SETD1A	9739	broad.mit.edu	37	chr16	30991489	30991489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcggggctgactggctcaAcgacactcactgggtccatc	12	13	2	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:30991489A>G	uc002ead.1	+	13	5068	c.4382A>G	c.(4381-4383)aAc>aGc	p.N1461S		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1461	Interaction with ASH2L, RBBP5 and WDR5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GACTGGCTCAACGACACTCAC	0.612													9	18					0	0	1	0	0	G	30991489	A	G	30991489	3	3	291	1	0	0	0	0	1	0	0	0	14130	43	2	3	4432	3	SETD1A	16	30991489	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		30991489	59363264	11	5052											
CDYL2	124359	broad.mit.edu	37	chr16	80638351	80638351	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcctttggaggagctccaGagctgcttgagcatgaggca	15	9	0	3			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:80638351G>C	uc002ffs.3	-	6	1560	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	485						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGGAGCTCCAGAGCTGCTTGA	0.547													38	85					0	0	1	0	0	C	80638351	G	C	80638351	2	2	291	1	0	0	0	0	0	0	0	1	3186	929	33	4		4	CDYL2	16	80638351	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	49646862	80638351	9716402	12	5053											
MYH2	4620	broad.mit.edu	37	chr17	10443979	10443979	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccccttgactgacaaatgGgtaatcatatgggttcgtgg	11	9	1	2	rs138162020		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:10443979G>C	uc010coi.3	-	10	1068	c.940C>G	c.(940-942)Cca>Gca	p.P314A	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P314A|MYH2_uc010coj.3_Missense_Mutation_p.P314A	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	314	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.P314S(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGACAAATGGGTAATCATAT	0.363													8	44					0	0	1	0	0	C	10443979	G	C	10443979	3	2	291	1	0	0	0	0	1	0	0	0	10035	1232	43	4	5005	4	MYH2	17	10443979	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		10443979	70751231	13	5054											
TEX2	55852	broad.mit.edu	37	chr17	62265588	62265588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcctctgggggcttcgGctttcctgggggacacacct	15	13	1	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:62265588G>A	uc002jed.3	-	4	2536	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	TEX2_uc002jec.3_Silent_p.S788S|TEX2_uc002jee.3_Silent_p.S788S	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	788					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGGGCTTCGGCTTTCCTGGG	0.602													32	51					0	0	1	0	0	A	62265588	G	A	62265588	2	1	291	1	0	0	0	0	0	0	0	1	15778	1194	42	2		2	TEX2	17	62265588	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	51821609	62265588	18929622	14	5055											
RNF213	57674	broad.mit.edu	37	chr17	78343413	78343413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgagaaggaagtgatTgagagcctgctctctctcct	11	12	2	3			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:78343413T>C	uc002jyh.2	+	45	12557	c.12414T>C	c.(12412-12414)atT>atC	p.I4138I	RNF213_uc021uen.1_Silent_p.I4089I|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGAAGTGATTGAGAGCCTGC	0.517													31	57					0	0	1	0	0	C	78343413	T	C	78343413	2	2	291	1	0	0	0	0	0	0	0	1	13477	1800	63	3		3	RNF213	17	78343413	Silent	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08	16077825	78343413	2851797	15	5056											
SHANK1	50944	broad.mit.edu	37	chr19	51189611	51189611	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaggatttcgtccagtttGtctaggggtagatgaatgaa	13	6	1	3			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr19:51189611G>T	uc002psx.1	-	20	2478	c.2459_splice	c.e20-1	p.N820_splice	SHANK1_uc002psw.1_Splice_Site_p.N204_splice	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	820					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGTCCAGTTTGTCTAGGGGTA	0.572													21	47					0	0	1	0	0	T	51189611	G	T	51189611	5	4	291	1	0	0	0	0	0	0	1	0	14264	1391	48	4	4041	4	SHANK1	19	51189611	Splice_Site	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		51189611	7939372	16	5057											
TRPM2	7226	broad.mit.edu	37	chr21	45837906	45837906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccgccccgccgcgccGccccccttcatcctcctcag	8	25	2	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:45837906G>A	uc010gpt.1	+	20	3343	c.3243G>A	c.(3241-3243)ccG>ccA	p.P1081P	TRPM2_uc002zet.1_Silent_p.P1081P|TRPM2_uc002zeu.1_Silent_p.P1081P|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.P1081P|TRPM2_uc002zex.1_Silent_p.P867P|TRPM2_uc002zey.1_Silent_p.P594P|TRPM2_uc011afe.2_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1081						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ccgccgcgccgccccccTTCA	0.627													23	45					0	0	1	0	0	A	45837906	G	A	45837906	2	1	291	1	0	0	0	0	0	0	0	1	16583	1074	38	1		1	TRPM2	21	45837906	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		45837906	2291989	17	5058											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998790	27998790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcacccagtcccacactAtcacccttaagtcatcaccg	5	19	3	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:27998790A>G	uc004dbx.1	-	0	777	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	221										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCACACTATCACCCTTAA	0.502													10	39					0	0	1	0	0	G	27998790	A	G	27998790	3	3	291	1	0	0	0	0	1	0	0	0	4277	449	16	3	1144	3	DCAF8L1	23	27998790	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		27998790	127271770	18	5059											
USP9X	8239	broad.mit.edu	37	chrX	41058005	41058005	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggcacagcaataactagTaagtatttttaatagaatgt	7	4	0	1			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:41058005T>C	uc004dfb.3	+	30	5236	c.4603_splice	c.e30+2	p.T1535_splice	USP9X_uc004dfc.3_Splice_Site_p.T1535_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1535					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAATAACTAGTAAGTATTTTT	0.294													10	16					0	0	1	0	0	C	41058005	T	C	41058005	5	2	291	1	0	0	0	0	0	0	1	0	17087	1652	57	3	4719	3	USP9X	23	41058005	Splice_Site	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08	13059215	41058005	114212555	19	5060											
IL2RG	3561	broad.mit.edu	37	chrX	70327615	70327615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctttagggtgtaacatgGgggggcccagtaggggctat	18	6	0	0			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:70327615G>A	uc004dyw.2	-	7	1173	c.1081C>T	c.(1081-1083)Cca>Tca	p.P361S	CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Missense_Mutation_p.P90S|IL2RG_uc004dyx.2_Missense_Mutation_p.P171S	NM_000206	NP_000197	P31785	IL2RG_HUMAN	Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GTGTAACATGGGGGGGCCCAG	0.577									Severe Combined Immunodeficiency, X-linked				9	19					0	0	1	0	0	A	70327615	G	A	70327615	3	1	291	1	0	0	0	0	1	0	0	0	7688	1232	43	2	32	2	IL2RG	23	70327615	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	29269610	70327615	84942945	20	5061											
MAGEA11	4110	broad.mit.edu	37	chrX	148798323	148798323	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggtccaagggcccacgctGagaccagcaagatgaaagtt	14	10	0	3			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:148798323G>A	uc004fdq.3	+	4	1332	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MAGEA11_uc004fdr.3_Missense_Mutation_p.E364K	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	393	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCCCACGCTGAGACCAGCAA	0.532													81	146					0	0	1	0	0	A	148798323	G	A	148798323	3	1	291	1	0	0	0	0	1	0	0	0	9165	1291	45	2	1204	2	MAGEA11	23	148798323	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	78470708	148798323	6472237	21	5062											
ATP1A2	477	broad.mit.edu	37	chr1	160109744	160109744	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatctatgatgaggtcCgaaagctcatcctgcggcgg	11	11	4	2			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr1:160109744C>T	uc001fvc.3	+	21	3136	c.3004C>T	c.(3004-3006)Cga>Tga	p.R1002*	ATP1A2_uc001fvd.3_Nonsense_Mutation_p.R721*	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	1002					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R1002R(3)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGATGAGGTCCGAAAGCTCAT	0.582													10	69					0	0	1	0	0	T	160109744	C	T	160109744	4	4	292	1	0	0	0	0	0	1	0	0	1129	644	23	1	3090	1	ATP1A2	1	160109744	Nonsense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		160109744	89140877	1	5063											
CD84	8832	broad.mit.edu	37	chr1	160523156	160523156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacattttaccttctgGgaaaatcctaccttgtcttc	4	12	2	0			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr1:160523156G>A	uc001fwh.4	-	3	851	c.772C>T	c.(772-774)Cca>Tca	p.P258S	CD84_uc001fwf.4_Intron|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Intron|CD84_uc001fwj.3_Missense_Mutation_p.P258S	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	258					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTACCTTCTGGGAAAATCCTA	0.458													7	37					0	0	1	0	0	A	160523156	G	A	160523156	3	1	292	1	0	0	0	0	1	0	0	0	3042	1232	43	2	285	2	CD84	1	160523156	Missense_Mutation	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08	413412	160523156	88727465	2	5064											
ACOXL	55289	broad.mit.edu	37	chr2	111556600	111556600	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccttccttagggccccactGtttcatcgttcctgtccggg	10	15	1	0			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr2:111556600G>C	uc010yxk.1	+	6	694	c.470G>C	c.(469-471)tGt>tCt	p.C157S	ACOXL_uc021vmm.1_5'UTR|ACOXL_uc021vmn.1_5'UTR	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	157					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGCCCCACTGTTTCATCGTT	0.463													13	107					0	0	1	0	0	C	111556600	G	C	111556600	3	2	292	1	0	0	0	0	1	0	0	0	161	1377	48	4	492	4	ACOXL	2	111556600	Missense_Mutation	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08		111556600	131642773	3	5065											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306946	2306946	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgcctgggctgccctccgctCctggcctgtgagctggggac	15	16	0	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr4:2306946C>G	uc003gex.2	-	7	1441	c.1121G>C	c.(1120-1122)gGa>gCa	p.G374A	ZFYVE28_uc011bvk.2_Missense_Mutation_p.G304A|ZFYVE28_uc011bvl.2_Missense_Mutation_p.G344A|ZFYVE28_uc003gew.2_Missense_Mutation_p.G260A	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	374					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCCCTCCGCTCCTGGCCTGTG	0.667													9	40					0	0	1	0	0	G	2306946	C	G	2306946	3	3	292	1	0	0	0	0	1	0	0	0	17667	855	30	4	1566	4	ZFYVE28	4	2306946	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		2306946	188847330	4	5066											
BCLAF1	9774	broad.mit.edu	37	chr6	136599357	136599357	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatggggtgatctaggactaTtatcataagctgaaaggcca	11	6	2	2			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr6:136599357T>A	uc003qgx.1	-	3	915	c.662A>T	c.(661-663)aAt>aTt	p.N221I	BCLAF1_uc003qgy.1_Missense_Mutation_p.N219I|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.N219I|BCLAF1_uc003qgw.1_Missense_Mutation_p.N221I	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	221					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGGACTATTATCATAAGC	0.433													10	175					0	0	1	0	0	A	136599357	T	A	136599357	3	1	292	1	0	0	0	0	1	0	0	0	1383	1493	52	5	2140	5	BCLAF1	6	136599357	Missense_Mutation	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		136599357	34515710	5	5067											
STAG3L4	64940	broad.mit.edu	37	chr7	66774113	66774113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgccttctgtcacacTagcaccctggctggtgagca	11	14	3	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:66774113T>C	uc003tvt.4	+	2	537	c.279T>C	c.(277-279)acT>acC	p.T93T	STAG3L4_uc010laj.3_Non-coding_Transcript			Q8TBR4	STG34_HUMAN	Homo sapiens stromal antigen 3-like 4 (STAG3L4), transcript variant 2, non-coding RNA.	93										endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCTGTCACACTAGCACCCTGG	0.498													13	69					0	0	1	0	0	C	66774113	T	C	66774113	2	2	292	1	0	0	0	0	0	0	0	1	15246	1509	53	3		3	STAG3L4	7	66774113	Silent	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		66774113	92364550	6	5068											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	63					0	0	1	0	0	T	140453136	A	T	140453136	3	4	292	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FO-01A-11D-A257-08	73679023	140453136	18685527	7	5069											
PTPRD	5789	broad.mit.edu	37	chr9	8375990	8375990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttacaggttttgactctaCgtaagaaagctagaaaaggt	11	5	1	3	rs142960593	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr9:8375990C>T	uc003zkk.3	-	38	5350	c.4607G>A	c.(4606-4608)cGt>cAt	p.R1536H	PTPRD_uc003zkp.3_Missense_Mutation_p.R1130H|PTPRD_uc003zkq.3_Missense_Mutation_p.R1129H|PTPRD_uc003zkr.3_Missense_Mutation_p.R1120H|PTPRD_uc003zks.3_Missense_Mutation_p.R1129H|PTPRD_uc022bdj.1_Missense_Mutation_p.R1126H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1536	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1536L(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTGACTCTACGTAAGAAAGC	0.468										TSP Lung(15;0.13)			13	56					0	0	1	0	0	T	8375990	C	T	8375990	3	4	292	1	0	0	0	0	1	0	0	0	12799	536	19	1	1163	1	PTPRD	9	8375990	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		8375990	132837441	8	5070											
UBAP1	51271	broad.mit.edu	37	chr9	34241443	34241443	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggtcagcagtagtgccacGaaacagaaagttctcagccc	11	12	2	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr9:34241443G>A	uc011loj.2	+	2	622	c.612G>A	c.(610-612)acG>acA	p.T204T	UBAP1_uc010mka.2_Silent_p.T176T|UBAP1_uc022bfy.1_Silent_p.T140T|UBAP1_uc003zty.3_Silent_p.T140T|UBAP1_uc022bfz.1_Silent_p.T140T|UBAP1_uc003ztx.3_Silent_p.T140T|UBAP1_uc011loi.2_Silent_p.T176T|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Silent_p.T140T	NM_001171201	NP_001164672	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 4, mRNA.	140						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTAGTGCCACGAAACAGAAAG	0.478													9	58					0	0	1	0	0	A	34241443	G	A	34241443	2	1	292	1	0	0	0	0	0	0	0	1	16833	1045	37	1		1	UBAP1	9	34241443	Silent	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08	25865453	34241443	106971988	9	5071											
RNF10	9921	broad.mit.edu	37	chr12	121001322	121001322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggagttagcagatgacaAtcttaaagaggggaccattt	11	6	1	3			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr12:121001322A>G	uc001typ.4	+	8	1910	c.1427A>G	c.(1426-1428)aAt>aGt	p.N476S	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.N387S	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	476					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGATGACAATCTTAAAGAG	0.527													11	41					0	0	1	0	0	G	121001322	A	G	121001322	3	3	292	1	0	0	0	0	1	0	0	0	13422	101	4	3	1461	3	RNF10	12	121001322	Missense_Mutation	SNP	A	TCGA-EM-A4FO-01A-11D-A257-08		121001322	12850573	10	5072											
DEGS2	123099	broad.mit.edu	37	chr14	100615601	100615601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacggccttggggtggaCgcagagcggccgtagtgagt	19	9	1	2			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr14:100615601C>T	uc001ygx.2	-	1	617	c.529G>A	c.(529-531)Gtc>Atc	p.V177I		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	177					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				TTGGGGTGGACGCAGAGCGGC	0.667													10	32					0	0	1	0	0	T	100615601	C	T	100615601	3	4	292	1	0	0	0	0	1	0	0	0	4423	536	19	1	450	1	DEGS2	14	100615601	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		100615601	6733939	11	5073											
NETO1	81832	broad.mit.edu	37	chr18	70417314	70417314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgctggacggctttatcGtgtctggacagcctgtgact	13	11	1	1	rs144601570	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr18:70417314G>A	uc002lkw.3	-	8	1808	c.1524C>T	c.(1522-1524)caC>caT	p.H508H	NETO1_uc002lky.2_Silent_p.H508H	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	508					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CGGCTTTATCGTGTCTGGACA	0.438													7	37					0	0	1	0	0	A	70417314	G	A	70417314	2	1	292	1	0	0	0	0	0	0	0	1	10339	1136	40	1		1	NETO1	18	70417314	Silent	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08		70417314	7659934	12	5074											
BSG	682	broad.mit.edu	37	chr19	577919	577919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacacctgctcccagctctgGgacggcgcccggctggaccg	14	17	1	0			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr19:577919G>C	uc002loz.3	+	1	311	c.213G>C	c.(211-213)tgG>tgC	p.W71C	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002lpa.3_Intron|BSG_uc002lpc.3_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	71					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGCTCTGGGACGGCGCCC	0.687													4	13					0	0	1	0	0	C	577919	G	C	577919	3	2	292	1	0	0	0	0	1	0	0	0	1529	1241	43	4	255	4	BSG	19	577919	Missense_Mutation	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08		577919	58551064	13	5075											
PLCB1	23236	broad.mit.edu	37	chr20	8639291	8639291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactttatccacctctaaaaCaagagcaagtccaagtattg	5	10	1	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr20:8639291C>A	uc002wnb.3	+	8	805	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	PLCB1_uc010zrb.1_Missense_Mutation_p.Q167K|PLCB1_uc002wna.3_Missense_Mutation_p.Q268K|PLCB1_uc002wnc.1_Missense_Mutation_p.Q167K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	268					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCTCTAAAACAAGAGCAAGT	0.398													17	92					0	0	1	0	0	A	8639291	C	A	8639291	3	1	292	1	0	0	0	0	1	0	0	0	12027	479	17	4	836	4	PLCB1	20	8639291	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		8639291	54386229	14	5076											
ENTPD6	955	broad.mit.edu	37	chr20	25198164	25198164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggcctccccacccggCtacctgacggcactgcggat	11	18	0	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr20:25198164C>T	uc002wuj.2	+	8	1005	c.825C>T	c.(823-825)ggC>ggT	p.G275G	ENTPD6_uc010zsy.1_Silent_p.G275G|ENTPD6_uc010gdj.1_Silent_p.G247G|ENTPD6_uc002wum.2_Silent_p.G258G|ENTPD6_uc010zta.1_Silent_p.G275G|ENTPD6_uc002wuk.2_Silent_p.G274G|ENTPD6_uc002wul.2_Silent_p.G274G|ENTPD6_uc010ztb.1_Silent_p.G247G|ENTPD6_uc010ztc.1_Silent_p.G247G|ENTPD6_uc002wuo.2_Silent_p.G27G|ENTPD6_uc010zsz.1_Silent_p.G57G|ENTPD6_uc010ztd.1_Silent_p.G57G	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	275						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCCACCCGGCTACCTGACGG	0.552													14	83					0	0	1	0	0	T	25198164	C	T	25198164	2	4	292	1	0	0	0	0	0	0	0	1	5143	784	28	2		2	ENTPD6	20	25198164	Silent	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08	16558873	25198164	37827356	15	5077											
OTUD5	55593	broad.mit.edu	37	chrX	48781191	48781191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggggaagggggcttcaTgcccaattcagcatgcagct	14	11	2	0			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chrX:48781191T>C	uc004dlu.3	-	6	1478	c.1417A>G	c.(1417-1419)Atg>Gtg	p.M473V	OTUD5_uc004dlt.4_Missense_Mutation_p.M468V|OTUD5_uc004dlv.3_Missense_Mutation_p.M468V|OTUD5_uc011mmp.2_Missense_Mutation_p.M251V	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	473					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GGGGGCTTCATGCCCAATTCA	0.617													5	17					0	0	1	0	0	C	48781191	T	C	48781191	3	2	292	1	0	0	0	0	1	0	0	0	11315	1464	51	3	310	3	OTUD5	23	48781191	Missense_Mutation	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		48781191	106489369	16	5078											
TMSB15A	11013	broad.mit.edu	37	chrX	101770063	101770063	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctgtcaaacttctccActtccgacaagtctggctta	6	13	3	1			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chrX:101770063A>T	uc004eje.3	-	1	152	c.29T>A	c.(28-30)gTg>gAg	p.V10E		NM_021992	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15a (TMSB15A), mRNA.	10					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			large_intestine(1)|lung(1)	2						AAACTTCTCCACTTCCGACAA	0.383													15	34					0	0	1	0	0	T	101770063	A	T	101770063	3	4	292	1	0	0	0	0	1	0	0	0	16252	159	6	5	116	5	TMSB15A	23	101770063	Missense_Mutation	SNP	A	TCGA-EM-A4FO-01A-11D-A257-08	52988872	101770063	53500497	17	5079											
COL8A2	1296	broad.mit.edu	37	chr1	36564482	36564482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccttttgggcccacagctCctggctcccccctggggcct	11	18	0	0			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr1:36564482C>T	uc001bzv.2	-	1	807	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_uc001bzw.2_Missense_Mutation_p.G202E	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	267	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662													11	9					0	0	1	0	0	T	36564482	C	T	36564482	3	4	293	1	0	0	0	0	1	0	0	0	3706	855	30	2	1315	2	COL8A2	1	36564482	Missense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08		36564482	212686139	1	5080											
CTBS	1486	broad.mit.edu	37	chr1	85028950	85028950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcttactttatagttaTaataaggagcccgctgatct	7	7	2	1			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr1:85028950T>C	uc001dka.2	-	5	1012	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	CTBS_uc001dkc.3_Missense_Mutation_p.Y225C|CTBS_uc001dkb.2_Missense_Mutation_p.Y110C	NM_004388	NP_004379	Q01459	DIAC_HUMAN	Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.	316						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTTATAGTTATAATAAGGAGC	0.323													10	19					0	0	1	0	0	C	85028950	T	C	85028950	3	2	293	1	0	0	0	0	1	0	0	0	3999	1406	49	3	218	3	CTBS	1	85028950	Missense_Mutation	SNP	T	TCGA-EM-A4FQ-01A-11D-A257-08	48464468	85028950	164221671	2	5081											
FMO1	2326	broad.mit.edu	37	chr1	171249978	171249978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagccgaatctttgactcGggctacccatgggacatggt	11	11	2	1			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr1:171249978G>A	uc009wvz.3	+	5	817	c.681G>A	c.(679-681)tcG>tcA	p.S227S	FMO1_uc010pme.2_Silent_p.S164S|FMO1_uc001ghl.3_Silent_p.S227S|FMO1_uc001ghm.3_Silent_p.S227S	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	227			S -> T.		NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTTTGACTCGGGCTACCCAT	0.502													4	53					0	0	1	0	0	A	171249978	G	A	171249978	2	1	293	1	0	0	0	0	0	0	0	1	5954	1103	39	1		1	FMO1	1	171249978	Silent	SNP	G	TCGA-EM-A4FQ-01A-11D-A257-08	86221028	171249978	78000643	3	5082											
TGFBR2	7048	broad.mit.edu	37	chr3	30713340	30713340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccatcatcctggaagAtgaccgctctgacatcagct	9	13	3	3			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr3:30713340A>G	uc003cen.3	+	4	1122	c.740A>G	c.(739-741)gAt>gGt	p.D247G	TGFBR2_uc021wut.1_Missense_Mutation_p.D100G|TGFBR2_uc003ceo.3_Missense_Mutation_p.D222G	NM_001024847	NP_001020018	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 1, mRNA.	222	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCCTGGAAGATGACCGCTCT	0.562													17	24					0	0	1	0	0	G	30713340	A	G	30713340	3	3	293	1	0	0	0	0	1	0	0	0	15819	333	12	3	758	3	TGFBR2	3	30713340	Missense_Mutation	SNP	A	TCGA-EM-A4FQ-01A-11D-A257-08		30713340	167309090	4	5083											
TRPC7	57113	broad.mit.edu	37	chr5	135651397	135651397	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaattgcttccacctcttctGtgtctcggcacaggtccagc	8	14	3	0			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr5:135651397G>C	uc003lbn.2	-	2	1073	c.851C>G	c.(850-852)aCa>aGa	p.T284R	TRPC7_uc010jef.2_Missense_Mutation_p.T275R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Intron|TRPC7_uc010jei.2_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	284					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCTCTTCTGTGTCTCGGCA	0.463													13	28					0	0	1	0	0	C	135651397	G	C	135651397	3	2	293	1	0	0	0	0	1	0	0	0	16581	1377	48	4	1777	4	TRPC7	5	135651397	Missense_Mutation	SNP	G	TCGA-EM-A4FQ-01A-11D-A257-08		135651397	45263863	5	5084											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	35					0	0	1	0	0	T	140453136	A	T	140453136	3	4	293	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FQ-01A-11D-A257-08		140453136	18685527	6	5085											
NUP93	9688	broad.mit.edu	37	chr16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccttcagcaagctgaaCagcttgctgctgagactgag	11	11	1	3			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr16:56782202C>T	uc002eka.3	+	1	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*		NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	15					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.E14K(3)|p.Q15*(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517													19	41					0	0	1	0	0	T	56782202	C	T	56782202	4	4	293	1	0	0	0	0	0	1	0	0	10772	479	17	2	45	2	NUP93	16	56782202	Nonsense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08		56782202	33572551	7	5086											
C16orf46	123775	broad.mit.edu	37	chr16	81095125	81095125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaggggaggatggcgtgtCgttgaccatagggtgtttgg	20	4	0	1			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr16:81095125C>T	uc002fgc.4	-	3	1088	c.829G>A	c.(829-831)Gac>Aac	p.D277N	C16orf46_uc010chf.3_Missense_Mutation_p.D277N|C16orf46_uc010vno.2_Missense_Mutation_p.D4N	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	277										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GATGGCGTGTCGTTGACCATA	0.557													48	93					0	0	1	0	0	T	81095125	C	T	81095125	3	4	293	1	0	0	0	0	1	0	0	0	1815	884	31	1	390	1	C16orf46	16	81095125	Missense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08	24312923	81095125	9259628	8	5087											
CLSTN2	64084	broad.mit.edu	37	chr3	140140038	140140038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcctggtgaccgcctacGactgtggacagaagcccgct	12	13	0	3			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr3:140140038G>A	uc003etn.3	+	4	899	c.709G>A	c.(709-711)Gac>Aac	p.D237N	CLSTN2_uc003etm.2_Missense_Mutation_p.D237N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	237	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACCGCCTACGACTGTGGACA	0.517										HNSCC(16;0.037)			11	157					0	0	1	0	0	A	140140038	G	A	140140038	3	1	294	1	0	0	0	0	1	0	0	0	3562	1058	37	1	727	1	CLSTN2	3	140140038	Missense_Mutation	SNP	G	TCGA-EM-A4FR-01A-11D-A257-08		140140038	57882392	1	5088											
SNRNP48	154007	broad.mit.edu	37	chr6	7601664	7601664	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgccctctatgatttcGtagttgaggagacaaagaaa	10	7	2	4	rs141422613		TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr6:7601664G>C	uc003mxr.3	+	4	561	c.502G>C	c.(502-504)Gta>Cta	p.V168L	SNRNP48_uc003mxs.3_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	168					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTATGATTTCGTAGTTGAGGA	0.378													34	60					0	0	1	0	0	C	7601664	G	C	7601664	3	2	294	1	0	0	0	0	1	0	0	0	14857	1145	40	4	520	4	SNRNP48	6	7601664	Missense_Mutation	SNP	G	TCGA-EM-A4FR-01A-11D-A257-08		7601664	163513403	2	5089											
KIF25	3834	broad.mit.edu	37	chr6	168443303	168443303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagccgcagccttgcgGccctggcaggcgtcctgggg	16	15	1	0			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr6:168443303G>T	uc003qwk.1	+	7	1154	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	298					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.A297A(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCCTTGCGGCCCTGGCAGG	0.662													41	60					0	0	1	0	0	T	168443303	G	T	168443303	3	4	294	1	0	0	0	0	1	0	0	0	8293	1203	42	4	918	4	KIF25	6	168443303	Missense_Mutation	SNP	G	TCGA-EM-A4FR-01A-11D-A257-08	160841639	168443303	2671764	3	5090											
CACNA1B	774	broad.mit.edu	37	chr9	141016186	141016186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcccctggcccctggctCtcgaattggctctgaccctt	9	18	2	1			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr9:141016186C>T	uc004cog.3	+	45	6894	c.6749C>T	c.(6748-6750)tCt>tTt	p.S2250F	CACNA1B_uc022bqn.1_Missense_Mutation_p.L2188F|CACNA1B_uc004coi.3_Missense_Mutation_p.S1464F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2252					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCCCCTGGCTCTCGAATTGGC	0.662													17	25					0	0	1	0	0	T	141016186	C	T	141016186	3	4	294	1	0	0	0	0	1	0	0	0	2539	913	32	2	6937	2	CACNA1B	9	141016186	Missense_Mutation	SNP	C	TCGA-EM-A4FR-01A-11D-A257-08		141016186	197245	4	5091											
TMC7	79905	broad.mit.edu	37	chr16	19070964	19070964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccttgaggcccagccgCgtccagcttcattaattcac	8	15	3	1			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr16:19070964C>T	uc002dfp.2	+	14	2384	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C	TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGCCCAGCCGCGTCCAGCTTC	0.517													6	10					0	0	1	0	0	T	19070964	C	T	19070964	3	4	294	1	0	0	0	0	1	0	0	0	15987	783	27	1		1	TMC7	16	19070964	Missense_Mutation	SNP	C	TCGA-EM-A4FR-01A-11D-A257-08		19070964	71283789	5	5092											
ZNF362	149076	broad.mit.edu	37	chr1	33745738	33745738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcaggtctggggctgtcCacccggaccccgtctgtgag	14	14	2	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:33745738C>T	uc001bxc.1	+	4	533	c.363C>T	c.(361-363)tcC>tcT	p.S121S		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGGCTGTCCACCCGGACCC	0.687													11	33					0	0	1	0	0	T	33745738	C	T	33745738	2	4	295	1	0	0	0	0	0	0	0	1	17865	581	21	2		2	ZNF362	1	33745738	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		33745738	215504883	1	5093											
DHCR24	1718	broad.mit.edu	37	chr1	55349397	55349397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagtgagccagccagggCgccccgtgcacatgaaggtc	14	13	0	3			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:55349397C>T	uc001cyc.1	-	1	410	c.281G>A	c.(280-282)cGc>cAc	p.R94H	DHCR24_uc010ook.1_Missense_Mutation_p.R53H	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	94	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CCAGCCAGGGCGCCCCGTGCA	0.562													22	75					0	0	1	0	0	T	55349397	C	T	55349397	3	4	295	1	0	0	0	0	1	0	0	0	4476	768	27	1	1301	1	DHCR24	1	55349397	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	21603659	55349397	193901224	2	5094											
ELTD1	64123	broad.mit.edu	37	chr1	79383543	79383543	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccataatatctgtatcCtagtgctgccgaaaatccaa	7	10	1	0			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:79383543C>A	uc001diq.4	-	10	1810	c.1654G>T	c.(1654-1656)Gga>Tga	p.G552*		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	552					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATCTGTATCCTAGTGCTGCC	0.358													4	82					0	0	1	0	0	A	79383543	C	A	79383543	4	1	295	1	0	0	0	0	0	1	0	0	5084	690	24	4	438	4	ELTD1	1	79383543	Nonsense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	24034146	79383543	169867078	3	5095											
CRTC2	200186	broad.mit.edu	37	chr1	153924016	153924016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacatggcgggccaaggagGaggcaggcagagaggggtgg	22	6	0	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:153924016G>A	uc021pab.1	-	10	1283	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	375	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.S375F(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCAAGGAGGAGGCAGGCAG	0.642													6	38					0	0	1	0	0	A	153924016	G	A	153924016	3	1	295	1	0	0	0	0	1	0	0	0	3900	1174	41	2	973	2	CRTC2	1	153924016	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	74540473	153924016	95326605	4	5096											
FBXL2	25827	broad.mit.edu	37	chr3	33420177	33420177	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagcatgtttctctccagAtaaccgacagcacactcatc	5	15	2	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:33420177A>G	uc003cfp.3	+	13	966	c.895_splice	c.e13-1	p.I299_splice	FBXL2_uc011axm.1_Splice_Site|FBXL2_uc011axn.1_Splice_Site|FBXL2_uc011axp.2_Splice_Site_p.I215_splice|FBXL2_uc021wuy.1_Splice_Site_p.I231_splice|FBXL2_uc011axo.2_Splice_Site_p.I194_splice|FBXL2_uc011axr.1_Splice_Site|FBXL2_uc011axq.1_Splice_Site|FBXL2_uc011axs.1_Splice_Site	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	299					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTCTCTCCAGATAACCGACAG	0.428													13	29					0	0	1	0	0	G	33420177	A	G	33420177	5	3	295	1	0	0	0	0	0	0	1	0	5716	347	12	3	945	3	FBXL2	3	33420177	Splice_Site	SNP	A	TCGA-EM-A4FV-01A-11D-A257-08		33420177	164602253	5	5097											
PROS1	5627	broad.mit.edu	37	chr3	93595969	93595969	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattccagatgagattgttGatcggaacatagacttaggg	11	5	0	4			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:93595969G>T	uc003drb.4	-	13	2052	c.1711C>A	c.(1711-1713)Caa>Aaa	p.Q571K	PROS1_uc010hoo.3_Missense_Mutation_p.Q440K|PROS1_uc003dqz.4_Missense_Mutation_p.Q440K	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	571	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGAGATTGTTGATCGGAACAT	0.373													9	34					0	0	1	0	0	T	93595969	G	T	93595969	3	4	295	1	0	0	0	0	1	0	0	0	12558	1299	45	4	327	4	PROS1	3	93595969	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	60175792	93595969	104426461	6	5098											
MRS2	57380	broad.mit.edu	37	chr6	24416723	24416723	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagctctgtgtatcaaaatGgagtgacccacaagtcttgt	10	8	3	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:24416723G>C	uc011djl.2	+	7	949	c.827G>C	c.(826-828)tGg>tCg	p.W276S	MRS2_uc003nea.3_Missense_Mutation_p.W273S|MRS2_uc003neb.3_Missense_Mutation_p.W273S|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.W223S	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	273					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GTATCAAAATGGAGTGACCCA	0.318													17	61					0	0	1	0	0	C	24416723	G	C	24416723	3	2	295	1	0	0	0	0	1	0	0	0	9851	1357	47	4	844	4	MRS2	6	24416723	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08		24416723	146698344	7	5099											
GABBR1	2550	broad.mit.edu	37	chr6	29591190	29591190	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggctgatgggtgcgtTcggaagaaagtggggaaacg	19	4	0	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:29591190T>G	uc003nmt.4	-	7	1191	c.855A>C	c.(853-855)cgA>cgC	p.R285R	GABBR1_uc003nmp.4_Silent_p.R168R|GABBR1_uc003nms.4_Silent_p.R168R|GABBR1_uc003nmu.4_Silent_p.R223R|GABBR1_uc011dlr.2_Silent_p.R108R|GABBR1_uc011dls.1_Silent_p.R285R	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	285					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	ATGGGTGCGTTCGGAAGAAAG	0.562													6	20					0	0	1	0	0	G	29591190	T	G	29591190	2	3	295	1	0	0	0	0	0	0	0	1	6155	1770	62	5		5	GABBR1	6	29591190	Silent	SNP	T	TCGA-EM-A4FV-01A-11D-A257-08	5174467	29591190	141523877	8	5100											
RRAGD	58528	broad.mit.edu	37	chr6	90082246	90082246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcacggttgtattattaaGctttatgatggctgtggatt	11	4	0	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:90082246G>T	uc003pnd.4	-	5	1244	c.961C>A	c.(961-963)Ctt>Att	p.L321I	RRAGD_uc010kcc.3_Missense_Mutation_p.L170I	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Homo sapiens Ras-related GTP binding D (RRAGD), mRNA.	321					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		GTATTATTAAGCTTTATGATG	0.398											OREG0017567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	30					0	0	1	0	0	T	90082246	G	T	90082246	3	4	295	1	0	0	0	0	1	0	0	0	13675	971	34	4	249	4	RRAGD	6	90082246	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	60491056	90082246	81032821	9	5101											
HOXA1	3198	broad.mit.edu	37	chr7	27134894	27134894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgacctgttttgggagggTttcttttgactttcatccag	10	8	2	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:27134894T>C	uc003sye.3	-	0	732	c.638A>G	c.(637-639)aAc>aGc	p.N213S	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_Missense_Mutation_p.N213S|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	213						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTGGGAGGGTTTCTTTTGAC	0.488													5	31					0	0	1	0	0	C	27134894	T	C	27134894	3	2	295	1	0	0	0	0	1	0	0	0	7288	1725	60	3	377	3	HOXA1	7	27134894	Missense_Mutation	SNP	T	TCGA-EM-A4FV-01A-11D-A257-08		27134894	132003769	10	5102											
IFRD1	3475	broad.mit.edu	37	chr7	112112868	112112868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttggacccccagtgatGcttgatgctgcaacgcttaa	10	11	0	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:112112868G>A	uc003vgh.3	+	11	1688	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	IFRD1_uc011kmn.2_Missense_Mutation_p.M356I|IFRD1_uc003vgj.3_Missense_Mutation_p.M406I|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.M356I|IFRD1_uc003vgk.3_Missense_Mutation_p.M123I	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	406				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).	multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCCCAGTGATGCTTGATGCTG	0.353													7	41					0	0	1	0	0	A	112112868	G	A	112112868	3	1	295	1	0	0	0	0	1	0	0	0	7553	1319	46	2	1260	2	IFRD1	7	112112868	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	84977974	112112868	47025795	11	5103											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	35					0	0	1	0	0	T	140453136	A	T	140453136	3	4	295	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FV-01A-11D-A257-08	28340268	140453136	18685527	12	5104											
ZNF467	168544	broad.mit.edu	37	chr7	149462027	149462027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttggagctgaagctgcGggcgcagacggcgcaggcgt	19	9	0	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:149462027G>A	uc003wgd.2	-	4	1705	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	ZNF467_uc003wgc.3_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGAAGCTGCGGGCGCAGACG	0.701													5	18					0	0	1	0	0	A	149462027	G	A	149462027	3	1	295	1	0	0	0	0	1	0	0	0	17924	1116	39	1	227	1	ZNF467	7	149462027	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	9008891	149462027	9676636	13	5105											
GTPBP4	23560	broad.mit.edu	37	chr10	1046799	1046799	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaacatcagacctctcttCatcaacaaggtgtgtgtggt	9	10	4	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:1046799C>T	uc001ift.3	+	6	908	c.837C>T	c.(835-837)ttC>ttT	p.F279F	GTPBP4_uc010qac.1_Silent_p.F70F|GTPBP4_uc010qad.2_Silent_p.F163F|GTPBP4_uc010qae.2_Silent_p.F232F	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	279					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.L278L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GACCTCTCTTCATCAACAAGG	0.463													6	75					0	0	1	0	0	T	1046799	C	T	1046799	2	4	295	1	0	0	0	0	0	0	0	1	6882	825	29	2		2	GTPBP4	10	1046799	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		1046799	134487948	14	5106											
KIAA0913	23053	broad.mit.edu	37	chr10	75554317	75554317	+	Frame_Shift_Del	DEL	C	C	-													agtggtttctcccacaggttCccggcccccaagtcgcaact							TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:75554317delC	uc001jvj.3	+	13	3068	c.2813delC	c.(2812-2814)tccfs	p.S938fs	KIAA0913_uc001jve.3_Frame_Shift_Del_p.S943fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.S938fs|KIAA0913_uc001jvf.3_Frame_Shift_Del_p.S938fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.S366fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.S361fs	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	938							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CCCACAGGTTCCCGGCCCCCA	0.498													2	4	---	---	---	---						-	75554317	C	-	75554317	7	5	295	1	0	1	0	1	0	0	0	0	8200	855	30	0	2882	0	KIAA0913	10	75554317	Frame_Shift_Del	DEL	C	TCGA-EM-A4FV-01A-11D-A257-08	74507518	75554317	59980430	15	5107											
OR8D1	283159	broad.mit.edu	37	chr11	124180036	124180036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcaacagctagggtgggCaccaaggtgttaaaccccgc	12	12	0	0			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr11:124180036C>T	uc010sag.2	-	0	627	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTAGGGTGGGCACCAAGGTGT	0.498													5	32					0	0	1	0	0	T	124180036	C	T	124180036	2	4	295	1	0	0	0	0	0	0	0	1	11231	697	25	2		2	OR8D1	11	124180036	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		124180036	10826480	16	5108											
KRAS	3845	broad.mit.edu	37	chr12	25380277	25380278	+	Missense_Mutation	DNP	GA	GA	TT													cattgcactgtactcctcttGacctgctgtgtcgagaatat					rs121913238		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:25380277_25380278GA>TT	uc001rgp.1	-	2	361_362	c.180_181TC>AA	c.(178-183)ggtcaa>ggAAaa	p.Q61K	KRAS_uc001rgq.1_Missense_Mutation_p.Q61K	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(71)|p.Q61K(64)|p.Q61R(56)|p.Q61E(20)|p.Q61P(12)|p.G60G(2)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			TACTCCTCTTGACCTGCTGTGT	0.411	Q61K(CALU6_LUNG)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	24					0	0	1	0	0	TT	25380278	GA	TT	25380277	3	4	295	1	0	0	0	0	1	0	0	0	8438	1299	45	4	521	4	KRAS	12	25380277	Missense_Mutation	DNP	GA	TCGA-EM-A4FV-01A-11D-A257-08		25380277	108471618	17	5109											
ANAPC7	51434	broad.mit.edu	37	chr12	110812081	110812081	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgagtggcatccgtgggactCtcctccttctccatcttctg	9	14	4	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:110812081C>T	uc001tqo.2	-	10	1669	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E		NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	556					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CCGTGGGACTCTCCTCCTTCT	0.577													3	28					0	0	1	0	0	T	110812081	C	T	110812081	2	4	295	1	0	0	0	0	0	0	0	1	606	912	32	2		2	ANAPC7	12	110812081	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	85431804	110812081	23039814	18	5110											
TMEM132D	121256	broad.mit.edu	37	chr12	130184920	130184920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggtagactttgtcccGcaggatgtgggcttttagtt	13	8	1	1	rs138159153	by1000genomes	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:130184920G>A	uc009zyl.1	-	1	731	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	135						integral to membrane		p.R135R(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGTCCCGCAGGATGTGG	0.537													7	23					0	0	1	0	0	A	130184920	G	A	130184920	3	1	295	1	0	0	0	0	1	0	0	0	16044	1086	38	1	2928	1	TMEM132D	12	130184920	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	19372839	130184920	3666975	19	5111											
SLITRK6	84189	broad.mit.edu	37	chr13	86370229	86370229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttatctgcttgcaggaattCcaggttttccagtccatgga	10	9	1	0			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr13:86370229C>T	uc001vll.1	-	1	874	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SLITRK6_uc021rla.1_Missense_Mutation_p.E139K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	139						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCAGGAATTCCAGGTTTTCC	0.363													11	94					0	0	1	0	0	T	86370229	C	T	86370229	3	4	295	1	0	0	0	0	1	0	0	0	14747	864	30	2	2114	2	SLITRK6	13	86370229	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		86370229	28799649	20	5112											
CYTH1	9267	broad.mit.edu	37	chr17	76697789	76697789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattaagatcagtgaactcaTgcagctccacaaatgcatga	8	9	2	3			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr17:76697789T>A	uc021ueg.1	-	5	472	c.401A>T	c.(400-402)cAt>cTt	p.H134L	CYTH1_uc002jvw.3_Missense_Mutation_p.H134L|CYTH1_uc010wtw.1_Missense_Mutation_p.H75L|CYTH1_uc010wtx.1_Missense_Mutation_p.H75L	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	134	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGTGAACTCATGCAGCTCCAC	0.463													6	83					0	0	1	0	0	A	76697789	T	A	76697789	3	1	295	1	0	0	0	0	1	0	0	0	4203	1464	51	5	827	5	CYTH1	17	76697789	Missense_Mutation	SNP	T	TCGA-EM-A4FV-01A-11D-A257-08		76697789	4497421	21	5113											
MCOLN1	57192	broad.mit.edu	37	chr19	7595248	7595248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtttgtgacgttcgccgCcatgcaggcgcagcagggcc	14	13	0	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:7595248C>T	uc002mgo.3	+	11	1577	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	MCOLN1_uc002mgp.3_Missense_Mutation_p.A444V	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	479					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGTTCGCCGCCATGCAGGCG	0.602													14	157					0	0	1	0	0	T	7595248	C	T	7595248	3	4	295	1	0	0	0	0	1	0	0	0	9395	739	26	2	1482	2	MCOLN1	19	7595248	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		7595248	51533735	22	5114											
COL5A3	50509	broad.mit.edu	37	chr19	10079134	10079134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcaccagcttctcccGgggggccaatgagaccgatc	10	15	2	1			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:10079134G>A	uc002mmq.1	-	58	4327	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1414	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCTTCTCCCGGGGGGCCAAT	0.592													15	82					0	0	1	0	0	A	10079134	G	A	10079134	3	1	295	1	0	0	0	0	1	0	0	0	3698	1116	39	1	1032	1	COL5A3	19	10079134	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	2483886	10079134	49049849	23	5115											
ZNF565	147929	broad.mit.edu	37	chr19	36686017	36686017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcacttccattcttcCagagagaactctatggccac	7	14	2	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:36686017C>T	uc002odn.3	-	2	159	c.51G>A	c.(49-51)ctG>ctA	p.L17L	ZNF565_uc010ees.3_5'UTR|ZNF565_uc002odo.3_Silent_p.L17L|ZNF565_uc002odp.1_Silent_p.L17L	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCCATTCTTCCAGAGAGAACT	0.443													3	49					0	0	1	0	0	T	36686017	C	T	36686017	2	4	295	1	0	0	0	0	0	0	0	1	17993	581	21	2		2	ZNF565	19	36686017	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	26606883	36686017	22442966	24	5116											
VN1R2	317701	broad.mit.edu	37	chr19	53762045	53762045	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagctgactccttggttatCctatctaaaagaatcccaga	7	10	1	3			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:53762045C>T	uc002qbi.2	+	0	501	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	139					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCTTGGTTATCCTATCTAAAA	0.383													11	36					0	0	1	0	0	T	53762045	C	T	53762045	2	4	295	1	0	0	0	0	0	0	0	1	17176	845	30	2		2	VN1R2	19	53762045	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	17076028	53762045	5366938	25	5117											
EIF1AX	1964	broad.mit.edu	37	chrX	20148726	20148726	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcagtttcattgattttagCtaaggacacagtaagaaata	7	5	2	2			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:20148726C>G	uc004czt.3	-	6	546	c.338_splice	c.e6-1	p.A113_splice		NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	113						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTGATTTTAGCTAAGGACACA	0.313													7	32					0	0	1	0	0	G	20148726	C	G	20148726	5	3	295	1	0	0	0	0	0	0	1	0	4992	811	28	4	105	4	EIF1AX	23	20148726	Splice_Site	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		20148726	135121834	26	5118											
FMR1	2332	broad.mit.edu	37	chrX	147026458	147026458	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agacgaactcagtgattggtCattagctccaacagaggaag	11	8	2	3			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:147026458C>T	uc010nst.3	+	14	1770	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	FMR1_uc004fcj.3_Missense_Mutation_p.S491L|FMR1_uc022cgc.1_Intron|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Intron|FMR1_uc022cge.1_Missense_Mutation_p.S493L|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Missense_Mutation_p.S354L|FMR1_uc011mxa.2_Missense_Mutation_p.S161L	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	514	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATTGGTCATTAGCTCCA	0.493									Fragile X syndrome				8	21					0	0	1	0	0	T	147026458	C	T	147026458	3	4	295	1	0	0	0	0	1	0	0	0	5960	838	29	2	1599	2	FMR1	23	147026458	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	126877732	147026458	8244102	27	5119											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			36	57					0	0	1	0	0	C	115256529	T	C	115256529	3	2	296	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A4G1-01A-11D-A257-08		115256529	133994092	1	5120											
ZC3H15	55854	broad.mit.edu	37	chr2	187351145	187351145	+	Frame_Shift_Del	DEL	C	C	-													caggctcaggccgggggcagCaaaaaggcggagcaaaaaaa							TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr2:187351145delC	uc002upo.3	+	0	261	c.36delC	c.(34-36)agcfs	p.S12fs		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	12						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CCGGGGGCAGCAAAAAGGCGG	0.612													2	4	---	---	---	---						-	187351145	C	-	187351145	7	5	296	1	0	1	0	1	0	0	0	0	17564	709	25	0	38	0	ZC3H15	2	187351145	Frame_Shift_Del	DEL	C	TCGA-EM-A4G1-01A-11D-A257-08		187351145	55848228	2	5121											
RREB1	6239	broad.mit.edu	37	chr6	7231938	7231938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcagacagcggaggaCaacactcaggatgaggtggc	14	9	2	2			TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr6:7231938C>T	uc003mxb.3	+	9	4098	c.3606C>T	c.(3604-3606)gaC>gaT	p.D1202D	RREB1_uc021yky.1_Silent_p.D1202D|RREB1_uc003mxc.3_Silent_p.D1202D|RREB1_uc010jnx.3_Silent_p.D1202D|RREB1_uc021ykz.1_Silent_p.D1202D|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1202					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCGGAGGACAACACTCAGG	0.617													3	30					0	0	1	0	0	T	7231938	C	T	7231938	2	4	296	1	0	0	0	0	0	0	0	1	13679	477	17	2		2	RREB1	6	7231938	Silent	SNP	C	TCGA-EM-A4G1-01A-11D-A257-08		7231938	163883129	3	5122											
EFCAB1	79645	broad.mit.edu	37	chr8	49643125	49643125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttcttccaaagatcctCgaagaaacagtgataatcca	5	9	1	3			TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr8:49643125C>T	uc003xqo.2	-	2	453	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.R46Q|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	98	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAAAGATCCTCGAAGAAACAG	0.343													4	17					0	0	1	0	0	T	49643125	C	T	49643125	3	4	296	1	0	0	0	0	1	0	0	0	4933	884	31	1	358	1	EFCAB1	8	49643125	Missense_Mutation	SNP	C	TCGA-EM-A4G1-01A-11D-A257-08		49643125	96720897	4	5123											
ZSCAN20	7579	broad.mit.edu	37	chr1	33944900	33944900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttagacaatggctatggCcctggaattgcaagcccagg	14	9	0	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:33944900C>T	uc001bxj.4	+	1	178	c.11C>T	c.(10-12)gCc>gTc	p.A4V	ZSCAN20_uc001bxk.2_Missense_Mutation_p.A4V|ZSCAN20_uc009vui.3_Missense_Mutation_p.A4V	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	4					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATGGCTATGGCCCTGGAATTG	0.512													38	56					0	0	1	0	0	T	33944900	C	T	33944900	3	4	297	1	0	0	0	0	1	0	0	0	18229	739	26	2	13	2	ZSCAN20	1	33944900	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		33944900	215305721	1	5124											
CLCA1	1179	broad.mit.edu	37	chr1	86959123	86959123	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatgaatggcacagtgatCgtggacagcaccgtgggaaa	15	7	0	2			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:86959123C>T	uc001dlt.3	+	9	1781	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	CLCA1_uc001dls.1_Silent_p.I446I	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	507					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCACAGTGATCGTGGACAGCA	0.493													8	86					0	0	1	0	0	T	86959123	C	T	86959123	2	4	297	1	0	0	0	0	0	0	0	1	3457	874	31	1		1	CLCA1	1	86959123	Silent	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08	53014223	86959123	162291498	2	5125											
HIGD1A	25994	broad.mit.edu	37	chr3	42845665	42845665	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccccgctcggcaactcactCcacaagcttctgctccatct	5	19	3	0			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr3:42845665C>T	uc010hid.3	-	1	271	c.20_splice	c.e1+1	p.E7_splice	CCBP2_uc003cmc.1_5'Flank|HIGD1A_uc003cma.4_Intron|HIGD1A_uc003cmb.4_Intron	NM_001099668	NP_054775	Q9Y241	HIG1A_HUMAN	Homo sapiens HIG1 hypoxia inducible domain family, member 1A (HIGD1A), transcript variant 1, mRNA.	0	HIG1.				response to stress	integral to membrane|protein complex	protein binding			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCAACTCACTCCACAAGCTTC	0.672													46	109					0	0	1	0	0	T	42845665	C	T	42845665	5	4	297	1	0	0	0	0	0	0	1	0	7106	869	30	2	320	2	HIGD1A	3	42845665	Splice_Site	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		42845665	155176765	3	5126											
ARHGAP18	93663	broad.mit.edu	37	chr6	129920497	129920497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtttacaataaacttgGgaatctatagagaaaaggaa	9	4	1	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr6:129920497G>A	uc003qbr.3	-	11	1666	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L	ARHGAP18_uc011ebw.2_Missense_Mutation_p.P526L	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	526					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AATAAACTTGGGAATCTATAG	0.294													12	36					0	0	1	0	0	A	129920497	G	A	129920497	3	1	297	1	0	0	0	0	1	0	0	0	868	1232	43	2	430	2	ARHGAP18	6	129920497	Missense_Mutation	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08		129920497	41194570	4	5127											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805072	44805072	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgagccccgcccacgtgctCatgcccagcgtgatggagat	13	14	1	3			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr7:44805072C>G	uc003tlr.3	+	15	2259	c.2136C>G	c.(2134-2136)ctC>ctG	p.L712L	ZMIZ2_uc003tlq.3_Silent_p.L654L|ZMIZ2_uc003tls.3_Silent_p.L686L|ZMIZ2_uc003tlt.3_Silent_p.L335L|ZMIZ2_uc010kyj.3_Silent_p.L234L|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	712					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCACGTGCTCATGCCCAGCG	0.701													13	23					0	0	1	0	0	G	44805072	C	G	44805072	2	3	297	1	0	0	0	0	0	0	0	1	17694	813	29	4		4	ZMIZ2	7	44805072	Silent	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		44805072	114333591	5	5128											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				34	53					0	0	1	0	0	T	140453136	A	T	140453136	3	4	297	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25G-01A-11D-A16O-08	95648064	140453136	18685527	6	5129											
PKHD1L1	93035	broad.mit.edu	37	chr8	110396357	110396357	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttatctggaactccagGtctgttatatgacatctgaa	7	9	3	2			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr8:110396357G>A	uc003yne.3	+	5	579	c.475_splice	c.e5+1	p.G159_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	159	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAACTCCAGGTCTGTTATAT	0.279										HNSCC(38;0.096)			8	171					0	0	1	0	0	A	110396357	G	A	110396357	5	1	297	1	0	0	0	0	0	0	1	0	11972	1275	44	2	494	2	PKHD1L1	8	110396357	Splice_Site	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08		110396357	35967665	7	5130											
MPDZ	8777	broad.mit.edu	37	chr9	13217196	13217196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccaattttttatctccaAtgtagccagcaatggtaatt	5	9	1	0			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr9:13217196A>G	uc010mhy.3	-	7	1241	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	MPDZ_uc010mhz.3_Missense_Mutation_p.I395T|MPDZ_uc011lmn.2_Missense_Mutation_p.I395T|MPDZ_uc003zlb.4_Missense_Mutation_p.I395T|MPDZ_uc010mia.1_Missense_Mutation_p.I395T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	395	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTATCTCCAATGTAGCCAGC	0.303													15	17					0	0	1	0	0	G	13217196	A	G	13217196	3	3	297	1	0	0	0	0	1	0	0	0	9722	101	4	3	5093	3	MPDZ	9	13217196	Missense_Mutation	SNP	A	TCGA-ET-A25G-01A-11D-A16O-08		13217196	127996235	8	5131											
C11orf63	79864	broad.mit.edu	37	chr11	122805462	122805462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccacaatctcaaagaaaCctccaatacatttgctccac	3	14	1	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr11:122805462C>T	uc001pym.3	+	4	1610	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	438										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTCAAAGAAACCTCCAATACA	0.398													30	40					0	0	1	0	0	T	122805462	C	T	122805462	3	4	297	1	0	0	0	0	1	0	0	0	1654	507	18	2	1391	2	C11orf63	11	122805462	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		122805462	12201054	9	5132											
PABPC3	5042	broad.mit.edu	37	chr13	25670442	25670442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagttcagcccggcagggCccatcctctccatccggatc	10	16	2	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr13:25670442C>T	uc001upy.3	+	0	167	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	36	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCCGGCAGGGCCCATCCTCTC	0.627													30	45					0	0	1	0	0	T	25670442	C	T	25670442	3	4	297	1	0	0	0	0	1	0	0	0	11365	739	26	2	108	2	PABPC3	13	25670442	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		25670442	89499436	10	5133											
COL6A2	1292	broad.mit.edu	37	chr21	47538972	47538972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcaacagtggagccccagGaagtcctggtgtgaaaggag	16	8	0	1			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr21:47538972G>A	uc002zia.1	+	13	1290	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	COL6A2_uc002zhz.1_Missense_Mutation_p.G403E|COL6A2_uc002zhy.1_Missense_Mutation_p.G403E	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	403	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGCCCCAGGAAGTCCTGGT	0.677													10	17					0	0	1	0	0	A	47538972	G	A	47538972	3	1	297	1	0	0	0	0	1	0	0	0	3700	1174	41	2	1258	2	COL6A2	21	47538972	Missense_Mutation	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08		47538972	590923	11	5134											
SCMH1	22955	broad.mit.edu	37	chr1	41582675	41582675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagaagacgcattcagCcgaaatcctgcagcaagcat	10	12	1	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:41582675C>T	uc001cgo.3	-	6	759	c.390G>A	c.(388-390)cgG>cgA	p.R130R	SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Silent_p.R69R|SCMH1_uc001cgr.3_Silent_p.R69R|SCMH1_uc001cgq.3_Silent_p.R83R|SCMH1_uc001cgs.3_Silent_p.R140R|SCMH1_uc001cgt.3_Silent_p.R69R|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	130					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ACGCATTCAGCCGAAATCCTG	0.478													3	45					0	0	1	0	0	T	41582675	C	T	41582675	2	4	298	1	0	0	0	0	0	0	0	1	13908	726	26	2		2	SCMH1	1	41582675	Silent	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		41582675	207667946	1	5135											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			56	138					0	0	1	0	0	T	115256530	G	T	115256530	3	4	298	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08	73673855	115256530	133994091	2	5136											
LAMC1	3915	broad.mit.edu	37	chr1	183072526	183072526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcccggagagctttgCcatttacaagcgcacacggg	12	14	0	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:183072526C>G	uc001gpy.4	+	1	739	c.482C>G	c.(481-483)gCc>gGc	p.A161G	LAMC1_uc001gpx.3_Missense_Mutation_p.A161G	NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	161	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGAGCTTTGCCATTTACAAG	0.512													61	104					0	0	1	0	0	G	183072526	C	G	183072526	3	3	298	1	0	0	0	0	1	0	0	0	8614	739	26	4	488	4	LAMC1	1	183072526	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08	67815996	183072526	66178095	3	5137											
TET3	200424	broad.mit.edu	37	chr2	74274199	74274199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcttcttgcccccttccTgaggccttgtcacctcctgc	8	18	2	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr2:74274199T>C	uc002skb.4	+	0	750	c.750T>C	c.(748-750)ccT>ccC	p.P250P	TET3_uc010fez.2_Silent_p.P250P	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	250							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCCCTTCCTGAGGCCTTGT	0.602													3	64					0	0	1	0	0	C	74274199	T	C	74274199	2	2	298	1	0	0	0	0	0	0	0	1	15768	1567	55	3		3	TET3	2	74274199	Silent	SNP	T	TCGA-ET-A25I-01A-11D-A16O-08		74274199	168925174	4	5138											
PCDHAC2	56134	broad.mit.edu	37	chr5	140209539	140209539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagcagcgctcgcttcccGtttcgcgtggggctgtacac	13	14	0	0			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr5:140209539G>A	uc003lho.2	+	0	1890	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.P621P	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTTCCCGTTTCGCGTGG	0.657													32	55					0	0	1	0	0	A	140209539	G	A	140209539	2	1	298	1	0	0	0	0	0	0	0	1	11533	1132	40	1		1	PCDHAC2	5	140209539	Silent	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		140209539	40705721	5	5139											
CCDC129	223075	broad.mit.edu	37	chr7	31683024	31683024	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccaggtgaagtcaagGtctggtactttgggtcagat	13	9	3	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr7:31683024G>T	uc011kae.2	+	10	2130	c.2118G>T	c.(2116-2118)agG>agT	p.R706S	CCDC129_uc011kad.1_Missense_Mutation_p.R690S|CCDC129_uc003tcj.1_Missense_Mutation_p.R680S|CCDC129_uc003tci.1_Missense_Mutation_p.R531S|CCDC129_uc003tck.1_Missense_Mutation_p.R588S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	680										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAAGTCAAGGTCTGGTACTT	0.483													25	29					0	0	1	0	0	T	31683024	G	T	31683024	3	4	298	1	0	0	0	0	1	0	0	0	2764	1252	44	4	2078	4	CCDC129	7	31683024	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		31683024	127455639	6	5140											
ZFHX4	79776	broad.mit.edu	37	chr8	77768323	77768323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttggctccgaccacggttCggcagctgatggcacagcaa	12	13	0	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr8:77768323C>T	uc003yau.2	+	9	9553	c.9166C>T	c.(9166-9168)Cgg>Tgg	p.R3056W	ZFHX4_uc003yaw.1_Missense_Mutation_p.R3011W	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3011	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D3056E(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCACGGTTCGGCAGCTGAT	0.507										HNSCC(33;0.089)			6	117					0	0	1	0	0	T	77768323	C	T	77768323	3	4	298	1	0	0	0	0	1	0	0	0	17632	875	31	1	9200	1	ZFHX4	8	77768323	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		77768323	68595699	7	5141											
TG	7038	broad.mit.edu	37	chr8	133900513	133900517	+	Frame_Shift_Del	DEL	ATTCA	ATTCA	-													ccggaaacttcagtctctttAttcaaagtctgtatgaggct							TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr8:133900513_133900517delATTCA	uc003ytw.3	+	9	2502_2506	c.2461_2465delATTCA	c.(2461-2466)attcaafs	p.I821fs		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	821	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGTCTCTTTATTCAAAGTCTGTAT	0.527													20	41	---	---	---	---						-	133900517	ATTCA	-	133900513	7	5	298	1	0	1	0	1	0	0	0	0	15810	449	16	0	2499	0	TG	8	133900513	Frame_Shift_Del	DEL	ATTCA	TCGA-ET-A25I-01A-11D-A16O-08	56132190	133900513	12463509	8	5142											
TTF1	7270	broad.mit.edu	37	chr9	135275452	135275452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattccttaaaccgttccaAgtcgtcccggtacatccgct	6	14	0	0			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr9:135275452A>G	uc004cbl.3	-	2	1630	c.1561T>C	c.(1561-1563)Ttg>Ctg	p.L521L	TTF1_uc004cbm.3_Silent_p.L6L|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	521					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AACCGTTCCAAGTCGTCCCGG	0.473													54	101					0	0	1	0	0	G	135275452	A	G	135275452	2	3	298	1	0	0	0	0	0	0	0	1	16715	69	3	3		3	TTF1	9	135275452	Silent	SNP	A	TCGA-ET-A25I-01A-11D-A16O-08		135275452	5937979	9	5143											
AGAP2	116986	broad.mit.edu	37	chr12	58131103	58131103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcccggggggctgcgcGgaagcagcggtgacagcagt	20	11	0	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr12:58131103G>A	uc001spq.3	-	0	927	c.927C>T	c.(925-927)tcC>tcT	p.S309S	AGAP2_uc001spp.3_Silent_p.S309S|AGAP2_uc001spr.3_Intron	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	309	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R309C(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGGCTGCGCGGAAGCAGCGG	0.687													3	58					0	0	1	0	0	A	58131103	G	A	58131103	2	1	298	1	0	0	0	0	0	0	0	1	368	1103	39	1		1	AGAP2	12	58131103	Silent	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		58131103	75720792	10	5144											
TBC1D4	9882	broad.mit.edu	37	chr13	75936554	75936554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctgttcgtgcaggcTgaacttctccatgcagtcat	11	12	2	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr13:75936554T>C	uc001vjl.1	-	1	1035	c.688A>G	c.(688-690)Agc>Ggc	p.S230G	TBC1D4_uc010aer.2_Missense_Mutation_p.S230G|TBC1D4_uc010aes.2_Missense_Mutation_p.S230G	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	230						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCGTGCAGGCTGAACTTCTCC	0.597													4	160					0	0	1	0	0	C	75936554	T	C	75936554	3	2	298	1	0	0	0	0	1	0	0	0	15619	1580	55	3	3288	3	TBC1D4	13	75936554	Missense_Mutation	SNP	T	TCGA-ET-A25I-01A-11D-A16O-08		75936554	39233324	11	5145											
C14orf49	161176	broad.mit.edu	37	chr14	95906371	95906371	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagctggtggctgaaggtGcagtgctcctgcacactctg	14	11	1	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr14:95906371G>C	uc001yei.4	-	10	1968	c.1953C>G	c.(1951-1953)tgC>tgG	p.C651W	C14orf49_uc010avi.3_Missense_Mutation_p.C651W	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	651					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGCTGAAGGTGCAGTGCTCCT	0.682													40	85					0	0	1	0	0	C	95906371	G	C	95906371	3	2	298	1	0	0	0	0	1	0	0	0	1776	1311	46	4	1002	4	C14orf49	14	95906371	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		95906371	11443169	12	5146											
SMG1	23049	broad.mit.edu	37	chr16	18823096	18823096	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggtcacctgttcagcaactGacatcctcctattcggatca	7	14	3	1			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr16:18823096G>A	uc002dfm.3	-	61	11258	c.10895C>T	c.(10894-10896)tCa>tTa	p.S3632L	SMG1_uc010bwb.3_Missense_Mutation_p.S3492L|SMG1_uc010bwa.3_Missense_Mutation_p.S2363L|SMG1_uc021tec.1_5'Flank	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3632	FATC.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCAGCAACTGACATCCTCCT	0.443													13	345					0	0	1	0	0	A	18823096	G	A	18823096	3	1	298	1	0	0	0	0	1	0	0	0	14795	1294	45	2	98	2	SMG1	16	18823096	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		18823096	71531657	13	5147											
UNC45B	146862	broad.mit.edu	37	chr17	33507620	33507620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttgccagacatcgagaaCtacatgtttgagaatcatga	9	9	1	4			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:33507620C>A	uc002hja.3	+	17	2401	c.2304C>A	c.(2302-2304)aaC>aaA	p.N768K	UNC45B_uc002hjb.3_Missense_Mutation_p.N766K|UNC45B_uc002hjc.3_Missense_Mutation_p.N766K|UNC45B_uc010cto.3_Missense_Mutation_p.N687K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	768					cell differentiation|muscle organ development	cytosol	binding	p.E767K(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACATCGAGAACTACATGTTTG	0.557													30	63					0	0	1	0	0	A	33507620	C	A	33507620	3	1	298	1	0	0	0	0	1	0	0	0	16986	564	20	4	2370	4	UNC45B	17	33507620	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		33507620	47687590	14	5148											
KRT35	3886	broad.mit.edu	37	chr17	39633418	39633418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagggaaggcatgacttggAgggtgagtagtcaggtgcac	17	6	1	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:39633418A>G	uc002hws.3	-	6	1301	c.1258T>C	c.(1258-1260)Tcc>Ccc	p.S420P		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	420	Tail.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CATGACTTGGAGGGTGAGTAG	0.542													3	65					0	0	1	0	0	G	39633418	A	G	39633418	3	3	298	1	0	0	0	0	1	0	0	0	8472	304	11	3	113	3	KRT35	17	39633418	Missense_Mutation	SNP	A	TCGA-ET-A25I-01A-11D-A16O-08	6125798	39633418	41561792	15	5149											
CPNE1	8904	broad.mit.edu	37	chr20	34218857	34218857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccacgctgcccacactccAcagtgccatcaggtactcat	6	17	2	0			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr20:34218857A>G	uc010zvj.2	-	10	1343	c.976T>C	c.(976-978)Tgg>Cgg	p.W326R	CPNE1_uc002xde.3_Missense_Mutation_p.W297R|CPNE1_uc002xdf.3_Missense_Mutation_p.W321R|CPNE1_uc002xdi.3_Missense_Mutation_p.W321R|CPNE1_uc002xdj.3_Missense_Mutation_p.W321R|CPNE1_uc002xdl.3_Missense_Mutation_p.W321R|CPNE1_uc002xdm.3_Missense_Mutation_p.W321R|CPNE1_uc010gfk.2_3'UTR	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	321	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCCACACTCCACAGTGCCATC	0.572													4	88					0	0	1	0	0	G	34218857	A	G	34218857	3	3	298	1	0	0	0	0	1	0	0	0	3811	159	6	3	676	3	CPNE1	20	34218857	Missense_Mutation	SNP	A	TCGA-ET-A25I-01A-11D-A16O-08		34218857	28806663	16	5150											
PWP2	5822	broad.mit.edu	37	chr21	45542148	45542148	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaccctgagaacgcggTgcagacgggctccattgagg	16	11	0	3			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr21:45542148T>A	uc002zeb.3	+	13	1817	c.1727T>A	c.(1726-1728)gTg>gAg	p.V576E		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	576						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAGAACGCGGTGCAGACGGGC	0.582													18	100					0	0	1	0	0	A	45542148	T	A	45542148	3	1	298	1	0	0	0	0	1	0	0	0	12844	1696	59	5	1781	5	PWP2	21	45542148	Missense_Mutation	SNP	T	TCGA-ET-A25I-01A-11D-A16O-08		45542148	2587747	17	5151											
GAB4	128954	broad.mit.edu	37	chr22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggttcaggttgatggtgCgcaggggcttcttggagcca	17	7	2	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr22:17472966C>T	uc002zlw.3	-	1	383	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_uc010gqs.1_Missense_Mutation_p.R92H	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	92	PH.							p.R92P(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502													18	244					0	0	1	0	0	T	17472966	C	T	17472966	3	4	298	1	0	0	0	0	1	0	0	0	6151	768	27	1	1485	1	GAB4	22	17472966	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		17472966	33831600	18	5152											
NHS	4810	broad.mit.edu	37	chrX	17743871	17743871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaatgatttcagtgaggctCcaagcagcccgagtgcccag	11	12	1	2			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chrX:17743871C>T	uc011mix.2	+	6	1983	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	NHS_uc004cxx.3_Missense_Mutation_p.P528S|NHS_uc004cxy.3_Missense_Mutation_p.P372S|NHS_uc004cxz.3_Missense_Mutation_p.P351S|NHS_uc004cya.3_Missense_Mutation_p.P251S	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	528						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTGAGGCTCCAAGCAGCCC	0.542													26	60					0	0	1	0	0	T	17743871	C	T	17743871	3	4	298	1	0	0	0	0	1	0	0	0	10411	855	30	2	1709	2	NHS	23	17743871	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		17743871	137526689	19	5153											
PLXNB3	5365	broad.mit.edu	37	chrX	153033718	153033718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtaggattcccccgagtcGtacccctgtggcgacgagca	12	14	0	0			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chrX:153033718G>A	uc010nuk.2	+	4	1441	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.S49S|PLXNB3_uc004fii.2_Silent_p.S367S|PLXNB3_uc011mzd.1_Silent_p.S6S	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	367	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCGAGTCGTACCCCTGTG	0.687													37	51					0	0	1	0	0	A	153033718	G	A	153033718	2	1	298	1	0	0	0	0	0	0	0	1	12125	1132	40	1		1	PLXNB3	23	153033718	Silent	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08	135289847	153033718	2236842	20	5154											
CEP350	9857	broad.mit.edu	37	chr1	180062807	180062807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgagactagttttgctAaaggattttgggccggagtg	15	4	0	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr1:180062807A>G	uc001gnt.3	+	33	7950	c.7567A>G	c.(7567-7569)Aaa>Gaa	p.K2523E	CEP350_uc009wxl.2_Missense_Mutation_p.K2522E|CEP350_uc001gnv.3_Missense_Mutation_p.K658E|CEP350_uc001gnw.1_Missense_Mutation_p.K280E|CEP350_uc001gnx.1_Missense_Mutation_p.K280E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2523	CAP-Gly.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGTTTTGCTAAAGGATTTTG	0.383													37	44					0	0	1	0	0	G	180062807	A	G	180062807	3	3	299	1	0	0	0	0	1	0	0	0	3254	363	13	3	7697	3	CEP350	1	180062807	Missense_Mutation	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08		180062807	69187814	1	5155											
YSK4	80122	broad.mit.edu	37	chr2	135745373	135745373	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcttcttcaggttttcGcgttttactaccatggcagt	8	10	3	0			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr2:135745373G>A	uc002tue.1	-	6	1100	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Nonsense_Mutation_p.R244*|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Nonsense_Mutation_p.R85*|YSK4_uc002tui.4_Nonsense_Mutation_p.R374*	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	357							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGGTTTTCGCGTTTTACTA	0.378													20	31					0	0	1	0	0	A	135745373	G	A	135745373	4	1	299	1	0	0	0	0	0	1	0	0	17492	1095	38	1	2933	1	YSK4	2	135745373	Nonsense_Mutation	SNP	G	TCGA-ET-A25J-01A-11D-A16O-08		135745373	107454000	2	5156											
GTDC1	79712	broad.mit.edu	37	chr2	144704667	144704667	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcagagacctgaatttaccAtgtagggctgcccaagaaaa	10	9	0	3			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr2:144704667A>T	uc002tvp.3	-	11	1608	c.1329T>A	c.(1327-1329)caT>caA	p.H443Q	GTDC1_uc002tvo.3_3'UTR|GTDC1_uc021vqf.1_Missense_Mutation_p.H358Q|GTDC1_uc010fnn.3_Missense_Mutation_p.H443Q|GTDC1_uc002tvs.3_Missense_Mutation_p.H411Q|GTDC1_uc021vqg.1_Missense_Mutation_p.H325Q|GTDC1_uc002tvr.3_Missense_Mutation_p.H358Q|GTDC1_uc010fno.3_Missense_Mutation_p.H314Q	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	443					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGAATTTACCATGTAGGGCTG	0.448													29	55					0	0	1	0	0	T	144704667	A	T	144704667	3	4	299	1	0	0	0	0	1	0	0	0	6851	214	8	5	51	5	GTDC1	2	144704667	Missense_Mutation	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08	8959294	144704667	98494706	3	5157											
SHQ1	55164	broad.mit.edu	37	chr3	72890283	72890283	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgatacctcttcacaGggtgtctgctcaatttccca	6	13	5	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr3:72890283G>C	uc003dpf.3	-	3	506	c.399C>G	c.(397-399)ccC>ccG	p.P133P	SHQ1_uc010hod.3_Silent_p.P44P	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	133					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.P133P(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCTCTTCACAGGGTGTCTGCT	0.393													31	44					0	0	1	0	0	C	72890283	G	C	72890283	2	2	299	1	0	0	0	0	0	0	0	1	14292	987	35	4		4	SHQ1	3	72890283	Silent	SNP	G	TCGA-ET-A25J-01A-11D-A16O-08		72890283	125132147	4	5158											
SLC6A3	6531	broad.mit.edu	37	chr5	1403135	1403135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccagcccagcgcgttggCccagtcggggaagatgtagg	16	12	0	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr5:1403135C>T	uc003jck.3	-	12	1795	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	557					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCGCGTTGGCCCAGTCGGGG	0.612													3	23					0	0	1	0	0	T	1403135	C	T	1403135	3	4	299	1	0	0	0	0	1	0	0	0	14685	739	26	2	205	2	SLC6A3	5	1403135	Missense_Mutation	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08		1403135	179512125	5	5159											
TREML2	79865	broad.mit.edu	37	chr6	41162468	41162468	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatcacaccagtggtaaaAggggcatcagggcctgaggt	13	10	2	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr6:41162468A>G	uc010jxm.1	-	2	659	c.480T>C	c.(478-480)ccT>ccC	p.P160P		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	160					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGTGGTAAAAGGGGCATCAG	0.542													3	46					0	0	1	0	0	G	41162468	A	G	41162468	2	3	299	1	0	0	0	0	0	0	0	1	16470	59	3	3		3	TREML2	6	41162468	Silent	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08		41162468	129952599	6	5160											
KIAA0240	23506	broad.mit.edu	37	chr6	42796798	42796798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatattaaagggcagcgggCagcaagccccatcaaatgtg	11	10	2	0			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr6:42796798C>T	uc003osn.1	+	5	878	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	KIAA0240_uc003osm.1_Nonsense_Mutation_p.Q243*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.Q243*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.Q243*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.Q243*	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	243								p.G242V(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GGGCAGCGGGCAGCAAGCCCC	0.438													32	47					0	0	1	0	0	T	42796798	C	T	42796798	4	4	299	1	0	0	0	0	0	1	0	0	8164	711	25	2	741	2	KIAA0240	6	42796798	Nonsense_Mutation	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08	1634330	42796798	128318269	7	5161											
SDK1	221935	broad.mit.edu	37	chr7	4008968	4008968	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggtctacagatcgcgccCgtcttcatccaggatgccgg	14	13	3	1			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr7:4008968C>A	uc003smx.3	+	10	1765	c.1626C>A	c.(1624-1626)ccC>ccA	p.P542P		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	542	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.P542P(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGATCGCGCCCGTCTTCATCC	0.552													7	278					0	0	1	0	0	A	4008968	C	A	4008968	2	1	299	1	0	0	0	0	0	0	0	1	13968	639	23	4		4	SDK1	7	4008968	Silent	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08		4008968	155129695	8	5162											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				29	36					0	0	1	0	0	T	140453136	A	T	140453136	3	4	299	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08	136444168	140453136	18685527	9	5163											
IPMK	253430	broad.mit.edu	37	chr10	59956151	59956151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcatacatcttggacaagcTtttgcccactgaagactcta	7	12	2	2			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr10:59956151T>C	uc001jkb.3	-	5	1260	c.937A>G	c.(937-939)Agc>Ggc	p.S313G		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	Homo sapiens inositol polyphosphate multikinase (IPMK), mRNA.	313						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TTGGACAAGCTTTTGCCCACT	0.383													3	153					0	0	1	0	0	C	59956151	T	C	59956151	3	2	299	1	0	0	0	0	1	0	0	0	7792	1609	56	3	317	3	IPMK	10	59956151	Missense_Mutation	SNP	T	TCGA-ET-A25J-01A-11D-A16O-08		59956151	75578596	10	5164											
KIF1B	23095	broad.mit.edu	37	chr1	10397153	10397153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttttcgtctgttgcaAtgactcgttctggtctgtcc	10	10	3	2			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr1:10397153A>G	uc001aqz.3	+	28	3230	c.3151A>G	c.(3151-3153)Atg>Gtg	p.M1051V	KIF1B_uc001aqw.4_Missense_Mutation_p.M1005V|KIF1B_uc001aqx.4_Missense_Mutation_p.M1051V|KIF1B_uc001aqy.3_Missense_Mutation_p.M1025V|KIF1B_uc001ara.3_Missense_Mutation_p.M1011V|KIF1B_uc001arb.3_Missense_Mutation_p.M1037V	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1051					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTCTGTTGCAATGACTCGTTC	0.428													53	120					0	0	1	0	0	G	10397153	A	G	10397153	3	3	300	1	0	0	0	0	1	0	0	0	8284	101	4	3	4608	3	KIF1B	1	10397153	Missense_Mutation	SNP	A	TCGA-ET-A25K-01A-11D-A16O-08		10397153	238853468	1	5165											
CSMD2	114784	broad.mit.edu	37	chr1	34190211	34190211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcccgagtcacagctgaaGgtcaccagcgcgcccacgta	11	15	2	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr1:34190211G>A	uc001bxm.1	-	17	2967	c.2790C>T	c.(2788-2790)acC>acT	p.T930T	CSMD2_uc001bxn.1_Silent_p.T890T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	890	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGCTGAAGGTCACCAGCG	0.562													5	66					0	0	1	0	0	A	34190211	G	A	34190211	2	1	300	1	0	0	0	0	0	0	0	1	3945	987	35	2		2	CSMD2	1	34190211	Silent	SNP	G	TCGA-ET-A25K-01A-11D-A16O-08	23793058	34190211	215060410	2	5166											
VWA3B	200403	broad.mit.edu	37	chr2	98853095	98853095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcttggtcgccaagaaaCtcaccctcatggatgccttg	10	12	2	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr2:98853095C>A	uc002syo.3	+	18	2839	c.2575C>A	c.(2575-2577)Ctc>Atc	p.L859I	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.L378I|VWA3B_uc002sym.3_Missense_Mutation_p.L859I|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.L516I|VWA3B_uc002syp.1_Missense_Mutation_p.L251I|VWA3B_uc002syq.1_Missense_Mutation_p.L135I|VWA3B_uc002syr.1_Missense_Mutation_p.L176I|VWA3B_uc010fih.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	859										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGCCAAGAAACTCACCCTCAT	0.478													8	93					0	0	1	0	0	A	98853095	C	A	98853095	3	1	300	1	0	0	0	0	1	0	0	0	17238	565	20	4	2645	4	VWA3B	2	98853095	Missense_Mutation	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		98853095	144346278	3	5167											
RANBP2	5903	broad.mit.edu	37	chr2	109382494	109382494	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagttgcatgactcttcTggaagtcaggtgggaacagg	14	6	3	2			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr2:109382494T>G	uc002tem.4	+	19	5625	c.5499T>G	c.(5497-5499)tcT>tcG	p.S1833S		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1833					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATGACTCTTCTGGAAGTCAGG	0.413													29	65					0	0	1	0	0	G	109382494	T	G	109382494	2	3	300	1	0	0	0	0	0	0	0	1	13028	1567	55	5		5	RANBP2	2	109382494	Silent	SNP	T	TCGA-ET-A25K-01A-11D-A16O-08	10529399	109382494	133816879	4	5168											
TTN	7273	broad.mit.edu	37	chr2	179455272	179455272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaccatcactgagaggctTtgtccacaccaaatcagctg	7	14	2	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr2:179455272T>G	uc021vsy.1	-	252	53701	c.53476A>C	c.(53476-53478)Aag>Cag	p.K17826Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K11521Q|TTN_uc021vta.1_Missense_Mutation_p.K11454Q|TTN_uc021vtb.1_Missense_Mutation_p.K11329Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18753	Ig-like 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGAGGCTTTGTCCACACC	0.443													54	94					0	0	1	0	0	G	179455272	T	G	179455272	3	3	300	1	0	0	0	0	1	0	0	0	16732	1850	64	5	47035	5	TTN	2	179455272	Missense_Mutation	SNP	T	TCGA-ET-A25K-01A-11D-A16O-08	70072778	179455272	63744101	5	5169											
FILIP1L	11259	broad.mit.edu	37	chr3	99569769	99569769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgaagggtgagctgtgCcgtcagcctttgctgttcat	12	9	3	2			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr3:99569769C>T	uc003dtm.3	-	4	1214	c.751G>A	c.(751-753)Gca>Aca	p.A251T	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.A251T|FILIP1L_uc010hpf.3_Intron|FILIP1L_uc010hpg.3_Missense_Mutation_p.A11T|FILIP1L_uc003dtn.3_Missense_Mutation_p.A11T|FILIP1L_uc021xbr.1_Missense_Mutation_p.A11T|FILIP1L_uc003dtp.1_Missense_Mutation_p.A11T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	251						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTGAGCTGTGCCGTCAGCCTT	0.488													4	144					0	0	1	0	0	T	99569769	C	T	99569769	3	4	300	1	0	0	0	0	1	0	0	0	5895	739	26	2	2685	2	FILIP1L	3	99569769	Missense_Mutation	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		99569769	98452661	6	5170											
MANBA	4126	broad.mit.edu	37	chr4	103557044	103557044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagtgtcatcgaataatccGagtgaagatctgacacacca	9	9	2	4			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr4:103557044G>A	uc003hwg.3	-	14	2235	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	MANBA_uc011ces.2_Missense_Mutation_p.S655L	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	712					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CGAATAATCCGAGTGAAGATC	0.363													4	69					0	0	1	0	0	A	103557044	G	A	103557044	3	1	300	1	0	0	0	0	1	0	0	0	9219	1059	37	1	516	1	MANBA	4	103557044	Missense_Mutation	SNP	G	TCGA-ET-A25K-01A-11D-A16O-08		103557044	87597232	7	5171											
FHL5	9457	broad.mit.edu	37	chr6	97051492	97051492	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcataggatcaaaccaaaatGacaactgctcacttttactg	5	10	3	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr6:97051492G>C	uc003pos.2	+	2	419	c.3G>C	c.(1-3)atG>atC	p.M1I	FHL5_uc003pot.2_Missense_Mutation_p.M1I	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	1						nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAACCAAAATGACAACTGCTC	0.318													4	73					0	0	1	0	0	C	97051492	G	C	97051492	3	2	300	1	0	0	0	0	1	0	0	0	5881	1290	45	4	5	4	FHL5	6	97051492	Missense_Mutation	SNP	G	TCGA-ET-A25K-01A-11D-A16O-08		97051492	74063575	8	5172											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	41					0	0	1	0	0	T	140453136	A	T	140453136	3	4	300	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25K-01A-11D-A16O-08		140453136	18685527	9	5173											
RABEP1	9135	broad.mit.edu	37	chr17	5253769	5253769	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctcttggagcaagagCgacaacaacacaaccagtta	8	12	1	1			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr17:5253769C>T	uc002gbm.4	+	6	1032	c.808C>T	c.(808-810)Cga>Tga	p.R270*	RABEP1_uc010clc.1_Nonsense_Mutation_p.R263*|RABEP1_uc010cld.1_Nonsense_Mutation_p.R227*|RABEP1_uc010vsw.1_Nonsense_Mutation_p.R227*|RABEP1_uc002gbl.4_Nonsense_Mutation_p.R270*	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	270					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GGAGCAAGAGCGACAACAACA	0.418													8	85					0	0	1	0	0	T	5253769	C	T	5253769	4	4	300	1	0	0	0	0	0	1	0	0	12961	760	27	1	834	1	RABEP1	17	5253769	Nonsense_Mutation	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		5253769	75941441	10	5174											
ZNF512B	57473	broad.mit.edu	37	chr20	62592689	62592689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcttcaggatgtggtaTttgacgccactctcagaact	11	9	3	2			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr20:62592689T>C	uc002yhl.1	-	15	2454	c.2400A>G	c.(2398-2400)aaA>aaG	p.K800K		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGATGTGGTATTTGACGCCAC	0.647													3	56					0	0	1	0	0	C	62592689	T	C	62592689	2	2	300	1	0	0	0	0	0	0	0	1	17954	1490	52	3		3	ZNF512B	20	62592689	Silent	SNP	T	TCGA-ET-A25K-01A-11D-A16O-08		62592689	432831	11	5175											
SPAG17	200162	broad.mit.edu	37	chr1	118644485	118644485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcttggcacttggagccTttttctccttgggagatttt	11	9	1	1			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr1:118644485T>C	uc001ehk.2	-	4	580	c.512A>G	c.(511-513)aAg>aGg	p.K171R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	171	Lys-rich.					cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTGGAGCCTTTTTCTCCTT	0.438													3	114					0	0	1	0	0	C	118644485	T	C	118644485	3	2	301	1	0	0	0	0	1	0	0	0	14979	1609	56	3	6335	3	SPAG17	1	118644485	Missense_Mutation	SNP	T	TCGA-ET-A25O-01A-11D-A17V-08		118644485	130606136	1	5176											
NBEAL2	23218	broad.mit.edu	37	chr3	47030166	47030166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcctacagaaggaccTgggttacctgcagcagtggc	13	11	1	1			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr3:47030166T>C	uc003cqp.3	+	1	238	c.59T>C	c.(58-60)cTg>cCg	p.L20P	NBEAL2_uc003cqq.1_Missense_Mutation_p.L13P	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	20							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGAAGGACCTGGGTTACCTG	0.562													3	110					0	0	1	0	0	C	47030166	T	C	47030166	3	2	301	1	0	0	0	0	1	0	0	0	10189	1580	55	3	65	3	NBEAL2	3	47030166	Missense_Mutation	SNP	T	TCGA-ET-A25O-01A-11D-A17V-08		47030166	150992264	2	5177											
SEC24D	9871	broad.mit.edu	37	chr4	119754779	119754779	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccccatagtgcccataatGaggtggagaaaggcctattc	10	10	0	2			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr4:119754779G>A	uc003icj.4	-	1	345	c.73C>T	c.(73-75)Cat>Tat	p.H25Y	SEC24D_uc003ici.4_Missense_Mutation_p.H25Y|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	25	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TGCCCATAATGAGGTGGAGAA	0.443													41	64					0	0	1	0	0	A	119754779	G	A	119754779	3	1	301	1	0	0	0	0	1	0	0	0	13997	1290	45	2	3113	2	SEC24D	4	119754779	Missense_Mutation	SNP	G	TCGA-ET-A25O-01A-11D-A17V-08		119754779	71399497	3	5178											
OCLN	100506658	broad.mit.edu	37	chr5	68805542	68805542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcttctggatctctatatGgttcacaaatatatgccctc	6	10	4	0			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr5:68805542G>A	uc003jwu.3	+	2	1061	c.625G>A	c.(625-627)Ggt>Agt	p.G209S	OCLN_uc003jwv.4_Missense_Mutation_p.G209S|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	209	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATCTCTATATGGTTCACAAAT	0.423													76	97					0	0	1	0	0	A	68805542	G	A	68805542	3	1	301	1	0	0	0	0	1	0	0	0	10820	1348	47	2	631	2	OCLN	5	68805542	Missense_Mutation	SNP	G	TCGA-ET-A25O-01A-11D-A17V-08		68805542	112109718	4	5179											
MAS1L	116511	broad.mit.edu	37	chr6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagattccttcagccTtttctttctgaggctcccca	7	13	4	3			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr6:29454710T>C	uc011dlq.2	-	0	970	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	324						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.R324G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463													3	126					0	0	1	0	0	C	29454710	T	C	29454710	3	2	301	1	0	0	0	0	1	0	0	0	9321	1608	56	3	168	3	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-ET-A25O-01A-11D-A17V-08		29454710	141660357	5	5180											
PKHD1	5314	broad.mit.edu	37	chr6	51900420	51900420	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttgcactgaattctgcttGaattgcttgtagcgacattg	9	8	1	2			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr6:51900420G>A	uc003pah.1	-	27	3473	c.3197C>T	c.(3196-3198)tCa>tTa	p.S1066L	PKHD1_uc003pai.3_Missense_Mutation_p.S1066L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1066	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATTCTGCTTGAATTGCTTGT	0.453													43	47					0	0	1	0	0	A	51900420	G	A	51900420	3	1	301	1	0	0	0	0	1	0	0	0	11971	1294	45	2	9226	2	PKHD1	6	51900420	Missense_Mutation	SNP	G	TCGA-ET-A25O-01A-11D-A17V-08	22445710	51900420	119214647	6	5181											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	20					0	0	1	0	0	T	140453136	A	T	140453136	3	4	301	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08		140453136	18685527	7	5182											
LRIT1	26103	broad.mit.edu	37	chr10	85997395	85997395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctggaggtgtccggggggAtggacgccgggggcagggtc	23	8	1	0			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr10:85997395A>G	uc001kcz.1	-	1	192	c.170T>C	c.(169-171)aTc>aCc	p.I57T		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	57	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTCCGGGGGGATGGACGCCGG	0.667													3	72					0	0	1	0	0	G	85997395	A	G	85997395	3	3	301	1	0	0	0	0	1	0	0	0	8947	333	12	3	1713	3	LRIT1	10	85997395	Missense_Mutation	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08		85997395	49537352	8	5183											
NOLC1	9221	broad.mit.edu	37	chr10	103921613	103921613	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaagggcatcatccccAttccgaagggtcagggagga	13	9	2	0			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr10:103921613A>T	uc001kup.2	+	11	2137	c.1902A>T	c.(1900-1902)ccA>ccT	p.P634P	NOLC1_uc001kuo.2_Silent_p.P624P|NOLC1_uc001kuq.2_Silent_p.P625P|NOLC1_uc009xxb.1_Silent_p.P343P|NOLC1_uc001kur.2_Silent_p.P343P	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	624					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CATCATCCCCATTCCGAAGGG	0.473													24	40					0	0	1	0	0	T	103921613	A	T	103921613	2	4	301	1	0	0	0	0	0	0	0	1	10529	204	8	5		5	NOLC1	10	103921613	Silent	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08	17924218	103921613	31613134	9	5184											
MAN2C1	4123	broad.mit.edu	37	chr15	75660529	75660529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccacagggcagctggCcccaaaaagcctgcgtggga	13	14	0	0			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr15:75660529C>T	uc002bah.3	-	1	129	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	MAN2C1_uc010bkk.3_Missense_Mutation_p.A38T|MAN2C1_uc002baf.3_Missense_Mutation_p.A38T|MAN2C1_uc002bag.3_Missense_Mutation_p.A38T|MAN2C1_uc010umi.1_5'UTR|MAN2C1_uc010umj.1_Non-coding_Transcript|MAN2C1_uc010umk.1_Non-coding_Transcript			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	38					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGGCAGCTGGCCCCAAAAAGC	0.711													5	8					0	0	1	0	0	T	75660529	C	T	75660529	3	4	301	1	0	0	0	0	1	0	0	0	9218	739	26	2	3110	2	MAN2C1	15	75660529	Missense_Mutation	SNP	C	TCGA-ET-A25O-01A-11D-A17V-08		75660529	26870863	10	5185											
LRRC37A2	474170	broad.mit.edu	37	chr17	44626432	44626432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaataccgctttcacaaAactcgctcccacgtgaccca	4	15	1	1			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr17:44626432A>C	uc002ikn.1	+	8	3930	c.3927A>C	c.(3925-3927)aaA>aaC	p.K1309N	ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.K270N|LRRC37A2_uc010dax.2_Missense_Mutation_p.K239N	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.	1309						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCTTTCACAAAACTCGCTCCC	0.428													68	243					0	0	1	0	0	C	44626432	A	C	44626432	3	2	301	1	0	0	0	0	1	0	0	0	8992	11	1	5	3961	5	LRRC37A2	17	44626432	Missense_Mutation	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08		44626432	36568778	11	5186											
CCDC30	728621	broad.mit.edu	37	chr1	43047065	43047065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaattagaacatgctcAtaaagtctgtctcacagaca	8	9	3	2			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr1:43047065A>G	uc009vwk.1	+	7	1210	c.1100A>G	c.(1099-1101)cAt>cGt	p.H367R	CCDC30_uc001chm.2_Missense_Mutation_p.H65R|CCDC30_uc001chn.2_Missense_Mutation_p.H156R|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Missense_Mutation_p.H181R	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	367										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAACATGCTCATAAAGTCTGT	0.348													6	88					0	0	1	0	0	G	43047065	A	G	43047065	3	3	302	1	0	0	0	0	1	0	0	0	2805	217	8	3	1126	3	CCDC30	1	43047065	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		43047065	206203556	1	5187											
ANKRD35	148741	broad.mit.edu	37	chr1	145561416	145561416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggcctggaggggatggCatggagcagggttgtcctaa	17	9	0	0			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr1:145561416C>T	uc001eob.1	+	9	1212	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	ANKRD35_uc010oyx.1_Silent_p.G211G	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	368										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGGGATGGCATGGAGCAGG	0.567													17	19					0	0	1	0	0	T	145561416	C	T	145561416	2	4	302	1	0	0	0	0	0	0	0	1	664	697	25	2		2	ANKRD35	1	145561416	Silent	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08	102514351	145561416	103689205	2	5188											
TMCC1	23023	broad.mit.edu	37	chr3	129389296	129389296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatctcctggatctcatgtAgtagtgcatcaaatcctgag	10	9	3	1			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr3:129389296A>T	uc021xdy.1	-	3	1822	c.1388T>A	c.(1387-1389)cTa>cAa	p.L463Q	TMCC1_uc003emy.4_Missense_Mutation_p.L139Q|TMCC1_uc011blc.2_Missense_Mutation_p.L284Q|TMCC1_uc010htg.3_Missense_Mutation_p.L349Q	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	463						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GATCTCATGTAGTAGTGCATC	0.502													9	122					0	0	1	0	0	T	129389296	A	T	129389296	3	4	302	1	0	0	0	0	1	0	0	0	15989	420	15	5	585	5	TMCC1	3	129389296	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		129389296	68633134	3	5189											
ADH7	131	broad.mit.edu	37	chr4	100341811	100341811	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatacactcagtggcacctAcagccatggccttctcaaat	7	13	2	1			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:100341811A>T	uc021xqj.1	-	5	794	c.764T>A	c.(763-765)gTa>gAa	p.V255E	ADH7_uc003huv.2_Missense_Mutation_p.V247E	NM_001166504	NP_001159976	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 1, mRNA.	247					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.P255P(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	AGTGGCACCTACAGCCATGGC	0.488													19	27					0	0	1	0	0	T	100341811	A	T	100341811	3	4	302	1	0	0	0	0	1	0	0	0	313	391	14	5	436	5	ADH7	4	100341811	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		100341811	90812465	4	5190											
WDR17	116966	broad.mit.edu	37	chr4	177095771	177095771	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatattctcttttagagcTcgaaatgagttgctgatatt	7	5	1	3			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:177095771T>C	uc003iuj.3	+	27	3771	c.3468T>C	c.(3466-3468)gcT>gcC	p.A1156A	WDR17_uc003ium.4_Silent_p.A1117A|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Silent_p.A367A	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1156										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTTAGAGCTCGAAATGAGT	0.333													10	41					0	0	1	0	0	C	177095771	T	C	177095771	2	2	302	1	0	0	0	0	0	0	0	1	17274	1538	54	3		3	WDR17	4	177095771	Silent	SNP	T	TCGA-ET-A25R-01A-11D-A17V-08	76753960	177095771	14058505	5	5191											
FAT1	2195	broad.mit.edu	37	chr4	187628248	187628248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctagtgatactttcacaaCgacagtggagaacagctgag	10	8	2	3			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:187628248C>T	uc003izf.3	-	1	2922	c.2734G>A	c.(2734-2736)Gtt>Att	p.V912I	FAT1_uc010iso.1_Missense_Mutation_p.V912I	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	912	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTTCACAACGACAGTGGAG	0.488										HNSCC(5;0.00058)			16	222					0	0	1	0	0	T	187628248	C	T	187628248	3	4	302	1	0	0	0	0	1	0	0	0	5689	536	19	1	11136	1	FAT1	4	187628248	Missense_Mutation	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08	10532477	187628248	3526028	6	5192											
GPR98	84059	broad.mit.edu	37	chr5	89979771	89979771	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggcctcatgggaaaagtCcttgtctcatatgcaacact	8	10	2	0			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr5:89979771C>T	uc003kju.3	+	27	6129	c.6033C>T	c.(6031-6033)gtC>gtT	p.V2011V	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2011					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGAAAAGTCCTTGTCTCAT	0.378													3	30					0	0	1	0	0	T	89979771	C	T	89979771	2	4	302	1	0	0	0	0	0	0	0	1	6721	842	30	2		2	GPR98	5	89979771	Silent	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08		89979771	90935489	7	5193											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	32					0	0	1	0	0	T	140453136	A	T	140453136	3	4	302	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		140453136	18685527	8	5194											
PRSS55	203074	broad.mit.edu	37	chr8	10387076	10387076	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccagaatcacaggggggAtggaggcggaggtgggtgag	20	5	1	2			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr8:10387076A>G	uc003wta.3	+	1	254	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.M72V|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	72	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CACAGGGGGGATGGAGGCGGA	0.507													4	306					0	0	1	0	0	G	10387076	A	G	10387076	3	3	302	1	0	0	0	0	1	0	0	0	12634	333	12	3	220	3	PRSS55	8	10387076	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		10387076	135976946	9	5195											
ITGA8	8516	broad.mit.edu	37	chr10	15646258	15646258	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttctggtatcattacAaagagttcagcttcatatgc	7	10	5	1			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr10:15646258A>G	uc001ioc.1	-	19	2067	c.2067T>C	c.(2065-2067)ttT>ttC	p.F689F	ITGA8_uc010qcb.1_Silent_p.F674F	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	689					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTATCATTACAAAGAGTTCAG	0.368													27	31					0	0	1	0	0	G	15646258	A	G	15646258	2	3	302	1	0	0	0	0	0	0	0	1	7882	127	5	3		3	ITGA8	10	15646258	Silent	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		15646258	119888489	10	5196											
UBQLN3	50613	broad.mit.edu	37	chr11	5530349	5530349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcagggaagccacgaTaggccaagcccagcctactg	13	13	1	0			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr11:5530349T>C	uc001may.1	-	1	526	c.440A>G	c.(439-441)tAt>tGt	p.Y147C	HBG1_uc001mak.1_Intron|UBQLN3_uc021qcw.1_Missense_Mutation_p.Y147C	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	147										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCCACGATAGGCCAAGCC	0.587													3	63					0	0	1	0	0	C	5530349	T	C	5530349	3	2	302	1	0	0	0	0	1	0	0	0	16895	1406	49	3	1531	3	UBQLN3	11	5530349	Missense_Mutation	SNP	T	TCGA-ET-A25R-01A-11D-A17V-08		5530349	129476167	11	5197											
MESP1	55897	broad.mit.edu	37	chr15	90293428	90293429	+	Missense_Mutation	DNP	CC	CC	TT													cgagaggggcatccaggtctCcaacagagccagcacgtcgc							TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr15:90293428_90293429CC>TT	uc002bol.3	-	1	831_832	c.753_754GG>AA	c.(751-756)ttggag>ttAAag	p.E252K		NM_018670	NP_061140	Q9BRJ9	MESP1_HUMAN	Homo sapiens mesoderm posterior 1 homolog (mouse) (MESP1), mRNA.	252					Notch signaling pathway|cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|positive regulation of Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ATCCAGGTCTCCAACAGAGCCA	0.649													6	113					0	0	1	0	0	TT	90293429	CC	TT	90293428	3	4	302	1	0	0	0	0	1	0	0	0	9482	864	30	2	56	2	MESP1	15	90293428	Missense_Mutation	DNP	CC	TCGA-ET-A25R-01A-11D-A17V-08		90293428	12237964	12	5198											
TNRC6B	23112	broad.mit.edu	37	chr22	40708536	40708536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggagtgccatggaaagGtatccaaaacattgaccctg	10	10	0	1			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr22:40708536G>A	uc011aor.2	+	17	4674	c.4463G>A	c.(4462-4464)gGt>gAt	p.G1488D	TNRC6B_uc003aym.3_Missense_Mutation_p.G684D|TNRC6B_uc003ayn.4_Missense_Mutation_p.G1378D|TNRC6B_uc003ayo.3_Missense_Mutation_p.G1235D	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1488					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCATGGAAAGGTATCCAAAAC	0.423													26	56					0	0	1	0	0	A	40708536	G	A	40708536	3	1	302	1	0	0	0	0	1	0	0	0	16338	1261	44	2	4654	2	TNRC6B	22	40708536	Missense_Mutation	SNP	G	TCGA-ET-A25R-01A-11D-A17V-08		40708536	10596030	13	5199											
CNR2	1269	broad.mit.edu	37	chr1	24201958	24201958	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agatagagcacagccacgttCtccagggcacttagcaggcc	11	13	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:24201958C>G	uc001bif.3	-	1	277	c.150G>C	c.(148-150)gaG>gaC	p.E50D	CNR2_uc021oij.1_Missense_Mutation_p.E50D	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	50					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	p.E50E(3)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CAGCCACGTTCTCCAGGGCAC	0.557													6	67					0	0	1	0	0	G	24201958	C	G	24201958	3	3	303	1	0	0	0	0	1	0	0	0	3632	912	32	4	936	4	CNR2	1	24201958	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		24201958	225048663	1	5200											
JUN	3725	broad.mit.edu	37	chr1	59248693	59248693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctctcggacgggaggaacGaggcgttgagggcatcgtca	17	10	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:59248693G>A	uc001cze.3	-	0	1093	c.50C>T	c.(49-51)tCg>tTg	p.S17L	LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	Homo sapiens jun proto-oncogene (JUN), mRNA.	17					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein import into nucleus|SMAD protein signal transduction|Toll signaling pathway|innate immune response|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CGGGAGGAACGAGGCGTTGAG	0.552			A		sarcoma								15	128					0	0	1	0	0	A	59248693	G	A	59248693	3	1	303	1	0	0	0	0	1	0	0	0	7969	1059	37	1	949	1	JUN	1	59248693	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	35046735	59248693	190001928	2	5201											
FLG2	388698	broad.mit.edu	37	chr1	152325779	152325779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccagatccccttcttcCagttgtactggaccctctct	8	15	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:152325779C>T	uc001ezw.4	-	2	4556	c.4483G>A	c.(4483-4485)Gga>Aga	p.G1495R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1495							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTTCTTCCAGTTGTACTG	0.522													10	414					0	0	1	0	0	T	152325779	C	T	152325779	3	4	303	1	0	0	0	0	1	0	0	0	5923	603	21	2	2696	2	FLG2	1	152325779	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	93077086	152325779	96924842	3	5202											
ABL2	27	broad.mit.edu	37	chr1	179077163	179077163	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctttgctgattttgtctgctGagattttctcagcggcctgt	10	9	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077163G>C	uc001gmj.4	-	11	3526	c.3239C>G	c.(3238-3240)tCa>tGa	p.S1080*	ABL2_uc010pnf.2_Nonsense_Mutation_p.S977*|ABL2_uc010png.2_Nonsense_Mutation_p.S956*|ABL2_uc010pnh.2_Nonsense_Mutation_p.S1059*|ABL2_uc001gmg.4_Nonsense_Mutation_p.S962*|ABL2_uc001gmi.4_Nonsense_Mutation_p.S1065*|ABL2_uc010pne.2_Nonsense_Mutation_p.S941*	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	1080	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTGTCTGCTGAGATTTTCTC	0.532			T	ETV6	AML								8	37					0	0	1	0	0	C	179077163	G	C	179077163	4	2	303	1	0	0	0	0	0	1	0	0	93	1294	45	4	313	4	ABL2	1	179077163	Nonsense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	26751384	179077163	70173458	4	5203											
ABL2	27	broad.mit.edu	37	chr1	179077269	179077269	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agatgtgggcagaggcacttGaggtggaggcatcactggcc	17	8	1	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077269G>A	uc001gmj.4	-	11	3420	c.3133C>T	c.(3133-3135)Caa>Taa	p.Q1045*	ABL2_uc010pnf.2_Nonsense_Mutation_p.Q942*|ABL2_uc010png.2_Nonsense_Mutation_p.Q921*|ABL2_uc010pnh.2_Nonsense_Mutation_p.Q1024*|ABL2_uc001gmg.4_Nonsense_Mutation_p.Q927*|ABL2_uc001gmi.4_Nonsense_Mutation_p.Q1030*|ABL2_uc010pne.2_Nonsense_Mutation_p.Q906*	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	1045	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGAGGCACTTGAGGTGGAGGC	0.552			T	ETV6	AML								10	91					0	0	1	0	0	A	179077269	G	A	179077269	4	1	303	1	0	0	0	0	0	1	0	0	93	1299	45	2	419	2	ABL2	1	179077269	Nonsense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	106	179077269	70173352	5	5204											
RNF2	6045	broad.mit.edu	37	chr1	185060797	185060797	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaatttgtttggatatgttGaagaacaccatgactacaaa	7	7	0	3	rs144442502	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:185060797G>C	uc001grc.1	+	2	407	c.174G>C	c.(172-174)ttG>ttC	p.L58F	RNF2_uc001grd.1_Missense_Mutation_p.L58F	NM_007212	NP_009143	Q99496	RING2_HUMAN	Homo sapiens ring finger protein 2 (RNF2), mRNA.	58	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TGGATATGTTGAAGAACACCA	0.388													7	141					0	0	1	0	0	C	185060797	G	C	185060797	3	2	303	1	0	0	0	0	1	0	0	0	13472	1281	45	4	180	4	RNF2	1	185060797	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	5983528	185060797	64189824	6	5205											
CACNA1S	779	broad.mit.edu	37	chr1	201009764	201009764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttacctggcagggggcagGaggtgcctggcctctgggca	18	10	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:201009764G>A	uc001gvv.3	-	41	5439	c.5212C>T	c.(5212-5214)Cct>Tct	p.P1738S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1738					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAGGGGGCAGGAGGTGCCTGG	0.607													4	57					0	0	1	0	0	A	201009764	G	A	201009764	3	1	303	1	0	0	0	0	1	0	0	0	2547	1174	41	2	421	2	CACNA1S	1	201009764	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	15948967	201009764	48240857	7	5206											
DTNB	1838	broad.mit.edu	37	chr2	25754346	25754346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtatacttacactaTatgtgcaaggtcaagtggtt	11	7	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:25754346T>C	uc002rgh.3	-	8	1247	c.997A>G	c.(997-999)Ata>Gta	p.I333V	DTNB_uc010yko.2_Missense_Mutation_p.I276V|DTNB_uc002rgi.3_Missense_Mutation_p.I333V|DTNB_uc002rgj.3_Missense_Mutation_p.I333V|DTNB_uc002rgk.3_Missense_Mutation_p.I333V|DTNB_uc002rgl.3_Missense_Mutation_p.I333V|DTNB_uc002rgq.3_Missense_Mutation_p.I333V|DTNB_uc002rgn.3_Missense_Mutation_p.I129V|DTNB_uc010ykp.2_Missense_Mutation_p.I129V|DTNB_uc002rgr.1_Missense_Mutation_p.I322V|DTNB_uc010ykq.1_Missense_Mutation_p.I186V	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	333						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTACACTATATGTGCAAGG	0.468													69	57					0	0	1	0	0	C	25754346	T	C	25754346	3	2	303	1	0	0	0	0	1	0	0	0	4789	1406	49	3	934	3	DTNB	2	25754346	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		25754346	217445027	8	5207											
ZNF512	84450	broad.mit.edu	37	chr2	27822493	27822493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaaggaaacccaggcaGgaagaagatgaagactatcg	14	6	0	4			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:27822493G>A	uc002rla.3	+	3	408	c.321G>A	c.(319-321)caG>caA	p.Q107Q	ZNF512_uc010ylw.2_Silent_p.Q106Q|ZNF512_uc002rlb.3_Silent_p.Q28Q|ZNF512_uc010ylx.2_Silent_p.Q28Q|ZNF512_uc002rlc.3_Silent_p.Q28Q|ZNF512_uc010ylv.2_Silent_p.Q28Q|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Silent_p.Q28Q	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AACCCAGGCAGGAAGAAGATG	0.408													4	49					0	0	1	0	0	A	27822493	G	A	27822493	2	1	303	1	0	0	0	0	0	0	0	1	17953	991	35	2		2	ZNF512	2	27822493	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	2068147	27822493	215376880	9	5208											
ERLEC1	27248	broad.mit.edu	37	chr2	54014378	54014378	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaggcggcggcgtacggagtCtggtcccgggcgggccggtg	22	11	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014378C>G	uc002rxl.3	+	0	311	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	GPR75-ASB3_uc021vhl.1_5'Flank|GPR75-ASB3_uc002rxg.2_5'Flank|GPR75-ASB3_uc002rxh.2_5'Flank|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_5'Flank|ERLEC1_uc002rxm.3_Missense_Mutation_p.L11V|ERLEC1_uc002rxn.3_Missense_Mutation_p.L11V	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	11					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CGTACGGAGTCTGGTCCCGGG	0.692													11	43					0	0	1	0	0	G	54014378	C	G	54014378	3	3	303	1	0	0	0	0	1	0	0	0	5231	912	32	4	33	4	ERLEC1	2	54014378	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	26191885	54014378	189184995	10	5209			1	11		2	2	33	C		7.442368e-05
ERLEC1	27248	broad.mit.edu	37	chr2	54014410	54014410	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggccggtgttactggtcctCtgcggcctcctggaggcgtc	16	13	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014410C>T	uc002rxl.3	+	0	343	c.63C>T	c.(61-63)ctC>ctT	p.L21L	GPR75-ASB3_uc021vhl.1_5'Flank|GPR75-ASB3_uc002rxg.2_5'Flank|GPR75-ASB3_uc002rxh.2_5'Flank|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_5'Flank|ERLEC1_uc002rxm.3_Silent_p.L21L|ERLEC1_uc002rxn.3_Silent_p.L21L	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	21					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TACTGGTCCTCTGCGGCCTCC	0.687													14	64					0	0	1	0	0	T	54014410	C	T	54014410	2	4	303	1	0	0	0	0	0	0	0	1	5231	900	32	2		2	ERLEC1	2	54014410	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	32	54014410	189184963	11	5210			1	11		2	2	33	C		7.442368e-05
RIF1	55183	broad.mit.edu	37	chr2	152320159	152320159	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaactaatactgtagaggaGaaaaatgtagaaattaattt	8	2	0	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:152320159G>A	uc002txm.3	+	29	4286	c.4125G>A	c.(4123-4125)gaG>gaA	p.E1375E	RIF1_uc002txn.3_Silent_p.E1375E|RIF1_uc002txl.3_Silent_p.E1375E|RIF1_uc002txo.3_Silent_p.E1375E|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1375					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTGTAGAGGAGAAAAATGTAG	0.353													18	54					0	0	1	0	0	A	152320159	G	A	152320159	2	1	303	1	0	0	0	0	0	0	0	1	13359	933	33	2		2	RIF1	2	152320159	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	98305749	152320159	90879214	12	5211											
FAP	2191	broad.mit.edu	37	chr2	163039925	163039925	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaatataaaacaactcaccCagccccatatggctattctt	3	12	2	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:163039925C>G	uc002ucd.3	-	21	2077	c.1869_splice	c.e21+1	p.W623_splice	FAP_uc010fpc.3_Splice_Site_p.W172_splice|FAP_uc010zct.2_Splice_Site_p.W598_splice	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	623					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACAACTCACCCAGCCCCATAT	0.303													3	108					0	0	1	0	0	G	163039925	C	G	163039925	5	3	303	1	0	0	0	0	0	0	1	0	5673	608	21	4	438	4	FAP	2	163039925	Splice_Site	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	10719766	163039925	80159448	13	5212											
PPIG	9360	broad.mit.edu	37	chr2	170493789	170493789	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtcgtgatcataatagctCaaataacagcagggaaaaaa	8	6	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:170493789C>T	uc002uez.3	+	13	2241	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	PPIG_uc010fpx.3_Missense_Mutation_p.S659L|PPIG_uc010fpy.3_Missense_Mutation_p.S667L|PPIG_uc002ufb.3_Missense_Mutation_p.S674L|PPIG_uc002ufd.3_Missense_Mutation_p.S671L	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	674					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CATAATAGCTCAAATAACAGC	0.348													16	51					0	0	1	0	0	T	170493789	C	T	170493789	3	4	303	1	0	0	0	0	1	0	0	0	12324	838	29	2	2067	2	PPIG	2	170493789	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	7453864	170493789	72705584	14	5213											
ATG9A	79065	broad.mit.edu	37	chr2	220089873	220089873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatgaacttgataagccGgtggatccagaagacaccag	11	8	0	5			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:220089873G>A	uc002vke.1	-	6	622	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.R146W	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	146					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGATAAGCCGGTGGATCCAG	0.522													4	93					0	0	1	0	0	A	220089873	G	A	220089873	3	1	303	1	0	0	0	0	1	0	0	0	1102	1115	39	1	2123	1	ATG9A	2	220089873	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	49596084	220089873	23109500	15	5214											
NGEF	25791	broad.mit.edu	37	chr2	233757743	233757743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcctccatccggtgcTccagctccaggaggaaccta	9	15	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:233757743T>C	uc002vts.2	-	6	1255	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	NGEF_uc010zmm.1_Missense_Mutation_p.E59G|NGEF_uc010fyg.1_Missense_Mutation_p.E244G	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	336	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CATCCGGTGCTCCAGCTCCAG	0.592													3	63					0	0	1	0	0	C	233757743	T	C	233757743	3	2	303	1	0	0	0	0	1	0	0	0	10394	1551	54	3	1161	3	NGEF	2	233757743	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	13667870	233757743	9441630	16	5215											
NCKIPSD	51517	broad.mit.edu	37	chr3	48716069	48716069	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccatcatgtctgtgtggtaGaagatggcagctgtggccgg	16	8	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:48716069G>C	uc003cun.3	-	11	1987	c.1893C>G	c.(1891-1893)ttC>ttG	p.F631L	NCKIPSD_uc003cum.3_Missense_Mutation_p.F624L	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	631					NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTGTGGTAGAAGATGGCAG	0.582													12	58					0	0	1	0	0	C	48716069	G	C	48716069	3	2	303	1	0	0	0	0	1	0	0	0	10225	933	33	4	283	4	NCKIPSD	3	48716069	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		48716069	149306361	17	5216											
NISCH	11188	broad.mit.edu	37	chr3	52526232	52526232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgccgcgtccgggacctgGaccgagtgctcatgggctac	15	15	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526232G>A	uc003ded.4	+	20	4383	c.4249G>A	c.(4249-4251)Gac>Aac	p.D1417N	NISCH_uc003dee.4_Missense_Mutation_p.D906N|NISCH_uc003deg.1_Intron	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1417					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCGGGACCTGGACCGAGTGCT	0.637													27	112					0	0	1	0	0	A	52526232	G	A	52526232	3	1	303	1	0	0	0	0	1	0	0	0	10432	1174	41	2	4331	2	NISCH	3	52526232	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	3810163	52526232	145496198	18	5217											
NISCH	11188	broad.mit.edu	37	chr3	52526412	52526412	+	Missense_Mutation	SNP	G	G	A													aggtgtttgtccccagtgctGagagcagagagaagctcatc							TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526412G>A	uc003ded.4	+	20	4563	c.4429G>A	c.(4429-4431)Gag>Aag	p.E1477K	NISCH_uc003dee.4_Missense_Mutation_p.E966K|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1477					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCCCAGTGCTGAGAGCAGAGA	0.662													39	105					0	0	1	0	0	A	52526412	G	A	52526412	3	1	303	1	0	0	0	0	1	0	0	0	10432	1291	45	2	4511	2	NISCH	3	52526412	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	180	52526412	145496018	19	5218	4	2									
NISCH	11188	broad.mit.edu	37	chr3	52526419	52526419	+	Missense_Mutation	SNP	G	G	A													tgtccccagtgctgagagcaGagagaagctcatctcgctgt							TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526419G>A	uc003ded.4	+	20	4570	c.4436G>A	c.(4435-4437)aGa>aAa	p.R1479K	NISCH_uc003dee.4_Missense_Mutation_p.R968K|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1479					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GCTGAGAGCAGAGAGAAGCTC	0.657													32	92					0	0	1	0	0	A	52526419	G	A	52526419	3	1	303	1	0	0	0	0	1	0	0	0	10432	942	33	2	4518	2	NISCH	3	52526419	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	7	52526419	145496011	20	5219	4	2									
SLC33A1	9197	broad.mit.edu	37	chr3	155571317	155571317	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacctgagtggataaaTagatcatgaagagtcctagt	11	7	1	4			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:155571317T>C	uc003fan.4	-	0	932	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	SLC33A1_uc003fao.2_Missense_Mutation_p.Y157C	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	157					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTGGATAAATAGATCATGAA	0.488													3	59					0	0	1	0	0	C	155571317	T	C	155571317	3	2	303	1	0	0	0	0	1	0	0	0	14566	1406	49	3	1203	3	SLC33A1	3	155571317	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	103044898	155571317	42451113	21	5220											
RBPJ	3516	broad.mit.edu	37	chr4	26432321	26432321	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttcctcctcaggtgtggaGagagtatgctctgtgtcgtc	12	9	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr4:26432321G>A	uc003grx.2	+	11	1431	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	RBPJ_uc003gry.2_Missense_Mutation_p.E384K|RBPJ_uc003grz.2_Missense_Mutation_p.E399K|RBPJ_uc003gsa.2_Missense_Mutation_p.E385K|RBPJ_uc003gsb.2_Missense_Mutation_p.E386K	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	399	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	p.R398G(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAGGTGTGGAGAGAGTATGCT	0.408													5	56					0	0	1	0	0	A	26432321	G	A	26432321	3	1	303	1	0	0	0	0	1	0	0	0	13161	943	33	2	1300	2	RBPJ	4	26432321	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		26432321	164721955	22	5221											
GIN1	54826	broad.mit.edu	37	chr5	102444350	102444350	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagttgaatgatattcaccaGttcgtttgtaatatgcaatc	7	6	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr5:102444350G>C	uc003koa.1	-	1	144	c.62C>G	c.(61-63)aCt>aGt	p.T21S	GIN1_uc003kob.1_5'UTR|GIN1_uc003koc.1_Missense_Mutation_p.T21S	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.	21					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ATATTCACCAGTTCGTTTGTA	0.328													3	46					0	0	1	0	0	C	102444350	G	C	102444350	3	2	303	1	0	0	0	0	1	0	0	0	6386	1029	36	4	1534	4	GIN1	5	102444350	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		102444350	78470910	23	5222											
PKHD1	5314	broad.mit.edu	37	chr6	51613023	51613023	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccactttccttatagagatGaaggccatgaagacttgaat	8	8	0	5			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:51613023G>A	uc003pah.1	-	57	9667	c.9391C>T	c.(9391-9393)Cat>Tat	p.H3131Y	PKHD1_uc010jzn.1_Missense_Mutation_p.H1114Y|PKHD1_uc003pai.3_Missense_Mutation_p.H3131Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3131					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTATAGAGATGAAGGCCATGA	0.458													5	292					0	0	1	0	0	A	51613023	G	A	51613023	3	1	303	1	0	0	0	0	1	0	0	0	11971	1290	45	2	2912	2	PKHD1	6	51613023	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		51613023	119502044	24	5223											
USP45	85015	broad.mit.edu	37	chr6	99924037	99924037	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acctttgtttcttctgtcctCactgcatccagaagataatg	6	11	3	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:99924037C>G	uc003ppx.2	-	8	1448	c.915G>C	c.(913-915)gtG>gtC	p.V305V	USP45_uc003ppw.2_Silent_p.V43V|USP45_uc010kcq.2_Silent_p.V305V	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	305					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTTCTGTCCTCACTGCATCCA	0.408													8	45					0	0	1	0	0	G	99924037	C	G	99924037	2	3	303	1	0	0	0	0	0	0	0	1	17073	813	29	4		4	USP45	6	99924037	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	48311014	99924037	71191030	25	5224											
SESN1	27244	broad.mit.edu	37	chr6	109322623	109322623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtaatgttatccaaacgGcccaaagcagcaaaagaatc	7	10	0	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:109322623G>A	uc003psu.3	-	2	846	c.414C>T	c.(412-414)ggC>ggT	p.G138G	SESN1_uc021zdp.1_Silent_p.G13G|SESN1_uc003pst.4_Silent_p.G79G	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	79					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TATCCAAACGGCCCAAAGCAG	0.403													3	33					0	0	1	0	0	A	109322623	G	A	109322623	2	1	303	1	0	0	0	0	0	0	0	1	14124	1190	42	2		2	SESN1	6	109322623	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	9398586	109322623	61792444	26	5225											
IFNGR1	3459	broad.mit.edu	37	chr6	137519644	137519644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcttcggtatgcatgcctgGaactgttgctggagacaacg	13	9	1	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:137519644G>T	uc003qho.2	-	6	1097	c.994C>A	c.(994-996)Cca>Aca	p.P332T	IFNGR1_uc011edm.1_Missense_Mutation_p.P304T	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	332					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TGCATGCCTGGAACTGTTGCT	0.413													22	32					0	0	1	0	0	T	137519644	G	T	137519644	3	4	303	1	0	0	0	0	1	0	0	0	7549	1174	41	4	479	4	IFNGR1	6	137519644	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	28197021	137519644	33595423	27	5226											
ABCB5	340273	broad.mit.edu	37	chr7	20782555	20782555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcttctatccatgtcGcccagatgttttcatcctcc	4	15	4	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:20782555G>A	uc010kuh.3	+	24	3317	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	ABCB5_uc003suw.4_Missense_Mutation_p.R582H	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	582					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATCCATGTCGCCCAGATGTT	0.468													7	49					0	0	1	0	0	A	20782555	G	A	20782555	3	1	303	1	0	0	0	0	1	0	0	0	44	1087	38	1	3215	1	ABCB5	7	20782555	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		20782555	138356108	28	5227											
SEMA3A	10371	broad.mit.edu	37	chr7	83764225	83764225	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatgataactggagctgttgGccaagccattgaaagtgatc	11	7	0	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:83764225G>C	uc003uhz.3	-	1	470	c.155C>G	c.(154-156)gCc>gGc	p.A52G		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	52	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGAGCTGTTGGCCAAGCCATT	0.393													22	34					0	0	1	0	0	C	83764225	G	C	83764225	3	2	303	1	0	0	0	0	1	0	0	0	14024	1203	42	4	2224	4	SEMA3A	7	83764225	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	62981670	83764225	75374438	29	5228											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	28					0	0	1	0	0	T	140453136	A	T	140453136	3	4	303	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	56688911	140453136	18685527	30	5229											
ZNF786	136051	broad.mit.edu	37	chr7	148767890	148767890	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgatgagctttgagtgtttCacaaagcccttgccgcactc	9	12	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:148767890C>T	uc003wfh.2	-	3	2111	c.1974G>A	c.(1972-1974)gtG>gtA	p.V658V	ZNF786_uc011kuk.1_Silent_p.V621V|ZNF786_uc003wfi.2_Silent_p.V572V	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGAGTGTTTCACAAAGCCCT	0.572													12	88					0	0	1	0	0	T	148767890	C	T	148767890	2	4	303	1	0	0	0	0	0	0	0	1	18155	813	29	2		2	ZNF786	7	148767890	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	8314754	148767890	10370773	31	5230											
LONRF1	91694	broad.mit.edu	37	chr8	12594452	12594452	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttccatcttcatttacaatCacatcctgttctaaaagaga	3	11	4	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:12594452C>G	uc003wwd.1	-	4	1374	c.1311G>C	c.(1309-1311)gtG>gtC	p.V437V	LONRF1_uc011kxv.1_Silent_p.V37V|LONRF1_uc010lsp.1_Silent_p.V37V	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	437					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CATTTACAATCACATCCTGTT	0.318													12	26					0	0	1	0	0	G	12594452	C	G	12594452	2	3	303	1	0	0	0	0	0	0	0	1	8894	813	29	4		4	LONRF1	8	12594452	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		12594452	133769570	32	5231											
PNOC	5368	broad.mit.edu	37	chr8	28196729	28196729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatctgcggcgaatgccccGagtccggagcttgttccagg	14	13	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28196729G>A	uc010lva.2	+	2	507	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	PNOC_uc003xgp.3_Missense_Mutation_p.R100Q|PNOC_uc011lau.1_Missense_Mutation_p.R36Q	NM_006228	NP_006219	Q13519	PNOC_HUMAN	Homo sapiens prepronociceptin (PNOC), mRNA.	100					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.R100E(2)|p.R100Q(2)|p.R100G(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGAATGCCCCGAGTCCGGAGC	0.632													5	40					0	0	1	0	0	A	28196729	G	A	28196729	3	1	303	1	0	0	0	0	1	0	0	0	12162	1058	37	1	305	1	PNOC	8	28196729	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	15602277	28196729	118167293	33	5232											
INTS9	55756	broad.mit.edu	37	chr8	28635438	28635438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	catggccagcggctggtaagGagccagggcttccaggtagg	17	10	0	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28635438G>C	uc003xha.3	-	12	1602	c.1303C>G	c.(1303-1305)Cct>Gct	p.P435A	INTS9_uc011lav.2_Missense_Mutation_p.P411A|INTS9_uc011law.2_Missense_Mutation_p.P414A|INTS9_uc011lax.2_Missense_Mutation_p.P328A|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	435					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GGCTGGTAAGGAGCCAGGGCT	0.502													8	43					0	0	1	0	0	C	28635438	G	C	28635438	3	2	303	1	0	0	0	0	1	0	0	0	7785	1174	41	4	693	4	INTS9	8	28635438	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	438709	28635438	117728584	34	5233											
CHD7	55636	broad.mit.edu	37	chr8	61707670	61707670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctgaagaagatgAggacccaggtgttcaggtaa	11	10	1	4			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:61707670A>G	uc003xue.3	+	3	2714	c.2222A>G	c.(2221-2223)gAg>gGg	p.E741G	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	741					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.556_871dup(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGAAGATGAGGACCCAGGT	0.433													3	136					0	0	1	0	0	G	61707670	A	G	61707670	3	3	303	1	0	0	0	0	1	0	0	0	3330	304	11	3	2232	3	CHD7	8	61707670	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	33072232	61707670	84656352	35	5234											
GRINA	2907	broad.mit.edu	37	chr8	145066705	145066705	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctcttcatcttcgccattCtctgcatcttcatccggaac	5	15	6	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:145066705C>T	uc003zan.1	+	5	1061	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	GRINA_uc003zao.1_Missense_Mutation_p.L299F|GRINA_uc003zap.1_Missense_Mutation_p.L299F	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	299						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCGCCATTCTCTGCATCTT	0.617													13	24					0	0	1	0	0	T	145066705	C	T	145066705	3	4	303	1	0	0	0	0	1	0	0	0	6785	913	32	2	913	2	GRINA	8	145066705	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	83359035	145066705	1297317	36	5235											
ZNF250	58500	broad.mit.edu	37	chr8	146107607	146107607	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taccctctggtggctccgcaGaacagtgctatggttgaagg	13	10	1	2	rs2953878		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:146107607G>T	uc003zeq.4	-	5	1093	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.L321M|ZNF250_uc010mgg.3_Missense_Mutation_p.L321M	NM_021061	NP_066405	P15622	ZN250_HUMAN	Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGCTCCGCAGAACAGTGCTA	0.542													10	14					0	0	1	0	0	T	146107607	G	T	146107607	3	4	303	1	0	0	0	0	1	0	0	0	17792	933	33	4	710	4	ZNF250	8	146107607	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	1040902	146107607	256415	37	5236											
EXOSC3	51010	broad.mit.edu	37	chr9	37783998	37783998	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctccctccaacatcaactttGaatatatctccagatttagc	3	13	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:37783998G>C	uc004aal.2	-	1	413	c.387C>G	c.(385-387)ttC>ttG	p.F129L	EXOSC3_uc010mly.1_Missense_Mutation_p.F129L|EXOSC3_uc004aam.2_Missense_Mutation_p.F129L	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.	129					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		CATCAACTTTGAATATATCTC	0.383													15	76					0	0	1	0	0	C	37783998	G	C	37783998	3	2	303	1	0	0	0	0	1	0	0	0	5316	1281	45	4	452	4	EXOSC3	9	37783998	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		37783998	103429433	38	5237											
WDR34	89891	broad.mit.edu	37	chr9	131397416	131397416	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgctgcatgaccagggcGaagccctctgtgagctgcag	14	12	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:131397416G>A	uc004bvq.1	-	5	1060	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	Homo sapiens WD repeat domain 34 (WDR34), mRNA.	312						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TGACCAGGGCGAAGCCCTCTG	0.672											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	47					0	0	1	0	0	A	131397416	G	A	131397416	2	1	303	1	0	0	0	0	0	0	0	1	17285	1049	37	1		1	WDR34	9	131397416	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	93613418	131397416	9816015	39	5238											
ACBD5	91452	broad.mit.edu	37	chr10	27520723	27520723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcttcctctttggtcAtatcacccagtgaactccaa	6	13	4	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:27520723A>G	uc010qdp.2	-	3	520	c.329T>C	c.(328-330)aTg>aCg	p.M110T	ACBD5_uc010qdm.2_Missense_Mutation_p.M108T|ACBD5_uc010qdn.2_Missense_Mutation_p.M1T|ACBD5_uc010qdo.2_Missense_Mutation_p.M1T|ACBD5_uc001ito.3_Missense_Mutation_p.M75T|ACBD5_uc001itp.3_Missense_Mutation_p.M1T|ACBD5_uc001itq.3_Missense_Mutation_p.M1T|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_001035938	Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 1, mRNA.	108	ACB.				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CTCTTTGGTCATATCACCCAG	0.328													5	69					0	0	1	0	0	G	27520723	A	G	27520723	3	3	303	1	0	0	0	0	1	0	0	0	125	217	8	3	1288	3	ACBD5	10	27520723	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08		27520723	108014024	40	5239											
TMEM26	219623	broad.mit.edu	37	chr10	63188763	63188763	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacaaacataagaagaagttGagagagttgatctcgagtga	11	5	1	6			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:63188763G>C	uc001jlo.2	-	3	895	c.526C>G	c.(526-528)Caa>Gaa	p.Q176E	TMEM26_uc001jlq.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	176						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGAAGAAGTTGAGAGAGTTGA	0.448													12	33					0	0	1	0	0	C	63188763	G	C	63188763	3	2	303	1	0	0	0	0	1	0	0	0	16148	1299	45	4	592	4	TMEM26	10	63188763	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	35668040	63188763	72345984	41	5240											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349703	65349703	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggagcacctggtattgagggGacaggcctggagcagggccc	18	10	0	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:65349703G>C	uc001oeo.4	+	8	1825	c.1560G>C	c.(1558-1560)ggG>ggC	p.G520G		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	520										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTATTGAGGGGACAGGCCTGG	0.637													4	14					0	0	1	0	0	C	65349703	G	C	65349703	2	2	303	1	0	0	0	0	0	0	0	1	4976	1161	41	4		4	EHBP1L1	11	65349703	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		65349703	69656813	42	5241											
RBM14	10432	broad.mit.edu	37	chr11	66407597	66407597	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataacacagagtttcaaggtGaaccaccctctttgggtaga	9	9	2	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:66407597G>A	uc001oiv.3	+	1	563	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Intron|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Intron	NM_001198843	NP_001185772	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 2, mRNA.	145	RRM 2.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GTTTCAAGGTGAACCACCCTC	0.488													10	67					0	0	1	0	0	A	66407597	G	A	66407597	3	1	303	1	0	0	0	0	1	0	0	0	13115	1305	45	2		2	RBM14	11	66407597	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	1057894	66407597	68598919	43	5242											
ANO1	55107	broad.mit.edu	37	chr11	70007786	70007786	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcttcaaggctttcctgctGaagtttgtgaattcctacac	7	10	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:70007786G>A	uc001opj.3	+	17	2144	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.L555L|ANO1_uc010rqk.2_Silent_p.L322L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	613					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CTTTCCTGCTGAAGTTTGTGA	0.527													20	103					0	0	1	0	0	A	70007786	G	A	70007786	2	1	303	1	0	0	0	0	0	0	0	1	695	1277	45	2		2	ANO1	11	70007786	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	3600189	70007786	64998730	44	5243											
GRIN2B	2904	broad.mit.edu	37	chr12	13769559	13769559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggggccacacatagtacttCatctgcagggacttgtcttt	10	11	3	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:13769559C>T	uc001rbt.2	-	4	1337	c.1158G>A	c.(1156-1158)atG>atA	p.M386I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	386					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATAGTACTTCATCTGCAGGG	0.502													11	67					0	0	1	0	0	T	13769559	C	T	13769559	3	4	303	1	0	0	0	0	1	0	0	0	6780	826	29	2	3332	2	GRIN2B	12	13769559	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		13769559	120082336	45	5244											
FAIM2	23017	broad.mit.edu	37	chr12	50264321	50264321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaaaagctgcaggaagAaggtgaagatatagatgatg	13	4	0	5			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:50264321A>G	uc001rvj.2	-	11	1102	c.917T>C	c.(916-918)tTc>tCc	p.F306S	FAIM2_uc001rvi.2_Missense_Mutation_p.F260S	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	306					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CTGCAGGAAGAAGGTGAAGAT	0.552													30	49					0	0	1	0	0	G	50264321	A	G	50264321	3	3	303	1	0	0	0	0	1	0	0	0	5376	246	9	3	37	3	FAIM2	12	50264321	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	36494762	50264321	83587574	46	5245											
PIP4K2C	79837	broad.mit.edu	37	chr12	57985101	57985101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcggtcccaccagccaCggtatcggcggcgacagcag	12	17	0	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:57985101C>T	uc001sou.3	+	0	160	c.29C>T	c.(28-30)aCg>aTg	p.T10M	PIP4K2C_uc001sot.3_Missense_Mutation_p.T10M|PIP4K2C_uc010srs.2_Missense_Mutation_p.T10M|PIP4K2C_uc010srt.2_Missense_Mutation_p.T10M	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	10						cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCACCAGCCACGGTATCGGCG	0.672													21	67					0	0	1	0	0	T	57985101	C	T	57985101	3	4	303	1	0	0	0	0	1	0	0	0	11938	536	19	1	31	1	PIP4K2C	12	57985101	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	7720780	57985101	75866794	47	5246											
CAND1	55832	broad.mit.edu	37	chr12	67699222	67699222	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaaagggctatttccTgtatgggacaaattatttgc	10	6	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:67699222T>A	uc001stn.2	+	9	2211	c.1774T>A	c.(1774-1776)Tgt>Agt	p.C592S	CAND1_uc001sto.2_Intron	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	592					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGCTATTTCCTGTATGGGACA	0.368													7	116					0	0	1	0	0	A	67699222	T	A	67699222	3	1	303	1	0	0	0	0	1	0	0	0	2615	1580	55	5	1812	5	CAND1	12	67699222	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	9714121	67699222	66152673	48	5247											
VEZT	55591	broad.mit.edu	37	chr12	95660246	95660246	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttgtgtatctggtcataaGagctttgagattatggagga	12	3	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:95660246G>C	uc001tdz.2	+	4	653	c.548G>C	c.(547-549)aGa>aCa	p.R183T	VEZT_uc001tds.3_Missense_Mutation_p.R135T|VEZT_uc001tdv.3_Missense_Mutation_p.R152T|VEZT_uc009zsy.1_Missense_Mutation_p.R25T|VEZT_uc001tdr.2_Missense_Mutation_p.R25T|VEZT_uc001tdt.2_Missense_Mutation_p.R135T|VEZT_uc009zsz.1_Missense_Mutation_p.R183T|VEZT_uc001tdw.1_Missense_Mutation_p.R135T|VEZT_uc009zta.1_Missense_Mutation_p.R135T	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	183						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTGGTCATAAGAGCTTTGAGA	0.428													38	224					0	0	1	0	0	C	95660246	G	C	95660246	3	2	303	1	0	0	0	0	1	0	0	0	17153	942	33	4	566	4	VEZT	12	95660246	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	27961024	95660246	38191649	49	5248											
SACS	26278	broad.mit.edu	37	chr13	23909544	23909544	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctccatacttgaaaagcctGatctattacaaattagccac	4	11	2	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:23909544G>A	uc001uon.2	-	9	9060	c.8471C>T	c.(8470-8472)tCa>tTa	p.S2824L	SACS_uc001uoo.2_Missense_Mutation_p.S2677L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2824					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAAAGCCTGATCTATTACA	0.393													12	53					0	0	1	0	0	A	23909544	G	A	23909544	3	1	303	1	0	0	0	0	1	0	0	0	13804	1294	45	2	5272	2	SACS	13	23909544	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		23909544	91260334	50	5249											
UGGT2	55757	broad.mit.edu	37	chr13	96555252	96555252	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctctagaaatagctgtgttCtcttcatttatttttgatgt	6	7	3	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:96555252C>G	uc001vmt.3	-	20	2528	c.2358G>C	c.(2356-2358)gaG>gaC	p.E786D		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	786					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity	p.E786*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGCTGTGTTCTCTTCATTTA	0.333													7	40					0	0	1	0	0	G	96555252	C	G	96555252	3	3	303	1	0	0	0	0	1	0	0	0	16939	912	32	4	2268	4	UGGT2	13	96555252	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	72645708	96555252	18614626	51	5250											
FAM179B	23116	broad.mit.edu	37	chr14	45433228	45433228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctttagaagcttttgCcgtattggcatcatcaatgg	10	8	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:45433228C>T	uc001wvw.3	+	0	1813	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	FAM179B_uc001wvv.3_Missense_Mutation_p.A535V|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.A535V|FAM179B_uc001wvu.3_Missense_Mutation_p.A535V	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	535							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGCTTTTGCCGTATTGGCA	0.453													4	145					0	0	1	0	0	T	45433228	C	T	45433228	3	4	303	1	0	0	0	0	1	0	0	0	5506	739	26	2	1606	2	FAM179B	14	45433228	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		45433228	61916312	52	5251											
FCF1	51077	broad.mit.edu	37	chr14	75190043	75190043	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcagaagtatcgagtggctCtaaggtaggaaggaggtaaa	16	4	1	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:75190043C>G	uc001xqh.3	+	4	412	c.361C>G	c.(361-363)Cta>Gta	p.L121V	FCF1_uc001xqf.1_Missense_Mutation_p.L106V|FCF1_uc001xqi.3_Non-coding_Transcript	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN	Homo sapiens FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) (FCF1), mRNA.	121	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		TCGAGTGGCTCTAAGGTAGGA	0.378													9	32					0	0	1	0	0	G	75190043	C	G	75190043	3	3	303	1	0	0	0	0	1	0	0	0	5777	912	32	4	379	4	FCF1	14	75190043	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	29756815	75190043	32159497	53	5252											
SERPINA5	5104	broad.mit.edu	37	chr14	95058528	95058528	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacaggccctttctgatgttCattgtggataacaacatcct	7	10	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:95058528C>T	uc001ydm.2	+	5	1383	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SERPINA3_uc001ydo.4_Intron	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	391					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTCTGATGTTCATTGTGGATA	0.562													57	360					0	0	1	0	0	T	95058528	C	T	95058528	2	4	303	1	0	0	0	0	0	0	0	1	14092	825	29	2		2	SERPINA5	14	95058528	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	19868485	95058528	12291012	54	5253											
CASC4	113201	broad.mit.edu	37	chr15	44630079	44630079	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agataagaatgaagaaccctCaagcaatcatattccacatg	6	9	2	4			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:44630079C>G	uc001ztp.3	+	4	1014	c.695C>G	c.(694-696)tCa>tGa	p.S232*	CASC4_uc001ztq.3_Nonsense_Mutation_p.S232*|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Nonsense_Mutation_p.S232*	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	232						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GAAGAACCCTCAAGCAATCAT	0.299													3	58					0	0	1	0	0	G	44630079	C	G	44630079	4	3	303	1	0	0	0	0	0	1	0	0	2662	838	29	4	713	4	CASC4	15	44630079	Nonsense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		44630079	57901313	55	5254											
DMXL2	23312	broad.mit.edu	37	chr15	51791873	51791873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaccgactcccactgtaAgaatgtgggagccatcttct	9	13	2	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:51791873A>G	uc010ufy.2	-	17	3773	c.3548T>C	c.(3547-3549)cTt>cCt	p.L1183P	DMXL2_uc002abf.3_Missense_Mutation_p.L1183P|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1183						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCCACTGTAAGAATGTGGGA	0.408													3	40					0	0	1	0	0	G	51791873	A	G	51791873	3	3	303	1	0	0	0	0	1	0	0	0	4595	72	3	3	5669	3	DMXL2	15	51791873	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	7161794	51791873	50739519	56	5255											
DYX1C1	161582	broad.mit.edu	37	chr15	55727220	55727220	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggctaaattatatgcattGatagctgccaaatagttttc	7	6	0	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:55727220G>C	uc002adc.3	-	7	1298	c.930C>G	c.(928-930)atC>atG	p.I310M	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Missense_Mutation_p.I310M|DYX1C1_uc002add.3_Missense_Mutation_p.I310M	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	310					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TATATGCATTGATAGCTGCCA	0.318													13	75					0	0	1	0	0	C	55727220	G	C	55727220	3	2	303	1	0	0	0	0	1	0	0	0	4862	1280	45	4	447	4	DYX1C1	15	55727220	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	3935347	55727220	46804172	57	5256											
PRC1	9055	broad.mit.edu	37	chr15	91523559	91523559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctccactcgaattgcctCaatcactttcttcatgtttt	4	13	4	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:91523559C>T	uc002bqm.3	-	6	1040	c.883G>A	c.(883-885)Gag>Aag	p.E295K	PRC1_uc002bqn.3_Missense_Mutation_p.E295K|PRC1_uc002bqo.3_Missense_Mutation_p.E295K|PRC1_uc010uqs.2_Missense_Mutation_p.E254K	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	295	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAATTGCCTCAATCACTTTC	0.443													18	90					0	0	1	0	0	T	91523559	C	T	91523559	3	4	303	1	0	0	0	0	1	0	0	0	12446	835	29	2	1015	2	PRC1	15	91523559	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	35796339	91523559	11007833	58	5257											
GPR114	221188	broad.mit.edu	37	chr16	57601840	57601840	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctcctgaacatcgccttCctgctgagccccgcattcgc	8	18	0	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:57601840C>G	uc002elx.4	+	8	979	c.894C>G	c.(892-894)ttC>ttG	p.F298L	GPR114_uc010vhr.2_Missense_Mutation_p.F298L|GPR114_uc002ely.3_Missense_Mutation_p.F298L	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	298					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACATCGCCTTCCTGCTGAGCC	0.612													6	25					0	0	1	0	0	G	57601840	C	G	57601840	3	3	303	1	0	0	0	0	1	0	0	0	6631	854	30	4	924	4	GPR114	16	57601840	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		57601840	32752913	59	5258											
ZFPM1	161882	broad.mit.edu	37	chr16	88600417	88600417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaccccagccgcacgcTgtgcgaggcctgcaacatcc	12	17	0	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:88600417T>A	uc002fkv.3	+	9	2084	c.2051T>A	c.(2050-2052)cTg>cAg	p.L684Q		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA.	684					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGCCGCACGCTGTGCGAGGCC	0.756													3	11					0	0	1	0	0	A	88600417	T	A	88600417	3	1	303	1	0	0	0	0	1	0	0	0	17654	1580	55	5	2089	5	ZFPM1	16	88600417	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	30998577	88600417	1754336	60	5259											
DNAH9	1770	broad.mit.edu	37	chr17	11515089	11515089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagccatgtacagagatgTtgttgcaggtgaggaccagc	13	8	0	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:11515089T>C	uc002gne.3	+	3	964	c.896T>C	c.(895-897)gTt>gCt	p.V299A	DNAH9_uc002gnd.1_Missense_Mutation_p.V299A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	299	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACAGAGATGTTGTTGCAGGT	0.453													4	83					0	0	1	0	0	C	11515089	T	C	11515089	3	2	303	1	0	0	0	0	1	0	0	0	4608	1725	60	3	910	3	DNAH9	17	11515089	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		11515089	69680121	61	5260											
KAT2A	2648	broad.mit.edu	37	chr17	40271403	40271403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagacatgagtggtttcGtagcgggggaggctatcaca	14	8	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:40271403G>A	uc002hyx.2	-	5	993	c.933C>T	c.(931-933)taC>taT	p.Y311Y		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	311					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	p.R310R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAGTGGTTTCGTAGCGGGGGA	0.582													44	69					0	0	1	0	0	A	40271403	G	A	40271403	2	1	303	1	0	0	0	0	0	0	0	1	7981	1140	40	1		1	KAT2A	17	40271403	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	28756314	40271403	40923807	62	5261											
EVPL	2125	broad.mit.edu	37	chr17	74005905	74005905	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accttgggctccaccgagctGatagcccgctccaggtcttc	10	16	1	1			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:74005905G>C	uc010wss.1	-	21	3675	c.3447C>G	c.(3445-3447)atC>atG	p.I1149M	EVPL_uc002jqi.2_Missense_Mutation_p.I1127M|EVPL_uc010wst.1_Missense_Mutation_p.I597M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1127	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACCGAGCTGATAGCCCGCT	0.642													18	39					0	0	1	0	0	C	74005905	G	C	74005905	3	2	303	1	0	0	0	0	1	0	0	0	5292	1280	45	4	2724	4	EVPL	17	74005905	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	33734502	74005905	7189305	63	5262											
ANAPC11	51529	broad.mit.edu	37	chr17	79857212	79857212	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccatccacaggtgcccatCaacacagcttccccaacgcc	6	20	1	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:79857212C>T	uc002kby.1	+	2	356	c.204C>T	c.(202-204)atC>atT	p.I68I	ANAPC11_uc002kbv.1_Intron|ANAPC11_uc002kbw.1_Intron|ANAPC11_uc002kbx.1_Intron|ANAPC11_uc002kbz.1_Intron|ANAPC11_uc002kca.1_Intron|ANAPC11_uc002kcb.1_Intron|ANAPC11_uc002kcc.1_Intron|ANAPC11_uc010dih.1_Intron|NPB_uc002kcd.3_5'Flank	NM_001002244	NP_001002244	Q9NYG5	APC11_HUMAN	Homo sapiens anaphase promoting complex subunit 11 (ANAPC11), transcript variant 1, mRNA.	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGGTGCCCATCAACACAGCTT	0.607													9	30					0	0	1	0	0	T	79857212	C	T	79857212	2	4	303	1	0	0	0	0	0	0	0	1	600	816	29	2		2	ANAPC11	17	79857212	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	5851307	79857212	1337998	64	5263											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10221422	10221422	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacgggtcgggggtagtgatGaagaggcctctgggatccct	17	9	1	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:10221422G>A	uc002mna.3	+	10	1253	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PPAN-P2RY11_uc010xla.2_Missense_Mutation_p.E361K|PPAN-P2RY11_uc002mnc.3_5'Flank|PPAN-P2RY11_uc002mmz.2_Missense_Mutation_p.E361K	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	Homo sapiens PPAN-P2RY11 readthrough (PPAN-P2RY11), transcript variant 1, mRNA.	361					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGGTAGTGATGAAGAGGCCTC	0.602													7	91					0	0	1	0	0	A	10221422	G	A	10221422	3	1	303	1	0	0	0	0	1	0	0	0	12289	1291	45	2	1123	2	PPAN-P2RY11	19	10221422	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		10221422	48907561	65	5264											
ZNF528	84436	broad.mit.edu	37	chr19	52919958	52919958	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taaggtcttcagtcacaattCtgaccttgcacagcatcaga	7	11	5	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:52919958C>G	uc002pzh.3	+	6	2279	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	ZNF528_uc002pzi.3_Missense_Mutation_p.S385C	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGTCACAATTCTGACCTTGCA	0.418													8	47					0	0	1	0	0	G	52919958	C	G	52919958	3	3	303	1	0	0	0	0	1	0	0	0	17966	913	32	4	1867	4	ZNF528	19	52919958	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	42698536	52919958	6209025	66	5265											
NFATC2	4773	broad.mit.edu	37	chr20	50071158	50071158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggatcatttgctggccGccatagaccaggcagctgtc	13	11	1	2	rs146686251	by1000genomes	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:50071158G>A	uc002xwd.3	-	5	1996	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	NFATC2_uc002xwc.3_Silent_p.G592G|NFATC2_uc010zyv.2_Silent_p.G373G|NFATC2_uc010zyw.2_Silent_p.G373G|NFATC2_uc002xwe.3_Silent_p.G572G|NFATC2_uc010zyx.2_Silent_p.G572G|NFATC2_uc010zyy.2_Silent_p.G373G|NFATC2_uc010zyz.2_Silent_p.G373G|MIR3194_uc021weu.1_5'Flank	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	592					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.G592G(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTGCTGGCCGCCATAGACCA	0.502													5	171					0	0	1	0	0	A	50071158	G	A	50071158	2	1	303	1	0	0	0	0	0	0	0	1	10362	1074	38	1		1	NFATC2	20	50071158	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		50071158	12954362	67	5266											
C20orf197	284756	broad.mit.edu	37	chr20	58645884	58645884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtattaaaggctctgcaaaGttctgcaccaaataaaccct	7	10	2	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:58645884G>T	uc002ybj.1	+	3	608	c.302G>T	c.(301-303)aGt>aTt	p.S101I		NM_173644	NP_775915	Q8N268	CT197_HUMAN	Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA.	101										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			gctctgcaaagttctgcacca	0.478													3	11					0	0	1	0	0	T	58645884	G	T	58645884	3	4	303	1	0	0	0	0	1	0	0	0	2102	1029	36	4	308	4	C20orf197	20	58645884	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	8574726	58645884	4379636	68	5267											
GRIK1	2897	broad.mit.edu	37	chr21	30961208	30961208	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccactcccctttgtcattcTgggccccatatttgccatcg	6	16	2	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:30961208T>G	uc011acs.2	-	10	1984	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	GRIK1_uc002ynn.3_Missense_Mutation_p.Q492P|GRIK1_uc011act.2_Intron|GRIK1_uc002yno.1_Missense_Mutation_p.Q507P|GRIK1_uc010glq.1_Missense_Mutation_p.Q350P	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	507					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTGTCATTCTGGGCCCCATA	0.368													15	78					0	0	1	0	0	G	30961208	T	G	30961208	3	3	303	1	0	0	0	0	1	0	0	0	6773	1580	55	5	1424	5	GRIK1	21	30961208	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		30961208	17168687	69	5268											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999968	45999968	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagggggaggaggtgCagcaagtcggctggcagcta	20	8	0	0			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:45999968C>G	uc002zfl.1	-	0	514	c.488G>C	c.(487-489)tGc>tCc	p.C163S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	163	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGAGGAGGTGCAGCAAGTCGG	0.602													26	163					0	0	1	0	0	G	45999968	C	G	45999968	3	3	303	1	0	0	0	0	1	0	0	0	8512	710	25	4	331	4	KRTAP10-5	21	45999968	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	15038760	45999968	2129927	70	5269											
LZTR1	8216	broad.mit.edu	37	chr22	21340177	21340177	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttcgatgtgaaagactgctCctggtgcaggtgggtggccc	16	9	0	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:21340177C>G	uc002zto.3	+	2	414	c.311C>G	c.(310-312)tCc>tGc	p.S104C	LZTR1_uc002ztn.3_Missense_Mutation_p.S63C|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	104					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAAGACTGCTCCTGGTGCAGG	0.582													6	32					0	0	1	0	0	G	21340177	C	G	21340177	3	3	303	1	0	0	0	0	1	0	0	0	9137	855	30	4	321	4	LZTR1	22	21340177	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		21340177	29964389	71	5270											
PLCXD1	55344	broad.mit.edu	37	chrX	209756	209756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaggtcatcgtctccTatgaagacgagagctccttg	10	12	2	3			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:209756T>C	uc004cpc.3	+	5	916	c.604T>C	c.(604-606)Tat>Cat	p.Y202H	PLCXD1_uc011mgx.2_Non-coding_Transcript	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.	202	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCGTCTCCTATGAAGACGA	0.632													3	49					0	0	1	0	0	C	209756	T	C	209756	3	2	303	1	0	0	0	0	1	0	0	0	12041	1522	53	3	622	3	PLCXD1	23	209756	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		209756	155060804	72	5271											
DOCK11	139818	broad.mit.edu	37	chrX	117819739	117819739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtacatcaagtgaccgagGttatggttccccaagatacg	11	9	1	2			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:117819739G>A	uc004eqp.2	+	52	6254	c.6191G>A	c.(6190-6192)gGt>gAt	p.G2064D	DOCK11_uc004eqq.2_Missense_Mutation_p.G1843D	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	2064					blood coagulation	cytosol	GTP binding	p.R2063Q(1)|p.R2063R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGTGACCGAGGTTATGGTTCC	0.403													71	89					0	0	1	0	0	A	117819739	G	A	117819739	3	1	303	1	0	0	0	0	1	0	0	0	4686	1261	44	2	6401	2	DOCK11	23	117819739	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	117609983	117819739	37450821	73	5272											
HAAO	23498	broad.mit.edu	37	chr2	43010952	43010952	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccgaatgaccacatcccggTgtttcccttgctccaggact	9	15	0	1			TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr2:43010952T>A	uc002rst.4	-	2	290	c.215A>T	c.(214-216)cAc>cTc	p.H72L	HAAO_uc010ynw.1_Missense_Mutation_p.H72L	NM_012205	NP_036337	P46952	3HAO_HUMAN	Homo sapiens 3-hydroxyanthranilate 3,4-dioxygenase (HAAO), mRNA.	72	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CACATCCCGGTGTTTCCCTTG	0.602													7	12					0	0	1	0	0	A	43010952	T	A	43010952	3	1	304	1	0	0	0	0	1	0	0	0	6937	1696	59	5	677	5	HAAO	2	43010952	Missense_Mutation	SNP	T	TCGA-ET-A2MZ-01A-12D-A19J-08		43010952	200188421	1	5273											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	60					0	0	1	0	0	T	140453136	A	T	140453136	3	4	304	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2MZ-01A-12D-A19J-08		140453136	18685527	2	5274											
GPR124	25960	broad.mit.edu	37	chr8	37693173	37693173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagactgcaccctgcaactGctcgtcttccgaaatggccg	9	16	1	1			TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr8:37693173G>A	uc003xkj.3	+	12	2321	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	645					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCTGCAACTGCTCGTCTTCC	0.682													30	81					0	0	1	0	0	A	37693173	G	A	37693173	2	1	304	1	0	0	0	0	0	0	0	1	6638	1306	46	2		2	GPR124	8	37693173	Silent	SNP	G	TCGA-ET-A2MZ-01A-12D-A19J-08		37693173	108670849	3	5275											
ZNF254	9534	broad.mit.edu	37	chr19	24288767	24288767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacatttagggatgtggCcatagaattctctctggagg	13	6	2	2			TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr19:24288767C>T	uc002nru.3	+	1	190	c.56C>T	c.(55-57)gCc>gTc	p.A19V	ZNF254_uc010xrk.2_Intron|ZNF254_uc002nrt.1_Non-coding_Transcript	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	19	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGGGATGTGGCCATAGAATTC	0.408													64	121					0	0	1	0	0	T	24288767	C	T	24288767	3	4	304	1	0	0	0	0	1	0	0	0	17795	739	26	2	62	2	ZNF254	19	24288767	Missense_Mutation	SNP	C	TCGA-ET-A2MZ-01A-12D-A19J-08		24288767	34840216	4	5276											
CACHD1	57685	broad.mit.edu	37	chr1	65119491	65119491	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccatatttattgtcagagCccccacttcatactgacatc	6	13	2	2			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:65119491C>G	uc001dbo.1	+	10	1543	c.1438C>G	c.(1438-1440)Ccc>Gcc	p.P480A	CACHD1_uc001dbp.1_Missense_Mutation_p.P235A|CACHD1_uc001dbq.1_Missense_Mutation_p.P235A	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	531	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATTGTCAGAGCCCCCACTTCA	0.353													40	101					0	0	1	0	0	G	65119491	C	G	65119491	3	3	305	1	0	0	0	0	1	0	0	0	2537	739	26	4	1480	4	CACHD1	1	65119491	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08		65119491	184131130	1	5277											
SLAMF8	56833	broad.mit.edu	37	chr1	159799720	159799720	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggggctcggtgctgctGgtggcagcgcgtccccctgg	19	13	0	0			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:159799720G>T	uc001fue.4	+	1	315	c.105G>T	c.(103-105)ctG>ctT	p.L35L		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	35						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CGGTGCTGCTGGTGGCAGCGC	0.612													42	95					0	0	1	0	0	T	159799720	G	T	159799720	2	4	305	1	0	0	0	0	0	0	0	1	14370	1335	47	4		4	SLAMF8	1	159799720	Silent	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08	94680229	159799720	89450901	2	5278											
FAM194A	131831	broad.mit.edu	37	chr3	150398571	150398571	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgttacctttgcagggcTttttcttttgccttgagtct	8	9	2	1			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr3:150398571T>C	uc003eyg.3	-	7	1086	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	FAM194A_uc003eyh.3_Silent_p.K197K	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	343										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTGCAGGGCTTTTTCTTTTG	0.413													3	87					0	0	1	0	0	C	150398571	T	C	150398571	2	2	305	1	0	0	0	0	0	0	0	1	5526	1606	56	3		3	FAM194A	3	150398571	Silent	SNP	T	TCGA-ET-A2N0-01A-11D-A18F-08		150398571	47623859	3	5279											
TACR3	6870	broad.mit.edu	37	chr4	104640780	104640780	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggttcacggcgtctgcaCccacgcctccacccccgtct	8	20	4	0			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr4:104640780C>A	uc003hxe.1	-	0	194	c.53G>T	c.(52-54)gGt>gTt	p.G18V		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	18						integral to plasma membrane	tachykinin receptor activity	p.G18S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCGTCTGCACCCACGCCTCC	0.687													13	21					0	0	1	0	0	A	104640780	C	A	104640780	3	1	305	1	0	0	0	0	1	0	0	0	15504	507	18	4	1364	4	TACR3	4	104640780	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08		104640780	86513496	4	5280											
TIFAB	497189	broad.mit.edu	37	chr5	134785451	134785451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctccaggtagggctccAgggacaggtgacggcgggag	17	10	1	1			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr5:134785451A>G	uc003law.4	-	1	380	c.179T>C	c.(178-180)cTg>cCg	p.L60P	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.L60P	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	60	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAGGGCTCCAGGGACAGGTG	0.667													3	70					0	0	1	0	0	G	134785451	A	G	134785451	3	3	305	1	0	0	0	0	1	0	0	0	15892	188	7	3	310	3	TIFAB	5	134785451	Missense_Mutation	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		134785451	46129809	5	5281											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	36					0	0	1	0	0	T	140453136	A	T	140453136	3	4	305	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		140453136	18685527	6	5282											
OR51G1	79324	broad.mit.edu	37	chr11	4945145	4945145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagccccatcttgacaataCatgcaggtgtcaggacggtg	11	10	2	1			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr11:4945145C>T	uc010qyr.2	-	0	425	c.425G>A	c.(424-426)tGt>tAt	p.C142Y		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGACAATACATGCAGGTGT	0.522													15	30					0	0	1	0	0	T	4945145	C	T	4945145	3	4	305	1	0	0	0	0	1	0	0	0	11098	478	17	2	542	2	OR51G1	11	4945145	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08		4945145	130061371	7	5283											
IGSF9B	22997	broad.mit.edu	37	chr11	133790942	133790942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtcctcgttctcctcgTccgactggcggaactcgggg	15	13	1	0			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr11:133790942T>C	uc001qgx.4	-	17	2909	c.2678A>G	c.(2677-2679)gAc>gGc	p.D893G		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	893						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTTCTCCTCGTCCGACTGGCG	0.647													25	50					0	0	1	0	0	C	133790942	T	C	133790942	3	2	305	1	0	0	0	0	1	0	0	0	7606	1667	58	3	1379	3	IGSF9B	11	133790942	Missense_Mutation	SNP	T	TCGA-ET-A2N0-01A-11D-A18F-08	128845797	133790942	1215574	8	5284											
PIK3R5	23533	broad.mit.edu	37	chr17	8792478	8792479	+	Frame_Shift_Ins	INS	-	-	T													agctgtcctggctccagctgINStaggtgtagcacctggcgac							TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr17:8792478_8792479insT	uc002glt.3	-	8	939_940	c.872_873insA	c.(871-873)tacfs	p.Y291fs	PIK3R5_uc010vuz.2_Frame_Shift_Ins_p.Y291fs|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	291				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCTCCAGCTGTAGGTGTAGCA	0.594													11	17	---	---	---	---						T	8792479	-	T	8792478	7	5	305	1	0	1	1	0	0	0	0	0	11922	1372	48	0	1813	0	PIK3R5	17	8792478	Frame_Shift_Ins	INS	-	TCGA-ET-A2N0-01A-11D-A18F-08		8792478	72402732	9	5285											
GOSR2	9570	broad.mit.edu	37	chr17	45016025	45016025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtccaacacagtgatgCggctcatcgagaagcgggct	13	11	1	2			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr17:45016025C>T	uc010wkh.1	+	5	611	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	GOSR2_uc002ikz.3_Missense_Mutation_p.R180W|GOSR2_uc002ila.3_Missense_Mutation_p.R180W	NM_004287	NP_004278	O14653	GOSR2_HUMAN	Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant A, mRNA.	180					ER to Golgi vesicle-mediated transport|cellular membrane fusion|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CACAGTGATGCGGCTCATCGA	0.493													6	203					0	0	1	0	0	T	45016025	C	T	45016025	3	4	305	1	0	0	0	0	1	0	0	0	6578	759	27	1	671	1	GOSR2	17	45016025	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08	36223547	45016025	36179185	10	5286											
NDUFV2	4729	broad.mit.edu	37	chr18	9126840	9126840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttccaggaggatttgacAgctaaggatattgaagaaat	10	4	0	3			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr18:9126840A>G	uc002knu.3	+	6	705	c.591A>G	c.(589-591)acA>acG	p.T197T		NM_021074	NP_066552	P19404	NDUV2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	197					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	AGGATTTGACAGCTAAGGATA	0.333													7	145					0	0	1	0	0	G	9126840	A	G	9126840	2	3	305	1	0	0	0	0	0	0	0	1	10300	175	7	3		3	NDUFV2	18	9126840	Silent	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		9126840	68950408	11	5287											
CHGB	1114	broad.mit.edu	37	chr20	5904106	5904106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacaccagagaagagaaaaGgttcttgggtgaaggacacc	13	7	1	4			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr20:5904106G>T	uc002wmg.3	+	3	1622	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	CHGB_uc010zqz.2_Missense_Mutation_p.R122M	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	439						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGAGAAAAGGTTCTTGGGT	0.547													31	47					0	0	1	0	0	T	5904106	G	T	5904106	3	4	305	1	0	0	0	0	1	0	0	0	3339	1000	35	4	1330	4	CHGB	20	5904106	Missense_Mutation	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08		5904106	57121414	12	5288											
F8	2157	broad.mit.edu	37	chrX	154250785	154250785	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcactaaagcagaatcGcaaaaggcacagaaagaagc	12	8	0	3			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chrX:154250785G>A	uc004fmt.3	-	0	214	c.43C>T	c.(43-45)Cga>Tga	p.R15*	F8_uc011mzx.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	15					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGCAGAATCGCAAAAGGCAC	0.443													4	112					0	0	1	0	0	A	154250785	G	A	154250785	4	1	305	1	0	0	0	0	0	1	0	0	5350	1095	38	1	7144	1	F8	23	154250785	Nonsense_Mutation	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08		154250785	1019775	13	5289											
SLCO6A1	133482	broad.mit.edu	37	chr5	101726729	101726729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacacccaaggccagagaaCgcagtttgtcaggtacaacc	9	12	1	1			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr5:101726729C>T	uc003knn.3	-	10	2007	c.1835G>A	c.(1834-1836)cGt>cAt	p.R612H	SLCO6A1_uc003kno.3_Missense_Mutation_p.R359H|SLCO6A1_uc003knp.3_Missense_Mutation_p.R612H|SLCO6A1_uc003knq.3_Missense_Mutation_p.R550H	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	612						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCCAGAGAACGCAGTTTGTC	0.328													36	66					0	0	1	0	0	T	101726729	C	T	101726729	3	4	306	1	0	0	0	0	1	0	0	0	14732	536	19	1	336	1	SLCO6A1	5	101726729	Missense_Mutation	SNP	C	TCGA-ET-A2N1-01A-11D-A18F-08		101726729	79188531	1	5290											
ZNF33B	7582	broad.mit.edu	37	chr10	43088158	43088158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttacattcatagggcTtttcccctgtatgtgatctc	8	9	2	1			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr10:43088158T>C	uc001jaf.1	-	4	2355	c.2240A>G	c.(2239-2241)aAg>aGg	p.K747R	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.K635R|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	747						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCATAGGGCTTTTCCCCTGT	0.373													3	100					0	0	1	0	0	C	43088158	T	C	43088158	3	2	306	1	0	0	0	0	1	0	0	0	17852	1609	56	3	100	3	ZNF33B	10	43088158	Missense_Mutation	SNP	T	TCGA-ET-A2N1-01A-11D-A18F-08		43088158	92446589	2	5291											
TBC1D12	23232	broad.mit.edu	37	chr10	96163149	96163149	+	Frame_Shift_Del	DEL	C	C	-													cgagaggactaatgggggtgCggagccgcgcctgggctttt							TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr10:96163149delC	uc001kjr.2	+	0	964	c.779delC	c.(778-780)gcgfs	p.A260fs		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	260						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AATGGGGGTGCGGAGCCGCGC	0.701													2	4	---	---	---	---						-	96163149	C	-	96163149	7	5	306	1	0	1	0	1	0	0	0	0	15598	768	27	0	781	0	TBC1D12	10	96163149	Frame_Shift_Del	DEL	C	TCGA-ET-A2N1-01A-11D-A18F-08	53074991	96163149	39371598	3	5292											
DDX23	9416	broad.mit.edu	37	chr12	49230719	49230719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttcgcctcttctccattAggtctccatagaaacgtgac	9	12	3	2			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr12:49230719A>G	uc001rsm.3	-	8	1059	c.968T>C	c.(967-969)cTa>cCa	p.L323P		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	323						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTCTCCATTAGGTCTCCATA	0.532													4	404					0	0	1	0	0	G	49230719	A	G	49230719	3	3	306	1	0	0	0	0	1	0	0	0	4350	420	15	3	1530	3	DDX23	12	49230719	Missense_Mutation	SNP	A	TCGA-ET-A2N1-01A-11D-A18F-08		49230719	84621176	4	5293											
YEATS4	8089	broad.mit.edu	37	chr12	69756619	69756619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgttgctcggtattttGgaaagaaaagagaagaagat	12	2	0	4			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr12:69756619G>A	uc001sux.3	+	1	324	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_006530	NP_006521	O95619	YETS4_HUMAN	Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.	35	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TCGGTATTTTGGAAAGAAAAG	0.323													8	59					0	0	1	0	0	A	69756619	G	A	69756619	3	1	306	1	0	0	0	0	1	0	0	0	17470	1349	47	2	109	2	YEATS4	12	69756619	Missense_Mutation	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08	20525900	69756619	64095276	5	5294											
MRPS31	10240	broad.mit.edu	37	chr13	41331142	41331142	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcatatctgatattatgtTactgaaactgaaataataaa	4	4	2	3			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr13:41331142T>A	uc001uxm.4	-	3	682	c.607A>T	c.(607-609)Aac>Tac	p.N203Y		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	203						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GATATTATGTTACTGAAACTG	0.343													18	19					0	0	1	0	0	A	41331142	T	A	41331142	3	1	306	1	0	0	0	0	1	0	0	0	9841	1754	61	5	596	5	MRPS31	13	41331142	Missense_Mutation	SNP	T	TCGA-ET-A2N1-01A-11D-A18F-08		41331142	73838736	6	5295											
DHRS4	10901	broad.mit.edu	37	chr14	24459498	24459498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccacgctgcagggggAggggctgagcgtgacgggca	22	9	0	2			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr14:24459498A>G	uc001wli.4	+	1	366	c.236A>G	c.(235-237)gAg>gGg	p.E79G	DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Missense_Mutation_p.E77G|DHRS4_uc001wld.4_Intron|DHRS4_uc001wle.4_Intron|DHRS4_uc001wlc.4_Intron|DHRS4L2_uc021rra.1_3'UTR|DHRS4_uc021rrb.1_5'UTR|DHRS4_uc021rrc.1_5'UTR|DHRS4_uc021rre.1_Missense_Mutation_p.E51G|DHRS4_uc010tnt.2_Missense_Mutation_p.E77G	NM_198083	NP_001180565	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 2 (DHRS4L2), transcript variant 1, mRNA.	79						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGCAGGGGGAGGGGCTGAGC	0.687													3	50					0	0	1	0	0	G	24459498	A	G	24459498	3	3	306	1	0	0	0	0	1	0	0	0	4492	304	11	3		3	DHRS4	14	24459498	Missense_Mutation	SNP	A	TCGA-ET-A2N1-01A-11D-A18F-08		24459498	82890042	7	5296											
C15orf2	23742	broad.mit.edu	37	chr15	24923276	24923276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctgcacagtcagtcagGgcaccagctacagcttccaa	9	14	2	0			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr15:24923276G>A	uc001ywo.3	+	0	2736	c.2262G>A	c.(2260-2262)agG>agA	p.R754R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	754					cell differentiation|multicellular organismal development|spermatogenesis			p.V753F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGTCAGTCAGGGCACCAGCTA	0.572													7	191					0	0	1	0	0	A	24923276	G	A	24923276	2	1	306	1	0	0	0	0	0	0	0	1	1784	1223	43	2		2	C15orf2	15	24923276	Silent	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08		24923276	77608116	8	5297											
RABEP2	79874	broad.mit.edu	37	chr16	28920058	28920058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctttacctcatggtgcaGgcacttgtgggtggtgacca	13	11	1	1			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr16:28920058G>T	uc002drq.3	-	7	1165	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.L302M|RABEP2_uc010byn.3_Missense_Mutation_p.L341M	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	373					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATGGTGCAGGCACTTGTGG	0.602													41	71					0	0	1	0	0	T	28920058	G	T	28920058	3	4	306	1	0	0	0	0	1	0	0	0	12962	991	35	4	616	4	RABEP2	16	28920058	Missense_Mutation	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08		28920058	61434695	9	5298											
NGFR	4804	broad.mit.edu	37	chr17	47583935	47583935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgacgaggccaaccacgtGgacccgtgcctgccctgcac	11	18	0	0			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr17:47583935G>A	uc002ioz.4	+	2	608	c.483G>A	c.(481-483)gtG>gtA	p.V161V		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	161					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCAACCACGTGGACCCGTGCC	0.701													9	9					0	0	1	0	0	A	47583935	G	A	47583935	2	1	306	1	0	0	0	0	0	0	0	1	10396	1335	47	2		2	NGFR	17	47583935	Silent	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08		47583935	33611275	10	5299											
FAM83E	54854	broad.mit.edu	37	chr19	49116552	49116552	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgctggccctcggaataTagaaagccggggctggcccc	14	14	0	1			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr19:49116552T>C	uc002pjn.2	-	0	143	c.78A>G	c.(76-78)ctA>ctG	p.L26L		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	26										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTCGGAATATAGAAAGCCGG	0.701													6	6					0	0	1	0	0	C	49116552	T	C	49116552	2	2	306	1	0	0	0	0	0	0	0	1	5637	1393	49	3		3	FAM83E	19	49116552	Silent	SNP	T	TCGA-ET-A2N1-01A-11D-A18F-08		49116552	10012431	11	5300											
PIK3CD	5293	broad.mit.edu	37	chr1	9783218	9783218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctccccaccggggaccGcacaggcctcattgaggtgg	13	16	1	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:9783218G>A	uc001aqe.4	+	18	2742	c.2534G>A	c.(2533-2535)cGc>cAc	p.R845H	PIK3CD_uc001aqb.4_Missense_Mutation_p.R821H|PIK3CD_uc010oaf.2_Missense_Mutation_p.R820H|PIK3CD_uc021ogb.1_Missense_Mutation_p.R605H	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	821	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R821H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGGGGACCGCACAGGCCTC	0.602													5	398					0	0	1	0	0	A	9783218	G	A	9783218	3	1	307	1	0	0	0	0	1	0	0	0	11915	1087	38	1	2532	1	PIK3CD	1	9783218	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		9783218	239467403	1	5301											
PRDX1	5052	broad.mit.edu	37	chr1	45984618	45984618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattctctcacctttgtagTcagacaggctgatatcttta	6	9	4	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:45984618T>C	uc001coc.3	-	1	413	c.98A>G	c.(97-99)gAc>gGc	p.D33G	PRDX1_uc001cob.3_Missense_Mutation_p.D33G|PRDX1_uc001coa.3_Missense_Mutation_p.D33G|PRDX1_uc021omw.1_Missense_Mutation_p.D33G	NM_181696	NP_859048	Q06830	PRDX1_HUMAN	Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA.	33	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	p.S32fs*41(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					ACCTTTGTAGTCAGACAGGCT	0.413													6	89					0	0	1	0	0	C	45984618	T	C	45984618	3	2	307	1	0	0	0	0	1	0	0	0	12464	1667	58	3	521	3	PRDX1	1	45984618	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	36201400	45984618	203266003	2	5302											
CGN	57530	broad.mit.edu	37	chr1	151491695	151491695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcgccagtccaccaacCactggacctctagcacaaaa	9	15	1	0			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:151491695C>T	uc009wmw.3	+	1	844	c.700C>T	c.(700-702)Cac>Tac	p.H234Y		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	228	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCCACCAACCACTGGACCTC	0.587													89	176					0	0	1	0	0	T	151491695	C	T	151491695	3	4	307	1	0	0	0	0	1	0	0	0	3303	594	21	2	702	2	CGN	1	151491695	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	105507077	151491695	97758926	3	5303											
GON4L	54856	broad.mit.edu	37	chr1	155734928	155734928	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctccagtttctggcccaaCtggagtccccactgactgac	8	16	1	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:155734928C>G	uc001flz.2	-	20	4433	c.4336G>C	c.(4336-4338)Gtt>Ctt	p.V1446L	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.V1446L|GON4L_uc009wrh.1_Missense_Mutation_p.V1446L|GON4L_uc001fma.1_Missense_Mutation_p.V1446L|GON4L_uc001fmb.4_Missense_Mutation_p.V642L|GON4L_uc001fmc.3_Missense_Mutation_p.V1446L|GON4L_uc001fmd.4_Missense_Mutation_p.V1446L|GON4L_uc009wri.3_Missense_Mutation_p.V1032L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1446					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTGGCCCAACTGGAGTCCCC	0.502													22	232					0	0	1	0	0	G	155734928	C	G	155734928	3	3	307	1	0	0	0	0	1	0	0	0	6572	565	20	4	2551	4	GON4L	1	155734928	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	4243233	155734928	93515693	4	5304											
ATP1A2	477	broad.mit.edu	37	chr1	160094203	160094203	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgacctccggatcatcTcttctcatggctgtaaggtg	10	12	3	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:160094203T>A	uc001fvc.3	+	5	745	c.613T>A	c.(613-615)Tct>Act	p.S205T	ATP1A2_uc001fvb.2_Missense_Mutation_p.S205T|ATP1A2_uc010piz.1_Missense_Mutation_p.S50T	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	205					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCGGATCATCTCTTCTCATGG	0.562													13	20					0	0	1	0	0	A	160094203	T	A	160094203	3	1	307	1	0	0	0	0	1	0	0	0	1129	1551	54	5	635	5	ATP1A2	1	160094203	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	4359275	160094203	89156418	5	5305											
LY9	4063	broad.mit.edu	37	chr1	160784239	160784239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagaggaggaacaacgGgggagactgtggtaggggtc	18	8	0	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:160784239G>A	uc001fwu.3	+	3	810	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	LY9_uc010pjs.1_Missense_Mutation_p.G254R|LY9_uc001fwv.3_Missense_Mutation_p.G254R|LY9_uc001fww.3_Missense_Mutation_p.G254R|LY9_uc001fwy.1_Missense_Mutation_p.G156R|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	254	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGAACAACGGGGGAGACTGT	0.582													50	92					0	0	1	0	0	A	160784239	G	A	160784239	3	1	307	1	0	0	0	0	1	0	0	0	9101	1232	43	2	906	2	LY9	1	160784239	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	690036	160784239	88466382	6	5306											
CACNA1E	777	broad.mit.edu	37	chr1	181767534	181767534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgccaaagccccggccccTcctttcctacagctccctga	6	22	0	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:181767534T>C	uc009wxt.3	+	47	6701	c.6506T>C	c.(6505-6507)cTc>cCc	p.L2169P	CACNA1E_uc001gow.3_Missense_Mutation_p.L2126P|CACNA1E_uc009wxs.3_Missense_Mutation_p.L2107P	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2169					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCCGGCCCCTCCTTTCCTAC	0.637													4	202					0	0	1	0	0	C	181767534	T	C	181767534	3	2	307	1	0	0	0	0	1	0	0	0	2542	1551	54	3	6563	3	CACNA1E	1	181767534	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	20983295	181767534	67483087	7	5307											
HK2	3099	broad.mit.edu	37	chr2	75081444	75081444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtatctctaccacatgCgcctctctgatgagaccctc	6	16	2	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr2:75081444C>T	uc002snd.3	+	1	2014	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	30	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R30C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCACATGCGCCTCTCTGA	0.488													5	570					0	0	1	0	0	T	75081444	C	T	75081444	3	4	307	1	0	0	0	0	1	0	0	0	7191	768	27	1	94	1	HK2	2	75081444	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08		75081444	168117929	8	5308											
ALPI	248	broad.mit.edu	37	chr2	233321115	233321115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaggccctggatgctGccaagaagctgcagcccatc	12	14	0	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr2:233321115G>T	uc002vst.4	+	1	201	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	ALPI_uc002vsu.4_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	42					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTGGATGCTGCCAAGAAGCT	0.632													4	154					0	0	1	0	0	T	233321115	G	T	233321115	3	4	307	1	0	0	0	0	1	0	0	0	543	1319	46	4	130	4	ALPI	2	233321115	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	158239671	233321115	9878258	9	5309											
HACL1	26061	broad.mit.edu	37	chr3	15616558	15616558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttagtctggcaccaaAtaacacaattacatcagcaa	4	11	2	0			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr3:15616558A>G	uc003caf.3	-	9	995	c.835T>C	c.(835-837)Ttt>Ctt	p.F279L	HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Intron|HACL1_uc011avs.2_Missense_Mutation_p.F252L|HACL1_uc011avt.2_Missense_Mutation_p.F253L|HACL1_uc003cag.3_Intron|HACL1_uc011avu.2_Missense_Mutation_p.F197L	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.	279					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTGGCACCAAATAACACAATT	0.318													12	78					0	0	1	0	0	G	15616558	A	G	15616558	3	3	307	1	0	0	0	0	1	0	0	0	6941	101	4	3	933	3	HACL1	3	15616558	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08		15616558	182405872	10	5310											
PHLDB2	90102	broad.mit.edu	37	chr3	111693318	111693318	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaagactcatgacagaatcTattatatggtagccccatcg	7	10	3	3			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr3:111693318T>A	uc010hqa.3	+	17	4081	c.3670T>A	c.(3670-3672)Tat>Aat	p.Y1224N	PHLDB2_uc003dyc.3_Missense_Mutation_p.Y1208N|PHLDB2_uc003dyd.3_Missense_Mutation_p.Y1181N|PHLDB2_uc003dyg.3_Missense_Mutation_p.Y1224N|PHLDB2_uc003dyh.3_Missense_Mutation_p.Y1181N|PHLDB2_uc003dyi.3_Missense_Mutation_p.Y715N|PHLDB2_uc003dyj.3_Missense_Mutation_p.Y279N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1224	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGACAGAATCTATTATATGGT	0.388													47	112					0	0	1	0	0	A	111693318	T	A	111693318	3	1	307	1	0	0	0	0	1	0	0	0	11852	1522	53	5	3821	5	PHLDB2	3	111693318	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	96076760	111693318	86329112	11	5311											
PDLIM3	27295	broad.mit.edu	37	chr4	186429465	186429465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catattacctcatcaaaggtGtttcccctagggctgttgaa	8	10	2	1	rs1141102		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr4:186429465G>A	uc003ixw.4	-	4	774	c.650C>T	c.(649-651)aCa>aTa	p.T217I	PDLIM3_uc003ixx.4_Intron|PDLIM3_uc010isi.3_Intron	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	217				T -> I (in Ref. 1; AAC16670).		sarcomere	zinc ion binding	p.E216K(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	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)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CATCAAAGGTGTTTCCCCTAG	0.393													7	220					0	0	1	0	0	A	186429465	G	A	186429465	3	1	307	1	0	0	0	0	1	0	0	0	11681	1377	48	2	460	2	PDLIM3	4	186429465	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		186429465	4724811	12	5312											
POM121	9883	broad.mit.edu	37	chr7	72413486	72413486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgggggccgccaagcCggcccttgcccccagctttg	13	19	0	0			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:72413486C>T	uc003twk.2	+	10	2954	c.2954C>T	c.(2953-2955)cCg>cTg	p.P985L	POM121_uc003twj.3_Missense_Mutation_p.P720L|POM121_uc010lam.1_Missense_Mutation_p.P720L	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	985	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCGCCAAGCCGGCCCTTGCC	0.657													8	171					0	0	1	0	0	T	72413486	C	T	72413486	3	4	307	1	0	0	0	0	1	0	0	0	12239	652	23	1	2197	1	POM121	7	72413486	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08		72413486	86725177	13	5313											
COL1A2	1278	broad.mit.edu	37	chr7	94058709	94058709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgagggcaacagcagGttcacttacactgttcttgt	11	9	2	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:94058709G>A	uc003ung.1	+	50	4392	c.3921G>A	c.(3919-3921)agG>agA	p.R1307R	COL1A2_uc011kib.1_Silent_p.R159R	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1307	Fibrillar collagen NC1.				Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAACAGCAGGTTCACTTACA	0.453										HNSCC(75;0.22)			28	51					0	0	1	0	0	A	94058709	G	A	94058709	2	1	307	1	0	0	0	0	0	0	0	1	3678	1252	44	2		2	COL1A2	7	94058709	Silent	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	21645223	94058709	65079954	14	5314											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				63	76					0	0	1	0	0	T	140453136	A	T	140453136	3	4	307	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08	46394427	140453136	18685527	15	5315											
CHMP7	91782	broad.mit.edu	37	chr8	23115930	23115930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgttcaaggcatcctgGaccggatctatgcctcccag	9	14	2	0			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:23115930G>A	uc003xdc.2	+	6	1576	c.928G>A	c.(928-930)Gac>Aac	p.D310N	CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Missense_Mutation_p.D200N|CHMP7_uc003xde.2_Missense_Mutation_p.D168N	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	310					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGCATCCTGGACCGGATCTA	0.572													11	531					0	0	1	0	0	A	23115930	G	A	23115930	3	1	307	1	0	0	0	0	1	0	0	0	3361	1174	41	2	950	2	CHMP7	8	23115930	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		23115930	123248092	16	5316											
RP1	6101	broad.mit.edu	37	chr8	55541490	55541490	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggcagtcatttggctcttCtgaacaggtatctagtagtt	11	7	4	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:55541490C>A	uc003xsd.1	+	3	5196	c.5048C>A	c.(5047-5049)tCt>tAt	p.S1683Y	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1683					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	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)			TTTGGCTCTTCTGAACAGGTA	0.413													20	219					0	0	1	0	0	A	55541490	C	A	55541490	3	1	307	1	0	0	0	0	1	0	0	0	13532	913	32	4	5058	4	RP1	8	55541490	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	32425560	55541490	90822532	17	5317											
DCAF13	25879	broad.mit.edu	37	chr8	104427255	104427255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgacggtcgccccttGtgagcgcaaccccacctccg	12	18	0	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:104427255G>C	uc003yln.3	+	0	314	c.37G>C	c.(37-39)Gtg>Ctg	p.V13L	SLC25A32_uc003yll.3_5'UTR|SLC25A32_uc011lhr.2_5'UTR|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTCGCCCCTTGTGAGCGCAAC	0.697													16	19					0	0	1	0	0	C	104427255	G	C	104427255	3	2	307	1	0	0	0	0	1	0	0	0	4266	1377	48	4	39	4	DCAF13	8	104427255	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	48885765	104427255	41936767	18	5318											
OR4C46	119749	broad.mit.edu	37	chr11	51515327	51515327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgttttgctggggcttAcagagaatccaaagatgcag	12	6	0	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr11:51515327A>G	uc010ric.2	+	0	46	c.46A>G	c.(46-48)Aca>Gca	p.T16A		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCTGGGGCTTACAGAGAATCC	0.343													5	188					0	0	1	0	0	G	51515327	A	G	51515327	3	3	307	1	0	0	0	0	1	0	0	0	11051	391	14	3	48	3	OR4C46	11	51515327	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08		51515327	83491189	19	5319											
NCAPD3	23310	broad.mit.edu	37	chr11	134080347	134080347	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacttgattggctacactGcctattcatgaggaataaag	8	7	1	2	rs142896286		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr11:134080347G>A	uc001qhd.1	-	4	989	c.383_splice	c.e4-1	p.G128_splice	NCAPD3_uc010scm.1_Splice_Site|NCAPD3_uc009zda.1_Splice_Site	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	128					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGGCTACACTGCCTATTCATG	0.358													50	63					0	0	1	0	0	A	134080347	G	A	134080347	5	1	307	1	0	0	0	0	0	0	1	0	10206	1333	46	2	4240	2	NCAPD3	11	134080347	Splice_Site	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	82565020	134080347	926169	20	5320											
ACACB	32	broad.mit.edu	37	chr12	109614053	109614053	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagagtgcggaggacttcccGatccttttcagacaagtgag	13	9	1	3			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr12:109614053G>T	uc001tob.3	+	8	1541	c.1422G>T	c.(1420-1422)ccG>ccT	p.P474P	ACACB_uc001toc.3_Silent_p.P474P	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	474	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGACTTCCCGATCCTTTTCA	0.478													169	227					0	0	1	0	0	T	109614053	G	T	109614053	2	4	307	1	0	0	0	0	0	0	0	1	107	1045	37	4		4	ACACB	12	109614053	Silent	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		109614053	24237842	21	5321											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281729	49281729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatcatcttcttcttgtGtttcctgccctatcacacac	4	14	5	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr13:49281729G>A	uc010acw.1	+	1	1066	c.776G>A	c.(775-777)tGt>tAt	p.C259Y	CYSLTR2_uc010acx.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010acy.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010acz.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010ada.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010adb.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010adc.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010add.1_Missense_Mutation_p.C259Y|CYSLTR2_uc001vck.2_Missense_Mutation_p.C259Y|CYSLTR2_uc021rjl.1_Missense_Mutation_p.C259Y	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	259					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTCTTCTTGTGTTTCCTGCCC	0.498													50	63					0	0	1	0	0	A	49281729	G	A	49281729	3	1	307	1	0	0	0	0	1	0	0	0	4202	1377	48	2	778	2	CYSLTR2	13	49281729	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		49281729	65888149	22	5322											
GPR97	222487	broad.mit.edu	37	chr16	57718006	57718006	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctgtcttccactacttCctgctctgtgccttcacctg	9	15	3	0			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr16:57718006C>T	uc002emh.3	+	8	1147	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	GPR97_uc010vhv.2_Silent_p.F228F|GPR97_uc010cdd.3_Intron|GPR97_uc010cde.3_Intron	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	348					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCACTACTTCCTGCTCTGTG	0.587													49	118					0	0	1	0	0	T	57718006	C	T	57718006	2	4	307	1	0	0	0	0	0	0	0	1	6720	854	30	2		2	GPR97	16	57718006	Silent	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08		57718006	32636747	23	5323											
GLG1	2734	broad.mit.edu	37	chr16	74530417	74530417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagtcatccgatgacagCtcagccacccggagaatggc	11	12	2	3			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr16:74530417C>T	uc002fcx.3	-	4	950	c.900G>A	c.(898-900)gaG>gaA	p.E300E	GLG1_uc002fcw.4_Silent_p.E289E|GLG1_uc002fcy.4_Silent_p.E300E|GLG1_uc002fcz.4_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	300						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCGATGACAGCTCAGCCACCC	0.448													6	123					0	0	1	0	0	T	74530417	C	T	74530417	2	4	307	1	0	0	0	0	0	0	0	1	6436	796	28	2		2	GLG1	16	74530417	Silent	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	16812411	74530417	15824336	24	5324											
VPS53	55275	broad.mit.edu	37	chr17	617889	617889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccagctgcacctcggGcgtgagctgcagcacggctt	15	13	0	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr17:617889G>A	uc010cjo.2	-	0	208	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.P21S|VPS53_uc002frn.2_Missense_Mutation_p.P21S|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.P21S	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	21					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGCACCTCGGGCGTGAGCTGC	0.711													16	212					0	0	1	0	0	A	617889	G	A	617889	3	1	307	1	0	0	0	0	1	0	0	0	17212	1203	42	2	2540	2	VPS53	17	617889	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		617889	80577321	25	5325											
CYP24A1	1591	broad.mit.edu	37	chr20	52775530	52775530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacaggcttttaaatacgGcatattcctcaaatcttctg	6	10	3	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr20:52775530G>A	uc002xwv.2	-	7	1521	c.1123C>T	c.(1123-1125)Ccg>Tcg	p.P375S	CYP24A1_uc002xwu.1_Missense_Mutation_p.P233S|CYP24A1_uc002xww.2_Missense_Mutation_p.P375S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	375					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTTAAATACGGCATATTCCTC	0.388													4	206					0	0	1	0	0	A	52775530	G	A	52775530	3	1	307	1	0	0	0	0	1	0	0	0	4154	1203	42	2	437	2	CYP24A1	20	52775530	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		52775530	10249990	26	5326											
SFI1	9814	broad.mit.edu	37	chr22	31927093	31927093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattcgaatgacttttggaAgagtatttccctctaaagcc	9	8	1	2			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr22:31927093A>G	uc003ale.3	+	3	709	c.316A>G	c.(316-318)Aga>Gga	p.R106G	SFI1_uc003ald.1_Intron|SFI1_uc003alf.3_Missense_Mutation_p.R106G|SFI1_uc003alg.3_Intron|SFI1_uc011alp.2_Intron|SFI1_uc011alq.2_Intron|SFI1_uc003alh.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	106					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GACTTTTGGAAGAGTATTTCC	0.318													6	87					0	0	1	0	0	G	31927093	A	G	31927093	3	3	307	1	0	0	0	0	1	0	0	0	14156	64	3	3	326	3	SFI1	22	31927093	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08		31927093	19377473	27	5327											
FOXP3	50943	broad.mit.edu	37	chrX	49114015	49114015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggcgtgggcatccaccGttgagagctggggggcacat	17	11	0	1			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chrX:49114015G>A	uc011mnb.2	-	2	345	c.323C>T	c.(322-324)aCg>aTg	p.T108M	FOXP3_uc011mnc.2_Missense_Mutation_p.T108M|FOXP3_uc004dnf.4_Missense_Mutation_p.T108M|FOXP3_uc004dne.4_Missense_Mutation_p.T73M|FOXP3_uc022bwa.1_Missense_Mutation_p.T58M	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	108					B cell homeostasis|T cell homeostasis|T cell receptor signaling pathway|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of CREB transcription factor activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of T cell anergy|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	DNA bending activity|NF-kappaB binding|NFAT protein binding|chromatin binding|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GGCATCCACCGTTGAGAGCTG	0.677													3	29					0	0	1	0	0	A	49114015	G	A	49114015	3	1	307	1	0	0	0	0	1	0	0	0	6028	1145	40	1	1008	1	FOXP3	23	49114015	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		49114015	106156545	28	5328											
BEST4	266675	broad.mit.edu	37	chr1	45250578	45250578	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgatgcttgctcaccTgcaagttgcggtctatgagc	11	11	2	2			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:45250578T>C	uc001cmm.3	-	7	1042	c.993_splice	c.e7+1	p.Q331_splice		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	331			Q -> E (in dbSNP:rs16832241).			chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CTTGCTCACCTGCAAGTTGCG	0.577													3	73					0	0	1	0	0	C	45250578	T	C	45250578	5	2	308	1	0	0	0	0	0	0	1	0	1407	1594	55	3	441	3	BEST4	1	45250578	Splice_Site	SNP	T	TCGA-ET-A2N5-01A-11D-A18F-08		45250578	204000043	1	5329											
AMPD1	270	broad.mit.edu	37	chr1	115222322	115222322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggcgccggtgggtatAggtcttactgtgaaaaataa	12	7	2	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:115222322A>G	uc001efe.2	-	6	922	c.874T>C	c.(874-876)Tat>Cat	p.Y292H	AMPD1_uc001eff.2_Missense_Mutation_p.Y288H	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	259					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CGGTGGGTATAGGTCTTACTG	0.413													3	114					0	0	1	0	0	G	115222322	A	G	115222322	3	3	308	1	0	0	0	0	1	0	0	0	585	420	15	3	1508	3	AMPD1	1	115222322	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08	69971744	115222322	134028299	2	5330											
EPHA6	285220	broad.mit.edu	37	chr3	97467477	97467477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattggacaccagagacgaAtagtcagcagcatacagact	9	9	1	2			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:97467477A>G	uc010how.1	+	17	3368	c.3325A>G	c.(3325-3327)Ata>Gta	p.I1109V		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	1014						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGAGACGAATAGTCAGCAG	0.428													3	31					0	0	1	0	0	G	97467477	A	G	97467477	3	3	308	1	0	0	0	0	1	0	0	0	5171	101	4	3	3512	3	EPHA6	3	97467477	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08		97467477	100554953	3	5331											
SOX2	6657	broad.mit.edu	37	chr3	181430265	181430265	+	Frame_Shift_Del	DEL	C	C	-													aaccagaaaaacagcccggaCcgcgtcaagcggcccatgaa							TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:181430265delC	uc003fkx.3	+	0	554	c.117delC	c.(115-117)gacfs	p.D39fs	SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA.	39					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACAGCCCGGACCGCGTCAAGC	0.687			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						19	12	---	---	---	---						-	181430265	C	-	181430265	7	5	308	1	0	1	0	1	0	0	0	0	14949	506	18	0	119	0	SOX2	3	181430265	Frame_Shift_Del	DEL	C	TCGA-ET-A2N5-01A-11D-A18F-08	83962788	181430265	16592165	4	5332											
CLCN2	1181	broad.mit.edu	37	chr3	184071569	184071569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatgatgtcctccacaCgcacccggtactgcctgggg	11	16	0	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:184071569C>T	uc003foi.3	-	15	1860	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	CLCN2_uc003foh.3_Missense_Mutation_p.R103H|CLCN2_uc010hya.2_Missense_Mutation_p.R562H|CLCN2_uc011brl.2_Missense_Mutation_p.R579H|CLCN2_uc011brm.2_Missense_Mutation_p.R535H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	579						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTCCTCCACACGCACCCGGTA	0.642													3	11					0	0	1	0	0	T	184071569	C	T	184071569	3	4	308	1	0	0	0	0	1	0	0	0	3463	536	19	1	996	1	CLCN2	3	184071569	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08	2641304	184071569	13950861	5	5333											
WHSC2	7469	broad.mit.edu	37	chr4	1985181	1985181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcaggtcctccgtgtgCtcgctcagcttgatctggat	13	11	2	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr4:1985181C>T	uc003gem.3	-	10	1728	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E	WHSC2_uc003gek.3_Silent_p.E221E|WHSC2_uc003gel.3_Silent_p.E409E|WHSC2_uc003gen.3_Silent_p.E349E	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	484					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			CCTCCGTGTGCTCGCTCAGCT	0.642													4	150					0	0	1	0	0	T	1985181	C	T	1985181	2	4	308	1	0	0	0	0	0	0	0	1	17361	796	28	2		2	WHSC2	4	1985181	Silent	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08		1985181	189169095	6	5334											
HHIP	64399	broad.mit.edu	37	chr4	145581093	145581093	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttgtaataaaagaaagaatCttgcaggagaaaataagggg	11	2	1	3			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr4:145581093C>G	uc003ijr.2	+	3	1614	c.934C>G	c.(934-936)Ctt>Gtt	p.L312V	HHIP_uc003ijs.2_Intron	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	0						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAGAAAGAATCTTGCAGGAGA	0.313													2	5					0	0	1	0	0	G	145581093	C	G	145581093	3	3	308	1	0	0	0	0	1	0	0	0	7092	928	32	4		4	HHIP	4	145581093	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08	143595912	145581093	45573183	7	5335											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			38	58					0	0	1	0	0	C	533874	T	C	533874	3	2	308	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-ET-A2N5-01A-11D-A18F-08		533874	134472642	8	5336											
PTPRB	5787	broad.mit.edu	37	chr12	70948968	70948968	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctcaccaccactgtgaaGtatttcacagctccattggt	6	13	3	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr12:70948968G>T	uc001swc.4	-	19	5160	c.5115C>A	c.(5113-5115)taC>taA	p.Y1705*	PTPRB_uc001swb.4_Nonsense_Mutation_p.Y1487*|PTPRB_uc010sto.2_Nonsense_Mutation_p.Y1397*|PTPRB_uc010stp.2_Nonsense_Mutation_p.Y1397*|PTPRB_uc001swa.4_Nonsense_Mutation_p.Y1617*	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	1487	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S1704F(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACTGTGAAGTATTTCACAG	0.443													28	46					0	0	1	0	0	T	70948968	G	T	70948968	4	4	308	1	0	0	0	0	0	1	0	0	12796	1024	36	4	1592	4	PTPRB	12	70948968	Nonsense_Mutation	SNP	G	TCGA-ET-A2N5-01A-11D-A18F-08		70948968	62902927	9	5337											
ZFP90	146198	broad.mit.edu	37	chr16	68598529	68598529	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaccctattcttgtaaggaAtgtgggaaaaacttcagccg	9	8	2	0			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr16:68598529A>T	uc010cff.3	+	4	2131	c.1839A>T	c.(1837-1839)gaA>gaT	p.E613D	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.E613D|ZFP90_uc002ewe.3_Missense_Mutation_p.E613D	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	613					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTTGTAAGGAATGTGGGAAAA	0.383													52	69					0	0	1	0	0	T	68598529	A	T	68598529	3	4	308	1	0	0	0	0	1	0	0	0	17651	98	4	5	1853	5	ZFP90	16	68598529	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08		68598529	21756224	10	5338											
GPR179	440435	broad.mit.edu	37	chr17	36484690	36484690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacagatttctgttttggCaggtgttgcttcctgtgcct	13	8	1	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr17:36484690C>T	uc002hpz.3	-	10	4783	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1588						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1587P(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTTTTGGCAGGTGTTGCT	0.502													5	159					0	0	1	0	0	T	36484690	C	T	36484690	3	4	308	1	0	0	0	0	1	0	0	0	6674	710	25	2	2345	2	GPR179	17	36484690	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08		36484690	44710520	11	5339											
ZNF491	126069	broad.mit.edu	37	chr19	11917928	11917928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccttatgaatgtaagcAttgtgggaaagccttcactt	8	7	1	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr19:11917928A>G	uc002mso.1	+	2	1445	c.1160A>G	c.(1159-1161)cAt>cGt	p.H387R	ZNF491_uc021upj.1_Missense_Mutation_p.H387R	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAATGTAAGCATTGTGGGAAA	0.393													27	36					0	0	1	0	0	G	11917928	A	G	11917928	3	3	308	1	0	0	0	0	1	0	0	0	17939	217	8	3	1162	3	ZNF491	19	11917928	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08		11917928	47211055	12	5340											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919499	51919499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagggaggagcacatccccTcatcccctgaagccttttca	8	15	2	1			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr19:51919499T>C	uc010eow.3	-	2	657	c.113A>G	c.(112-114)gAg>gGg	p.E38G	SIGLEC10_uc002pwp.3_Intron|SIGLEC10_uc002pwo.3_Intron|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|LOC100129083_uc021uym.1_Intron			Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 3, mRNA.	33	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		gCACATCCCCTCATCCCCTGA	0.557													3	76					0	0	1	0	0	C	51919499	T	C	51919499	3	2	308	1	0	0	0	0	1	0	0	0	14306	1566	54	3		3	SIGLEC10	19	51919499	Missense_Mutation	SNP	T	TCGA-ET-A2N5-01A-11D-A18F-08	40001571	51919499	7209484	13	5341											
ASXL1	171023	broad.mit.edu	37	chr20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagagcaatgttacagGccaagggaagaagctttttg	12	6	1	3			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:31024411G>A	uc021wbw.1	+	12	4328	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_uc002wxs.3_Missense_Mutation_p.G1298D|ASXL1_uc010geb.3_Missense_Mutation_p.G1190D	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1299					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTTACAGGCCAAGGGAAG	0.557			"F, N, Mis"		"MDS, CMML"								27	48					0	0	1	0	0	A	31024411	G	A	31024411	3	1	308	1	0	0	0	0	1	0	0	0	1066	1203	42	2	3952	2	ASXL1	20	31024411	Missense_Mutation	SNP	G	TCGA-ET-A2N5-01A-11D-A18F-08		31024411	32001109	14	5342											
CEP250	11190	broad.mit.edu	37	chr20	34087927	34087927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagcgtctaactgataCtgaggctgagaagagccagg	15	7	1	5			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:34087927C>T	uc021wco.1	+	27	4474	c.3827C>T	c.(3826-3828)aCt>aTt	p.T1276I	CEP250_uc010zve.2_Missense_Mutation_p.T644I	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1276	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTAACTGATACTGAGGCTGAG	0.512													45	65					0	0	1	0	0	T	34087927	C	T	34087927	3	4	308	1	0	0	0	0	1	0	0	0	3252	565	20	2	3925	2	CEP250	20	34087927	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08	3063516	34087927	28937593	15	5343											
BCAP31	10134	broad.mit.edu	37	chrX	152986357	152986357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcacaaggatgacaatgaGaaccacaaagaaggtgttgc	11	8	0	3			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chrX:152986357G>A	uc004fid.2	-	2	794	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	BCAP31_uc011myz.1_Missense_Mutation_p.L55F|BCAP31_uc011mza.1_Missense_Mutation_p.L55F|BCAP31_uc004fie.2_Missense_Mutation_p.L55F	NM_001139457	NP_005736	P51572	BAP31_HUMAN	Homo sapiens B-cell receptor-associated protein 31 (BCAP31), transcript variant 1, mRNA.	55					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment membrane|cytosol|endoplasmic reticulum membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGACAATGAGAACCACAAAG	0.502													7	70					0	0	1	0	0	A	152986357	G	A	152986357	3	1	308	1	0	0	0	0	1	0	0	0	1347	942	33	2	601	2	BCAP31	23	152986357	Missense_Mutation	SNP	G	TCGA-ET-A2N5-01A-11D-A18F-08		152986357	2284203	16	5344											
TCF7L1	83439	broad.mit.edu	37	chr2	85536172	85536172	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctggcctccaagagcAagaagccatgtgttcagtac	11	12	1	2			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr2:85536172A>T	uc002soy.3	+	11	1579	c.1354A>T	c.(1354-1356)Aag>Tag	p.K452*		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	452					Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CTCCAAGAGCAAGAAGCCATG	0.602													112	160					0	0	1	0	0	T	85536172	A	T	85536172	4	4	309	1	0	0	0	0	0	1	0	0	15694	131	5	5	1400	5	TCF7L1	2	85536172	Nonsense_Mutation	SNP	A	TCGA-ET-A39I-01A-11D-A19J-08		85536172	157663201	1	5345											
KBTBD10	10324	broad.mit.edu	37	chr2	170367329	170367329	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttacccagcaaaatcagatAtatgtggtaggaggactata	10	6	1	1			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr2:170367329A>T	uc002ueu.1	+	0	1118	c.1041A>T	c.(1039-1041)atA>atT	p.I347I	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	347					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						AAAATCAGATATATGTGGTAG	0.413													16	85					0	0	1	0	0	T	170367329	A	T	170367329	2	4	309	1	0	0	0	0	0	0	0	1	7990	439	16	5		5	KBTBD10	2	170367329	Silent	SNP	A	TCGA-ET-A39I-01A-11D-A19J-08	84831157	170367329	72832044	2	5346											
ZNF148	7707	broad.mit.edu	37	chr3	124951687	124951687	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttatcagtcacaaagttaAggctcgggctattcaaatag	10	7	3	0			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr3:124951687A>C	uc003ehx.4	-	8	2369	c.1883T>G	c.(1882-1884)cTt>cGt	p.L628R	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.L628R|ZNF148_uc010hsa.3_Missense_Mutation_p.L628R|ZNF148_uc003eia.4_Missense_Mutation_p.L628R|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	628					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CACAAAGTTAAGGCTCGGGCT	0.453													28	162					0	0	1	0	0	C	124951687	A	C	124951687	3	2	309	1	0	0	0	0	1	0	0	0	17731	72	3	5	505	5	ZNF148	3	124951687	Missense_Mutation	SNP	A	TCGA-ET-A39I-01A-11D-A19J-08		124951687	73070743	3	5347											
MEPCE	56257	broad.mit.edu	37	chr7	100028059	100028059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggctatcagccccacCggccacctggggggggcggg	17	14	1	0			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr7:100028059C>T	uc003uuw.3	+	0	806	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_Intron	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	140	Gly-rich.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGCCCCACCGGCCACCTGG	0.706													4	9					0	0	1	0	0	T	100028059	C	T	100028059	3	4	309	1	0	0	0	0	1	0	0	0	9477	643	23	1	420	1	MEPCE	7	100028059	Missense_Mutation	SNP	C	TCGA-ET-A39I-01A-11D-A19J-08		100028059	59110604	4	5348											
ZNF777	27153	broad.mit.edu	37	chr7	149129526	149129526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttgagcgcgtgcttggGgttgaacgtgggcccgcgtt	18	10	0	2			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr7:149129526G>A	uc003wfv.3	-	5	2000	c.1837C>T	c.(1837-1839)Ccc>Tcc	p.P613S		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCGTGCTTGGGGTTGAACGTG	0.672													42	66					0	0	1	0	0	A	149129526	G	A	149129526	3	1	309	1	0	0	0	0	1	0	0	0	18147	1232	43	2	662	2	ZNF777	7	149129526	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08	49101467	149129526	10009137	5	5349											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			39	52					0	0	1	0	0	C	533874	T	C	533874	3	2	309	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-ET-A39I-01A-11D-A19J-08		533874	134472642	6	5350											
SLC24A6	80024	broad.mit.edu	37	chr12	113745553	113745553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacagtgttgctcagccGgaagaccacacccagggacc	11	15	1	1			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr12:113745553G>A	uc001tvc.3	-	12	1564	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	SLC24A6_uc001tuz.3_Missense_Mutation_p.R157W|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.R190W	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	452					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TTGCTCAGCCGGAAGACCACA	0.642													3	45					0	0	1	0	0	A	113745553	G	A	113745553	3	1	309	1	0	0	0	0	1	0	0	0	14470	1115	39	1	416	1	SLC24A6	12	113745553	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		113745553	20106342	7	5351											
ATG2B	55102	broad.mit.edu	37	chr14	96794755	96794755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgtggcaagtttctgtgGttgaagcaaggaatttaacc	11	6	1	1			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr14:96794755G>A	uc001yfi.3	-	13	2457	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	698										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGTTTCTGTGGTTGAAGCAAG	0.358													10	51					0	0	1	0	0	A	96794755	G	A	96794755	3	1	309	1	0	0	0	0	1	0	0	0	1094	1261	44	2	4260	2	ATG2B	14	96794755	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		96794755	10554785	8	5352											
BPTF	2186	broad.mit.edu	37	chr17	65941716	65941716	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaagttcagactcagcctGaagttcagacccaaacaact	7	12	3	4			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr17:65941716G>T	uc002jgf.3	+	20	6953	c.6892G>T	c.(6892-6894)Gaa>Taa	p.E2298*	BPTF_uc002jge.3_Nonsense_Mutation_p.E2424*|BPTF_uc021uca.1_Nonsense_Mutation_p.E98*|BPTF_uc002jgg.3_Nonsense_Mutation_p.E98*|BPTF_uc002jgh.3_5'Flank	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2424					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACTCAGCCTGAAGTTCAGAC	0.582													3	19					0	0	1	0	0	T	65941716	G	T	65941716	4	4	309	1	0	0	0	0	0	1	0	0	1495	1291	45	4	7360	4	BPTF	17	65941716	Nonsense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		65941716	15253494	9	5353											
MLLT1	4298	broad.mit.edu	37	chr19	6230657	6230657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcgcagcgcaggtggTtcacgggcgggttgccttcc	15	13	2	0			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr19:6230657T>C	uc002mek.3	-	3	508	c.344A>G	c.(343-345)aAc>aGc	p.N115S		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	115					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.V114M(1)|p.N115K(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GCGCAGGTGGTTCACGGGCGG	0.617			T	MLL	AL								61	93					0	0	1	0	0	C	6230657	T	C	6230657	3	2	309	1	0	0	0	0	1	0	0	0	9625	1725	60	3	1371	3	MLLT1	19	6230657	Missense_Mutation	SNP	T	TCGA-ET-A39I-01A-11D-A19J-08		6230657	52898326	10	5354											
SLC6A16	28968	broad.mit.edu	37	chr19	49812977	49812977	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcaaagaaagaagggcagGaccagactgtagactggtga	14	7	0	5			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr19:49812977G>A	uc002pmz.3	-	4	1041	c.807C>T	c.(805-807)gtC>gtT	p.V269V	SLC6A16_uc002pna.3_Silent_p.V269V|MIR4324_uc021uxj.1_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	269						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGAAGGGCAGGACCAGACTGT	0.502													23	43					0	0	1	0	0	A	49812977	G	A	49812977	2	1	309	1	0	0	0	0	0	0	0	1	14679	1161	41	2		2	SLC6A16	19	49812977	Silent	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08	43582320	49812977	9316006	11	5355											
SPTA1	6708	broad.mit.edu	37	chr1	158583510	158583510	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccttagtcttgttcctaCctccctggatccacagcatc	6	16	1	0			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr1:158583510C>T	uc001fst.1	-	50	7188	c.6989_splice	c.e50+1	p.R2330_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2330	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGTTCCTACCTCCCTGGAT	0.493													27	43					0	0	1	0	0	T	158583510	C	T	158583510	5	4	310	1	0	0	0	0	0	0	1	0	15115	521	18	2	281	2	SPTA1	1	158583510	Splice_Site	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		158583510	90667111	1	5356											
IL1R1	3554	broad.mit.edu	37	chr2	102792036	102792036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtgtttaaagtcttgCctgaggtcttggaaaaacag	10	5	2	1			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr2:102792036C>T	uc002tbq.3	+	10	1552	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	IL1R1_uc010fix.3_Missense_Mutation_p.P381S|IL1R1_uc002tbr.3_Missense_Mutation_p.P412S	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	412	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAAAGTCTTGCCTGAGGTCTT	0.413													116	193					0	0	1	0	0	T	102792036	C	T	102792036	3	4	310	1	0	0	0	0	1	0	0	0	7658	739	26	2	1268	2	IL1R1	2	102792036	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		102792036	140407337	2	5357											
CELSR3	1951	broad.mit.edu	37	chr3	48668079	48668079	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgtaccaggctccgAgacatagagcaactcacggg	10	14	2	2			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr3:48668079A>G	uc003cuf.1	-	45	11424	c.11424T>C	c.(11422-11424)tcT>tcC	p.S3808S	CELSR3_uc003cug.3_Silent_p.S382S|CELSR3_uc011bbp.2_Silent_p.S367S|CELSR3_uc010hke.3_Silent_p.S254S|CELSR3_uc003cuk.3_Silent_p.S296S|CELSR3_uc003cuh.3_Silent_p.S403S|CELSR3_uc003cui.3_Silent_p.S403S|CELSR3_uc003cuj.3_Silent_p.S403S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAGGCTCCGAGACATAGAGC	0.617													2	2					0	0	1	0	0	G	48668079	A	G	48668079	2	3	310	1	0	0	0	0	0	0	0	1	3223	291	11	3		3	CELSR3	3	48668079	Silent	SNP	A	TCGA-ET-A39J-01A-11D-A19J-08		48668079	149354351	3	5358											
HAUS3	79441	broad.mit.edu	37	chr4	2241959	2241959	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtctgtatatctaaaagttGaaaattgtcttcatttgaac	6	5	4	2			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr4:2241959G>C	uc003ges.1	-	1	945	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.Q239E|HAUS3_uc003get.1_Missense_Mutation_p.Q239E	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 3 (HAUS3), mRNA.	239					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTAAAAGTTGAAAATTGTCT	0.373													12	25					0	0	1	0	0	C	2241959	G	C	2241959	3	2	310	1	0	0	0	0	1	0	0	0	6967	1299	45	4	1112	4	HAUS3	4	2241959	Missense_Mutation	SNP	G	TCGA-ET-A39J-01A-11D-A19J-08		2241959	188912317	4	5359											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				39	43					0	0	1	0	0	T	140453136	A	T	140453136	3	4	310	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39J-01A-11D-A19J-08		140453136	18685527	5	5360											
CALHM2	51063	broad.mit.edu	37	chr10	105209325	105209325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcacagacataagcctcaCcacgcagcagggagatgaca	11	12	1	3			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr10:105209325C>G	uc001kxa.3	-	2	985	c.374G>C	c.(373-375)gGt>gCt	p.G125A	CALHM2_uc001kxc.3_Missense_Mutation_p.G125A|CALHM2_uc001kxb.3_Missense_Mutation_p.G125A|CALHM2_uc001kxd.1_Missense_Mutation_p.G125A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	125						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ATAAGCCTCACCACGCAGCAG	0.612													23	43					0	0	1	0	0	G	105209325	C	G	105209325	3	3	310	1	0	0	0	0	1	0	0	0	2583	507	18	4	605	4	CALHM2	10	105209325	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		105209325	30325422	6	5361											
DYNLL1	8655	broad.mit.edu	37	chr12	120934286	120934286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagagatgcaacaggactCggtggagtgcgctactcagg	16	8	1	1			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr12:120934286C>T	uc001tyj.3	+	1	316	c.62C>T	c.(61-63)tCg>tTg	p.S21L	LOC100506668_uc001tyk.2_5'Flank|DYNLL1_uc001tyl.3_Missense_Mutation_p.S21L|DYNLL1_uc001tym.3_Missense_Mutation_p.S21L	NM_001037494	NP_003737	P63167	DYL1_HUMAN	Homo sapiens dynein, light chain, LC8-type 1 (DYNLL1), transcript variant 1, mRNA.	21					G2/M transition of mitotic cell cycle|actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACAGGACTCGGTGGAGTGC	0.557													33	67					0	0	1	0	0	T	120934286	C	T	120934286	3	4	310	1	0	0	0	0	1	0	0	0	4848	893	31	1	64	1	DYNLL1	12	120934286	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		120934286	12917609	7	5362											
SPTB	6710	broad.mit.edu	37	chr14	65266617	65266617	+	Frame_Shift_Del	DEL	A	A	-													gctagcccgctgtacttttcAatcatcttctcagtctcaat							TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr14:65266617delA	uc001xhr.3	-	7	963	c.912delT	c.(910-912)attfs	p.I304fs	SPTB_uc001xhs.3_Frame_Shift_Del_p.I304fs|SPTB_uc001xht.3_Frame_Shift_Del_p.I304fs|SPTB_uc001xhu.3_Frame_Shift_Del_p.I304fs	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 1, mRNA.	304					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTACTTTTCAATCATCTTCT	0.498											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	89	---	---	---	---						-	65266617	A	-	65266617	7	5	310	1	0	1	0	1	0	0	0	0	15117	126	5	0	6255	0	SPTB	14	65266617	Frame_Shift_Del	DEL	A	TCGA-ET-A39J-01A-11D-A19J-08		65266617	42082923	8	5363											
EFCAB7	84455	broad.mit.edu	37	chr1	63991290	63991290	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactttctccagtcagaaatCaacaccttcagagagtcctc	5	13	4	2			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr1:63991290C>A	uc001dbf.3	+	1	341	c.47C>A	c.(46-48)tCa>tAa	p.S16*	ITGB3BP_uc001dbc.2_5'Flank|ITGB3BP_uc001dbb.2_5'Flank|ITGB3BP_uc001dba.2_5'Flank|ITGB3BP_uc009wak.1_5'Flank	NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	16							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGTCAGAAATCAACACCTTCA	0.363													10	89					0	0	1	0	0	A	63991290	C	A	63991290	4	1	311	1	0	0	0	0	0	1	0	0	4940	838	29	4	49	4	EFCAB7	1	63991290	Nonsense_Mutation	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		63991290	185259331	1	5364											
OSTC	58505	broad.mit.edu	37	chr4	109578625	109578625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaatggacaatatattAtggaaggacttgcatccagc	10	6	0	0			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr4:109578625A>G	uc003hzb.1	+	2	324	c.253A>G	c.(253-255)Atg>Gtg	p.M85V		NM_021227	NP_067050	Q9NRP0	OSTC_HUMAN	Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA.	85						integral to membrane|oligosaccharyltransferase complex				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACAATATATTATGGAAGGACT	0.338													6	57					0	0	1	0	0	G	109578625	A	G	109578625	3	3	311	1	0	0	0	0	1	0	0	0	11296	449	16	3	263	3	OSTC	4	109578625	Missense_Mutation	SNP	A	TCGA-ET-A39K-01A-11D-A19J-08		109578625	81575651	2	5365											
AHR	196	broad.mit.edu	37	chr7	17370506	17370506	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggataattcatctggttTtctggtaaggtacaaaattt	9	5	3	0			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr7:17370506T>A	uc011jxz.1	+	5	1314	c.701T>A	c.(700-702)tTt>tAt	p.F234Y		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	234					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TCATCTGGTTTTCTGGTAAGG	0.353													13	17					0	0	1	0	0	A	17370506	T	A	17370506	3	1	311	1	0	0	0	0	1	0	0	0	416	1841	64	5	723	5	AHR	7	17370506	Missense_Mutation	SNP	T	TCGA-ET-A39K-01A-11D-A19J-08		17370506	141768157	3	5366											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	32					0	0	1	0	0	T	140453136	A	T	140453136	3	4	311	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39K-01A-11D-A19J-08	123082630	140453136	18685527	4	5367											
IFFO1	25900	broad.mit.edu	37	chr12	6664490	6664490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagagagcgcggatctcggGcgtgatggtgtcgatctgga	18	7	2	2			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr12:6664490G>T	uc010sfe.2	-	0	760	c.706C>A	c.(706-708)Ccc>Acc	p.P236T	IFFO1_uc001qpc.2_Missense_Mutation_p.P236T|IFFO1_uc001qpf.2_Missense_Mutation_p.P236T|IFFO1_uc001qpe.2_Non-coding_Transcript	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	236						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGGATCTCGGGCGTGATGGTG	0.662													6	116					0	0	1	0	0	T	6664490	G	T	6664490	3	4	311	1	0	0	0	0	1	0	0	0	7510	1203	42	4	1025	4	IFFO1	12	6664490	Missense_Mutation	SNP	G	TCGA-ET-A39K-01A-11D-A19J-08		6664490	127187405	5	5368											
FLOT2	2319	broad.mit.edu	37	chr17	27208390	27208390	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgccaagaggacctgcttCaccctgggggagcccaggcc	14	14	1	1			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr17:27208390C>T	uc002hdc.3	-	8	1041	c.918G>A	c.(916-918)gtG>gtA	p.V306V		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	306					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GGACCTGCTTCACCCTGGGGG	0.627													8	79					0	0	1	0	0	T	27208390	C	T	27208390	2	4	311	1	0	0	0	0	0	0	0	1	5937	813	29	2		2	FLOT2	17	27208390	Silent	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		27208390	53986820	6	5369											
ARFGEF2	10564	broad.mit.edu	37	chr20	47626931	47626931	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggccttccagaccacttgCcacattgtcagtaagtggct	9	13	1	1			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr20:47626931C>G	uc002xtx.4	+	26	3899	c.3747C>G	c.(3745-3747)tgC>tgG	p.C1249W	ARFGEF2_uc010zyf.2_Missense_Mutation_p.C542W	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1249					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGACCACTTGCCACATTGTCA	0.507													26	45					0	0	1	0	0	G	47626931	C	G	47626931	3	3	311	1	0	0	0	0	1	0	0	0	853	747	26	4	3853	4	ARFGEF2	20	47626931	Missense_Mutation	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		47626931	15398589	7	5370											
FAM47A	158724	broad.mit.edu	37	chrX	34148211	34148211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccataaagatcgtcaagaaCgtcaggttcatcaggctttt	8	9	4	2			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chrX:34148211C>T	uc004ddg.3	-	0	2237	c.2185G>A	c.(2185-2187)Gtt>Att	p.V729I		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	729								p.D728N(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCGTCAAGAACGTCAGGTTCA	0.438													10	171					0	0	1	0	0	T	34148211	C	T	34148211	3	4	311	1	0	0	0	0	1	0	0	0	5569	536	19	1	194	1	FAM47A	23	34148211	Missense_Mutation	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		34148211	121122349	8	5371											
ZC3H11A	9877	broad.mit.edu	37	chr1	203816376	203816376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattcttcttgaaagagcCagtcagaaacgtggagaatt	10	6	3	4			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr1:203816376C>T	uc001hac.3	+	14	1723	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	ZC3H11A_uc001had.3_Silent_p.A369A|ZC3H11A_uc001hae.3_Silent_p.A369A|ZC3H11A_uc001haf.3_Silent_p.A369A|ZC3H11A_uc010pqm.2_Silent_p.A315A|ZC3H11A_uc001hag.1_Silent_p.A369A	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	369							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGAAAGAGCCAGTCAGAAAC	0.373													6	55					0	0	1	0	0	T	203816376	C	T	203816376	2	4	312	1	0	0	0	0	0	0	0	1	17557	581	21	2		2	ZC3H11A	1	203816376	Silent	SNP	C	TCGA-ET-A39L-01A-12D-A19J-08		203816376	45434245	1	5372											
ARID1B	57492	broad.mit.edu	37	chr6	157100302	157100302	+	Frame_Shift_Del	DEL	G	G	-													ggccagaaccagcacccgtcGggggccaccccgaccctcaa							TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr6:157100302delG	uc003qqn.3	+	0	1239	c.1239delG	c.(1237-1239)tcgfs	p.S413fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.S413fs|ARID1B_uc003qqp.3_Frame_Shift_Del_p.S413fs	NM_020732	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.	413	Ala-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCACCCGTCGGGGGCCACCC	0.771													2	4	---	---	---	---						-	157100302	G	-	157100302	7	5	312	1	0	1	0	1	0	0	0	0	914	1103	39	0	1241	0	ARID1B	6	157100302	Frame_Shift_Del	DEL	G	TCGA-ET-A39L-01A-12D-A19J-08		157100302	14014765	2	5373											
NPAT	4863	broad.mit.edu	37	chr11	108032299	108032299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttctacatcgctgcAtaattcattctccttattag	4	11	4	0			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr11:108032299A>G	uc001pjz.4	-	16	3616	c.3514T>C	c.(3514-3516)Tgc>Cgc	p.C1172R	NPAT_uc010rvv.2_Missense_Mutation_p.C228R	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	1172					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACATCGCTGCATAATTCATTC	0.363													18	160					0	0	1	0	0	G	108032299	A	G	108032299	3	3	312	1	0	0	0	0	1	0	0	0	10566	217	8	3	777	3	NPAT	11	108032299	Missense_Mutation	SNP	A	TCGA-ET-A39L-01A-12D-A19J-08		108032299	26974217	3	5374											
BAGE	574	broad.mit.edu	37	chr21	11098733	11098733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcttactgctccggccGccatcttactgctccagccc	7	19	2	0			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr21:11098733G>A	uc002yiu.1	-	0	205	c.5C>T	c.(4-6)gCg>gTg	p.A2V	BAGE_uc002yit.1_5'UTR|BAGE_uc002yiv.1_Missense_Mutation_p.A2V|BAGE_uc002yix.2_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.	2						extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tgctccggccgccatcttact	0.632													8	82					0	0	1	0	0	A	11098733	G	A	11098733	3	1	312	1	0	0	0	0	1	0	0	0	1291	1087	38	1	121	1	BAGE	21	11098733	Missense_Mutation	SNP	G	TCGA-ET-A39L-01A-12D-A19J-08		11098733	37031162	4	5375											
MEGF6	1953	broad.mit.edu	37	chr1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcgtagcagccgcactcgTacccgccagggttgttggtg	15	13	0	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:3427403T>C	uc001akl.3	-	9	1405	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_uc001akk.3_Missense_Mutation_p.Y288C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	393	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687													4	100					0	0	1	0	0	C	3427403	T	C	3427403	3	2	313	1	0	0	0	0	1	0	0	0	9462	1638	57	3	3559	3	MEGF6	1	3427403	Missense_Mutation	SNP	T	TCGA-ET-A39M-01A-11D-A19J-08		3427403	245823218	1	5376											
TMCO4	255104	broad.mit.edu	37	chr1	20009578	20009578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcttgcaggcacaatcGgggcagcccagtgggttggg	18	9	1	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:20009578G>A	uc001bcn.3	-	15	2102	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	620						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGGCACAATCGGGGCAGCCCA	0.652													52	167					0	0	1	0	0	A	20009578	G	A	20009578	2	1	313	1	0	0	0	0	0	0	0	1	15995	1103	39	1		1	TMCO4	1	20009578	Silent	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	16582175	20009578	229241043	2	5377											
MYBPHL	343263	broad.mit.edu	37	chr1	109839501	109839501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaaggcataggagttgcCgatgatgaggtcagagacga	16	6	1	3	rs140827712		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:109839501C>T	uc001dxk.1	-	4	684	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	MYBPHL_uc010ovh.1_Missense_Mutation_p.G189S|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	212	Fibronectin type-III.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TAGGAGTTGCCGATGATGAGG	0.567													6	134					0	0	1	0	0	T	109839501	C	T	109839501	3	4	313	1	0	0	0	0	1	0	0	0	10015	652	23	1	446	1	MYBPHL	1	109839501	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	89829923	109839501	139411120	3	5378											
OBSCN	84033	broad.mit.edu	37	chr1	228437749	228437749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattgccacgctgagctgcGaggtggcccaggcccagaca	13	15	0	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:228437749G>A	uc009xez.1	+	13	4161	c.4117G>A	c.(4117-4119)Gag>Aag	p.E1373K	OBSCN_uc001hsn.3_Missense_Mutation_p.E1373K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1373	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGAGCTGCGAGGTGGCCCA	0.637													6	193					0	0	1	0	0	A	228437749	G	A	228437749	3	1	313	1	0	0	0	0	1	0	0	0	10812	1059	37	1	4167	1	OBSCN	1	228437749	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	118598248	228437749	20812872	4	5379											
COLEC11	78989	broad.mit.edu	37	chr2	3691640	3691640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatggtggcctcgggcGgctggaacgacgtggcctgc	19	10	0	1			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr2:3691640G>A	uc002qya.3	+	6	896	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	COLEC11_uc002qxz.3_Missense_Mutation_p.G247S|COLEC11_uc002qyb.3_Missense_Mutation_p.G226S|COLEC11_uc002qyc.3_Missense_Mutation_p.G226S|COLEC11_uc010ewo.3_Missense_Mutation_p.G202S|COLEC11_uc010ewp.3_Missense_Mutation_p.G224S|COLEC11_uc010ewq.3_Missense_Mutation_p.G200S|COLEC11_uc010ewr.3_Missense_Mutation_p.G200S|COLEC11_uc010ews.3_Missense_Mutation_p.G176S	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	250	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GGCCTCGGGCGGCTGGAACGA	0.622													5	111					0	0	1	0	0	A	3691640	G	A	3691640	3	1	313	1	0	0	0	0	1	0	0	0	3711	1116	39	1	853	1	COLEC11	2	3691640	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08		3691640	239507733	5	5380											
FGD5	152273	broad.mit.edu	37	chr3	14861538	14861538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatgcacaggatgagtcCgccgaggagagctgccagat	14	11	0	3			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:14861538C>T	uc003bzc.3	+	0	1070	c.960C>T	c.(958-960)tcC>tcT	p.S320S	FGD5_uc011avk.2_Silent_p.S320S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	320	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.S79S(1)|p.S320S(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGATGAGTCCGCCGAGGAGA	0.552													15	166					0	0	1	0	0	T	14861538	C	T	14861538	2	4	313	1	0	0	0	0	0	0	0	1	5836	639	23	1		1	FGD5	3	14861538	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		14861538	183160892	6	5381											
BBX	56987	broad.mit.edu	37	chr3	107492013	107492013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagtcttcggaatctgAcattgagagcgtcatatata	11	7	3	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:107492013A>G	uc010hpr.3	+	10	1772	c.1445A>G	c.(1444-1446)gAc>gGc	p.D482G	BBX_uc003dwk.4_Missense_Mutation_p.D482G|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.D503G|BBX_uc003dwm.4_Missense_Mutation_p.D482G|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	482	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TCGGAATCTGACATTGAGAGC	0.433													6	234					0	0	1	0	0	G	107492013	A	G	107492013	3	3	313	1	0	0	0	0	1	0	0	0	1343	275	10	3	1475	3	BBX	3	107492013	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08	92630475	107492013	90530417	7	5382											
PDS5A	23244	broad.mit.edu	37	chr4	39918684	39918684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttagtttgaattcaAgctgtggcatgacggataat	9	6	1	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr4:39918684A>G	uc003guv.4	-	7	1400	c.860T>C	c.(859-861)cTt>cCt	p.L287P	PDS5A_uc003guw.4_Missense_Mutation_p.L287P	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	287					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTTGAATTCAAGCTGTGGCAT	0.313													3	24					0	0	1	0	0	G	39918684	A	G	39918684	3	3	313	1	0	0	0	0	1	0	0	0	11691	72	3	3	3290	3	PDS5A	4	39918684	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08		39918684	151235592	8	5383											
PCDHB9	56127	broad.mit.edu	37	chr5	140568475	140568475	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggccctgcaggctttcgaCttccgcgtgggcgcctcaga	14	14	1	1	rs17844529		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr5:140568475C>G	uc003liw.1	+	1	1581	c.1581C>G	c.(1579-1581)gaC>gaG	p.D527E		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	528	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCTTTCGACTTCCGCGTGG	0.672													11	292					0	0	1	0	0	G	140568475	C	G	140568475	3	3	313	1	0	0	0	0	1	0	0	0	11549	565	20	4	1585	4	PCDHB9	5	140568475	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		140568475	40346785	9	5384											
TCTE1	202500	broad.mit.edu	37	chr6	44250215	44250215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtgacaagtccagctcctCgaggactgggtggtccagaa	13	10	0	2	rs146833594	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr6:44250215C>T	uc003oxi.2	-	3	1084	c.928G>A	c.(928-930)Gag>Aag	p.E310K	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	310										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTCCTCGAGGACTGGG	0.572													7	168					0	0	1	0	0	T	44250215	C	T	44250215	3	4	313	1	0	0	0	0	1	0	0	0	15714	893	31	1	585	1	TCTE1	6	44250215	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		44250215	126864852	10	5385											
TRIM56	81844	broad.mit.edu	37	chr7	100732226	100732226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgactacaagggcaccgtgCcggtccctgagggctgctcc	14	15	0	1	rs111572673		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:100732226C>T	uc003uxq.3	+	2	1864	c.1633C>T	c.(1633-1635)Ccg>Tcg	p.P545S	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.P545S	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	545					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGCACCGTGCCGGTCCCTGA	0.672													6	174					0	0	1	0	0	T	100732226	C	T	100732226	3	4	313	1	0	0	0	0	1	0	0	0	16527	739	26	2	1635	2	TRIM56	7	100732226	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		100732226	58406437	11	5386											
LRWD1	222229	broad.mit.edu	37	chr7	102110079	102110079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgcccaaccaggactaCgaattccaggccaggtgatg	14	11	0	1	rs142392925	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:102110079C>T	uc003uzn.3	+	9	1425	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	MIR4467_uc022ajg.1_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	429					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						ACCAGGACTACGAATTCCAGG	0.632													7	144					0	0	1	0	0	T	102110079	C	T	102110079	2	4	313	1	0	0	0	0	0	0	0	1	9047	547	19	1		1	LRWD1	7	102110079	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	1377853	102110079	57028584	12	5387											
LAMB4	22798	broad.mit.edu	37	chr7	107752270	107752270	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcataccattttcagattgcCaccatttcttttctctgtct	3	12	5	1			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:107752270C>T	uc010ljo.1	-	3	398	c.314G>A	c.(313-315)tGg>tAg	p.W105*	LAMB4_uc003vey.2_Nonsense_Mutation_p.W105*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	105	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCAGATTGCCACCATTTCTT	0.348													12	219					0	0	1	0	0	T	107752270	C	T	107752270	4	4	313	1	0	0	0	0	0	1	0	0	8613	595	21	2	5095	2	LAMB4	7	107752270	Nonsense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	5642191	107752270	51386393	13	5388											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				51	174					0	0	1	0	0	T	140453136	A	T	140453136	3	4	313	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08	32700866	140453136	18685527	14	5389											
ZNF212	7988	broad.mit.edu	37	chr7	148947484	148947484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagatggccgtggagttcGggaaccagctggagggcaag	18	7	0	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:148947484G>A	uc003wfp.3	+	1	387	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CGTGGAGTTCGGGAACCAGCT	0.652													8	236					0	0	1	0	0	A	148947484	G	A	148947484	3	1	313	1	0	0	0	0	1	0	0	0	17765	1116	39	1	265	1	ZNF212	7	148947484	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	8494348	148947484	10191179	15	5390											
EEF1D	1936	broad.mit.edu	37	chr8	144671277	144671277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtggtggcggcactcGgcgctgtcgtaggcaggctt	18	11	0	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr8:144671277G>A	uc003yyq.2	-	0	1354	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	EEF1D_uc003yyp.2_Silent_p.A325A|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.A325A|EEF1D_uc003yyr.3_Silent_p.A325A|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGCGGCACTCGGCGCTGTCGT	0.692													3	28					0	0	1	0	0	A	144671277	G	A	144671277	2	1	313	1	0	0	0	0	0	0	0	1	4926	1103	39	1		1	EEF1D	8	144671277	Silent	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08		144671277	1692745	16	5391											
C9orf50	375759	broad.mit.edu	37	chr9	132375757	132375757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagctggccagggtctcctCcttggccccagggtacaggg	16	13	1	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr9:132375757C>T	uc004byc.4	-	4	1202	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	C9orf50_uc022boo.1_Missense_Mutation_p.E333K	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.	334										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AGGGTCTCCTCCTTGGCCCCA	0.662													8	100					0	0	1	0	0	T	132375757	C	T	132375757	3	4	313	1	0	0	0	0	1	0	0	0	2487	864	30	2	307	2	C9orf50	9	132375757	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		132375757	8837674	17	5392											
DAGLA	747	broad.mit.edu	37	chr11	61511242	61511242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggcttccgcagcatcCggggctcccccagcctccac	9	21	1	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr11:61511242C>T	uc001nsa.3	+	19	2526	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	804					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCGCAGCATCCGGGGCTCCCC	0.662													14	286					0	0	1	0	0	T	61511242	C	T	61511242	3	4	313	1	0	0	0	0	1	0	0	0	4226	643	23	1	2484	1	DAGLA	11	61511242	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		61511242	73495274	18	5393											
P2RY2	5029	broad.mit.edu	37	chr11	72945651	72945651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggggccgggcccgctaCgctcgccgggtggccggggc	20	16	0	0	rs147817701	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr11:72945651C>T	uc001otk.3	+	2	914	c.447C>T	c.(445-447)taC>taT	p.Y149Y	P2RY2_uc001otj.3_Silent_p.Y149Y|P2RY2_uc001otl.3_Silent_p.Y149Y|P2RY2_uc021qna.1_Silent_p.Y149Y	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	149					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGGCCCGCTACGCTCGCCGGG	0.697													9	168					0	0	1	0	0	T	72945651	C	T	72945651	2	4	313	1	0	0	0	0	0	0	0	1	11352	547	19	1		1	P2RY2	11	72945651	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	11434409	72945651	62060865	19	5394											
PCK2	5106	broad.mit.edu	37	chr14	24568395	24568395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgctttgccctacgcAtcgcctctcggctggcccgg	12	15	1	1	rs146890792	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr14:24568395A>G	uc001wlt.3	+	4	934	c.802A>G	c.(802-804)Atc>Gtc	p.I268V	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.I268V|PCK2_uc010tnw.2_Missense_Mutation_p.I134V|PCK2_uc010ald.2_Missense_Mutation_p.I120V|PCK2_uc010ale.2_Intron|PCK2_uc010tnx.2_Missense_Mutation_p.I134V|PCK2_uc001wlu.4_Missense_Mutation_p.I134V	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	268					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGCCCTACGCATCGCCTCTCG	0.662													5	91					0	0	1	0	0	G	24568395	A	G	24568395	3	3	313	1	0	0	0	0	1	0	0	0	11582	217	8	3	820	3	PCK2	14	24568395	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08		24568395	82781145	20	5395											
KREMEN2	79412	broad.mit.edu	37	chr16	3016732	3016732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgccaccgactgtgaCcagatctgtttcggccaccc	9	19	1	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr16:3016732C>T	uc002csg.3	+	4	881	c.576C>T	c.(574-576)gaC>gaT	p.D192D	KREMEN2_uc010bsw.2_Silent_p.D192D|KREMEN2_uc002csi.3_Silent_p.D192D|KREMEN2_uc010uwl.2_Intron|KREMEN2_uc002csh.3_Silent_p.D192D|KREMEN2_uc010bsx.3_Intron|PAQR4_uc002csj.4_5'Flank|PAQR4_uc002csk.4_5'Flank|PAQR4_uc002csl.4_5'Flank	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript variant 4, mRNA.	192	WSC.			Missing (in Ref. 2; BAC11365).	Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCGACTGTGACCAGATCTGTT	0.706													5	60					0	0	1	0	0	T	3016732	C	T	3016732	2	4	313	1	0	0	0	0	0	0	0	1	8443	506	18	2		2	KREMEN2	16	3016732	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		3016732	87338021	21	5396											
MYBBP1A	10514	broad.mit.edu	37	chr17	4453510	4453510	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccgccagaaagtaggcgTgacagggaggccttggttgg	17	9	0	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr17:4453510T>G	uc002fxz.4	-	8	1224	c.1162A>C	c.(1162-1164)Acg>Ccg	p.T388P	MYBBP1A_uc002fyb.4_Missense_Mutation_p.T388P	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	388	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AAAGTAGGCGTGACAGGGAGG	0.642													10	271					0	0	1	0	0	G	4453510	T	G	4453510	3	3	313	1	0	0	0	0	1	0	0	0	10008	1696	59	5	2936	5	MYBBP1A	17	4453510	Missense_Mutation	SNP	T	TCGA-ET-A39M-01A-11D-A19J-08		4453510	76741700	22	5397											
EVPL	2125	broad.mit.edu	37	chr17	74005040	74005040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccctcctgctcctccaCgccggcccgcagctgctgca	10	21	0	0	rs140832012		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr17:74005040C>T	uc010wss.1	-	21	4540	c.4312G>A	c.(4312-4314)Gtg>Atg	p.V1438M	EVPL_uc002jqi.2_Missense_Mutation_p.V1416M|EVPL_uc010wst.1_Missense_Mutation_p.V886M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1416	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCTCCTCCACGCCGGCCCGC	0.692													6	166					0	0	1	0	0	T	74005040	C	T	74005040	3	4	313	1	0	0	0	0	1	0	0	0	5292	536	19	1	1859	1	EVPL	17	74005040	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	69551530	74005040	7190170	23	5398											
IL17RA	23765	broad.mit.edu	37	chr22	17583105	17583105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcttcaccctgtggaaCgaatctacccattaccagat	8	12	2	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:17583105C>T	uc002zly.3	+	6	806	c.675C>T	c.(673-675)aaC>aaT	p.N225N		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	225					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCTGTGGAACGAATCTACCC	0.572													7	159					0	0	1	0	0	T	17583105	C	T	17583105	2	4	313	1	0	0	0	0	0	0	0	1	7639	535	19	1		1	IL17RA	22	17583105	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		17583105	33721461	24	5399											
MMP11	4320	broad.mit.edu	37	chr22	24123183	24123183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcccagatgactgcaggGgcgttcaacacctatatggc	11	12	2	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:24123183G>A	uc002zxx.3	+	4	776	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	252					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				TGACTGCAGGGGCGTTCAACA	0.622													5	98					0	0	1	0	0	A	24123183	G	A	24123183	3	1	313	1	0	0	0	0	1	0	0	0	9650	1232	43	2	772	2	MMP11	22	24123183	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	6540078	24123183	27181383	25	5400											
PANX2	56666	broad.mit.edu	37	chr22	50617591	50617591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgggaggaggaggacgGgggcccccgcctgccgcagg	21	14	0	0			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:50617591G>A	uc003bjn.4	+	2	1919	c.1919G>A	c.(1918-1920)gGg>gAg	p.G640E	PANX2_uc003bjp.4_Intron|PANX2_uc003bjo.4_Intron	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	640					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGGAGGACGGGGGCCCCCGC	0.682													3	35					0	0	1	0	0	A	50617591	G	A	50617591	3	1	313	1	0	0	0	0	1	0	0	0	11421	1232	43	2	1929	2	PANX2	22	50617591	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	26494408	50617591	686975	26	5401											
PNMA5	114824	broad.mit.edu	37	chrX	152159280	152159280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctaagagatgtttcagaCgaatcatgtctgtgctgcgc	12	8	3	2			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chrX:152159280C>T	uc010ntx.3	-	1	1288	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_uc010ntw.3_Missense_Mutation_p.R288H|PNMA5_uc004fgy.4_Missense_Mutation_p.R288H|PNMA5_uc022chm.1_Missense_Mutation_p.R288H|PNMA5_uc022chn.1_Missense_Mutation_p.R288H	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	288					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562													44	50					0	0	1	0	0	T	152159280	C	T	152159280	3	4	313	1	0	0	0	0	1	0	0	0	12156	536	19	1	487	1	PNMA5	23	152159280	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		152159280	3111280	27	5402											
INO80D	54891	broad.mit.edu	37	chr2	206869669	206869669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatggtcactgtagggagacGgcacatgctcactatcataa	10	9	3	1			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr2:206869669G>T	uc002vaz.4	-	10	2912	c.2507C>A	c.(2506-2508)cCg>cAg	p.P836Q		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	836					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTAGGGAGACGGCACATGCTC	0.507													4	127					0	0	1	0	0	T	206869669	G	T	206869669	3	4	314	1	0	0	0	0	1	0	0	0	7749	1116	39	4	580	4	INO80D	2	206869669	Missense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08		206869669	36329704	1	5403											
ULK4	54986	broad.mit.edu	37	chr3	41723024	41723024	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtaagacatctcgaatgaGagccagaagattgctgtcag	11	7	2	4			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr3:41723024G>A	uc003ckv.4	-	28	3154	c.2953C>T	c.(2953-2955)Ctc>Ttc	p.L985F		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	985							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTCGAATGAGAGCCAGAAGA	0.473													3	45					0	0	1	0	0	A	41723024	G	A	41723024	3	1	314	1	0	0	0	0	1	0	0	0	16975	942	33	2	910	2	ULK4	3	41723024	Missense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08		41723024	156299406	2	5404											
ARAP2	116984	broad.mit.edu	37	chr4	36069767	36069767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactccgatgttttcggggtCgatttcgaagtttatcgtcc	10	9	0	0	rs149183264		TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr4:36069767C>T	uc003gsq.2	-	32	5215	c.4877G>A	c.(4876-4878)cGa>cAa	p.R1626Q	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1626					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCGGGGTCGATTTCGAAG	0.502													5	100					0	0	1	0	0	T	36069767	C	T	36069767	3	4	314	1	0	0	0	0	1	0	0	0	839	884	31	1	241	1	ARAP2	4	36069767	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		36069767	155084509	3	5405											
SYNPO2	171024	broad.mit.edu	37	chr4	119944588	119944588	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttactccactcagattCgaaatcagagcaaagcctct	5	11	3	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr4:119944588C>T	uc010inb.3	+	1	305	c.109C>T	c.(109-111)Cga>Tga	p.R37*	SYNPO2_uc010ina.3_Nonsense_Mutation_p.R37*|SYNPO2_uc003icm.4_Nonsense_Mutation_p.R37*|SYNPO2_uc011cgh.2_Nonsense_Mutation_p.R37*|SYNPO2_uc010inc.3_5'UTR	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	37	PDZ.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CACTCAGATTCGAAATCAGAG	0.428													10	15					0	0	1	0	0	T	119944588	C	T	119944588	4	4	314	1	0	0	0	0	0	1	0	0	15454	876	31	1	115	1	SYNPO2	4	119944588	Nonsense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08	83874821	119944588	71209688	4	5406											
MAP3K1	4214	broad.mit.edu	37	chr5	56180602	56180602	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacatcattaggatgttgGgagccacgtgtgagaagagc	13	7	1	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr5:56180602G>T	uc003jqw.4	+	15	4432	c.3931G>T	c.(3931-3933)Gga>Tga	p.G1311*		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1311	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TAGGATGTTGGGAGCCACGTG	0.363													3	49					0	0	1	0	0	T	56180602	G	T	56180602	4	4	314	1	0	0	0	0	0	1	0	0	9243	1233	43	4	3993	4	MAP3K1	5	56180602	Nonsense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08		56180602	124734658	5	5407											
PSAT1	29968	broad.mit.edu	37	chr9	80919787	80919787	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggagcttggtcagctAaggccgcagaagaagccaag	14	9	1	3			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr9:80919787A>C	uc004ala.3	+	3	396	c.328A>C	c.(328-330)Aag>Cag	p.K110Q	PSAT1_uc004alb.3_Missense_Mutation_p.K110Q	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	110					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTGGTCAGCTAAGGCCGCAGA	0.507													4	50					0	0	1	0	0	C	80919787	A	C	80919787	3	2	314	1	0	0	0	0	1	0	0	0	12644	363	13	5	342	5	PSAT1	9	80919787	Missense_Mutation	SNP	A	TCGA-ET-A39N-01A-11D-A19J-08		80919787	60293644	6	5408											
UBQLN3	50613	broad.mit.edu	37	chr11	5530553	5530553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggccatctcgcactccaCactgtgccagtgagtcagga	11	13	2	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr11:5530553C>T	uc001may.1	-	1	322	c.236G>A	c.(235-237)tGt>tAt	p.C79Y	HBG1_uc001mak.1_Intron|UBQLN3_uc021qcw.1_Missense_Mutation_p.C79Y	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	79	Ubiquitin-like.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGCACTCCACACTGTGCCAG	0.562													50	25					0	0	1	0	0	T	5530553	C	T	5530553	3	4	314	1	0	0	0	0	1	0	0	0	16895	478	17	2	1735	2	UBQLN3	11	5530553	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		5530553	129475963	7	5409											
OR5D18	219438	broad.mit.edu	37	chr11	55587399	55587399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accatttcatttttaggatgCgtagtacaattctttttctt	5	7	3	0	rs147156620	by1000genomes	TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr11:55587399C>G	uc010rin.2	+	0	294	c.294C>G	c.(292-294)tgC>tgG	p.C98W		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTTAGGATGCGTAGTACAAT	0.433													39	156					0	0	1	0	0	G	55587399	C	G	55587399	3	3	314	1	0	0	0	0	1	0	0	0	11157	776	27	4	296	4	OR5D18	11	55587399	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08	50056846	55587399	79419117	8	5410											
LETMD1	25875	broad.mit.edu	37	chr12	51442144	51442144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctcgctgtgaagatggCgctctccagggtgtgctggg	15	10	2	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr12:51442144C>T	uc009zlw.3	+	0	63	c.5C>T	c.(4-6)gCg>gTg	p.A2V	LETMD1_uc010smz.2_Missense_Mutation_p.A2V|LETMD1_uc010sna.2_Missense_Mutation_p.A2V|LETMD1_uc001rxm.3_Missense_Mutation_p.A2V|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_5'UTR|LETMD1_uc001rxt.3_5'Flank	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	2	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTGAAGATGGCGCTCTCCAGG	0.592											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	87	59					0	0	1	0	0	T	51442144	C	T	51442144	3	4	314	1	0	0	0	0	1	0	0	0	8736	768	27	1	7	1	LETMD1	12	51442144	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		51442144	82409751	9	5411											
CSPG4	1464	broad.mit.edu	37	chr15	75969141	75969141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctgctcccgttggccaCgaaggccagccgccctgaat	11	17	0	1			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr15:75969141C>T	uc002baw.3	-	9	5812	c.5719G>A	c.(5719-5721)Gtg>Atg	p.V1907M		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1907	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.F1906F(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGTTGGCCACGAAGGCCAGC	0.672													4	11					0	0	1	0	0	T	75969141	C	T	75969141	3	4	314	1	0	0	0	0	1	0	0	0	3960	536	19	1	1253	1	CSPG4	15	75969141	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		75969141	26562251	10	5412											
AXIN1	8312	broad.mit.edu	37	chr16	341240	341240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtaccacgtgcagcacCggcgcgcacgctggcctgac	14	16	0	1			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr16:341240C>T	uc002cgp.2	-	8	2633	c.2244G>A	c.(2242-2244)ccG>ccA	p.P748P	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Intron	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	748	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGTGCAGCACCGGCGCGCACG	0.692													3	7					0	0	1	0	0	T	341240	C	T	341240	2	4	314	1	0	0	0	0	0	0	0	1	1236	639	23	1		1	AXIN1	16	341240	Silent	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		341240	90013513	11	5413											
KARS	3735	broad.mit.edu	37	chr16	75662486	75662486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgatgttgttggagtccGtgagaaacatggcgactcga	13	8	0	2			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr16:75662486G>A	uc002fer.3	-	13	1904	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M	KARS_uc002feq.3_Missense_Mutation_p.T559M	NM_001130089	NP_001123561	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 1, mRNA.	559					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GTTGGAGTCCGTGAGAAACAT	0.552													3	53					0	0	1	0	0	A	75662486	G	A	75662486	3	1	314	1	0	0	0	0	1	0	0	0	7980	1145	40	1	125	1	KARS	16	75662486	Missense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08	75321246	75662486	14692267	12	5414											
CDK11B	984	broad.mit.edu	37	chr1	1636450	1636450	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctccatcttcagccgctttaGagccacaatttcatctgtga	6	13	4	2			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:1636450G>C	uc009vks.3	-	12	1459	c.1351C>G	c.(1351-1353)Cta>Gta	p.L451V	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Missense_Mutation_p.L68V|CDK11B_uc009vkq.3_Non-coding_Transcript|CDK11B_uc009vkr.3_Missense_Mutation_p.L441V|CDK11B_uc010nys.2_Missense_Mutation_p.L441V|CDK11B_uc010nyt.1_Missense_Mutation_p.L451V	NM_024011	NP_076916	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	466	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						AGCCGCTTTAGAGCCACAATT	0.527													34	61					0	0	1	0	0	C	1636450	G	C	1636450	3	2	315	1	0	0	0	0	1	0	0	0	3127	933	33	4		4	CDK11B	1	1636450	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		1636450	247614171	1	5415											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179887369	179887369	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaaaaggggcatctgcTtataagaagtgagagagaag	13	6	1	4			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:179887369T>C	uc001gnq.3	+	9	1965	c.1747T>C	c.(1747-1749)Tta>Cta	p.L583L		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	583						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GGGCATCTGCTTATAAGAAGT	0.418													3	41					0	0	1	0	0	C	179887369	T	C	179887369	2	2	315	1	0	0	0	0	0	0	0	1	16369	1606	56	3		3	TOR1AIP1	1	179887369	Silent	SNP	T	TCGA-ET-A39O-01A-11D-A19J-08	178250919	179887369	69363252	2	5416											
MST1	4485	broad.mit.edu	37	chr3	49724384	49724384	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taccgcctacgcgtacttgcCcggctcgaaggggtgctggt	14	13	0	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:49724384C>G	uc003cxg.3	-	5	796	c.724G>C	c.(724-726)Ggc>Cgc	p.G242R	MST1_uc011bcs.1_Splice_Site_p.G242_splice|MST1_uc010hkx.2_Missense_Mutation_p.G163R|MST1_uc011bct.1_Missense_Mutation_p.G242R|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	228	Kringle 2.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGTACTTGCCCGGCTCGAAG	0.697													11	20					0	0	1	0	0	G	49724384	C	G	49724384	3	3	315	1	0	0	0	0	1	0	0	0	9890	623	22	4	1505	4	MST1	3	49724384	Missense_Mutation	SNP	C	TCGA-ET-A39O-01A-11D-A19J-08		49724384	148298046	3	5417											
LAMP3	27074	broad.mit.edu	37	chr3	182871615	182871615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgtggaggcaggtgcaGctgtgcgggtggtattgtgg	20	6	0	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:182871615G>A	uc003flh.4	-	1	838	c.614C>T	c.(613-615)gCt>gTt	p.A205V		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	205	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GGCAGGTGCAGCTGTGCGGGT	0.547													4	105					0	0	1	0	0	A	182871615	G	A	182871615	3	1	315	1	0	0	0	0	1	0	0	0	8619	971	34	2	656	2	LAMP3	3	182871615	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08	133147231	182871615	15150815	4	5418											
GALNT7	51809	broad.mit.edu	37	chr4	174169178	174169178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccgaggcggcaatggActagctcctggggaggacag	15	12	0	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr4:174169178A>G	uc003isz.4	+	1	257	c.174A>G	c.(172-174)ggA>ggG	p.G58G		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	58					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GCGGCAATGGACTAGCTCCTG	0.478													5	73					0	0	1	0	0	G	174169178	A	G	174169178	2	3	315	1	0	0	0	0	0	0	0	1	6218	262	10	3		3	GALNT7	4	174169178	Silent	SNP	A	TCGA-ET-A39O-01A-11D-A19J-08		174169178	16985098	5	5419											
PLK2	10769	broad.mit.edu	37	chr5	57751948	57751948	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttctactgcgggtgttccaGacctggcaactgtggtggta	13	9	1	1			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr5:57751948G>A	uc003jrn.3	-	9	1469	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	PLK2_uc021xyx.1_Missense_Mutation_p.S416F	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	430					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGGTGTTCCAGACCTGGCAAC	0.473													5	79					0	0	1	0	0	A	57751948	G	A	57751948	3	1	315	1	0	0	0	0	1	0	0	0	12096	942	33	2	788	2	PLK2	5	57751948	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		57751948	123163312	6	5420											
DSE	29940	broad.mit.edu	37	chr6	116758279	116758279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggccggtttggacaggCacggatggtgacaactacac	13	9	0	1			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr6:116758279C>T	uc011ebg.2	+	5	2804	c.2705C>T	c.(2704-2706)gCa>gTa	p.A902V	DSE_uc003pws.3_Missense_Mutation_p.A883V|DSE_uc003pwt.3_Missense_Mutation_p.A883V|DSE_uc003pwu.3_Missense_Mutation_p.A550V	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	883					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTGGACAGGCACGGATGGTG	0.418													37	56					0	0	1	0	0	T	116758279	C	T	116758279	3	4	315	1	0	0	0	0	1	0	0	0	4774	710	25	2	2666	2	DSE	6	116758279	Missense_Mutation	SNP	C	TCGA-ET-A39O-01A-11D-A19J-08		116758279	54356788	7	5421											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	62					0	0	1	0	0	T	140453136	A	T	140453136	3	4	315	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39O-01A-11D-A19J-08		140453136	18685527	8	5422											
SSPO	23145	broad.mit.edu	37	chr7	149494406	149494406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctctcctctgcccagccgGggcagctgctgcactggccc	11	20	2	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr7:149494406G>T	uc010lpk.3	+	45	6868	c.6868G>T	c.(6868-6870)Ggg>Tgg	p.G2290W		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2293					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGCCGGGGCAGCTGCT	0.662													3	46					0	0	1	0	0	T	149494406	G	T	149494406	3	4	315	1	0	0	0	0	1	0	0	0	15188	1232	43	4	7055	4	SSPO	7	149494406	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08	9041270	149494406	9644257	9	5423											
TBC1D2	55357	broad.mit.edu	37	chr9	100961815	100961815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaccatgcgcagctgccGcagctgtttcatgcggaagg	15	11	1	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr9:100961815G>A	uc011lvb.2	-	12	2815	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	TBC1D2_uc004ayp.3_Missense_Mutation_p.R419W|TBC1D2_uc004ayq.3_Missense_Mutation_p.R868W|TBC1D2_uc004ayr.3_Missense_Mutation_p.R661W	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	879						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.R868W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGCAGCTGCCGCAGCTGTTTC	0.637													7	151					0	0	1	0	0	A	100961815	G	A	100961815	3	1	315	1	0	0	0	0	1	0	0	0	15605	1086	38	1	155	1	TBC1D2	9	100961815	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		100961815	40251616	10	5424											
DCAF5	8816	broad.mit.edu	37	chr14	69522320	69522320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctggctgcttgtatggGctccagatctgaacagaaaa	10	10	1	3			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:69522320G>A	uc001xkp.3	-	8	1302	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	DCAF5_uc001xkq.3_Silent_p.S360S	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	361						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCTTGTATGGGCTCCAGATCT	0.473													47	74					0	0	1	0	0	A	69522320	G	A	69522320	2	1	315	1	0	0	0	0	0	0	0	1	4273	1194	42	2		2	DCAF5	14	69522320	Silent	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		69522320	37827220	11	5425											
PPP2R5C	5527	broad.mit.edu	37	chr14	102276323	102276323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggatggtggtggatgCggccaactccaatgggcctt	15	10	0	0			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:102276323C>T	uc001yko.3	+	0	184	c.44C>T	c.(43-45)gCg>gTg	p.A15V	PPP2R5C_uc001ykj.4_Intron|PPP2R5C_uc010txr.2_Intron|PPP2R5C_uc001ykk.3_Intron|PPP2R5C_uc010txt.2_Missense_Mutation_p.A5V|PPP2R5C_uc001ykn.3_Missense_Mutation_p.A15V|PPP2R5C_uc001ykp.3_Missense_Mutation_p.A15V|PPP2R5C_uc010txs.1_Missense_Mutation_p.A5V	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	15					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTGGTGGATGCGGCCAACTCC	0.498													3	50					0	0	1	0	0	T	102276323	C	T	102276323	3	4	315	1	0	0	0	0	1	0	0	0	12394	768	27	1	317	1	PPP2R5C	14	102276323	Missense_Mutation	SNP	C	TCGA-ET-A39O-01A-11D-A19J-08	32754003	102276323	5073217	12	5426											
MYBBP1A	10514	broad.mit.edu	37	chr17	4443214	4443214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttactgatggggctctgGgtggcactggggatctcctt	14	9	3	1			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr17:4443214G>A	uc002fxz.4	-	25	3545	c.3483C>T	c.(3481-3483)acC>acT	p.T1161T	MYBBP1A_uc002fyb.4_Silent_p.T1161T|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.4_Silent_p.T106T|MYBBP1A_uc010vsa.2_Silent_p.T203T	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1161	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGGGGCTCTGGGTGGCACTGG	0.572													13	133					0	0	1	0	0	A	4443214	G	A	4443214	2	1	315	1	0	0	0	0	0	0	0	1	10008	1219	43	2		2	MYBBP1A	17	4443214	Silent	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		4443214	76751996	13	5427											
ATP1A3	478	broad.mit.edu	37	chr19	42471325	42471325	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagagccatccagcagggcGaggggagcctgggaccagct	17	12	0	1			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr19:42471325G>T	uc002osh.3	-	21	3243	c.3089C>A	c.(3088-3090)tCg>tAg	p.S1030*	ATP1A3_uc010xwf.2_Intron|ATP1A3_uc010xwg.2_Intron|ATP1A3_uc002osg.3_Intron|ATP1A3_uc010xwh.2_Intron			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	0					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGCAGGGCGAGGGGAGCCT	0.667													2	8					0	0	1	0	0	T	42471325	G	T	42471325	4	4	315	1	0	0	0	0	0	1	0	0	1130	1073	37	4		4	ATP1A3	19	42471325	Nonsense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		42471325	16657658	14	5428											
SYTL4	94121	broad.mit.edu	37	chrX	99933584	99933584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactggccttgttcctcatGggaaggaggtatctggcaga	13	8	2	1	rs144944700	byFrequency	TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chrX:99933584G>A	uc004egd.4	-	17	2027	c.1671C>T	c.(1669-1671)ccC>ccT	p.P557P	SYTL4_uc004egc.3_5'UTR|SYTL4_uc010nnb.3_Silent_p.P229P|SYTL4_uc010nnc.3_Silent_p.P557P|SYTL4_uc004ege.4_Silent_p.P557P|SYTL4_uc004egf.4_Silent_p.P557P	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	557	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTTCCTCATGGGAAGGAGGT	0.493													3	56					0	0	1	0	0	A	99933584	G	A	99933584	2	1	315	1	0	0	0	0	0	0	0	1	15482	1335	47	2		2	SYTL4	23	99933584	Silent	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		99933584	55336976	15	5429											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299510	125299510	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcccgcatgagggggAtgcgcgtgatgtggcctgac	16	11	0	3			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chrX:125299510A>T	uc004euk.2	-	0	571	c.398T>A	c.(397-399)aTc>aAc	p.I133N		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	133								p.R132L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CATGAGGGGGATGCGCGTGAT	0.642													4	55					0	0	1	0	0	T	125299510	A	T	125299510	3	4	315	1	0	0	0	0	1	0	0	0	4265	333	12	5	997	5	DCAF12L2	23	125299510	Missense_Mutation	SNP	A	TCGA-ET-A39O-01A-11D-A19J-08	25365926	125299510	29971050	16	5430											
DMRTB1	63948	broad.mit.edu	37	chr1	53927304	53927304	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtcccgcagccagtacCaaggcggaggcttggtgagt	15	10	0	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:53927304C>A	uc001cvq.1	+	1	791	c.736C>A	c.(736-738)Caa>Aaa	p.Q246K		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	246	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAGCCAGTACCAAGGCGGAGG	0.662													19	20					0	0	1	0	0	A	53927304	C	A	53927304	3	1	316	1	0	0	0	0	1	0	0	0	4590	595	21	4	742	4	DMRTB1	1	53927304	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08		53927304	195323317	1	5431											
C1orf146	388649	broad.mit.edu	37	chr1	92711147	92711147	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctacagaatgataacagcTaaagcttacatcattgagca	7	8	1	3			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:92711147T>G	uc001doq.3	+	5	531	c.459T>G	c.(457-459)gcT>gcG	p.A153A	C1orf146_uc010ote.2_Silent_p.A94A	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN	Homo sapiens chromosome 1 open reading frame 146 (C1orf146), mRNA.	153										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TGATAACAGCTAAAGCTTACA	0.328													23	38					0	0	1	0	0	G	92711147	T	G	92711147	2	3	316	1	0	0	0	0	0	0	0	1	2003	1509	53	5		5	C1orf146	1	92711147	Silent	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08	38783843	92711147	156539474	2	5432											
ADAR	103	broad.mit.edu	37	chr1	154574423	154574423	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagacagatgtggagtttCtgtcttccggttccaaactc	10	10	2	2			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:154574423C>T	uc001ffh.3	-	1	937	c.695G>A	c.(694-696)aGa>aAa	p.R232K	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.R232K|ADAR_uc001ffi.3_Missense_Mutation_p.R232K|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	232					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGTGGAGTTTCTGTCTTCCGG	0.527													32	86					0	0	1	0	0	T	154574423	C	T	154574423	3	4	316	1	0	0	0	0	1	0	0	0	281	913	32	2	3041	2	ADAR	1	154574423	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08	61863276	154574423	94676198	3	5433											
EDEM3	80267	broad.mit.edu	37	chr1	184671950	184671950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattttactcttacctcgaTcttttgctttatcagagagg	7	8	3	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:184671950T>C	uc010pom.2	-	18	2645	c.2384A>G	c.(2383-2385)gAt>gGt	p.D795G	EDEM3_uc010pok.2_Missense_Mutation_p.D795G|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	795					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTACCTCGATCTTTTGCTTT	0.373													16	34					0	0	1	0	0	C	184671950	T	C	184671950	3	2	316	1	0	0	0	0	1	0	0	0	4913	1435	50	3	422	3	EDEM3	1	184671950	Missense_Mutation	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08	30097527	184671950	64578671	4	5434											
KRTCAP3	200634	broad.mit.edu	37	chr2	27666263	27666263	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccatccttcttgcttttcAggatacagccttggctctct	6	15	3	0			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr2:27666263A>C	uc002rks.3	+	5	528	c.481_splice	c.e5-2	p.D161_splice	KRTCAP3_uc010ylr.2_Splice_Site_p.D161_splice|KRTCAP3_uc021vfd.1_Splice_Site_p.D161_splice|KRTCAP3_uc002rkt.3_Splice_Site_p.D143_splice	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA.	161						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CTTGCTTTTCAGGATACAGCC	0.517													48	74					0	0	1	0	0	C	27666263	A	C	27666263	5	2	316	1	0	0	0	0	0	0	1	0	8579	202	7	5	497	5	KRTCAP3	2	27666263	Splice_Site	SNP	A	TCGA-ET-A39P-01A-21D-A19J-08		27666263	215533110	5	5435											
TTLL3	26140	broad.mit.edu	37	chr3	9876847	9876847	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcctctgccctttgaagtcgGaacaattcctagcacctgtc	8	14	1	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr3:9876847G>C	uc003btg.3	+	12	2469	c.1993G>C	c.(1993-1995)Gaa>Caa	p.E665Q	TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc003bth.4_3'UTR|TTLL3_uc011atj.2_3'UTR|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_3'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	665					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TTTGAAGTCGGAACAATTCCT	0.587													16	55					0	0	1	0	0	C	9876847	G	C	9876847	3	2	316	1	0	0	0	0	1	0	0	0	16725	1175	41	4	2039	4	TTLL3	3	9876847	Missense_Mutation	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		9876847	188145583	6	5436											
ATP2B2	491	broad.mit.edu	37	chr3	10413502	10413502	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccacacttaccagaatcttGgtggtgtaggcgctgttgat	11	9	1	2			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr3:10413502G>C	uc003bvt.3	-	11	2089	c.1650C>G	c.(1648-1650)acC>acG	p.T550T	ATP2B2_uc003bvv.3_Silent_p.T505T|ATP2B2_uc003bvw.3_Silent_p.T505T|ATP2B2_uc010hdo.3_Silent_p.T255T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	550					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGAATCTTGGTGGTGTAGG	0.532													12	31					0	0	1	0	0	C	10413502	G	C	10413502	2	2	316	1	0	0	0	0	0	0	0	1	1140	1335	47	4		4	ATP2B2	3	10413502	Silent	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08	536655	10413502	187608928	7	5437											
IL7R	3575	broad.mit.edu	37	chr5	35874644	35874644	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgttatggaaaaaaaGgtgaccttcttcaactaata	8	6	2	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr5:35874644G>T	uc003jjs.3	+	6	889	c.800_splice	c.e6+1	p.R267_splice	IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	267					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGGAAAAAAAGGTGACCTTCT	0.423			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						33	51					0	0	1	0	0	T	35874644	G	T	35874644	5	4	316	1	0	0	0	0	0	0	1	0	7705	1014	35	4	822	4	IL7R	5	35874644	Splice_Site	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		35874644	145040616	8	5438											
SLC35F1	222553	broad.mit.edu	37	chr6	118228990	118228992	+	In_Frame_Del	DEL	GCG	GCG	-													gaacctgccggccgagggcaGcggcggcggcgggagcctgt							TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr6:118228990_118228992delGCG	uc003pxx.4	+	0	302_304	c.101_103delGCG	c.(100-105)agcggc>agc	p.G38del		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	38					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCCGAGGGCAGCGGCGGCGGCGG	0.744													3	4	---	---	---	---						-	118228992	GCG	-	118228990	7	5	316	1	0	1	0	1	0	0	0	0	14588	971	34	0	103	0	SLC35F1	6	118228990	In_Frame_Del	DEL	GCG	TCGA-ET-A39P-01A-21D-A19J-08		118228990	52886077	9	5439											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	36					0	0	1	0	0	T	140453136	A	T	140453136	3	4	316	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39P-01A-21D-A19J-08		140453136	18685527	10	5440											
CSMD3	114788	broad.mit.edu	37	chr8	113358377	113358377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatctaaactgctgggatAgtttccaggaaacccaggac	10	10	1	0			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr8:113358377A>G	uc003ynu.3	-	40	6550	c.6391T>C	c.(6391-6393)Tat>Cat	p.Y2131H	CSMD3_uc003yns.3_Missense_Mutation_p.Y1333H|CSMD3_uc003ynt.3_Missense_Mutation_p.Y2091H|CSMD3_uc011lhx.2_Missense_Mutation_p.Y2027H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2131	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCTGGGATAGTTTCCAGGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			41	62					0	0	1	0	0	G	113358377	A	G	113358377	3	3	316	1	0	0	0	0	1	0	0	0	3946	420	15	3	4856	3	CSMD3	8	113358377	Missense_Mutation	SNP	A	TCGA-ET-A39P-01A-21D-A19J-08		113358377	33005645	11	5441											
ITGA8	8516	broad.mit.edu	37	chr10	15688984	15688984	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaggtagatttgccctacTtctctggggttgctctcaaa	9	10	2	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr10:15688984T>C	uc001ioc.1	-	11	1068	c.1068A>G	c.(1066-1068)gaA>gaG	p.E356E	ITGA8_uc010qcb.1_Silent_p.E341E	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	356					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTTGCCCTACTTCTCTGGGGT	0.502													8	60					0	0	1	0	0	C	15688984	T	C	15688984	2	2	316	1	0	0	0	0	0	0	0	1	7882	1606	56	3		3	ITGA8	10	15688984	Silent	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08		15688984	119845763	12	5442											
OR10A7	121364	broad.mit.edu	37	chr12	55615054	55615054	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttatggtgccaaaaatgctTgtagatctagtgtccccaag	10	8	1	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr12:55615054T>A	uc010spf.2	+	0	246	c.246T>A	c.(244-246)ctT>ctA	p.L82L		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CAAAAATGCTTGTAGATCTAG	0.413													90	123					0	0	1	0	0	A	55615054	T	A	55615054	2	1	316	1	0	0	0	0	0	0	0	1	10895	1799	63	5		5	OR10A7	12	55615054	Silent	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08		55615054	78236841	13	5443											
SLC35E3	55508	broad.mit.edu	37	chr12	69140181	69140182	+	Missense_Mutation	DNP	GC	GC	TT													gcattgctggtggaccgagtGcggggccactggcgaatcgc							TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr12:69140181_69140182GC>TT	uc001suh.3	+	0	246_247	c.24_25GC>TT	c.(22-27)gtgcgg>gtTTgg	p.R9W		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.	9						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGGACCGAGTGCGGGGCCACTG	0.634													13	12					0	0	1	0	0	TT	69140182	GC	TT	69140181	3	4	316	1	0	0	0	0	1	0	0	0	14586	1306	46	4	26	4	SLC35E3	12	69140181	Missense_Mutation	DNP	GC	TCGA-ET-A39P-01A-21D-A19J-08	13525127	69140181	64711714	14	5444											
DYNC1H1	1778	broad.mit.edu	37	chr14	102471238	102471238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgagatttttggtaaagCaacttcaattgacccaaata	7	6	1	2			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr14:102471238C>A	uc001yks.2	+	24	5353	c.5189C>A	c.(5188-5190)gCa>gAa	p.A1730E		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1730	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTGGTAAAGCAACTTCAATT	0.418													27	35					0	0	1	0	0	A	102471238	C	A	102471238	3	1	316	1	0	0	0	0	1	0	0	0	4841	710	25	4	5287	4	DYNC1H1	14	102471238	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08		102471238	4878302	15	5445											
ZNF668	79759	broad.mit.edu	37	chr16	31072858	31072858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcacaccacctgactccGggggcagccctagcagccct	9	19	1	1			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr16:31072858G>A	uc021tgt.1	-	3	1816	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	ZNF668_uc010cag.2_Missense_Mutation_p.P464L|ZNF668_uc010caf.3_Missense_Mutation_p.P464L|ZNF668_uc002eao.3_Missense_Mutation_p.P464L	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ACCTGACTCCGGGGGCAGCCC	0.697													31	65					0	0	1	0	0	A	31072858	G	A	31072858	3	1	316	1	0	0	0	0	1	0	0	0	18072	1116	39	1	472	1	ZNF668	16	31072858	Missense_Mutation	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		31072858	59281895	16	5446											
TRO	7216	broad.mit.edu	37	chrX	54955736	54955736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccacggctggctttaGtggtgtactcagcactagca	11	12	1	0			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chrX:54955736G>T	uc004dtq.3	+	11	2686	c.2579G>T	c.(2578-2580)aGt>aTt	p.S860I	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.S391I|TRO_uc004dtw.3_Missense_Mutation_p.S463I|TRO_uc004dtx.3_Missense_Mutation_p.S243I	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	860	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTGGCTTTAGTGGTGTACTC	0.562													15	24					0	0	1	0	0	T	54955736	G	T	54955736	3	4	316	1	0	0	0	0	1	0	0	0	16571	1029	36	4	2621	4	TRO	23	54955736	Missense_Mutation	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		54955736	100314824	17	5447											
FOXR2	139628	broad.mit.edu	37	chrX	55650232	55650232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgggacatgaggaatgagTtatttctgccttgtaccaca	10	8	1	2			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chrX:55650232T>A	uc004duo.3	+	0	400	c.88T>A	c.(88-90)Tta>Ata	p.L30I		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	30					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGGAATGAGTTATTTCTGCC	0.468													27	56					0	0	1	0	0	A	55650232	T	A	55650232	3	1	316	1	0	0	0	0	1	0	0	0	6032	1722	60	5	90	5	FOXR2	23	55650232	Missense_Mutation	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08	694496	55650232	99620328	18	5448											
AHDC1	27245	broad.mit.edu	37	chr1	27877329	27877331	+	In_Frame_Del	DEL	GGT	GGT	-													gggcagggggtggaggaggcGgtggtggtgggggttcggcc							TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr1:27877329_27877331delGGT	uc009vsy.3	-	5	2265_2267	c.1296_1298delACC	c.(1294-1299)ccaccg>ccg	p.432_433PP>P	AHDC1_uc009vsz.1_In_Frame_Del_p.432_433PP>P|AHDC1_uc021ojw.1_In_Frame_Del_p.432_433PP>P	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	432	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGAGGAGGCGGTGGTGGTGGGG	0.714													2	4	---	---	---	---						-	27877331	GGT	-	27877329	7	5	317	1	0	1	0	1	0	0	0	0	412	1116	39	0	3517	0	AHDC1	1	27877329	In_Frame_Del	DEL	GGT	TCGA-ET-A39R-01A-11D-A19J-08		27877329	221373292	1	5449											
IRS1	3667	broad.mit.edu	37	chr2	227663266	227663266	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagcagctctcaagggggatCgagcgtttgggggcgctcga	17	9	1	0			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr2:227663266C>A	uc002voh.4	-	0	241	c.189G>T	c.(187-189)tcG>tcT	p.S63S	IRS1_uc021vxn.1_Silent_p.S63S	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	63	Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAAGGGGGATCGAGCGTTTGG	0.637													21	148					0	0	1	0	0	A	227663266	C	A	227663266	2	1	317	1	0	0	0	0	0	0	0	1	7840	871	31	4		4	IRS1	2	227663266	Silent	SNP	C	TCGA-ET-A39R-01A-11D-A19J-08		227663266	15536107	2	5450											
ZNF777	27153	broad.mit.edu	37	chr7	149129472	149129472	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgtagggcttagggccacCgccgccgctaccagagctgg	14	14	0	1			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr7:149129472C>G	uc003wfv.3	-	5	2054	c.1891G>C	c.(1891-1893)Ggt>Cgt	p.G631R		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	631	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G630C(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTAGGGCCACCGCCGCCGCTA	0.667													32	106					0	0	1	0	0	G	149129472	C	G	149129472	3	3	317	1	0	0	0	0	1	0	0	0	18147	652	23	4	608	4	ZNF777	7	149129472	Missense_Mutation	SNP	C	TCGA-ET-A39R-01A-11D-A19J-08		149129472	10009191	3	5451											
OC90	729330	broad.mit.edu	37	chr8	133053841	133053841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccatagtcttcaaagtctCgggggcagagaccagccaca	10	12	3	1			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr8:133053841C>T	uc003ytg.2	-	2	227	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	OC90_uc011lix.1_Missense_Mutation_p.R92Q	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	92	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCAAAGTCTCGGGGGCAGAG	0.527													7	13					0	0	1	0	0	T	133053841	C	T	133053841	3	4	317	1	0	0	0	0	1	0	0	0	10814	884	31	1	1198	1	OC90	8	133053841	Missense_Mutation	SNP	C	TCGA-ET-A39R-01A-11D-A19J-08		133053841	13310181	4	5452											
COL5A3	50509	broad.mit.edu	37	chr19	10116500	10116500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaggttgacctgctgggGgagggggcggaaggggtcac	22	6	1	2			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr19:10116500G>A	uc002mmq.1	-	2	495	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	137	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTGCTGGGGGAGGGGGCGG	0.657													7	9					0	0	1	0	0	A	10116500	G	A	10116500	3	1	317	1	0	0	0	0	1	0	0	0	3698	1232	43	2	5088	2	COL5A3	19	10116500	Missense_Mutation	SNP	G	TCGA-ET-A39R-01A-11D-A19J-08		10116500	49012483	5	5453											
HAUS7	55559	broad.mit.edu	37	chrX	152734614	152734614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcattaccgggtacacaTccactctaggatctccaagc	8	13	2	0			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chrX:152734614T>C	uc004fhn.2	-	1	802	c.244A>G	c.(244-246)Atg>Gtg	p.M82V	HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.M82V|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.	82					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CGGGTACACATCCACTCTAGG	0.552													41	77					0	0	1	0	0	C	152734614	T	C	152734614	3	2	317	1	0	0	0	0	1	0	0	0	6971	1435	50	3	898	3	HAUS7	23	152734614	Missense_Mutation	SNP	T	TCGA-ET-A39R-01A-11D-A19J-08		152734614	2535946	6	5454											
MARS2	92935	broad.mit.edu	37	chr2	198571775	198571775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcctcagagaggagtcttgGagagctctatttcttgcctc	11	10	4	2			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr2:198571775G>T	uc002uuq.3	+	0	1748	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	549					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G549*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGGAGTCTTGGAGAGCTCTAT	0.532													48	148					0	0	1	0	0	T	198571775	G	T	198571775	3	4	318	1	0	0	0	0	1	0	0	0	9317	1174	41	4	1648	4	MARS2	2	198571775	Missense_Mutation	SNP	G	TCGA-ET-A39S-01A-11D-A19J-08		198571775	44627598	1	5455											
DNAH1	25981	broad.mit.edu	37	chr3	52356519	52356519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagggcccagagtgcAgcagtgctcctgcagtccaa	11	16	1	1			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr3:52356519A>G	uc011bef.2	+	1	322	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	DNAH1_uc003ddt.1_Missense_Mutation_p.S21G	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	21	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCAGAGTGCAGCAGTGCTCC	0.582													10	46					0	0	1	0	0	G	52356519	A	G	52356519	3	3	318	1	0	0	0	0	1	0	0	0	4597	188	7	3	63	3	DNAH1	3	52356519	Missense_Mutation	SNP	A	TCGA-ET-A39S-01A-11D-A19J-08		52356519	145665911	2	5456											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	318	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39S-01A-11D-A19J-08		140453136	18685527	3	5457											
GPR124	25960	broad.mit.edu	37	chr8	37690634	37690634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcacccgagcctcccgcCggtgtgaccgtgccggccgc	15	19	0	1			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr8:37690634C>T	uc003xkj.3	+	8	1590	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	GPR124_uc010lvy.3_Missense_Mutation_p.R402W	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	402					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGCCTCCCGCCGGTGTGACCG	0.667													4	57					0	0	1	0	0	T	37690634	C	T	37690634	3	4	318	1	0	0	0	0	1	0	0	0	6638	643	23	1	1217	1	GPR124	8	37690634	Missense_Mutation	SNP	C	TCGA-ET-A39S-01A-11D-A19J-08		37690634	108673388	4	5458											
SHPK	23729	broad.mit.edu	37	chr17	3518731	3518731	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggtcctgttgaagtaTgggaagtaggcgactggggc	18	5	0	1			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr17:3518731T>C	uc002fvz.1	-	5	1027	c.924A>G	c.(922-924)ccA>ccG	p.P308P		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	308					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		TGTTGAAGTATGGGAAGTAGG	0.592													20	47					0	0	1	0	0	C	3518731	T	C	3518731	2	2	318	1	0	0	0	0	0	0	0	1	14290	1451	51	3		3	SHPK	17	3518731	Silent	SNP	T	TCGA-ET-A39S-01A-11D-A19J-08		3518731	77676479	5	5459											
SALL3	27164	broad.mit.edu	37	chr18	76753025	76753025	+	Frame_Shift_Del	DEL	C	C	-													gagcgcatccacgccgcctgCcctggccccggggtccctgc							TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr18:76753025delC	uc002lmt.3	+	1	1034	c.1034delC	c.(1033-1035)gccfs	p.A345fs	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGCCGCCTGCCCTGGCCCCG	0.781													2	4	---	---	---	---						-	76753025	C	-	76753025	7	5	318	1	0	1	0	1	0	0	0	0	13812	739	26	0	1040	0	SALL3	18	76753025	Frame_Shift_Del	DEL	C	TCGA-ET-A39S-01A-11D-A19J-08		76753025	1324223	6	5460											
CD5L	922	broad.mit.edu	37	chr1	157804272	157804272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagaagggcaatcctgaaGggttgcttctcgtcctgagc	12	12	1	3			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr1:157804272G>T	uc001frk.4	-	3	786	c.643C>A	c.(643-645)Ctt>Att	p.L215I		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	215	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAATCCTGAAGGGTTGCTTCT	0.532													3	42					0	0	1	0	0	T	157804272	G	T	157804272	3	4	319	1	0	0	0	0	1	0	0	0	3027	1000	35	4	412	4	CD5L	1	157804272	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		157804272	91446349	1	5461											
ALK	238	broad.mit.edu	37	chr2	29474117	29474117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgctggccccacatgtGgtgaacagccaatgaactgt	12	13	0	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr2:29474117G>A	uc002rmy.3	-	11	3010	c.2058C>T	c.(2056-2058)acC>acT	p.T686T		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	686					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCCCACATGTGGTGAACAGCC	0.652			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	22					0	0	1	0	0	A	29474117	G	A	29474117	2	1	319	1	0	0	0	0	0	0	0	1	525	1335	47	2		2	ALK	2	29474117	Silent	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		29474117	213725256	2	5462											
TBCCD1	55171	broad.mit.edu	37	chr3	186268971	186268971	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttggagcctgctgcagGgggtacaaggctgtccagct	15	9	0	0			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr3:186268971G>C	uc003fqg.3	-	6	1771	c.1642C>G	c.(1642-1644)Cct>Gct	p.P548A	TBCCD1_uc011bry.2_Missense_Mutation_p.P548A|TBCCD1_uc003fqh.3_Missense_Mutation_p.P452A	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	548					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CCTGCTGCAGGGGGTACAAGG	0.443													33	44					0	0	1	0	0	C	186268971	G	C	186268971	3	2	319	1	0	0	0	0	1	0	0	0	15629	1232	43	4	35	4	TBCCD1	3	186268971	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		186268971	11753459	3	5463											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				34	35					0	0	1	0	0	T	140453136	A	T	140453136	3	4	319	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39T-01A-11D-A19J-08		140453136	18685527	4	5464											
RP1	6101	broad.mit.edu	37	chr8	55538950	55538950	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaaagatttttatgcaccGcaatctcaagcagaagtggc	8	11	1	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr8:55538950G>T	uc003xsd.1	+	3	2656	c.2508G>T	c.(2506-2508)ccG>ccT	p.P836P	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	836					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	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)			TTTATGCACCGCAATCTCAAG	0.328													20	35					0	0	1	0	0	T	55538950	G	T	55538950	2	4	319	1	0	0	0	0	0	0	0	1	13532	1074	38	4		4	RP1	8	55538950	Silent	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		55538950	90825072	5	5465											
ANO9	338440	broad.mit.edu	37	chr11	428731	428731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcgtaccatgagcagGgtcaggacgaggatgacggt	15	11	1	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr11:428731G>A	uc001lpi.2	-	11	1096	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	ANO9_uc001lph.2_Silent_p.T30T|ANO9_uc010qvv.1_Silent_p.T193T	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	337						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGAGCAGGGTCAGGACGA	0.657													3	34					0	0	1	0	0	A	428731	G	A	428731	2	1	319	1	0	0	0	0	0	0	0	1	704	1219	43	2		2	ANO9	11	428731	Silent	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		428731	134577785	6	5466											
HPX	3263	broad.mit.edu	37	chr11	6461365	6461365	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgattccagccctttccAgcctggccctgattttggcc	9	15	0	1			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr11:6461365A>C	uc010rai.1	-	3	427	c.366T>G	c.(364-366)gcT>gcG	p.A122A	HPX_uc001mdg.2_Intron|HPX_uc009yfc.2_Intron			P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	0	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGCCCTTTCCAGCCTGGCCCT	0.537													4	49					0	0	1	0	0	C	6461365	A	C	6461365	2	2	319	1	0	0	0	0	0	0	0	1	7346	203	7	5		5	HPX	11	6461365	Silent	SNP	A	TCGA-ET-A39T-01A-11D-A19J-08	6032634	6461365	128545151	7	5467											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195430	18195430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtggatcccggaagatGccgctgaccaggctgtacgt	13	12	1	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr11:18195430G>A	uc001mnv.1	+	0	1047	c.627G>A	c.(625-627)atG>atA	p.M209I		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCGGAAGATGCCGCTGACCA	0.562													7	67					0	0	1	0	0	A	18195430	G	A	18195430	3	1	319	1	0	0	0	0	1	0	0	0	9769	1319	46	2	629	2	MRGPRX4	11	18195430	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08	11734065	18195430	116811086	8	5468											
CAND1	55832	broad.mit.edu	37	chr12	67696298	67696298	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgtttttcacgcataccTttctcttttgaagcaaactc	5	10	2	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr12:67696298T>G	uc001stn.2	+	7	1633	c.1196T>G	c.(1195-1197)cTt>cGt	p.L399R	CAND1_uc001sto.2_Missense_Mutation_p.L77R	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	399					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CACGCATACCTTTCTCTTTTG	0.428													6	137					0	0	1	0	0	G	67696298	T	G	67696298	3	3	319	1	0	0	0	0	1	0	0	0	2615	1609	56	5	1226	5	CAND1	12	67696298	Missense_Mutation	SNP	T	TCGA-ET-A39T-01A-11D-A19J-08		67696298	66155597	9	5469											
C15orf55	256646	broad.mit.edu	37	chr15	34649616	34649616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctagctctgggagtagttcGaccctcacagcctcgtaaaa	9	13	2	0	rs138691157	byFrequency	TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr15:34649616G>A	uc010ucc.2	+	7	3789	c.3407G>A	c.(3406-3408)cGa>cAa	p.R1136Q	C15orf55_uc010ucd.2_Missense_Mutation_p.R1126Q|C15orf55_uc001zif.3_Missense_Mutation_p.R1108Q	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	1108						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGAGTAGTTCGACCCTCACAG	0.587			T	"BRD3, BRD4"	lethal midline carcinoma								5	93					0	0	1	0	0	A	34649616	G	A	34649616	3	1	319	1	0	0	0	0	1	0	0	0	1803	1058	37	1	3349	1	C15orf55	15	34649616	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		34649616	67881776	10	5470											
RAB27A	5873	broad.mit.edu	37	chr15	55497812	55497812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacttgtccacacaccGttccattcgcttcattatca	5	15	2	0	rs144946000	byFrequency	TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr15:55497812G>A	uc002acr.3	-	6	801	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RAB27A_uc002aco.3_Missense_Mutation_p.R187W|RAB27A_uc002acp.3_Missense_Mutation_p.R187W|RAB27A_uc002acq.3_Missense_Mutation_p.R187W	NM_183235	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 3, mRNA.	187					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TCCACACACCGTTCCATTCGC	0.473													12	118					0	0	1	0	0	A	55497812	G	A	55497812	3	1	319	1	0	0	0	0	1	0	0	0	12914	1144	40	1	110	1	RAB27A	15	55497812	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08	20848196	55497812	47033580	11	5471											
SPNS1	83985	broad.mit.edu	37	chr16	28990543	28990543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagttattccaccatcgCgcccactctcattgccgacc	7	18	1	0			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr16:28990543C>T	uc010vdi.1	+	4	652	c.512C>T	c.(511-513)gCg>gTg	p.A171V	NPIPL1_uc010vct.2_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.A171V|SPNS1_uc002drx.2_Missense_Mutation_p.A98V|SPNS1_uc002dsa.2_Missense_Mutation_p.A171V|SPNS1_uc002drz.2_Missense_Mutation_p.A171V|SPNS1_uc010byp.2_Missense_Mutation_p.A149V	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	171					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCATCGCGCCCACTCTC	0.657													33	63					0	0	1	0	0	T	28990543	C	T	28990543	3	4	319	1	0	0	0	0	1	0	0	0	15073	768	27	1	526	1	SPNS1	16	28990543	Missense_Mutation	SNP	C	TCGA-ET-A39T-01A-11D-A19J-08		28990543	61364210	12	5472											
SNRNP70	6625	broad.mit.edu	37	chr19	49611420	49611420	+	Frame_Shift_Del	DEL	A	A	-													cggccctgacggtccagaggAaaagggccgggatcgtgacc							TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr19:49611420delA	uc002pmk.3	+	9	1473	c.1034delA	c.(1033-1035)gaafs	p.E345fs	SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript|SNRNP70_uc021uxh.1_Frame_Shift_Del_p.K132fs	NM_003089	NP_003080	P08621	RU17_HUMAN	Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.	345	Arg/Asp/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGTCCAGAGGAAAAgggccgg	0.746													2	4	---	---	---	---						-	49611420	A	-	49611420	7	5	319	1	0	1	0	1	0	0	0	0	14858	246	9	0	1068	0	SNRNP70	19	49611420	Frame_Shift_Del	DEL	A	TCGA-ET-A39T-01A-11D-A19J-08		49611420	9517563	13	5473											
SNX21	90203	broad.mit.edu	37	chr20	44463079	44463079	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggccctgaccagctgcccctCggggatgggacgtcaggaga	16	13	1	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr20:44463079C>A	uc002xpv.1	+	1	350	c.261C>A	c.(259-261)ctC>ctA	p.L87L	SNX21_uc002xpt.1_Silent_p.L87L|SNX21_uc002xps.1_Silent_p.L87L|SNX21_uc002xpu.1_Silent_p.L87L|SNX21_uc002xpw.1_5'UTR|SNX21_uc010zxd.1_Silent_p.L78L|SNX21_uc002xpy.1_5'Flank	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	87					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				AGCTGCCCCTCGGGGATGGGA	0.692													3	22					0	0	1	0	0	A	44463079	C	A	44463079	2	1	319	1	0	0	0	0	0	0	0	1	14893	871	31	4		4	SNX21	20	44463079	Silent	SNP	C	TCGA-ET-A39T-01A-11D-A19J-08		44463079	18562441	14	5474											
ASMTL	8623	broad.mit.edu	37	chrX	1540713	1540713	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgatgccaggtagacgttCgctgtctctgtgttactgta	11	10	1	1			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chrX:1540713C>T	uc004cpx.2	-	8	1220	c.1083G>A	c.(1081-1083)gcG>gcA	p.A361A	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Silent_p.A345A|ASMTL_uc011mhe.2_Silent_p.A285A|ASMTL_uc011mhf.2_Silent_p.A303A	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	361	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTAGACGTTCGCTGTCTCTG	0.488													17	192					0	0	1	0	0	T	1540713	C	T	1540713	2	4	319	1	0	0	0	0	0	0	0	1	1046	871	31	1		1	ASMTL	23	1540713	Silent	SNP	C	TCGA-ET-A39T-01A-11D-A19J-08		1540713	153729847	15	5475											
THOC2	57187	broad.mit.edu	37	chrX	122830671	122830671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggatccaggcgttcctttaGaactgtgtctgaaactaaat	9	8	1	2			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chrX:122830671G>C	uc004etu.3	-	5	399	c.367C>G	c.(367-369)Cta>Gta	p.L123V	THOC2_uc011muh.1_Missense_Mutation_p.L44V|THOC2_uc011mui.1_Missense_Mutation_p.L8V	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	123					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CGTTCCTTTAGAACTGTGTCT	0.318													38	48					0	0	1	0	0	C	122830671	G	C	122830671	3	2	319	1	0	0	0	0	1	0	0	0	15862	933	33	4	4546	4	THOC2	23	122830671	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08	121289958	122830671	32439889	16	5476											
SF3A3	10946	broad.mit.edu	37	chr1	38444416	38444416	+	Frame_Shift_Del	DEL	T	T	-													tggtgccctttgacttgggaTttttggcaaacaaagaggta							TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr1:38444416delT	uc001cci.3	-	10	1035	c.911delA	c.(910-912)aatfs	p.N304fs	SF3A3_uc010oik.2_Frame_Shift_Del_p.N251fs	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	304					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGACTTGGGATTTTTGGCAAA	0.488													2	4	---	---	---	---						-	38444416	T	-	38444416	7	5	320	1	0	1	0	1	0	0	0	0	14148	1493	52	0	622	0	SF3A3	1	38444416	Frame_Shift_Del	DEL	T	TCGA-ET-A3BN-01A-11D-A19J-08		38444416	210806205	1	5477											
GALNT14	79623	broad.mit.edu	37	chr2	31147110	31147110	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcggatattgcccttctggaTggaggactccttggggatgc	14	9	1	0			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr2:31147110T>A	uc002rns.3	-	13	1910	c.1270A>T	c.(1270-1272)Atc>Ttc	p.I424F	GALNT14_uc002rnq.3_Missense_Mutation_p.I399F|GALNT14_uc010ymr.2_Missense_Mutation_p.I384F|GALNT14_uc002rnr.3_Missense_Mutation_p.I419F|GALNT14_uc010ezo.2_Missense_Mutation_p.I386F	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	419	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCCTTCTGGATGGAGGACTCC	0.537													28	79					0	0	1	0	0	A	31147110	T	A	31147110	3	1	320	1	0	0	0	0	1	0	0	0	6212	1464	51	5	415	5	GALNT14	2	31147110	Missense_Mutation	SNP	T	TCGA-ET-A3BN-01A-11D-A19J-08		31147110	212052263	2	5478											
USP49	25862	broad.mit.edu	37	chr6	41773536	41773536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctgcgcgtcctgttggtCgtagccgcggaaggcaggga	16	11	0	0			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr6:41773536C>T	uc003ori.3	-	3	1408	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	396					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTGTTGGTCGTAGCCGCGG	0.622													6	36					0	0	1	0	0	T	41773536	C	T	41773536	3	4	320	1	0	0	0	0	1	0	0	0	17077	884	31	1	752	1	USP49	6	41773536	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		41773536	129341531	3	5479											
OR56A1	120796	broad.mit.edu	37	chr11	6048549	6048549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcagatggccacataaCggtcataggccatgaccata	12	10	1	2			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr11:6048549C>T	uc010qzw.2	-	0	423	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.507													28	40					0	0	1	0	0	T	6048549	C	T	6048549	3	4	320	1	0	0	0	0	1	0	0	0	11133	536	19	1	574	1	OR56A1	11	6048549	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		6048549	128957967	4	5480											
SYTL2	54843	broad.mit.edu	37	chr11	85436918	85436918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagaaacacttggttcAagcacttgttttccatgaac	6	9	2	2			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr11:85436918A>G	uc001pbb.3	-	0	594	c.582T>C	c.(580-582)ctT>ctC	p.L194L	SYTL2_uc010rtg.2_Intron|SYTL2_uc010rth.2_Intron|SYTL2_uc010rti.2_Intron|SYTL2_uc010rtj.2_Intron|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Silent_p.L194L|SYTL2_uc001pbc.3_Silent_p.L194L|SYTL2_uc010rtf.2_Intron	NM_206927	NP_996810	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant c, mRNA.	231					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CACTTGGTTCAAGCACTTGTT	0.403													9	84					0	0	1	0	0	G	85436918	A	G	85436918	2	3	320	1	0	0	0	0	0	0	0	1	15480	117	5	3		3	SYTL2	11	85436918	Silent	SNP	A	TCGA-ET-A3BN-01A-11D-A19J-08	79388369	85436918	49569598	5	5481											
PITPNM2	57605	broad.mit.edu	37	chr12	123472877	123472877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagctccaagatgctGgagttgtcatgcctcatgac	9	13	2	2			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr12:123472877G>A	uc001uej.1	-	18	3100	c.2901C>T	c.(2899-2901)tcC>tcT	p.S967S	PITPNM2_uc001uek.1_Silent_p.S961S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	967					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAAGATGCTGGAGTTGTCAT	0.632													10	146					0	0	1	0	0	A	123472877	G	A	123472877	2	1	320	1	0	0	0	0	0	0	0	1	11951	1335	47	2		2	PITPNM2	12	123472877	Silent	SNP	G	TCGA-ET-A3BN-01A-11D-A19J-08		123472877	10379018	6	5482											
NFATC4	4776	broad.mit.edu	37	chr14	24839190	24839190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccctgtatgcagcctgcGacgaggtggagtctgagcta	14	11	1	1			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr14:24839190G>A	uc010tol.2	+	2	891	c.775G>A	c.(775-777)Gac>Aac	p.D259N	NFATC4_uc010alr.3_Missense_Mutation_p.D259N|NFATC4_uc010tok.2_Missense_Mutation_p.D259N|NFATC4_uc010als.2_Missense_Mutation_p.D209N|NFATC4_uc010too.2_Missense_Mutation_p.D209N|NFATC4_uc010tom.2_Missense_Mutation_p.D209N|NFATC4_uc010ton.2_Missense_Mutation_p.D209N|NFATC4_uc010toq.2_Missense_Mutation_p.D228N|NFATC4_uc010alt.3_Missense_Mutation_p.D228N|NFATC4_uc010top.2_Missense_Mutation_p.D228N|NFATC4_uc010alu.3_Intron|NFATC4_uc001wpc.3_Missense_Mutation_p.D196N|NFATC4_uc010tor.2_Missense_Mutation_p.D196N|NFATC4_uc010tos.2_Missense_Mutation_p.D126N|NFATC4_uc010tot.2_Missense_Mutation_p.D184N|NFATC4_uc010tou.2_Missense_Mutation_p.D126N|NFATC4_uc010tov.2_Missense_Mutation_p.D184N|NFATC4_uc010tow.2_Missense_Mutation_p.D126N|NFATC4_uc010alv.3_Missense_Mutation_p.D184N|NFATC4_uc010tox.2_Missense_Mutation_p.D126N|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_001198966	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA.	196	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGCAGCCTGCGACGAGGTGGA	0.682													3	32					0	0	1	0	0	A	24839190	G	A	24839190	3	1	320	1	0	0	0	0	1	0	0	0	10365	1058	37	1	785	1	NFATC4	14	24839190	Missense_Mutation	SNP	G	TCGA-ET-A3BN-01A-11D-A19J-08		24839190	82510350	7	5483											
BRCA1	672	broad.mit.edu	37	chr17	41246314	41246314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatttagaacgtccaataCatcagctactttggcatttg	6	10	2	1			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr17:41246314C>T	uc002ict.3	-	9	1466	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.V341I|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.V365I|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc002icq.3_Missense_Mutation_p.V412I|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.V412I|BRCA1_uc002ide.1_Missense_Mutation_p.V243I|BRCA1_uc010cyy.1_Missense_Mutation_p.V412I|BRCA1_uc010whs.1_Missense_Mutation_p.V412I|BRCA1_uc010cyz.2_Missense_Mutation_p.V365I|BRCA1_uc010cza.2_Missense_Mutation_p.V386I|BRCA1_uc010wht.1_Missense_Mutation_p.V116I	NM_007300	NP_009231	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 2, mRNA.	412					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.V412L(2)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTCCAATACATCAGCTACT	0.383			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			9	114					0	0	1	0	0	T	41246314	C	T	41246314	3	4	320	1	0	0	0	0	1	0	0	0	1498	478	17	2	4483	2	BRCA1	17	41246314	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		41246314	39948896	8	5484											
PIR	8544	broad.mit.edu	37	chrX	15509287	15509287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacccaactagcatacctCgggtctgccaatgcttctcc	7	17	2	0			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chrX:15509287C>T	uc004cwu.3	-	1	579	c.94G>A	c.(94-96)Gag>Aag	p.E32K	FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Missense_Mutation_p.E32K|BMX_uc004cww.3_Intron	NM_003662	NP_003653	O00625	PIR_HUMAN	Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.	32					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	p.P31P(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TAGCATACCTCGGGTCTGCCA	0.552													11	136					0	0	1	0	0	T	15509287	C	T	15509287	3	4	320	1	0	0	0	0	1	0	0	0	11944	893	31	1	814	1	PIR	23	15509287	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		15509287	139761273	9	5485											
C1orf173	127254	broad.mit.edu	37	chr1	75102110	75102110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcctggagcagtatatgGtcgaggggctgtctagacaa	13	7	1	1			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr1:75102110G>A	uc001dgg.3	-	5	676	c.457C>T	c.(457-459)Cca>Tca	p.P153S	C1orf173_uc001dgi.4_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	153										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCAGTATATGGTCGAGGGGCT	0.403													15	264					0	0	1	0	0	A	75102110	G	A	75102110	3	1	321	1	0	0	0	0	1	0	0	0	2014	1261	44	2	4171	2	C1orf173	1	75102110	Missense_Mutation	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08		75102110	174148511	1	5486											
LTBP1	4052	broad.mit.edu	37	chr2	33335734	33335734	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaagtactttccagccCagaaggggatttcaggagag	12	10	1	2			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr2:33335734C>T	uc021vft.1	+	3	972	c.949C>T	c.(949-951)Cag>Tag	p.Q317*		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	317					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTTCCAGCCCAGAAGGGGAT	0.483													12	134					0	0	1	0	0	T	33335734	C	T	33335734	4	4	321	1	0	0	0	0	0	1	0	0	9073	595	21	2	963	2	LTBP1	2	33335734	Nonsense_Mutation	SNP	C	TCGA-ET-A3BO-01A-11D-A19J-08		33335734	209863639	2	5487											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	68					0	0	1	0	0	T	140453136	A	T	140453136	3	4	321	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BO-01A-11D-A19J-08		140453136	18685527	3	5488											
TG	7038	broad.mit.edu	37	chr8	133981764	133981765	+	Frame_Shift_Ins	INS	-	-	AT													cgttccaaaaactgatggggINSatatccattagaaataaagt							TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr8:133981764_133981765insAT	uc003ytw.3	+	31	5966_5967	c.5925_5926insAT	c.(5923-5928)gggatafs	p.G1975fs	TG_uc010mdw.3_Frame_Shift_Ins_p.G734fs|TG_uc011ljb.2_Frame_Shift_Ins_p.G344fs|TG_uc011ljc.2_Frame_Shift_Ins_p.G129fs	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1975					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACTGATGGGGATATCCATTAG	0.347													38	85	---	---	---	---						AT	133981765	-	AT	133981764	7	5	321	1	0	1	1	0	0	0	0	0	15810	1161	41	0	6051	0	TG	8	133981764	Frame_Shift_Ins	INS	-	TCGA-ET-A3BO-01A-11D-A19J-08		133981764	12382258	4	5489											
H2AFX	3014	broad.mit.edu	37	chr11	118966071	118966071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgacttggccttggcgcGggccttgccgccagtcttgc	15	15	1	0			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr11:118966071G>T	uc001pvg.3	-	0	107	c.34C>A	c.(34-36)Cgc>Agc	p.R12S		NM_002105	NP_002096	P16104	H2AX_HUMAN	Homo sapiens H2A histone family, member X (H2AFX), mRNA.	12					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GCCTTGGCGCGGGCCTTGCCG	0.687								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0	0	1	0	0	T	118966071	G	T	118966071	3	4	321	1	0	0	0	0	1	0	0	0	6928	1116	39	4	401	4	H2AFX	11	118966071	Missense_Mutation	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08		118966071	16040445	5	5490											
EMR2	30817	broad.mit.edu	37	chr19	14865797	14865797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggccatgaggacggcaAagctgctcaggtgggtgcaa	17	8	1	1			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr19:14865797A>G	uc002mzp.1	-	13	2015	c.1559T>C	c.(1558-1560)tTt>tCt	p.F520S	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Missense_Mutation_p.F509S|EMR2_uc002mzq.1_Missense_Mutation_p.F460S|EMR2_uc002mzr.1_Missense_Mutation_p.F471S|EMR2_uc002mzs.1_Missense_Mutation_p.F378S|EMR2_uc002mzt.1_Missense_Mutation_p.F416S|EMR2_uc002mzu.1_Missense_Mutation_p.F427S|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	520	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GAGGACGGCAAAGCTGCTCAG	0.572													4	68					0	0	1	0	0	G	14865797	A	G	14865797	3	3	321	1	0	0	0	0	1	0	0	0	5105	14	1	3	944	3	EMR2	19	14865797	Missense_Mutation	SNP	A	TCGA-ET-A3BO-01A-11D-A19J-08		14865797	44263186	6	5491											
OR7A17	26333	broad.mit.edu	37	chr19	14992048	14992048	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatgatgagcagattcccGagcacagtgaccaggtacat	12	9	0	4			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr19:14992048G>A	uc010xob.2	-	0	120	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GCAGATTCCCGAGCACAGTGA	0.502													6	62					0	0	1	0	0	A	14992048	G	A	14992048	2	1	321	1	0	0	0	0	0	0	0	1	11215	1045	37	1		1	OR7A17	19	14992048	Silent	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08	126251	14992048	44136935	7	5492											
KHDRBS2	202559	broad.mit.edu	37	chr6	62688015	62688015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaatgcatgactcatacGtgaataagcttccccaggtg	8	11	1	2			TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr6:62688015G>A	uc003peg.2	-	3	686	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.S146L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGACTCATACGTGAATAAGCT	0.368													27	40					0	0	1	0	0	A	62688015	G	A	62688015	3	1	322	1	0	0	0	0	1	0	0	0	8147	1145	40	1	634	1	KHDRBS2	6	62688015	Missense_Mutation	SNP	G	TCGA-ET-A3BP-01A-21D-A19J-08		62688015	108427052	1	5493											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	46					0	0	1	0	0	T	140453136	A	T	140453136	3	4	322	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BP-01A-21D-A19J-08		140453136	18685527	2	5494											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524630	10524630	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatgttccaagcggtaatcaGagtttcagtcctagtgtcat	9	8	3	1			TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr16:10524630G>A	uc002czu.3	+	2	380	c.153G>A	c.(151-153)caG>caA	p.Q51Q	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czv.3_Silent_p.Q51Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc002czw.3_Silent_p.Q51Q|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GCGGTAATCAGAGTTTCAGTC	0.408													21	26					0	0	1	0	0	A	10524630	G	A	10524630	2	1	322	1	0	0	0	0	0	0	0	1	1088	933	33	2		2	ATF7IP2	16	10524630	Silent	SNP	G	TCGA-ET-A3BP-01A-21D-A19J-08		10524630	79830123	3	5495											
ADCY7	113	broad.mit.edu	37	chr16	50339756	50339756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagaagggctttgagcGcgaggtgagggcccccagca	17	11	0	3	rs77603243	by1000genomes	TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr16:50339756G>A	uc002egd.1	+	12	2016	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	ADCY7_uc002egc.2_Missense_Mutation_p.R583H	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	583					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGCTTTGAGCGCGAGGTGAGG	0.672													12	26					0	0	1	0	0	A	50339756	G	A	50339756	3	1	322	1	0	0	0	0	1	0	0	0	299	1087	38	1	1798	1	ADCY7	16	50339756	Missense_Mutation	SNP	G	TCGA-ET-A3BP-01A-21D-A19J-08	39815126	50339756	40014997	4	5496											
MXRA5	25878	broad.mit.edu	37	chrX	3242413	3242413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcggttcagctggataTctatggatggctgcatgacc	13	9	2	1			TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chrX:3242413T>G	uc004crg.4	-	4	1470	c.1313A>C	c.(1312-1314)gAt>gCt	p.D438A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	438						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGCTGGATATCTATGGATGG	0.483													31	97					0	0	1	0	0	G	3242413	T	G	3242413	3	3	322	1	0	0	0	0	1	0	0	0	10003	1435	50	5	7185	5	MXRA5	23	3242413	Missense_Mutation	SNP	T	TCGA-ET-A3BP-01A-21D-A19J-08		3242413	152028147	5	5497											
VAV3	10451	broad.mit.edu	37	chr1	108292102	108292102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttttgttttctttatcGgttgtaggattattggctat	8	5	1	0	rs143070546	by1000genomes	TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr1:108292102G>A	uc010ouw.1	-	13	1428	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	VAV3_uc001dvk.1_Silent_p.T458T|VAV3_uc001dvl.1_Silent_p.T282T|VAV3_uc010oux.1_Silent_p.T458T	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	458	PH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTTCTTTATCGGTTGTAGGAT	0.294													9	42					0	0	1	0	0	A	108292102	G	A	108292102	2	1	323	1	0	0	0	0	0	0	0	1	17130	1103	39	1		1	VAV3	1	108292102	Silent	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		108292102	140958519	1	5498											
SLC8A1	6546	broad.mit.edu	37	chr2	40342407	40342407	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctttagaagccttttaTgtggcagtaggcctccaggg	12	9	0	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:40342407T>C	uc002rrx.3	-	9	2932	c.2908A>G	c.(2908-2910)Ata>Gta	p.I970V	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.I965V|SLC8A1_uc002rsb.2_Missense_Mutation_p.I962V|SLC8A1_uc002rrz.3_Missense_Mutation_p.I957V|SLC8A1_uc002rsa.3_Missense_Mutation_p.I934V|SLC8A1_uc002rsd.4_Missense_Mutation_p.I934V	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	970					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGCCTTTTATGTGGCAGTAG	0.408													3	57					0	0	1	0	0	C	40342407	T	C	40342407	3	2	323	1	0	0	0	0	1	0	0	0	14706	1464	51	3	17	3	SLC8A1	2	40342407	Missense_Mutation	SNP	T	TCGA-ET-A3BQ-01B-11D-A202-08		40342407	202856966	2	5499											
WIPF1	7456	broad.mit.edu	37	chr2	175436655	175436655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcggagtggaaggcactGgaggcttgttgttctgagga	18	7	1	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:175436655G>A	uc010fqt.1	-	4	1042	c.878C>T	c.(877-879)cCa>cTa	p.P293L	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.P293L|WIPF1_uc002ujc.1_Missense_Mutation_p.P293L|WIPF1_uc002uiz.3_Missense_Mutation_p.P293L|WIPF1_uc002ujb.2_Missense_Mutation_p.P293L|WIPF1_uc010zep.1_Missense_Mutation_p.P293L	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	293	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAAGGCACTGGAGGCTTGTT	0.672													3	22					0	0	1	0	0	A	175436655	G	A	175436655	3	1	323	1	0	0	0	0	1	0	0	0	17364	1348	47	2	649	2	WIPF1	2	175436655	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	135094248	175436655	67762718	3	5500											
UBE2F	140739	broad.mit.edu	37	chr2	238939226	238939226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacattcaattgatggcaCtggctgggctcccacaagaa	10	10	1	3			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:238939226C>T	uc002vxk.3	+	6	587	c.383C>T	c.(382-384)aCt>aTt	p.T128I	UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Missense_Mutation_p.T96I|UBE2F_uc010znp.2_Intron|SCLY_uc002vxm.4_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.	128					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		ATTGATGGCACTGGCTGGGCT	0.502													8	18					0	0	1	0	0	T	238939226	C	T	238939226	3	4	323	1	0	0	0	0	1	0	0	0	16852	565	20	2	405	2	UBE2F	2	238939226	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08	63502571	238939226	4260147	4	5501											
CCDC39	339829	broad.mit.edu	37	chr3	180381735	180381735	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttcatactcacgtaactCatcttgcaagcttgctcttt	4	13	6	0			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr3:180381735C>T	uc010hxe.3	-	1	245	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	44					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCACGTAACTCATCTTGCAAG	0.333													9	65					0	0	1	0	0	T	180381735	C	T	180381735	3	4	323	1	0	0	0	0	1	0	0	0	2811	835	29	2	2771	2	CCDC39	3	180381735	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08		180381735	17640695	5	5502											
MRFAP1L1	114932	broad.mit.edu	37	chr4	6711139	6711139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggcgctctcctccgagGcctccacctgcgttttgatc	11	15	1	2			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr4:6711139G>A	uc003gjo.3	-	0	468	c.218C>T	c.(217-219)gCc>gTc	p.A73V	MRFAP1L1_uc021xlc.1_Missense_Mutation_p.A73V	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN	Homo sapiens Morf4 family associated protein 1-like 1 (MRFAP1L1), mRNA.	73																	CTCCTCCGAGGCCTCCACCTG	0.602													6	162					0	0	1	0	0	A	6711139	G	A	6711139	3	1	323	1	0	0	0	0	1	0	0	0	9762	1203	42	2	169	2	MRFAP1L1	4	6711139	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		6711139	184443137	6	5503											
MAPK10	5602	broad.mit.edu	37	chr4	87028402	87028402	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggttcacacacttcatgaGgaccagctcccggtacgctc	9	14	2	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr4:87028402G>C	uc003hps.3	-	4	1026	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	MAPK10_uc010ikg.3_Missense_Mutation_p.L76V|MAPK10_uc003hpr.3_Missense_Mutation_p.L76V|MAPK10_uc003hpt.3_Missense_Mutation_p.L114V|MAPK10_uc003hpu.3_Missense_Mutation_p.L114V|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_5'UTR|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	114	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CACTTCATGAGGACCAGCTCC	0.433													3	75					0	0	1	0	0	C	87028402	G	C	87028402	3	2	323	1	0	0	0	0	1	0	0	0	9272	1000	35	4	1099	4	MAPK10	4	87028402	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	80317263	87028402	104125874	7	5504											
FAM153B	202134	broad.mit.edu	37	chr5	175530270	175530270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggagctgtccagttacaaCggcgaggaggaggacccaga	15	10	0	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr5:175530270C>A	uc003mdk.3	+	12	762	c.705C>A	c.(703-705)aaC>aaA	p.N235K	FAM153B_uc021yic.1_Intron	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	235										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCAGTTACAACGGCGAGGAGG	0.448													58	271					0	0	1	0	0	A	175530270	C	A	175530270	3	1	323	1	0	0	0	0	1	0	0	0	5461	535	19	4	755	4	FAM153B	5	175530270	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08		175530270	5384990	8	5505											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				39	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	323	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BQ-01B-11D-A202-08		140453136	18685527	9	5506											
ASB10	136371	broad.mit.edu	37	chr7	150878358	150878358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatggactggcagcggaCgtcacaggcagccagcagtg	17	10	1	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr7:150878358C>T	uc003wjm.1	-	2	1033	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	ASB10_uc003wjl.1_Missense_Mutation_p.V258I|ASB10_uc003wjn.1_Missense_Mutation_p.V243I	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	258					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGCGGACGTCACAGGCA	0.647													7	19					0	0	1	0	0	T	150878358	C	T	150878358	3	4	323	1	0	0	0	0	1	0	0	0	1014	536	19	1	643	1	ASB10	7	150878358	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08	10425222	150878358	8260305	10	5507											
IL2RA	3559	broad.mit.edu	37	chr10	6061871	6061871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtctcactctcaggaCggccttcggggcttgcctga	13	12	2	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:6061871C>T	uc001iiz.2	-	4	836	c.617G>A	c.(616-618)cGt>cAt	p.R206H	IL2RA_uc009xih.2_Missense_Mutation_p.R134H|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	206					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACTCTCAGGACGGCCTTCGGG	0.597													4	85					0	0	1	0	0	T	6061871	C	T	6061871	3	4	323	1	0	0	0	0	1	0	0	0	7686	536	19	1	217	1	IL2RA	10	6061871	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08		6061871	129472876	11	5508											
SVIL	6840	broad.mit.edu	37	chr10	29769508	29769508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccacttgaccacataggcatCcccctcatggaactgcccga	7	17	1	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:29769508C>A	uc001iut.1	-	28	6088	c.5335G>T	c.(5335-5337)Gat>Tat	p.D1779Y	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.D693Y|SVIL_uc001iuu.1_Missense_Mutation_p.D1353Y|SVIL_uc009xlc.2_Missense_Mutation_p.D571Y	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1779					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACATAGGCATCCCCCTCATGG	0.557													29	46					0	0	1	0	0	A	29769508	C	A	29769508	3	1	323	1	0	0	0	0	1	0	0	0	15418	855	30	4	1349	4	SVIL	10	29769508	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08	23707637	29769508	105765239	12	5509											
COMTD1	118881	broad.mit.edu	37	chr10	76994748	76994748	+	Frame_Shift_Del	DEL	G	G	-													tcgatcttgtgctccgcctcGgcctgcggagggagcgggtc							TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:76994748delG	uc001jxb.3	-	4	534	c.450delC	c.(448-450)gccfs	p.A150fs		NM_144589	NP_653190	Q86VU5	CMTD1_HUMAN	Homo sapiens catechol-O-methyltransferase domain containing 1 (COMTD1), mRNA.	150						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GCTCCGCCTCGGCCTGCGGAG	0.697													2	4	---	---	---	---						-	76994748	G	-	76994748	7	5	323	1	0	1	0	1	0	0	0	0	3726	1103	39	0	350	0	COMTD1	10	76994748	Frame_Shift_Del	DEL	G	TCGA-ET-A3BQ-01B-11D-A202-08	47225240	76994748	58539999	13	5510											
B3GNTL1	146712	broad.mit.edu	37	chr17	80923589	80923589	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgagcagaaccaggtggGcatgatcaccgtggggccat	15	11	1	2			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr17:80923589G>C	uc002kgg.1	-	6	552	c.538C>G	c.(538-540)Ccc>Gcc	p.P180A	B3GNTL1_uc002kgf.1_Missense_Mutation_p.P69A|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	180							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AACCAGGTGGGCATGATCACC	0.552													10	12					0	0	1	0	0	C	80923589	G	C	80923589	3	2	323	1	0	0	0	0	1	0	0	0	1265	1203	42	4	571	4	B3GNTL1	17	80923589	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		80923589	271621	14	5511											
ARMCX1	51309	broad.mit.edu	37	chrX	100808364	100808364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggaggcaggggtggaGgctgccaccccaccaggagt	17	13	0	0			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chrX:100808364G>A	uc004ehv.3	+	3	822	c.451G>A	c.(451-453)Ggc>Agc	p.G151S	ARMCX1_uc004ehw.3_Missense_Mutation_p.G151S|ARMCX1_uc022cak.1_Missense_Mutation_p.G151S	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	151						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CAGGGGTGGAGGCTGCCACCC	0.617													4	141					0	0	1	0	0	A	100808364	G	A	100808364	3	1	323	1	0	0	0	0	1	0	0	0	959	1000	35	2	453	2	ARMCX1	23	100808364	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		100808364	54462196	15	5512											
FLNA	2316	broad.mit.edu	37	chrX	153585851	153585851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcacggcacgcacgcgGtacggggagaaggggatctc	19	10	1	1			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chrX:153585851G>A	uc004fkk.2	-	28	5145	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Silent_p.Y1632Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1632					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACGCACGCGGTACGGGGAGA	0.657													3	43					0	0	1	0	0	A	153585851	G	A	153585851	2	1	323	1	0	0	0	0	0	0	0	1	5933	1256	44	2		2	FLNA	23	153585851	Silent	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	52777487	153585851	1684709	16	5513											
MAST2	23139	broad.mit.edu	37	chr1	46501483	46501483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagtgcccccagactggcCcatccatcttatgaggatcc	8	16	1	2			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr1:46501483C>T	uc001cov.3	+	28	5425	c.5142C>T	c.(5140-5142)gcC>gcT	p.A1714A	MAST2_uc001cow.3_Silent_p.A1713A|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1714					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGACTGGCCCATCCATCTT	0.577													4	85					0	0	1	0	0	T	46501483	C	T	46501483	2	4	324	1	0	0	0	0	0	0	0	1	9325	610	22	2		2	MAST2	1	46501483	Silent	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		46501483	202749138	1	5514											
RGS21	431704	broad.mit.edu	37	chr1	192321267	192321267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaagactttaagaaaaCgaaaaatgcagacaaaattg	8	5	0	4			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr1:192321267C>T	uc001gsh.3	+	3	353	c.179C>T	c.(178-180)aCg>aTg	p.T60M		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	60	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTAAGAAAACGAAAAATGCA	0.348													3	16					0	0	1	0	0	T	192321267	C	T	192321267	3	4	324	1	0	0	0	0	1	0	0	0	13304	536	19	1	189	1	RGS21	1	192321267	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08	145819784	192321267	56929354	2	5515											
NPAS2	4862	broad.mit.edu	37	chr2	101598737	101598737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaccatcaaagaccagctAgagcagcggacgcggatcct	11	13	1	3			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr2:101598737A>G	uc010yvt.1	+	15	1724	c.1722A>G	c.(1720-1722)ctA>ctG	p.L574L	NPAS2_uc002tap.1_Silent_p.L509L|NPAS2_uc010fit.1_Silent_p.L87L	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	509					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.A573A(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGACCAGCTAGAGCAGCGGA	0.527													4	55					0	0	1	0	0	G	101598737	A	G	101598737	2	3	324	1	0	0	0	0	0	0	0	1	10563	407	15	3		3	NPAS2	2	101598737	Silent	SNP	A	TCGA-ET-A3BS-01A-11D-A202-08		101598737	141600636	3	5516											
CDH12	1010	broad.mit.edu	37	chr5	22078769	22078769	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccagagaagcagggataaaCagttccttgtaagcattggc	11	9	0	1			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr5:22078769C>G	uc010iuc.2	-	1	475	c.17G>C	c.(16-18)tGt>tCt	p.C6S	CDH12_uc011cno.1_Missense_Mutation_p.C6S|CDH12_uc003jgk.2_Missense_Mutation_p.C6S	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	6					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGGGATAAACAGTTCCTTGT	0.448										HNSCC(59;0.17)			29	55					0	0	1	0	0	G	22078769	C	G	22078769	3	3	324	1	0	0	0	0	1	0	0	0	3098	478	17	4	2411	4	CDH12	5	22078769	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		22078769	158836491	4	5517											
LIFR	3977	broad.mit.edu	37	chr5	38511959	38511959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatgaagattgtcaatGtagcatctaatttccacaaa	6	6	2	2			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr5:38511959G>A	uc010ive.1	-	5	1001	c.669C>T	c.(667-669)taC>taT	p.Y223Y	LIFR_uc003jli.2_Silent_p.Y223Y	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	223					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GATTGTCAATGTAGCATCTAA	0.393			T	PLAG1	salivary adenoma								12	29					0	0	1	0	0	A	38511959	G	A	38511959	2	1	324	1	0	0	0	0	0	0	0	1	8780	1372	48	2		2	LIFR	5	38511959	Silent	SNP	G	TCGA-ET-A3BS-01A-11D-A202-08	16433190	38511959	142403301	5	5518											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	40					0	0	1	0	0	T	140453136	A	T	140453136	3	4	324	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BS-01A-11D-A202-08		140453136	18685527	6	5519											
LPL	4023	broad.mit.edu	37	chr8	19811648	19811648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctcgatccagctggaCctaactttgagtatgcagaa	10	10	0	2			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr8:19811648C>T	uc003wzk.4	+	4	929	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	187					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TCCAGCTGGACCTAACTTTGA	0.453													27	50					0	0	1	0	0	T	19811648	C	T	19811648	3	4	324	1	0	0	0	0	1	0	0	0	8921	507	18	2	577	2	LPL	8	19811648	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		19811648	126552374	7	5520											
EXPH5	23086	broad.mit.edu	37	chr11	108384325	108384325	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actctgaggattccttctgtCatcagaaatctgggaaaagg	10	8	5	2			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr11:108384325C>T	uc001pkk.3	-	5	2020	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N	EXPH5_uc010rvz.2_Missense_Mutation_p.D481N|EXPH5_uc010rvy.2_Missense_Mutation_p.D449N	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	637					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCTTCTGTCATCAGAAATC	0.408													10	91					0	0	1	0	0	T	108384325	C	T	108384325	3	4	324	1	0	0	0	0	1	0	0	0	5322	826	29	2	4064	2	EXPH5	11	108384325	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		108384325	26622191	8	5521											
SLC25A3	5250	broad.mit.edu	37	chr12	98991696	98991696	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacacttaaagaggatggTgttcgtggtttggctaaagg	14	4	0	1			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr12:98991696T>G	uc001tfo.3	+	3	465	c.345T>G	c.(343-345)ggT>ggG	p.G115G	SLC25A3_uc001tfm.3_Silent_p.G114G|SLC25A3_uc001tfn.3_Silent_p.G114G|SLC25A3_uc001tfp.3_Silent_p.G114G|SLC25A3_uc001tfq.3_5'UTR|SLC25A3_uc001tfr.3_Silent_p.G115G|SLC25A3_uc001tfs.3_Silent_p.G71G|SNORA53_uc001tfu.1_5'Flank	NM_005888	NP_005879	Q00325	MPCP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	115					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AAGAGGATGGTGTTCGTGGTT	0.393													27	51					0	0	1	0	0	G	98991696	T	G	98991696	2	3	324	1	0	0	0	0	0	0	0	1	14493	1683	59	5		5	SLC25A3	12	98991696	Silent	SNP	T	TCGA-ET-A3BS-01A-11D-A202-08		98991696	34860199	9	5522											
MUC16	94025	broad.mit.edu	37	chr19	8962361	8962361	+	Frame_Shift_Del	DEL	C	C	-													ctttgagacttaccagaattCccagttaagggctcatttct							TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr19:8962361delC	uc002mkp.3	-	81	43542	c.43338delG	c.(43336-43338)gggfs	p.G14446fs	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Frame_Shift_Del_p.G1246fs|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13920	SEA 16.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACCAGAATTCCCAGTTAAGG	0.478													2	4	---	---	---	---						-	8962361	C	-	8962361	7	5	324	1	0	1	0	1	0	0	0	0	9973	842	30	0	197	0	MUC16	19	8962361	Frame_Shift_Del	DEL	C	TCGA-ET-A3BS-01A-11D-A202-08		8962361	50166622	10	5523											
CEACAM5	1048	broad.mit.edu	37	chr19	42213808	42213808	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaactcaacaagctaccccaGggcccgcatacagtggtcga	10	14	1	0			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr19:42213808G>C	uc002orl.3	+	1	395	c.274G>C	c.(274-276)Ggg>Cgg	p.G92R	CEACAM5_uc010ehz.1_Missense_Mutation_p.G92R|CEACAM5_uc002orj.1_Missense_Mutation_p.G92R	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	92	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGCTACCCCAGGGCCCGCATA	0.473													6	223					0	0	1	0	0	C	42213808	G	C	42213808	3	2	324	1	0	0	0	0	1	0	0	0	3195	1000	35	4	280	4	CEACAM5	19	42213808	Missense_Mutation	SNP	G	TCGA-ET-A3BS-01A-11D-A202-08	33251447	42213808	16915175	11	5524											
TMEM53	79639	broad.mit.edu	37	chr1	45120353	45120353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacgcgccaggacccggcGtgccaggcgtgcctccacca	13	17	0	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr1:45120353G>A	uc001cmc.3	-	2	748	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	TMEM53_uc001cmd.3_Missense_Mutation_p.R165C|TMEM53_uc009vxh.1_Missense_Mutation_p.R121C|TMEM53_uc010ola.1_Missense_Mutation_p.R121C	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	Homo sapiens transmembrane protein 53 (TMEM53), mRNA.	238						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					AGGACCCGGCGTGCCAGGCGT	0.602													31	48					0	0	1	0	0	A	45120353	G	A	45120353	3	1	325	1	0	0	0	0	1	0	0	0	16176	1145	40	1	125	1	TMEM53	1	45120353	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		45120353	204130268	1	5525											
OR2T4	127074	broad.mit.edu	37	chr1	248525828	248525828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctataccatcctcactccaGtggtgaaccctttaatctat	4	13	3	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr1:248525828G>T	uc001ieh.1	+	0	946	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCACTCCAGTGGTGAACCC	0.463													73	100					0	0	1	0	0	T	248525828	G	T	248525828	3	4	325	1	0	0	0	0	1	0	0	0	11027	1029	36	4	948	4	OR2T4	1	248525828	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	203405475	248525828	724793	2	5526											
RNF7	9616	broad.mit.edu	37	chr3	141462360	141462360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacttttagatgcctgtcTtagatgtcaagctgaaaaca	7	7	2	3			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr3:141462360T>G	uc003eud.3	+	1	318	c.185T>G	c.(184-186)cTt>cGt	p.L62R	RNF7_uc021xet.1_Non-coding_Transcript|RNF7_uc003eue.3_Non-coding_Transcript|RNF7_uc003euc.3_Missense_Mutation_p.L60V|RNF7_uc021xeu.1_Intron	NM_014245	NP_055060	Q9UBF6	RBX2_HUMAN	Homo sapiens ring finger protein 7 (RNF7), transcript variant 1, mRNA.	62					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	NEDD8 ligase activity|copper ion binding|protein binding|zinc ion binding	p.L62V(1)		kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						GATGCCTGTCTTAGATGTCAA	0.358													23	54					0	0	1	0	0	G	141462360	T	G	141462360	3	3	325	1	0	0	0	0	1	0	0	0	13499	1609	56	5	191	5	RNF7	3	141462360	Missense_Mutation	SNP	T	TCGA-ET-A3BT-01A-11D-A19J-08		141462360	56560070	3	5527											
XRN1	54464	broad.mit.edu	37	chr3	142031581	142031581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgagccaaagagatgagaCgacgaaggcattatattagc	11	6	0	3			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr3:142031581C>T	uc003eus.3	-	40	4744	c.4677G>A	c.(4675-4677)tcG>tcA	p.S1559S	XRN1_uc010huu.3_Silent_p.S1013S|XRN1_uc003eut.3_Silent_p.S1546S|XRN1_uc003euu.3_Silent_p.S1547S	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1559					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding	p.S1558L(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGAGATGAGACGACGAAGGCA	0.443													5	120					0	0	1	0	0	T	142031581	C	T	142031581	2	4	325	1	0	0	0	0	0	0	0	1	17456	523	19	1		1	XRN1	3	142031581	Silent	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	569221	142031581	55990849	4	5528											
TTK	7272	broad.mit.edu	37	chr6	80715612	80715612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaattgattccataatgAacaaagtgagagacattaaa	7	5	0	5			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr6:80715612A>G	uc003pjc.3	+	1	163	c.52A>G	c.(52-54)Aac>Gac	p.N18D	TTK_uc003pjb.4_Missense_Mutation_p.N18D	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	18					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTCCATAATGAACAAAGTGAG	0.313													7	56					0	0	1	0	0	G	80715612	A	G	80715612	3	3	325	1	0	0	0	0	1	0	0	0	16717	246	9	3	54	3	TTK	6	80715612	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08		80715612	90399455	5	5529											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	27					0	0	1	0	0	T	140453136	A	T	140453136	3	4	325	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08		140453136	18685527	6	5530											
PTPRD	5789	broad.mit.edu	37	chr9	8454579	8454579	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgttctctattcctcaCctgtcgggtttactgctcca	8	12	2	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr9:8454579C>A	uc003zkp.3	-	18	2760	c.2657_splice	c.e18+1	p.R886_splice	PTPRD_uc003zkq.3_Splice_Site_p.R885_splice|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Splice_Site_p.R882_splice|PTPRD_uc003zkk.3_Intron	NM_130392	NP_569076	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 3, mRNA.	1292	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTATTCCTCACCTGTCGGGTT	0.408										TSP Lung(15;0.13)			5	18					0	0	1	0	0	A	8454579	C	A	8454579	5	1	325	1	0	0	0	0	0	0	1	0	12799	521	18	4	1964	4	PTPRD	9	8454579	Splice_Site	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08		8454579	132758852	7	5531											
OR4C3	256144	broad.mit.edu	37	chr11	48347139	48347139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggaagttgcctgcaccaAtacgtatgtcattggtctgc	11	10	2	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:48347139A>G	uc010rhv.2	+	0	647	c.647A>G	c.(646-648)aAt>aGt	p.N216S		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCTGCACCAATACGTATGTC	0.507													10	37					0	0	1	0	0	G	48347139	A	G	48347139	3	3	325	1	0	0	0	0	1	0	0	0	11050	101	4	3	649	3	OR4C3	11	48347139	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08		48347139	86659377	8	5532											
OR4A5	81318	broad.mit.edu	37	chr11	51411842	51411842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagtaggtgtcagtgcatGccagttccagtaatgggtgc	13	7	1	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:51411842G>A	uc001nhi.2	-	0	607	c.554C>T	c.(553-555)gCa>gTa	p.A185V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GTCAGTGCATGCCAGTTCCAG	0.423													14	12					0	0	1	0	0	A	51411842	G	A	51411842	3	1	325	1	0	0	0	0	1	0	0	0	11043	1319	46	2	397	2	OR4A5	11	51411842	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	3064703	51411842	83594674	9	5533											
ZNF384	171017	broad.mit.edu	37	chr12	6781601	6781601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcccccgagtggatacGgaggtgctgggccaggtagg	18	10	0	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:6781601G>A	uc010sfh.2	-	7	1279	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ZNF384_uc001qqa.3_Intron|ZNF384_uc001qqd.3_Intron	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GAGTGGATACGGAGGTGCTGG	0.617			T	"EWSR1, TAF15 "	ALL								27	36					0	0	1	0	0	A	6781601	G	A	6781601	3	1	325	1	0	0	0	0	1	0	0	0	17872	1116	39	1	740	1	ZNF384	12	6781601	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		6781601	127070294	10	5534											
CCNT1	904	broad.mit.edu	37	chr12	49087741	49087741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagattctgggcagcatatGcatattgtgacttcacattg	11	7	2	2			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:49087741G>T	uc001rsd.4	-	8	1579	c.1256C>A	c.(1255-1257)gCa>gAa	p.A419E	CCNT1_uc009zkz.2_Missense_Mutation_p.A134E|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	419					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGCAGCATATGCATATTGTGA	0.463													81	102					0	0	1	0	0	T	49087741	G	T	49087741	3	4	325	1	0	0	0	0	1	0	0	0	2934	1319	46	4	928	4	CCNT1	12	49087741	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	42306140	49087741	84764154	11	5535											
RSRC2	65117	broad.mit.edu	37	chr12	123001975	123001975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcttctactacgatggCgtctgaaattaaagtgcaca	8	11	2	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:123001975C>T	uc001ucr.3	-	4	561	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RSRC2_uc001uco.3_5'UTR|RSRC2_uc001ucp.3_Missense_Mutation_p.R75H|RSRC2_uc001ucs.3_5'UTR|RSRC2_uc001uct.3_Missense_Mutation_p.R86H|RSRC2_uc021rfm.1_Missense_Mutation_p.R134H	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA.	134	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ACTACGATGGCGTCTGAAATT	0.398													3	28					0	0	1	0	0	T	123001975	C	T	123001975	3	4	325	1	0	0	0	0	1	0	0	0	13715	768	27	1	927	1	RSRC2	12	123001975	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	73914234	123001975	10849920	12	5536											
SMG6	23293	broad.mit.edu	37	chr17	2203563	2203563	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gacttcttcctcctccacccGactggcggattctttgctaa	7	15	2	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr17:2203563G>T	uc002fub.1	-	1	539	c.484C>A	c.(484-486)Cgg>Agg	p.R162R	SMG6_uc002fud.2_Silent_p.R131R	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	162	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.R162L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTCCACCCGACTGGCGGAT	0.468													9	211					0	0	1	0	0	T	2203563	G	T	2203563	2	4	325	1	0	0	0	0	0	0	0	1	14797	1057	37	4		4	SMG6	17	2203563	Silent	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		2203563	78991647	13	5537											
KRT35	3886	broad.mit.edu	37	chr17	39635994	39635994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatttggcattgtcaatctCcaccaccagcctggcattct	6	14	3	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr17:39635994C>T	uc002hws.3	-	1	554	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	171	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TTGTCAATCTCCACCACCAGC	0.488													20	146					0	0	1	0	0	T	39635994	C	T	39635994	3	4	325	1	0	0	0	0	1	0	0	0	8472	864	30	2	880	2	KRT35	17	39635994	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	37432431	39635994	41559216	14	5538											
PPP4R1	9989	broad.mit.edu	37	chr18	9588150	9588150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagctctatgaggacaggGcacactttggtctccacatc	10	12	3	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:9588150G>A	uc002koe.1	-	5	640	c.522C>T	c.(520-522)tgC>tgT	p.C174C	PPP4R1_uc010wzo.1_Silent_p.C131C|PPP4R1_uc002kod.1_Silent_p.C157C|PPP4R1_uc010wzp.1_Non-coding_Transcript	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	174					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TGAGGACAGGGCACACTTTGG	0.448													3	32					0	0	1	0	0	A	9588150	G	A	9588150	2	1	325	1	0	0	0	0	0	0	0	1	12403	1195	42	2		2	PPP4R1	18	9588150	Silent	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		9588150	68489098	15	5539											
TTC39C	125488	broad.mit.edu	37	chr18	21660663	21660663	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagctaactgaagagtcctTgacttctgatgctgcaaatg	10	8	1	4			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:21660663T>A	uc002kuw.3	+	4	1027	c.575T>A	c.(574-576)tTg>tAg	p.L192*	TTC39C_uc002kuu.3_Nonsense_Mutation_p.L131*	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	192							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GAAGAGTCCTTGACTTCTGAT	0.448													24	44					0	0	1	0	0	A	21660663	T	A	21660663	4	1	325	1	0	0	0	0	0	1	0	0	16706	1821	63	5	593	5	TTC39C	18	21660663	Nonsense_Mutation	SNP	T	TCGA-ET-A3BT-01A-11D-A19J-08	12072513	21660663	56416585	16	5540											
DSC3	1825	broad.mit.edu	37	chr18	28602425	28602425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcgtatgcattgtgtcCggttcatctctgtctgtggc	13	10	3	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:28602425C>T	uc002kwj.4	-	6	974	c.819G>A	c.(817-819)ccG>ccA	p.P273P	DSC3_uc002kwi.4_Silent_p.P273P	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	273	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCATTGTGTCCGGTTCATCTC	0.438													22	34					0	0	1	0	0	T	28602425	C	T	28602425	2	4	325	1	0	0	0	0	0	0	0	1	4767	639	23	1		1	DSC3	18	28602425	Silent	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	6941762	28602425	49474823	17	5541											
C19orf35	374872	broad.mit.edu	37	chr19	2278644	2278644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcggtaatacagggcgTccccgctctctgcgcagggt	13	15	1	0			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:2278644T>C	uc002lvn.2	-	2	651	c.551A>G	c.(550-552)gAc>gGc	p.D184G	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	184										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATACAGGGCGTCCCCGCTCTC	0.726													6	9					0	0	1	0	0	C	2278644	T	C	2278644	3	2	325	1	0	0	0	0	1	0	0	0	1920	1667	58	3	878	3	C19orf35	19	2278644	Missense_Mutation	SNP	T	TCGA-ET-A3BT-01A-11D-A19J-08		2278644	56850339	18	5542											
FAM187B	148109	broad.mit.edu	37	chr19	35719205	35719205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtctcgttctgcagggGcctctgacccaggtccttgt	13	13	3	1			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:35719205G>A	uc002nyk.1	-	0	424	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	127						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TTCTGCAGGGGCCTCTGACCC	0.562													48	72					0	0	1	0	0	A	35719205	G	A	35719205	3	1	325	1	0	0	0	0	1	0	0	0	5513	1203	42	2	738	2	FAM187B	19	35719205	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	33440561	35719205	23409778	19	5543											
RNF128	79589	broad.mit.edu	37	chrX	106016280	106016281	+	Frame_Shift_Ins	INS	-	-	T													ttgggtgaatcactattcaaINStttttttcgtttctgtgtcc							TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:106016280_106016281insT	uc004eml.3	+	1	872_873	c.622_623insT	c.(622-624)attfs	p.I208fs	RNF128_uc004emk.3_Frame_Shift_Ins_p.I182fs	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	208						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCACTATTCAATTTTTTTCGTT	0.391													49	90	---	---	---	---						T	106016281	-	T	106016280	7	5	325	1	0	1	1	0	0	0	0	0	13436	101	4	0	1038	0	RNF128	23	106016280	Frame_Shift_Ins	INS	-	TCGA-ET-A3BT-01A-11D-A19J-08		106016280	49254280	20	5544											
CT45A5	441521	broad.mit.edu	37	chrX	134947924	134947924	+	Missense_Mutation	SNP	A	A	T													tacttcgtccaaggcatcggAtttccttcactacttgacat							TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:134947924A>T	uc004eze.3	-	2	646	c.401T>A	c.(400-402)aTc>aAc	p.I134N	CT45A5_uc022ces.1_Missense_Mutation_p.I134N|CT45A5_uc011mvu.2_Missense_Mutation_p.I134N	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	134								p.I134L(1)|p.E133*(1)		endometrium(1)|large_intestine(2)|lung(6)	9						AAGGCATCGGATTTCCTTCAC	0.378													35	55					0	0	1	0	0	T	134947924	A	T	134947924	3	4	325	1	0	0	0	0	1	0	0	0	3988	333	12	5	180	5	CT45A5	23	134947924	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08	28931644	134947924	20322636	21	5545	5	2									
CT45A5	441521	broad.mit.edu	37	chrX	134947928	134947928	+	Missense_Mutation	SNP	C	C	G													tcgtccaaggcatcggatttCcttcactacttgacatttta							TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:134947928C>G	uc004eze.3	-	2	642	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	CT45A5_uc022ces.1_Missense_Mutation_p.E133Q|CT45A5_uc011mvu.2_Missense_Mutation_p.E133Q	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	133								p.E133*(2)		endometrium(1)|large_intestine(2)|lung(6)	9						CATCGGATTTCCTTCACTACT	0.388													35	57					0	0	1	0	0	G	134947928	C	G	134947928	3	3	325	1	0	0	0	0	1	0	0	0	3988	864	30	4	184	4	CT45A5	23	134947928	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	4	134947928	20322632	22	5546	5	2									
IPO11	51194	broad.mit.edu	37	chr5	61832571	61832571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttgctttaagatcatcaAtggttatatctttttatcat	4	6	4	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr5:61832571A>G	uc011cqr.2	+	22	2382	c.2252A>G	c.(2251-2253)aAt>aGt	p.N751S	IPO11_uc003jtc.3_Missense_Mutation_p.N711S|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	711						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAGATCATCAATGGTTATATC	0.239													10	25					0	0	1	0	0	G	61832571	A	G	61832571	3	3	326	1	0	0	0	0	1	0	0	0	7793	101	4	3	2342	3	IPO11	5	61832571	Missense_Mutation	SNP	A	TCGA-ET-A3BU-01A-11D-A19J-08		61832571	119082689	1	5547											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	47					0	0	1	0	0	T	140453136	A	T	140453136	3	4	326	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BU-01A-11D-A19J-08		140453136	18685527	2	5548											
EPPK1	83481	broad.mit.edu	37	chr8	144940596	144940596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacagcctcaggttgcgcaCggggtcgatgacgaagccgg	16	12	1	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr8:144940596C>T	uc003zaa.1	-	0	6839	c.6826G>A	c.(6826-6828)Gtg>Atg	p.V2276M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2276						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTTGCGCACGGGGTCGATG	0.726													5	41					0	0	1	0	0	T	144940596	C	T	144940596	3	4	326	1	0	0	0	0	1	0	0	0	5190	536	19	1	440	1	EPPK1	8	144940596	Missense_Mutation	SNP	C	TCGA-ET-A3BU-01A-11D-A19J-08		144940596	1423426	3	5549											
C9orf106	414318	broad.mit.edu	37	chr9	132084622	132084622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagagcactgatgcccggggGacactgccctttgtgtgtcc	13	13	0	2			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr9:132084622G>T	uc004bxs.2	+	1	583	c.530G>T	c.(529-531)gGa>gTa	p.G177V		NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN	Homo sapiens chromosome 9 open reading frame 106 (C9orf106), mRNA.	177										large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				ATGCCCGGGGGACACTGCCCT	0.597													9	22					0	0	1	0	0	T	132084622	G	T	132084622	3	4	326	1	0	0	0	0	1	0	0	0	2447	1174	41	4	532	4	C9orf106	9	132084622	Missense_Mutation	SNP	G	TCGA-ET-A3BU-01A-11D-A19J-08		132084622	9128809	4	5550											
PPRC1	23082	broad.mit.edu	37	chr10	103899202	103899202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctggtgcgggccatgCacccatactgcctgcccaac	12	15	0	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr10:103899202C>T	uc001kum.3	+	4	976	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	PPRC1_uc001kun.3_Missense_Mutation_p.H193Y|PPRC1_uc010qqj.2_Missense_Mutation_p.H313Y|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCGGGCCATGCACCCATACTG	0.582													16	39					0	0	1	0	0	T	103899202	C	T	103899202	3	4	326	1	0	0	0	0	1	0	0	0	12410	710	25	2	955	2	PPRC1	10	103899202	Missense_Mutation	SNP	C	TCGA-ET-A3BU-01A-11D-A19J-08		103899202	31635545	5	5551											
GIT1	28964	broad.mit.edu	37	chr17	27910005	27910005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgtgcggggtccagcagGgagtgctcccagatggagtt	16	9	0	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr17:27910005G>A	uc002heg.2	-	2	451	c.237C>T	c.(235-237)tcC>tcT	p.S79S	GIT1_uc002hef.2_Silent_p.S79S|GIT1_uc010wbg.1_Silent_p.S79S	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	79	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGTCCAGCAGGGAGTGCTCCC	0.627													17	44					0	0	1	0	0	A	27910005	G	A	27910005	2	1	326	1	0	0	0	0	0	0	0	1	6396	1219	43	2		2	GIT1	17	27910005	Silent	SNP	G	TCGA-ET-A3BU-01A-11D-A19J-08		27910005	53285205	6	5552											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282217	71282217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccttcttcacggggctGgatgacaggctcttgggcag	15	10	3	1			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr17:71282217G>A	uc002jjn.3	-	1	570	c.423C>T	c.(421-423)tcC>tcT	p.S141S	CDC42EP4_uc002jjo.3_Silent_p.S141S|CDC42EP4_uc002jjp.1_Silent_p.S71S|CDC42EP4_uc021ucn.1_Silent_p.S141S	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	141					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TCACGGGGCTGGATGACAGGC	0.652													3	47					0	0	1	0	0	A	71282217	G	A	71282217	2	1	326	1	0	0	0	0	0	0	0	1	3078	1335	47	2		2	CDC42EP4	17	71282217	Silent	SNP	G	TCGA-ET-A3BU-01A-11D-A19J-08	43372212	71282217	9912993	7	5553											
ISYNA1	51477	broad.mit.edu	37	chr19	18547917	18547918	+	Splice_Site	INS	-	-	G													gccgtagtagttggcctcctINSgggggtcagcagacacggcg							TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr19:18547917_18547918insG	uc002njd.2	-	4	501	c.283_splice	c.e4-1	p.E95_splice	ISYNA1_uc002nja.2_5'UTR|ISYNA1_uc002njb.2_Splice_Site|ISYNA1_uc002njc.2_Intron|ISYNA1_uc010xqh.2_Splice_Site|ISYNA1_uc002nje.2_Splice_Site_p.E41_splice	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	95					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GTTGGCCTCCTGGGGGTCAGCA	0.698													2	4	---	---	---	---						G	18547918	-	G	18547917	8	5	326	1	0	1	1	0	0	0	1	0	7867	1594	55	0	1427	0	ISYNA1	19	18547917	Splice_Site	INS	-	TCGA-ET-A3BU-01A-11D-A19J-08		18547917	40581066	8	5554											
CDC42	998	broad.mit.edu	37	chr1	22412941	22412941	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttttctagggcaagaggAttatgacagattacgaccgc	10	8	1	3			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:22412941A>T	uc010odr.2	+	4	489	c.323A>T	c.(322-324)gAt>gTt	p.D108V	CDC42_uc009vqg.1_Missense_Mutation_p.D63V|CDC42_uc001bfp.3_Missense_Mutation_p.D63V|CDC42_uc009vqh.3_Missense_Mutation_p.D22V|CDC42_uc001bfq.3_Missense_Mutation_p.D63V|CDC42_uc001bfr.3_Missense_Mutation_p.D63V|CDC42_uc010ods.2_Missense_Mutation_p.D105V	NM_001039802	NP_001782	P60953	CDC42_HUMAN	Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.	63					T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GGGCAAGAGGATTATGACAGA	0.373													14	69					0	0	1	0	0	T	22412941	A	T	22412941	3	4	327	1	0	0	0	0	1	0	0	0	3071	333	12	5	198	5	CDC42	1	22412941	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		22412941	226837680	1	5555											
IGFN1	91156	broad.mit.edu	37	chr1	201183351	201183351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgacatggaagtgcaGccgggggaggccgccacact	16	12	0	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:201183351G>A	uc001gwc.3	+	12	8905	c.8775G>A	c.(8773-8775)caG>caA	p.Q2925Q	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGAAGTGCAGCCGGGGGAGG	0.657													10	28					0	0	1	0	0	A	201183351	G	A	201183351	2	1	327	1	0	0	0	0	0	0	0	1	7590	962	34	2		2	IGFN1	1	201183351	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	178770410	201183351	48067270	2	5556											
CHI3L1	1116	broad.mit.edu	37	chr1	203148632	203148632	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggaagcgcagatcctggcCacagaaggagccctggaagt	15	10	0	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:203148632C>G	uc001gzi.2	-	9	1264	c.1093G>C	c.(1093-1095)Ggc>Cgc	p.G365R	CHI3L1_uc001gzk.1_3'UTR|CHI3L1_uc001gzj.2_Missense_Mutation_p.G304R|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	365					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						AGATCCTGGCCACAGAAGGAG	0.637													4	65					0	0	1	0	0	G	203148632	C	G	203148632	3	3	327	1	0	0	0	0	1	0	0	0	3340	594	21	4	62	4	CHI3L1	1	203148632	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	1965281	203148632	46101989	3	5557											
TGOLN2	10618	broad.mit.edu	37	chr2	85552043	85552043	+	Frame_Shift_Del	DEL	G	G	-													ctcctccttccttaccttctGgtccaaacgttggtagtcac							TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:85552043delG	uc021vjw.1	-	2	1637	c.1303delC	c.(1303-1305)cagfs	p.Q435fs	TGOLN2_uc002spb.3_Frame_Shift_Del_p.Q377fs|TGOLN2_uc002soz.3_Frame_Shift_Del_p.Q435fs|TGOLN2_uc021vjx.1_Frame_Shift_Del_p.Q435fs|TGOLN2_uc002spa.3_Non-coding_Transcript|TGOLN2_uc002spc.2_Frame_Shift_Del_p.Q435fs	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	435						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTTACCTTCTGGTCCAAACGT	0.502													2	4	---	---	---	---						-	85552043	G	-	85552043	7	5	327	1	0	1	0	1	0	0	0	0	15833	1357	47	0	18	0	TGOLN2	2	85552043	Frame_Shift_Del	DEL	G	TCGA-ET-A3BV-01A-11D-A19J-08		85552043	157647330	4	5558											
TFPI	7035	broad.mit.edu	37	chr2	188332580	188332580	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcatttcccaatgactgaAttgtagtagaatctgttctc	8	9	2	3			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:188332580A>G	uc002upy.3	-	6	1003	c.708T>C	c.(706-708)aaT>aaC	p.N236N		NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	236	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CAATGACTGAATTGTAGTAGA	0.413													17	69					0	0	1	0	0	G	188332580	A	G	188332580	2	3	327	1	0	0	0	0	0	0	0	1	15805	98	4	3		3	TFPI	2	188332580	Silent	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08	102780537	188332580	54866793	5	5559											
ACSL3	2181	broad.mit.edu	37	chr2	223789308	223789308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgtaatactccactgtgCgacaggtaagtaaagactct	10	9	1	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:223789308C>T	uc002vni.3	+	10	1738	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	ACSL3_uc002vnj.3_Silent_p.C429C	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	429					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CTCCACTGTGCGACAGGTAAG	0.323			T	ETV1	prostate								3	54					0	0	1	0	0	T	223789308	C	T	223789308	2	4	327	1	0	0	0	0	0	0	0	1	178	776	27	1		1	ACSL3	2	223789308	Silent	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	35456728	223789308	19410065	6	5560											
IMPDH2	3615	broad.mit.edu	37	chr3	49064023	49064023	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcatattgatctggaagatgGaatttccctgggaagagtcc	11	7	2	3			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr3:49064023G>C	uc003cvt.3	-	7	931	c.839C>G	c.(838-840)tCc>tGc	p.S280C		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	280					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CTGGAAGATGGAATTTCCCTG	0.468													5	78					0	0	1	0	0	C	49064023	G	C	49064023	3	2	327	1	0	0	0	0	1	0	0	0	7727	1174	41	4	733	4	IMPDH2	3	49064023	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		49064023	148958407	7	5561											
C3orf67	200844	broad.mit.edu	37	chr3	58849302	58849302	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctcttcactgctgtcgccGccgtaaaaatcatcctctga	6	15	4	1	rs148755922		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr3:58849302G>T	uc003dkt.1	-	11	1609	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G	C3orf67_uc003dks.1_Silent_p.G215G|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.G215G|C3orf67_uc003dkw.3_Silent_p.G295G	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	400										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TGCTGTCGCCGCCGTAAAAAT	0.423													6	35					0	0	1	0	0	T	58849302	G	T	58849302	2	4	327	1	0	0	0	0	0	0	0	1	2241	1074	38	4		4	C3orf67	3	58849302	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	9785279	58849302	139173128	8	5562											
ARHGAP26	23092	broad.mit.edu	37	chr5	142393652	142393652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttattttccaggtctacaActcgaacaaagacagccaga	6	10	1	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr5:142393652A>C	uc011dbj.2	+	11	1150	c.1115A>C	c.(1114-1116)aAc>aCc	p.N372T	ARHGAP26_uc003lmt.3_Missense_Mutation_p.N372T|ARHGAP26_uc003lmw.3_Missense_Mutation_p.N372T	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	372					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGTCTACAACTCGAACAAA	0.423													15	53					0	0	1	0	0	C	142393652	A	C	142393652	3	2	327	1	0	0	0	0	1	0	0	0	875	43	2	5	1161	5	ARHGAP26	5	142393652	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		142393652	38521608	9	5563											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	327	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		140453136	18685527	10	5564											
SGK223	157285	broad.mit.edu	37	chr8	8176174	8176174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagcagacacgatctcGggggccagccgggcctggct	17	12	1	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr8:8176174G>A	uc003wsh.4	-	4	3711	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1237	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										ACACGATCTCGGGGGCCAGCC	0.612													3	30					0	0	1	0	0	A	8176174	G	A	8176174	2	1	327	1	0	0	0	0	0	0	0	1	14210	1103	39	1		1	SGK223	8	8176174	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		8176174	138187848	11	5565											
MTBP	27085	broad.mit.edu	37	chr8	121457748	121457748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggtgatctggggggaagGaaaattcccgtcggcggcca	17	9	1	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr8:121457748G>A	uc003ypc.1	+	0	83	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MRPL13_uc003ypa.3_5'Flank|MRPL13_uc010mdf.3_5'Flank|MTBP_uc003ypb.1_Missense_Mutation_p.G13E|MTBP_uc011lie.1_Non-coding_Transcript	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	13					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGGGGAAGGAAAATTCCCG	0.582													11	89					0	0	1	0	0	A	121457748	G	A	121457748	3	1	327	1	0	0	0	0	1	0	0	0	9912	1174	41	2	40	2	MTBP	8	121457748	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	113281574	121457748	24906274	12	5566											
DLG5	9231	broad.mit.edu	37	chr10	79581669	79581669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcctcctggggggcctGgctccttcctgtcttccagc	12	16	1	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr10:79581669G>T	uc001jzk.3	-	14	2643	c.2573C>A	c.(2572-2574)cCa>cAa	p.P858Q	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.P462Q	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	858					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGGGGGCCTGGCTCCTTCCT	0.592													10	94					0	0	1	0	0	T	79581669	G	T	79581669	3	4	327	1	0	0	0	0	1	0	0	0	4558	1348	47	4	3258	4	DLG5	10	79581669	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		79581669	55953078	13	5567											
OR5AR1	219493	broad.mit.edu	37	chr11	56431736	56431736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccctctcttgctcagacaCctacatcagtgagatcttgc	8	14	4	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:56431736C>A	uc010rjm.2	+	0	575	c.575C>A	c.(574-576)aCc>aAc	p.T192N	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGCTCAGACACCTACATCAGT	0.453													22	150					0	0	1	0	0	A	56431736	C	A	56431736	3	1	327	1	0	0	0	0	1	0	0	0	11145	507	18	4	577	4	OR5AR1	11	56431736	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08		56431736	78574780	14	5568											
SPTBN2	6712	broad.mit.edu	37	chr11	66472833	66472833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagagccgccgtgattcCtccagccgggcccgccgcgc	13	20	0	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:66472833C>T	uc001ojd.3	-	13	1986	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	638					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGTGATTCCTCCAGCCGGG	0.697													5	33					0	0	1	0	0	T	66472833	C	T	66472833	2	4	327	1	0	0	0	0	0	0	0	1	15119	680	24	2		2	SPTBN2	11	66472833	Silent	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	10041097	66472833	68533683	15	5569											
CHEK1	1111	broad.mit.edu	37	chr11	125513996	125513996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctcagtgaagaaaatGtgaagtactccagttctcag	9	8	2	3	rs34097480		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:125513996G>A	uc010sbh.2	+	8	1607	c.982G>A	c.(982-984)Gtg>Atg	p.V328M	CHEK1_uc009zbo.3_Missense_Mutation_p.V312M|CHEK1_uc010sbi.2_Missense_Mutation_p.V312M|CHEK1_uc001qcf.4_Missense_Mutation_p.V312M|CHEK1_uc009zbp.3_Missense_Mutation_p.V312M|CHEK1_uc001qcg.4_Missense_Mutation_p.V312M			O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 5, non-coding RNA.	312					DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.W328L(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGAAGAAAATGTGAAGTACTC	0.388								Other conserved DNA damage response genes					8	96					0	0	1	0	0	A	125513996	G	A	125513996	3	1	327	1	0	0	0	0	1	0	0	0	3334	1377	48	2	968	2	CHEK1	11	125513996	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	59041163	125513996	9492520	16	5570											
POSTN	10631	broad.mit.edu	37	chr13	38166263	38166263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcctttcattccttccAttctcatataaccagggcaa	6	13	2	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr13:38166263A>G	uc001uwo.4	-	2	375	c.257T>C	c.(256-258)aTg>aCg	p.M86T	POSTN_uc001uwp.4_Missense_Mutation_p.M86T|POSTN_uc001uwr.3_Missense_Mutation_p.M86T|POSTN_uc001uwq.3_Missense_Mutation_p.M86T|POSTN_uc010teu.1_Missense_Mutation_p.M86T|POSTN_uc010tev.1_Missense_Mutation_p.M86T|POSTN_uc010tew.1_Missense_Mutation_p.M86T|POSTN_uc010tex.1_Missense_Mutation_p.M1T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	86	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATTCCTTCCATTCTCATATA	0.333													4	45					0	0	1	0	0	G	38166263	A	G	38166263	3	3	327	1	0	0	0	0	1	0	0	0	12259	217	8	3	2337	3	POSTN	13	38166263	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		38166263	77003615	17	5571											
PTPN21	11099	broad.mit.edu	37	chr14	88945377	88945377	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcggcctgacgtggtgaggtCggactccgacatggagggca	18	10	0	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr14:88945377C>G	uc001xwv.4	-	12	2729	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H	PTPN21_uc010twc.2_Missense_Mutation_p.D596H	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	800						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTGGTGAGGTCGGACTCCGAC	0.647													8	62					0	0	1	0	0	G	88945377	C	G	88945377	3	3	327	1	0	0	0	0	1	0	0	0	12786	884	31	4	1154	4	PTPN21	14	88945377	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08		88945377	18404163	18	5572											
TRIP11	9321	broad.mit.edu	37	chr14	92471796	92471796	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatggtctgtcttaaaatttCattttttcttaaggcctgag	7	6	4	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr14:92471796C>T	uc001xzy.3	-	10	2898	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	TRIP11_uc010auf.2_Missense_Mutation_p.E578K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	842					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAAAATTTCATTTTTTCTT	0.333			T	PDGFRB	AML								5	74					0	0	1	0	0	T	92471796	C	T	92471796	3	4	327	1	0	0	0	0	1	0	0	0	16552	835	29	2	3459	2	TRIP11	14	92471796	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	3526419	92471796	14877744	19	5573											
UBN1	29855	broad.mit.edu	37	chr16	4924499	4924499	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactctgaattcacactgccTgcaccctcaaaagcacctgc	5	16	3	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr16:4924499T>G	uc002cyb.3	+	14	2427	c.2088T>G	c.(2086-2088)ccT>ccG	p.P696P	UBN1_uc010uxw.2_Silent_p.P696P|UBN1_uc002cyc.3_Silent_p.P696P	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	696					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCACACTGCCTGCACCCTCAA	0.498													26	266					0	0	1	0	0	G	4924499	T	G	4924499	2	3	327	1	0	0	0	0	0	0	0	1	16889	1567	55	5		5	UBN1	16	4924499	Silent	SNP	T	TCGA-ET-A3BV-01A-11D-A19J-08		4924499	85430254	20	5574											
SRCAP	10847	broad.mit.edu	37	chr16	30744989	30744989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcaactcggagtgggGgtgtgggcgtgaacctgaca	15	9	1	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr16:30744989G>A	uc002dze.1	+	28	6749	c.6364G>A	c.(6364-6366)Ggt>Agt	p.G2122S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.G1917S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2122	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGGAGTGGGGGTGTGGGCGT	0.502													10	114					0	0	1	0	0	A	30744989	G	A	30744989	3	1	327	1	0	0	0	0	1	0	0	0	15134	1232	43	2	6470	2	SRCAP	16	30744989	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	25820490	30744989	59609764	21	5575											
VMO1	284013	broad.mit.edu	37	chr17	4689488	4689488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggcgaagaatccatcggGacacatctcaggccaggccc	12	14	1	1	rs147226483		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:4689488G>A	uc002fyx.3	-	0	242	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	VMO1_uc010vsh.2_Missense_Mutation_p.P54S|VMO1_uc010vsi.2_Missense_Mutation_p.P54S|VMO1_uc002fyy.3_Missense_Mutation_p.P54S|GLTPD2_uc002fza.2_5'Flank	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	Homo sapiens vitelline membrane outer layer 1 homolog (chicken) (VMO1), transcript variant 1, mRNA.	54					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						AATCCATCGGGACACATCTCA	0.622													8	32					0	0	1	0	0	A	4689488	G	A	4689488	3	1	327	1	0	0	0	0	1	0	0	0	17174	1174	41	2	494	2	VMO1	17	4689488	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		4689488	76505722	22	5576											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38345558	38345558	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggctctgtgacggagaaaCttcaatattcagaggagccc	12	9	3	3			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:38345558C>G	uc010cwu.1	+	5	917	c.427C>G	c.(427-429)Ctt>Gtt	p.L143V	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.L79V	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	349					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GACGGAGAAACTTCAATATTC	0.552													54	185					0	0	1	0	0	G	38345558	C	G	38345558	3	3	327	1	0	0	0	0	1	0	0	0	13049	565	20	4	441	4	RAPGEFL1	17	38345558	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	33656070	38345558	42849652	23	5577											
SPAG9	9043	broad.mit.edu	37	chr17	49052246	49052246	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtcactttatcactgttttCatcaccatatacacggatta	4	10	4	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:49052246C>G	uc002itc.3	-	27	3795	c.3586G>C	c.(3586-3588)Gaa>Caa	p.E1196Q	SPAG9_uc002itd.3_Missense_Mutation_p.E1186Q|SPAG9_uc002itb.3_Missense_Mutation_p.E1182Q|SPAG9_uc002ita.3_Missense_Mutation_p.E1052Q	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	1196					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCACTGTTTTCATCACCATAT	0.418													5	61					0	0	1	0	0	G	49052246	C	G	49052246	3	3	327	1	0	0	0	0	1	0	0	0	14985	835	29	4	391	4	SPAG9	17	49052246	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	10706688	49052246	32142964	24	5578											
OTOP3	347741	broad.mit.edu	37	chr17	72938090	72938090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcaagtcacagctggaCcttgtcttctctgtcatcga	9	13	4	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:72938090C>T	uc010wrr.2	+	2	585	c.585C>T	c.(583-585)gaC>gaT	p.D195D	OTOP3_uc010wrq.2_Silent_p.D177D	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	195						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CACAGCTGGACCTTGTCTTCT	0.567													4	41					0	0	1	0	0	T	72938090	C	T	72938090	2	4	327	1	0	0	0	0	0	0	0	1	11307	506	18	2		2	OTOP3	17	72938090	Silent	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	23885844	72938090	8257120	25	5579											
MGAT5B	146664	broad.mit.edu	37	chr17	74869018	74869018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcggcccggcgcctggggGactcgccattcaccatccgc	12	18	2	0			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:74869018G>A	uc002jti.3	+	0	290	c.187G>A	c.(187-189)Gac>Aac	p.D63N	MGAT5B_uc002jtg.4_Missense_Mutation_p.D52N|MGAT5B_uc002jth.3_Missense_Mutation_p.D52N	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	52						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCCTGGGGGACTCGCCATT	0.602													16	78					0	0	1	0	0	A	74869018	G	A	74869018	3	1	327	1	0	0	0	0	1	0	0	0	9549	1174	41	2	261	2	MGAT5B	17	74869018	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	1930928	74869018	6326192	26	5580											
CTDP1	9150	broad.mit.edu	37	chr18	77474796	77474796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggcctgcccagggtgccAcgggcactgacctggacttt	14	14	0	1			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr18:77474796A>G	uc002lnh.2	+	7	1483	c.1336A>G	c.(1336-1338)Acg>Gcg	p.T446A	CTDP1_uc002lni.2_Missense_Mutation_p.T446A|CTDP1_uc010drd.2_Missense_Mutation_p.T446A|CTDP1_uc021ult.1_Missense_Mutation_p.T327A	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	446					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCAGGGTGCCACGGGCACTGA	0.677													4	8					0	0	1	0	0	G	77474796	A	G	77474796	3	3	327	1	0	0	0	0	1	0	0	0	4002	159	6	3	1366	3	CTDP1	18	77474796	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		77474796	602452	27	5581											
THEG	51298	broad.mit.edu	37	chr19	371211	371211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggggcacccacctcagaCatgggcatgctccagaagtt	11	14	1	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:371211C>T	uc002lol.3	-	5	790	c.747G>A	c.(745-747)atG>atA	p.M249I	THEG_uc002lom.3_Missense_Mutation_p.M225I	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	249					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P248L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCTCAGACATGGGCATGC	0.642													26	147					0	0	1	0	0	T	371211	C	T	371211	3	4	327	1	0	0	0	0	1	0	0	0	15854	478	17	2	404	2	THEG	19	371211	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08		371211	58757772	28	5582											
ZNF461	92283	broad.mit.edu	37	chr19	37129608	37129608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaaacctgactggcttctCgccagtatgaagagtctgat	11	9	2	4			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:37129608C>T	uc002oem.3	-	5	1867	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	ZNF461_uc002oen.3_Missense_Mutation_p.E516K|ZNF461_uc010xtj.2_Missense_Mutation_p.E524K	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACTGGCTTCTCGCCAGTATGA	0.383													3	27					0	0	1	0	0	T	37129608	C	T	37129608	3	4	327	1	0	0	0	0	1	0	0	0	17922	893	31	1	56	1	ZNF461	19	37129608	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	36758397	37129608	21999375	29	5583											
ZNF585B	92285	broad.mit.edu	37	chr19	37676134	37676134	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcacactgtttctctcaagCgtggctgctctgatgaacac	8	13	4	2			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:37676134C>G	uc002ofq.3	-	4	2557	c.2305G>C	c.(2305-2307)Gct>Cct	p.A769P	ZNF585B_uc002ofr.1_Missense_Mutation_p.A583P	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCTCAAGCGTGGCTGCTC	0.448													8	91					0	0	1	0	0	G	37676134	C	G	37676134	3	3	327	1	0	0	0	0	1	0	0	0	18015	768	27	4	8	4	ZNF585B	19	37676134	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	546526	37676134	21452849	30	5584											
INTS3	65123	broad.mit.edu	37	chr1	153745028	153745028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggccacaacccacactcGggataaaacaacctgtgcgt	10	14	0	0			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr1:153745028G>A	uc010peb.2	+	20	2590	c.2315G>A	c.(2314-2316)cGg>cAg	p.R772Q	INTS3_uc009wom.3_Intron|INTS3_uc001fct.3_Intron|INTS3_uc001fcu.3_Intron|INTS3_uc001fcv.3_Intron|INTS3_uc001fcw.3_Intron|INTS3_uc010pec.2_Intron|INTS3_uc001fcx.3_Intron|INTS3_uc001fcy.3_Missense_Mutation_p.R275Q	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	0					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCACACTCGGGATAAAACA	0.572													9	12					0	0	1	0	0	A	153745028	G	A	153745028	3	1	328	1	0	0	0	0	1	0	0	0	7779	1131	39	1		1	INTS3	1	153745028	Missense_Mutation	SNP	G	TCGA-ET-A3BW-01A-11D-A19J-08		153745028	95505593	1	5585											
TTN	7273	broad.mit.edu	37	chr2	179610555	179610555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtacctattggtgcAtaacagtcagaaataccttt	8	9	1	1			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr2:179610555A>G	uc002unb.2	-	45	16797	c.16572T>C	c.(16570-16572)taT>taC	p.Y5524Y	TTN_uc021vsy.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant novex-3, mRNA.	8994	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATTGGTGCATAACAGTCAG	0.418													46	76					0	0	1	0	0	G	179610555	A	G	179610555	2	3	328	1	0	0	0	0	0	0	0	1	16732	224	8	3		3	TTN	2	179610555	Silent	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08		179610555	63588818	2	5586											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				41	39					0	0	1	0	0	T	140453136	A	T	140453136	3	4	328	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08		140453136	18685527	3	5587											
FGFR1	2260	broad.mit.edu	37	chr8	38287336	38287336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgggtgcggttgctttcCgccagctgcaccccgtcccg	13	16	0	0			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr8:38287336C>T	uc011lbu.2	-	3	644	c.321G>A	c.(319-321)gcG>gcA	p.A107A	FGFR1_uc011lbv.2_Silent_p.A74A|FGFR1_uc011lbw.2_Intron|FGFR1_uc003xlp.3_Silent_p.A74A|FGFR1_uc022aub.1_Silent_p.A74A|FGFR1_uc022auc.1_Intron|FGFR1_uc022aud.1_Intron|FGFR1_uc010lwk.3_Silent_p.A66A|FGFR1_uc022aua.1_Silent_p.A74A|FGFR1_uc011lbr.2_5'Flank|FGFR1_uc011lbs.2_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.3_Intron|FGFR1_uc003xlu.3_Intron|FGFR1_uc003xlw.1_Non-coding_Transcript	NM_001174067	NP_056934	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 14, mRNA.	74	Ig-like C2-type 1.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGTTGCTTTCCGCCAGCTGCA	0.667		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						5	14					0	0	1	0	0	T	38287336	C	T	38287336	2	4	328	1	0	0	0	0	0	0	0	1	5863	639	23	1		1	FGFR1	8	38287336	Silent	SNP	C	TCGA-ET-A3BW-01A-11D-A19J-08		38287336	108076686	4	5588											
HSPA5	3309	broad.mit.edu	37	chr9	127999360	127999360	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcaatctgtgggaccccAcgaggagcaggaggaattcc	12	11	2	0			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr9:127999360A>C	uc004bpn.3	-	7	1737	c.1476T>G	c.(1474-1476)cgT>cgG	p.R492R		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	492					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	GTGGGACCCCACGAGGAGCAG	0.423										Prostate(1;0.17)			15	96					0	0	1	0	0	C	127999360	A	C	127999360	2	2	328	1	0	0	0	0	0	0	0	1	7414	146	6	5		5	HSPA5	9	127999360	Silent	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08		127999360	13214071	5	5589											
PPM1D	8493	broad.mit.edu	37	chr17	58734159	58734159	+	Frame_Shift_Del	DEL	C	C	-													ttcctataatagtcaagaaaCctgtgtgatgactccttccc							TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr17:58734159delC	uc002iyt.2	+	4	1449	c.1217delC	c.(1216-1218)accfs	p.T406fs	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	406					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGTCAAGAAACCTGTGTGATG	0.398													34	56	---	---	---	---						-	58734159	C	-	58734159	7	5	328	1	0	1	0	1	0	0	0	0	12337	507	18	0	1235	0	PPM1D	17	58734159	Frame_Shift_Del	DEL	C	TCGA-ET-A3BW-01A-11D-A19J-08		58734159	22461051	6	5590											
TPM4	7171	broad.mit.edu	37	chr19	16199868	16199868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagaaaatgtggtgacCtggaagaagaactcaagaat	12	5	1	5			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr19:16199868C>T	uc002ndi.2	+	5	695	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	TPM4_uc002ndj.2_Silent_p.L157L|TPM4_uc002ndk.1_Silent_p.L67L	NM_001145160	NP_001138632	P67936	TPM4_HUMAN	Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA.	157					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						ATGTGGTGACCTGGAAGAAGA	0.438			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	36					0	0	1	0	0	T	16199868	C	T	16199868	2	4	328	1	0	0	0	0	0	0	0	1	16405	680	24	2		2	TPM4	19	16199868	Silent	SNP	C	TCGA-ET-A3BW-01A-11D-A19J-08		16199868	42929115	7	5591											
VPS13D	55187	broad.mit.edu	37	chr1	12382678	12382678	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaatccatcccagagcaagCtaatgctgcagtgccagact	8	12	0	2			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:12382678C>G	uc001atv.3	+	33	7931	c.7790C>G	c.(7789-7791)gCt>gGt	p.A2597G	VPS13D_uc001atw.3_Missense_Mutation_p.A2597G|VPS13D_uc001atx.3_Missense_Mutation_p.A1785G|VPS13D_uc001aty.1_Missense_Mutation_p.A335G	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2597					protein localization			p.A2597D(2)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAGAGCAAGCTAATGCTGCA	0.473													29	49					0	0	1	0	0	G	12382678	C	G	12382678	3	3	329	1	0	0	0	0	1	0	0	0	17189	797	28	4	7920	4	VPS13D	1	12382678	Missense_Mutation	SNP	C	TCGA-ET-A3BX-01A-11D-A19J-08		12382678	236867943	1	5592											
FLG2	388698	broad.mit.edu	37	chr1	152329145	152329145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaggactgacttgagcCtgttctccattgtcctccac	9	13	1	3			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:152329145C>T	uc001ezw.4	-	2	1190	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	373	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTTGAGCCTGTTCTCCAT	0.468													34	52					0	0	1	0	0	T	152329145	C	T	152329145	3	4	329	1	0	0	0	0	1	0	0	0	5923	681	24	2	6062	2	FLG2	1	152329145	Missense_Mutation	SNP	C	TCGA-ET-A3BX-01A-11D-A19J-08	139946467	152329145	96921476	2	5593											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	37					0	0	1	0	0	T	140453136	A	T	140453136	3	4	329	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BX-01A-11D-A19J-08		140453136	18685527	3	5594											
C12orf50	160419	broad.mit.edu	37	chr12	88379615	88379615	+	Frame_Shift_Del	DEL	A	A	-													caagagtaaaccacatcaacAaaggacctcacctggactga							TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr12:88379615delA	uc001tan.3	-	9	1432	c.1183delT	c.(1183-1185)tgtfs	p.C395fs	C12orf50_uc001tam.1_Intron	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	0								p.S395L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CCACATCAACAAAGGACCTCA	0.488													33	62	---	---	---	---						-	88379615	A	-	88379615	7	5	329	1	0	1	0	1	0	0	0	0	1695	145	5	0		0	C12orf50	12	88379615	Frame_Shift_Del	DEL	A	TCGA-ET-A3BX-01A-11D-A19J-08		88379615	45472280	4	5595											
CTAGE5	4253	broad.mit.edu	37	chr14	39763206	39763206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatactgtgtttctagatGgcggatatttcaaaaaggat	10	5	2	2			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr14:39763206G>A	uc001wvi.4	+	6	849	c.513G>A	c.(511-513)atG>atA	p.M171I	CTAGE5_uc010tqe.1_Missense_Mutation_p.M128I|CTAGE5_uc001wuy.4_Missense_Mutation_p.M86I|CTAGE5_uc001wuz.4_Missense_Mutation_p.M154I|CTAGE5_uc001wva.4_Missense_Mutation_p.M137I|CTAGE5_uc001wvb.4_Missense_Mutation_p.M137I|CTAGE5_uc001wvc.4_Missense_Mutation_p.M111I|CTAGE5_uc001wve.1_Missense_Mutation_p.M142I|CTAGE5_uc001wvf.4_Missense_Mutation_p.M91I|CTAGE5_uc001wvg.4_Missense_Mutation_p.M166I|CTAGE5_uc001wvh.4_Missense_Mutation_p.M166I|CTAGE5_uc010amz.3_5'UTR|CTAGE5_uc001wvj.4_Missense_Mutation_p.M137I	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	166							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GTTTCTAGATGGCGGATATTT	0.343													44	59					0	0	1	0	0	A	39763206	G	A	39763206	3	1	329	1	0	0	0	0	1	0	0	0	3994	1348	47	2	555	2	CTAGE5	14	39763206	Missense_Mutation	SNP	G	TCGA-ET-A3BX-01A-11D-A19J-08		39763206	67586334	5	5596											
CACNA1G	8913	broad.mit.edu	37	chr17	48653257	48653257	+	Frame_Shift_Del	DEL	C	C	-													caccacctggtgcaccaccaCcaccaccatcaccaccacta							TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr17:48653257delC	uc002irk.1	+	7	1866	c.1494delC	c.(1492-1494)cacfs	p.H498fs	CACNA1G_uc002iri.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irj.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irl.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irm.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irn.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002iro.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irp.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irq.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irr.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irs.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irt.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002iru.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irv.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irw.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irx.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002iry.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isg.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002ish.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isi.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002irz.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isa.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isd.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isb.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isc.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002ise.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isf.1_Frame_Shift_Del_p.H411fs	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	498	Poly-His.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGcaccaccaccaccaccatc	0.706													2	4	---	---	---	---						-	48653257	C	-	48653257	7	5	329	1	0	1	0	1	0	0	0	0	2544	506	18	0	1524	0	CACNA1G	17	48653257	Frame_Shift_Del	DEL	C	TCGA-ET-A3BX-01A-11D-A19J-08		48653257	32541953	6	5597											
TRAPPC5	126003	broad.mit.edu	37	chr19	7747624	7747624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttccctgccaaggtcacggCgcactggcacaagggcacca	11	16	1	0			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr19:7747624C>G	uc002mhi.1	+	1	555	c.485C>G	c.(484-486)gCg>gGg	p.A162G	TRAPPC5_uc002mhj.1_Missense_Mutation_p.A162G|TRAPPC5_uc002mhk.1_Missense_Mutation_p.A162G|TRAPPC5_uc021unw.1_Missense_Mutation_p.A162G	NM_001042462	NP_777554	Q8IUR0	TPPC5_HUMAN	Homo sapiens trafficking protein particle complex 5 (TRAPPC5), transcript variant 3, mRNA.	162					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						AAGGTCACGGCGCACTGGCAC	0.652													6	6					0	0	1	0	0	G	7747624	C	G	7747624	3	3	329	1	0	0	0	0	1	0	0	0	16459	768	27	4	487	4	TRAPPC5	19	7747624	Missense_Mutation	SNP	C	TCGA-ET-A3BX-01A-11D-A19J-08		7747624	51381359	7	5598											
SPTBN4	57731	broad.mit.edu	37	chr19	41021270	41021270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgggccgcgttctggacGtgaaccacacagtccaggag	14	11	1	2			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr19:41021270G>A	uc002ony.3	+	14	2904	c.2818G>A	c.(2818-2820)Gtg>Atg	p.V940M	SPTBN4_uc002onx.3_Missense_Mutation_p.V940M|SPTBN4_uc002onz.3_Missense_Mutation_p.V940M|SPTBN4_uc010egx.3_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	940					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGTTCTGGACGTGAACCACAC	0.612													3	14					0	0	1	0	0	A	41021270	G	A	41021270	3	1	329	1	0	0	0	0	1	0	0	0	15120	1145	40	1	2872	1	SPTBN4	19	41021270	Missense_Mutation	SNP	G	TCGA-ET-A3BX-01A-11D-A19J-08	33273646	41021270	18107713	8	5599											
UPK3A	7380	broad.mit.edu	37	chr22	45691583	45691583	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagggctgaggtgtattccAgcaagctccaagactgagcc	12	11	0	3			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr22:45691583A>G	uc003bfy.3	+	5	874	c.847A>G	c.(847-849)Agc>Ggc	p.S283G	UPK3A_uc010gzy.3_Missense_Mutation_p.S162G	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	283					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGTGTATTCCAGCAAGCTCCA	0.637													3	37					0	0	1	0	0	G	45691583	A	G	45691583	3	3	329	1	0	0	0	0	1	0	0	0	17007	188	7	3	869	3	UPK3A	22	45691583	Missense_Mutation	SNP	A	TCGA-ET-A3BX-01A-11D-A19J-08		45691583	5612983	9	5600											
TAS1R3	83756	broad.mit.edu	37	chr1	1269087	1269087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagcccactggttcaggCctcgggggggcccctggcct	16	15	1	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:1269087C>T	uc010nyk.2	+	5	1802	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	601					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CTGGTTCAGGCCTCGGGGGGG	0.692													3	13					0	0	1	0	0	T	1269087	C	T	1269087	3	4	330	1	0	0	0	0	1	0	0	0	15561	739	26	2	1824	2	TAS1R3	1	1269087	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		1269087	247981534	1	5601											
C1orf213	148898	broad.mit.edu	37	chr1	23696056	23696056	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccagatatcgtaggcTgatcctaaagactcagattc	9	10	1	4			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:23696056T>A	uc001bgw.3	+	0	593	c.266T>A	c.(265-267)cTg>cAg	p.L89Q	ZNF436_uc001bgt.3_5'Flank|ZNF436_uc001bgu.3_5'UTR|C1orf213_uc021oif.1_Intron					Homo sapiens chromosome 1 open reading frame 213 (C1orf213), transcript variant 1, non-coding RNA.											kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TATCGTAGGCTGATCCTAAAG	0.567													13	35					0	0	1	0	0	A	23696056	T	A	23696056	3	1	330	1	0	0	0	0	1	0	0	0	2030	1580	55	5	268	5	C1orf213	1	23696056	Missense_Mutation	SNP	T	TCGA-ET-A3DO-01A-11D-A19J-08	22426969	23696056	225554565	2	5602											
SLFNL1	200172	broad.mit.edu	37	chr1	41486324	41486324	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcactgatctcttcatGggggtcatgggaaggctctc	13	9	4	1			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:41486324G>C	uc009vwg.1	-	2	393	c.9C>G	c.(7-9)ccC>ccG	p.P3P	LOC100507178_uc021omd.1_Intron|SLFNL1_uc009vwf.1_Silent_p.P3P|SLFNL1_uc001cgn.2_Silent_p.P3P|SLFNL1_uc001cgm.2_Silent_p.P3P	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN	Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.	3							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				ATCTCTTCATGGGGGTCATGG	0.602													4	30					0	0	1	0	0	C	41486324	G	C	41486324	2	2	330	1	0	0	0	0	0	0	0	1	14738	1335	47	4		4	SLFNL1	1	41486324	Silent	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08	17790268	41486324	207764297	3	5603											
NFIA	4774	broad.mit.edu	37	chr1	61743213	61743213	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagtcaatctgaaagtcCcagccagccaagtgacgctg	9	12	3	2			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:61743213C>G	uc010oos.2	+	3	798	c.716C>G	c.(715-717)cCc>cGc	p.P239R	NFIA_uc001czy.3_Missense_Mutation_p.P186R|NFIA_uc001czw.3_Missense_Mutation_p.P194R|NFIA_uc001czv.3_Missense_Mutation_p.P194R	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	194					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TCTGAAAGTCCCAGCCAGCCA	0.458													22	46					0	0	1	0	0	G	61743213	C	G	61743213	3	3	330	1	0	0	0	0	1	0	0	0	10370	623	22	4	737	4	NFIA	1	61743213	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	20256889	61743213	187507408	4	5604											
TTN	7273	broad.mit.edu	37	chr2	179474597	179474597	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcacccttagcaatcttctCtatgatgtagcccattatct	4	12	4	1			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr2:179474597C>G	uc021vsy.1	-	220	44074	c.43849G>C	c.(43849-43851)Gag>Cag	p.E14617Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8312Q|TTN_uc021vta.1_Missense_Mutation_p.E8245Q|TTN_uc021vtb.1_Missense_Mutation_p.E8120Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15544	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAATCTTCTCTATGATGTAG	0.438													9	296					0	0	1	0	0	G	179474597	C	G	179474597	3	3	330	1	0	0	0	0	1	0	0	0	16732	922	32	4	56504	4	TTN	2	179474597	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		179474597	63724776	5	5605											
GPR98	84059	broad.mit.edu	37	chr5	90074772	90074772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacagcggaagcaggcttgGattttgttcctgcagcaggg	16	8	0	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr5:90074772G>A	uc003kju.3	+	63	13036	c.12940G>A	c.(12940-12942)Gat>Aat	p.D4314N	GPR98_uc003kjt.3_Missense_Mutation_p.D2020N|GPR98_uc003kjw.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4314	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCAGGCTTGGATTTTGTTCC	0.493													8	114					0	0	1	0	0	A	90074772	G	A	90074772	3	1	330	1	0	0	0	0	1	0	0	0	6721	1174	41	2	13194	2	GPR98	5	90074772	Missense_Mutation	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08		90074772	90840488	6	5606											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	45					0	0	1	0	0	T	140453136	A	T	140453136	3	4	330	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DO-01A-11D-A19J-08		140453136	18685527	7	5607											
HTRA4	203100	broad.mit.edu	37	chr8	38831929	38831929	+	Frame_Shift_Del	DEL	C	C	-													gtctgccagcccacgcgctgCcccgcgctgcccacctgcgc							TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:38831929delC	uc003xmj.3	+	0	262	c.147delC	c.(145-147)tgcfs	p.C49fs		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	49	IGFBP N-terminal.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCACGCGCTGCCCCGCGCTGC	0.746													2	4	---	---	---	---						-	38831929	C	-	38831929	7	5	330	1	0	1	0	1	0	0	0	0	7456	747	26	0	149	0	HTRA4	8	38831929	Frame_Shift_Del	DEL	C	TCGA-ET-A3DO-01A-11D-A19J-08		38831929	107532093	8	5608											
PLEC	5339	broad.mit.edu	37	chr8	145009393	145009393	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggagccgcgtcactcCcaggtcccgctccgccacag	11	19	1	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:145009393C>A	uc003zaf.1	-	6	1272	c.1102G>T	c.(1102-1104)Gga>Tga	p.G368*	PLEC_uc003zab.1_Nonsense_Mutation_p.G231*|PLEC_uc003zac.1_Nonsense_Mutation_p.G235*|PLEC_uc003zad.2_Nonsense_Mutation_p.G231*|PLEC_uc003zae.1_Nonsense_Mutation_p.G199*|PLEC_uc003zag.1_Nonsense_Mutation_p.G209*|PLEC_uc003zah.2_Nonsense_Mutation_p.G217*|PLEC_uc003zaj.2_Nonsense_Mutation_p.G258*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	368	Actin-binding.|CH 2.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGTCACTCCCAGGTCCCGC	0.657													4	24					0	0	1	0	0	A	145009393	C	A	145009393	4	1	330	1	0	0	0	0	0	1	0	0	12052	632	22	4	13056	4	PLEC	8	145009393	Nonsense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	106177464	145009393	1354629	9	5609											
GALT	2592	broad.mit.edu	37	chr9	34649475	34649475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcacgctcattactaccctCcgctcctgcgctctgccact	6	19	2	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr9:34649475C>T	uc003zve.3	+	9	1040	c.973C>T	c.(973-975)Ccg>Tcg	p.P325S	GALT_uc003zvf.3_Missense_Mutation_p.P216S|IL11RA_uc003zvi.3_5'Flank|IL11RA_uc011loq.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	325			P -> L (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTACTACCCTCCGCTCCTGCG	0.577									Galactosemia				5	108					0	0	1	0	0	T	34649475	C	T	34649475	3	4	330	1	0	0	0	0	1	0	0	0	6230	855	30	2	1011	2	GALT	9	34649475	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		34649475	106563956	10	5610											
LIG4	3981	broad.mit.edu	37	chr13	108861705	108861705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtgctcaataattccaaTaactttcttcatctttgggg	6	8	4	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr13:108861705T>C	uc001vqn.3	-	1	2185	c.1912A>G	c.(1912-1914)Att>Gtt	p.I638V	LIG4_uc001vqo.3_Missense_Mutation_p.I638V|LIG4_uc010agf.3_Missense_Mutation_p.I638V|LIG4_uc001vqp.3_Missense_Mutation_p.I638V|LIG4_uc010agg.1_Missense_Mutation_p.I571V|LIG4_uc021rmk.1_Missense_Mutation_p.I638V	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	638					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATAATTCCAATAACTTTCTTC	0.358								Non-homologous end-joining					26	51					0	0	1	0	0	C	108861705	T	C	108861705	3	2	330	1	0	0	0	0	1	0	0	0	8783	1406	49	3	827	3	LIG4	13	108861705	Missense_Mutation	SNP	T	TCGA-ET-A3DO-01A-11D-A19J-08		108861705	6308173	11	5611											
CGNL1	84952	broad.mit.edu	37	chr15	57730273	57730273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagactcgcaagtgatgatAcccaaaaatcaaggagttcc	9	9	1	3			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr15:57730273A>G	uc010bfw.3	+	2	269	c.76A>G	c.(76-78)Acc>Gcc	p.T26A	CGNL1_uc002aeg.3_Missense_Mutation_p.T26A	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	26	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAGTGATGATACCCAAAAATC	0.483													12	169					0	0	1	0	0	G	57730273	A	G	57730273	3	3	330	1	0	0	0	0	1	0	0	0	3304	391	14	3	78	3	CGNL1	15	57730273	Missense_Mutation	SNP	A	TCGA-ET-A3DO-01A-11D-A19J-08		57730273	44801119	12	5612											
TMEM204	79652	broad.mit.edu	37	chr16	1591953	1591953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcgcgcctgcaacctGgtggccacggccgcgctcac	13	16	1	1			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr16:1591953G>A	uc002cmc.2	+	2	710	c.312G>A	c.(310-312)ctG>ctA	p.L104L	IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Silent_p.L104L|TMEM204_uc010brr.1_Silent_p.L104L	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	Homo sapiens transmembrane protein 204 (TMEM204), mRNA.	104					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CCTGCAACCTGGTGGCCACGG	0.701													3	35					0	0	1	0	0	A	1591953	G	A	1591953	2	1	330	1	0	0	0	0	0	0	0	1	16126	1335	47	2		2	TMEM204	16	1591953	Silent	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08		1591953	88762800	13	5613											
GPR179	440435	broad.mit.edu	37	chr17	36487270	36487270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctgcctggccagggcctCggggaattccgccaggtacc	15	14	0	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr17:36487270C>T	uc002hpz.3	-	10	2203	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	728						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCCAGGGCCTCGGGGAATTCC	0.687													3	25					0	0	1	0	0	T	36487270	C	T	36487270	3	4	330	1	0	0	0	0	1	0	0	0	6674	893	31	1	4925	1	GPR179	17	36487270	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		36487270	44707940	14	5614											
NLRP4	147945	broad.mit.edu	37	chr19	56363698	56363698	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagatggatagaaaggatctCtgcatgaaggtcatgaggga	14	4	2	4			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr19:56363698C>T	uc002qmd.4	+	1	674	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	84	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAGGATCTCTGCATGAAGG	0.443													4	60					0	0	1	0	0	T	56363698	C	T	56363698	2	4	330	1	0	0	0	0	0	0	0	1	10479	900	32	2		2	NLRP4	19	56363698	Silent	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		56363698	2765285	15	5615											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46067139	46067139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgtgtgcccgtctcctCctgctgtgcccccacctcct	8	20	1	0			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr21:46067139C>T	uc002zfr.4	+	0	809	c.764C>T	c.(763-765)tCc>tTc	p.S255F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	249						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCGTCTCCTCCTGCTGTGCC	0.701													8	78					0	0	1	0	0	T	46067139	C	T	46067139	3	4	330	1	0	0	0	0	1	0	0	0	8507	855	30	2	766	2	KRTAP10-11	21	46067139	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		46067139	2062756	16	5616											
DCX	1641	broad.mit.edu	37	chrX	110653418	110653418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacggtcagaggacacagcgTacacaatccccttgaagtag	10	11	1	2			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:110653418T>C	uc011msv.2	-	1	624	c.452A>G	c.(451-453)tAc>tGc	p.Y151C	DCX_uc004epd.3_Missense_Mutation_p.Y151C|DCX_uc004epe.3_Missense_Mutation_p.Y70C|DCX_uc004epf.3_Missense_Mutation_p.Y70C|DCX_uc004epg.3_Missense_Mutation_p.Y70C	NM_178152	NP_835365	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 2, mRNA.	151	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.V150M(1)|p.Y151Y(1)|p.Y151*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGACACAGCGTACACAATCCC	0.527													6	108					0	0	1	0	0	C	110653418	T	C	110653418	3	2	330	1	0	0	0	0	1	0	0	0	4318	1638	57	3	912	3	DCX	23	110653418	Missense_Mutation	SNP	T	TCGA-ET-A3DO-01A-11D-A19J-08		110653418	44617142	17	5617											
SLC25A43	203427	broad.mit.edu	37	chrX	118585975	118585975	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctgtttcctgtcaggctCagagcccctacctcccacac	6	18	3	1			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:118585975C>T	uc004erd.3	+	3	803	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	SLC25A43_uc004erc.2_Non-coding_Transcript|SLC25A43_uc011mtt.2_Missense_Mutation_p.S174L	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	Homo sapiens solute carrier family 25, member 43 (SLC25A43), nuclear gene encoding mitochondrial protein, mRNA.	232					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTGTCAGGCTCAGAGCCCCTA	0.532													8	69					0	0	1	0	0	T	118585975	C	T	118585975	4	4	330	1	0	0	0	0	0	1	0	0	14508	827	29	2	708	2	SLC25A43	23	118585975	Nonsense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	7932557	118585975	36684585	18	5618											
ODZ1	10178	broad.mit.edu	37	chrX	123637463	123637463	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaccagcctcctaggttaGaagcatccatctcaaaacct	6	13	1	2			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:123637463G>A	uc010nqy.3	-	18	3456	c.3392C>T	c.(3391-3393)tCt>tTt	p.S1131F	ODZ1_uc011muj.2_Missense_Mutation_p.S1130F|ODZ1_uc004euj.3_Missense_Mutation_p.S1131F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1131					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.D1131H(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCCTAGGTTAGAAGCATCCAT	0.378													14	250					0	0	1	0	0	A	123637463	G	A	123637463	3	1	330	1	0	0	0	0	1	0	0	0	10834	942	33	2	4862	2	ODZ1	23	123637463	Missense_Mutation	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08	5051488	123637463	31633097	19	5619											
MAGEA1	4100	broad.mit.edu	37	chrX	152482113	152482113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcctctctcaaagctgCttcacgcagggatgggaaga	10	12	3	1			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:152482113C>T	uc004fhf.2	-	2	1118	c.898G>A	c.(898-900)Gca>Aca	p.A300T	MAGEA1_uc022chs.1_Missense_Mutation_p.A300T	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	300	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAAGCTGCTTCACGCAGG	0.577													47	99					0	0	1	0	0	T	152482113	C	T	152482113	3	4	330	1	0	0	0	0	1	0	0	0	9163	797	28	2	35	2	MAGEA1	23	152482113	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	28844650	152482113	2788447	20	5620											
PLEKHN1	84069	broad.mit.edu	37	chr1	907717	907717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccagctacgaggactaCggtcactggctgctgtgcct	13	13	1	0			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr1:907717C>T	uc001ace.3	+	8	1106	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	PLEKHN1_uc001acd.3_Silent_p.Y305Y|PLEKHN1_uc001acf.3_Silent_p.Y317Y	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	357	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGAGGACTACGGTCACTGGC	0.687													3	47					0	0	1	0	0	T	907717	C	T	907717	2	4	331	1	0	0	0	0	0	0	0	1	12083	547	19	1		1	PLEKHN1	1	907717	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		907717	248342904	1	5621											
LIMD1	8994	broad.mit.edu	37	chr3	45636405	45636405	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgacctgggcctggaggccAgtaaattcatcgaggacctg	13	11	1	0			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr3:45636405A>T	uc003coq.3	+	0	83	c.34A>T	c.(34-36)Agt>Tgt	p.S12C		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	12					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGAGGCCAGTAAATTCAT	0.557													11	30					0	0	1	0	0	T	45636405	A	T	45636405	3	4	331	1	0	0	0	0	1	0	0	0	8798	188	7	5	36	5	LIMD1	3	45636405	Missense_Mutation	SNP	A	TCGA-ET-A3DP-01A-11D-A21A-08		45636405	152386025	2	5622											
TRAIP	10293	broad.mit.edu	37	chr3	49866894	49866894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaggaaaaggatacaggCtggatgaattttgtccggcc	12	8	1	1	rs146306196	byFrequency	TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr3:49866894C>T	uc003cxs.1	-	13	1390	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	TRAIP_uc010hla.1_Silent_p.Q329Q	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	428	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGATACAGGCTGGATGAATT	0.577													22	35					0	0	1	0	0	T	49866894	C	T	49866894	2	4	331	1	0	0	0	0	0	0	0	1	16445	796	28	2		2	TRAIP	3	49866894	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08	4230489	49866894	148155536	3	5623											
KIAA1211	57482	broad.mit.edu	37	chr4	57180750	57180752	+	In_Frame_Del	DEL	AGG	AGG	-													cgcggaggagctcaaaaggcAggaggaggaggaggctgagg							TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr4:57180750_57180752delAGG	uc003hbk.2	+	7	1473_1475	c.1082_1084delAGG	c.(1081-1086)caggag>cag	p.E365del	KIAA1211_uc010iha.2_In_Frame_Del_p.E358del|KIAA1211_uc011bzz.1_In_Frame_Del_p.E275del|KIAA1211_uc003hbm.1_In_Frame_Del_p.E251del	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	365	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ctcaaaaggcaggaggaggagga	0.704													2	4	---	---	---	---						-	57180752	AGG	-	57180750	7	5	331	1	0	1	0	1	0	0	0	0	8215	188	7	0	1100	0	KIAA1211	4	57180750	In_Frame_Del	DEL	AGG	TCGA-ET-A3DP-01A-11D-A21A-08		57180750	133973526	4	5624											
COL11A2	1302	broad.mit.edu	37	chr6	33139342	33139342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtcgggccaatggggcCcttctcaccctgtgggacag	14	14	1	0			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr6:33139342C>T	uc003ocx.1	-	42	3388	c.3160G>A	c.(3160-3162)Ggc>Agc	p.G1054S	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G968S|COL11A2_uc003ocz.1_Missense_Mutation_p.G947S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1054	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAATGGGGCCCTTCTCACCC	0.617													7	14					0	0	1	0	0	T	33139342	C	T	33139342	3	4	331	1	0	0	0	0	1	0	0	0	3668	623	22	2	2146	2	COL11A2	6	33139342	Missense_Mutation	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		33139342	137975725	5	5625											
TULP4	56995	broad.mit.edu	37	chr6	158923511	158923511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtccctcagccctgcaGcagtgccaccctgaaccgcc	10	18	1	1			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr6:158923511G>A	uc003qrf.3	+	12	4173	c.2816G>A	c.(2815-2817)aGc>aAc	p.S939N	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	939					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCCTGCAGCAGTGCCACC	0.672													4	128					0	0	1	0	0	A	158923511	G	A	158923511	3	1	331	1	0	0	0	0	1	0	0	0	16773	971	34	2	2866	2	TULP4	6	158923511	Missense_Mutation	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08	125784169	158923511	12191556	6	5626											
PCLO	27445	broad.mit.edu	37	chr7	82584499	82584499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttgtatttgtgtgtttTatgcatcatttcttcataca	6	6	3	0			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr7:82584499T>C	uc003uhx.2	-	4	6059	c.5770A>G	c.(5770-5772)Aaa>Gaa	p.K1924E	PCLO_uc003uhv.2_Missense_Mutation_p.K1924E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1855					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTGTGTTTTATGCATCATT	0.358													4	4					0	0	1	0	0	C	82584499	T	C	82584499	3	2	331	1	0	0	0	0	1	0	0	0	11583	1763	61	3	9759	3	PCLO	7	82584499	Missense_Mutation	SNP	T	TCGA-ET-A3DP-01A-11D-A21A-08		82584499	76554164	7	5627											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	20					0	0	1	0	0	T	140453136	A	T	140453136	3	4	331	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DP-01A-11D-A21A-08	57868637	140453136	18685527	8	5628											
TCF7L2	6934	broad.mit.edu	37	chr10	114911638	114911638	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaaccagatccttgggCggagggtaggtgacgccctt	13	12	1	2			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr10:114911638C>A	uc021pyi.1	+	9	1663	c.1156C>A	c.(1156-1158)Cgg>Agg	p.R386R	TCF7L2_uc001lah.3_Silent_p.R368R|TCF7L2_uc010qro.2_Silent_p.R363R|TCF7L2_uc001lae.4_Silent_p.R386R|TCF7L2_uc010qrm.2_Silent_p.R386R|TCF7L2_uc010qrn.2_Silent_p.R329R|TCF7L2_uc021pyg.1_Silent_p.R102R|TCF7L2_uc021pyh.1_Silent_p.R368R|TCF7L2_uc021pyj.1_Silent_p.R386R|TCF7L2_uc021pyk.1_Silent_p.R368R|TCF7L2_uc021pyl.1_Silent_p.R368R|TCF7L2_uc010qrp.2_Silent_p.R363R|TCF7L2_uc021pym.1_Silent_p.R359R|TCF7L2_uc021pyn.1_Silent_p.R391R|TCF7L2_uc021pyo.1_Silent_p.R391R|TCF7L2_uc021pyp.1_Silent_p.R382R|TCF7L2_uc010qrq.2_Silent_p.R359R|TCF7L2_uc001lac.4_Silent_p.R363R|TCF7L2_uc010qrk.2_Silent_p.R363R|TCF7L2_uc001lad.4_Silent_p.R359R|TCF7L2_uc001lag.4_Silent_p.R410R|TCF7L2_uc001laf.4_Silent_p.R363R|TCF7L2_uc010qrl.2_Silent_p.R363R|TCF7L2_uc010qrr.2_Silent_p.R301R|TCF7L2_uc010qrs.2_Silent_p.R257R|TCF7L2_uc010qrt.2_Silent_p.R257R|TCF7L2_uc010qru.2_Silent_p.R285R|TCF7L2_uc010qrv.2_Silent_p.R203R|TCF7L2_uc010qrw.2_Silent_p.R90R|TCF7L2_uc010qrx.2_Silent_p.R243R|Mir_652_uc021pyq.1_5'Flank	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	386	Mediates interaction with MAD2L2.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.L386L(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GATCCTTGGGCGGAGGGTAGG	0.547			T	VTI1A	colorectal								3	58					0	0	1	0	0	A	114911638	C	A	114911638	2	1	331	1	0	0	0	0	0	0	0	1	15695	759	27	4		4	TCF7L2	10	114911638	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		114911638	20623109	9	5629											
TSSK4	283629	broad.mit.edu	37	chr14	24676436	24676436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccaagatggtgccttcTaaccagcctgtgggttgtag	12	9	1	1			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr14:24676436T>C	uc001wnh.3	+	2	759	c.555T>C	c.(553-555)tcT>tcC	p.S185S	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Silent_p.S99S|TSSK4_uc001wnf.3_Silent_p.S105S|TSSK4_uc001wng.3_Silent_p.S175S	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	175	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TGGTGCCTTCTAACCAGCCTG	0.502													8	134					0	0	1	0	0	C	24676436	T	C	24676436	2	2	331	1	0	0	0	0	0	0	0	1	16668	1509	53	3		3	TSSK4	14	24676436	Silent	SNP	T	TCGA-ET-A3DP-01A-11D-A21A-08		24676436	82673104	10	5630											
DNAH2	146754	broad.mit.edu	37	chr17	7722542	7722542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggcttaccgcccatgcGcccagcgggcatcaatcctg	12	16	1	0			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:7722542G>A	uc002giu.1	+	70	10845	c.10831G>A	c.(10831-10833)Gcc>Acc	p.A3611T	DNAH2_uc010cnm.1_Missense_Mutation_p.A549T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3611					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A3611T(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGCCCATGCGCCCAGCGGGC	0.607													5	102					0	0	1	0	0	A	7722542	G	A	7722542	3	1	331	1	0	0	0	0	1	0	0	0	4602	1087	38	1	11113	1	DNAH2	17	7722542	Missense_Mutation	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08		7722542	73472668	11	5631											
FBXL20	84961	broad.mit.edu	37	chr17	37431233	37431233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtttacctaagccgtgGgcagttctgacctagagcat	10	9	1	2			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:37431233G>A	uc002hrt.3	-	9	1071	c.817C>T	c.(817-819)Cca>Tca	p.P273S	FBXL20_uc010cvu.3_Missense_Mutation_p.P241S	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	273						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CTAAGCCGTGGGCAGTTCTGA	0.408													20	49					0	0	1	0	0	A	37431233	G	A	37431233	3	1	331	1	0	0	0	0	1	0	0	0	5717	1232	43	2	517	2	FBXL20	17	37431233	Missense_Mutation	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08	29708691	37431233	43763977	12	5632											
SPAG9	9043	broad.mit.edu	37	chr17	49067105	49067105	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggatctgtaaagacatgctCtgtgtagacgccagtttggg	13	7	2	2			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:49067105C>A	uc002itc.3	-	20	2955	c.2746G>T	c.(2746-2748)Gag>Tag	p.E916*	SPAG9_uc002itd.3_Nonsense_Mutation_p.E906*|SPAG9_uc002itb.3_Nonsense_Mutation_p.E902*|SPAG9_uc002itf.3_Nonsense_Mutation_p.E737*|SPAG9_uc002ita.3_Nonsense_Mutation_p.E759*|SPAG9_uc002ite.3_Nonsense_Mutation_p.E746*	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	916					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AAGACATGCTCTGTGTAGACG	0.478													4	36					0	0	1	0	0	A	49067105	C	A	49067105	4	1	331	1	0	0	0	0	0	1	0	0	14985	922	32	4	1259	4	SPAG9	17	49067105	Nonsense_Mutation	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08	11635872	49067105	32128105	13	5633											
ABCA5	23461	broad.mit.edu	37	chr17	67257831	67257831	+	Frame_Shift_Del	DEL	A	A	-													ttaaaattttcttaaaggtgAaagaagcaatataagtgaac							TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:67257831delA	uc002jif.2	-	23	4592	c.3374delT	c.(3373-3375)ttcfs	p.F1125fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.F91fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.F348fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.F42fs|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.F1125fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1125					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTTAAAGGTGAAAGAAGCAAT	0.264													2	4	---	---	---	---						-	67257831	A	-	67257831	7	5	331	1	0	1	0	1	0	0	0	0	35	246	9	0	1614	0	ABCA5	17	67257831	Frame_Shift_Del	DEL	A	TCGA-ET-A3DP-01A-11D-A21A-08	18190726	67257831	13937379	14	5634											
BAHCC1	57597	broad.mit.edu	37	chr17	79409285	79409285	+	Frame_Shift_Del	DEL	G	G	-													ctgcgctagccagctgtgcaGggggcatgctggggcggcct							TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:79409285delG	uc002kaf.2	+	3	724	c.724delG	c.(724-726)gggfs	p.G242fs	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	304							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CAGCTGTGCAGGGGGCATGCT	0.726													2	4	---	---	---	---						-	79409285	G	-	79409285	7	5	331	1	0	1	0	1	0	0	0	0	1296	1000	35	0	759	0	BAHCC1	17	79409285	Frame_Shift_Del	DEL	G	TCGA-ET-A3DP-01A-11D-A21A-08	12151454	79409285	1785925	15	5635											
ZMYND8	23613	broad.mit.edu	37	chr20	45891129	45891129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagggctttgggctgccGgataaactccctgcttgtcc	13	11	0	1			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr20:45891129G>A	uc010zxy.1	-	11	1627	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	ZMYND8_uc010ghq.1_Silent_p.S165S|ZMYND8_uc010ghr.1_Silent_p.S463S|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Silent_p.S488S|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Silent_p.S240S|ZMYND8_uc002xsx.1_Silent_p.S240S|ZMYND8_uc002xsy.1_Silent_p.S463S|ZMYND8_uc002xsz.1_Silent_p.S425S|ZMYND8_uc002xta.1_Silent_p.S488S|ZMYND8_uc002xtb.1_Silent_p.S508S|ZMYND8_uc002xss.2_Silent_p.S488S|ZMYND8_uc010zxz.1_Silent_p.S483S|ZMYND8_uc002xtc.1_Silent_p.S508S|ZMYND8_uc002xtd.1_Silent_p.S483S|ZMYND8_uc002xte.1_Silent_p.S488S|ZMYND8_uc010zya.1_Silent_p.S488S|ZMYND8_uc002xtf.1_Silent_p.S508S|ZMYND8_uc002xtg.3_Silent_p.S482S|ZMYND8_uc010ghs.2_Silent_p.S482S	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	488							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGGGCTGCCGGATAAACTCC	0.488													4	51					0	0	1	0	0	A	45891129	G	A	45891129	2	1	331	1	0	0	0	0	0	0	0	1	17708	1103	39	1		1	ZMYND8	20	45891129	Silent	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08		45891129	17134391	16	5636											
PDCD6	10016	broad.mit.edu	37	chr5	272944	272944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgcgagcctgccctgTtcacagtggataactttctg	11	12	2	0			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr5:272944T>C	uc010isw.1	+	1	320	c.316T>C	c.(316-318)Ttc>Ctc	p.F106L	PDCD6_uc003jas.3_Intron|PDCD6_uc003jat.1_Intron|PDCD6_uc003jau.1_Intron			O75340	PDCD6_HUMAN	Homo sapiens programmed cell death 6 (PDCD6), mRNA.	0	EF-hand 3.				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			GCCTGCCCTGTTCACAGTGGA	0.483													6	13					0	0	1	0	0	C	272944	T	C	272944	3	2	332	1	0	0	0	0	1	0	0	0	11623	1740	60	3		3	PDCD6	5	272944	Missense_Mutation	SNP	T	TCGA-ET-A3DQ-01A-11D-A19J-08		272944	180642316	1	5637											
CITED2	10370	broad.mit.edu	37	chr6	139694455	139694455	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcggcagcattgcagcGgggacgtgggccacggaggc	20	10	0	0			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr6:139694455G>T	uc021zfz.1	-	1	717	c.627C>A	c.(625-627)ccC>ccA	p.P209P	CITED2_uc021zga.1_Silent_p.P209P|CITED2_uc003qip.1_Silent_p.P209P|CITED2_uc021zgb.1_Silent_p.P209P	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	209					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GCATTGCAGCGGGGACGTGGG	0.647													12	84					0	0	1	0	0	T	139694455	G	T	139694455	2	4	332	1	0	0	0	0	0	0	0	1	3440	1103	39	4		4	CITED2	6	139694455	Silent	SNP	G	TCGA-ET-A3DQ-01A-11D-A19J-08		139694455	31420612	2	5638											
CASP7	840	broad.mit.edu	37	chr10	115481474	115481474	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagtgcttccgaagcctGggttttgacgtgattgtcta	11	8	2	2			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr10:115481474G>T	uc010qsa.2	+	3	655	c.567G>T	c.(565-567)ctG>ctT	p.L189L	CASP7_uc001lam.3_Silent_p.L104L|CASP7_uc001lan.3_Silent_p.L104L|CASP7_uc001lao.3_Silent_p.L137L|CASP7_uc001lap.3_Silent_p.L104L|CASP7_uc001laq.3_Silent_p.L104L|CASP7_uc010qsb.2_Silent_p.L79L			P55210	CASP7_HUMAN	Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant alpha, mRNA.	104					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TCCGAAGCCTGGGTTTTGACG	0.498													21	115					0	0	1	0	0	T	115481474	G	T	115481474	2	4	332	1	0	0	0	0	0	0	0	1	2676	1335	47	4		4	CASP7	10	115481474	Silent	SNP	G	TCGA-ET-A3DQ-01A-11D-A19J-08		115481474	20053273	3	5639											
ZMYND15	84225	broad.mit.edu	37	chr17	4643964	4643964	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagccttgagggccgctgcCggcagctggaggcccagatc	15	14	0	2			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr17:4643964C>A	uc002fyu.2	+	0	151	c.121C>A	c.(121-123)Cgg>Agg	p.R41R	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Silent_p.R41R|ZMYND15_uc002fyt.2_Silent_p.R41R	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	41							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGGCCGCTGCCGGCAGCTGGA	0.612													3	39					0	0	1	0	0	A	4643964	C	A	4643964	2	1	332	1	0	0	0	0	0	0	0	1	17705	643	23	4		4	ZMYND15	17	4643964	Silent	SNP	C	TCGA-ET-A3DQ-01A-11D-A19J-08		4643964	76551246	4	5640											
KLHL14	57565	broad.mit.edu	37	chr18	30350455	30350455	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgggccgtcagggtcacgtCgcaaaacagctgcttcctcc	11	15	2	0			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr18:30350455C>A	uc002kxm.1	-	1	488	c.100G>T	c.(100-102)Gac>Tac	p.D34Y		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	34	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGGGTCACGTCGCAAAACAGC	0.642													13	47					0	0	1	0	0	A	30350455	C	A	30350455	3	1	332	1	0	0	0	0	1	0	0	0	8370	884	31	4	1818	4	KLHL14	18	30350455	Missense_Mutation	SNP	C	TCGA-ET-A3DQ-01A-11D-A19J-08		30350455	47726793	5	5641											
NUP210L	91181	broad.mit.edu	37	chr1	154101784	154101784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctacaacatatatggtGcaatttgggagtccagacac	10	9	1	1			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr1:154101784G>A	uc001fdw.3	-	7	1119	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.C349C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	349						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATATATGGTGCAATTTGGGA	0.368													11	135					0	0	1	0	0	A	154101784	G	A	154101784	2	1	333	1	0	0	0	0	0	0	0	1	10761	1311	46	2		2	NUP210L	1	154101784	Silent	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		154101784	95148837	1	5642											
GPR113	165082	broad.mit.edu	37	chr2	26536378	26536378	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatggggcctgtgccacgTggccagccttggtgacattc	14	12	0	1			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr2:26536378T>G	uc002rhe.4	-	8	1340	c.1340A>C	c.(1339-1341)cAc>cCc	p.H447P	GPR113_uc010yky.1_Missense_Mutation_p.H378P|GPR113_uc002rhb.1_Missense_Mutation_p.H50P|GPR113_uc010eyk.1_Missense_Mutation_p.H248P|GPR113_uc002rhc.1_Missense_Mutation_p.H50P|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	447					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCCACGTGGCCAGCCTT	0.612													9	23					0	0	1	0	0	G	26536378	T	G	26536378	3	3	333	1	0	0	0	0	1	0	0	0	6630	1696	59	5	2008	5	GPR113	2	26536378	Missense_Mutation	SNP	T	TCGA-ET-A3DR-01A-11D-A19J-08		26536378	216662995	2	5643											
MED12L	116931	broad.mit.edu	37	chr3	151129080	151129080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagaccatgccacagggCtatacaatgtatgggacaca	10	11	0	1			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr3:151129080C>T	uc003eyp.3	+	38	5949	c.5820C>T	c.(5818-5820)ggC>ggT	p.G1940G	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1940	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCACAGGGCTATACAATGT	0.502													39	77					0	0	1	0	0	T	151129080	C	T	151129080	2	4	333	1	0	0	0	0	0	0	0	1	9429	784	28	2		2	MED12L	3	151129080	Silent	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		151129080	46893350	3	5644											
FBN2	2201	broad.mit.edu	37	chr5	127674746	127674746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagaaatcctgcactcGtcgatgtctaattcacaggg	10	10	3	1	rs78484531	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:127674746G>A	uc003kuu.3	-	25	3790	c.3351C>T	c.(3349-3351)gaC>gaT	p.D1117D	FBN2_uc003kuv.2_Silent_p.D1084D	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1117	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCTGCACTCGTCGATGTCTA	0.458													45	88					0	0	1	0	0	A	127674746	G	A	127674746	2	1	333	1	0	0	0	0	0	0	0	1	5703	1136	40	1		1	FBN2	5	127674746	Silent	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		127674746	53240514	4	5645											
HSPA4	3308	broad.mit.edu	37	chr5	132400700	132400700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttttggtcctaagaatCgttcaattggagcagcagct	9	8	2	1			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:132400700C>T	uc003kyj.3	+	1	417	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	46					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTAAGAATCGTTCAATTGG	0.343													6	157					0	0	1	0	0	T	132400700	C	T	132400700	3	4	333	1	0	0	0	0	1	0	0	0	7412	884	31	1	142	1	HSPA4	5	132400700	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08	4725954	132400700	48514560	5	5646											
SASH1	23328	broad.mit.edu	37	chr6	148840738	148840738	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctggatgaacggtccgccctCtactctggcgtgcacaagaa	11	13	2	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr6:148840738C>G	uc003qme.1	+	9	1393	c.918C>G	c.(916-918)ctC>ctG	p.L306L	SASH1_uc011eeb.1_Silent_p.L67L	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	306							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGTCCGCCCTCTACTCTGGCG	0.542													39	43					0	0	1	0	0	G	148840738	C	G	148840738	2	3	333	1	0	0	0	0	0	0	0	1	13848	900	32	4		4	SASH1	6	148840738	Silent	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		148840738	22274329	6	5647											
MLL5	55904	broad.mit.edu	37	chr7	104715089	104715089	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taatttttattttgtctgaaGatggtgataccagtgcaact	8	5	1	3			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr7:104715089G>T	uc003vcm.3	+	8	1091	c.557_splice	c.e8-1	p.D186_splice	MLL5_uc010lja.1_Splice_Site_p.D40_splice|MLL5_uc010ljb.1_Splice_Site_p.D186_splice|MLL5_uc003vcl.3_Splice_Site_p.D186_splice|MLL5_uc010ljc.3_Splice_Site_p.D186_splice|MLL5_uc003vco.1_5'Flank|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	186					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TTTGTCTGAAGATGGTGATAC	0.333													66	130					0	0	1	0	0	T	104715089	G	T	104715089	5	4	333	1	0	0	0	0	0	0	1	0	9624	956	33	4	578	4	MLL5	7	104715089	Splice_Site	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		104715089	54423574	7	5648											
APBA1	320	broad.mit.edu	37	chr9	72082746	72082746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtcctcaccttgatcCtgcttacggcttcctgggcc	9	15	1	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr9:72082746C>T	uc004ahh.2	-	4	1751	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	492	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.R492S(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CACCTTGATCCTGCTTACGGC	0.527													8	235					0	0	1	0	0	T	72082746	C	T	72082746	3	4	333	1	0	0	0	0	1	0	0	0	756	681	24	2	1074	2	APBA1	9	72082746	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		72082746	69130685	8	5649											
PRKG1	5592	broad.mit.edu	37	chr10	54011361	54011361	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagcggctttcttcgccaacCtgaagctgtctgatttcaac	8	12	3	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr10:54011361C>G	uc001jjo.3	+	9	1225	c.1108C>G	c.(1108-1110)Ctg>Gtg	p.L370V	PRKG1_uc001jjm.3_Missense_Mutation_p.L355V|PRKG1_uc009xow.2_Missense_Mutation_p.L73V	NM_006258	NP_006249	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 2, mRNA.	355	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTTCGCCAACCTGAAGCTGTC	0.413													27	90					0	0	1	0	0	G	54011361	C	G	54011361	3	3	333	1	0	0	0	0	1	0	0	0	12522	680	24	4	1416	4	PRKG1	10	54011361	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		54011361	81523386	9	5650											
SLC25A45	283130	broad.mit.edu	37	chr11	65147382	65147382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcaatcaacgatgccccGgtaggtggtctgggtctgca	13	11	3	0			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr11:65147382G>A	uc001odr.1	-	3	313	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SLC25A45_uc009yqi.1_Missense_Mutation_p.R37W|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001ods.1_5'UTR|SLC25A45_uc001odt.1_5'UTR	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	37					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACGATGCCCCGGTAGGTGGTC	0.627													24	58					0	0	1	0	0	A	65147382	G	A	65147382	3	1	333	1	0	0	0	0	1	0	0	0	14510	1115	39	1	773	1	SLC25A45	11	65147382	Missense_Mutation	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		65147382	69859134	10	5651											
XPO4	64328	broad.mit.edu	37	chr13	21374986	21374986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgatcatacagttttTcatccaccaggagataagtc	7	10	2	3			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:21374986T>C	uc001unq.4	-	13	1997	c.1961A>G	c.(1960-1962)gAa>gGa	p.E654G		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	654					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATACAGTTTTTCATCCACCAG	0.368													21	293					0	0	1	0	0	C	21374986	T	C	21374986	3	2	333	1	0	0	0	0	1	0	0	0	17443	1783	62	3	1534	3	XPO4	13	21374986	Missense_Mutation	SNP	T	TCGA-ET-A3DR-01A-11D-A19J-08		21374986	93794892	11	5652											
B3GALTL	145173	broad.mit.edu	37	chr13	31848757	31848757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacattccattcttttctaCcgctttgtgtgagtaacaga	6	11	2	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:31848757C>A	uc010aaz.3	+	8	882	c.772C>A	c.(772-774)Ccg>Acg	p.P258T	B3GALTL_uc001utn.4_Non-coding_Transcript	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	258					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTCTTTTCTACCGCTTTGTGT	0.413													5	131					0	0	1	0	0	A	31848757	C	A	31848757	3	1	333	1	0	0	0	0	1	0	0	0	1252	507	18	4	806	4	B3GALTL	13	31848757	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08	10473771	31848757	83321121	12	5653											
DCAKD	79877	broad.mit.edu	37	chr17	43101857	43101857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggctggcaatggcagCgagccctgtgaggaccccaa	16	11	0	1	rs146466512	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:43101857C>T	uc010daa.1	-	4	812	c.640G>A	c.(640-642)Gct>Act	p.A214T	DCAKD_uc010dab.1_Missense_Mutation_p.A214T|DCAKD_uc002ihx.2_Missense_Mutation_p.A214T	NM_001128631	NP_079095	Q8WVC6	DCAKD_HUMAN	Homo sapiens dephospho-CoA kinase domain containing (DCAKD), transcript variant 2, mRNA.	214					coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				GCAATGGCAGCGAGCCCTGTG	0.617													23	77					0	0	1	0	0	T	43101857	C	T	43101857	3	4	333	1	0	0	0	0	1	0	0	0	4279	768	27	1	59	1	DCAKD	17	43101857	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		43101857	38093353	13	5654											
B4GALNT2	124872	broad.mit.edu	37	chr17	47247083	47247083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaccatctccaatgtgCcgcataaaggtgtgagggca	11	10	1	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:47247083C>T	uc002ion.2	+	10	1753	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	B4GALNT2_uc010wlt.1_Missense_Mutation_p.A479V|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A505V	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	565					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTCCAATGTGCCGCATAAAGG	0.512													4	56					0	0	1	0	0	T	47247083	C	T	47247083	3	4	333	1	0	0	0	0	1	0	0	0	1267	739	26	2	1754	2	B4GALNT2	17	47247083	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08	4145226	47247083	33948127	14	5655											
KIAA0195	9772	broad.mit.edu	37	chr17	73489653	73489653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacggagctgacatctAccctctctcgggatctgaca	11	13	3	2			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:73489653A>G	uc010wsa.2	+	15	2390	c.2198A>G	c.(2197-2199)tAc>tGc	p.Y733C	KIAA0195_uc002jnz.4_Missense_Mutation_p.Y723C|KIAA0195_uc010wsb.2_Missense_Mutation_p.Y363C|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	723					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGACATCTACCCTCTCTCG	0.602													44	72					0	0	1	0	0	G	73489653	A	G	73489653	3	3	333	1	0	0	0	0	1	0	0	0	8160	391	14	3	2230	3	KIAA0195	17	73489653	Missense_Mutation	SNP	A	TCGA-ET-A3DR-01A-11D-A19J-08	26242570	73489653	7705557	15	5656											
KLHL4	56062	broad.mit.edu	37	chrX	86919891	86919891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacggacatacttatttgAacacagttgagtcatatgat	8	6	1	4			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chrX:86919891A>G	uc004efa.2	+	9	2235	c.2053A>G	c.(2053-2055)Aac>Gac	p.N685D	KLHL4_uc004efb.2_Missense_Mutation_p.N685D	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	685						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACTTATTTGAACACAGTTGA	0.378													36	42					0	0	1	0	0	G	86919891	A	G	86919891	3	3	333	1	0	0	0	0	1	0	0	0	8391	246	9	3	2091	3	KLHL4	23	86919891	Missense_Mutation	SNP	A	TCGA-ET-A3DR-01A-11D-A19J-08		86919891	68350669	16	5657											
GOLGB1	2804	broad.mit.edu	37	chr3	121415620	121415620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgcttgggagttttccGtctatggattcccttacttg	10	9	2	0			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr3:121415620G>A	uc010hrc.3	-	12	3876	c.3750C>T	c.(3748-3750)gaC>gaT	p.D1250D	GOLGB1_uc003eei.4_Silent_p.D1245D|GOLGB1_uc003eej.4_Silent_p.D1211D|GOLGB1_uc021xcy.1_Silent_p.D1170D|GOLGB1_uc011bjm.1_Silent_p.D1131D|GOLGB1_uc010hrd.1_Silent_p.D1209D	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1245					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.D1245D(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGAGTTTTCCGTCTATGGATT	0.438													21	72					0	0	1	0	0	A	121415620	G	A	121415620	2	1	334	1	0	0	0	0	0	0	0	1	6565	1136	40	1		1	GOLGB1	3	121415620	Silent	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		121415620	76606810	1	5658											
C5orf42	65250	broad.mit.edu	37	chr5	37176053	37176053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgcattgattgaggaGtggtatgcccaggatgtgaa	13	6	0	3			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr5:37176053G>A	uc011cpa.1	-	30	6167	c.5936C>T	c.(5935-5937)aCt>aTt	p.T1979I	C5orf42_uc011coy.1_Missense_Mutation_p.T479I|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.T1054I|C5orf42_uc003jkr.1_Missense_Mutation_p.T12I	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1979										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGATTGAGGAGTGGTATGCCC	0.333													8	159					0	0	1	0	0	A	37176053	G	A	37176053	3	1	334	1	0	0	0	0	1	0	0	0	2301	1029	36	2	3745	2	C5orf42	5	37176053	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		37176053	143739207	2	5659											
ZNF251	90987	broad.mit.edu	37	chr8	145947459	145947459	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtccatctgctgtgaggctgGagccatgaacaaaggctgga	14	9	1	2			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr8:145947459G>C	uc003zdv.4	-	4	1842	c.1586C>G	c.(1585-1587)tCc>tGc	p.S529C		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGTGAGGCTGGAGCCATGAAC	0.522													3	59					0	0	1	0	0	C	145947459	G	C	145947459	3	2	334	1	0	0	0	0	1	0	0	0	17793	1174	41	4	433	4	ZNF251	8	145947459	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		145947459	416563	3	5660											
LRSAM1	90678	broad.mit.edu	37	chr9	130224635	130224635	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattgccgcagatgctggctCacgttcgaaccctggaggta	13	11	1	1			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr9:130224635C>T	uc004brb.2	+	8	883	c.511C>T	c.(511-513)Cac>Tac	p.H171Y	LRSAM1_uc010mxk.2_Missense_Mutation_p.H171Y|LRSAM1_uc004brc.2_Missense_Mutation_p.H171Y|LRSAM1_uc004brd.2_Missense_Mutation_p.H171Y	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	171					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GATGCTGGCTCACGTTCGAAC	0.577													14	52					0	0	1	0	0	T	130224635	C	T	130224635	3	4	334	1	0	0	0	0	1	0	0	0	9043	826	29	2	537	2	LRSAM1	9	130224635	Missense_Mutation	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08		130224635	10988796	4	5661											
BTAF1	9044	broad.mit.edu	37	chr10	93748982	93748982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttacaacagttagatagTaaacgacagcaggtccaaat	9	7	0	1			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr10:93748982T>C	uc001khr.3	+	19	2597	c.2499T>C	c.(2497-2499)agT>agC	p.S833S	BTAF1_uc001khs.1_Silent_p.S503S|BTAF1_uc001kht.1_Silent_p.S271S	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	833					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGTTAGATAGTAAACGACAGC	0.378													23	44					0	0	1	0	0	C	93748982	T	C	93748982	2	2	334	1	0	0	0	0	0	0	0	1	1536	1635	57	3		3	BTAF1	10	93748982	Silent	SNP	T	TCGA-ET-A3DS-01A-11D-A19J-08		93748982	41785765	5	5662											
QSER1	79832	broad.mit.edu	37	chr11	32953853	32953853	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatctatcaaattcaagtgTagttaattttcaggaaacaa	5	5	4	0			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr11:32953853T>G	uc001mty.3	+	3	929	c.662T>G	c.(661-663)gTa>gGa	p.V221G	QSER1_uc001mtz.1_Missense_Mutation_p.V221G|QSER1_uc001mua.3_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	221	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATTCAAGTGTAGTTAATTTT	0.438													9	37					0	0	1	0	0	G	32953853	T	G	32953853	3	3	334	1	0	0	0	0	1	0	0	0	12882	1638	57	5	668	5	QSER1	11	32953853	Missense_Mutation	SNP	T	TCGA-ET-A3DS-01A-11D-A19J-08		32953853	102052663	6	5663											
CCDC62	84660	broad.mit.edu	37	chr12	123276650	123276650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagagaaaagttgcctgcacGatgaattgctttttactggt	10	6	0	2			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr12:123276650G>T	uc001udc.3	+	5	916	c.754G>T	c.(754-756)Gat>Tat	p.D252Y	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_Missense_Mutation_p.D67Y	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	252						cytoplasm|nucleus		p.D252N(3)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTGCCTGCACGATGAATTGCT	0.393													17	85					0	0	1	0	0	T	123276650	G	T	123276650	3	4	334	1	0	0	0	0	1	0	0	0	2833	1058	37	4	776	4	CCDC62	12	123276650	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		123276650	10575245	7	5664											
TSHR	7253	broad.mit.edu	37	chr14	81609809	81609809	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggggatgtacctgctcctCatcgcctctgtagacctcta	9	13	3	1			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr14:81609809C>A	uc001xvd.1	+	9	1563	c.1407C>A	c.(1405-1407)ctC>ctA	p.L469L		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	469					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACCTGCTCCTCATCGCCTCTG	0.537			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						42	69					0	0	1	0	0	A	81609809	C	A	81609809	2	1	334	1	0	0	0	0	0	0	0	1	16619	813	29	4		4	TSHR	14	81609809	Silent	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08		81609809	25739731	8	5665											
KCNAB3	9196	broad.mit.edu	37	chr17	7829388	7829388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtctcacctccaacctttGctcttgaggatgttccctag	7	14	2	1			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr17:7829388G>A	uc002gjm.1	-	4	438	c.438C>T	c.(436-438)agC>agT	p.S146S	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	146						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCCAACCTTTGCTCTTGAGGA	0.478													11	118					0	0	1	0	0	A	7829388	G	A	7829388	2	1	334	1	0	0	0	0	0	0	0	1	8011	1310	46	2		2	KCNAB3	17	7829388	Silent	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		7829388	73365822	9	5666											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560130	19560130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcctggctgctggccGcaggctccatctttggtttt	13	14	1	0			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chrX:19560130G>A	uc004czm.3	-	15	2121	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	SH3KBP1_uc011mje.2_Missense_Mutation_p.A341V|SH3KBP1_uc011mjf.2_Missense_Mutation_p.A364V|SH3KBP1_uc004czl.3_Missense_Mutation_p.A565V|SH3KBP1_uc010nfm.3_Missense_Mutation_p.A47V	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	602					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCTGCTGGCCGCAGGCTCCAT	0.627													43	75					0	0	1	0	0	A	19560130	G	A	19560130	3	1	334	1	0	0	0	0	1	0	0	0	14255	1087	38	1	204	1	SH3KBP1	23	19560130	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		19560130	135710430	10	5667											
GPR112	139378	broad.mit.edu	37	chrX	135427194	135427194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattgaatctacagctgcCggaactgtaccttggtttac	8	10	2	1			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chrX:135427194C>T	uc004ezu.1	+	5	1620	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	GPR112_uc010nsb.1_Silent_p.A238A|GPR112_uc010nsc.1_Silent_p.A210A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	443					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTACAGCTGCCGGAACTGTAC	0.478													23	66					0	0	1	0	0	T	135427194	C	T	135427194	2	4	334	1	0	0	0	0	0	0	0	1	6629	639	23	1		1	GPR112	23	135427194	Silent	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08	115867064	135427194	19843366	11	5668											
GRM2	2912	broad.mit.edu	37	chr3	51746681	51746681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccactgtggcgtctgagggcGactatggcgagacaggcatt	15	10	1	2			TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr3:51746681G>T	uc010hlv.3	+	2	882	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	215					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GTCTGAGGGCGACTATGGCGA	0.602													24	62					0	0	1	0	0	T	51746681	G	T	51746681	3	4	335	1	0	0	0	0	1	0	0	0	6797	1058	37	4	649	4	GRM2	3	51746681	Missense_Mutation	SNP	G	TCGA-ET-A3DT-01A-11D-A19J-08		51746681	146275749	1	5669											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	40					0	0	1	0	0	T	140453136	A	T	140453136	3	4	335	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DT-01A-11D-A19J-08		140453136	18685527	2	5670											
LSP1	4046	broad.mit.edu	37	chr11	1907970	1907970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctctgcagaccgctggCcggacccccaagctagcccg	10	20	1	1			TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr11:1907970C>T	uc001luj.3	+	8	1218	c.1110C>T	c.(1108-1110)ggC>ggT	p.G370G	LSP1_uc001lui.3_Silent_p.G242G|LSP1_uc001luk.3_Silent_p.G180G|LSP1_uc001lul.3_Silent_p.G180G|LSP1_uc001lum.3_Silent_p.G180G	NM_001242932	NP_001229861	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 5, mRNA.	242					cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGACCGCTGGCCGGACCCCCA	0.602													8	84					0	0	1	0	0	T	1907970	C	T	1907970	2	4	335	1	0	0	0	0	0	0	0	1	9063	726	26	2		2	LSP1	11	1907970	Silent	SNP	C	TCGA-ET-A3DT-01A-11D-A19J-08		1907970	133098546	3	5671											
NCOR1	9611	broad.mit.edu	37	chr17	15973810	15973810	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgatggcagattgaccTgagttgttgtcaaactttat	10	5	1	4			TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr17:15973810T>A	uc002gpo.3	-	30	4451	c.4182A>T	c.(4180-4182)tcA>tcT	p.S1394S	NCOR1_uc002gpn.3_Silent_p.S1410S|NCOR1_uc002gpp.1_Silent_p.S1301S|NCOR1_uc002gpm.3_5'Flank|NCOR1_uc010vwb.2_5'UTR|NCOR1_uc010coy.3_Silent_p.S302S|NCOR1_uc010vwc.2_Silent_p.S205S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1394	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGATTGACCTGAGTTGTTGT	0.428													21	62					0	0	1	0	0	A	15973810	T	A	15973810	2	1	335	1	0	0	0	0	0	0	0	1	10235	1567	55	5		5	NCOR1	17	15973810	Silent	SNP	T	TCGA-ET-A3DT-01A-11D-A19J-08		15973810	65221400	4	5672											
CACHD1	57685	broad.mit.edu	37	chr1	65117914	65117914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaattgtaggtgtggacgtGaatctggcttacattcttga	13	5	2	2			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:65117914G>A	uc001dbo.1	+	9	1413	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	CACHD1_uc001dbp.1_Silent_p.V191V|CACHD1_uc001dbq.1_Silent_p.V191V	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	487	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGTGGACGTGAATCTGGCTT	0.368													12	72					0	0	1	0	0	A	65117914	G	A	65117914	2	1	336	1	0	0	0	0	0	0	0	1	2537	1277	45	2		2	CACHD1	1	65117914	Silent	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		65117914	184132707	1	5673											
NBPF10	100132406	broad.mit.edu	37	chr1	145368466	145368466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggcgtgctgatggaagtgGaagagcgtgaagtcttacag	16	6	1	3			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:145368466G>A	uc021oul.1	+	83	10479	c.10444G>A	c.(10444-10446)Gaa>Aaa	p.E3482K	NBPF10_uc010oye.2_Missense_Mutation_p.E841K|NBPF10_uc010oyi.2_Missense_Mutation_p.E410K|NBPF10_uc010oyj.2_Missense_Mutation_p.E198K|NBPF10_uc010oyl.2_Missense_Mutation_p.E198K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3482										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGGAAGTGGAAGAGCGTGA	0.468													30	494					0	0	1	0	0	A	145368466	G	A	145368466	3	1	336	1	0	0	0	0	1	0	0	0	10193	1175	41	2	10778	2	NBPF10	1	145368466	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	80250552	145368466	103882155	2	5674											
GIGYF2	26058	broad.mit.edu	37	chr2	233710457	233710457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagtaaatctgtaggtgtGtctaaccggcagaataagaa	10	5	2	2			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr2:233710457G>A	uc002vtj.4	+	27	3651	c.3384G>A	c.(3382-3384)gtG>gtA	p.V1128V	GIGYF2_uc002vti.4_Silent_p.V1107V|GIGYF2_uc002vtk.4_Silent_p.V1107V|GIGYF2_uc002vth.4_Silent_p.V1101V|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc002vtq.4_Silent_p.V440V	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1107					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGTAGGTGTGTCTAACCGGC	0.363													4	75					0	0	1	0	0	A	233710457	G	A	233710457	2	1	336	1	0	0	0	0	0	0	0	1	6378	1364	48	2		2	GIGYF2	2	233710457	Silent	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		233710457	9488916	3	5675											
KCNAB1	7881	broad.mit.edu	37	chr3	156009858	156009858	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcctggggacgttcacGcctcagcatcacatttctct	9	15	4	0	rs138625130		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr3:156009858G>T	uc003fat.2	+	0	1083	c.162G>T	c.(160-162)acG>acT	p.T54T	KCNAB1_uc003far.2_Intron|KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Intron|KCNAB1_uc010hvt.1_Silent_p.T54T	NM_172159	NP_751891	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 3, mRNA.	72						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.T54T(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGACGTTCACGCCTCAGCATC	0.567													4	81					0	0	1	0	0	T	156009858	G	T	156009858	2	4	336	1	0	0	0	0	0	0	0	1	8009	1074	38	4		4	KCNAB1	3	156009858	Silent	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		156009858	42012572	4	5676											
AIM1	202	broad.mit.edu	37	chr6	106992466	106992466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggttgcatatgagaaacCtggatttaccggtcatcagt	11	7	2	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr6:106992466C>T	uc003prh.3	+	9	4748	c.3836C>T	c.(3835-3837)cCt>cTt	p.P1279L	AIM1_uc003pri.3_Missense_Mutation_p.P83L	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1279	Beta/gamma crystallin 'Greek key' 6.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TATGAGAAACCTGGATTTACC	0.398													4	69					0	0	1	0	0	T	106992466	C	T	106992466	3	4	336	1	0	0	0	0	1	0	0	0	430	681	24	2	3874	2	AIM1	6	106992466	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		106992466	64122601	5	5677											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	52					0	0	1	0	0	T	140453136	A	T	140453136	3	4	336	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DU-01A-11D-A19J-08		140453136	18685527	6	5678											
MLL3	58508	broad.mit.edu	37	chr7	151878394	151878394	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caaacaagtcagtttgtgtaGatggtcttggggtttggggc	15	5	2	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151878394G>C	uc003wla.3	-	35	6770	c.6551C>G	c.(6550-6552)tCt>tGt	p.S2184C	MLL3_uc003wkz.3_Missense_Mutation_p.S1245C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2184	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.P2183S(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGTTTGTGTAGATGGTCTTGG	0.483			N		medulloblastoma								6	89					0	0	1	0	0	C	151878394	G	C	151878394	3	2	336	1	0	0	0	0	1	0	0	0	9622	942	33	4	8280	4	MLL3	7	151878394	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	11425258	151878394	7260269	7	5679			1	12		4	4	1181	G		4.521255e-11
MLL3	58508	broad.mit.edu	37	chr7	151878929	151878929	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagatggtttagtaaagtGatcactggttccagctgcta	12	6	1	2			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151878929G>A	uc003wla.3	-	35	6235	c.6016C>T	c.(6016-6018)Cac>Tac	p.H2006Y	MLL3_uc003wkz.3_Missense_Mutation_p.H1067Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2006	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTAGTAAAGTGATCACTGGTT	0.463			N		medulloblastoma								15	201					0	0	1	0	0	A	151878929	G	A	151878929	3	1	336	1	0	0	0	0	1	0	0	0	9622	1290	45	2	8815	2	MLL3	7	151878929	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	535	151878929	7259734	8	5680			1	12		4	4	1181	G		4.521255e-11
MLL3	58508	broad.mit.edu	37	chr7	151879081	151879081	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtcattatttgtcgtggaaGaagaacataaatctctgaca	9	6	2	3			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151879081G>A	uc003wla.3	-	35	6083	c.5864C>T	c.(5863-5865)tCt>tTt	p.S1955F	MLL3_uc003wkz.3_Missense_Mutation_p.S1016F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1955	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGTCGTGGAAGAAGAACATAA	0.463			N		medulloblastoma								12	210					0	0	1	0	0	A	151879081	G	A	151879081	3	1	336	1	0	0	0	0	1	0	0	0	9622	942	33	2	8967	2	MLL3	7	151879081	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	152	151879081	7259582	9	5681			1	12		4	4	1181	G		4.521255e-11
MLL3	58508	broad.mit.edu	37	chr7	151879574	151879574	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agactgcaccagaagatgctGagaaccaaattgctgttgtt	10	8	0	4			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151879574G>A	uc003wla.3	-	35	5590	c.5371C>T	c.(5371-5373)Cag>Tag	p.Q1791*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q852*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1791	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.Q1791*(3)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGAAGATGCTGAGAACCAAAT	0.468			N		medulloblastoma								15	177					0	0	1	0	0	A	151879574	G	A	151879574	4	1	336	1	0	0	0	0	0	1	0	0	9622	1299	45	2	9460	2	MLL3	7	151879574	Nonsense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	493	151879574	7259089	10	5682			1	12		4	4	1181	G		4.521255e-11
TRPM3	80036	broad.mit.edu	37	chr9	73152080	73152080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcttgaaggtgttcccttCctggctgttgaagctgctct	12	10	1	2	rs144341800		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr9:73152080C>T	uc004aid.3	-	24	4157	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	TRPM3_uc004ahu.3_Missense_Mutation_p.E1147K|TRPM3_uc004ahv.3_Missense_Mutation_p.E1107K|TRPM3_uc004ahw.3_Missense_Mutation_p.E1177K|TRPM3_uc004ahx.3_Missense_Mutation_p.E1164K|TRPM3_uc004ahy.3_Missense_Mutation_p.E1167K|TRPM3_uc004ahz.3_Missense_Mutation_p.E1154K|TRPM3_uc004aia.3_Missense_Mutation_p.E1152K|TRPM3_uc004aib.3_Missense_Mutation_p.E1142K|TRPM3_uc004aic.3_Missense_Mutation_p.E1305K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1330						integral to membrane	calcium channel activity	p.E1309K(1)|p.E1177K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGTTCCCTTCCTGGCTGTTG	0.567													23	100					0	0	1	0	0	T	73152080	C	T	73152080	3	4	336	1	0	0	0	0	1	0	0	0	16584	864	30	2	1214	2	TRPM3	9	73152080	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		73152080	68061351	11	5683											
TIPIN	54962	broad.mit.edu	37	chr15	66633685	66633685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatgttcattattctccGcaacttcatctgcaatagaa	4	11	5	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr15:66633685G>A	uc002apr.2	-	6	571	c.485C>T	c.(484-486)gCg>gTg	p.A162V	TIPIN_uc010ujn.1_Missense_Mutation_p.A61V|TIPIN_uc010ujo.1_Missense_Mutation_p.A61V	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN	Homo sapiens TIMELESS interacting protein (TIPIN), mRNA.	162					DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATTATTCTCCGCAACTTCATC	0.363													3	24					0	0	1	0	0	A	66633685	G	A	66633685	3	1	336	1	0	0	0	0	1	0	0	0	15922	1087	38	1	428	1	TIPIN	15	66633685	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		66633685	35897707	12	5684											
NDUFB10	4716	broad.mit.edu	37	chr16	2011570	2011570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagagggaaggacagaaCtaccagcagaactgtatcaa	11	9	1	3			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr16:2011570C>T	uc002cni.2	+	2	451	c.342C>T	c.(340-342)aaC>aaT	p.N114N	TCRBV20S1_uc021tak.1_Intron|NDUFB10_uc002cnj.2_Silent_p.N114N	NM_004548	NP_004539	O96000	NDUBA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa (NDUFB10), nuclear gene encoding mitochondrial protein, mRNA.	114					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	AAGGACAGAACTACCAGCAGA	0.557													14	89					0	0	1	0	0	T	2011570	C	T	2011570	2	4	336	1	0	0	0	0	0	0	0	1	10279	564	20	2		2	NDUFB10	16	2011570	Silent	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		2011570	88343183	13	5685											
KIF1C	10749	broad.mit.edu	37	chr17	4906130	4906130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctcacggggctggactCggagaaggtgggatcgcccc	16	13	1	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr17:4906130C>T	uc002gan.2	+	7	1070	c.713C>T	c.(712-714)tCg>tTg	p.S238L		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	238	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGGCTGGACTCGGAGAAGGTG	0.632													6	56					0	0	1	0	0	T	4906130	C	T	4906130	3	4	336	1	0	0	0	0	1	0	0	0	8285	893	31	1	735	1	KIF1C	17	4906130	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		4906130	76289080	14	5686											
FCGBP	8857	broad.mit.edu	37	chr19	40433640	40433640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagctgtgacctttgaccccGagagatccactgagctctgt	10	12	1	4			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr19:40433640G>A	uc002omp.4	-	1	637	c.629C>T	c.(628-630)tCg>tTg	p.S210L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	210	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTTGACCCCGAGAGATCCAC	0.542													9	75					0	0	1	0	0	A	40433640	G	A	40433640	3	1	336	1	0	0	0	0	1	0	0	0	5778	1059	37	1	15728	1	FCGBP	19	40433640	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		40433640	18695343	15	5687											
ZGPAT	84619	broad.mit.edu	37	chr20	62340073	62340073	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggggacctgaaggagctcatCgagctcaccgaggccagcct	14	13	2	1			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr20:62340073C>G	uc002ygk.3	+	1	330	c.141C>G	c.(139-141)atC>atG	p.I47M	ARFRP1_uc002yga.3_5'Flank|ARFRP1_uc002ygf.3_5'Flank|ARFRP1_uc011abf.2_5'Flank|ARFRP1_uc002ygh.4_5'Flank|ARFRP1_uc002ygc.3_5'Flank|ARFRP1_uc011abg.2_5'Flank|ARFRP1_uc011abh.2_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.I47M|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Missense_Mutation_p.I47M|ZGPAT_uc002ygm.3_Missense_Mutation_p.I47M|ZGPAT_uc002ygj.2_Missense_Mutation_p.I47M|ZGPAT_uc002ygn.4_Non-coding_Transcript	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	47					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGGAGCTCATCGAGCTCACCG	0.672													7	64					0	0	1	0	0	G	62340073	C	G	62340073	3	3	336	1	0	0	0	0	1	0	0	0	17671	874	31	4	143	4	ZGPAT	20	62340073	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		62340073	685447	16	5688											
PLP1	5354	broad.mit.edu	37	chrX	103042822	103042822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcaacacctggaccacCtgccagtctattgccttccc	5	17	2	0			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chrX:103042822C>T	uc010nov.3	+	4	829	c.549C>T	c.(547-549)acC>acT	p.T183T	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Silent_p.T183T|PLP1_uc004elj.3_Silent_p.T148T|PLP1_uc011msf.2_Silent_p.T128T|PLP1_uc010nox.3_Silent_p.T137T	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	183			T -> N (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CCTGGACCACCTGCCAGTCTA	0.527													33	92					0	0	1	0	0	T	103042822	C	T	103042822	2	4	336	1	0	0	0	0	0	0	0	1	12104	668	24	2		2	PLP1	23	103042822	Silent	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		103042822	52227738	17	5689											
TP73	7161	broad.mit.edu	37	chr1	3624240	3624240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgcacaacccagctccaCcttcgacaccatgtcgccgg	7	19	0	0			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:3624240C>T	uc001akp.3	+	3	424	c.314C>T	c.(313-315)aCc>aTc	p.T105I	TP73_uc021ofb.1_Missense_Mutation_p.T105I|TP73_uc021ofc.1_Missense_Mutation_p.T105I|TP73_uc021ofd.1_Missense_Mutation_p.T105I|TP73_uc021ofe.1_Missense_Mutation_p.T105I|TP73_uc021off.1_Missense_Mutation_p.T105I|TP73_uc010nzj.2_Missense_Mutation_p.T56I|TP73_uc021ofg.1_Missense_Mutation_p.T56I|TP73_uc021ofh.1_Missense_Mutation_p.T56I|TP73_uc021ofi.1_Missense_Mutation_p.T56I|TP73_uc001akr.3_Missense_Mutation_p.T56I|TP73_uc009vlk.2_Missense_Mutation_p.T56I|TP73_uc001aks.3_Missense_Mutation_p.T56I|TP73_uc009vll.3_Missense_Mutation_p.T34I|TP73_uc010nzk.2_Missense_Mutation_p.T34I	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	105					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	p.S104F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCCAGCTCCACCTTCGACACC	0.672													36	53					0	0	1	0	0	T	3624240	C	T	3624240	3	4	337	1	0	0	0	0	1	0	0	0	16390	507	18	2	367	2	TP73	1	3624240	Missense_Mutation	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		3624240	245626381	1	5690											
ZZZ3	26009	broad.mit.edu	37	chr1	78097775	78097775	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaggagattgacttacaTtatcactaacagttgcattt	7	6	1	2			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:78097775T>A	uc001dhq.3	-	4	1741	c.1265A>T	c.(1264-1266)aAt>aTt	p.N422I	ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.N422I|ZZZ3_uc001dhp.3_Missense_Mutation_p.N422I	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTGACTTACATTATCACTAAC	0.343													4	86					0	0	1	0	0	A	78097775	T	A	78097775	3	1	337	1	0	0	0	0	1	0	0	0	18253	1493	52	5	1490	5	ZZZ3	1	78097775	Missense_Mutation	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08	74473535	78097775	171152846	2	5691											
CR2	1380	broad.mit.edu	37	chr1	207643143	207643143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacttacacttgtgacccGgacccagaggaaggagtgaa	12	10	1	3			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:207643143G>A	uc001hfv.3	+	5	1040	c.921G>A	c.(919-921)ccG>ccA	p.P307P	CR2_uc001hfw.3_Silent_p.P307P|CR2_uc009xch.3_Silent_p.P307P|CR2_uc009xci.1_5'Flank	NM_001006658	NP_001006659	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 1, mRNA.	307	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTTGTGACCCGGACCCAGAGG	0.488													4	98					0	0	1	0	0	A	207643143	G	A	207643143	2	1	337	1	0	0	0	0	0	0	0	1	3842	1103	39	1		1	CR2	1	207643143	Silent	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08	129545368	207643143	41607478	3	5692											
SLA	6503	broad.mit.edu	37	chr8	134072405	134072408	+	Frame_Shift_Del	DEL	TTTC	TTTC	-													ggatttcatgctgtttcccaTttctttctttttccctgggg							TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr8:134072405_134072408delTTTC	uc011ljd.2	-	0	196_199	c.118_121delGAAA	c.(118-123)gaaatgfs	p.E40fs	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Start_Codon_Del|SLA_uc011lje.2_Frame_Shift_Del_p.E17fs|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Frame_Shift_Del_p.E17fs|SLA_uc010mdy.1_Start_Codon_Del|SLA_uc010mdz.1_Start_Codon_Del|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	0	SH3.					endosome	SH3/SH2 adaptor activity	p.P40H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CTGTTTCCCATTTCTTTCTTTTTC	0.578													55	83	---	---	---	---						-	134072408	TTTC	-	134072405	7	5	337	1	0	1	0	1	0	0	0	0	14363	1493	52	0	857	0	SLA	8	134072405	Frame_Shift_Del	DEL	TTTC	TCGA-ET-A3DV-01A-12D-A202-08		134072405	12291617	4	5693											
ZNF462	58499	broad.mit.edu	37	chr9	109687520	109687520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaataggttccagtgccccTtttgtcctttcctcaccatg	7	13	1	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr9:109687520T>C	uc004bcz.3	+	2	1616	c.1327T>C	c.(1327-1329)Ttt>Ctt	p.F443L	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.F291L|ZNF462_uc004bda.3_Missense_Mutation_p.F291L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	443					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCAGTGCCCCTTTTGTCCTTT	0.463													3	126					0	0	1	0	0	C	109687520	T	C	109687520	3	2	337	1	0	0	0	0	1	0	0	0	17923	1609	56	3	1333	3	ZNF462	9	109687520	Missense_Mutation	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08		109687520	31525911	5	5694											
RABGAP1	23637	broad.mit.edu	37	chr9	125863904	125863904	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagaagggcgtgtaaaAggcataagctcaaccaagga	11	7	1	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr9:125863904A>G	uc011lzh.2	+	24	3083	c.2949A>G	c.(2947-2949)aaA>aaG	p.K983K	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Silent_p.K322K	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	983					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GGCGTGTAAAAGGCATAAGCT	0.448													3	68					0	0	1	0	0	G	125863904	A	G	125863904	2	3	337	1	0	0	0	0	0	0	0	1	12964	69	3	3		3	RABGAP1	9	125863904	Silent	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	16176384	125863904	15349527	6	5695											
LDB3	11155	broad.mit.edu	37	chr10	88441198	88441198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccctgtgccaggacccCgctctggacacgaacggcag	12	17	1	0			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr10:88441198C>T	uc010qmm.2	+	4	472	c.327C>T	c.(325-327)ccC>ccT	p.P109P	LDB3_uc010qml.1_Silent_p.P109P|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Intron|LDB3_uc001kdv.3_Silent_p.P109P|LDB3_uc001kdr.3_Intron|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Silent_p.P109P|LDB3_uc001kds.3_Silent_p.P109P	NM_001171610	NP_001165081	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 5, mRNA.	109						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCAGGACCCCGCTCTGGACA	0.677													4	183					0	0	1	0	0	T	88441198	C	T	88441198	2	4	337	1	0	0	0	0	0	0	0	1	8697	639	23	1		1	LDB3	10	88441198	Silent	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		88441198	47093549	7	5696											
FAM35A	54537	broad.mit.edu	37	chr10	88911225	88911225	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgacccctggaaaaaAattcagcttttatacagtca	7	9	2	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr10:88911225A>T	uc001kei.4	+	2	228	c.114A>T	c.(112-114)aaA>aaT	p.K38N		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	38										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCTGGAAAAAAATTCAGCTTT	0.373													21	16					0	0	1	0	0	T	88911225	A	T	88911225	3	4	337	1	0	0	0	0	1	0	0	0	5553	11	1	5	116	5	FAM35A	10	88911225	Missense_Mutation	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	470027	88911225	46623522	8	5697											
PPP2R1B	5519	broad.mit.edu	37	chr11	111625705	111625705	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaattgaactccttaaccTtttactttgtgggcagcagc	7	9	0	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr11:111625705T>C	uc001plw.1	-	7	1042	c.958_splice	c.e7+1	p.E320_splice	PPP2R1B_uc010rwi.1_Splice_Site_p.E256_splice|PPP2R1B_uc001plx.1_Splice_Site_p.E320_splice|PPP2R1B_uc010rwk.1_Splice_Site_p.E320_splice|PPP2R1B_uc010rwl.1_Splice_Site_p.E193_splice|PPP2R1B_uc010rwj.1_Splice_Site_p.E159_splice	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	320							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCCTTAACCTTTTACTTTGT	0.383													3	80					0	0	1	0	0	C	111625705	T	C	111625705	5	2	337	1	0	0	0	0	0	0	1	0	12383	1623	56	3	1107	3	PPP2R1B	11	111625705	Splice_Site	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08		111625705	23380811	9	5698											
TRIM13	10206	broad.mit.edu	37	chr13	50586828	50586828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccattgtatttctgcaacAgatgcaggagtttagagaga	10	7	1	3			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr13:50586828A>G	uc001vdp.1	+	3	1179	c.761A>G	c.(760-762)cAg>cGg	p.Q254R	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.Q251R|TRIM13_uc001vdr.1_Missense_Mutation_p.Q251R|TRIM13_uc001vds.1_Missense_Mutation_p.Q251R|TRIM13_uc021rjq.1_Missense_Mutation_p.Q251R	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	251					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTTCTGCAACAGATGCAGGAG	0.413													6	127					0	0	1	0	0	G	50586828	A	G	50586828	3	3	337	1	0	0	0	0	1	0	0	0	16485	188	7	3	767	3	TRIM13	13	50586828	Missense_Mutation	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08		50586828	64583050	10	5699											
MYCBP2	23077	broad.mit.edu	37	chr13	77740543	77740543	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atccatgaattaagattttcAtgaacagatgtcaattttgg	7	5	2	4			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr13:77740543A>T	uc021rks.1	-	40	6528	c.6261T>A	c.(6259-6261)caT>caA	p.H2087Q	MYCBP2_uc010aev.3_Missense_Mutation_p.H1453Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2049					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAAGATTTTCATGAACAGATG	0.383													5	72					0	0	1	0	0	T	77740543	A	T	77740543	3	4	337	1	0	0	0	0	1	0	0	0	10018	214	8	5	7947	5	MYCBP2	13	77740543	Missense_Mutation	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	27153715	77740543	37429335	11	5700											
PNN	5411	broad.mit.edu	37	chr14	39650419	39650419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcctccctctcagccTgaggatttgtcattagctgt	8	14	2	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr14:39650419T>C	uc001wuw.4	+	8	1603	c.1506T>C	c.(1504-1506)ccT>ccC	p.P502P		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	502	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CCTCTCAGCCTGAGGATTTGT	0.517													3	131					0	0	1	0	0	C	39650419	T	C	39650419	2	2	337	1	0	0	0	0	0	0	0	1	12160	1567	55	3		3	PNN	14	39650419	Silent	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08		39650419	67699121	12	5701											
NOX5	79400	broad.mit.edu	37	chr15	69349008	69349008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccattgtgagaagttcgGcttcagatttttccaagaga	12	7	1	3			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr15:69349008G>T	uc002ars.2	+	15	2311	c.2270G>T	c.(2269-2271)gGc>gTc	p.G757V	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.G711V|NOX5_uc002arp.2_Missense_Mutation_p.G739V|NOX5_uc010bid.2_Missense_Mutation_p.G722V|NOX5_uc010bie.2_Missense_Mutation_p.G557V|NOX5_uc002arr.2_Missense_Mutation_p.G729V|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	757					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAGAAGTTCGGCTTCAGATTT	0.517													48	36					0	0	1	0	0	T	69349008	G	T	69349008	3	4	337	1	0	0	0	0	1	0	0	0	10559	1203	42	4	2365	4	NOX5	15	69349008	Missense_Mutation	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08		69349008	33182384	13	5702											
IRX6	79190	broad.mit.edu	37	chr16	55363139	55363139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaaccccaagtttgccCtgcagggactaccgctgaac	10	13	0	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr16:55363139C>T	uc002ehy.3	+	4	1782	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	IRX6_uc002ehx.3_Silent_p.L417L	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	417						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAAGTTTGCCCTGCAGGGACT	0.642													8	140					0	0	1	0	0	T	55363139	C	T	55363139	2	4	337	1	0	0	0	0	0	0	0	1	7848	680	24	2		2	IRX6	16	55363139	Silent	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		55363139	34991614	14	5703											
GZMM	3004	broad.mit.edu	37	chr19	547312	547312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacccagatcatcgggggcCgggaggtgatcccccactcg	15	14	1	2			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:547312C>T	uc002low.1	+	1	133	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_005317	NP_005308	P51124	GRAM_HUMAN	Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.	30	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGGGGGCCGGGAGGTGAT	0.647													78	84					0	0	1	0	0	T	547312	C	T	547312	3	4	337	1	0	0	0	0	1	0	0	0	6919	643	23	1	94	1	GZMM	19	547312	Missense_Mutation	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		547312	58581671	15	5704											
ZBTB32	27033	broad.mit.edu	37	chr19	36206734	36206734	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagccctaccccaggTaagcccctcgctgtcctgca	7	20	0	0			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:36206734T>C	uc002oay.3	+	3	1165	c.955_splice	c.e3+2	p.G319_splice	ZBTB32_uc002oaz.3_Intron|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	319					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTACCCCAGGTAAGCCCCTCG	0.617													3	84					0	0	1	0	0	C	36206734	T	C	36206734	5	2	337	1	0	0	0	0	0	0	1	0	17532	1652	57	3	963	3	ZBTB32	19	36206734	Splice_Site	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08	35659422	36206734	22922249	16	5705											
ZNF230	7773	broad.mit.edu	37	chr19	44515136	44515136	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgaggagtgtggaaaAggcttcactgatagcctaga	12	6	2	3			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:44515136A>G	uc002oyb.1	+	4	1196	c.945A>G	c.(943-945)aaA>aaG	p.K315K		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGTGTGGAAAAGGCTTCACTG	0.423													3	206					0	0	1	0	0	G	44515136	A	G	44515136	2	3	337	1	0	0	0	0	0	0	0	1	17781	69	3	3		3	ZNF230	19	44515136	Silent	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	8308402	44515136	14613847	17	5706											
HIF3A	64344	broad.mit.edu	37	chr19	46815428	46815428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccaggattgcagaaGtggctggctatagtcccgat	11	13	0	1			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:46815428G>T	uc002peh.3	+	6	812	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	HIF3A_uc002pef.2_Missense_Mutation_p.V261L|HIF3A_uc002peg.4_Missense_Mutation_p.V261L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.V205L|HIF3A_uc002pej.2_Missense_Mutation_p.V192L|HIF3A_uc010xxy.2_Missense_Mutation_p.V192L|HIF3A_uc002pel.3_Missense_Mutation_p.V259L|HIF3A_uc010xxz.2_Missense_Mutation_p.V210L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	261	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.A260T(1)|p.G261D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GATTGCAGAAGTGGCTGGCTA	0.592													9	241					0	0	1	0	0	T	46815428	G	T	46815428	3	4	337	1	0	0	0	0	1	0	0	0	7105	1029	36	4	831	4	HIF3A	19	46815428	Missense_Mutation	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08	2300292	46815428	12313555	18	5707											
ZNF341	84905	broad.mit.edu	37	chr20	32341114	32341114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgggcccccctgggcGtcccaaccctggtgggaacg	15	16	0	0			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr20:32341114G>A	uc002wzy.3	+	4	646	c.626G>A	c.(625-627)cGt>cAt	p.R209H	ZNF341_uc002wzx.3_Missense_Mutation_p.R209H|ZNF341_uc010geq.3_Missense_Mutation_p.R119H|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCCCTGGGCGTCCCAACCCT	0.697													13	10					0	0	1	0	0	A	32341114	G	A	32341114	3	1	337	1	0	0	0	0	1	0	0	0	17854	1145	40	1	644	1	ZNF341	20	32341114	Missense_Mutation	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08		32341114	30684406	19	5708											
GABRQ	55879	broad.mit.edu	37	chrX	151818902	151818902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgccaggttcctacataCgcctgatactgaagttccag	8	13	0	2			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chrX:151818902C>T	uc004ffp.1	+	6	780	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	254						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTACATACGCCTGATACT	0.522													12	487					0	0	1	0	0	T	151818902	C	T	151818902	3	4	337	1	0	0	0	0	1	0	0	0	6175	536	19	1	786	1	GABRQ	23	151818902	Missense_Mutation	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		151818902	3451658	20	5709											
ZNF644	84146	broad.mit.edu	37	chr1	91404819	91404819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctgttttgattgcacaTgtttacacctgattgggcaa	10	7	0	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:91404819T>C	uc001dnw.3	-	2	2375	c.2092A>G	c.(2092-2094)Atg>Gtg	p.M698V	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.M698V	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGATTGCACATGTTTACACCT	0.368													59	58					0	0	1	0	0	C	91404819	T	C	91404819	3	2	338	1	0	0	0	0	1	0	0	0	18057	1464	51	3	1907	3	ZNF644	1	91404819	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08		91404819	157845802	1	5710											
SLC26A9	115019	broad.mit.edu	37	chr1	205892514	205892514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttggcaaagtagagaggGgagcagtacgtgatgatttt	16	3	0	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:205892514G>A	uc001hdp.3	-	14	1722	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	SLC26A9_uc001hdo.3_Silent_p.S204S|SLC26A9_uc001hdq.3_Silent_p.S536S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	536	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGTAGAGAGGGGAGCAGTACG	0.507													8	91					0	0	1	0	0	A	205892514	G	A	205892514	2	1	338	1	0	0	0	0	0	0	0	1	14524	1219	43	2		2	SLC26A9	1	205892514	Silent	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08	114487695	205892514	43358107	2	5711											
ACVR2A	92	broad.mit.edu	37	chr2	148684674	148684674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatgctctgtgaaaccaTtgaagaatgttgggatcacg	12	7	2	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr2:148684674T>C	uc002twg.3	+	11	1642	c.1373T>C	c.(1372-1374)aTt>aCt	p.I458T	ACVR2A_uc010zbn.2_Missense_Mutation_p.I350T|ACVR2A_uc002twh.3_Missense_Mutation_p.I458T	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	458	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.I458T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTGAAACCATTGAAGAATGT	0.378													6	56					0	0	1	0	0	C	148684674	T	C	148684674	3	2	338	1	0	0	0	0	1	0	0	0	223	1493	52	3	1415	3	ACVR2A	2	148684674	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08		148684674	94514699	3	5712											
ARMC8	25852	broad.mit.edu	37	chr3	137991824	137991824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaatatggcatttcagGctgaacaaaaaataaaagca	7	6	2	2			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:137991824G>A	uc003esa.1	+	17	1820	c.1453G>A	c.(1453-1455)Gct>Act	p.A485T	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.A468T|ARMC8_uc011bmg.1_Missense_Mutation_p.A432T|ARMC8_uc011bmh.1_Missense_Mutation_p.A426T|ARMC8_uc003esb.1_Missense_Mutation_p.A457T|ARMC8_uc003esc.1_Missense_Mutation_p.A257T|ARMC8_uc003esf.1_Missense_Mutation_p.A68T	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	499							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GGCATTTCAGGCTGAACAAAA	0.289													7	14					0	0	1	0	0	A	137991824	G	A	137991824	3	1	338	1	0	0	0	0	1	0	0	0	957	1203	42	2	1585	2	ARMC8	3	137991824	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		137991824	60030606	4	5713											
TSC22D2	9819	broad.mit.edu	37	chr3	150127909	150127909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctacccccgtcggagaaaAtgagccagcccactccggcc	10	17	0	2			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:150127909A>G	uc003exv.3	+	0	1122	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.M258V	NM_014779	NP_055594	O75157	T22D2_HUMAN	Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.	258							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCGGAGAAAATGAGCCAGCC	0.667													17	27					0	0	1	0	0	G	150127909	A	G	150127909	3	3	338	1	0	0	0	0	1	0	0	0	16605	101	4	3	774	3	TSC22D2	3	150127909	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08	12136085	150127909	47894521	5	5714											
GALNT7	51809	broad.mit.edu	37	chr4	174238797	174238797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttttagatcagaggcttcGaaactgcttactgcattgat	8	7	1	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr4:174238797G>A	uc003isz.4	+	9	1704	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	GALNT7_uc011ckb.2_Missense_Mutation_p.E318K	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	541	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E541K(2)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAGAGGCTTCGAAACTGCTTA	0.393													6	87					0	0	1	0	0	A	174238797	G	A	174238797	3	1	338	1	0	0	0	0	1	0	0	0	6218	1059	37	1	1659	1	GALNT7	4	174238797	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		174238797	16915479	6	5715											
BMPER	168667	broad.mit.edu	37	chr7	33976989	33976989	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggggagcctgttgtgAacagtgcaaaggtgattgat	16	5	0	4			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr7:33976989A>T	uc011kap.2	+	3	682	c.308A>T	c.(307-309)gAa>gTa	p.E103V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	103	VWFC 1.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCCTGTTGTGAACAGTGCAAA	0.488													31	33					0	0	1	0	0	T	33976989	A	T	33976989	3	4	338	1	0	0	0	0	1	0	0	0	1468	246	9	5	318	5	BMPER	7	33976989	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08		33976989	125161674	7	5716											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	48					0	0	1	0	0	T	140453136	A	T	140453136	3	4	338	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08	106476147	140453136	18685527	8	5717											
C10orf90	118611	broad.mit.edu	37	chr10	128193581	128193581	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaggccctgttttctcttGacttattctcatcaatcatc	6	11	4	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr10:128193581G>A	uc010qum.2	-	3	509	c.479C>T	c.(478-480)tCa>tTa	p.S160L	C10orf90_uc001ljp.3_Missense_Mutation_p.S16L|C10orf90_uc001ljq.3_Missense_Mutation_p.S63L|C10orf90_uc009yao.2_Missense_Mutation_p.S160L|C10orf90_uc001ljs.1_Missense_Mutation_p.S16L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	63										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GTTTTCTCTTGACTTATTCTC	0.463													29	43					0	0	1	0	0	A	128193581	G	A	128193581	3	1	338	1	0	0	0	0	1	0	0	0	1623	1294	45	2	1939	2	C10orf90	10	128193581	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		128193581	7341166	9	5718											
PHF21A	51317	broad.mit.edu	37	chr11	45958119	45958119	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcttccttcttcagcAtctgaaaagatttttagaat	5	8	4	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:45958119A>G	uc001ncc.4	-	16	2230	c.1606_splice	c.e16-1	p.M536_splice	PHF21A_uc001ncb.4_Splice_Site_p.M490_splice|PHF21A_uc009ykx.3_Splice_Site_p.M490_splice|PHF21A_uc001nca.1_Splice_Site_p.M272_splice	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	536	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTTCTTCAGCATCTGAAAAGA	0.388													27	44					0	0	1	0	0	G	45958119	A	G	45958119	5	3	338	1	0	0	0	0	0	0	1	0	11833	231	8	3	447	3	PHF21A	11	45958119	Splice_Site	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08		45958119	89048397	10	5719											
OR5F1	338674	broad.mit.edu	37	chr11	55761604	55761604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattggagtcacagaatgaCaagctgctgacatggcttgt	11	8	1	3			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:55761604C>T	uc010riv.2	-	0	498	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CACAGAATGACAAGCTGCTGA	0.473													7	55					0	0	1	0	0	T	55761604	C	T	55761604	2	4	338	1	0	0	0	0	0	0	0	1	11158	477	17	2		2	OR5F1	11	55761604	Silent	SNP	C	TCGA-ET-A3DW-01A-11D-A19J-08	9803485	55761604	79244912	11	5720											
NKX2-1	7080	broad.mit.edu	37	chr14	36987112	36987112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagagcacccggcgctTcctgcgcggcgcgcttggca	15	15	0	2			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr14:36987112T>C	uc001wtu.3	-	2	673	c.577A>G	c.(577-579)Aag>Gag	p.K193E	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K163E|NKX2-1_uc001wtv.3_Missense_Mutation_p.K163E|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	163					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ACCCGGCGCTTCCTGCGCGGC	0.701			A		NSCLC								9	7					0	0	1	0	0	C	36987112	T	C	36987112	3	2	338	1	0	0	0	0	1	0	0	0	10449	1792	62	3	632	3	NKX2-1	14	36987112	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08		36987112	70362428	12	5721											
MYLPF	29895	broad.mit.edu	37	chr16	30388975	30388975	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgtcacctctctccagCctggaggagctgctgaccac	10	15	2	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:30388975C>T	uc002dxv.1	+	6	413	c.357_splice	c.e6-1	p.F119_splice	ZNF48_uc021tgi.1_5'Flank|ZNF48_uc021tgj.1_5'Flank	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Homo sapiens myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF), mRNA.	119	EF-hand 2.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			CTCTCTCCAGCCTGGAGGAGC	0.662													3	6					0	0	1	0	0	T	30388975	C	T	30388975	5	4	338	1	0	0	0	0	0	0	1	0	10060	753	26	2	379	2	MYLPF	16	30388975	Splice_Site	SNP	C	TCGA-ET-A3DW-01A-11D-A19J-08		30388975	59965778	13	5722											
ZFHX3	463	broad.mit.edu	37	chr16	72821228	72821228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcgagggctgaaccccTgaggtgctgcatgaacttga	14	10	0	4			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:72821228T>C	uc002fck.3	-	9	11620	c.10947A>G	c.(10945-10947)tcA>tcG	p.S3649S	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.S2735S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3649					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGAACCCCTGAGGTGCTGC	0.602													43	60					0	0	1	0	0	C	72821228	T	C	72821228	2	2	338	1	0	0	0	0	0	0	0	1	17631	1567	55	3		3	ZFHX3	16	72821228	Silent	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08	42432253	72821228	17533525	14	5723											
SMCHD1	23347	broad.mit.edu	37	chr18	2697862	2697862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagggaaggtacctaagAttgtcaacctaagggaaata	10	5	1	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:2697862A>G	uc002klm.4	+	9	1354	c.1165A>G	c.(1165-1167)Att>Gtt	p.I389V	SMCHD1_uc002klk.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	389					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGTACCTAAGATTGTCAACCT	0.328													5	57					0	0	1	0	0	G	2697862	A	G	2697862	3	3	338	1	0	0	0	0	1	0	0	0	14788	333	12	3	1203	3	SMCHD1	18	2697862	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08		2697862	75379386	15	5724											
KDSR	2531	broad.mit.edu	37	chr18	61018297	61018297	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacacgctgcccaggtaatTgatgctcattaacctctgca	8	12	2	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:61018297T>A	uc010dpw.3	-	5	588	c.433A>T	c.(433-435)Aat>Tat	p.N145Y	KDSR_uc010xem.2_Intron	NM_002035	NP_002026	Q06136	KDSR_HUMAN	Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.	145					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CCCAGGTAATTGATGCTCATT	0.542													42	49					0	0	1	0	0	A	61018297	T	A	61018297	3	1	338	1	0	0	0	0	1	0	0	0	8140	1812	63	5	585	5	KDSR	18	61018297	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08	58320435	61018297	17058951	16	5725											
ZNF101	94039	broad.mit.edu	37	chr19	19790171	19790171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggcacatgagagctcatGctggacacaaacgatctgag	11	10	2	2			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:19790171G>T	uc002nni.2	+	3	483	c.373G>T	c.(373-375)Gct>Tct	p.A125S	ZNF101_uc010ecg.2_Missense_Mutation_p.A5S|ZNF101_uc002nnj.2_Missense_Mutation_p.A5S	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAGAGCTCATGCTGGACACAA	0.507													26	35					0	0	1	0	0	T	19790171	G	T	19790171	3	4	338	1	0	0	0	0	1	0	0	0	17711	1319	46	4	387	4	ZNF101	19	19790171	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		19790171	39338812	17	5726											
ZFP36	7538	broad.mit.edu	37	chr19	39898789	39898789	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgccaccccaaatacaagaCggaactctgtcacaagttct	6	14	3	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:39898789C>G	uc002olh.1	+	1	489	c.431C>G	c.(430-432)aCg>aGg	p.T144R		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	144					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAATACAAGACGGAACTCTGT	0.647													42	70					0	0	1	0	0	G	39898789	C	G	39898789	3	3	338	1	0	0	0	0	1	0	0	0	17642	536	19	4	437	4	ZFP36	19	39898789	Missense_Mutation	SNP	C	TCGA-ET-A3DW-01A-11D-A19J-08	20108618	39898789	19230194	18	5727											
SEZ6L	23544	broad.mit.edu	37	chr22	26747060	26747060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtggatcactcgacccGcttaatttcggatcctgtgc	11	11	1	1			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr22:26747060G>A	uc003acb.3	+	11	2646	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Missense_Mutation_p.R817H|SEZ6L_uc003ace.3_Missense_Mutation_p.R817H|SEZ6L_uc011akc.2_Missense_Mutation_p.R817H|SEZ6L_uc003acc.3_Missense_Mutation_p.R817H|SEZ6L_uc003acf.1_Missense_Mutation_p.R590H|SEZ6L_uc010gvc.1_Missense_Mutation_p.R590H|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	817	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.R817C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTCGACCCGCTTAATTTCG	0.547													28	46					0	0	1	0	0	A	26747060	G	A	26747060	3	1	338	1	0	0	0	0	1	0	0	0	14143	1087	38	1	2496	1	SEZ6L	22	26747060	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		26747060	24557506	19	5728											
LEMD1	93273	broad.mit.edu	37	chr1	205350961	205350961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcccatatgtgattctgGtgcttggtgctcttgcagcc	11	10	2	1			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr1:205350961G>A	uc001hcj.2	-	5	506	c.371C>T	c.(370-372)aCc>aTc	p.T124I	LEMD1_uc001hcl.2_Missense_Mutation_p.T83I|LEMD1_uc001hci.2_Missense_Mutation_p.P77S|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Missense_Mutation_p.P36S|LEMD1_uc001hck.2_Non-coding_Transcript|LOC284576_uc001hch.1_Intron	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	124						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TGTGATTCTGGTGCTTGGTGC	0.512													54	108					0	0	1	0	0	A	205350961	G	A	205350961	3	1	339	1	0	0	0	0	1	0	0	0	8719	1261	44	2	101	2	LEMD1	1	205350961	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		205350961	43899660	1	5729											
TRAK1	22906	broad.mit.edu	37	chr3	42167045	42167045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctccatacacctctcatTtctccagatgccaacattga	5	14	2	2			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr3:42167045T>G	uc003cky.3	+	1	441	c.225T>G	c.(223-225)atT>atG	p.I75M	TRAK1_uc011azh.2_Missense_Mutation_p.I75M|TRAK1_uc011azi.2_Missense_Mutation_p.I75M	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	75	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACCTCTCATTTCTCCAGATG	0.463													50	99					0	0	1	0	0	G	42167045	T	G	42167045	3	3	339	1	0	0	0	0	1	0	0	0	16446	1829	64	5	231	5	TRAK1	3	42167045	Missense_Mutation	SNP	T	TCGA-ET-A40S-01A-11D-A23M-08		42167045	155855385	2	5730											
SNX9	51429	broad.mit.edu	37	chr6	158342658	158342658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaatctcagaaagtgaaGttttccagcagttcctaaat	7	8	1	2			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr6:158342658G>A	uc003qqv.1	+	9	1218	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	349	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.E348*(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGAAAGTGAAGTTTTCCAGCA	0.428													24	44					0	0	1	0	0	A	158342658	G	A	158342658	3	1	339	1	0	0	0	0	1	0	0	0	14909	1029	36	2	1083	2	SNX9	6	158342658	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		158342658	12772409	3	5731											
SMARCD3	6604	broad.mit.edu	37	chr7	150936733	150936733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcccggctctgggagcGgagcaggtcttggacatagc	17	10	2	0			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr7:150936733G>A	uc003wjs.3	-	10	1374	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	SMARCD3_uc003wjt.3_Missense_Mutation_p.R412C|SMARCD3_uc003wju.3_Missense_Mutation_p.R412C	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	425					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCTGGGAGCGGAGCAGGTCT	0.537													15	112					0	0	1	0	0	A	150936733	G	A	150936733	3	1	339	1	0	0	0	0	1	0	0	0	14779	1116	39	1	190	1	SMARCD3	7	150936733	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		150936733	8201930	4	5732											
PLEKHA5	54477	broad.mit.edu	37	chr12	19408022	19408022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagaaggaacggccaAtaagtatgataaatgaagct	10	4	0	4			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr12:19408022A>G	uc010sie.2	+	4	463	c.355A>G	c.(355-357)Ata>Gta	p.I119V	PLEKHA5_uc001rea.3_Missense_Mutation_p.I119V|PLEKHA5_uc001reb.3_Missense_Mutation_p.I119V|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Missense_Mutation_p.I11V|PLEKHA5_uc010sih.1_Missense_Mutation_p.I11V|PLEKHA5_uc021qvy.1_Missense_Mutation_p.I11V	NM_001143821	NP_001137293	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 2, mRNA.	119							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGAACGGCCAATAAGTATGAT	0.358													21	57					0	0	1	0	0	G	19408022	A	G	19408022	3	3	339	1	0	0	0	0	1	0	0	0	12059	101	4	3	373	3	PLEKHA5	12	19408022	Missense_Mutation	SNP	A	TCGA-ET-A40S-01A-11D-A23M-08		19408022	114443873	5	5733											
PPL	5493	broad.mit.edu	37	chr16	4934540	4934540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccacatcgatgctctcGgcaaaggcgctcgcctcggc	11	16	1	0			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr16:4934540G>A	uc002cyd.1	-	21	4206	c.4116C>T	c.(4114-4116)gcC>gcT	p.A1372A		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1372					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGATGCTCTCGGCAAAGGCGC	0.677													29	211					0	0	1	0	0	A	4934540	G	A	4934540	2	1	339	1	0	0	0	0	0	0	0	1	12334	1103	39	1		1	PPL	16	4934540	Silent	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		4934540	85420213	6	5734											
MYH13	8735	broad.mit.edu	37	chr17	10265497	10265497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggcggggcctcctggCgctttttgcctctgtaggca	16	11	1	0			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr17:10265497C>T	uc002gmk.1	-	4	533	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	148	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCCTCCTGGCGCTTTTTGCC	0.527													63	121					0	0	1	0	0	T	10265497	C	T	10265497	3	4	339	1	0	0	0	0	1	0	0	0	10032	768	27	1	5521	1	MYH13	17	10265497	Missense_Mutation	SNP	C	TCGA-ET-A40S-01A-11D-A23M-08		10265497	70929713	7	5735											
MIER2	54531	broad.mit.edu	37	chr19	334487	334487	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccccctaacactgtagttCtgtgacaggatctctgcgag	9	13	2	1			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:334487C>T	uc002lok.1	-	2	165	c.156G>A	c.(154-156)caG>caA	p.Q52Q		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGTAGTTCTGTGACAGGA	0.597													21	86					0	0	1	0	0	T	334487	C	T	334487	2	4	339	1	0	0	0	0	0	0	0	1	9581	912	32	2		2	MIER2	19	334487	Silent	SNP	C	TCGA-ET-A40S-01A-11D-A23M-08		334487	58794496	8	5736											
LILRB1	10859	broad.mit.edu	37	chr19	55145098	55145098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttacccaggaccgtctgGgggccccagctccccgacaa	10	17	1	0			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:55145098G>A	uc002qgm.3	+	7	1436	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.3_Missense_Mutation_p.G424E|LILRB1_uc002qgl.3_Missense_Mutation_p.G424E|LILRB1_uc002qgk.3_Missense_Mutation_p.G424E|LILRB1_uc010erq.3_Intron|LILRB1_uc010err.3_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 2, mRNA.	424					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGACCGTCTGGGGGCCCCAGC	0.612										HNSCC(37;0.09)			13	8					0	0	1	0	0	A	55145098	G	A	55145098	3	1	339	1	0	0	0	0	1	0	0	0	8790	1232	43	2	1297	2	LILRB1	19	55145098	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08	54810611	55145098	3983885	9	5737											
ADD2	119	broad.mit.edu	37	chr2	70900084	70900084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctctgcactggagaaGcaggtgcagactttgcaggt	15	9	1	2			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr2:70900084G>A	uc021vjc.1	-	14	2061	c.1796C>T	c.(1795-1797)gCt>gTt	p.A599V	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.L628F|ADD2_uc002sgz.3_Missense_Mutation_p.A599V	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	599					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CACTGGAGAAGCAGGTGCAGA	0.512													6	29					0	0	1	0	0	A	70900084	G	A	70900084	3	1	340	1	0	0	0	0	1	0	0	0	305	971	34	2	392	2	ADD2	2	70900084	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		70900084	172299289	1	5738											
GLI2	2736	broad.mit.edu	37	chr2	121729541	121729541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagcagtgagtcggccGtcagcagcaccgtcaaccct	12	14	2	2			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr2:121729541G>A	uc010flp.3	+	6	1114	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I	GLI2_uc002tmq.1_Missense_Mutation_p.V34I|GLI2_uc002tmr.1_Missense_Mutation_p.V34I|GLI2_uc002tmt.4_Missense_Mutation_p.V34I|GLI2_uc002tmu.4_Missense_Mutation_p.V34I|GLI2_uc010flo.1_Missense_Mutation_p.V237I|GLI2_uc002tmw.1_Missense_Mutation_p.V362I	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	362					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGAGTCGGCCGTCAGCAGCAC	0.592													12	47					0	0	1	0	0	A	121729541	G	A	121729541	3	1	340	1	0	0	0	0	1	0	0	0	6438	1145	40	1	1110	1	GLI2	2	121729541	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08	50829457	121729541	121469832	2	5739											
CDKN1A	1026	broad.mit.edu	37	chr6	36651904	36651904	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaaccggctggggatgtccGtcagaacccatgcggcagca	14	12	1	2	rs143419412	byFrequency	TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr6:36651904G>C	uc011dtq.2	+	1	154	c.128G>C	c.(127-129)cGt>cCt	p.R43P	CDKN1A_uc021yzb.1_Missense_Mutation_p.R9P|CDKN1A_uc021yzc.1_Missense_Mutation_p.R9P|CDKN1A_uc003omm.4_Missense_Mutation_p.R9P|CDKN1A_uc003omn.3_Missense_Mutation_p.R9P	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	9					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGGGATGTCCGTCAGAACCCA	0.632													7	32					0	0	1	0	0	C	36651904	G	C	36651904	3	2	340	1	0	0	0	0	1	0	0	0	3158	1145	40	4	28	4	CDKN1A	6	36651904	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		36651904	134463163	3	5740											
PTK2B	2185	broad.mit.edu	37	chr8	27291612	27291612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctctcttcctagatGgtgagaagcggaacagcctg	10	12	1	2			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr8:27291612G>A	uc003xfn.2	+	16	1916	c.1108G>A	c.(1108-1110)Ggt>Agt	p.G370S	PTK2B_uc022ate.1_Missense_Mutation_p.G370S|PTK2B_uc003xfp.2_Missense_Mutation_p.G370S|PTK2B_uc003xfq.2_Missense_Mutation_p.G370S|PTK2B_uc010luq.1_Missense_Mutation_p.G128S|PTK2B_uc003xfr.1_Missense_Mutation_p.G116S	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	370					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTTCCTAGATGGTGAGAAGCG	0.582													22	89					0	0	1	0	0	A	27291612	G	A	27291612	3	1	340	1	0	0	0	0	1	0	0	0	12763	1348	47	2	1150	2	PTK2B	8	27291612	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		27291612	119072410	4	5741											
ITGA7	3679	broad.mit.edu	37	chr12	56091578	56091578	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagggagtagccgaagctcTtgatgcccacagcctcgccc	11	15	1	1			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr12:56091578T>G	uc001shh.3	-	8	1542	c.1322A>C	c.(1321-1323)aAg>aCg	p.K441T	ITGA7_uc001shg.3_Missense_Mutation_p.K437T|ITGA7_uc010sps.2_Missense_Mutation_p.K344T|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.K324T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	481					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCGAAGCTCTTGATGCCCAC	0.622													7	121					0	0	1	0	0	G	56091578	T	G	56091578	3	3	340	1	0	0	0	0	1	0	0	0	7881	1609	56	5	2171	5	ITGA7	12	56091578	Missense_Mutation	SNP	T	TCGA-ET-A4KN-01A-11D-A257-08		56091578	77760317	5	5742											
MON2	23041	broad.mit.edu	37	chr12	62986421	62986421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccaactttagtagaatgCatcacctgttcttcttcaga	5	11	4	2			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr12:62986421C>T	uc001sre.3	+	34	5437	c.5046C>T	c.(5044-5046)tgC>tgT	p.C1682C	MON2_uc010ssn.2_Silent_p.C1676C|MON2_uc009zqj.3_3'UTR|MON2_uc010ssl.2_Silent_p.C1610C|MON2_uc010ssm.2_Silent_p.C1653C|MON2_uc001srf.3_Silent_p.C1445C|MON2_uc001srg.3_Silent_p.C551C	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1683					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGTAGAATGCATCACCTGTT	0.393													22	43					0	0	1	0	0	T	62986421	C	T	62986421	2	4	340	1	0	0	0	0	0	0	0	1	9700	718	25	2		2	MON2	12	62986421	Silent	SNP	C	TCGA-ET-A4KN-01A-11D-A257-08	6894843	62986421	70865474	6	5743											
PRC1	9055	broad.mit.edu	37	chr15	91517940	91517940	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcccacaattcaattcGtgccttcaactcttcttcca	3	15	4	0			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr15:91517940G>A	uc002bqm.3	-	9	1382	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	PRC1_uc002bqn.3_Nonsense_Mutation_p.R409*|PRC1_uc002bqo.3_Nonsense_Mutation_p.R409*|PRC1_uc010uqs.2_Nonsense_Mutation_p.R368*	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	409	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AATTCAATTCGTGCCTTCAAC	0.413													9	199					0	0	1	0	0	A	91517940	G	A	91517940	4	1	340	1	0	0	0	0	0	1	0	0	12446	1153	40	1	661	1	PRC1	15	91517940	Nonsense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		91517940	11013452	7	5744											
C16orf5	29965	broad.mit.edu	37	chr16	4563025	4563025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagggccctggggggtaGtagcccatgggtgggtgggg	23	6	0	0			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr16:4563025G>A	uc002cwv.3	-	4	532	c.282C>T	c.(280-282)taC>taT	p.Y94Y	C16orf5_uc002cww.3_Silent_p.Y94Y|C16orf5_uc010uxl.2_Intron|C16orf5_uc010uxm.2_Intron|C16orf5_uc010btu.3_Intron|C16orf5_uc002cwu.3_Silent_p.Y94Y	NM_001199054	NP_001185983	Q9H305	LITFL_HUMAN	Homo sapiens chromosome 16 open reading frame 5 (C16orf5), transcript variant 1, mRNA.	94	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus				NS(1)|endometrium(1)|lung(2)|ovary(1)	5		Ovarian(90;0.17)				CTGGGGGGTAGTAGCCCATGG	0.657													3	3					0	0	1	0	0	A	4563025	G	A	4563025	2	1	340	1	0	0	0	0	0	0	0	1	1817	1024	36	2		2	C16orf5	16	4563025	Silent	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		4563025	85791728	8	5745											
MMP2	4313	broad.mit.edu	37	chr16	55516924	55516924	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttctttggactgccccagaCaggtgatcttgaccagaata	10	10	2	4			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr16:55516924C>G	uc002ehz.4	+	1	568	c.257C>G	c.(256-258)aCa>aGa	p.T86R	MMP2_uc010vhd.2_Missense_Mutation_p.T10R|MMP2_uc010ccc.3_Missense_Mutation_p.T36R	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	86					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.T86T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CTGCCCCAGACAGGTGATCTT	0.532													12	81					0	0	1	0	0	G	55516924	C	G	55516924	3	3	340	1	0	0	0	0	1	0	0	0	9658	478	17	4	270	4	MMP2	16	55516924	Missense_Mutation	SNP	C	TCGA-ET-A4KN-01A-11D-A257-08	50953899	55516924	34837829	9	5746											
MED11	400569	broad.mit.edu	37	chr17	4634849	4634849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacattgaacgggaaatcgGcgccatccttcagaatgcag	11	10	1	3			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr17:4634849G>A	uc002fyp.3	+	0	127	c.65G>A	c.(64-66)gGc>gAc	p.G22D		NM_001001683	NP_001001683	Q9P086	MED11_HUMAN	Homo sapiens mediator complex subunit 11 (MED11), mRNA.	22					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						CGGGAAATCGGCGCCATCCTT	0.577											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	37					0	0	1	0	0	A	4634849	G	A	4634849	3	1	340	1	0	0	0	0	1	0	0	0	9427	1203	42	2	67	2	MED11	17	4634849	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		4634849	76560361	10	5747											
RHOQ	23433	broad.mit.edu	37	chr2	46803383	46803383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtaccctttttattaatagGaactcaggtatgtctggttt	8	6	2	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr2:46803383G>A	uc002rva.3	+	2	678	c.359G>A	c.(358-360)gGa>gAa	p.G120E	BC048424_uc002rvb.3_Intron	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	120					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTATTAATAGGAACTCAGGTA	0.418													12	18					0	0	1	0	0	A	46803383	G	A	46803383	3	1	341	1	0	0	0	0	1	0	0	0	13342	1174	41	2	369	2	RHOQ	2	46803383	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08		46803383	196395990	1	5748											
RGPD4	285190	broad.mit.edu	37	chr2	108477236	108477236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagggcagtggtcttaaTtctttttatgatcaacgaga	9	5	3	2			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr2:108477236T>G	uc010ywk.2	+	12	1855	c.1773T>G	c.(1771-1773)aaT>aaG	p.N591K	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	591					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGGTCTTAATTCTTTTTATG	0.323													38	65					0	0	1	0	0	G	108477236	T	G	108477236	3	3	341	1	0	0	0	0	1	0	0	0	13288	1490	52	5	1823	5	RGPD4	2	108477236	Missense_Mutation	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08	61673853	108477236	134722137	2	5749											
C5orf42	65250	broad.mit.edu	37	chr5	37157920	37157920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcacaggtaattcctgTagaagatcattagcttcaat	6	9	4	2			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr5:37157920T>C	uc011coz.1	-	24	5117	c.5088A>G	c.(5086-5088)ctA>ctG	p.L1696L	C5orf42_uc011cpa.1_Intron|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Silent_p.L1121L|C5orf42_uc003jks.2_Non-coding_Transcript	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2604										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTAATTCCTGTAGAAGATCAT	0.358													7	13					0	0	1	0	0	C	37157920	T	C	37157920	2	2	341	1	0	0	0	0	0	0	0	1	2301	1653	57	3		3	C5orf42	5	37157920	Silent	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08		37157920	143757340	3	5750											
SNX18	112574	broad.mit.edu	37	chr5	53814143	53814143	+	Frame_Shift_Del	DEL	C	C	-													cgcctccgagcaccttccagCcgcccggcgcgggcttcccg							TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr5:53814143delC	uc003jpj.4	+	0	551	c.361delC	c.(361-363)ccgfs	p.P121fs	SNX18_uc011cqg.2_Frame_Shift_Del_p.P121fs|SNX18_uc003jpi.4_Frame_Shift_Del_p.P121fs	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	121					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CACCTTCCAGCCGCCCGGCGC	0.746													2	4	---	---	---	---						-	53814143	C	-	53814143	7	5	341	1	0	1	0	1	0	0	0	0	14889	739	26	0	363	0	SNX18	5	53814143	Frame_Shift_Del	DEL	C	TCGA-FE-A22Z-01A-11D-A17V-08	16656223	53814143	127101117	4	5751											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906598	32906598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccaagctattcagcaccCcaaattcgcaaggggccatc	8	15	1	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:32906598C>T	uc003ocl.2	-	1	463	c.200G>A	c.(199-201)gGg>gAg	p.G67E	HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_5'Flank|HLA-DMB_uc010jue.2_5'Flank|HLA-DMB_uc010juf.2_5'Flank|HLA-DMB_uc003ocj.2_Missense_Mutation_p.G67E|HLA-DMB_uc011dql.2_Missense_Mutation_p.G67E	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	67	Beta-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ATTCAGCACCCCAAATTCGCA	0.517													23	25					0	0	1	0	0	T	32906598	C	T	32906598	3	4	341	1	0	0	0	0	1	0	0	0	7199	623	22	2	611	2	HLA-DMB	6	32906598	Missense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08		32906598	138208469	5	5752											
COL19A1	1310	broad.mit.edu	37	chr6	70866046	70866046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcaactgccaagccagtGtcccagggctgaaaagcaac	12	12	0	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:70866046G>A	uc003pfc.1	+	31	2224	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	COL19A1_uc010kam.2_Missense_Mutation_p.V599I	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	703	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAAGCCAGTGTCCCAGGGCT	0.463													9	7					0	0	1	0	0	A	70866046	G	A	70866046	3	1	341	1	0	0	0	0	1	0	0	0	3676	1377	48	2	2229	2	COL19A1	6	70866046	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	37959448	70866046	100249021	6	5753											
MTO1	25821	broad.mit.edu	37	chr6	74171794	74171794	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccgcgtggacacgatcGgtgaggagcgcgggtgctgt	17	11	1	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:74171794G>A	uc010kav.3	+	1	341	c.217_splice	c.e1+1	p.G73_splice	MTO1_uc003pgy.4_Splice_Site_p.G73_splice|MTO1_uc003pgz.4_Splice_Site_p.G73_splice|MTO1_uc003pha.4_Splice_Site|MTO1_uc003phb.4_Intron|MTO1_uc003phc.1_5'Flank	NM_001123226	NP_001116698	Q9Y2Z2	MTO1_HUMAN	Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	73					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GGACACGATCGGTGAGGAGCG	0.657													3	48					0	0	1	0	0	A	74171794	G	A	74171794	5	1	341	1	0	0	0	0	0	0	1	0	9953	1130	39	1	219	1	MTO1	6	74171794	Splice_Site	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	3305748	74171794	96943273	7	5754											
PPIL6	285755	broad.mit.edu	37	chr6	109757309	109757309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaaatatcctttacccTttttttctcctgtagatatt	2	12	1	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:109757309T>C	uc010kdp.3	-	1	810	c.229A>G	c.(229-231)Agg>Ggg	p.R77G	PPIL6_uc003ptg.4_Missense_Mutation_p.R77G|PPIL6_uc021zdq.1_Non-coding_Transcript|Mir_584_uc021zdr.1_5'Flank	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	77					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338													3	97					0	0	1	0	0	C	109757309	T	C	109757309	3	2	341	1	0	0	0	0	1	0	0	0	12331	1608	56	3	816	3	PPIL6	6	109757309	Missense_Mutation	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08	35585515	109757309	61357758	8	5755											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				11	11					0	0	1	0	0	T	140453136	A	T	140453136	3	4	341	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A22Z-01A-11D-A17V-08		140453136	18685527	9	5756											
COL5A1	1289	broad.mit.edu	37	chr9	137690287	137690287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggactcccaggacacCctggacagagaggcgagact	14	11	0	2			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr9:137690287C>T	uc004cfe.3	+	36	3314	c.2932C>T	c.(2932-2934)Cct>Tct	p.P978S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	978	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGACACCCTGGACAGAG	0.577													6	65					0	0	1	0	0	T	137690287	C	T	137690287	3	4	341	1	0	0	0	0	1	0	0	0	3696	623	22	2	3078	2	COL5A1	9	137690287	Missense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08		137690287	3523144	10	5757											
MMS19	64210	broad.mit.edu	37	chr10	99220481	99220481	+	Frame_Shift_Del	DEL	G	G	-													aaggcaggagctgagaggatGgtatctgagcactagggcct							TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:99220481delG	uc001kns.4	-	24	2665	c.2440delC	c.(2440-2442)catfs	p.H814fs	MMS19_uc001knq.3_Frame_Shift_Del_p.H77fs|MMS19_uc009xvs.3_Frame_Shift_Del_p.H399fs|MMS19_uc009xvt.3_Frame_Shift_Del_p.H558fs|MMS19_uc001knr.3_Frame_Shift_Del_p.H655fs|MMS19_uc010qox.2_Frame_Shift_Del_p.H792fs|MMS19_uc001knt.3_Frame_Shift_Del_p.H814fs|MMS19_uc001knu.1_Non-coding_Transcript	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae) (MMS19), mRNA.	814					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	MMXD complex|cytoplasm|holo TFIIH complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTGAGAGGATGGTATCTGAGC	0.488								Direct reversal of damage					2	4	---	---	---	---						-	99220481	G	-	99220481	7	5	341	1	0	1	0	1	0	0	0	0	9672	1348	47	0	680	0	MMS19	10	99220481	Frame_Shift_Del	DEL	G	TCGA-FE-A22Z-01A-11D-A17V-08		99220481	36314266	11	5758											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105365619	105365619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgactggaattcggcaatgGtgtagtactccacctcaaca	9	11	1	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:105365619G>A	uc001kxj.1	-	12	1420	c.1280C>T	c.(1279-1281)aCc>aTc	p.T427I	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.T262I|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.T304I|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.T262I|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.T370I	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	455					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCGGCAATGGTGTAGTACTC	0.537											OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	38					0	0	1	0	0	A	105365619	G	A	105365619	3	1	341	1	0	0	0	0	1	0	0	0	14256	1261	44	2	2045	2	SH3PXD2A	10	105365619	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	6145138	105365619	30169128	12	5759											
SORCS3	22986	broad.mit.edu	37	chr10	106974207	106974207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattctacttaggtatcggCggattgtgtccaacaactgc	9	10	1	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:106974207C>T	uc001kyi.1	+	17	2610	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	795						integral to membrane	neuropeptide receptor activity	p.R794R(1)|p.R795R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TAGGTATCGGCGGATTGTGTC	0.483													8	15					0	0	1	0	0	T	106974207	C	T	106974207	3	4	341	1	0	0	0	0	1	0	0	0	14932	759	27	1	2453	1	SORCS3	10	106974207	Missense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08	1608588	106974207	28560540	13	5760											
TACC2	10579	broad.mit.edu	37	chr10	123970987	123970987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccccaattttaacccTttttcttccacctcaaaaat	2	13	2	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:123970987T>C	uc001lfv.3	+	8	7407	c.7047T>C	c.(7045-7047)ccT>ccC	p.P2349P	TACC2_uc001lfw.3_Silent_p.P495P|TACC2_uc009xzx.3_Silent_p.P2304P|TACC2_uc010qtv.2_Silent_p.P2353P|TACC2_uc001lfx.3_Silent_p.P53P|TACC2_uc001lfy.3_Silent_p.P53P|TACC2_uc001lfz.3_Silent_p.P427P|TACC2_uc001lga.3_Silent_p.P427P|TACC2_uc009xzy.3_Silent_p.P427P|TACC2_uc001lgb.3_Silent_p.P384P|TACC2_uc010qtw.1_Silent_p.P444P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2349	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding	p.N2348S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATTTTAACCCTTTTTCTTCCA	0.468													4	219					0	0	1	0	0	C	123970987	T	C	123970987	2	2	341	1	0	0	0	0	0	0	0	1	15499	1596	56	3		3	TACC2	10	123970987	Silent	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08	16996780	123970987	11563760	14	5761											
JAKMIP3	282973	broad.mit.edu	37	chr10	133930583	133930583	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcgctgttgtctttcaggtCagcaaagtggaacgcgagaa	12	9	3	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:133930583C>T	uc001lkx.4	+	1	138	c.138C>T	c.(136-138)gtC>gtT	p.V46V		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTTTCAGGTCAGCAAAGTGG	0.572													9	32					0	0	1	0	0	T	133930583	C	T	133930583	2	4	341	1	0	0	0	0	0	0	0	1	7942	813	29	2		2	JAKMIP3	10	133930583	Silent	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08	9959596	133930583	1604164	15	5762											
CTSW	1521	broad.mit.edu	37	chr11	65651008	65651008	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcaccgagggagcaaTacctgtggcatcaccaagtt	12	12	1	0			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr11:65651008T>C	uc001ogc.1	+	9	1092	c.1050T>C	c.(1048-1050)aaT>aaC	p.N350N		NM_001335	NP_001326	P56202	CATW_HUMAN	Homo sapiens cathepsin W (CTSW), mRNA.	350					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		GAGGGAGCAATACCTGTGGCA	0.622													47	77					0	0	1	0	0	C	65651008	T	C	65651008	2	2	341	1	0	0	0	0	0	0	0	1	4042	1403	49	3		3	CTSW	11	65651008	Silent	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08		65651008	69355508	16	5763											
DCPS	28960	broad.mit.edu	37	chr11	126201357	126201357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctgcagaagtacctgcGccaggacctccgcctgatcc	9	17	0	2			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr11:126201357G>A	uc001qdp.3	+	2	763	c.434G>A	c.(433-435)cGc>cAc	p.R145H		NM_014026	NP_054745	Q96C86	DCPS_HUMAN	Homo sapiens decapping enzyme, scavenger (DCPS), mRNA.	145					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	p.R145H(2)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		AAGTACCTGCGCCAGGACCTC	0.557													4	96					0	0	1	0	0	A	126201357	G	A	126201357	3	1	341	1	0	0	0	0	1	0	0	0	4301	1087	38	1	444	1	DCPS	11	126201357	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	60550349	126201357	8805159	17	5764											
RAI1	10743	broad.mit.edu	37	chr17	17696275	17696275	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgagtcatgcagtcttttCgagaaaggtgtggtttccat	11	9	2	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr17:17696275C>T	uc002grm.3	+	2	482	c.13C>T	c.(13-15)Cga>Tga	p.R5*	RAI1_uc002grn.1_Nonsense_Mutation_p.R5*	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	5						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTCTTTTCGAGAAAGGTG	0.562													17	10					0	0	1	0	0	T	17696275	C	T	17696275	4	4	341	1	0	0	0	0	0	1	0	0	13007	876	31	1	15	1	RAI1	17	17696275	Nonsense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08		17696275	63498935	18	5765											
HDAC5	10014	broad.mit.edu	37	chr17	42170141	42170141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggccgctctggggaggGgaactctggtccaaagaagc	19	9	2	1			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr17:42170141G>A	uc002iff.1	-	6	1010	c.678C>T	c.(676-678)tcC>tcT	p.S226S	HDAC5_uc002ifd.1_Silent_p.S225S|HDAC5_uc002ife.1_Silent_p.S225S|HDAC5_uc010czp.1_Silent_p.S225S|HDAC5_uc002ifh.2_Silent_p.S225S	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	225					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCTGGGGAGGGGAACTCTGGT	0.642													11	20					0	0	1	0	0	A	42170141	G	A	42170141	2	1	341	1	0	0	0	0	0	0	0	1	7010	1219	43	2		2	HDAC5	17	42170141	Silent	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	24473866	42170141	39025069	19	5766											
MIB1	57534	broad.mit.edu	37	chr18	19378075	19378075	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagttggccgagtacaacagAtttattcagacagtgattta	9	6	1	3			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr18:19378075A>T	uc002ktq.3	+	7	1123	c.1123A>T	c.(1123-1125)Att>Ttt	p.I375F	MIB1_uc002ktp.3_Missense_Mutation_p.I14F	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	375					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AGTACAACAGATTTATTCAGA	0.378													10	33					0	0	1	0	0	T	19378075	A	T	19378075	3	4	341	1	0	0	0	0	1	0	0	0	9566	333	12	5	1153	5	MIB1	18	19378075	Missense_Mutation	SNP	A	TCGA-FE-A22Z-01A-11D-A17V-08		19378075	58699173	20	5767											
CTSA	5476	broad.mit.edu	37	chr20	44520006	44520007	+	Frame_Shift_Ins	INS	-	-	T													ctcctggagagcaaggacgcINSgggggagcagaggtgagctg							TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr20:44520006_44520007insT	uc002xqh.3	+	0	416_417	c.42_43insT	c.(40-45)cgcgggfs	p.R14fs	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.4_5'UTR|CTSA_uc010zxi.2_Frame_Shift_Ins_p.R14fs|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	0					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGCAAGGACGCGGGGGAGCAGA	0.698													2	4	---	---	---	---						T	44520007	-	T	44520006	7	5	341	1	0	1	1	0	0	0	0	0	4029	755	27	0	44	0	CTSA	20	44520006	Frame_Shift_Ins	INS	-	TCGA-FE-A22Z-01A-11D-A17V-08		44520006	18505514	21	5768											
PPEF1	5475	broad.mit.edu	37	chrX	18842187	18842187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttccagaatatccgcattGaaaaacctgtacaagaggca	8	10	0	3			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:18842187G>A	uc004cyq.3	+	16	2129	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PPEF1_uc004cyp.3_Missense_Mutation_p.E522K|PPEF1_uc004cyr.3_Missense_Mutation_p.E488K|PPEF1_uc004cys.3_Missense_Mutation_p.E550K|PPEF1_uc011mja.2_Missense_Mutation_p.E485K|PPEF1_uc011mjb.2_Missense_Mutation_p.E494K	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	550					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATCCGCATTGAAAAACCTGT	0.463													13	27					0	0	1	0	0	A	18842187	G	A	18842187	3	1	341	1	0	0	0	0	1	0	0	0	12307	1291	45	2	1702	2	PPEF1	23	18842187	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08		18842187	136428373	22	5769											
USP9X	8239	broad.mit.edu	37	chrX	40988337	40988337	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgatgccccaccacagcttGaagatgaggaacctgcattt	10	11	0	4			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:40988337G>T	uc004dfb.3	+	2	814	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	USP9X_uc004dfc.3_Nonsense_Mutation_p.E61*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	61					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCACAGCTTGAAGATGAGGA	0.458													14	15					0	0	1	0	0	T	40988337	G	T	40988337	4	4	341	1	0	0	0	0	0	1	0	0	17087	1291	45	4	187	4	USP9X	23	40988337	Nonsense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	22146150	40988337	114282223	23	5770											
CENPI	2491	broad.mit.edu	37	chrX	100383791	100383791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagccagtcttgctgagGttttattactggttgagtca	12	6	2	3			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:100383791G>A	uc004egx.3	+	10	1431	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	CENPI_uc011mrg.2_Silent_p.R387R|CENPI_uc004egy.3_Silent_p.R387R	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	387					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCTTGCTGAGGTTTTATTACT	0.413													25	43					0	0	1	0	0	A	100383791	G	A	100383791	2	1	341	1	0	0	0	0	0	0	0	1	3233	1252	44	2		2	CENPI	23	100383791	Silent	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	59395454	100383791	54886769	24	5771											
F8	2157	broad.mit.edu	37	chrX	154157148	154157148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggtgacttctatttcGggcttattttgtccctcatt	8	11	2	1	rs147629393		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:154157148G>A	uc004fmt.3	-	13	5088	c.4917C>T	c.(4915-4917)ccC>ccT	p.P1639P		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1639	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.P1639P(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTCTATTTCGGGCTTATTTT	0.423													25	77					0	0	1	0	0	A	154157148	G	A	154157148	2	1	341	1	0	0	0	0	0	0	0	1	5350	1103	39	1		1	F8	23	154157148	Silent	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	53773357	154157148	1113412	25	5772											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156692	26156692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtgaagaagaaggcccGcaagtctgcaggtgcggcca	14	12	1	3			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr6:26156692G>A	uc003ngq.3	+	0	134	c.74G>A	c.(73-75)cGc>cAc	p.R25H	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	25					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.R25P(2)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGAAGGCCCGCAAGTCTGCA	0.647													4	104					0	0	1	0	0	A	26156692	G	A	26156692	3	1	342	1	0	0	0	0	1	0	0	0	7126	1087	38	1	76	1	HIST1H1E	6	26156692	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08		26156692	144958375	1	5773											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	24					0	0	1	0	0	T	140453136	A	T	140453136	3	4	342	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A230-01A-11D-A14W-08		140453136	18685527	2	5774											
NRG1	3084	broad.mit.edu	37	chr8	32505799	32505799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcttgccgtccactgCgccatccttcccttcaccca	4	19	3	0			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr8:32505799C>T	uc003xiy.3	+	0	1549	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NRG1_uc022ats.1_Intron|NRG1_uc003xip.3_Intron|NRG1_uc003xir.3_Intron|NRG1_uc010lvl.3_Intron|NRG1_uc010lvm.3_Intron|NRG1_uc010lvn.3_Intron|NRG1_uc003xis.3_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Intron|NRG1_uc003xiv.2_Intron|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.3_Intron	NM_013959	NP_039253	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant SMDF, mRNA.	445	EGF-like.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCGTCCACTGCGCCATCCTTC	0.507													17	38					0	0	1	0	0	T	32505799	C	T	32505799	3	4	342	1	0	0	0	0	1	0	0	0	10647	768	27	1	1838	1	NRG1	8	32505799	Missense_Mutation	SNP	C	TCGA-FE-A230-01A-11D-A14W-08		32505799	113858223	3	5775											
CCDC41	51134	broad.mit.edu	37	chr12	94794732	94794732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcatagcgaagcttattaTatacagctctatacttttct	5	8	3	0			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr12:94794732T>C	uc001tdd.3	-	5	1029	c.443A>G	c.(442-444)tAt>tGt	p.Y148C	CCDC41_uc001tde.3_Missense_Mutation_p.Y148C|CCDC41_uc009zsw.1_Non-coding_Transcript|CCDC41_uc001tdf.3_Missense_Mutation_p.Y148C	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	140										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AAGCTTATTATATACAGCTCT	0.303													22	46					0	0	1	0	0	C	94794732	T	C	94794732	3	2	342	1	0	0	0	0	1	0	0	0	2813	1406	49	3	1710	3	CCDC41	12	94794732	Missense_Mutation	SNP	T	TCGA-FE-A230-01A-11D-A14W-08		94794732	39057163	4	5776											
WDR83	84292	broad.mit.edu	37	chr19	12780673	12780673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttgaagacgctggactgCgggcagggggcagtgcgagc	20	9	0	2			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr19:12780673C>T	uc002mue.4	+	2	414	c.69C>T	c.(67-69)tgC>tgT	p.C23C	WDR83_uc002muc.3_Non-coding_Transcript|WDR83OS_uc002mud.2_5'Flank|WDR83_uc010dyw.3_Silent_p.C23C	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.	23					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CGCTGGACTGCGGGCAGGGGG	0.617													5	139					0	0	1	0	0	T	12780673	C	T	12780673	2	4	342	1	0	0	0	0	0	0	0	1	17329	776	27	1		1	WDR83	19	12780673	Silent	SNP	C	TCGA-FE-A230-01A-11D-A14W-08		12780673	46348310	5	5777											
NLRP11	204801	broad.mit.edu	37	chr19	56320297	56320297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagagcatccacaatcGtcttcacaaattcttcttcc	4	14	4	1			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr19:56320297G>A	uc010ygf.2	-	4	2390	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	NLRP11_uc002qlz.3_Missense_Mutation_p.T461M|NLRP11_uc002qmb.3_Missense_Mutation_p.T461M|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	560							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATCCACAATCGTCTTCACAAA	0.428													21	112					0	0	1	0	0	A	56320297	G	A	56320297	3	1	342	1	0	0	0	0	1	0	0	0	10473	1145	40	1	1454	1	NLRP11	19	56320297	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08	43539624	56320297	2808686	6	5778											
RASSF2	9770	broad.mit.edu	37	chr20	4776561	4776561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcgaatgggccggcGcaggccccaggagatgttca	16	12	1	1			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr20:4776561G>A	uc002wld.3	-	3	241	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Missense_Mutation_p.R63C	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	63					cell cycle|signal transduction	nucleus	protein binding	p.R63H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ATGGGCCGGCGCAGGCCCCAG	0.592													4	69					0	0	1	0	0	A	4776561	G	A	4776561	3	1	342	1	0	0	0	0	1	0	0	0	13086	1087	38	1	825	1	RASSF2	20	4776561	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08		4776561	58248959	7	5779											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994590	45994590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccagcagggctgctgcGtgcccgtctgctgcaagcct	13	14	1	0			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr21:45994590G>A	uc002zfk.1	+	0	985	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	319	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GGGCTGCTGCGTGCCCGTCTG	0.622													7	214					0	0	1	0	0	A	45994590	G	A	45994590	3	1	342	1	0	0	0	0	1	0	0	0	8511	1145	40	1	957	1	KRTAP10-4	21	45994590	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08		45994590	2135305	8	5780											
RASAL2	9462	broad.mit.edu	37	chr1	178269183	178269183	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaccaaagggcgatgcctGaggagaactgtcagtgtccc	12	12	1	2			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr1:178269183G>A	uc001glq.3	+	2	1151	c.387G>A	c.(385-387)ctG>ctA	p.L129L	RASAL2_uc009wxb.2_Silent_p.L129L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGCGATGCCTGAGGAGAACTG	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	84					0	0	1	0	0	A	178269183	G	A	178269183	2	1	343	1	0	0	0	0	0	0	0	1	13064	1277	45	2		2	RASAL2	1	178269183	Silent	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		178269183	70981438	1	5781											
ABCG8	64241	broad.mit.edu	37	chr2	44104811	44104811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcgggaacctcaccatcgCggtctcaggagataaagtaa	10	11	3	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr2:44104811C>A	uc002rtq.3	+	11	1958	c.1868C>A	c.(1867-1869)gCg>gAg	p.A623E	ABCG8_uc010yoa.2_Missense_Mutation_p.A622E	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	623	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCACCATCGCGGTCTCAGGA	0.498											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	71					0	0	1	0	0	A	44104811	C	A	44104811	3	1	343	1	0	0	0	0	1	0	0	0	72	768	27	4	1914	4	ABCG8	2	44104811	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		44104811	199094562	2	5782											
CTBP1	1487	broad.mit.edu	37	chr4	1206720	1206720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctataggcagccccattgaGctcagggtgcacgacggcgg	14	13	1	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr4:1206720G>A	uc003gcw.3	-	7	1285	c.1120C>T	c.(1120-1122)Ctc>Ttc	p.L374F	AX747592_uc003gcs.1_Intron|CTBP1_uc003gcu.1_Missense_Mutation_p.L363F|CTBP1_uc003gcv.1_Missense_Mutation_p.L374F	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	374					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCCCCATTGAGCTCAGGGTGC	0.662													3	63					0	0	1	0	0	A	1206720	G	A	1206720	3	1	343	1	0	0	0	0	1	0	0	0	3997	971	34	2	210	2	CTBP1	4	1206720	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		1206720	189947556	3	5783											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555009	178555009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcttcagggcccactcGtagaccacagagtcctcttc	7	16	3	2			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr5:178555009G>A	uc003mjw.3	-	16	2670	c.2568C>T	c.(2566-2568)taC>taT	p.Y856Y		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	856	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y856Y(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGCCCACTCGTAGACCACAG	0.582													60	63					0	0	1	0	0	A	178555009	G	A	178555009	2	1	343	1	0	0	0	0	0	0	0	1	265	1140	40	1		1	ADAMTS2	5	178555009	Silent	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		178555009	2360251	4	5784											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	35					0	0	1	0	0	T	140453136	A	T	140453136	3	4	343	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		140453136	18685527	5	5785											
TRPA1	8989	broad.mit.edu	37	chr8	72946042	72946042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctggattatagaaagcAatggagagctgaagggatcc	14	5	1	3			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr8:72946042A>G	uc003xza.3	-	22	2880	c.2705T>C	c.(2704-2706)tTg>tCg	p.L902S	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	902						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TATAGAAAGCAATGGAGAGCT	0.393													14	26					0	0	1	0	0	G	72946042	A	G	72946042	3	3	343	1	0	0	0	0	1	0	0	0	16574	131	5	3	674	3	TRPA1	8	72946042	Missense_Mutation	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		72946042	73417980	6	5786											
RRP8	23378	broad.mit.edu	37	chr11	6622217	6622217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtcaaagcaatgcacaGggttccggatacttgaagcc	10	11	1	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:6622217G>A	uc001med.3	-	3	1134	c.986C>T	c.(985-987)cCt>cTt	p.P329L	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	329			P -> S (in dbSNP:rs17834692).		chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GCAATGCACAGGGTTCCGGAT	0.547													7	75					0	0	1	0	0	A	6622217	G	A	6622217	3	1	343	1	0	0	0	0	1	0	0	0	13690	1000	35	2	400	2	RRP8	11	6622217	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		6622217	128384299	7	5787											
PRDX5	25824	broad.mit.edu	37	chr11	64085693	64085693	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggggcgggtatgggActagctggcgtgtgcgccct	20	10	0	0			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:64085693A>C	uc001nzu.3	+	0	134	c.6A>C	c.(4-6)ggA>ggC	p.G2G	TRMT112_uc001nzt.3_5'Flank|PRDX5_uc001nzv.3_Silent_p.G2G|PRDX5_uc001nzw.3_Silent_p.G2G	NM_012094	NP_036226	P30044	PRDX5_HUMAN	Homo sapiens peroxiredoxin 5 (PRDX5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	2					cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CGGGTATGGGACTAGCTGGCG	0.697													11	20					0	0	1	0	0	C	64085693	A	C	64085693	2	2	343	1	0	0	0	0	0	0	0	1	12468	262	10	5		5	PRDX5	11	64085693	Silent	SNP	A	TCGA-FE-A231-01A-11D-A14W-08	57463476	64085693	70920823	8	5788											
MIPOL1	145282	broad.mit.edu	37	chr14	37838730	37838730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgtggcagtgcaaacgGttagagcaggagcttcatca	12	11	2	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr14:37838730G>A	uc001wud.3	+	11	1479	c.837G>A	c.(835-837)cgG>cgA	p.R279R	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.4_Silent_p.R248R|MIPOL1_uc010ams.3_Silent_p.R279R|MIPOL1_uc001wuc.3_Silent_p.R279R|MIPOL1_uc001wue.3_Silent_p.R248R|MIPOL1_uc010amt.3_Silent_p.R98R	NM_001195297	NP_001182226	Q8TD10	MIPO1_HUMAN	Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.	279										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGTGCAAACGGTTAGAGCAGG	0.393													3	42					0	0	1	0	0	A	37838730	G	A	37838730	2	1	343	1	0	0	0	0	0	0	0	1	9593	1248	44	2		2	MIPOL1	14	37838730	Silent	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		37838730	69510810	9	5789											
TLN2	83660	broad.mit.edu	37	chr15	62995030	62995030	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtggggatcttctgagacaGattggagagaatgagactga	15	4	2	5			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr15:62995030G>C	uc002alb.4	+	15	1971	c.1971G>C	c.(1969-1971)caG>caC	p.Q657H		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	657					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTCTGAGACAGATTGGAGAGA	0.468													29	31					0	0	1	0	0	C	62995030	G	C	62995030	3	2	343	1	0	0	0	0	1	0	0	0	15945	933	33	4	2033	4	TLN2	15	62995030	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		62995030	39536362	10	5790											
C16orf48	84080	broad.mit.edu	37	chr16	67697198	67697198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccagcaggcagcagtaCcagctcacgcagcagctggc	12	16	1	0	rs138813287	byFrequency	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr16:67697198C>T	uc002etw.1	-	6	1190	c.907G>A	c.(907-909)Gta>Ata	p.V303I	ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Missense_Mutation_p.V185I	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	Homo sapiens chromosome 16 open reading frame 48 (C16orf48), mRNA.	303						microtubule cytoskeleton	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	10		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCAGCAGTACCAGCTCACGC	0.652													28	92					0	0	1	0	0	T	67697198	C	T	67697198	3	4	343	1	0	0	0	0	1	0	0	0	1816	507	18	2	137	2	C16orf48	16	67697198	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		67697198	22657555	11	5791											
ATP2C2	9914	broad.mit.edu	37	chr16	84456271	84456271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggaaagctctcagttcGgagaagtgtttaagatgatg	14	5	1	3			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr16:84456271G>A	uc010chj.3	+	8	900	c.811G>A	c.(811-813)Gga>Aga	p.G271R	ATP2C2_uc002fhx.3_Missense_Mutation_p.G271R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G288R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G120R	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	271					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTCTCAGTTCGGAGAAGTGTT	0.502													31	259					0	0	1	0	0	A	84456271	G	A	84456271	3	1	343	1	0	0	0	0	1	0	0	0	1144	1117	39	1	845	1	ATP2C2	16	84456271	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08	16759073	84456271	5898482	12	5792											
QRICH2	84074	broad.mit.edu	37	chr17	74288474	74288474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggttgtgccaaaccatgCtgatccactccaggttggac	10	13	0	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr17:74288474C>T	uc002jrd.1	-	3	2016	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	612	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAAACCATGCTGATCCACTC	0.537													3	57					0	0	1	0	0	T	74288474	C	T	74288474	2	4	343	1	0	0	0	0	0	0	0	1	12880	796	28	2		2	QRICH2	17	74288474	Silent	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		74288474	6906736	13	5793											
PLCB4	5332	broad.mit.edu	37	chr20	9388617	9388617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcatcttataaatatgtAggtgctaccactaatatcca	6	8	1	0			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:9388617A>G	uc021wam.1	+	17	1680	c.1665A>G	c.(1663-1665)gtA>gtG	p.V555V	PLCB4_uc010gbw.1_Silent_p.V555V|PLCB4_uc010gbx.3_Silent_p.V567V|PLCB4_uc021wal.1_Silent_p.V555V|PLCB4_uc002wnh.3_Silent_p.V402V	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	555					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATAAATATGTAGGTGCTACCA	0.428													3	141					0	0	1	0	0	G	9388617	A	G	9388617	2	3	343	1	0	0	0	0	0	0	0	1	12030	407	15	3		3	PLCB4	20	9388617	Silent	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		9388617	53636903	14	5794											
EIF2S2	8894	broad.mit.edu	37	chr20	32677564	32677564	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctttggcacggagctgtgctCgcttgcccgtgacagcctgg	14	13	0	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:32677564C>G	uc002xaf.3	-	8	1143	c.974G>C	c.(973-975)cGa>cCa	p.R325P		NM_003908	NP_003899	P20042	IF2B_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.	325						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GAGCTGTGCTCGCTTGCCCGT	0.473													25	42					0	0	1	0	0	G	32677564	C	G	32677564	3	3	343	1	0	0	0	0	1	0	0	0	5010	884	31	4	31	4	EIF2S2	20	32677564	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08	23288947	32677564	30347956	15	5795											
TSHZ2	128553	broad.mit.edu	37	chr20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgatgccgacagtgcagcGcggcctatgacaccctagtc	11	15	0	1	rs141167641	by1000genomes	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													10	29					0	0	1	0	0	A	51870661	G	A	51870661	3	1	343	1	0	0	0	0	1	0	0	0	16621	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08	19193097	51870661	11154859	16	5796											
PANX2	56666	broad.mit.edu	37	chr22	50615510	50615510	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgctgtttgagcacaagttCctgccctacgcgctgctggc	11	14	0	1			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr22:50615510C>T	uc003bjn.4	+	1	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F	PANX2_uc003bjp.4_5'UTR|PANX2_uc003bjo.4_Silent_p.F123F	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	123					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AGCACAAGTTCCTGCCCTACG	0.697													8	14					0	0	1	0	0	T	50615510	C	T	50615510	2	4	343	1	0	0	0	0	0	0	0	1	11421	854	30	2		2	PANX2	22	50615510	Silent	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		50615510	689056	17	5797											
ASH1L	55870	broad.mit.edu	37	chr1	155491033	155491033	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggttttttagttctcttaGcctggaggccaattttcaat	9	7	2	0			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr1:155491033G>C	uc009wqq.3	-	1	758	c.278C>G	c.(277-279)gCt>gGt	p.A93G	ASH1L_uc001fkt.3_Missense_Mutation_p.A93G|ASH1L_uc009wqr.1_Missense_Mutation_p.A93G	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	93					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTTCTCTTAGCCTGGAGGCC	0.383													8	222					0	0	1	0	0	C	155491033	G	C	155491033	3	2	344	1	0	0	0	0	1	0	0	0	1041	971	34	4	8724	4	ASH1L	1	155491033	Missense_Mutation	SNP	G	TCGA-FE-A232-01A-11D-A14W-08		155491033	93759588	1	5798											
CHST10	9486	broad.mit.edu	37	chr2	101009934	101009934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccagggtctcgtggtGtccaatcacactgtacatta	9	12	2	0			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr2:101009934G>A	uc002tam.3	-	6	1242	c.844C>T	c.(844-846)Cac>Tac	p.H282Y		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	282					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTCTCGTGGTGTCCAATCACA	0.522													21	90					0	0	1	0	0	A	101009934	G	A	101009934	3	1	344	1	0	0	0	0	1	0	0	0	3398	1377	48	2	230	2	CHST10	2	101009934	Missense_Mutation	SNP	G	TCGA-FE-A232-01A-11D-A14W-08		101009934	142189439	2	5799											
KIF4B	285643	broad.mit.edu	37	chr5	154393468	154393468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagagtggcactgcgttgtCgccctctggtccccaaagag	12	12	1	2			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr5:154393468C>T	uc010jih.1	+	0	209	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	17	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R17H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCGTTGTCGCCCTCTGGT	0.542													16	59					0	0	1	0	0	T	154393468	C	T	154393468	3	4	344	1	0	0	0	0	1	0	0	0	8304	884	31	1	51	1	KIF4B	5	154393468	Missense_Mutation	SNP	C	TCGA-FE-A232-01A-11D-A14W-08		154393468	26521792	3	5800											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				20	47					0	0	1	0	0	T	140453136	A	T	140453136	3	4	344	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		140453136	18685527	4	5801											
RBM17	84991	broad.mit.edu	37	chr10	6150700	6150700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctggtagagaaagacaAagagtgtaagtagatctgtt	11	4	2	4			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr10:6150700A>C	uc001ijb.3	+	5	783	c.557A>C	c.(556-558)aAa>aCa	p.K186T	RBM17_uc010qav.2_Missense_Mutation_p.K186T	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.	186					RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GAGAAAGACAAAGAGTGTAAG	0.488											OREG0019990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	19					0	0	1	0	0	C	6150700	A	C	6150700	3	2	344	1	0	0	0	0	1	0	0	0	13119	14	1	5	575	5	RBM17	10	6150700	Missense_Mutation	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		6150700	129384047	5	5802											
CACNA1C	775	broad.mit.edu	37	chr12	2614030	2614030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgatgccgtaggaagggActggccctggatctattttg	13	8	1	1			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:2614030A>G	uc009zdu.1	+	7	1449	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G	CACNA1C_uc001qkc.2_Missense_Mutation_p.D379G|CACNA1C_uc001qjz.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkd.2_Missense_Mutation_p.D379G|CACNA1C_uc001qke.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkf.2_Missense_Mutation_p.D379G|CACNA1C_uc009zdw.1_Missense_Mutation_p.D379G|CACNA1C_uc001qkg.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkh.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkl.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkp.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkq.2_Missense_Mutation_p.D379G|CACNA1C_uc001qku.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkr.2_Missense_Mutation_p.D379G|CACNA1C_uc001qks.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkt.2_Missense_Mutation_p.D379G|CACNA1C_uc009zdv.1_Missense_Mutation_p.D376G|CACNA1C_uc001qkb.2_Missense_Mutation_p.D379G|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	379					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.N378K(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTAGGAAGGGACTGGCCCTGG	0.512													10	17					0	0	1	0	0	G	2614030	A	G	2614030	3	3	344	1	0	0	0	0	1	0	0	0	2540	275	10	3	1274	3	CACNA1C	12	2614030	Missense_Mutation	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		2614030	131237865	6	5803											
UTP20	27340	broad.mit.edu	37	chr12	101685754	101685754	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttttgcaggtgttaTctcaaacactgcaagtagcc	7	9	2	0			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:101685754T>A	uc001tia.1	+	9	1201	c.1045T>A	c.(1045-1047)Tct>Act	p.S349T		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	349					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCAGGTGTTATCTCAAACACT	0.423													4	157					0	0	1	0	0	A	101685754	T	A	101685754	3	1	344	1	0	0	0	0	1	0	0	0	17096	1435	50	5	1083	5	UTP20	12	101685754	Missense_Mutation	SNP	T	TCGA-FE-A232-01A-11D-A14W-08	99071724	101685754	32166141	7	5804											
IFT140	9742	broad.mit.edu	37	chr16	1570247	1570247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagtccagggactgcaggTagttagcagccatgatgtag	14	9	0	1			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:1570247T>C	uc002cmb.3	-	27	4120	c.3758A>G	c.(3757-3759)tAc>tGc	p.Y1253C	IFT140_uc002clz.3_Missense_Mutation_p.Y866C	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1253										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGACTGCAGGTAGTTAGCAGC	0.562													4	110					0	0	1	0	0	C	1570247	T	C	1570247	3	2	344	1	0	0	0	0	1	0	0	0	7556	1638	57	3	646	3	IFT140	16	1570247	Missense_Mutation	SNP	T	TCGA-FE-A232-01A-11D-A14W-08		1570247	88784506	8	5805											
COG7	91949	broad.mit.edu	37	chr16	23453819	23453819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcctgagaggtgaatgCcgctacaatctgtggactgg	13	9	1	2			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:23453819C>T	uc002dlo.3	-	3	780	c.583G>A	c.(583-585)Gca>Aca	p.A195T		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	195					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGGTGAATGCCGCTACAATC	0.458													4	99					0	0	1	0	0	T	23453819	C	T	23453819	3	4	344	1	0	0	0	0	1	0	0	0	3663	739	26	2	1785	2	COG7	16	23453819	Missense_Mutation	SNP	C	TCGA-FE-A232-01A-11D-A14W-08	21883572	23453819	66900934	9	5806											
C16orf87	388272	broad.mit.edu	37	chr16	46843651	46843651	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtagaatttatcttctcTctcctaactctctctgttcg	4	12	5	1			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:46843651T>C	uc002eek.1	-	2	223	c.210A>G	c.(208-210)agA>agG	p.R70R		NM_001001436	NP_001001436	Q6PH81	CP087_HUMAN	Homo sapiens chromosome 16 open reading frame 87 (C16orf87), mRNA.	70										large_intestine(4)|urinary_tract(1)	5						TTATCTTCTCTCTCCTAACTC	0.388													3	115					0	0	1	0	0	C	46843651	T	C	46843651	2	2	344	1	0	0	0	0	0	0	0	1	1840	1548	54	3		3	C16orf87	16	46843651	Silent	SNP	T	TCGA-FE-A232-01A-11D-A14W-08	23389832	46843651	43511102	10	5807											
BRIP1	83990	broad.mit.edu	37	chr17	59761320	59761320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacggggaggactagaggcActattctctgatgacccgag	13	9	1	3			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr17:59761320A>G	uc002izk.2	-	19	3393	c.3087T>C	c.(3085-3087)agT>agC	p.S1029S		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	1029	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GACTAGAGGCACTATTCTCTG	0.403			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					4	107					0	0	1	0	0	G	59761320	A	G	59761320	2	3	344	1	0	0	0	0	0	0	0	1	1514	156	6	3		3	BRIP1	17	59761320	Silent	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		59761320	21433890	11	5808											
OR10Z1	128368	broad.mit.edu	37	chr1	158576999	158576999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cattatggctgtgcttccttCgtgtacctgaggcccaaagc	10	12	0	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr1:158576999C>A	uc010pio.2	+	0	771	c.771C>A	c.(769-771)ttC>ttA	p.F257L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTTCCTTCGTGTACCTGA	0.493													14	267					0	0	1	0	0	A	158576999	C	A	158576999	3	1	345	1	0	0	0	0	1	0	0	0	10923	883	31	4	773	4	OR10Z1	1	158576999	Missense_Mutation	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		158576999	90673622	1	5809											
LSAMP	4045	broad.mit.edu	37	chr3	115571362	115571362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgacttgtttgacatccGccgaggagacctcgttggca	11	12	0	3			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr3:115571362G>A	uc011bis.2	-	3	1124	c.617C>T	c.(616-618)gCg>gTg	p.A206V	LSAMP_uc003ebs.3_Missense_Mutation_p.A206V	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	206	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.S205S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TTTGACATCCGCCGAGGAGAC	0.527													29	37					0	0	1	0	0	A	115571362	G	A	115571362	3	1	345	1	0	0	0	0	1	0	0	0	9048	1087	38	1	415	1	LSAMP	3	115571362	Missense_Mutation	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		115571362	82451068	2	5810											
KIF13A	63971	broad.mit.edu	37	chr6	17765031	17765031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagacccgtgagtttgaCagatctactttagaggaaaa	9	8	1	5			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr6:17765031C>T	uc003ncg.4	-	38	4888	c.4728G>A	c.(4726-4728)ctG>ctA	p.L1576L	KIF13A_uc003ncf.3_Silent_p.L1528L|KIF13A_uc003nch.4_Silent_p.L1541L|KIF13A_uc003nci.4_Silent_p.L1528L|KIF13A_uc003nce.2_Silent_p.L127L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1576					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTGAGTTTGACAGATCTACTT	0.473													3	34					0	0	1	0	0	T	17765031	C	T	17765031	2	4	345	1	0	0	0	0	0	0	0	1	8274	465	17	2		2	KIF13A	6	17765031	Silent	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		17765031	153350036	3	5811											
PKHD1	5314	broad.mit.edu	37	chr6	51523917	51523917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgctccttactgttggCgaatcaccaatttcaatgac	7	12	2	1	rs142855690	by1000genomes	TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr6:51523917C>T	uc003pah.1	-	60	11283	c.11007G>A	c.(11005-11007)tcG>tcA	p.S3669S		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3669					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACTGTTGGCGAATCACCAA	0.423													11	184					0	0	1	0	0	T	51523917	C	T	51523917	2	4	345	1	0	0	0	0	0	0	0	1	11971	755	27	1		1	PKHD1	6	51523917	Silent	SNP	C	TCGA-FE-A233-01A-11D-A14W-08	33758886	51523917	119591150	4	5812											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	45					0	0	1	0	0	T	140453136	A	T	140453136	3	4	345	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A233-01A-11D-A14W-08		140453136	18685527	5	5813											
TMEM26	219623	broad.mit.edu	37	chr10	63170274	63170274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgccaatgccagcaccaCcaagcggtagagttgcaaca	10	13	0	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr10:63170274C>T	uc001jlo.2	-	5	1282	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	305						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCAGCACCACCAAGCGGTAG	0.532													8	49					0	0	1	0	0	T	63170274	C	T	63170274	3	4	345	1	0	0	0	0	1	0	0	0	16148	507	18	2	197	2	TMEM26	10	63170274	Missense_Mutation	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		63170274	72364473	6	5814											
RAD51AP1	10635	broad.mit.edu	37	chr12	4657258	4657258	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttattccttatatttagGcattgaaaaacatggcagta	6	6	1	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr12:4657258G>A	uc001qmw.3	+	6	527	c.371_splice	c.e6-1	p.S124_splice	RAD51AP1_uc001qmu.3_Splice_Site_p.S107_splice|RAD51AP1_uc010sep.2_Splice_Site|RAD51AP1_uc010seq.2_Splice_Site|RAD51AP1_uc009zeg.3_5'Flank	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.	124					double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TTATATTTAGGCATTGAAAAA	0.254													6	118					0	0	1	0	0	A	4657258	G	A	4657258	5	1	345	1	0	0	0	0	0	0	1	0	12986	1217	42	2	393	2	RAD51AP1	12	4657258	Splice_Site	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		4657258	129194637	7	5815											
ITGBL1	9358	broad.mit.edu	37	chr13	102235682	102235682	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtagagctgtctatgacCgatattctgatgacttctgt	9	8	3	4			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr13:102235682C>A	uc001vpb.3	+	5	1063	c.844C>A	c.(844-846)Cga>Aga	p.R282R	ITGBL1_uc010agb.3_Silent_p.R233R|ITGBL1_uc001vpc.4_Silent_p.R141R	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	282	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTCTATGACCGATATTCTGA	0.458													74	101					0	0	1	0	0	A	102235682	C	A	102235682	2	1	345	1	0	0	0	0	0	0	0	1	7902	644	23	4		4	ITGBL1	13	102235682	Silent	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		102235682	12934196	8	5816											
CDH8	1006	broad.mit.edu	37	chr16	61687975	61687975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatggttcatttttatgcCgccgtagagttacaaacagc	8	8	1	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr16:61687975C>T	uc002eog.2	-	11	2892	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	646					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R646Q(2)|p.R646L(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTTTTATGCCGCCGTAGAGT	0.393													5	98					0	0	1	0	0	T	61687975	C	T	61687975	3	4	345	1	0	0	0	0	1	0	0	0	3116	652	23	1	466	1	CDH8	16	61687975	Missense_Mutation	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		61687975	28666778	9	5817											
MAP3K15	389840	broad.mit.edu	37	chrX	19506981	19506981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcggcatcggtgtcatGgtacaagatcacattattgg	12	7	2	1			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chrX:19506981G>T	uc022btq.1	-	1	466	c.466C>A	c.(466-468)Cat>Aat	p.H156N		NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	156							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCGGTGTCATGGTACAAGATC	0.458													44	106					0	0	1	0	0	T	19506981	G	T	19506981	3	4	345	1	0	0	0	0	1	0	0	0	9249	1348	47	4	3587	4	MAP3K15	23	19506981	Missense_Mutation	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		19506981	135763579	10	5818											
KIAA0754	643314	broad.mit.edu	37	chr1	39877399	39877399	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctagttgagctacagAatcaaatctcttctgaaggg	8	10	4	3			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr1:39877399A>T	uc009vvt.1	+	0	2224	c.1462A>T	c.(1462-1464)Aat>Tat	p.N488Y	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	352										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGCTACAGAATCAAATCTC	0.423													23	69					0	0	1	0	0	T	39877399	A	T	39877399	3	4	346	1	0	0	0	0	1	0	0	0	8192	246	9	5	1464	5	KIAA0754	1	39877399	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08		39877399	209373222	1	5819											
DTNBP1	84062	broad.mit.edu	37	chr6	15615571	15615571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaattcacactgcccacAtaagtcttccagatgcagca	5	13	3	1	rs149346386		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:15615571A>G	uc003nbm.3	-	5	604	c.415T>C	c.(415-417)Tgt>Cgt	p.C139R	DTNBP1_uc003nbl.3_Missense_Mutation_p.C58R|DTNBP1_uc010jph.3_Missense_Mutation_p.C126R|DTNBP1_uc003nbp.3_Missense_Mutation_p.C139R	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	139					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CACTGCCCACATAAGTCTTCC	0.383									Hermansky-Pudlak syndrome				4	91					0	0	1	0	0	G	15615571	A	G	15615571	3	3	346	1	0	0	0	0	1	0	0	0	4790	217	8	3	761	3	DTNBP1	6	15615571	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08		15615571	155499496	2	5820											
MUC21	394263	broad.mit.edu	37	chr6	30954379	30954379	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaactctgactccagcacaAcctccagtggggctagcaca	8	16	1	1			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:30954379A>T	uc003nsh.2	+	1	678	c.427A>T	c.(427-429)Acc>Tcc	p.T143S	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.T127S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	143	28 X 15 AA approximate tandem repeats.|Ser-rich.			T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321).		integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGCACAACCTCCAGTGG	0.617													11	251					0	0	1	0	0	T	30954379	A	T	30954379	3	4	346	1	0	0	0	0	1	0	0	0	9977	43	2	5	433	5	MUC21	6	30954379	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	15338808	30954379	140160688	3	5821											
TRRAP	8295	broad.mit.edu	37	chr7	98501102	98501102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaaaggagcttctgaTtgctgccaaacacatcctca	7	13	3	2			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr7:98501102T>C	uc003upp.3	+	11	1207	c.998T>C	c.(997-999)aTt>aCt	p.I333T	TRRAP_uc011kis.2_Missense_Mutation_p.I333T|TRRAP_uc003upr.3_Missense_Mutation_p.I25T	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	333					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCTTCTGATTGCTGCCAAA	0.488													3	111					0	0	1	0	0	C	98501102	T	C	98501102	3	2	346	1	0	0	0	0	1	0	0	0	16598	1493	52	3	1040	3	TRRAP	7	98501102	Missense_Mutation	SNP	T	TCGA-FE-A234-01A-11D-A14W-08		98501102	60637561	4	5822											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	14					0	0	1	0	0	T	140453136	A	T	140453136	3	4	346	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	41952034	140453136	18685527	5	5823											
RAPGEF1	2889	broad.mit.edu	37	chr9	134455701	134455701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaactgctgccaccgcTtggagaagttcactttcccg	10	12	1	2			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr9:134455701T>C	uc022bos.1	-	22	3245	c.3086A>G	c.(3085-3087)aAg>aGg	p.K1029R	RAPGEF1_uc022bot.1_Missense_Mutation_p.K1011R	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	1011	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGCCACCGCTTGGAGAAGTT	0.637													7	25					0	0	1	0	0	C	134455701	T	C	134455701	3	2	346	1	0	0	0	0	1	0	0	0	13043	1609	56	3	209	3	RAPGEF1	9	134455701	Missense_Mutation	SNP	T	TCGA-FE-A234-01A-11D-A14W-08		134455701	6757730	6	5824											
OR5M3	219482	broad.mit.edu	37	chr11	56237294	56237294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccttccttctgctgagCgcattcgcagaatggcaatg	10	12	2	2	rs144814707		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr11:56237294C>T	uc010rjk.2	-	0	721	c.680G>A	c.(679-681)cGc>cAc	p.R227H	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTCTGCTGAGCGCATTCGCAG	0.418													11	13					0	0	1	0	0	T	56237294	C	T	56237294	3	4	346	1	0	0	0	0	1	0	0	0	11175	768	27	1	245	1	OR5M3	11	56237294	Missense_Mutation	SNP	C	TCGA-FE-A234-01A-11D-A14W-08		56237294	78769222	7	5825											
SEMA7A	8482	broad.mit.edu	37	chr15	74710610	74710610	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccccctcccccactcaccCgcttatccagacaggacccc	4	23	1	1			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr15:74710610C>A	uc002axv.3	-	3	412	c.372_splice	c.e3+1	p.R124_splice	SEMA7A_uc010ulk.2_Splice_Site|SEMA7A_uc010ull.2_Intron	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	124	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCCACTCACCCGCTTATCCAG	0.582													3	46					0	0	1	0	0	A	74710610	C	A	74710610	5	1	346	1	0	0	0	0	0	0	1	0	14043	666	23	4	1677	4	SEMA7A	15	74710610	Splice_Site	SNP	C	TCGA-FE-A234-01A-11D-A14W-08		74710610	27820782	8	5826											
MBTPS1	8720	broad.mit.edu	37	chr16	84089661	84089661	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggggacaagggcctcacttGagggcgattcgatcgaaagt	15	8	1	1			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr16:84089661G>T	uc002fhi.3	-	21	3413	c.2911C>A	c.(2911-2913)Caa>Aaa	p.Q971K	MBTPS1_uc002fhh.3_Missense_Mutation_p.Q475K	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	971					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	p.Q971H(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCCTCACTTGAGGGCGATTC	0.493													25	67					0	0	1	0	0	T	84089661	G	T	84089661	3	4	346	1	0	0	0	0	1	0	0	0	9361	1299	45	4	255	4	MBTPS1	16	84089661	Missense_Mutation	SNP	G	TCGA-FE-A234-01A-11D-A14W-08		84089661	6265092	9	5827											
ANKRD27	84079	broad.mit.edu	37	chr19	33137489	33137489	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaggcaaaaccagctccTaatttaatcctgttcccttg	6	12	0	1			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:33137489T>C	uc002ntn.1	-	3	402	c.246A>G	c.(244-246)ttA>ttG	p.L82L	ANKRD27_uc002nto.1_Silent_p.L82L	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	82					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AACCAGCTCCTAATTTAATCC	0.473													3	53					0	0	1	0	0	C	33137489	T	C	33137489	2	2	346	1	0	0	0	0	0	0	0	1	655	1519	53	3		3	ANKRD27	19	33137489	Silent	SNP	T	TCGA-FE-A234-01A-11D-A14W-08		33137489	25991494	10	5828											
RYR1	6261	broad.mit.edu	37	chr19	38934209	38934209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgcagtcatcccagggCgggggacacaggacgctcct	13	16	1	0	rs139629035	byFrequency	TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:38934209C>T	uc002oit.3	+	3	412	c.282C>T	c.(280-282)ggC>ggT	p.G94G	RYR1_uc002oiu.3_Silent_p.G94G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	94					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCCCAGGGCGGGGGACACA	0.632													16	27					0	0	1	0	0	T	38934209	C	T	38934209	2	4	346	1	0	0	0	0	0	0	0	1	13768	755	27	1		1	RYR1	19	38934209	Silent	SNP	C	TCGA-FE-A234-01A-11D-A14W-08	5796720	38934209	20194774	11	5829											
ERF	2077	broad.mit.edu	37	chr19	42754077	42754077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtcttgtgcagaatgCgcttgttatagtaatagctg	11	7	1	1			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:42754077C>T	uc002ote.4	-	2	433	c.275G>A	c.(274-276)cGc>cAc	p.R92H	ERF_uc002otd.4_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	92					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGCAGAATGCGCTTGTTATA	0.478													4	162					0	0	1	0	0	T	42754077	C	T	42754077	3	4	346	1	0	0	0	0	1	0	0	0	5221	768	27	1	1379	1	ERF	19	42754077	Missense_Mutation	SNP	C	TCGA-FE-A234-01A-11D-A14W-08	3819868	42754077	16374906	12	5830											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377662	49377662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgaagtcctgggtctAtcagccaggagaggacacag	12	10	3	2	rs142855954		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:49377662A>G	uc002pky.4	+	1	1441	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	391	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCCTGGGTCTATCAGCCAGGA	0.527													4	159					0	0	1	0	0	G	49377662	A	G	49377662	3	3	346	1	0	0	0	0	1	0	0	0	12363	449	16	3	1174	3	PPP1R15A	19	49377662	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	6623585	49377662	9751321	13	5831											
NLRP4	147945	broad.mit.edu	37	chr19	56369469	56369469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacagcttcgaagagctgcAgggcggcttgaacgaacccg	14	12	0	2			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:56369469A>G	uc002qmd.4	+	2	1132	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	NLRP4_uc002qmf.3_Missense_Mutation_p.Q162R|NLRP4_uc010etf.3_Missense_Mutation_p.Q68R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	237	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGAGCTGCAGGGCGGCTTG	0.542													4	101					0	0	1	0	0	G	56369469	A	G	56369469	3	3	346	1	0	0	0	0	1	0	0	0	10479	188	7	3	716	3	NLRP4	19	56369469	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	6991807	56369469	2759514	14	5832											
DRP2	1821	broad.mit.edu	37	chrX	100486665	100486665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatggtcatgcagggatgccCttacaccctcccacgatgtc	9	14	1	0			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chrX:100486665C>A	uc004egz.2	+	2	398	c.29C>A	c.(28-30)cCt>cAt	p.P10H	DRP2_uc011mrh.1_Intron	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	10					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGGGATGCCCTTACACCCTC	0.537													4	181					0	0	1	0	0	A	100486665	C	A	100486665	3	1	346	1	0	0	0	0	1	0	0	0	4764	681	24	4	31	4	DRP2	23	100486665	Missense_Mutation	SNP	C	TCGA-FE-A234-01A-11D-A14W-08		100486665	54783895	15	5833											
NPR1	4881	broad.mit.edu	37	chr1	153660571	153660571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgagcagccccccttccGgccctccctggccctgcaga	12	19	0	2			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr1:153660571G>A	uc001fcs.4	+	14	2712	c.2291G>A	c.(2290-2292)cGg>cAg	p.R764Q	NPR1_uc010pdz.2_Missense_Mutation_p.R510Q|NPR1_uc010pea.2_Missense_Mutation_p.R242Q	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	764	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCCCCCTTCCGGCCCTCCCTG	0.657													26	44					0	0	1	0	0	A	153660571	G	A	153660571	3	1	347	1	0	0	0	0	1	0	0	0	10594	1116	39	1	2349	1	NPR1	1	153660571	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08		153660571	95590050	1	5834											
KCNN3	3782	broad.mit.edu	37	chr1	154841828	154841828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagctggaggggttggcCctcagtctcggcctcgatga	15	10	2	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr1:154841828C>T	uc021pah.1	-	0	927	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	KCNN3_uc001ffp.3_Missense_Mutation_p.G205S|KCNN3_uc009wox.1_Missense_Mutation_p.G205S	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	210						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGGGGTTGGCCCTCAGTCTCG	0.632													32	33					0	0	1	0	0	T	154841828	C	T	154841828	3	4	347	1	0	0	0	0	1	0	0	0	8080	623	22	2	1636	2	KCNN3	1	154841828	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08	1181257	154841828	94408793	2	5835											
TIA1	7072	broad.mit.edu	37	chr2	70439917	70439917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacatgctgccattttgCccttgaggcggttgcactcc	11	13	0	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr2:70439917C>T	uc002sgj.4	-	12	1312	c.1095G>A	c.(1093-1095)ggG>ggA	p.G365G	TIA1_uc002sgk.4_Silent_p.G354G|TIA1_uc002sgl.4_Non-coding_Transcript	NM_022173	NP_071505	P31483	TIA1_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein (TIA1), transcript variant 2, mRNA.	365					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGCCATTTTGCCCTTGAGGCG	0.502													4	130					0	0	1	0	0	T	70439917	C	T	70439917	2	4	347	1	0	0	0	0	0	0	0	1	15884	726	26	2		2	TIA1	2	70439917	Silent	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		70439917	172759456	3	5836											
SLC2A9	56606	broad.mit.edu	37	chr4	9982230	9982230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcacctttcccagcagctCgggcaggcccagaagctgcc	10	17	1	1	rs147289616	byFrequency	TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr4:9982230C>T	uc003gmc.3	-	4	728	c.667G>A	c.(667-669)Gag>Aag	p.E223K	SLC2A9_uc003gmd.3_Missense_Mutation_p.E194K	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	223					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCCAGCAGCTCGGGCAGGCCC	0.567													5	49					0	0	1	0	0	T	9982230	C	T	9982230	3	4	347	1	0	0	0	0	1	0	0	0	14552	893	31	1	987	1	SLC2A9	4	9982230	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		9982230	181172046	4	5837											
FIP1L1	81608	broad.mit.edu	37	chr4	54310242	54310242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggttatgatagtcgTtctgcacgtgcatttccata	8	10	2	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr4:54310242T>C	uc003hae.3	+	3	267	c.11T>C	c.(10-12)gTt>gCt	p.V4A	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzy.3_Silent_p.R419R|PDGFRA_uc011bzu.2_Silent_p.R413R|PDGFRA_uc003gzz.3_Silent_p.R345R|PDGFRA_uc003hab.3_Silent_p.R384R|PDGFRA_uc010ign.3_Non-coding_Transcript	NM_001134937	NP_001128409	Q6UN15	FIP1_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 2, mRNA.	0	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATGATAGTCGTTCTGCACGTG	0.303			T	PDGFRA	idiopathic hypereosinophilic syndrome								3	82					0	0	1	0	0	C	54310242	T	C	54310242	3	2	347	1	0	0	0	0	1	0	0	0	5896	1712	60	3	1346	3	FIP1L1	4	54310242	Missense_Mutation	SNP	T	TCGA-FE-A235-01A-11D-A16O-08	44328012	54310242	136844034	5	5838											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68939712	68939712	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgcctacagaagaatgtcGaaatatcctagacatctgat	7	10	1	4			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr4:68939712G>A	uc003hdt.1	-	3	347	c.298C>T	c.(298-300)Cga>Tga	p.R100*	LOC550112_uc003hdl.4_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	100	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAAGAATGTCGAAATATCCTA	0.244													10	16					0	0	1	0	0	A	68939712	G	A	68939712	4	1	347	1	0	0	0	0	0	1	0	0	16240	1066	37	1	1046	1	TMPRSS11F	4	68939712	Nonsense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	14629470	68939712	122214564	6	5839											
PRDM9	56979	broad.mit.edu	37	chr5	23526762	23526762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaggaatctcaagaattgCaaaagtcaagtatggagagt	12	4	2	2			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr5:23526762C>T	uc003jgo.3	+	10	1747	c.1565C>T	c.(1564-1566)gCa>gTa	p.A522V		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	522					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAAGAATTGCAAAAGTCAAG	0.433										HNSCC(3;0.000094)			5	71					0	0	1	0	0	T	23526762	C	T	23526762	3	4	347	1	0	0	0	0	1	0	0	0	12463	710	25	2	1603	2	PRDM9	5	23526762	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		23526762	157388498	7	5840											
STC2	8614	broad.mit.edu	37	chr5	172752921	172752921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtcatgcaaatcccatGtaagccccgaatctcacaag	6	12	2	0			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr5:172752921G>A	uc003mco.1	-	1	1554	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	STC2_uc003mcn.1_5'UTR	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	82					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAAATCCCATGTAAGCCCCGA	0.468													12	373					0	0	1	0	0	A	172752921	G	A	172752921	3	1	347	1	0	0	0	0	1	0	0	0	15275	1377	48	2	676	2	STC2	5	172752921	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	149226159	172752921	8162339	8	5841											
SLC22A2	6582	broad.mit.edu	37	chr6	160664756	160664757	+	Frame_Shift_Del	DEL	AT	AT	-													agtagaagaaatccaggtagAtattgtcacctgcaaggccc							TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr6:160664756_160664757delAT	uc003qtf.3	-	6	1300_1301	c.1126_1127delAT	c.(1126-1128)atcfs	p.I376fs		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	376					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ATCCAGGTAGATATTGTCACCT	0.535													41	56	---	---	---	---						-	160664757	AT	-	160664756	7	5	347	1	0	1	0	1	0	0	0	0	14450	333	12	0	560	0	SLC22A2	6	160664756	Frame_Shift_Del	DEL	AT	TCGA-FE-A235-01A-11D-A16O-08		160664756	10450311	9	5842											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	59					0	0	1	0	0	T	140453136	A	T	140453136	3	4	347	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A235-01A-11D-A16O-08		140453136	18685527	10	5843											
IARS	3376	broad.mit.edu	37	chr9	95030578	95030578	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttttctcgtaccaactctgGgaccctgcaataaacagatc	6	12	2	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr9:95030578G>C	uc004art.1	-	13	1566	c.1309C>G	c.(1309-1311)Cca>Gca	p.P437A	IARS_uc004ars.1_Missense_Mutation_p.P282A|IARS_uc004aru.3_Missense_Mutation_p.P437A|IARS_uc010mqr.2_Missense_Mutation_p.P327A|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	437					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACCAACTCTGGGACCCTGCAA	0.418													15	139					0	0	1	0	0	C	95030578	G	C	95030578	3	2	347	1	0	0	0	0	1	0	0	0	7473	1232	43	4	2563	4	IARS	9	95030578	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08		95030578	46182853	11	5844											
APOA4	337	broad.mit.edu	37	chr11	116693873	116693873	+	Frame_Shift_Del	DEL	A	A	-													actcaccggcgacagccaccAgggccagggtcaggaccacg							TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr11:116693873delA	uc001pps.1	-	0	139	c.35delT	c.(34-36)ctgfs	p.L12fs		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GACAGCCACCAGGGCCAGGGT	0.592													107	140	---	---	---	---						-	116693873	A	-	116693873	7	5	347	1	0	1	0	1	0	0	0	0	783	188	7	0	1167	0	APOA4	11	116693873	Frame_Shift_Del	DEL	A	TCGA-FE-A235-01A-11D-A16O-08		116693873	18312643	12	5845											
CACNA1G	8913	broad.mit.edu	37	chr17	48680555	48680555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcggaccctgcgcccGctcaggtgactccctcccca	10	20	1	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr17:48680555G>A	uc002irk.1	+	20	4536	c.4164G>A	c.(4162-4164)ccG>ccA	p.P1388P	CACNA1G_uc002iri.1_Silent_p.P1388P|CACNA1G_uc002irj.1_Silent_p.P1365P|CACNA1G_uc002irl.1_Silent_p.P1365P|CACNA1G_uc002irm.1_Silent_p.P1365P|CACNA1G_uc002irn.1_Silent_p.P1365P|CACNA1G_uc002iro.1_Silent_p.P1365P|CACNA1G_uc002irp.1_Silent_p.P1388P|CACNA1G_uc002irq.1_Silent_p.P1365P|CACNA1G_uc002irr.1_Silent_p.P1388P|CACNA1G_uc002irs.1_Silent_p.P1388P|CACNA1G_uc002irt.1_Silent_p.P1388P|CACNA1G_uc002iru.1_Silent_p.P1365P|CACNA1G_uc002irv.1_Silent_p.P1388P|CACNA1G_uc002irw.1_Silent_p.P1365P|CACNA1G_uc002irx.1_Silent_p.P1301P|CACNA1G_uc002iry.1_Silent_p.P1301P|CACNA1G_uc002isg.1_Silent_p.P1301P|CACNA1G_uc002ish.1_Silent_p.P1301P|CACNA1G_uc002isi.1_Silent_p.P1278P|CACNA1G_uc002irz.1_Silent_p.P1301P|CACNA1G_uc002isa.1_Silent_p.P1301P|CACNA1G_uc002isd.1_Silent_p.P1301P|CACNA1G_uc002isb.1_Silent_p.P1301P|CACNA1G_uc002isc.1_Silent_p.P1301P|CACNA1G_uc002ise.1_Silent_p.P1301P|CACNA1G_uc002isf.1_Silent_p.P1301P|CACNA1G_uc002isj.3_Silent_p.P112P	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1388					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCTGCGCCCGCTCAGGTGAC	0.637													10	17					0	0	1	0	0	A	48680555	G	A	48680555	2	1	347	1	0	0	0	0	0	0	0	1	2544	1074	38	1		1	CACNA1G	17	48680555	Silent	SNP	G	TCGA-FE-A235-01A-11D-A16O-08		48680555	32514655	13	5846											
ANKRD5	63926	broad.mit.edu	37	chr20	10025188	10025188	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgctaaaggaggctttttCgatgtaataatctattcttt	8	6	2	0			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr20:10025188C>T	uc002wno.3	+	4	1086	c.693C>T	c.(691-693)ttC>ttT	p.F231F	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.F231F|ANKRD5_uc010gbz.3_Silent_p.F42F	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	231							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GAGGCTTTTTCGATGTAATAA	0.358													4	101					0	0	1	0	0	T	10025188	C	T	10025188	2	4	347	1	0	0	0	0	0	0	0	1	676	883	31	1		1	ANKRD5	20	10025188	Silent	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		10025188	53000332	14	5847											
TRO	7216	broad.mit.edu	37	chrX	54954164	54954164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttcttctggggcttgCgctcctaccacgagactagc	11	12	2	2			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chrX:54954164C>T	uc004dtq.3	+	10	1935	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C	TRO_uc004dts.3_Missense_Mutation_p.R610C|TRO_uc004dtr.3_Missense_Mutation_p.R610C|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Missense_Mutation_p.R213C|TRO_uc011mok.2_Missense_Mutation_p.R141C|TRO_uc004dtw.3_Missense_Mutation_p.R213C|TRO_uc004dtx.3_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	610	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.R610C(3)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTGGGGCTTGCGCTCCTACCA	0.483													4	93					0	0	1	0	0	T	54954164	C	T	54954164	3	4	347	1	0	0	0	0	1	0	0	0	16571	768	27	1	1866	1	TRO	23	54954164	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		54954164	100316396	15	5848											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298907	125298907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgctggcgctggcgcGgatccaggaaggagacgtgg	18	9	1	1			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chrX:125298907G>A	uc004euk.2	-	0	1174	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	334								p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGCTGGCGCGGATCCAGGAA	0.617													49	81					0	0	1	0	0	A	125298907	G	A	125298907	3	1	347	1	0	0	0	0	1	0	0	0	4265	1116	39	1	394	1	DCAF12L2	23	125298907	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	70344743	125298907	29971653	16	5849											
PHF6	84295	broad.mit.edu	37	chrX	133527567	133527567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgtcctggagcaacaattGgttgtgatgtgaaaacatgt	11	5	0	2			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chrX:133527567G>T	uc004exj.3	+	3	479	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	PHF6_uc004exk.3_Missense_Mutation_p.G93C|PHF6_uc011mvk.2_Missense_Mutation_p.G59C|PHF6_uc004exh.3_Missense_Mutation_p.G93C|PHF6_uc010nrr.3_Missense_Mutation_p.G93C|PHF6_uc004exi.3_Missense_Mutation_p.G93C	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AGCAACAATTGGTTGTGATGT	0.368			"F, N, Splice, Mis"		ETP ALL								15	167					0	0	1	0	0	T	133527567	G	T	133527567	3	4	347	1	0	0	0	0	1	0	0	0	11838	1348	47	4	287	4	PHF6	23	133527567	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	8228660	133527567	21742993	17	5850											
CIAO1	9391	broad.mit.edu	37	chr2	96933105	96933105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgaaggccaccagcgCaccgtgcggaaggtagcctg	13	13	1	1			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr2:96933105C>T	uc002svs.3	+	1	391	c.186C>T	c.(184-186)cgC>cgT	p.R62R	TMEM127_uc002svq.3_5'Flank|TMEM127_uc002svr.3_5'Flank	NM_004804	NP_004795	O76071	CIAO1_HUMAN	Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA.	62					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						GCCACCAGCGCACCGTGCGGA	0.577													58	112					0	0	1	0	0	T	96933105	C	T	96933105	2	4	348	1	0	0	0	0	0	0	0	1	3418	697	25	2		2	CIAO1	2	96933105	Silent	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		96933105	146266268	1	5851											
CHN1	1123	broad.mit.edu	37	chr2	175673728	175673728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaccagtgataatgttgAtatcttcatacatgttcaca	7	8	3	2			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr2:175673728A>G	uc002uji.3	-	10	1348	c.1007T>C	c.(1006-1008)aTc>aCc	p.I336T	CHN1_uc010zeq.2_Missense_Mutation_p.I310T|CHN1_uc002ujj.3_Missense_Mutation_p.I111T|CHN1_uc002ujg.3_Missense_Mutation_p.I211T	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	336	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GATAATGTTGATATCTTCATA	0.348			T	TAF15	extraskeletal myxoid chondrosarcoma								21	117					0	0	1	0	0	G	175673728	A	G	175673728	3	3	348	1	0	0	0	0	1	0	0	0	3362	333	12	3	384	3	CHN1	2	175673728	Missense_Mutation	SNP	A	TCGA-FE-A236-01A-11D-A16O-08	78740623	175673728	67525645	2	5852											
ZBBX	79740	broad.mit.edu	37	chr3	167051707	167051707	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attctcctctttgggttcatCtggattaacatcctttataa	5	9	4	0			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr3:167051707C>T	uc011bpc.2	-	9	932	c.595G>A	c.(595-597)Gat>Aat	p.D199N	ZBBX_uc003feq.3_Missense_Mutation_p.D170N|ZBBX_uc003fep.3_Missense_Mutation_p.D199N	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	199						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGGGTTCATCTGGATTAACA	0.338													26	31					0	0	1	0	0	T	167051707	C	T	167051707	3	4	348	1	0	0	0	0	1	0	0	0	17513	913	32	2	1855	2	ZBBX	3	167051707	Missense_Mutation	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		167051707	30970723	3	5853											
BRIX1	55299	broad.mit.edu	37	chr5	34923115	34923115	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatttttataggcttttgatGaattaccacattatgctttg	6	5	0	2			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr5:34923115G>A	uc003jja.3	+	6	544	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	BRIX1_uc011col.1_3'UTR	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.	174	Brix.				ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GGCTTTTGATGAATTACCACA	0.279													44	85					0	0	1	0	0	A	34923115	G	A	34923115	3	1	348	1	0	0	0	0	1	0	0	0	1515	1291	45	2	546	2	BRIX1	5	34923115	Missense_Mutation	SNP	G	TCGA-FE-A236-01A-11D-A16O-08		34923115	145992145	4	5854											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	46					0	0	1	0	0	T	140453136	A	T	140453136	3	4	348	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A236-01A-11D-A16O-08		140453136	18685527	5	5855											
KCNK18	338567	broad.mit.edu	37	chr10	118960781	118960781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctctttttctgctgcaCggtgttcagcaccgtgggta	11	12	3	0			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr10:118960781C>T	uc010qsr.2	+	1	335	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	112						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTGCTGCACGGTGTTCAGC	0.562													31	61					0	0	1	0	0	T	118960781	C	T	118960781	3	4	348	1	0	0	0	0	1	0	0	0	8065	536	19	1	341	1	KCNK18	10	118960781	Missense_Mutation	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		118960781	16573966	6	5856											
TMEM100	55273	broad.mit.edu	37	chr17	53798052	53798052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacaagcttctctgatttGccacgagagctgtttgactc	8	11	1	3			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr17:53798052G>T	uc002iuj.4	-	1	691	c.380C>A	c.(379-381)gCa>gAa	p.A127E	TMEM100_uc002iuk.4_Missense_Mutation_p.A127E|TMEM100_uc021uai.1_Missense_Mutation_p.A127E	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	127						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCTCTGATTTGCCACGAGAGC	0.483													20	101					0	0	1	0	0	T	53798052	G	T	53798052	3	4	348	1	0	0	0	0	1	0	0	0	16012	1319	46	4	28	4	TMEM100	17	53798052	Missense_Mutation	SNP	G	TCGA-FE-A236-01A-11D-A16O-08		53798052	27397158	7	5857											
PEG3	5178	broad.mit.edu	37	chr19	57328594	57328594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggacagcctttttgatCgtgaatcgagcccttcccat	9	13	0	2			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr19:57328594C>T	uc002qnu.2	-	6	1567	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D377N|PEG3_uc002qnv.2_Missense_Mutation_p.D406N|PEG3_uc002qnw.2_Missense_Mutation_p.D282N|PEG3_uc002qnx.2_Missense_Mutation_p.D280N|PEG3_uc010etr.2_Missense_Mutation_p.D406N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	406					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H405H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTTTTGATCGTGAATCGAG	0.488													8	140					0	0	1	0	0	T	57328594	C	T	57328594	3	4	348	1	0	0	0	0	1	0	0	0	11720	884	31	1	3554	1	PEG3	19	57328594	Missense_Mutation	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		57328594	1800389	8	5858											
CHGB	1114	broad.mit.edu	37	chr20	5903597	5903597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggaaggtgaggaagaTgccacctctgaggtggacaa	15	7	2	4			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr20:5903597T>C	uc002wmg.3	+	3	1113	c.807T>C	c.(805-807)gaT>gaC	p.D269D	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	269						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGAGGAAGATGCCACCTCTG	0.612													8	18					0	0	1	0	0	C	5903597	T	C	5903597	2	2	348	1	0	0	0	0	0	0	0	1	3339	1461	51	3		3	CHGB	20	5903597	Silent	SNP	T	TCGA-FE-A236-01A-11D-A16O-08		5903597	57121923	9	5859											
CARD10	29775	broad.mit.edu	37	chr22	37900249	37900250	+	Frame_Shift_Del	DEL	GG	GG	-													cggaggatggagccggcactGggggggaagggcaggatgga							TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr22:37900249_37900250delGG	uc003asx.1	-	8	1594_1595	c.1577_1578delCC	c.(1576-1578)cccfs	p.P526fs	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Frame_Shift_Del_p.P240fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P526fs	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	526					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGGG	0.644													2	4	---	---	---	---						-	37900250	GG	-	37900249	7	5	348	1	0	1	0	1	0	0	0	0	2644	1335	47	0	1568	0	CARD10	22	37900249	Frame_Shift_Del	DEL	GG	TCGA-FE-A236-01A-11D-A16O-08		37900249	13404317	10	5860											
RCC1	1104	broad.mit.edu	37	chr1	28863397	28863397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcctctgtggggtatgCtgtgaccaaggatggtgagt	18	6	1	2			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr1:28863397C>T	uc001bqf.2	+	9	1254	c.1169C>T	c.(1168-1170)gCt>gTt	p.A390V	RCC1_uc001bqb.2_Missense_Mutation_p.A359V|RCC1_uc001bqa.2_Missense_Mutation_p.A359V|RCC1_uc001bqc.2_Missense_Mutation_p.A359V|RCC1_uc001bqe.2_Missense_Mutation_p.A376V|RCC1_uc001bqg.2_Missense_Mutation_p.A359V	NM_001048194	NP_001041659	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 1, mRNA.	359					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGGTATGCTGTGACCAAG	0.587													4	192					0	0	1	0	0	T	28863397	C	T	28863397	3	4	349	1	0	0	0	0	1	0	0	0	13173	797	28	2	1203	2	RCC1	1	28863397	Missense_Mutation	SNP	C	TCGA-FE-A237-01A-11D-A16O-08		28863397	220387224	1	5861											
ZNF502	91392	broad.mit.edu	37	chr3	44763193	44763193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacactggtgagaagccttAcatatgcagtgaatgtggct	11	8	1	2			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr3:44763193A>G	uc011baa.2	+	3	1139	c.884A>G	c.(883-885)tAc>tGc	p.Y295C	ZNF502_uc003cns.3_Missense_Mutation_p.Y295C|ZNF502_uc011bab.2_Missense_Mutation_p.Y295C|ZNF502_uc003cnt.3_Missense_Mutation_p.Y295C	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAGAAGCCTTACATATGCAGT	0.398													7	330					0	0	1	0	0	G	44763193	A	G	44763193	3	3	349	1	0	0	0	0	1	0	0	0	17947	391	14	3	890	3	ZNF502	3	44763193	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		44763193	153259237	2	5862											
CD200R1	131450	broad.mit.edu	37	chr3	112644003	112644004	+	Missense_Mutation	DNP	TG	TG	AA													ataatagtaaggatgatataTggaatatataattttgctga							TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr3:112644003_112644004TG>AA	uc003dzj.1	-	5	1039_1040	c.806_807CA>TT	c.(805-807)cca>cTT	p.P269L	CD200R1_uc003dzk.1_Missense_Mutation_p.P246L|CD200R1_uc011bhx.1_Intron	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	246					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GGATGATATATGGAATATATAA	0.297													5	62					0	0	1	0	0	AA	112644004	TG	AA	112644003	3	1	349	1	0	0	0	0	1	0	0	0	2981	1451	51	5	251	5	CD200R1	3	112644003	Missense_Mutation	DNP	TG	TCGA-FE-A237-01A-11D-A16O-08	67880810	112644003	85378427	3	5863											
CRIPAK	285464	broad.mit.edu	37	chr4	1389546	1389546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgccggccgagtcagAcgctgttaccgtacattcta	10	13	2	1			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr4:1389546A>G	uc003gdf.2	+	0	4207	c.1247A>G	c.(1246-1248)gAc>gGc	p.D416G		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	416	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCGAGTCAGACGCTGTTACC	0.502													3	95					0	0	1	0	0	G	1389546	A	G	1389546	3	3	349	1	0	0	0	0	1	0	0	0	3877	275	10	3	1249	3	CRIPAK	4	1389546	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		1389546	189764730	4	5864											
ZNF451	26036	broad.mit.edu	37	chr6	57012664	57012664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagctattactgttattgAtcattccccggcaaatagtt	6	9	2	1			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr6:57012664A>G	uc003pdm.1	+	9	2005	c.1781A>G	c.(1780-1782)gAt>gGt	p.D594G	ZNF451_uc003pdl.3_Missense_Mutation_p.D594G|ZNF451_uc003pdn.1_Missense_Mutation_p.D594G|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.D594G	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTGTTATTGATCATTCCCCG	0.408													3	73					0	0	1	0	0	G	57012664	A	G	57012664	3	3	349	1	0	0	0	0	1	0	0	0	17919	333	12	3	1819	3	ZNF451	6	57012664	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		57012664	114102403	5	5865											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	51					0	0	1	0	0	T	140453136	A	T	140453136	3	4	349	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		140453136	18685527	6	5866											
DNAH2	146754	broad.mit.edu	37	chr17	7667276	7667276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatggcagaacaagttcGcgactctgctcagggagatg	13	8	2	3			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr17:7667276G>A	uc002giu.1	+	17	3120	c.3106G>A	c.(3106-3108)Gcg>Acg	p.A1036T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1036	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAACAAGTTCGCGACTCTGCT	0.592													5	48					0	0	1	0	0	A	7667276	G	A	7667276	3	1	349	1	0	0	0	0	1	0	0	0	4602	1087	38	1	3176	1	DNAH2	17	7667276	Missense_Mutation	SNP	G	TCGA-FE-A237-01A-11D-A16O-08		7667276	73527934	7	5867											
PSG8	440533	broad.mit.edu	37	chr19	43259223	43259223	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatagggtcctgtttcatttCtcgtgacactgggtagaatg	12	7	2	2			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr19:43259223C>G	uc002ouo.2	-	3	1003	c.905G>C	c.(904-906)aGa>aCa	p.R302T	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.R302T|PSG8_uc010ein.3_Missense_Mutation_p.R180T|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	302	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTTTCATTTCTCGTGACACT	0.478													22	210					0	0	1	0	0	G	43259223	C	G	43259223	3	3	349	1	0	0	0	0	1	0	0	0	12661	913	32	4	404	4	PSG8	19	43259223	Missense_Mutation	SNP	C	TCGA-FE-A237-01A-11D-A16O-08		43259223	15869760	8	5868											
TSC22D3	1831	broad.mit.edu	37	chrX	107018377	107018377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtctggtcgatgttgcgGttgcagatgccctcgttgat	14	8	1	2			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chrX:107018377G>A	uc004enh.3	-	0	641	c.273C>T	c.(271-273)aaC>aaT	p.N91N	TSC22D3_uc004eni.3_Silent_p.N91N|TSC22D3_uc004enj.3_Silent_p.N91N	NM_198057	NP_932174	Q99576	T22D3_HUMAN	Homo sapiens TSC22 domain family, member 3 (TSC22D3), transcript variant 1, mRNA.	0	Leucine-zipper.						sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						CGATGTTGCGGTTGCAGATGC	0.597													4	107					0	0	1	0	0	A	107018377	G	A	107018377	2	1	349	1	0	0	0	0	0	0	0	1	16606	1252	44	2		2	TSC22D3	23	107018377	Silent	SNP	G	TCGA-FE-A237-01A-11D-A16O-08		107018377	48252183	9	5869											
STRN	6801	broad.mit.edu	37	chr2	37088300	37088300	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaatcataggggtcgatgttGggattagtggtattccagcc	14	6	1	0			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr2:37088300G>C	uc002rpn.3	-	12	1653	c.1644C>G	c.(1642-1644)ccC>ccG	p.P548P	STRN_uc010ezx.3_Silent_p.P511P	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	548					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGTCGATGTTGGGATTAGTGG	0.408													3	35					0	0	1	0	0	C	37088300	G	C	37088300	2	2	350	1	0	0	0	0	0	0	0	1	15328	1335	47	4		4	STRN	2	37088300	Silent	SNP	G	TCGA-FE-A23A-01A-11D-A17V-08		37088300	206111073	1	5870											
PAPOLG	64895	broad.mit.edu	37	chr2	60988874	60988874	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagcatttttttttatAggctggtggttcttggtaaa	10	4	2	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr2:60988874A>G	uc002sai.3	+	3	429	c.180_splice	c.e3-2	p.R60_splice	PAPOLG_uc002saj.3_Splice_Site|PAPOLG_uc002sak.3_Splice_Site	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	60					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTTTTTTATAGGCTGGTGGT	0.328													3	40					0	0	1	0	0	G	60988874	A	G	60988874	5	3	350	1	0	0	0	0	0	0	1	0	11431	434	15	3	188	3	PAPOLG	2	60988874	Splice_Site	SNP	A	TCGA-FE-A23A-01A-11D-A17V-08	23900574	60988874	182210499	2	5871											
CD109	135228	broad.mit.edu	37	chr6	74528131	74528131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcgggcccgggtaggaGtggcatggctcttatggaag	16	8	1	0			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr6:74528131G>A	uc003php.3	+	30	4363	c.3932G>A	c.(3931-3933)aGt>aAt	p.S1311N	CD109_uc003phq.3_Missense_Mutation_p.S1294N|CD109_uc010kba.3_Missense_Mutation_p.S1234N	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1311						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGGTAGGAGTGGCATGGCT	0.408													5	26					0	0	1	0	0	A	74528131	G	A	74528131	3	1	350	1	0	0	0	0	1	0	0	0	2963	1029	36	2	4054	2	CD109	6	74528131	Missense_Mutation	SNP	G	TCGA-FE-A23A-01A-11D-A17V-08		74528131	96586936	3	5872											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	21					0	0	1	0	0	T	140453136	A	T	140453136	3	4	350	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A23A-01A-11D-A17V-08		140453136	18685527	4	5873											
OR4L1	122742	broad.mit.edu	37	chr14	20528322	20528322	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatctacggtgctactgtgaTgggaaacattctcattatgg	11	7	2	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr14:20528322T>A	uc001vwn.1	+	0	119	c.119T>A	c.(118-120)aTg>aAg	p.M40K		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	40			M -> V (in dbSNP:rs1958716).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M40I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GCTACTGTGATGGGAAACATT	0.398													12	36					0	0	1	0	0	A	20528322	T	A	20528322	3	1	350	1	0	0	0	0	1	0	0	0	11074	1464	51	5	121	5	OR4L1	14	20528322	Missense_Mutation	SNP	T	TCGA-FE-A23A-01A-11D-A17V-08		20528322	86821218	5	5874											
SLC6A2	6530	broad.mit.edu	37	chr16	55732393	55732393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccagggtggaatttacGtcttgaccctcctggacacc	11	12	1	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr16:55732393G>A	uc021tio.1	+	9	1453	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	SLC6A2_uc002eif.3_Missense_Mutation_p.V468I|SLC6A2_uc002eig.3_Missense_Mutation_p.V468I|SLC6A2_uc002eii.3_Missense_Mutation_p.V363I|SLC6A2_uc002eij.3_Missense_Mutation_p.V182I|SLC6A2_uc021tip.1_5'Flank	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	468					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGAATTTACGTCTTGACCCT	0.522													7	43					0	0	1	0	0	A	55732393	G	A	55732393	3	1	350	1	0	0	0	0	1	0	0	0	14683	1145	40	1	1531	1	SLC6A2	16	55732393	Missense_Mutation	SNP	G	TCGA-FE-A23A-01A-11D-A17V-08		55732393	34622360	6	5875											
CIAPIN1	57019	broad.mit.edu	37	chr16	57474766	57474766	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcttatccaccagacctttCagagcctccactggggatga	9	13	1	3			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr16:57474766C>T	uc002ell.1	-	1	246	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CIAPIN1_uc002elm.1_Silent_p.L25L|CIAPIN1_uc010vhm.1_Silent_p.L25L	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN	Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA.	25					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CCAGACCTTTCAGAGCCTCCA	0.522													9	57					0	0	1	0	0	T	57474766	C	T	57474766	2	4	350	1	0	0	0	0	0	0	0	1	3419	813	29	2		2	CIAPIN1	16	57474766	Silent	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08	1742373	57474766	32879987	7	5876											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													3	69					0	0	1	0	0	G	9090831	A	G	9090831	2	3	350	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-FE-A23A-01A-11D-A17V-08		9090831	50038152	8	5877											
IRF3	3661	broad.mit.edu	37	chr19	50165681	50165681	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgcagctgacactcaCcttcccccggcaccaacagc	7	20	1	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr19:50165681C>T	uc002pow.3	-	5	854	c.601_splice	c.e5+1	p.E201_splice	IRF3_uc002poy.2_Splice_Site_p.E201_splice|IRF3_uc021uxp.1_Splice_Site_p.E55_splice|IRF3_uc021uxq.1_Splice_Site_p.E55_splice|IRF3_uc002pot.2_Splice_Site_p.D201_splice|IRF3_uc021uxr.1_Splice_Site_p.D55_splice|IRF3_uc021uxs.1_Splice_Site_p.D55_splice|IRF3_uc021uxo.1_Splice_Site_p.E166_splice|IRF3_uc002pou.3_Splice_Site_p.E201_splice|IRF3_uc010end.2_Splice_Site_p.E201_splice|IRF3_uc002poz.1_Splice_Site_p.E201_splice|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	NM_001197122	NP_001184051	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 2, mRNA.	201	Involved in HERC5 binding.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CTGACACTCACCTTCCCCCGG	0.662													6	16					0	0	1	0	0	T	50165681	C	T	50165681	5	4	350	1	0	0	0	0	0	0	1	0	7831	521	18	2	697	2	IRF3	19	50165681	Splice_Site	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08	41074850	50165681	8963302	9	5878											
HNRNPH2	3188	broad.mit.edu	37	chrX	100668067	100668067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcttcttaaattctaCtgcaggaacaagtgggggtg	13	7	3	0			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chrX:100668067C>T	uc004ehm.3	+	1	1331	c.1091C>T	c.(1090-1092)aCt>aTt	p.T364I	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehn.3_Missense_Mutation_p.T364I|HNRNPH2_uc022cai.1_Missense_Mutation_p.T364I	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	364	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.|RRM 3.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TTAAATTCTACTGCAGGAACA	0.433													39	93					0	0	1	0	0	T	100668067	C	T	100668067	3	4	350	1	0	0	0	0	1	0	0	0	7267	565	20	2	1093	2	HNRNPH2	23	100668067	Missense_Mutation	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08		100668067	54602493	10	5879											
ARHGAP4	393	broad.mit.edu	37	chrX	153186831	153186831	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaccttcttgaccaggCgccccacgtcctctgcaatg	8	18	3	1			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chrX:153186831C>G	uc004fjl.2	-	2	480	c.422G>C	c.(421-423)cGc>cCc	p.R141P	ARHGAP4_uc011mzf.2_Missense_Mutation_p.R118P|ARHGAP4_uc004fjk.2_Missense_Mutation_p.R141P|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001164741	NP_001158213	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 1, mRNA.	141					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGACCAGGCGCCCCACGTC	0.682													6	37					0	0	1	0	0	G	153186831	C	G	153186831	3	3	350	1	0	0	0	0	1	0	0	0	885	768	27	4	2622	4	ARHGAP4	23	153186831	Missense_Mutation	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08	52518764	153186831	2083729	11	5880											
PCDHGC5	56097	broad.mit.edu	37	chr5	140750149	140750149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgtgggggatttacctaCtaggaacctgcgggttattg	15	7	0	0			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr5:140750149C>T	uc003ljw.2	+	0	188	c.188C>T	c.(187-189)aCt>aTt	p.T63I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Missense_Mutation_p.T63I	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	61	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTACCTACTAGGAACCTG	0.547													49	130					0	0	1	0	0	T	140750149	C	T	140750149	3	4	351	1	0	0	0	0	1	0	0	0	11571	565	20	2		2	PCDHGC5	5	140750149	Missense_Mutation	SNP	C	TCGA-FE-A3PB-01A-11D-A21Z-08		140750149	40165111	1	5881											
PKHD1	5314	broad.mit.edu	37	chr6	51900392	51900392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggaatccacttaccctGggtggaactttgcactgaat	10	9	0	1			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr6:51900392G>A	uc003pah.1	-	27	3501	c.3225C>T	c.(3223-3225)ccC>ccT	p.P1075P	PKHD1_uc003pai.3_Silent_p.P1075P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1075	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.P1074S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACTTACCCTGGGTGGAACTT	0.393													4	138					0	0	1	0	0	A	51900392	G	A	51900392	2	1	351	1	0	0	0	0	0	0	0	1	11971	1335	47	2		2	PKHD1	6	51900392	Silent	SNP	G	TCGA-FE-A3PB-01A-11D-A21Z-08		51900392	119214675	2	5882											
PRDM13	59336	broad.mit.edu	37	chr6	100061166	100061166	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccctgggcccgccaccagttCaggcctgcggtgcgcgggag	16	16	1	0			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr6:100061166C>A	uc003pqg.1	+	3	916	c.655C>A	c.(655-657)Cag>Aag	p.Q219K		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCCACCAGTTCAGGCCTGCGG	0.711													2	2					0	0	1	0	0	A	100061166	C	A	100061166	3	1	351	1	0	0	0	0	1	0	0	0	12454	827	29	4	669	4	PRDM13	6	100061166	Missense_Mutation	SNP	C	TCGA-FE-A3PB-01A-11D-A21Z-08	48160774	100061166	71053901	3	5883											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	53					0	0	1	0	0	T	140453136	A	T	140453136	3	4	351	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A3PB-01A-11D-A21Z-08		140453136	18685527	4	5884											
LMX1B	4010	broad.mit.edu	37	chr9	129456049	129456051	+	In_Frame_Del	DEL	CAG	CAG	-													agaagctggcgcggcggcacCagcagcagcaggagcagcag							TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr9:129456049_129456051delCAG	uc011maa.2	+	5	851_853	c.844_846delCAG	c.(844-846)cagdel	p.Q285del	LMX1B_uc004bqi.3_In_Frame_Del_p.Q285del|LMX1B_uc004bqj.3_In_Frame_Del_p.Q285del	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	262					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGGCGGCACCAGCAGCAGCAGG	0.754									Nail-Patella Syndrome				2	4	---	---	---	---						-	129456051	CAG	-	129456049	7	5	351	1	0	1	0	1	0	0	0	0	8862	595	21	0	866	0	LMX1B	9	129456049	In_Frame_Del	DEL	CAG	TCGA-FE-A3PB-01A-11D-A21Z-08		129456049	11757382	5	5885											
TAS2R7	50837	broad.mit.edu	37	chr12	10954956	10954956	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggcatagacatctggatAtagcaccaatataaaacaat	7	7	1	1			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr12:10954956A>G	uc001qyv.3	-	0	271	c.214T>C	c.(214-216)Tat>Cat	p.Y72H		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	72					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						ACATCTGGATATAGCACCAAT	0.373													28	51					0	0	1	0	0	G	10954956	A	G	10954956	3	3	351	1	0	0	0	0	1	0	0	0	15583	449	16	3	746	3	TAS2R7	12	10954956	Missense_Mutation	SNP	A	TCGA-FE-A3PB-01A-11D-A21Z-08		10954956	122896939	6	5886											
PPP1R8	5511	broad.mit.edu	37	chr1	28176693	28176693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcagcggaggactctaCgggggcctgccccccacaca	12	17	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:28176693C>T	uc001bov.2	+	6	887	c.792C>T	c.(790-792)taC>taT	p.Y264Y	PPP1R8_uc009vtd.2_Silent_p.Y40Y|PPP1R8_uc001bow.2_Silent_p.Y122Y|PPP1R8_uc001box.2_Silent_p.Y40Y|PPP1R8_uc021ojy.1_Silent_p.Y122Y	NM_014110	NP_612568	Q12972	PP1R8_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 8 (PPP1R8), transcript variant 1, mRNA.	264					RNA catabolic process|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|RNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGACTCTACGGGGGCCTGC	0.617													19	180					0	0	1	0	0	T	28176693	C	T	28176693	2	4	352	1	0	0	0	0	0	0	0	1	12377	547	19	1		1	PPP1R8	1	28176693	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08		28176693	221073928	1	5887											
FNBP1L	54874	broad.mit.edu	37	chr1	93965084	93965084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgacttcttggaaagataTgccaaatttgttaaagagag	9	4	1	3			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:93965084T>C	uc010otk.2	+	1	235	c.84T>C	c.(82-84)taT>taC	p.Y28Y	FNBP1L_uc001dpv.3_Silent_p.Y28Y|FNBP1L_uc001dpw.3_Silent_p.Y28Y	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	28	FCH.|Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGGAAAGATATGCCAAATTTG	0.308													5	21					0	0	1	0	0	C	93965084	T	C	93965084	2	2	352	1	0	0	0	0	0	0	0	1	5966	1471	51	3		3	FNBP1L	1	93965084	Silent	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	65788391	93965084	155285537	2	5888											
NGF	4803	broad.mit.edu	37	chr1	115828959	115828959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccatcacctccttgcccTtgatgtctgtggcggtggtc	10	14	2	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:115828959T>C	uc001efu.1	-	2	627	c.458A>G	c.(457-459)aAg>aGg	p.K153R	NGF_uc021osd.1_Missense_Mutation_p.K153R	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	153					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CTCCTTGCCCTTGATGTCTGT	0.517													5	150					0	0	1	0	0	C	115828959	T	C	115828959	3	2	352	1	0	0	0	0	1	0	0	0	10395	1609	56	3	271	3	NGF	1	115828959	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	21863875	115828959	133421662	3	5889											
CGN	57530	broad.mit.edu	37	chr1	151501902	151501902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtggctgggcgacaccGggaccgggagttggagaagc	21	8	0	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:151501902G>A	uc009wmw.3	+	10	2117	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	652	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCGACACCGGGACCGGGAG	0.612													3	76					0	0	1	0	0	A	151501902	G	A	151501902	3	1	352	1	0	0	0	0	1	0	0	0	3303	1116	39	1	2011	1	CGN	1	151501902	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	35672943	151501902	97748719	4	5890											
DAP3	7818	broad.mit.edu	37	chr1	155701824	155701824	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggagttgctgggaaaGgtcaagtcaaaggaaaattt	12	7	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:155701824G>T	uc001fls.3	+	12	1177	c.993_splice	c.e12+1	p.K331_splice	GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Splice_Site_p.K290_splice|DAP3_uc010pgm.2_Splice_Site_p.K297_splice|DAP3_uc001flr.3_Splice_Site_p.K331_splice|DAP3_uc001flq.3_Splice_Site_p.K331_splice	NM_001199849	NP_001186778	P51398	RT29_HUMAN	Homo sapiens death associated protein 3 (DAP3), transcript variant 3, mRNA.	331					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCTGGGAAAGGTCAAGTCAA	0.388													3	29					0	0	1	0	0	T	155701824	G	T	155701824	5	4	352	1	0	0	0	0	0	0	1	0	4234	1014	35	4	1031	4	DAP3	1	155701824	Splice_Site	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	4199922	155701824	93548797	5	5891											
SLAMF8	56833	broad.mit.edu	37	chr1	159799959	159799959	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggggccagccctggacccAgaccctccagctcaaggtgt	12	15	1	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:159799959A>T	uc001fue.4	+	1	554	c.344A>T	c.(343-345)cAg>cTg	p.Q115L		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	115						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCCTGGACCCAGACCCTCCAG	0.617													19	26					0	0	1	0	0	T	159799959	A	T	159799959	3	4	352	1	0	0	0	0	1	0	0	0	14370	188	7	5	350	5	SLAMF8	1	159799959	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	4098135	159799959	89450662	6	5892											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179815856	179815856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctaaactgggccaaaaAggcctccaaagctggatttt	10	9	0	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:179815856A>G	uc001gnl.3	-	6	1577	c.763T>C	c.(763-765)Ttt>Ctt	p.F255L	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.F255L	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	255						endoplasmic reticulum membrane|integral to membrane	protein binding	p.A254V(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TGGGCCAAAAAGGCCTCCAAA	0.493													3	130					0	0	1	0	0	G	179815856	A	G	179815856	3	3	352	1	0	0	0	0	1	0	0	0	16370	72	3	3	653	3	TOR1AIP2	1	179815856	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	20015897	179815856	69434765	7	5893											
TROVE2	6738	broad.mit.edu	37	chr1	193038712	193038712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatataaacagagaaatggCtggtctcacaaagatctatt	7	6	2	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:193038712C>T	uc001gss.3	+	1	904	c.528C>T	c.(526-528)ggC>ggT	p.G176G	TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Silent_p.G176G|TROVE2_uc009wyp.3_Silent_p.G176G|TROVE2_uc001gsw.3_Silent_p.G176G|TROVE2_uc009wyq.3_Silent_p.G176G|TROVE2_uc001gsx.2_Silent_p.G176G	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	176	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AGAGAAATGGCTGGTCTCACA	0.453													3	100					0	0	1	0	0	T	193038712	C	T	193038712	2	4	352	1	0	0	0	0	0	0	0	1	16573	784	28	2		2	TROVE2	1	193038712	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	13222856	193038712	56211909	8	5894											
TNNT2	7139	broad.mit.edu	37	chr1	201333480	201333480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccggatgcgctgctgctcGgcccgctctgcccgacgtct	12	17	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:201333480G>A	uc001gwf.3	-	10	504	c.435C>T	c.(433-435)gcC>gcT	p.A145A	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_5'Flank|TNNT2_uc021phc.1_Silent_p.A135A|TNNT2_uc001gwg.3_Silent_p.A135A|TNNT2_uc001gwh.3_Silent_p.A126A|TNNT2_uc001gwi.3_Silent_p.A105A|TNNT2_uc009wzr.3_Silent_p.A76A|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.A110A|TNNT2_uc001gwk.1_Silent_p.A76A|TNNT2_uc009wzt.1_Silent_p.A135A	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	145					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTGCTGCTCGGCCCGCTCTG	0.642													3	54					0	0	1	0	0	A	201333480	G	A	201333480	2	1	352	1	0	0	0	0	0	0	0	1	16328	1103	39	1		1	TNNT2	1	201333480	Silent	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	8294768	201333480	47917141	9	5895											
NRXN1	9378	broad.mit.edu	37	chr2	50780088	50780088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaaatgccaccactccatGgatcttcatcttaggatctc	5	12	4	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr2:50780088G>T	uc021vhg.1	-	8	2437	c.1516C>A	c.(1516-1518)Cat>Aat	p.H506N	NRXN1_uc002rxb.4_Missense_Mutation_p.H138N|NRXN1_uc021vhh.1_Missense_Mutation_p.H466N|NRXN1_uc021vhi.1_Missense_Mutation_p.H502N|NRXN1_uc021vhj.1_Missense_Mutation_p.H462N|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.	466	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCACTCCATGGATCTTCATC	0.413													4	156					0	0	1	0	0	T	50780088	G	T	50780088	3	4	352	1	0	0	0	0	1	0	0	0	10665	1348	47	4	3450	4	NRXN1	2	50780088	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		50780088	192419285	10	5896											
AGPS	8540	broad.mit.edu	37	chr2	178378622	178378622	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggtgttcagtttgctccTttttctacatgcaggtaagt	10	7	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr2:178378622T>C	uc002ull.2	+	16	1730	c.1683T>C	c.(1681-1683)ccT>ccC	p.P561P	AGPS_uc010zfb.1_Silent_p.P471P	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	561					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGTTTGCTCCTTTTTCTACAT	0.303													3	93					0	0	1	0	0	C	178378622	T	C	178378622	2	2	352	1	0	0	0	0	0	0	0	1	394	1596	56	3		3	AGPS	2	178378622	Silent	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	127598534	178378622	64820751	11	5897											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	8	5	0	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr3:178917478G>A	uc003fjk.3	+	3	510	c.353_splice	c.e3-1	p.G118_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	118					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	79					0	0	1	0	0	A	178917478	G	A	178917478	5	1	352	1	0	0	0	0	0	0	1	0	11913	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		178917478	19104952	12	5898											
LPHN3	23284	broad.mit.edu	37	chr4	62598711	62598711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggatggcacaggatttGtagtgtatgatggagctttg	17	3	0	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr4:62598711G>T	uc010ihh.3	+	4	807	c.634G>T	c.(634-636)Gta>Tta	p.V212L	LPHN3_uc003hcq.4_Missense_Mutation_p.V212L|LPHN3_uc010ihg.1_Missense_Mutation_p.V280L|LPHN3_uc003hcs.1_Missense_Mutation_p.V41L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	212	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CACAGGATTTGTAGTGTATGA	0.448													4	47					0	0	1	0	0	T	62598711	G	T	62598711	3	4	352	1	0	0	0	0	1	0	0	0	8917	1377	48	4	652	4	LPHN3	4	62598711	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		62598711	128555565	13	5899											
TUBB2B	347733	broad.mit.edu	37	chr6	3226415	3226415	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacacgaaattgtctggtctGaagatctggccgaatggtcc	11	9	3	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr6:3226415G>C	uc003mvg.3	-	2	446	c.255C>G	c.(253-255)ttC>ttG	p.F85L	AK096219_uc003mvi.1_5'Flank	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	Homo sapiens tubulin, beta 2B class IIb (TUBB2B), mRNA.	85					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGTCTGGTCTGAAGATCTGGC	0.527													48	54					0	0	1	0	0	C	3226415	G	C	3226415	3	2	352	1	0	0	0	0	1	0	0	0	16752	1281	45	4	1090	4	TUBB2B	6	3226415	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		3226415	167888652	14	5900											
RMND1	55005	broad.mit.edu	37	chr6	151757610	151757610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttgttacttcaacatatCcgtgggaggccagatcttga	10	9	2	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr6:151757610C>T	uc003qoi.2	-	2	764	c.584G>A	c.(583-585)gGa>gAa	p.G195E	RMND1_uc011eeq.1_5'UTR|RMND1_uc003qoj.3_Missense_Mutation_p.G195E|RMND1_uc011eer.1_Missense_Mutation_p.G195E	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.	195										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTCAACATATCCGTGGGAGGC	0.423													17	110					0	0	1	0	0	T	151757610	C	T	151757610	3	4	352	1	0	0	0	0	1	0	0	0	13396	855	30	2	805	2	RMND1	6	151757610	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	148531195	151757610	19357457	15	5901											
AKAP9	10142	broad.mit.edu	37	chr7	91711855	91711855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaactactgagctatttcAtagcaatgaagaaagtggat	9	6	1	3			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:91711855A>G	uc003ulg.3	+	31	8264	c.8039A>G	c.(8038-8040)cAt>cGt	p.H2680R	AKAP9_uc003ulf.3_Missense_Mutation_p.H2672R|AKAP9_uc003uli.3_Missense_Mutation_p.H2303R|AKAP9_uc003ulj.3_Missense_Mutation_p.H450R|AKAP9_uc003ulk.3_5'Flank	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2692	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGCTATTTCATAGCAATGAA	0.338			T	BRAF	papillary thyroid								3	84					0	0	1	0	0	G	91711855	A	G	91711855	3	3	352	1	0	0	0	0	1	0	0	0	459	217	8	3	8165	3	AKAP9	7	91711855	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		91711855	67426808	16	5902											
CALD1	800	broad.mit.edu	37	chr7	134618477	134618477	+	Frame_Shift_Del	DEL	G	G	-													gagagggaaaggatgagggaGgaagagaaaagggcagcaga							TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:134618477delG	uc003vrz.3	+	4	1423	c.957delG	c.(955-957)gagfs	p.E319fs	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Frame_Shift_Del_p.E183fs	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	319	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ggatgagggaggaagagaaaa	0.488													2	4	---	---	---	---						-	134618477	G	-	134618477	7	5	352	1	0	1	0	1	0	0	0	0	2581	991	35	0	1024	0	CALD1	7	134618477	Frame_Shift_Del	DEL	G	TCGA-FE-A3PC-01A-11D-A21Z-08	42906622	134618477	24520186	17	5903											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				55	67					0	0	1	0	0	T	140453136	A	T	140453136	3	4	352	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	5834659	140453136	18685527	18	5904											
KDM4C	23081	broad.mit.edu	37	chr9	6893216	6893216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcagatggattgactatgGaaaagttgccaaattggtaa	11	4	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr9:6893216G>A	uc003zkh.3	+	7	1485	c.905G>A	c.(904-906)gGa>gAa	p.G302E	KDM4C_uc010mhu.2_Missense_Mutation_p.G324E|KDM4C_uc010mhw.3_Missense_Mutation_p.G302E|KDM4C_uc011lmi.1_Missense_Mutation_p.G302E|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Missense_Mutation_p.G302E|KDM4C_uc011lmk.2_Missense_Mutation_p.G121E	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	302	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATTGACTATGGAAAAGTTGCC	0.363													5	121					0	0	1	0	0	A	6893216	G	A	6893216	3	1	352	1	0	0	0	0	1	0	0	0	8130	1174	41	2	1001	2	KDM4C	9	6893216	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		6893216	134320215	19	5905											
CPEB3	22849	broad.mit.edu	37	chr10	94000047	94000049	+	In_Frame_Del	DEL	GCT	GCT	-													ttggggctgctgctgctgccGctgctgctgctggggctggg							TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr10:94000047_94000049delGCT	uc001khu.2	-	0	70_72	c.59_61delAGC	c.(58-63)cagcgg>cgg	p.Q20del	CPEB3_uc001khv.2_In_Frame_Del_p.Q20del|CPEB3_uc001khw.2_In_Frame_Del_p.Q20del|CPEB3_uc010qnn.2_In_Frame_Del_p.Q20del	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	20	Gln-rich.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				tgctgctgccgctgctgctgctg	0.591													2	4	---	---	---	---						-	94000049	GCT	-	94000047	7	5	352	1	0	1	0	1	0	0	0	0	3802	1086	38	0	2098	0	CPEB3	10	94000047	In_Frame_Del	DEL	GCT	TCGA-FE-A3PC-01A-11D-A21Z-08		94000047	41534700	20	5906											
ARL3	403	broad.mit.edu	37	chr10	104465155	104465155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaagctgcttcagaagaGtggtcttgccagcattatcc	10	10	2	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr10:104465155G>A	uc001kwa.3	-	1	253	c.95C>T	c.(94-96)aCt>aTt	p.T32I		NM_004311	NP_004302	P36405	ARL3_HUMAN	Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA.	32					cell cycle|cytokinesis|small GTPase mediated signal transduction	Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CTTCAGAAGAGTGGTCTTGCC	0.502													5	108					0	0	1	0	0	A	104465155	G	A	104465155	3	1	352	1	0	0	0	0	1	0	0	0	935	1029	36	2	473	2	ARL3	10	104465155	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	10465108	104465155	31069592	21	5907											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:281566A>G	uc010qvs.2	+	3	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_uc010qvt.2_Missense_Mutation_p.E611G	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662													4	182					0	0	1	0	0	G	281566	A	G	281566	3	3	352	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		281566	134724950	22	5908											
OR5AS1	219447	broad.mit.edu	37	chr11	55798723	55798723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgataaggtggtggcagtgTtttatactgttgtatttccc	11	6	0	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:55798723T>C	uc010riw.2	+	0	829	c.829T>C	c.(829-831)Ttt>Ctt	p.F277L		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F277Y(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGTGGCAGTGTTTTATACTGT	0.378													36	43					0	0	1	0	0	C	55798723	T	C	55798723	3	2	352	1	0	0	0	0	1	0	0	0	11146	1725	60	3	831	3	OR5AS1	11	55798723	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	55517157	55798723	79207793	23	5909											
ETS1	2113	broad.mit.edu	37	chr11	128360384	128360384	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcgttgctgttctttaGtgaaaccactgaaagtagct	9	9	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:128360384G>C	uc001qej.2	-	3	387	c.302C>G	c.(301-303)aCt>aGt	p.T101S	ETS1_uc010sbs.1_Missense_Mutation_p.T57S|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.T57S	NM_001143820	NP_001137292	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.	57	PNT.				PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.N101N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CTGTTCTTTAGTGAAACCACT	0.413													8	110					0	0	1	0	0	C	128360384	G	C	128360384	3	2	352	1	0	0	0	0	1	0	0	0	5275	1029	36	4	1183	4	ETS1	11	128360384	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	72561661	128360384	6646132	24	5910											
COL2A1	1280	broad.mit.edu	37	chr12	48391978	48391978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctccaggttctccttTctgtccctgaaacatgaaac	7	12	3	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr12:48391978T>C	uc001rqu.3	-	3	497	c.316A>G	c.(316-318)Aaa>Gaa	p.K106E	COL2A1_uc001rqv.3_Missense_Mutation_p.K37E	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	106					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGTTCTCCTTTCTGTCCCTGA	0.483													6	105					0	0	1	0	0	C	48391978	T	C	48391978	3	2	352	1	0	0	0	0	1	0	0	0	3687	1792	62	3	4351	3	COL2A1	12	48391978	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08		48391978	85459917	25	5911											
FNDC3A	22862	broad.mit.edu	37	chr13	49765500	49765500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacatacagcttcagactaCgtgcagctaacaaaatgggg	10	9	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr13:49765500C>A	uc001vcm.3	+	18	2511	c.2206C>A	c.(2206-2208)Cgt>Agt	p.R736S	FNDC3A_uc001vcn.3_Missense_Mutation_p.R736S|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.R680S	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	736	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTCAGACTACGTGCAGCTAA	0.363													3	100					0	0	1	0	0	A	49765500	C	A	49765500	3	1	352	1	0	0	0	0	1	0	0	0	5969	536	19	4	2287	4	FNDC3A	13	49765500	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08		49765500	65404378	26	5912											
TPPP2	122664	broad.mit.edu	37	chr14	21500190	21500190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgacaacacaggctatgTgagtggttacaagggttctg	13	7	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:21500190T>C	uc001vzh.3	+	3	655	c.467T>C	c.(466-468)gTg>gCg	p.V156A	NDRG2_uc010tll.2_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA.	156						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACAGGCTATGTGAGTGGTTAC	0.542													4	112					0	0	1	0	0	C	21500190	T	C	21500190	3	2	352	1	0	0	0	0	1	0	0	0	16411	1696	59	3	477	3	TPPP2	14	21500190	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08		21500190	85849350	27	5913											
SYNE2	23224	broad.mit.edu	37	chr14	64457230	64457230	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagccaggagtcctttcaAcatgttctcacaactgggct	8	12	3	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:64457230A>G	uc001xgl.3	+	19	2645	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	SYNE2_uc001xgm.3_Silent_p.Q805Q|SYNE2_uc021ruh.1_Silent_p.Q805Q	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	805					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTCCTTTCAACATGTTCTCA	0.358													7	169					0	0	1	0	0	G	64457230	A	G	64457230	2	3	352	1	0	0	0	0	0	0	0	1	15443	40	2	3		3	SYNE2	14	64457230	Silent	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	42957040	64457230	42892310	28	5914											
ZNF500	26048	broad.mit.edu	37	chr16	4810510	4810510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttcattctccagcggcGcgtcccgctgagctgggtcc	11	16	2	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr16:4810510G>A	uc002cxp.1	-	4	990	c.743C>T	c.(742-744)gCg>gTg	p.A248V	ZNF500_uc002cxo.1_Missense_Mutation_p.A40V|ZNF500_uc010uxt.1_Missense_Mutation_p.A248V	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	248	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTCCAGCGGCGCGTCCCGCTG	0.577													26	106					0	0	1	0	0	A	4810510	G	A	4810510	3	1	352	1	0	0	0	0	1	0	0	0	17945	1087	38	1	707	1	ZNF500	16	4810510	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		4810510	85544243	29	5915											
ANKS4B	257629	broad.mit.edu	37	chr16	21261647	21261647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaagctccagttgtcaGcagaggaggacggcagtgtg	16	7	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr16:21261647G>A	uc010bwp.1	+	1	803	c.760G>A	c.(760-762)Gca>Aca	p.A254T	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	254										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCAGTTGTCAGCAGAGGAGGA	0.488													3	102					0	0	1	0	0	A	21261647	G	A	21261647	3	1	352	1	0	0	0	0	1	0	0	0	691	971	34	2	766	2	ANKS4B	16	21261647	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	16451137	21261647	69093106	30	5916											
MYO1D	4642	broad.mit.edu	37	chr17	31082524	31082524	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattacctttcggctggaaaAatgggcgtgtttgcccaatt	10	9	0	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr17:31082524A>T	uc002hho.1	-	10	1465	c.1453T>A	c.(1453-1455)Ttt>Att	p.F485I	MYO1D_uc002hhp.1_Missense_Mutation_p.F485I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	485	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGGCTGGAAAAATGGGCGTGT	0.398													11	105					0	0	1	0	0	T	31082524	A	T	31082524	3	4	352	1	0	0	0	0	1	0	0	0	10071	14	1	5	1615	5	MYO1D	17	31082524	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		31082524	50112686	31	5917											
CDC42EP4	23580	broad.mit.edu	37	chr17	71281678	71281678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccggaaggcagggctgCgctcctccaggatgcctgag	15	15	0	1			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr17:71281678C>T	uc002jjn.3	-	1	1109	c.962G>A	c.(961-963)cGc>cAc	p.R321H	CDC42EP4_uc002jjo.3_Missense_Mutation_p.R321H|CDC42EP4_uc002jjp.1_Missense_Mutation_p.R251H|CDC42EP4_uc021ucn.1_Missense_Mutation_p.R321H	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	321					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GGCAGGGCTGCGCTCCTCCAG	0.672													3	83					0	0	1	0	0	T	71281678	C	T	71281678	3	4	352	1	0	0	0	0	1	0	0	0	3078	768	27	1	112	1	CDC42EP4	17	71281678	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	40199154	71281678	9913532	32	5918											
DNM2	1785	broad.mit.edu	37	chr19	10930718	10930718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgtgatgtggagaagggCttcatgtccaacaagcacgt	12	9	1	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:10930718C>T	uc002mpt.2	+	15	1924	c.1734C>T	c.(1732-1734)ggC>ggT	p.G578G	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.G578G|DNM2_uc010dxl.2_Silent_p.G578G|DNM2_uc002mpu.2_Silent_p.G574G|DNM2_uc002mpv.2_Silent_p.G574G|DNM2_uc002mpw.3_Silent_p.G307G|MIR199A1_uc010xlj.1_5'Flank	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	578	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGGAGAAGGGCTTCATGTCCA	0.572			"F, N, Splice, Mis, O"		ETP ALL								20	161					0	0	1	0	0	T	10930718	C	T	10930718	2	4	352	1	0	0	0	0	0	0	0	1	4672	784	28	2		2	DNM2	19	10930718	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08		10930718	48198265	33	5919											
SYDE1	85360	broad.mit.edu	37	chr19	15224522	15224522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgagcaaccgctacgcCggcgactggagcgtttgcgg	14	16	0	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:15224522C>T	uc002nah.1	+	7	1987	c.1956C>T	c.(1954-1956)gcC>gcT	p.A652A	SYDE1_uc002nai.1_Silent_p.A585A|SYDE1_uc002naj.1_Silent_p.A309A	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.	652					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						ACCGCTACGCCGGCGACTGGA	0.697													5	108					0	0	1	0	0	T	15224522	C	T	15224522	2	4	352	1	0	0	0	0	0	0	0	1	15432	639	23	1		1	SYDE1	19	15224522	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	4293804	15224522	43904461	34	5920											
TEX101	83639	broad.mit.edu	37	chr19	43922526	43922526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgctgccattgctgctgCcatcatttattcacttttcc	5	13	2	0			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:43922526C>A	uc002owk.3	+	8	1342	c.781C>A	c.(781-783)Cca>Aca	p.P261T	TEX101_uc010xwo.2_Missense_Mutation_p.P243T	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	243						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ATTGCTGCTGCCATCATTTAT	0.498													19	103					0	0	1	0	0	A	43922526	C	A	43922526	3	1	352	1	0	0	0	0	1	0	0	0	15770	739	26	4	803	4	TEX101	19	43922526	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	28698004	43922526	15206457	35	5921											
MYBPC2	4606	broad.mit.edu	37	chr19	50944246	50944246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagagcgagtacgagAaaatcgccttccagtatggc	11	9	0	3			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:50944246A>G	uc002psf.2	+	7	733	c.682A>G	c.(682-684)Aaa>Gaa	p.K228E		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	228					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGAGTACGAGAAAATCGCCTT	0.542													5	27					0	0	1	0	0	G	50944246	A	G	50944246	3	3	352	1	0	0	0	0	1	0	0	0	10012	247	9	3	712	3	MYBPC2	19	50944246	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	7021720	50944246	8184737	36	5922											
PIM2	11040	broad.mit.edu	37	chrX	48772508	48772508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcccttctctgtgatAtagtcaaagagatcctgggc	12	9	2	2			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chrX:48772508A>G	uc004dls.3	-	3	686	c.384T>C	c.(382-384)taT>taC	p.Y128Y		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	128	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TCTCTGTGATATAGTCAAAGA	0.597													3	64					0	0	1	0	0	G	48772508	A	G	48772508	2	3	352	1	0	0	0	0	0	0	0	1	11928	456	16	3		3	PIM2	23	48772508	Silent	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		48772508	106498052	37	5923											
IFI44L	10964	broad.mit.edu	37	chr1	79095498	79095498	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttggtgggtccagttggGtctggaaagtccagtttttt	13	6	1	0			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:79095498G>T	uc010oro.2	+	3	800	c.621G>T	c.(619-621)ggG>ggT	p.G207G	IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	207						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTCCAGTTGGGTCTGGAAAGT	0.453													3	38					0	0	1	0	0	T	79095498	G	T	79095498	2	4	353	1	0	0	0	0	0	0	0	1	7518	1248	44	4		4	IFI44L	1	79095498	Silent	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		79095498	170155123	1	5924											
OR6K2	81448	broad.mit.edu	37	chr1	158669597	158669597	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggggttgaagaagggagaCaaaactgcaaaggccagagc	15	6	0	4	rs141159720	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:158669597C>G	uc001fsu.1	-	0	846	c.846G>C	c.(844-846)ttG>ttC	p.L282F		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGGGAGACAAAACTGCAA	0.403													24	28					0	0	1	0	0	G	158669597	C	G	158669597	3	3	353	1	0	0	0	0	1	0	0	0	11202	477	17	4	132	4	OR6K2	1	158669597	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08	79574099	158669597	90581024	2	5925											
CACNA1E	777	broad.mit.edu	37	chr1	181452990	181452990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcctcggggcaggcggCcgcctacaagcagacgaaag	16	14	0	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:181452990C>T	uc009wxt.3	+	0	305	c.110C>T	c.(109-111)gCc>gTc	p.A37V	CACNA1E_uc001gow.3_Missense_Mutation_p.A37V|CACNA1E_uc009wxs.3_Missense_Mutation_p.A37V	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	37					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGCAGGCGGCCGCCTACAAG	0.652													4	145					0	0	1	0	0	T	181452990	C	T	181452990	3	4	353	1	0	0	0	0	1	0	0	0	2542	739	26	2	112	2	CACNA1E	1	181452990	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08	22783393	181452990	67797631	3	5926											
TMEM178	130733	broad.mit.edu	37	chr2	39934227	39934227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcttcctcggcatggccGtagccgtccttctctgcggc	12	16	1	0			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr2:39934227G>A	uc002rrt.3	+	2	633	c.553G>A	c.(553-555)Gta>Ata	p.V185I	TMEM178_uc021vgg.1_Missense_Mutation_p.V3I|TMEM178_uc010fam.2_Intron	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	185						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				CGGCATGGCCGTAGCCGTCCT	0.488													3	75					0	0	1	0	0	A	39934227	G	A	39934227	3	1	353	1	0	0	0	0	1	0	0	0	16092	1145	40	1	563	1	TMEM178	2	39934227	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		39934227	203265146	4	5927											
ROPN1B	152015	broad.mit.edu	37	chr3	125701153	125701153	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatagtgtgtgaggtcttatCatgtgaccacaatggtgggt	14	5	2	2			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr3:125701153C>T	uc003eih.3	+	4	665	c.437C>T	c.(436-438)tCa>tTa	p.S146L	ROPN1B_uc010hsb.3_Missense_Mutation_p.S146L|ROPN1B_uc010hsc.3_Missense_Mutation_p.S54L	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	Homo sapiens rhophilin associated tail protein 1B (ROPN1B), mRNA.	146					Rho protein signal transduction|acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GAGGTCTTATCATGTGACCAC	0.428													48	96					0	0	1	0	0	T	125701153	C	T	125701153	3	4	353	1	0	0	0	0	1	0	0	0	13524	838	29	2	451	2	ROPN1B	3	125701153	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		125701153	72321277	5	5928											
C7	730	broad.mit.edu	37	chr5	40979879	40979879	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagcaaaaggatactgcctCtgacagtttgcaagatgcat	10	8	1	2			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr5:40979879C>G	uc003jmh.3	+	16	2332	c.2218C>G	c.(2218-2220)Ctg>Gtg	p.L740V	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	740	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GATACTGCCTCTGACAGTTTG	0.413													28	35					0	0	1	0	0	G	40979879	C	G	40979879	3	3	353	1	0	0	0	0	1	0	0	0	2375	912	32	4	2284	4	C7	5	40979879	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		40979879	139935381	6	5929											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153024	151153024	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agacctgatttctaaagaagGctcctttatgagccttaacc	7	10	1	4			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr6:151153024G>C	uc011eem.1	+	14	3042	c.2954G>C	c.(2953-2955)gGc>gCc	p.G985A	PLEKHG1_uc011eel.1_Missense_Mutation_p.G966A|PLEKHG1_uc003qny.1_Missense_Mutation_p.G926A|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G926A	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	926					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCTAAAGAAGGCTCCTTTATG	0.572													129	213					0	0	1	0	0	C	151153024	G	C	151153024	3	2	353	1	0	0	0	0	1	0	0	0	12068	1203	42	4	2831	4	PLEKHG1	6	151153024	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		151153024	19962043	7	5930											
PKD1L1	168507	broad.mit.edu	37	chr7	47921639	47921639	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccatctccagggctctcctCggcactcaagctaggtcctg	9	17	3	0			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:47921639C>A	uc003tny.2	-	19	3344	c.3310G>T	c.(3310-3312)Gag>Tag	p.E1104*		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1104	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGCTCTCCTCGGCACTCAAG	0.527													3	110					0	0	1	0	0	A	47921639	C	A	47921639	4	1	353	1	0	0	0	0	0	1	0	0	11964	893	31	4	5391	4	PKD1L1	7	47921639	Nonsense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		47921639	111217024	8	5931											
AKAP9	10142	broad.mit.edu	37	chr7	91730275	91730275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagaaatctttgaaaAgggcagaggctgaagtatac	10	8	2	4			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:91730275A>G	uc003ulg.3	+	44	11227	c.11002A>G	c.(11002-11004)Agg>Ggg	p.R3668G	AKAP9_uc003ulf.3_Missense_Mutation_p.R3660G|AKAP9_uc003uli.3_Missense_Mutation_p.R3291G|AKAP9_uc003ulj.3_Missense_Mutation_p.R1438G|AKAP9_uc003ull.3_Missense_Mutation_p.R564G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3672					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATCTTTGAAAAGGGCAGAGGC	0.393			T	BRAF	papillary thyroid								3	121					0	0	1	0	0	G	91730275	A	G	91730275	3	3	353	1	0	0	0	0	1	0	0	0	459	63	3	3	11180	3	AKAP9	7	91730275	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08	43808636	91730275	67408388	9	5932											
ATG9B	285973	broad.mit.edu	37	chr7	150714349	150714349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggcctcagtctgtcccGccgagagccactgtgagcaa	13	14	2	2			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:150714349G>A	uc011kvc.2	-	8	2139	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	688					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCTGTCCCGCCGAGAGCCA	0.592													3	50					0	0	1	0	0	A	150714349	G	A	150714349	3	1	353	1	0	0	0	0	1	0	0	0	1103	1087	38	1	730	1	ATG9B	7	150714349	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08	58984074	150714349	8424314	10	5933											
KIAA1217	56243	broad.mit.edu	37	chr10	24669920	24669920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggggatgctccaaccccTttttccagaggcagccggac	13	13	0	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr10:24669920T>C	uc001iru.4	+	2	880	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_uc001irs.3_Silent_p.P79P|KIAA1217_uc001irt.4_Silent_p.P159P|KIAA1217_uc010qcy.2_Silent_p.P159P|KIAA1217_uc010qcz.2_Silent_p.P159P|KIAA1217_uc001irv.1_Silent_p.P9P|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	159					embryonic skeletal system development	cytoplasm		p.P159L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542													3	113					0	0	1	0	0	C	24669920	T	C	24669920	2	2	353	1	0	0	0	0	0	0	0	1	8216	1596	56	3		3	KIAA1217	10	24669920	Silent	SNP	T	TCGA-FE-A3PD-01A-11D-A21Z-08		24669920	110864827	11	5934											
ARID5B	84159	broad.mit.edu	37	chr10	63852302	63852302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtgattgcagggaaaaAggcccgggcagtgtctccct	13	11	1	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr10:63852302A>G	uc001jlt.2	+	9	3536	c.3080A>G	c.(3079-3081)aAg>aGg	p.K1027R	ARID5B_uc001jlu.2_Missense_Mutation_p.K784R	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1027					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCAGGGAAAAAGGCCCGGGCA	0.607													4	171					0	0	1	0	0	G	63852302	A	G	63852302	3	3	353	1	0	0	0	0	1	0	0	0	922	72	3	3	3118	3	ARID5B	10	63852302	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08	39182382	63852302	71682445	12	5935											
PIWIL4	143689	broad.mit.edu	37	chr11	94318686	94318686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccaatggaaattccccaGcacaagtaggtttatttata	8	8	0	0			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr11:94318686G>A	uc001pfa.3	+	5	922	c.711G>A	c.(709-711)caG>caA	p.Q237Q	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	237					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAATTCCCCAGCACAAGTAGG	0.328													4	191					0	0	1	0	0	A	94318686	G	A	94318686	2	1	353	1	0	0	0	0	0	0	0	1	11960	962	34	2		2	PIWIL4	11	94318686	Silent	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		94318686	40687830	13	5936											
TMEM132B	114795	broad.mit.edu	37	chr12	126137125	126137125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccacaccgagcagacaaaAgggccatcgtctccacagct	9	15	1	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr12:126137125A>G	uc001uhe.1	+	7	2046	c.2038A>G	c.(2038-2040)Agg>Ggg	p.R680G	TMEM132B_uc001uhf.1_Missense_Mutation_p.R192G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	680						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGACAAAAGGGCCATCGT	0.612													3	172					0	0	1	0	0	G	126137125	A	G	126137125	3	3	353	1	0	0	0	0	1	0	0	0	16043	63	3	3	2068	3	TMEM132B	12	126137125	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		126137125	7714770	14	5937											
N6AMT2	221143	broad.mit.edu	37	chr13	21306248	21306248	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggtaaacactaggggcactCacacatgcgattctaggaga	11	9	2	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr13:21306248C>G	uc001uno.1	-	3	321	c.240G>C	c.(238-240)gtG>gtC	p.V80V	N6AMT2_uc009zzr.1_Silent_p.V80V|N6AMT2_uc001unp.2_Non-coding_Transcript	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.	80							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TAGGGGCACTCACACATGCGA	0.398													64	119					0	0	1	0	0	G	21306248	C	G	21306248	2	3	353	1	0	0	0	0	0	0	0	1	10115	813	29	4		4	N6AMT2	13	21306248	Silent	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		21306248	93863630	15	5938											
GPX2	2877	broad.mit.edu	37	chr14	65406325	65406325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacttctcaaagttccAggccacatctgagcggcgca	11	12	2	1			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr14:65406325A>G	uc021ruq.1	-	1	541	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	CHURC1-FNTB_uc010tsk.2_Intron|CHURC1-FNTB_uc010tsj.2_Intron|CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|GPX2_uc001xhy.1_Non-coding_Transcript	NM_002083	NP_002074	P18283	GPX2_HUMAN	Homo sapiens glutathione peroxidase 2 (gastrointestinal) (GPX2), mRNA.	152					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	p.W152fs*1(1)		large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TCAAAGTTCCAGGCCACATCT	0.562													3	127					0	0	1	0	0	G	65406325	A	G	65406325	3	3	353	1	0	0	0	0	1	0	0	0	6740	188	7	3	122	3	GPX2	14	65406325	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		65406325	41943215	16	5939											
UBN1	29855	broad.mit.edu	37	chr16	4920917	4920917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaagatgaagaaaaAgggggcaggaggataatggg	19	1	0	4			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr16:4920917A>G	uc002cyb.3	+	10	1842	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_uc010uxw.2_Silent_p.K501K|UBN1_uc002cyc.3_Silent_p.K501K	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	501					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K501K(2)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGAAGAAAAAGGGGGCAGGA	0.522													3	99					0	0	1	0	0	G	4920917	A	G	4920917	2	3	353	1	0	0	0	0	0	0	0	1	16889	69	3	3		3	UBN1	16	4920917	Silent	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		4920917	85433836	17	5940											
MSI2	124540	broad.mit.edu	37	chr17	55752345	55752345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcaggctccaacccggCgcggcccggaggcttcccgg	15	19	0	0			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr17:55752345C>T	uc002iuz.1	+	11	976	c.803C>T	c.(802-804)gCg>gTg	p.A268V	MSI2_uc010wnm.1_Missense_Mutation_p.A264V	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	268						cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCCAACCCGGCGCGGCCCGGA	0.642			T	HOXA9	CML								5	253					0	0	1	0	0	T	55752345	C	T	55752345	3	4	353	1	0	0	0	0	1	0	0	0	9876	768	27	1	944	1	MSI2	17	55752345	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		55752345	25442865	18	5941											
LAMA3	3909	broad.mit.edu	37	chr18	21484047	21484047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagctggcaaagcagctgGaagagtgagtgcatggccca	15	8	0	3			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr18:21484047G>A	uc002kuq.3	+	49	6555	c.6469G>A	c.(6469-6471)Gaa>Aaa	p.E2157K	LAMA3_uc002kur.3_Missense_Mutation_p.E2101K|LAMA3_uc002kus.4_Missense_Mutation_p.E548K|LAMA3_uc002kut.4_Missense_Mutation_p.E492K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2157	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGCAGCTGGAAGAGTGAGT	0.567													52	76					0	0	1	0	0	A	21484047	G	A	21484047	3	1	353	1	0	0	0	0	1	0	0	0	8607	1175	41	2	6842	2	LAMA3	18	21484047	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		21484047	56593201	19	5942											
ZNF223	7766	broad.mit.edu	37	chr19	44570331	44570331	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttaaccaggcctcaagactCtaccataaagagctctcagt	6	12	3	2			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr19:44570331C>G	uc002oyf.1	+	4	603	c.350C>G	c.(349-351)tCt>tGt	p.S117C	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CCTCAAGACTCTACCATAAAG	0.473													41	50					0	0	1	0	0	G	44570331	C	G	44570331	3	3	353	1	0	0	0	0	1	0	0	0	17774	913	32	4	364	4	ZNF223	19	44570331	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		44570331	14558652	20	5943											
CSMD2	114784	broad.mit.edu	37	chr1	34164511	34164511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtagccaaacttggggGttcctgggtcctcacatttg	11	11	1	0			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:34164511G>A	uc001bxm.1	-	23	3944	c.3767C>T	c.(3766-3768)aCc>aTc	p.T1256I	CSMD2_uc001bxn.1_Missense_Mutation_p.T1216I|CSMD2_uc001bxo.1_Missense_Mutation_p.T129I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1216	Sushi 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAACTTGGGGGTTCCTGGGTC	0.517													3	74					0	0	1	0	0	A	34164511	G	A	34164511	3	1	354	1	0	0	0	0	1	0	0	0	3945	1261	44	2	7000	2	CSMD2	1	34164511	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		34164511	215086110	1	5944											
ALK	238	broad.mit.edu	37	chr2	29474098	29474098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgggtggggccatgggGcccgctggccccacatgtgg	18	13	0	0			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr2:29474098G>A	uc002rmy.3	-	11	3029	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	693					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGGCCATGGGGCCCGCTGGCC	0.642			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	28					0	0	1	0	0	A	29474098	G	A	29474098	3	1	354	1	0	0	0	0	1	0	0	0	525	1203	42	2	2857	2	ALK	2	29474098	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		29474098	213725275	2	5945											
SCN5A	6331	broad.mit.edu	37	chr3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtggctctagtgacactgtCataggagggtgggaaggaag	18	5	2	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:38591931C>G	uc021wvo.1	-	26	5984	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602													3	68					0	0	1	0	0	G	38591931	C	G	38591931	3	3	354	1	0	0	0	0	1	0	0	0	13922	826	29	4	122	4	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		38591931	159430499	3	5946											
NCK1	4690	broad.mit.edu	37	chr3	136646925	136646925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacatcaagaagaatgagAgattatggcttctggatgat	12	4	2	5			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:136646925A>G	uc003erh.3	+	1	212	c.82A>G	c.(82-84)Aga>Gga	p.R28G	NCK1_uc011bme.2_5'Flank	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	28	SH3 1.				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAAGAATGAGAGATTATGGCT	0.418													36	52					0	0	1	0	0	G	136646925	A	G	136646925	3	3	354	1	0	0	0	0	1	0	0	0	10219	296	11	3	84	3	NCK1	3	136646925	Missense_Mutation	SNP	A	TCGA-FK-A3S3-01A-11D-A22D-08	98054994	136646925	61375505	4	5947											
CCDC96	257236	broad.mit.edu	37	chr4	7043726	7043726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttctcctggcactgccGcttcaactggcccagctcct	9	17	2	0			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr4:7043726G>A	uc003gjv.2	-	0	1003	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	314										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TGGCACTGCCGCTTCAACTGG	0.617													4	229					0	0	1	0	0	A	7043726	G	A	7043726	3	1	354	1	0	0	0	0	1	0	0	0	2874	1086	38	1	731	1	CCDC96	4	7043726	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		7043726	184110550	5	5948											
SPEF2	79925	broad.mit.edu	37	chr5	35700753	35700753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattggctattgatcctgCgacttccaaagaaatacctc	6	12	0	2			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:35700753C>T	uc003jjo.3	+	15	2408	c.2297C>T	c.(2296-2298)gCg>gTg	p.A766V	SPEF2_uc003jjq.4_Missense_Mutation_p.A761V|SPEF2_uc003jjp.1_Missense_Mutation_p.A252V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	766					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGATCCTGCGACTTCCAAA	0.383													3	68					0	0	1	0	0	T	35700753	C	T	35700753	3	4	354	1	0	0	0	0	1	0	0	0	15034	768	27	1	2380	1	SPEF2	5	35700753	Missense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		35700753	145214507	6	5949											
IL13	3596	broad.mit.edu	37	chr5	131995905	131995905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagacaccaaaatcgaGgtggcccagtttgtaaagga	12	9	0	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:131995905G>A	uc003kxj.1	+	3	386	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_002188	NP_002179	P35225	IL13_HUMAN	Homo sapiens interleukin 13 (IL13), mRNA.	124					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAAAATCGAGGTGGCCCAGT	0.478													3	56					0	0	1	0	0	A	131995905	G	A	131995905	2	1	354	1	0	0	0	0	0	0	0	1	7628	991	35	2		2	IL13	5	131995905	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	96295152	131995905	48919355	7	5950											
TMC1	117531	broad.mit.edu	37	chr9	75445596	75445596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatggcagctgcacgagCaggttggagatacgtttatg	14	6	0	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr9:75445596C>T	uc004aiz.1	+	22	2798	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.A607V|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	753	Poly-Ala.				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTGCACGAGCAGGTTGGAGA	0.323													8	20					0	0	1	0	0	T	75445596	C	T	75445596	3	4	354	1	0	0	0	0	1	0	0	0	15981	710	25	2	2332	2	TMC1	9	75445596	Missense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		75445596	65767835	8	5951											
ANKRD26	22852	broad.mit.edu	37	chr10	27332479	27332479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaacatcatccatagaCtgtatttggtttttgaccta	5	9	3	2			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr10:27332479C>T	uc009xku.1	-	19	2209	c.2037G>A	c.(2035-2037)caG>caA	p.Q679Q	ANKRD26_uc001itg.2_Silent_p.Q365Q|ANKRD26_uc001ith.2_Silent_p.Q678Q	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	678						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATCCATAGACTGTATTTGGT	0.348													13	22					0	0	1	0	0	T	27332479	C	T	27332479	2	4	354	1	0	0	0	0	0	0	0	1	654	564	20	2		2	ANKRD26	10	27332479	Silent	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		27332479	108202268	9	5952											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:281566A>G	uc010qvs.2	+	3	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_uc010qvt.2_Missense_Mutation_p.E611G	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662													5	198					0	0	1	0	0	G	281566	A	G	281566	3	3	354	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-FK-A3S3-01A-11D-A22D-08		281566	134724950	10	5953											
SSH3	54961	broad.mit.edu	37	chr11	67076991	67076991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgcactggaaggagacGcaccgcttcattgaggctgc	13	13	1	2	rs149398055	by1000genomes	TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:67076991G>A	uc001okj.3	+	10	1363	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.T249T	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	395	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGAAGGAGACGCACCGCTTCA	0.637													3	55					0	0	1	0	0	A	67076991	G	A	67076991	2	1	354	1	0	0	0	0	0	0	0	1	15185	1074	38	1		1	SSH3	11	67076991	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	66795425	67076991	67929525	11	5954											
TRPM1	4308	broad.mit.edu	37	chr15	31327829	31327829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggccagccatccatccGcaccaggatgacgtagttaa	11	13	0	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:31327829G>A	uc021sia.1	-	19	2985	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	TRPM1_uc010azy.3_Missense_Mutation_p.R759W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R874W|TRPM1_uc001zfm.3_Missense_Mutation_p.R852W	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	852					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATCCATCCGCACCAGGATG	0.517													4	116					0	0	1	0	0	A	31327829	G	A	31327829	3	1	354	1	0	0	0	0	1	0	0	0	16582	1086	38	1	2289	1	TRPM1	15	31327829	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		31327829	71203563	12	5955											
MYO5C	55930	broad.mit.edu	37	chr15	52521333	52521333	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgtgagagccgctctaccttGacctgcttgctcaggcgggc	13	14	2	2			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:52521333G>C	uc010bff.3	-	24	3366	c.3204C>G	c.(3202-3204)gtC>gtG	p.V1068V	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1068						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTCTACCTTGACCTGCTTGC	0.532													80	162					0	0	1	0	0	C	52521333	G	C	52521333	2	2	354	1	0	0	0	0	0	0	0	1	10080	1277	45	4		4	MYO5C	15	52521333	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	21193504	52521333	50010059	13	5956											
NOX5	79400	broad.mit.edu	37	chr15	69327795	69327795	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccagcttatgggctaCgtggtagtggggctgtccct	13	11	0	0			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:69327795C>G	uc002ars.2	+	5	998	c.957C>G	c.(955-957)taC>taG	p.Y319*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.Y273*|NOX5_uc002arp.2_Nonsense_Mutation_p.Y301*|NOX5_uc010bid.2_Nonsense_Mutation_p.Y284*|NOX5_uc010bie.2_Nonsense_Mutation_p.Y119*|NOX5_uc002arr.2_Nonsense_Mutation_p.Y291*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	319	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTATGGGCTACGTGGTAGTGG	0.607													3	90					0	0	1	0	0	G	69327795	C	G	69327795	4	3	354	1	0	0	0	0	0	1	0	0	10559	547	19	4	1012	4	NOX5	15	69327795	Nonsense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08	16806462	69327795	33203597	14	5957											
DPH1	1801	broad.mit.edu	37	chr17	1944859	1944859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccttggggccctggacgGtgaaccacggccaggaccgc	15	15	0	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:1944859G>A	uc010vqs.2	+	9	1222	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	DPH1_uc002fts.3_Missense_Mutation_p.V396M|DPH1_uc002ftt.3_Missense_Mutation_p.V380M|DPH1_uc010cjx.3_Missense_Mutation_p.V256M|DPH1_uc002ftv.3_Missense_Mutation_p.V152M|DPH1_uc002ftw.3_Missense_Mutation_p.V124M|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	396					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCCCTGGACGGTGAACCACGG	0.731													3	57					0	0	1	0	0	A	1944859	G	A	1944859	3	1	354	1	0	0	0	0	1	0	0	0	4719	1261	44	2	1228	2	DPH1	17	1944859	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		1944859	79250351	15	5958											
SUPT6H	6830	broad.mit.edu	37	chr17	27024043	27024043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagcatgtggatgtgcgGgaggagggcaaggaaaatgc	17	6	0	0			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:27024043G>A	uc010crt.3	+	30	4344	c.4152G>A	c.(4150-4152)cgG>cgA	p.R1384R	SUPT6H_uc002hby.3_Silent_p.R1384R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1384	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGGATGTGCGGGAGGAGGGCA	0.572													3	118					0	0	1	0	0	A	27024043	G	A	27024043	2	1	354	1	0	0	0	0	0	0	0	1	15397	1219	43	2		2	SUPT6H	17	27024043	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	25079184	27024043	54171167	16	5959											
LONP1	9361	broad.mit.edu	37	chr19	5699184	5699184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggatcttgccctgggtGgagccgcggagctggctaac	16	11	1	1			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr19:5699184G>A	uc002mcx.3	-	9	1572	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	LONP1_uc002mcy.3_Silent_p.S449S|LONP1_uc010duh.3_Silent_p.S254S|LONP1_uc010dui.3_Silent_p.S497S|LONP1_uc002mcz.3_Silent_p.S317S	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	513					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCTGGGTGGAGCCGCGGA	0.647													3	115					0	0	1	0	0	A	5699184	G	A	5699184	2	1	354	1	0	0	0	0	0	0	0	1	8892	1335	47	2		2	LONP1	19	5699184	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		5699184	53429799	17	5960											
ESPN	83715	broad.mit.edu	37	chr1	6511719	6511719	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaactcggagctactggctGagattaaggcaggcaagagc	13	9	0	2			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr1:6511719G>C	uc001amy.3	+	8	2140	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	ESPN_uc001amz.3_Missense_Mutation_p.E92Q	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	658	Pro-rich.|WH2.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCTACTGGCTGAGATTAAGGC	0.637													5	22					0	0	1	0	0	C	6511719	G	C	6511719	3	2	355	1	0	0	0	0	1	0	0	0	5254	1291	45	4	2006	4	ESPN	1	6511719	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08		6511719	242738902	1	5961											
VGLL3	389136	broad.mit.edu	37	chr3	87017837	87017837	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtagttggttctgtcttTgtgatgtcacactggggagc	13	7	3	1			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr3:87017837T>C	uc003dqn.3	-	2	1204	c.840A>G	c.(838-840)acA>acG	p.T280T		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTTCTGTCTTTGTGATGTCAC	0.557													9	29					0	0	1	0	0	C	87017837	T	C	87017837	2	2	355	1	0	0	0	0	0	0	0	1	17157	1799	63	3		3	VGLL3	3	87017837	Silent	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		87017837	111004593	2	5962											
IGSF10	285313	broad.mit.edu	37	chr3	151171242	151171242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatgggtttccatgcagGtaaaggctgtctaggtcagg	14	8	2	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr3:151171242G>A	uc011bod.2	-	2	645	c.645C>T	c.(643-645)taC>taT	p.Y215Y		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	215					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCATGCAGGTAAAGGCTGT	0.413													3	107					0	0	1	0	0	A	151171242	G	A	151171242	2	1	355	1	0	0	0	0	0	0	0	1	7597	1256	44	2		2	IGSF10	3	151171242	Silent	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	64153405	151171242	46851188	3	5963											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				29	63					0	0	1	0	0	T	140453136	A	T	140453136	3	4	355	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08		140453136	18685527	4	5964											
TRIM8	81603	broad.mit.edu	37	chr10	104416787	104416787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccgtgttccccccatcGcagtatcccaatggctccgc	8	19	0	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr10:104416787G>A	uc001kvz.2	+	5	1455	c.1332G>A	c.(1330-1332)tcG>tcA	p.S444S		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	444						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCCCCCATCGCAGTATCCCA	0.657													3	70					0	0	1	0	0	A	104416787	G	A	104416787	2	1	355	1	0	0	0	0	0	0	0	1	16545	1074	38	1		1	TRIM8	10	104416787	Silent	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08		104416787	31117960	5	5965											
ARFGAP2	84364	broad.mit.edu	37	chr11	47189578	47189578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttcccctaaggaaaAgggattgtccttgtacctag	9	9	0	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr11:47189578A>G	uc001ndt.3	-	11	1359	c.1087T>C	c.(1087-1089)Ttt>Ctt	p.F363L	ARFGAP2_uc010rha.2_Missense_Mutation_p.F94L|ARFGAP2_uc010rhb.2_Missense_Mutation_p.F335L|ARFGAP2_uc001ndu.3_Missense_Mutation_p.F227L|ARFGAP2_uc010rhc.2_Missense_Mutation_p.F94L	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	363	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTAAGGAAAAGGGATTGTCC	0.512													3	61					0	0	1	0	0	G	47189578	A	G	47189578	3	3	355	1	0	0	0	0	1	0	0	0	850	72	3	3	498	3	ARFGAP2	11	47189578	Missense_Mutation	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08		47189578	87816938	6	5966											
HSF4	3299	broad.mit.edu	37	chr16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccggaagccagtcccTccccctaagaccccgcgcct	10	20	0	1			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr16:67203680T>C	uc002erl.2	+	14	2436	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_uc002erm.2_Missense_Mutation_p.S461P|HSF4_uc002ern.1_Non-coding_Transcript|HSF4_uc010cec.1_Non-coding_Transcript|NOL3_uc010vjc.2_5'Flank	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	Homo sapiens heat shock transcription factor 4 (HSF4), transcript variant 2, mRNA.	491					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	109					0	0	1	0	0	C	67203680	T	C	67203680	3	2	355	1	0	0	0	0	1	0	0	0	7398	1551	54	3	1535	3	HSF4	16	67203680	Missense_Mutation	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		67203680	23151073	7	5967											
ZFHX3	463	broad.mit.edu	37	chr16	72845826	72845826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctccggtttgatctcctcaGctgtttttggtcgcttcgaa	10	11	2	1			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr16:72845826G>C	uc002fck.3	-	5	4314	c.3641C>G	c.(3640-3642)gCt>gGt	p.A1214G	ZFHX3_uc002fcl.3_Missense_Mutation_p.A300G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1214					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GATCTCCTCAGCTGTTTTTGG	0.542													123	227					0	0	1	0	0	C	72845826	G	C	72845826	3	2	355	1	0	0	0	0	1	0	0	0	17631	971	34	4	7490	4	ZFHX3	16	72845826	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	5642146	72845826	17508927	8	5968											
MYH10	4628	broad.mit.edu	37	chr17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctggcctcctcctcctcctCctgctgctcctgaagactgt	7	19	0	2			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr17:8397110C>G	uc002glm.3	-	31	4246	c.4150G>C	c.(4150-4152)Gag>Cag	p.E1384Q	MYH10_uc002gll.3_Missense_Mutation_p.E1353Q|MYH10_uc010cnx.3_Missense_Mutation_p.E1362Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1353					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587													3	52					0	0	1	0	0	G	8397110	C	G	8397110	3	3	355	1	0	0	0	0	1	0	0	0	10030	864	30	4	1921	4	MYH10	17	8397110	Missense_Mutation	SNP	C	TCGA-FK-A3SB-01A-11D-A22D-08		8397110	72798100	9	5969											
GMIP	51291	broad.mit.edu	37	chr19	19750895	19750895	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaccctgcccccctcaccTggtagtagtctcttttctgc	6	18	3	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:19750895T>C	uc002nnd.3	-	7	654	c.537_splice	c.e7+1	p.Q179_splice	GMIP_uc010xrb.2_Splice_Site_p.Q179_splice|GMIP_uc010xrc.2_Splice_Site_p.Q179_splice	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	179					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCCTCACCTGGTAGTAGTC	0.577													11	32					0	0	1	0	0	C	19750895	T	C	19750895	5	2	355	1	0	0	0	0	0	0	1	0	6491	1594	55	3	2436	3	GMIP	19	19750895	Splice_Site	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		19750895	39378088	10	5970											
MYH14	79784	broad.mit.edu	37	chr19	50812344	50812344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcccgggctcaggccgGccgccggaggctgcagcgtg	18	15	1	0			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:50812344G>A	uc010enu.1	+	41	5917	c.5870G>A	c.(5869-5871)gGc>gAc	p.G1957D	MYH14_uc002prq.1_Missense_Mutation_p.G1924D|MYH14_uc002prr.1_Missense_Mutation_p.G1916D|MYH14_uc010ycb.2_Missense_Mutation_p.G267D|MYH14_uc002prs.1_Missense_Mutation_p.G267D	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1916					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTCAGGCCGGCCGCCGGAGG	0.627													3	100					0	0	1	0	0	A	50812344	G	A	50812344	3	1	355	1	0	0	0	0	1	0	0	0	10033	1203	42	2	6032	2	MYH14	19	50812344	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	31061449	50812344	8316639	11	5971											
CACNG7	59284	broad.mit.edu	37	chr19	54416099	54416099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggatgagtcactgcaGcagccgcgccctgaccctgc	12	15	2	3			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:54416099G>T	uc002qcr.2	+	0	109	c.14G>T	c.(13-15)aGc>aTc	p.S5I	CACNG7_uc010era.2_Missense_Mutation_p.S5I	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	5					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.C4S(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGTCACTGCAGCAGCCGCGCC	0.637											OREG0003671	type=REGULATORY REGION|Gene=CACNG7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	72					0	0	1	0	0	T	54416099	G	T	54416099	3	4	355	1	0	0	0	0	1	0	0	0	2562	971	34	4	16	4	CACNG7	19	54416099	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	3603755	54416099	4712884	12	5972											
EIF3L	51386	broad.mit.edu	37	chr22	38251638	38251638	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaagccattgctccAcaggttggcaatggtaggtg	15	8	0	1			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr22:38251638A>G	uc003auf.3	+	3	438	c.360A>G	c.(358-360)ccA>ccG	p.P120P	EIF3L_uc011ann.2_Silent_p.P120P|EIF3L_uc003aug.3_Intron	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	120						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCATTGCTCCACAGGTTGGCA	0.448													10	29					0	0	1	0	0	G	38251638	A	G	38251638	2	3	355	1	0	0	0	0	0	0	0	1	5022	146	6	3		3	EIF3L	22	38251638	Silent	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08		38251638	13052928	13	5973											
MYOM3	127294	broad.mit.edu	37	chr1	24424482	24424482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgcacagtgtaagttgCtgagtcctcaatggcgcatc	10	12	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:24424482C>T	uc001bin.4	-	6	839	c.676G>A	c.(676-678)Gca>Aca	p.A226T	MYOM3_uc001bim.4_5'Flank|MYOM3_uc001bio.3_Missense_Mutation_p.A226T|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	226	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGTAAGTTGCTGAGTCCTCA	0.582													4	205					0	0	1	0	0	T	24424482	C	T	24424482	3	4	356	1	0	0	0	0	1	0	0	0	10093	797	28	2	3761	2	MYOM3	1	24424482	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08		24424482	224826139	1	5974											
MOV10	4343	broad.mit.edu	37	chr1	113241362	113241362	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatccgttactgcatcaCcaaacttgacagggagcttc	8	11	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:113241362C>G	uc001eck.3	+	16	2804	c.2534C>G	c.(2533-2535)aCc>aGc	p.T845S	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.T845S|MOV10_uc001ecm.3_Missense_Mutation_p.T785S	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	845					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TACTGCATCACCAAACTTGAC	0.557													4	283					0	0	1	0	0	G	113241362	C	G	113241362	3	3	356	1	0	0	0	0	1	0	0	0	9718	507	18	4	2596	4	MOV10	1	113241362	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08	88816880	113241362	136009259	2	5975											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859906	144859906	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgttcccctgaatgctctGctccagctgccctctcagag	8	15	2	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:144859906G>T	uc021ouh.1	-	37	6480	c.6178C>A	c.(6178-6180)Cag>Aag	p.Q2060K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q2060K|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q1954K|PDE4DIP_uc001elv.4_Missense_Mutation_p.Q1067K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2060					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAATGCTCTGCTCCAGCTGC	0.577			T	PDGFRB	MPD								8	135					0	0	1	0	0	T	144859906	G	T	144859906	3	4	356	1	0	0	0	0	1	0	0	0	11643	1328	46	4	890	4	PDE4DIP	1	144859906	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	31618544	144859906	104390715	3	5976											
NCOA1	8648	broad.mit.edu	37	chr2	24964736	24964736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcagctaatacagcaGcaaagagccatgcttatgag	11	9	0	3			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:24964736G>A	uc002rfk.3	+	16	3646	c.3387G>A	c.(3385-3387)caG>caA	p.Q1129Q	NCOA1_uc010eye.3_Silent_p.Q1129Q|NCOA1_uc002rfi.3_Silent_p.Q978Q|NCOA1_uc002rfj.3_Silent_p.Q1129Q|NCOA1_uc002rfl.3_Silent_p.Q1129Q|NCOA1_uc010eyf.3_Silent_p.Q22Q	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1129	Gln-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATACAGCAGCAAAGAGCCA	0.522			T	PAX3	alveolar rhadomyosarcoma								3	76					0	0	1	0	0	A	24964736	G	A	24964736	2	1	356	1	0	0	0	0	0	0	0	1	10228	962	34	2		2	NCOA1	2	24964736	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		24964736	218234637	4	5977											
FBXO11	80204	broad.mit.edu	37	chr2	48066119	48066119	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcatctggcagtttctcctGaagatactgttcagcaggtg	10	9	4	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:48066119G>A	uc002rwe.3	-	3	539	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	FBXO11_uc010fbl.3_Nonsense_Mutation_p.Q72*|FBXO11_uc002rwg.2_Nonsense_Mutation_p.Q156*|FBXO11_uc021vhe.1_5'Flank	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	156	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTTCTCCTGAAGATACTGT	0.353			"Mis, F, D"		DLBCL								5	101					0	0	1	0	0	A	48066119	G	A	48066119	4	1	356	1	0	0	0	0	0	1	0	0	5727	1299	45	2	2487	2	FBXO11	2	48066119	Nonsense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	23101383	48066119	195133254	5	5978											
KBTBD10	10324	broad.mit.edu	37	chr2	170367185	170367185	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgacattcccaggcatggAatgtttgtaaaagacctcat	8	8	1	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:170367185A>C	uc002ueu.1	+	0	974	c.897A>C	c.(895-897)ggA>ggC	p.G299G	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	299					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						CCAGGCATGGAATGTTTGTAA	0.473													3	80					0	0	1	0	0	C	170367185	A	C	170367185	2	2	356	1	0	0	0	0	0	0	0	1	7990	233	9	5		5	KBTBD10	2	170367185	Silent	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	122301066	170367185	72832188	6	5979											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69107516	69107516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatctttgggaagatatGccgtgcctatgaaagaggaa	12	6	1	4			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69107516G>A	uc003hdw.4	-	1	151	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	5					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGGAAGATATGCCGTGCCTAT	0.378													15	36					0	0	1	0	0	A	69107516	G	A	69107516	2	1	356	1	0	0	0	0	0	0	0	1	16237	1306	46	2		2	TMPRSS11B	4	69107516	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		69107516	122046760	7	5980											
UGT2B7	7364	broad.mit.edu	37	chr4	69962710	69962710	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgctatttttccctgtagtGagctgctggctgagctattt	10	8	0	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69962710G>A	uc003heg.4	+	0	518	c.472G>A	c.(472-474)Gag>Aag	p.E158K	UGT2B7_uc010ihq.3_Missense_Mutation_p.E158K	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	158					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCTGTAGTGAGCTGCTGGC	0.368													36	117					0	0	1	0	0	A	69962710	G	A	69962710	3	1	356	1	0	0	0	0	1	0	0	0	16959	1291	45	2	474	2	UGT2B7	4	69962710	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	855194	69962710	121191566	8	5981											
PPWD1	23398	broad.mit.edu	37	chr5	64875316	64875317	+	Missense_Mutation	DNP	TA	TA	GC													attggctttgttccaggggaTagccaaaaagcatcgtgctg							TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:64875316_64875317TA>GC	uc003jtv.4	+	6	1233_1234	c.1226_1227TA>GC	c.(1225-1227)ata>aGC	p.I409S	PPWD1_uc011cqv.2_Missense_Mutation_p.I379S|PPWD1_uc011cqw.2_Missense_Mutation_p.I253S	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	409					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TTCCAGGGGATAGCCAAAAAGC	0.356													3	71					0	0	1	0	0	GC	64875317	TA	GC	64875316	3	3	356	1	0	0	0	0	1	0	0	0	12414	1406	49	5	1252	5	PPWD1	5	64875316	Missense_Mutation	DNP	TA	TCGA-FK-A3SD-01A-11D-A22D-08		64875316	116039944	9	5982											
IK	3550	broad.mit.edu	37	chr5	140038918	140038918	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccatggacgttgacaaaGgtgagttgtacacacagcat	11	9	0	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:140038918G>T	uc003lgq.3	+	13	1305	c.1195_splice	c.e13+1	p.G399_splice	IK_uc021yen.1_Splice_Site_p.G340_splice|U7_uc021yeo.1_5'Flank	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	399					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGACAAAGGTGAGTTGTA	0.498													4	78					0	0	1	0	0	T	140038918	G	T	140038918	5	4	356	1	0	0	0	0	0	0	1	0	7608	1014	35	4	1245	4	IK	5	140038918	Splice_Site	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	75163602	140038918	40876342	10	5983											
ZBTB22	9278	broad.mit.edu	37	chr6	33283595	33283595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccccttgtctggggGctcactcagggtacggacat	11	15	3	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:33283595G>A	uc003oeb.3	-	1	1251	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.P367S|ZBTB22_uc021ywm.1_Missense_Mutation_p.P367S	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TTGTCTGGGGGCTCACTCAGG	0.577													14	156					0	0	1	0	0	A	33283595	G	A	33283595	3	1	356	1	0	0	0	0	1	0	0	0	17527	1203	42	2	809	2	ZBTB22	6	33283595	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		33283595	137831472	11	5984											
TBC1D22B	55633	broad.mit.edu	37	chr6	37254821	37254821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgaatcctctcattccGttgttccagcaaccacttgt	7	13	1	0	rs74511891	by1000genomes	TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:37254821G>A	uc003onn.3	+	6	986	c.840G>A	c.(838-840)ccG>ccA	p.P280P	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	280	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.P280Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CTCTCATTCCGTTGTTCCAGC	0.418													70	96					0	0	1	0	0	A	37254821	G	A	37254821	2	1	356	1	0	0	0	0	0	0	0	1	15609	1132	40	1		1	TBC1D22B	6	37254821	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	3971226	37254821	133860246	12	5985											
MDN1	23195	broad.mit.edu	37	chr6	90371839	90371839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattaattttgtcttcaccTtgtccaccatcatcagcttc	3	13	5	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:90371839T>C	uc003pnn.1	-	86	14648	c.14532A>G	c.(14530-14532)caA>caG	p.Q4844Q		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4844					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTCTTCACCTTGTCCACCAT	0.388													3	172					0	0	1	0	0	C	90371839	T	C	90371839	2	2	356	1	0	0	0	0	0	0	0	1	9415	1606	56	3		3	MDN1	6	90371839	Silent	SNP	T	TCGA-FK-A3SD-01A-11D-A22D-08	53117018	90371839	80743228	13	5986											
ELMO1	9844	broad.mit.edu	37	chr7	37172827	37172827	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgaagtccatggcagGgttgacatgattctgtgagt	14	7	1	4			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr7:37172827G>C	uc022abv.1	-	13	1809	c.1099C>G	c.(1099-1101)Cct>Gct	p.P367A	ELMO1_uc011kbc.2_Missense_Mutation_p.P271A|ELMO1_uc003tfk.2_Missense_Mutation_p.P367A|ELMO1_uc010kxg.2_Missense_Mutation_p.P367A	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	367	ELMO.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCATGGCAGGGTTGACATGA	0.463													32	71					0	0	1	0	0	C	37172827	G	C	37172827	3	2	356	1	0	0	0	0	1	0	0	0	5065	1232	43	4	1120	4	ELMO1	7	37172827	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		37172827	121965836	14	5987											
ARMC3	219681	broad.mit.edu	37	chr10	23292246	23292246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcagtgaggcagcttataAtaagttgctcaataacaatc	7	7	2	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:23292246A>G	uc001irm.4	+	12	1717	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	ARMC3_uc010qcv.2_Missense_Mutation_p.N545S|ARMC3_uc010qcw.2_Missense_Mutation_p.N282S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	545							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGCTTATAATAAGTTGCTC	0.348													17	101					0	0	1	0	0	G	23292246	A	G	23292246	3	3	356	1	0	0	0	0	1	0	0	0	952	101	4	3	1680	3	ARMC3	10	23292246	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08		23292246	112242501	15	5988											
SUPV3L1	6832	broad.mit.edu	37	chr10	70968592	70968592	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctctagggagtaaagctaCtgagccacccagccccgatg	11	13	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:70968592C>G	uc001jpe.1	+	14	2217	c.2162C>G	c.(2161-2163)aCt>aGt	p.T721S	SUPV3L1_uc010qjd.1_Missense_Mutation_p.T590S	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	721	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTAAAGCTACTGAGCCACCC	0.537													3	83					0	0	1	0	0	G	70968592	C	G	70968592	3	3	356	1	0	0	0	0	1	0	0	0	15399	565	20	4	2220	4	SUPV3L1	10	70968592	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08	47676346	70968592	64566155	16	5989											
PTDSS2	81490	broad.mit.edu	37	chr11	490485	490485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaggatgaccagggcaGcaccgtcggcaacggggacc	15	12	0	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:490485G>A	uc001lpj.3	+	11	1543	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	456						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GACCAGGGCAGCACCGTCGGC	0.657													3	52					0	0	1	0	0	A	490485	G	A	490485	3	1	356	1	0	0	0	0	1	0	0	0	12737	971	34	2	1413	2	PTDSS2	11	490485	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		490485	134516031	17	5990											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956155	18956155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgtagatggagaaggcGttcctgcgcatgcggcagcc	16	9	0	2			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:18956155G>A	uc001mpg.3	-	0	395	c.177C>T	c.(175-177)aaC>aaT	p.N59N		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	59					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGAGAAGGCGTTCCTGCGCA	0.562													6	202					0	0	1	0	0	A	18956155	G	A	18956155	2	1	356	1	0	0	0	0	0	0	0	1	9766	1136	40	1		1	MRGPRX1	11	18956155	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	18465670	18956155	116050361	18	5991											
NRXN2	9379	broad.mit.edu	37	chr11	64415766	64415766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccactgctgcaagcagaCgccctggttggcacaggact	11	14	0	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:64415766C>T	uc021qkw.1	-	16	3790	c.3328G>A	c.(3328-3330)Gtc>Atc	p.V1110I	NRXN2_uc021qkx.1_Missense_Mutation_p.V1070I|NRXN2_uc001oas.3_Missense_Mutation_p.V1070I|NRXN2_uc001oaq.3_Missense_Mutation_p.V777I	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1110	EGF-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCAAGCAGACGCCCTGGTTG	0.632													5	110					0	0	1	0	0	T	64415766	C	T	64415766	3	4	356	1	0	0	0	0	1	0	0	0	10666	536	19	1	2107	1	NRXN2	11	64415766	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08	45459611	64415766	70590750	19	5992											
SYT12	91683	broad.mit.edu	37	chr11	66807525	66807525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacactgggccaggtggagGtgagcatggagtacgacact	15	9	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:66807525G>A	uc009yrl.3	+	3	702	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	SYT12_uc001oju.3_Missense_Mutation_p.V158M	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	158						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCAGGTGGAGGTGAGCATGGA	0.627													5	113					0	0	1	0	0	A	66807525	G	A	66807525	3	1	356	1	0	0	0	0	1	0	0	0	15465	1261	44	2	482	2	SYT12	11	66807525	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	2391759	66807525	68198991	20	5993											
MOGAT2	80168	broad.mit.edu	37	chr11	75442250	75442250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccagctgcaccagcgttaTatcaaagagctgtgcaacct	8	12	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:75442250T>C	uc010rru.2	+	5	924	c.924T>C	c.(922-924)taT>taC	p.Y308Y	MOGAT2_uc010rrv.2_Silent_p.Y226Y	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	308					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					ACCAGCGTTATATCAAAGAGC	0.562													4	127					0	0	1	0	0	C	75442250	T	C	75442250	2	2	356	1	0	0	0	0	0	0	0	1	9695	1413	49	3		3	MOGAT2	11	75442250	Silent	SNP	T	TCGA-FK-A3SD-01A-11D-A22D-08	8634725	75442250	59564266	21	5994											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035909	110035909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaaagttccatcacaAgcctcctcttccgcacctgg	6	16	2	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:110035909A>G	uc010rwc.2	+	5	2102	c.2102A>G	c.(2101-2103)aAg>aGg	p.K701R	ZC3H12C_uc009yxw.3_Missense_Mutation_p.K700R|ZC3H12C_uc010rwd.2_Missense_Mutation_p.K701R|ZC3H12C_uc001pkr.4_Missense_Mutation_p.K669R	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	700							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTCCATCACAAGCCTCCTCTT	0.587													12	311					0	0	1	0	0	G	110035909	A	G	110035909	3	3	356	1	0	0	0	0	1	0	0	0	17560	72	3	3	2121	3	ZC3H12C	11	110035909	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	34593659	110035909	24970607	22	5995											
MLL	4297	broad.mit.edu	37	chr11	118361935	118361935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgccctctctgtgacaAatgttatgatgatgatgact	8	9	2	5			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:118361935A>G	uc001ptb.3	+	13	4744	c.4721A>G	c.(4720-4722)aAa>aGa	p.K1574R	MLL_uc001pta.3_Missense_Mutation_p.K1574R|MLL_uc001pte.1_Non-coding_Transcript	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.	1574					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCTGTGACAAATGTTATGAT	0.433			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								3	159					0	0	1	0	0	G	118361935	A	G	118361935	3	3	356	1	0	0	0	0	1	0	0	0	9620	14	1	3	4775	3	MLL	11	118361935	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	8326026	118361935	16644581	23	5996											
SRPR	6734	broad.mit.edu	37	chr11	126134958	126134958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctctggagggtgtaggGcactcaaacgccgggtgtgt	16	9	2	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:126134958G>A	uc001qdh.3	-	10	1599	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	SRPR_uc010sbm.2_Missense_Mutation_p.A446V	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	474					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGGGTGTAGGGCACTCAAACG	0.552													3	49					0	0	1	0	0	A	126134958	G	A	126134958	3	1	356	1	0	0	0	0	1	0	0	0	15161	1203	42	2	511	2	SRPR	11	126134958	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	7773023	126134958	8871558	24	5997											
ITPR2	3709	broad.mit.edu	37	chr12	26731693	26731693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccactgaggctttctgcGctgggtttggccaggtgcaa	13	10	1	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:26731693G>A	uc001rhg.3	-	33	5000	c.4583C>T	c.(4582-4584)gCg>gTg	p.A1528V		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1528					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGCTTTCTGCGCTGGGTTTGG	0.393													12	123					0	0	1	0	0	A	26731693	G	A	26731693	3	1	356	1	0	0	0	0	1	0	0	0	7921	1087	38	1	3618	1	ITPR2	12	26731693	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		26731693	107120202	25	5998											
PA2G4	5036	broad.mit.edu	37	chr12	56500441	56500441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgtgtgagaaaggtgAtgccatgattatggaagaaa	14	4	0	4			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:56500441A>G	uc001sjm.3	+	1	577	c.158A>G	c.(157-159)gAt>gGt	p.D53G		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	53	RNA-binding.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			gagaaaggtgatgccatgATT	0.433													20	34					0	0	1	0	0	G	56500441	A	G	56500441	3	3	356	1	0	0	0	0	1	0	0	0	11361	333	12	3	164	3	PA2G4	12	56500441	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	29768748	56500441	77351454	26	5999											
EID3	493861	broad.mit.edu	37	chr12	104698071	104698071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaatcagttagcattttGtgactttctgtttctgttcg	7	7	3	1			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:104698071G>A	uc001tkw.3	+	0	562	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	TXNRD1_uc021rcx.1_Intron|TXNRD1_uc021rcy.1_Intron|TXNRD1_uc021rcz.1_Intron|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Intron|TXNRD1_uc001tku.3_Intron|TXNRD1_uc001tkv.2_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 3 (EID3), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTAGCATTTTGTGACTTTCTG	0.428													5	247					0	0	1	0	0	A	104698071	G	A	104698071	3	1	356	1	0	0	0	0	1	0	0	0	4989	1377	48	2	361	2	EID3	12	104698071	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	48197630	104698071	29153824	27	6000											
PRKD1	5587	broad.mit.edu	37	chr14	30133033	30133033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaattgttgggtattttaaAtgcacatctcttatggtaat	8	5	1	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr14:30133033A>G	uc001wqh.3	-	3	749	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	190					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGTATTTTAAATGCACATCTC	0.403													12	228					0	0	1	0	0	G	30133033	A	G	30133033	3	3	356	1	0	0	0	0	1	0	0	0	12518	101	4	3	2230	3	PRKD1	14	30133033	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08		30133033	77216507	28	6001											
SULT1A1	6817	broad.mit.edu	37	chr16	28620147	28620147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcacgtactccagtggCgggcgggaggtgtcctggat	15	12	1	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr16:28620147C>T	uc002dqn.3	-	4	895	c.303G>A	c.(301-303)ccG>ccA	p.P101P	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.P10P|SULT1A1_uc002dqi.3_Silent_p.P10P|SULT1A1_uc002dqk.3_Silent_p.P10P|SULT1A1_uc002dql.3_Silent_p.P10P|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.P10P	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	p.P100L(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ACTCCAGTGGCGGGCGGGAGG	0.607													14	77					0	0	1	0	0	T	28620147	C	T	28620147	2	4	356	1	0	0	0	0	0	0	0	1	15371	755	27	1		1	SULT1A1	16	28620147	Silent	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08		28620147	61734606	29	6002											
MYO1C	4641	broad.mit.edu	37	chr17	1381773	1381773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgctccgccagctgGggctctccacgtcctagggc	14	16	1	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:1381773G>A	uc002fsp.3	-	10	1446	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	MYO1C_uc002fsn.3_Missense_Mutation_p.P390L|MYO1C_uc002fso.3_Missense_Mutation_p.P374L|MYO1C_uc010vqj.1_Missense_Mutation_p.P374L|MYO1C_uc010vqk.1_Missense_Mutation_p.P385L	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	409	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGCCAGCTGGGGCTCTCCAC	0.652													5	84					0	0	1	0	0	A	1381773	G	A	1381773	3	1	356	1	0	0	0	0	1	0	0	0	10070	1232	43	2	2053	2	MYO1C	17	1381773	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		1381773	79813437	30	6003											
USP36	57602	broad.mit.edu	37	chr17	76802345	76802345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggacggaggtcattgccGgtcgccctccacagggtgct	16	12	1	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:76802345G>A	uc002jvz.1	-	14	2434	c.2109C>T	c.(2107-2109)acC>acT	p.T703T	USP36_uc002jwa.1_Silent_p.T703T|USP36_uc002jwb.1_Silent_p.T340T|USP36_uc002jwc.1_Silent_p.T403T	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	703					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.T703T(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGTCATTGCCGGTCGCCCTCC	0.542													3	108					0	0	1	0	0	A	76802345	G	A	76802345	2	1	356	1	0	0	0	0	0	0	0	1	17064	1103	39	1		1	USP36	17	76802345	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	75420572	76802345	4392865	31	6004											
LSR	51599	broad.mit.edu	37	chr19	35757281	35757281	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatgccgccggcaaagcAgccacctcaggtgttcccag	12	14	1	0			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:35757281A>T	uc002nyl.3	+	5	1165	c.942A>T	c.(940-942)gcA>gcT	p.A314A	LSR_uc010xsr.2_Silent_p.A206A|LSR_uc002nym.3_Silent_p.A295A|LSR_uc002nyn.3_Silent_p.A246A|LSR_uc002nyo.3_Silent_p.A295A|LSR_uc002nyp.3_Silent_p.A277A|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	314					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGGCAAAGCAGCCACCTCAG	0.617													7	202					0	0	1	0	0	T	35757281	A	T	35757281	2	4	356	1	0	0	0	0	0	0	0	1	9064	175	7	5		5	LSR	19	35757281	Silent	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08		35757281	23371702	32	6005											
ZNF611	81856	broad.mit.edu	37	chr19	53208567	53208567	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aactctatgatggcatacaaGgtatgacctgtgactgaagg	11	7	1	4			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:53208567G>C	uc002pzz.3	-	6	2058	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V	ZNF611_uc010eqc.3_Missense_Mutation_p.L511V|ZNF611_uc010ydo.2_Missense_Mutation_p.L511V|ZNF611_uc010ydp.2_Missense_Mutation_p.L581V|ZNF611_uc010ydq.2_Missense_Mutation_p.L581V|ZNF611_uc010ydr.2_Missense_Mutation_p.L512V|ZNF611_uc002qaa.4_Missense_Mutation_p.L511V|ZNF611_uc021uyy.1_Missense_Mutation_p.L512V	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGGCATACAAGGTATGACCTG	0.438													19	399					0	0	1	0	0	C	53208567	G	C	53208567	3	2	356	1	0	0	0	0	1	0	0	0	18034	1000	35	4	380	4	ZNF611	19	53208567	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	17451286	53208567	5920416	33	6006											
MAGEB3	4114	broad.mit.edu	37	chrX	30254993	30254993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagatgaggaagaaagaGtccaagctgcagctatgctc	13	7	0	5			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:30254993G>A	uc004dca.2	+	4	1689	c.952G>A	c.(952-954)Gtc>Atc	p.V318I	MAGEB3_uc022bug.1_Missense_Mutation_p.V318I	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	318								p.V318V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GGAAGAAAGAGTCCAAGCTGC	0.502													3	40					0	0	1	0	0	A	30254993	G	A	30254993	3	1	356	1	0	0	0	0	1	0	0	0	9177	1029	36	2	954	2	MAGEB3	23	30254993	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		30254993	125015567	34	6007											
PAK3	5063	broad.mit.edu	37	chrX	110406220	110406220	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagaagaagaagaAgatgaaaatgagccaccacc	12	6	0	8			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:110406220A>T	uc010npv.1	+	6	681	c.654A>T	c.(652-654)gaA>gaT	p.E218D	PAK3_uc010npt.1_Missense_Mutation_p.E182D|PAK3_uc010npu.1_Missense_Mutation_p.E182D|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.E182D|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.E203D|PAK3_uc004epa.2_Missense_Mutation_p.E197D	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity	p.E182D(1)|p.E218D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						aagaagaagaagatgaaAATG	0.403										TSP Lung(19;0.15)			4	117					0	0	1	0	0	T	110406220	A	T	110406220	3	4	356	1	0	0	0	0	1	0	0	0	11402	69	3	5	680	5	PAK3	23	110406220	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	80151227	110406220	44864340	35	6008											
NCL	4691	broad.mit.edu	37	chr2	232326634	232326634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagctgctttcttggctGgtgtggcaactgcaaccttt	11	10	1	1			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:232326634G>A	uc002vru.3	-	2	371	c.230C>T	c.(229-231)cCa>cTa	p.P77L	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	77	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTCTTGGCTGGTGTGGCAAC	0.512													4	190					0	0	1	0	0	A	232326634	G	A	232326634	3	1	357	1	0	0	0	0	1	0	0	0	10226	1348	47	2	1950	2	NCL	2	232326634	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		232326634	10872739	1	6009											
LRRFIP1	9208	broad.mit.edu	37	chr2	238667405	238667405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaagagttctttgattccGtaaggagtgaacgggatgat	13	4	1	5			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:238667405G>T	uc002vxc.3	+	17	1322	c.1258G>T	c.(1258-1260)Gta>Tta	p.V420L	LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxe.3_Intron|LRRFIP1_uc002vxd.3_Intron|LRRFIP1_uc002vxf.3_Intron	NM_001137550	NP_001131022	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 1, mRNA.	288					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTTTGATTCCGTAAGGAGTGA	0.383													48	66					0	0	1	0	0	T	238667405	G	T	238667405	3	4	357	1	0	0	0	0	1	0	0	0	9027	1145	40	4	1398	4	LRRFIP1	2	238667405	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	6340771	238667405	4531968	2	6010											
CCDC39	339829	broad.mit.edu	37	chr3	180370001	180370001	+	Frame_Shift_Del	DEL	C	C	-													atcttggaaatatttttcctCagagcttctaaatcactgga							TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr3:180370001delC	uc010hxe.3	-	7	1099	c.984delG	c.(982-984)ctgfs	p.L328fs	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	328					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TATTTTTCCTCAGAGCTTCTA	0.274													2	4	---	---	---	---						-	180370001	C	-	180370001	7	5	357	1	0	1	0	1	0	0	0	0	2811	813	29	0	1893	0	CCDC39	3	180370001	Frame_Shift_Del	DEL	C	TCGA-FK-A3SE-01A-11D-A22D-08		180370001	17652429	3	6011											
TERT	7015	broad.mit.edu	37	chr5	1280418	1280418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcctgacctctgcttccGacagctcccgcagctgcacc	9	19	1	1			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:1280418G>A	uc003jcb.1	-	3	1863	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.S602L|TERT_uc003jca.1_Missense_Mutation_p.S602L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.S54L	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	602					DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCTGCTTCCGACAGCTCCCG	0.632									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	82					0	0	1	0	0	A	1280418	G	A	1280418	3	1	357	1	0	0	0	0	1	0	0	0	15761	1059	37	1	1645	1	TERT	5	1280418	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		1280418	179634842	4	6012											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334494	132334494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgatgaagaatcactGgcagaactgtcactgctact	8	11	3	4			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:132334494G>A	uc003kyh.3	-	4	371	c.360C>T	c.(358-360)gcC>gcT	p.A120A	ZCCHC10_uc003kyg.3_Silent_p.A98A|ZCCHC10_uc011cxl.2_Silent_p.A84A	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.	120	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAATCACTGGCAGAACTGT	0.438													48	69					0	0	1	0	0	A	132334494	G	A	132334494	2	1	357	1	0	0	0	0	0	0	0	1	17576	1335	47	2		2	ZCCHC10	5	132334494	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	131054076	132334494	48580766	5	6013											
C9orf69	90120	broad.mit.edu	37	chr9	139008660	139008660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgggccaggtgggaggcGcgcacgggcccgcaggccgc	21	14	0	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr9:139008660G>A	uc004cgx.4	-	1	612	c.161C>T	c.(160-162)gCg>gTg	p.A54V	C9orf69_uc004cgy.2_Non-coding_Transcript	NM_152833	NP_690046			Homo sapiens chromosome 9 open reading frame 69 (C9orf69), mRNA.											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GGTGGGAGGCGCGCACGGGCC	0.667													12	20					0	0	1	0	0	A	139008660	G	A	139008660	3	1	357	1	0	0	0	0	1	0	0	0	2492	1087	38	1	250	1	C9orf69	9	139008660	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		139008660	2204771	6	6014											
PPRC1	23082	broad.mit.edu	37	chr10	103898733	103898733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggcagcagtagagggaGtggggtaagcctgacctaga	16	7	0	3			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr10:103898733G>A	uc001kum.3	+	3	626	c.587G>A	c.(586-588)aGt>aAt	p.S196N	PPRC1_uc001kun.3_Missense_Mutation_p.S76N|PPRC1_uc010qqj.2_Missense_Mutation_p.S196N|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTAGAGGGAGTGGGGTAAGC	0.557													3	86					0	0	1	0	0	A	103898733	G	A	103898733	3	1	357	1	0	0	0	0	1	0	0	0	12410	1029	36	2	601	2	PPRC1	10	103898733	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		103898733	31636014	7	6015											
TSPAN4	7106	broad.mit.edu	37	chr11	864455	864455	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agttcttcctgctgctgctgCtggtgttcctgctggaggcc	13	12	1	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr11:864455C>G	uc001lsd.1	+	4	483	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_uc001lse.1_Missense_Mutation_p.L28V|TSPAN4_uc001lsf.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsg.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsh.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsi.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsj.1_Missense_Mutation_p.L92V	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672													3	198					0	0	1	0	0	G	864455	C	G	864455	3	3	357	1	0	0	0	0	1	0	0	0	16646	796	28	4	284	4	TSPAN4	11	864455	Missense_Mutation	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		864455	134142061	8	6016											
AMHR2	269	broad.mit.edu	37	chr12	53819001	53819001	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggctgttcctcctcctcctGctgctgctgggcagcatcat	11	15	1	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr12:53819001G>C	uc001scx.2	+	3	557	c.477G>C	c.(475-477)ctG>ctC	p.L159L	AMHR2_uc009zmy.2_Silent_p.L159L|AMHR2_uc021qyg.1_Silent_p.L159L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	159					Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.L158L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCTCCTCCTGCTGCTGCTGG	0.587													3	169					0	0	1	0	0	C	53819001	G	C	53819001	2	2	357	1	0	0	0	0	0	0	0	1	573	1306	46	4		4	AMHR2	12	53819001	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		53819001	80032894	9	6017											
SLC12A4	6560	broad.mit.edu	37	chr16	67986272	67986272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atattgttcaaagtggcattCgacgtgtcatgagcacccga	10	9	2	1			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr16:67986272C>T	uc010cew.1	-	7	889	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	SLC12A4_uc010ceu.2_Silent_p.S238S|SLC12A4_uc010vkh.1_Silent_p.S213S|SLC12A4_uc002euz.2_Silent_p.S244S|SLC12A4_uc010vki.1_Silent_p.S244S|SLC12A4_uc010vkj.1_Silent_p.S246S|SLC12A4_uc002eva.2_Silent_p.S244S|SLC12A4_uc002evb.2_Non-coding_Transcript			Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 5, mRNA.	0					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGTGGCATTCGACGTGTCAT	0.453													48	85					0	0	1	0	0	T	67986272	C	T	67986272	3	4	357	1	0	0	0	0	1	0	0	0	14385	871	31	1	2597	1	SLC12A4	16	67986272	Missense_Mutation	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		67986272	22368481	10	6018											
CASKIN2	57513	broad.mit.edu	37	chr17	73498980	73498980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttcctctcctgggggggGctgggatctccaccgctggg	17	12	2	0			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr17:73498980G>A	uc002joc.3	-	17	2725	c.2175C>T	c.(2173-2175)agC>agT	p.S725S	CASKIN2_uc010wsc.2_Silent_p.S643S	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	725	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGGGGGGGCTGGGATCTC	0.647													3	57					0	0	1	0	0	A	73498980	G	A	73498980	2	1	357	1	0	0	0	0	0	0	0	1	2667	1194	42	2		2	CASKIN2	17	73498980	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		73498980	7696230	11	6019											
SLC1A6	6511	broad.mit.edu	37	chr19	15073100	15073100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcacccggctcagaccCgttctctgtcctcaccatgg	11	16	3	1			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr19:15073100C>T	uc002naa.1	-	4	656	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	SLC1A6_uc010dzu.1_Missense_Mutation_p.G217R|SLC1A6_uc010xod.1_Missense_Mutation_p.G153R|SLC1A6_uc002nab.3_Missense_Mutation_p.G217R|SLC1A6_uc002nac.3_Missense_Mutation_p.G217R	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	217					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGCTCAGACCCGTTCTCTGTC	0.552													55	103					0	0	1	0	0	T	15073100	C	T	15073100	3	4	357	1	0	0	0	0	1	0	0	0	14436	652	23	1	1065	1	SLC1A6	19	15073100	Missense_Mutation	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		15073100	44055883	12	6020											
C20orf144	128864	broad.mit.edu	37	chr20	32251496	32251497	+	In_Frame_Ins	INS	-	-	CTG													gcgagccgaggatgccggtaINSctgctgctgctgcggcggca							TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:32251496_32251497insCTG	uc002wzs.2	+	1	345_346	c.285_286insCTG	c.(283-288)insCTG	p.99_100insL	NECAB3_uc002wzl.3_5'Flank|NECAB3_uc002wzm.4_Intron|NECAB3_uc002wzn.4_Intron|NECAB3_uc002wzo.4_Intron|ACTL10_uc002wzt.3_5'Flank	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN	Homo sapiens chromosome 20 open reading frame 144 (C20orf144), mRNA.	99										lung(1)	1						GGATGCCGGTACTGCTGCTGCT	0.748													6	6	---	---	---	---						CTG	32251497	-	CTG	32251496	7	5	357	1	0	1	1	0	0	0	0	0	2090	378	14	0	291	0	C20orf144	20	32251496	In_Frame_Ins	INS	-	TCGA-FK-A3SE-01A-11D-A22D-08		32251496	30774024	13	6021											
FITM2	128486	broad.mit.edu	37	chr20	42935521	42935521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagtggcttcggtccGtcttcacctcatgcagcaca	12	13	3	0	rs138125328		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:42935521G>A	uc002xlr.1	-	1	634	c.533C>T	c.(532-534)aCg>aTg	p.T178M		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 2 (FITM2), mRNA.	178					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						GCTTCGGTCCGTCTTCACCTC	0.542													3	78					0	0	1	0	0	A	42935521	G	A	42935521	3	1	357	1	0	0	0	0	1	0	0	0	5899	1145	40	1	259	1	FITM2	20	42935521	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	10684025	42935521	20089999	14	6022											
KIF1B	23095	broad.mit.edu	37	chr1	10394681	10394681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatttctgcgtgtggctGtacaggccatcgcaggtagg	17	8	1	0			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:10394681G>A	uc001aqz.3	+	26	3107	c.3028G>A	c.(3028-3030)Gta>Ata	p.V1010I	KIF1B_uc001aqw.4_Missense_Mutation_p.V964I|KIF1B_uc001aqx.4_Missense_Mutation_p.V1010I|KIF1B_uc001aqy.3_Missense_Mutation_p.V984I|KIF1B_uc001ara.3_Missense_Mutation_p.V970I|KIF1B_uc001arb.3_Missense_Mutation_p.V996I	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1010					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCGTGTGGCTGTACAGGCCAT	0.517													4	91					0	0	1	0	0	A	10394681	G	A	10394681	3	1	358	1	0	0	0	0	1	0	0	0	8284	1377	48	2	4477	2	KIF1B	1	10394681	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		10394681	238855940	1	6023											
NEXN	91624	broad.mit.edu	37	chr1	78383724	78383724	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgttccaaaattaacagGtaagaagcttgaggggtaaa	10	4	0	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:78383724G>A	uc001dic.4	+	4	595	c.298_splice	c.e4+1	p.G100_splice	NEXN_uc001dia.3_Splice_Site_p.G100_splice|NEXN_uc009wcb.1_Splice_Site_p.G36_splice|NEXN_uc001dib.4_Splice_Site_p.G36_splice|NEXN_uc001did.1_Splice_Site_p.G24_splice|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	100	Glu-rich.			YVPKLTGT -> NLPFTVP (in Ref. 3; AAD29607).	regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAACAGGTAAGAAGCTT	0.284													3	64					0	0	1	0	0	A	78383724	G	A	78383724	5	1	358	1	0	0	0	0	0	0	1	0	10355	1275	44	2	309	2	NEXN	1	78383724	Splice_Site	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08	67989043	78383724	170866897	2	6024											
HPCAL1	3241	broad.mit.edu	37	chr2	10560174	10560174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacctcgcggggcaagctGgagcagaagctcaagtgggc	17	10	1	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr2:10560174G>A	uc002raj.3	+	2	665	c.291G>A	c.(289-291)ctG>ctA	p.L97L	HPCAL1_uc002ral.3_Silent_p.L97L|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.L97L	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	97	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGGGCAAGCTGGAGCAGAAGC	0.637													3	78					0	0	1	0	0	A	10560174	G	A	10560174	2	1	358	1	0	0	0	0	0	0	0	1	7330	1335	47	2		2	HPCAL1	2	10560174	Silent	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		10560174	232639199	3	6025											
SRP72	6731	broad.mit.edu	37	chr4	57340448	57340448	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tattttgtcccctgacaggaGaacctgggcctccaagaagg	11	11	0	3			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr4:57340448G>C	uc003hbv.3	+	4	541	c.501G>C	c.(499-501)gaG>gaC	p.E167D	SRP72_uc010ihe.3_Missense_Mutation_p.E167D	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	167					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCTGACAGGAGAACCTGGGCC	0.448													6	187					0	0	1	0	0	C	57340448	G	C	57340448	3	2	358	1	0	0	0	0	1	0	0	0	15156	933	33	4	519	4	SRP72	4	57340448	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		57340448	133813828	4	6026											
BDP1	55814	broad.mit.edu	37	chr5	70858315	70858315	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccaagtgttattactactCaatctgagaatattagcagc	6	9	2	1			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr5:70858315C>T	uc003kbp.1	+	37	7974	c.7711C>T	c.(7711-7713)Caa>Taa	p.Q2571*	BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2571					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATTACTACTCAATCTGAGAA	0.348													17	82					0	0	1	0	0	T	70858315	C	T	70858315	4	4	358	1	0	0	0	0	0	1	0	0	1395	827	29	2	7861	2	BDP1	5	70858315	Nonsense_Mutation	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		70858315	110056945	5	6027											
SMPD2	6610	broad.mit.edu	37	chr6	109763769	109763769	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catgccgaatacaatcgacaGaaggacatctacctagcaca	7	12	1	1			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr6:109763769G>C	uc003pti.3	+	5	826	c.432G>C	c.(430-432)caG>caC	p.Q144H	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	144					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ACAATCGACAGAAGGACATCT	0.522													4	176					0	0	1	0	0	C	109763769	G	C	109763769	3	2	358	1	0	0	0	0	1	0	0	0	14805	933	33	4	454	4	SMPD2	6	109763769	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		109763769	61351298	6	6028											
PRSS55	203074	broad.mit.edu	37	chr8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaaaaatatgctgtgtgCcggatacaagaatgagagct	10	7	0	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr8:10390524C>T	uc003wta.3	+	3	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.A236V|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	236	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.C235G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483													3	76					0	0	1	0	0	T	10390524	C	T	10390524	3	4	358	1	0	0	0	0	1	0	0	0	12634	739	26	2	721	2	PRSS55	8	10390524	Missense_Mutation	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		10390524	135973498	7	6029											
MARCH8	220972	broad.mit.edu	37	chr10	45954618	45954618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtacggtcaatgagcacaTacaaggaccagaccacacat	8	12	1	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:45954618T>C	uc001jch.2	-	6	1606	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	MARCH8_uc001jci.1_Missense_Mutation_p.Y174C|MARCH8_uc001jcj.1_Missense_Mutation_p.Y174C|MARCH8_uc001jck.1_Missense_Mutation_p.Y174C|DL492557_uc001jcf.3_5'Flank|MARCH8_uc001jcg.1_Missense_Mutation_p.Y43C	NM_001002266	NP_659458	Q5T0T0	MARH8_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA.	174						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AATGAGCACATACAAGGACCA	0.552													11	172					0	0	1	0	0	C	45954618	T	C	45954618	3	2	358	1	0	0	0	0	1	0	0	0	9307	1406	49	3	362	3	MARCH8	10	45954618	Missense_Mutation	SNP	T	TCGA-FK-A3SG-01A-11D-A22D-08		45954618	89580129	8	6030											
WDR11	55717	broad.mit.edu	37	chr10	122619684	122619684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctatccacccgccaaAttacattgtgctctggaatg	8	12	1	0			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:122619684A>G	uc021pzt.1	+	3	662	c.416A>G	c.(415-417)aAt>aGt	p.N139S	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	139						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CACCCGCCAAATTACATTGTG	0.428													4	85					0	0	1	0	0	G	122619684	A	G	122619684	3	3	358	1	0	0	0	0	1	0	0	0	17270	101	4	3	430	3	WDR11	10	122619684	Missense_Mutation	SNP	A	TCGA-FK-A3SG-01A-11D-A22D-08	76665066	122619684	12915063	9	6031											
CD6	923	broad.mit.edu	37	chr11	60777117	60777117	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtacacttccgaggggtCtggaacacagtgtgtgacag	15	8	1	1			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:60777117C>T	uc001nqq.3	+	4	1080	c.855C>T	c.(853-855)gtC>gtT	p.V285V	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Silent_p.V285V|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.V285V|CD6_uc001nqt.3_Silent_p.V285V	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	285	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCGAGGGGTCTGGAACACAG	0.652													8	71					0	0	1	0	0	T	60777117	C	T	60777117	2	4	358	1	0	0	0	0	0	0	0	1	3028	900	32	2		2	CD6	11	60777117	Silent	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		60777117	74229399	10	6032											
MARK2	2011	broad.mit.edu	37	chr11	63668346	63668346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactacaaggacccccggcGgacaggtgaggctgtgccgg	16	12	0	2	rs146234903		TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:63668346G>A	uc001nxw.3	+	9	1562	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MARK2_uc001nxv.4_Missense_Mutation_p.R328Q|MARK2_uc001nxx.3_Missense_Mutation_p.R328Q|MARK2_uc001nxy.3_Missense_Mutation_p.R328Q|MARK2_uc001nxz.4_Missense_Mutation_p.R295Q|MARK2_uc009yoy.3_Missense_Mutation_p.R295Q	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	328	UBA.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GACCCCCGGCGGACAGGTGAG	0.547													4	188					0	0	1	0	0	A	63668346	G	A	63668346	3	1	358	1	0	0	0	0	1	0	0	0	9313	1116	39	1	1021	1	MARK2	11	63668346	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08	2891229	63668346	71338170	11	6033											
IGDCC4	57722	broad.mit.edu	37	chr15	65676658	65676658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtcttggagatggaGgtcagggttcccgttagatg	15	8	2	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr15:65676658G>A	uc002aou.1	-	19	3652	c.3442C>T	c.(3442-3444)Ctc>Ttc	p.L1148F	IGDCC4_uc002aot.1_Missense_Mutation_p.L736F	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1148						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGATGGAGGTCAGGGTTC	0.607													3	69					0	0	1	0	0	A	65676658	G	A	65676658	3	1	358	1	0	0	0	0	1	0	0	0	7569	1000	35	2	314	2	IGDCC4	15	65676658	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		65676658	36854734	12	6034											
DECR2	26063	broad.mit.edu	37	chr16	461481	461481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctggcttcctacgtgaCgggggccgtgctggtggccg	16	14	1	1			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr16:461481C>T	uc002chb.3	+	7	888	c.782C>T	c.(781-783)aCg>aTg	p.T261M	DECR2_uc002chc.3_Missense_Mutation_p.T177M|DECR2_uc002chd.3_Missense_Mutation_p.T177M|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	261						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TCCTACGTGACGGGGGCCGTG	0.632													24	62					0	0	1	0	0	T	461481	C	T	461481	3	4	358	1	0	0	0	0	1	0	0	0	4383	536	19	1	812	1	DECR2	16	461481	Missense_Mutation	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		461481	89893272	13	6035											
COL1A1	1277	broad.mit.edu	37	chr17	48276617	48276617	+	Frame_Shift_Del	DEL	G	G	-													ccagggggtccgggaggtccGgggggtccggggggtccggg							TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr17:48276617delG	uc002iqm.3	-	4	567	c.441delC	c.(439-441)cccfs	p.P147fs		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	147					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	cgggaggtccggggggtccgg	0.652			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						2	4	---	---	---	---						-	48276617	G	-	48276617	7	5	358	1	0	1	0	1	0	0	0	0	3677	1103	39	0	4141	0	COL1A1	17	48276617	Frame_Shift_Del	DEL	G	TCGA-FK-A3SG-01A-11D-A22D-08		48276617	32918593	14	6036											
ZNF324B	388569	broad.mit.edu	37	chr19	58966764	58966764	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagaggctcctgctaggctcGcgcagtgaccaggccagcat	14	13	0	2			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr19:58966764G>C	uc002qsv.1	+	3	560	c.453G>C	c.(451-453)tcG>tcC	p.S151S	ZNF324B_uc002qsu.1_Silent_p.S141S|ZNF324B_uc010euq.1_Silent_p.S151S	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGCTAGGCTCGCGCAGTGACC	0.632													40	65					0	0	1	0	0	C	58966764	G	C	58966764	2	2	358	1	0	0	0	0	0	0	0	1	17842	1074	38	4		4	ZNF324B	19	58966764	Silent	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		58966764	162219	15	6037											
RNF128	79589	broad.mit.edu	37	chrX	105970419	105970419	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccgacgggcccggggcGcttaacgcctgtaacccgca	13	18	0	0			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chrX:105970419G>T	uc004eml.3	+	0	526	c.276G>T	c.(274-276)gcG>gcT	p.A92A	RNF128_uc004emk.3_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	92	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGCCCGGGGCGCTTAACGCCT	0.677													6	27					0	0	1	0	0	T	105970419	G	T	105970419	2	4	358	1	0	0	0	0	0	0	0	1	13436	1074	38	4		4	RNF128	23	105970419	Silent	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		105970419	49300141	16	6038											
KLHDC7A	127707	broad.mit.edu	37	chr1	18807491	18807491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatgttccccagaggaGcagaggcccaggactggcat	14	11	0	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:18807491G>A	uc001bax.3	+	0	68	c.16G>A	c.(16-18)Gca>Aca	p.A6T	KLHDC7A_uc009vpg.3_5'Flank	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	6						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGAGGAGCAGAGGCCCA	0.567													17	60					0	0	1	0	0	A	18807491	G	A	18807491	3	1	359	1	0	0	0	0	1	0	0	0	8360	971	34	2	18	2	KLHDC7A	1	18807491	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		18807491	230443130	1	6039											
CCDC19	25790	broad.mit.edu	37	chr1	159863058	159863058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgacctgttggaagcgGcagaagaggagctcaggatg	15	8	1	3			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:159863058G>A	uc001fui.3	-	1	59	c.41C>T	c.(40-42)gCc>gTc	p.A14V	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.A14V	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	14						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTTGGAAGCGGCAGAAGAGGA	0.532													4	163					0	0	1	0	0	A	159863058	G	A	159863058	3	1	359	1	0	0	0	0	1	0	0	0	2795	1203	42	2	1658	2	CCDC19	1	159863058	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	141055567	159863058	89387563	2	6040											
ASTN1	460	broad.mit.edu	37	chr1	176993813	176993813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaggccaatcacacagctGgtgatgctgatcagggtcaa	12	10	3	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:176993813G>A	uc001glc.3	-	5	1388	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	ASTN1_uc001glb.1_Silent_p.T392T|ASTN1_uc001gld.1_Silent_p.T392T|ASTN1_uc009wwx.1_Silent_p.T392T|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	392					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACACAGCTGGTGATGCTGA	0.517													3	59					0	0	1	0	0	A	176993813	G	A	176993813	2	1	359	1	0	0	0	0	0	0	0	1	1064	1335	47	2		2	ASTN1	1	176993813	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	17130755	176993813	72256808	3	6041											
CFH	3075	broad.mit.edu	37	chr1	196715005	196715005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggggacattacttcattCccgttgtcagtatatgctcc	8	10	2	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:196715005C>T	uc001gtj.4	+	20	3609	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1123	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTACTTCATTCCCGTTGTCAG	0.403													11	137					0	0	1	0	0	T	196715005	C	T	196715005	2	4	359	1	0	0	0	0	0	0	0	1	3283	854	30	2		2	CFH	1	196715005	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	19721192	196715005	52535616	4	6042											
VWA3B	200403	broad.mit.edu	37	chr2	98809456	98809456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtctcactcaatgaagaGcaaactggacttggtgaagg	11	9	2	3			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:98809456G>A	uc002syo.3	+	10	1826	c.1562G>A	c.(1561-1563)aGc>aAc	p.S521N	VWA3B_uc010yvh.2_Missense_Mutation_p.S371N|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.S40N|VWA3B_uc002sym.3_Missense_Mutation_p.S521N|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.S178N|VWA3B_uc002syp.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	521	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCAATGAAGAGCAAACTGGAC	0.423													6	140					0	0	1	0	0	A	98809456	G	A	98809456	3	1	359	1	0	0	0	0	1	0	0	0	17238	971	34	2	1600	2	VWA3B	2	98809456	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		98809456	144389917	5	6043											
POTEE	445582	broad.mit.edu	37	chr2	132021599	132021599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgatggactctggtgaCggggtcacccacactgtgcc	13	12	2	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:132021599C>T	uc002tsn.2	+	14	2623	c.2571C>T	c.(2569-2571)gaC>gaT	p.D857D	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.D457D|POTEE_uc002tsl.2_Silent_p.D439D|POTEE_uc010fmy.1_Silent_p.D321D	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	857	Actin-like.						ATP binding										ACTCTGGTGACGGGGTCACCC	0.617													6	234					0	0	1	0	0	T	132021599	C	T	132021599	2	4	359	1	0	0	0	0	0	0	0	1	12264	535	19	1		1	POTEE	2	132021599	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	33212143	132021599	111177774	6	6044											
HOXD12	3238	broad.mit.edu	37	chr2	176965332	176965332	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagattgcggagttggagaaCgaattcctcgtcaacgaatt	11	8	1	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:176965332C>A	uc010zev.1	+	1	657	c.657C>A	c.(655-657)aaC>aaA	p.N219K	HOXD12_uc021vsp.1_3'UTR	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	219						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGTTGGAGAACGAATTCCTCG	0.567													5	27					0	0	1	0	0	A	176965332	C	A	176965332	3	1	359	1	0	0	0	0	1	0	0	0	7321	535	19	4	663	4	HOXD12	2	176965332	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	44943733	176965332	66234041	7	6045											
TNS1	7145	broad.mit.edu	37	chr2	218683463	218683463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactgctctctcccgacgGgaaactccccactgaagtgc	9	16	2	1			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:218683463G>A	uc002vgt.2	-	23	3678	c.3280C>T	c.(3280-3282)Ccg>Tcg	p.P1094S	TNS1_uc002vgr.2_Missense_Mutation_p.P1081S|TNS1_uc002vgs.2_Missense_Mutation_p.P1073S|TNS1_uc010zjv.1_Missense_Mutation_p.P1073S	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1094	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding	p.F1093L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTCCCGACGGGAAACTCCCC	0.622													3	59					0	0	1	0	0	A	218683463	G	A	218683463	3	1	359	1	0	0	0	0	1	0	0	0	16340	1232	43	2	1967	2	TNS1	2	218683463	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	41718131	218683463	24515910	8	6046											
GLB1L	79411	broad.mit.edu	37	chr2	220108253	220108253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagcgtcaggctgagcgGcagcagcagggaacgaaggc	17	10	1	1			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:220108253G>A	uc002vkm.3	-	1	282	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S	GLB1L_uc010zkx.2_Missense_Mutation_p.P15S|GLB1L_uc002vkn.3_Missense_Mutation_p.P15S|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	15					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTGAGCGGCAGCAGCAGG	0.612													3	100					0	0	1	0	0	A	220108253	G	A	220108253	3	1	359	1	0	0	0	0	1	0	0	0	6428	1203	42	2	1985	2	GLB1L	2	220108253	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	1424790	220108253	23091120	9	6047											
PCDHAC2	56134	broad.mit.edu	37	chr5	140188524	140188524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagctggtgccatggtcGgtgggtgtgggccacgtggt	20	8	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr5:140188524G>A	uc003lhi.2	+	0	1853	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.S584S|PCDHAC2_uc011daa.2_Silent_p.S584S	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	597					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCATGGTCGGTGGGTGTGG	0.672													4	156					0	0	1	0	0	A	140188524	G	A	140188524	2	1	359	1	0	0	0	0	0	0	0	1	11533	1103	39	1		1	PCDHAC2	5	140188524	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		140188524	40726736	10	6048											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	65					0	0	1	0	0	T	140453136	A	T	140453136	3	4	359	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		140453136	18685527	11	6049											
TDRD7	23424	broad.mit.edu	37	chr9	100227245	100227245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgggcagttgctggccGtaaatgccgaggaggacgcc	16	9	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:100227245G>A	uc004axj.3	+	7	1789	c.1564G>A	c.(1564-1566)Gta>Ata	p.V522I	TDRD7_uc011lux.2_Missense_Mutation_p.V448I	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	522	Tudor 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTTGCTGGCCGTAAATGCCGA	0.448													3	64					0	0	1	0	0	A	100227245	G	A	100227245	3	1	359	1	0	0	0	0	1	0	0	0	15732	1145	40	1	1590	1	TDRD7	9	100227245	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		100227245	40986186	12	6050											
COL5A1	1289	broad.mit.edu	37	chr9	137716627	137716627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagattgagcagatgaaacGgcccctgggcacgcagcaga	15	10	0	5			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:137716627G>A	uc004cfe.3	+	61	5262	c.4880G>A	c.(4879-4881)cGg>cAg	p.R1627Q	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1627	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGATGAAACGGCCCCTGGGC	0.637													4	52					0	0	1	0	0	A	137716627	G	A	137716627	3	1	359	1	0	0	0	0	1	0	0	0	3696	1116	39	1	5126	1	COL5A1	9	137716627	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	37489382	137716627	3496804	13	6051											
RET	5979	broad.mit.edu	37	chr10	43606831	43606831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcccaagtgtgccgaActtcactacatggtggtggc	14	12	1	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:43606831A>G	uc001jal.3	+	6	1630	c.1440A>G	c.(1438-1440)gaA>gaG	p.E480E	RET_uc001jak.1_Silent_p.E480E|RET_uc010qez.1_Silent_p.E226E	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	480					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGTGTGCCGAACTTCACTACA	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				26	61					0	0	1	0	0	G	43606831	A	G	43606831	2	3	359	1	0	0	0	0	0	0	0	1	13235	40	2	3		3	RET	10	43606831	Silent	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		43606831	91927916	14	6052											
ERCC6	2074	broad.mit.edu	37	chr10	50723850	50723850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttcagtttctgggaGtaacgactgacaagacacag	9	8	3	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:50723850G>A	uc009xoe.3	-	5	2869	c.2715C>T	c.(2713-2715)taC>taT	p.Y905Y	ERCC6_uc001jhs.4_Intron|ERCC6_uc001jht.3_Silent_p.Y437Y|ERCC6_uc001jhu.3_Silent_p.Y905Y|ERCC6_uc021pqe.1_Silent_p.Y437Y	NM_170753	NP_736609	Q03468	ERCC6_HUMAN	Homo sapiens piggyBac transposable element derived 3 (PGBD3), mRNA.	1331	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTTTCTGGGAGTAACGACTGA	0.438								Direct reversal of damage;Nucleotide excision repair (NER)					4	198					0	0	1	0	0	A	50723850	G	A	50723850	2	1	359	1	0	0	0	0	0	0	0	1	5217	1024	36	2		2	ERCC6	10	50723850	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	7117019	50723850	84810897	15	6053											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058872	81058872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggtgctggagcccttcCgcctggagcacaacctggcg	15	14	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:81058872C>T	uc001kaf.2	+	15	2304	c.1732C>T	c.(1732-1734)Cgc>Tgc	p.R578C	ZMIZ1_uc001kag.2_Missense_Mutation_p.R454C	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	578					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGAGCCCTTCCGCCTGGAGCA	0.662													4	68					0	0	1	0	0	T	81058872	C	T	81058872	3	4	359	1	0	0	0	0	1	0	0	0	17693	652	23	1	1778	1	ZMIZ1	10	81058872	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	30335022	81058872	54475875	16	6054											
TACC2	10579	broad.mit.edu	37	chr10	123846133	123846133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggagagacagagggcaGcatggagaggatgggagagc	20	5	0	4	rs149524584	byFrequency	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:123846133G>A	uc001lfv.3	+	3	4478	c.4118G>A	c.(4117-4119)aGc>aAc	p.S1373N	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.S1373N|TACC2_uc010qtv.2_Missense_Mutation_p.S1373N	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1373						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGAGGGCAGCATGGAGAGG	0.607													3	78					0	0	1	0	0	A	123846133	G	A	123846133	3	1	359	1	0	0	0	0	1	0	0	0	15499	971	34	2	4128	2	TACC2	10	123846133	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	42787261	123846133	11688614	17	6055											
C2CD3	26005	broad.mit.edu	37	chr11	73759286	73759286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaagctcctttgaggagGcatgagcaagttggtctagg	13	7	2	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:73759286G>A	uc001ouu.2	-	27	5686	c.5459C>T	c.(5458-5460)gCc>gTc	p.A1820V	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1820						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTTGAGGAGGCATGAGCAAG	0.473													6	20					0	0	1	0	0	A	73759286	G	A	73759286	3	1	359	1	0	0	0	0	1	0	0	0	2154	1203	42	2	448	2	C2CD3	11	73759286	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		73759286	61247230	18	6056											
SLCO2B1	11309	broad.mit.edu	37	chr11	74911324	74911324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaccccgtgctggcaggatCctgcgactcaacgtgcagcc	11	16	1	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:74911324C>A	uc001owb.3	+	10	2050	c.1655C>A	c.(1654-1656)tCc>tAc	p.S552Y	SLCO2B1_uc010rrq.2_Missense_Mutation_p.S297Y|SLCO2B1_uc010rrr.2_Missense_Mutation_p.S408Y|SLCO2B1_uc010rrs.2_Missense_Mutation_p.S436Y|SLCO2B1_uc001owc.3_Missense_Mutation_p.S325Y|SLCO2B1_uc001owd.3_Missense_Mutation_p.S530Y	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	552					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTGGCAGGATCCTGCGACTCA	0.622													12	218					0	0	1	0	0	A	74911324	C	A	74911324	3	1	359	1	0	0	0	0	1	0	0	0	14727	855	30	4	1697	4	SLCO2B1	11	74911324	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	1152038	74911324	60095192	19	6057											
USP2	9099	broad.mit.edu	37	chr11	119244101	119244101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccataggaggacggggtGtaggcaccatagcccgactt	14	12	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:119244101G>A	uc001pwm.4	-	1	385	c.90C>T	c.(88-90)taC>taT	p.Y30Y	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	30	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGGACGGGGTGTAGGCACCAT	0.602													4	63					0	0	1	0	0	A	119244101	G	A	119244101	2	1	359	1	0	0	0	0	0	0	0	1	17048	1372	48	2		2	USP2	11	119244101	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	44332777	119244101	15762415	20	6058											
VDR	7421	broad.mit.edu	37	chr12	48240527	48240527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggactcattggagcGcaacatgatgacctcaatgg	13	8	2	3			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:48240527G>A	uc001rql.3	-	7	1371	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	VDR_uc001rqm.3_Missense_Mutation_p.R274C|VDR_uc001rqn.3_Missense_Mutation_p.R274C|VDR_uc010slq.2_Missense_Mutation_p.R242C	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	274	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTGGAGCGCAACATGATG	0.542													3	79					0	0	1	0	0	A	48240527	G	A	48240527	3	1	359	1	0	0	0	0	1	0	0	0	17146	1087	38	1	475	1	VDR	12	48240527	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		48240527	85611368	21	6059											
C12orf10	60314	broad.mit.edu	37	chr12	53700517	53700517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcatgtccctggaaGgagcatctctaccacctgga	11	11	1	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:53700517G>A	uc001scp.4	+	5	871	c.819G>A	c.(817-819)aaG>aaA	p.K273K	C12orf10_uc009zmx.3_Silent_p.K222K|C12orf10_uc001scq.4_Silent_p.K158K	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	Homo sapiens chromosome 12 open reading frame 10 (C12orf10), mRNA.	273								p.W272R(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTCCCTGGAAGGAGCATCTCT	0.532													3	145					0	0	1	0	0	A	53700517	G	A	53700517	2	1	359	1	0	0	0	0	0	0	0	1	1674	991	35	2		2	C12orf10	12	53700517	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	5459990	53700517	80151378	22	6060											
STAT2	6773	broad.mit.edu	37	chr12	56748323	56748323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgctgctgggccttccactCctccaactttggcagcagta	9	14	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:56748323C>T	uc001slc.3	-	7	912	c.709G>A	c.(709-711)Gag>Aag	p.E237K	STAT2_uc001sld.3_Missense_Mutation_p.E233K|STAT2_uc010sqn.2_Missense_Mutation_p.E233K	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	237					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GCCTTCCACTCCTCCAACTTT	0.542													7	127					0	0	1	0	0	T	56748323	C	T	56748323	3	4	359	1	0	0	0	0	1	0	0	0	15264	864	30	2	1914	2	STAT2	12	56748323	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	3047806	56748323	77103572	23	6061											
SERPINE3	647174	broad.mit.edu	37	chr13	51915275	51915275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctttcactcttgctgcctCcgagcaaatggccacctccg	7	17	3	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr13:51915275C>T	uc001vfh.2	+	0	108	c.48C>T	c.(46-48)ctC>ctT	p.L16L	SERPINE3_uc010tgp.2_Silent_p.L16L	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	16					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CTTGCTGCCTCCGAGCAAATG	0.542													22	75					0	0	1	0	0	T	51915275	C	T	51915275	2	4	359	1	0	0	0	0	0	0	0	1	14113	842	30	2		2	SERPINE3	13	51915275	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08		51915275	63254603	24	6062											
SLC28A1	9154	broad.mit.edu	37	chr15	85461766	85461766	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccggcaggttctgcccatCattgtctttttcagctgtgt	9	12	4	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr15:85461766C>T	uc002blg.3	+	9	1009	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC28A1_uc010upd.1_Silent_p.I191I|SLC28A1_uc010bnb.3_Silent_p.I269I|SLC28A1_uc010upe.2_Silent_p.I269I|SLC28A1_uc010upf.1_Silent_p.I269I|SLC28A1_uc010upg.1_Silent_p.I269I	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	269					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCTGCCCATCATTGTCTTTT	0.597													5	150					0	0	1	0	0	T	85461766	C	T	85461766	2	4	359	1	0	0	0	0	0	0	0	1	14531	816	29	2		2	SLC28A1	15	85461766	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08		85461766	17069626	25	6063											
CREB3L3	84699	broad.mit.edu	37	chr19	4171092	4171092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgtctctctaaggtccCtcttggagcaactgaagaaa	9	11	3	2			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr19:4171092C>A	uc002lzl.3	+	7	1011	c.895C>A	c.(895-897)Ctc>Atc	p.L299I	CREB3L3_uc002lzm.3_Missense_Mutation_p.L289I|CREB3L3_uc010xib.2_Missense_Mutation_p.L288I|CREB3L3_uc010xic.2_Missense_Mutation_p.P254H	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	299	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTAAGGTCCCTCTTGGAGCA	0.602													3	73					0	0	1	0	0	A	4171092	C	A	4171092	3	1	359	1	0	0	0	0	1	0	0	0	3858	681	24	4	925	4	CREB3L3	19	4171092	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08		4171092	54957891	26	6064											
DNTTIP1	116092	broad.mit.edu	37	chr20	44420653	44420653	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggcgccatgggagccActggcgacgccgagcagccg	18	15	0	0			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr20:44420653A>T	uc002xpk.3	+	0	78	c.10A>T	c.(10-12)Act>Tct	p.T4S	WFDC3_uc002xpf.1_5'Flank|WFDC3_uc002xpj.1_5'Flank|WFDC3_uc002xph.1_5'Flank|WFDC3_uc010ghh.1_5'Flank	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	4						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CATGGGAGCCACTGGCGACGC	0.741													5	3					0	0	1	0	0	T	44420653	A	T	44420653	3	4	359	1	0	0	0	0	1	0	0	0	4681	159	6	5	12	5	DNTTIP1	20	44420653	Missense_Mutation	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		44420653	18604867	27	6065											
NHSL2	340527	broad.mit.edu	37	chrX	71360504	71360504	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggctgcctctcagccccAtcatcaccctggaggaagac	9	16	3	1			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:71360504A>C	uc011mqa.2	+	5	3106	c.3106A>C	c.(3106-3108)Atc>Ctc	p.I1036L	NHSL2_uc004eak.1_Missense_Mutation_p.I670L|NHSL2_uc010nli.2_Missense_Mutation_p.I805L	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	1036								p.I667V(1)|p.I1036V(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCTCAGCCCCATCATCACCCT	0.557													8	75					0	0	1	0	0	C	71360504	A	C	71360504	3	2	359	1	0	0	0	0	1	0	0	0	10412	217	8	5	3128	5	NHSL2	23	71360504	Missense_Mutation	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		71360504	83910056	28	6066											
BTK	695	broad.mit.edu	37	chrX	100630267	100630267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctctccagaatcactgcGgccatagcttcttctttctg	7	13	5	1			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:100630267G>A	uc010nno.2	-	1	341	c.108C>T	c.(106-108)gcC>gcT	p.A36A	BTK_uc004ehg.2_Silent_p.A2A|BTK_uc010nnn.2_Silent_p.A2A|BTK_uc004ehi.3_Silent_p.A2A	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	2	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.H35N(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAATCACTGCGGCCATAGCTT	0.468									Agammaglobulinemia, X-linked				9	111					0	0	1	0	0	A	100630267	G	A	100630267	2	1	359	1	0	0	0	0	0	0	0	1	1557	1103	39	1		1	BTK	23	100630267	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	29269763	100630267	54640293	29	6067											
BCORL1	63035	broad.mit.edu	37	chrX	129148839	129148839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagatcgtgaggaatggGgacccgagcacctgggtgaa	16	10	0	3			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:129148839G>A	uc022cdu.1	+	2	2135	c.2091G>A	c.(2089-2091)ggG>ggA	p.G697G	BCORL1_uc010nrd.1_Silent_p.G599G	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	697					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGGAATGGGGACCCGAGCA	0.607													3	121					0	0	1	0	0	A	129148839	G	A	129148839	2	1	359	1	0	0	0	0	0	0	0	1	1387	1219	43	2		2	BCORL1	23	129148839	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	28518572	129148839	26121721	30	6068											
STK38	11329	broad.mit.edu	37	chr6	36475299	36475299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcactggggaggctgtgGttcagattcctataaaattc	10	7	2	1			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr6:36475299G>A	uc003omg.3	-	6	1338	c.750C>T	c.(748-750)aaC>aaT	p.N250N	STK38_uc003omh.3_Silent_p.N250N|STK38_uc003omi.3_Silent_p.N250N	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	250	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGGCTGTGGTTCAGATTCC	0.418													114	171					0	0	1	0	0	A	36475299	G	A	36475299	2	1	360	1	0	0	0	0	0	0	0	1	15302	1252	44	2		2	STK38	6	36475299	Silent	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		36475299	134639768	1	6069											
DLGAP2	9228	broad.mit.edu	37	chr8	1649537	1649537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagcgcgcggacagcatcGagatctacatccccgaggcc	12	16	1	1			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr8:1649537G>A	uc003wpl.3	+	11	2990	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	DLGAP2_uc003wpm.3_Missense_Mutation_p.E951K	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	1044					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.E973K(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACAGCATCGAGATCTACAT	0.716													4	4					0	0	1	0	0	A	1649537	G	A	1649537	3	1	360	1	0	0	0	0	1	0	0	0	4560	1059	37	1	2935	1	DLGAP2	8	1649537	Missense_Mutation	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		1649537	144714485	2	6070											
HPS1	3257	broad.mit.edu	37	chr10	100189586	100189586	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagttgggcccgtggagtGagggctccaggcctgctgca	16	13	0	1			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr10:100189586G>A	uc021pwv.1	-	8	1075	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	HPS1_uc009xwb.3_Intron|HPS1_uc010qph.1_Missense_Mutation_p.H277Y|HPS1_uc001kpl.3_Missense_Mutation_p.H277Y	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	277					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCGTGGAGTGAGGGCTCCAG	0.677									Hermansky-Pudlak syndrome				7	90					0	0	1	0	0	A	100189586	G	A	100189586	3	1	360	1	0	0	0	0	1	0	0	0	7339	1290	45	2	1359	2	HPS1	10	100189586	Missense_Mutation	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		100189586	35345161	3	6071											
SLC23A2	9962	broad.mit.edu	37	chr20	4839991	4839991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctacaaacatagcagttGtgagaaggacgttcaacact	8	11	1	1			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr20:4839991G>T	uc002wlg.1	-	15	2039	c.1664C>A	c.(1663-1665)aCa>aAa	p.T555K	SLC23A2_uc010zqr.1_Missense_Mutation_p.T440K|SLC23A2_uc002wlh.1_Missense_Mutation_p.T555K	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	555					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CATAGCAGTTGTGAGAAGGAC	0.433													36	85					0	0	1	0	0	T	4839991	G	T	4839991	3	4	360	1	0	0	0	0	1	0	0	0	14463	1377	48	4	296	4	SLC23A2	20	4839991	Missense_Mutation	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		4839991	58185529	4	6072											
ESX1	80712	broad.mit.edu	37	chrX	103498972	103498972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtttgtggcccctccgcCggctgtggcccctccacggt	14	17	0	0			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chrX:103498972C>T	uc004ely.3	-	1	438	c.369G>A	c.(367-369)ccG>ccA	p.P123P		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	123					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCCCCTCCGCCGGCTGTGGCC	0.682													8	50					0	0	1	0	0	T	103498972	C	T	103498972	2	4	360	1	0	0	0	0	0	0	0	1	5263	639	23	1		1	ESX1	23	103498972	Silent	SNP	C	TCGA-FY-A2QD-01A-11D-A19J-08		103498972	51771588	5	6073											
MECP2	4204	broad.mit.edu	37	chrX	153296900	153296900	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaaaggcttttccctgggGactgtggggacaaacagaaa	14	8	0	1	rs61748382		TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chrX:153296900G>A	uc004fjw.2	-	3	480	c.414_splice	c.e3-1	p.N138_splice	MECP2_uc004fjv.2_Splice_Site_p.N126_splice	NM_001110792	NP_001104262	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 2, mRNA.	126	MBD.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCTGGGGACTGTGGGGA	0.488													8	73					0	0	1	0	0	A	153296900	G	A	153296900	5	1	360	1	0	0	0	0	0	0	1	0	9423	1188	41	2	1085	2	MECP2	23	153296900	Splice_Site	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08	49797928	153296900	1973660	6	6074											
RXFP1	59350	broad.mit.edu	37	chr4	159568291	159568291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaatggagtatgcttccCtcttcattcagaagatacag	7	11	3	2			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr4:159568291C>T	uc011cje.2	+	15	2038	c.1775C>T	c.(1774-1776)cCt>cTt	p.P592L	RXFP1_uc010iqk.3_Missense_Mutation_p.P433L|RXFP1_uc011cja.2_Missense_Mutation_p.P460L|RXFP1_uc010iqo.3_Missense_Mutation_p.P517L|RXFP1_uc011cjb.2_Missense_Mutation_p.P463L|RXFP1_uc011cjc.2_Missense_Mutation_p.P484L|RXFP1_uc011cjd.2_Missense_Mutation_p.P484L|RXFP1_uc010iql.3_Missense_Mutation_p.P409L|RXFP1_uc003ipz.3_Missense_Mutation_p.P565L|RXFP1_uc010iqm.3_Missense_Mutation_p.P532L|RXFP1_uc011cjf.2_Missense_Mutation_p.P434L|RXFP1_uc010iqn.3_Missense_Mutation_p.P510L	NM_001253727	NP_001240656	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 2, mRNA.	565						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTATGCTTCCCTCTTCATTCA	0.333													30	36					0	0	1	0	0	T	159568291	C	T	159568291	3	4	361	1	0	0	0	0	1	0	0	0	13759	681	24	2	1756	2	RXFP1	4	159568291	Missense_Mutation	SNP	C	TCGA-FY-A3BL-01A-11D-A19J-08		159568291	31585985	1	6075											
TBCC	6903	broad.mit.edu	37	chr6	42713803	42713803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcggagcaactgacGgactccatattggcttcaag	12	11	1	1			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr6:42713803G>A	uc003osl.3	-	0	82	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_003192	NP_003183	Q15814	TBCC_HUMAN	Homo sapiens tubulin folding cofactor C (TBCC), mRNA.	3					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	GTPase activity|chaperone binding	p.S3S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617													6	52					0	0	1	0	0	A	42713803	G	A	42713803	2	1	361	1	0	0	0	0	0	0	0	1	15628	1103	39	1		1	TBCC	6	42713803	Silent	SNP	G	TCGA-FY-A3BL-01A-11D-A19J-08		42713803	128401264	2	6076											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				29	38					0	0	1	0	0	T	140453136	A	T	140453136	3	4	361	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3BL-01A-11D-A19J-08		140453136	18685527	3	6077											
ZW10	9183	broad.mit.edu	37	chr11	113644351	113644351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctccttttccagcctcCcggagtgtgccaaaacttct	7	15	1	0			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr11:113644351C>T	uc001poe.3	-	0	135	c.38G>A	c.(37-39)gGg>gAg	p.G13E	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	13	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTCCAGCCTCCCGGAGTGTGC	0.642													23	43					0	0	1	0	0	T	113644351	C	T	113644351	3	4	361	1	0	0	0	0	1	0	0	0	18244	623	22	2	2365	2	ZW10	11	113644351	Missense_Mutation	SNP	C	TCGA-FY-A3BL-01A-11D-A19J-08		113644351	21362165	4	6078											
MLL	4297	broad.mit.edu	37	chr11	118375798	118375798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcccgtctcagatttccaAtgcagctgtccagaccactc	8	15	1	2			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr11:118375798A>G	uc001ptb.3	+	26	9214	c.9191A>G	c.(9190-9192)aAt>aGt	p.N3064S	MLL_uc001pta.3_Missense_Mutation_p.N3061S	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.	3061					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGATTTCCAATGCAGCTGTC	0.502			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								31	126					0	0	1	0	0	G	118375798	A	G	118375798	3	3	361	1	0	0	0	0	1	0	0	0	9620	101	4	3	9288	3	MLL	11	118375798	Missense_Mutation	SNP	A	TCGA-FY-A3BL-01A-11D-A19J-08	4731447	118375798	16630718	5	6079											
C12orf66	144577	broad.mit.edu	37	chr12	64615867	64615867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccagcagcgacagccAgctgccccccgcgctcttgt	12	19	1	0			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr12:64615867A>G	uc001srw.4	-	0	210	c.151T>C	c.(151-153)Tgg>Cgg	p.W51R	BC042855_uc001srx.3_5'Flank	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.	51										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGCGACAGCCAGCTGCCCCCC	0.622													3	21					0	0	1	0	0	G	64615867	A	G	64615867	3	3	361	1	0	0	0	0	1	0	0	0	1709	188	7	3	1198	3	C12orf66	12	64615867	Missense_Mutation	SNP	A	TCGA-FY-A3BL-01A-11D-A19J-08		64615867	69236028	6	6080											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	8	21	0	0			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr4:3443797C>G	uc010icw.3	+	0	72	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_uc003ghc.3_Silent_p.L23L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													3	38					0	0	1	0	0	G	3443797	C	G	3443797	2	3	362	1	0	0	0	0	0	0	0	1	7086	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-FY-A3I4-01A-11D-A21A-08		3443797	187710479	1	6081											
ZNF92	168374	broad.mit.edu	37	chr7	64853813	64853813	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatggtagacaaaaccccAggtaggtgacagttaataca	11	7	0	3			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr7:64853813A>G	uc003ttz.3	+	3	369	c.226_splice	c.e3+1	p.V76_splice	ZNF92_uc003tua.3_Splice_Site_p.V7_splice|ZNF92_uc010kzu.3_Intron|ZNF92_uc003tub.3_Intron	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	76						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ACAAAACCCCAGGTAGGTGAC	0.448													3	73					0	0	1	0	0	G	64853813	A	G	64853813	5	3	362	1	0	0	0	0	0	0	1	0	18198	202	7	3	235	3	ZNF92	7	64853813	Splice_Site	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08		64853813	94284850	2	6082											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	61					0	0	1	0	0	T	140453136	A	T	140453136	3	4	362	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08	75599323	140453136	18685527	3	6083											
NUP214	8021	broad.mit.edu	37	chr9	134072930	134072930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattctacaaaaccaaccaAtaaggcttcatccacaagcc	4	13	2	1			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr9:134072930A>G	uc004cag.3	+	28	4160	c.4049A>G	c.(4048-4050)aAt>aGt	p.N1350S	NUP214_uc004cah.3_Missense_Mutation_p.N1340S|NUP214_uc004cai.3_Missense_Mutation_p.N780S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.N176S|NUP214_uc011mcf.1_Missense_Mutation_p.N127S|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1350	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAACCAACCAATAAGGCTTCA	0.512			T	"DEK, SET, ABL1"	"AML, T-ALL"								13	103					0	0	1	0	0	G	134072930	A	G	134072930	3	3	362	1	0	0	0	0	1	0	0	0	10762	101	4	3	4163	3	NUP214	9	134072930	Missense_Mutation	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08		134072930	7140501	4	6084											
NAT10	55226	broad.mit.edu	37	chr11	34149080	34149080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgatgaagctgccgccaTccccctccccttggtgaaga	10	14	0	4			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr11:34149080T>C	uc001mvk.3	+	11	1422	c.1178T>C	c.(1177-1179)aTc>aCc	p.I393T	NAT10_uc010ren.2_Missense_Mutation_p.I321T	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	393						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCTGCCGCCATCCCCCTCCCC	0.502													4	177					0	0	1	0	0	C	34149080	T	C	34149080	3	2	362	1	0	0	0	0	1	0	0	0	10174	1435	50	3	1220	3	NAT10	11	34149080	Missense_Mutation	SNP	T	TCGA-FY-A3I4-01A-11D-A21A-08		34149080	100857436	5	6085											
CASC3	22794	broad.mit.edu	37	chr17	38318284	38318284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgtggagaacaaagtGggtaaaaagggccctaagca	14	7	0	1			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr17:38318284G>A	uc010cwt.1	+	4	781	c.486G>A	c.(484-486)gtG>gtA	p.V162V	CASC3_uc010cws.1_Silent_p.V162V|CASC3_uc002hue.3_Silent_p.V162V	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	162	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding	p.V162V(2)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGAACAAAGTGGGTAAAAAGG	0.468													7	40					0	0	1	0	0	A	38318284	G	A	38318284	2	1	362	1	0	0	0	0	0	0	0	1	2661	1335	47	2		2	CASC3	17	38318284	Silent	SNP	G	TCGA-FY-A3I4-01A-11D-A21A-08		38318284	42876926	6	6086											
ZNF578	147660	broad.mit.edu	37	chr19	53014631	53014631	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaagtcatcccttacatgcCatcataggtgtcacactggt	7	12	3	0			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr19:53014631C>G	uc002pzp.4	+	5	1241	c.997C>G	c.(997-999)Cat>Gat	p.H333D		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCTTACATGCCATCATAGGTG	0.428													20	94					0	0	1	0	0	G	53014631	C	G	53014631	3	3	362	1	0	0	0	0	1	0	0	0	18007	594	21	4	1007	4	ZNF578	19	53014631	Missense_Mutation	SNP	C	TCGA-FY-A3I4-01A-11D-A21A-08		53014631	6114352	7	6087											
APOOL	139322	broad.mit.edu	37	chrX	84322155	84322155	+	Frame_Shift_Del	DEL	T	T	-													tccaagtttaagaaaattacTtatcctctgggactggccac							TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chrX:84322155delT	uc004eem.3	+	5	438	c.417delT	c.(415-417)actfs	p.T139fs	APOOL_uc010nmp.3_Intron	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN	Homo sapiens apolipoprotein O-like (APOOL), mRNA.	139						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGAAAATTACTTATCCTCTGG	0.333													2	4	---	---	---	---						-	84322155	T	-	84322155	7	5	362	1	0	1	0	1	0	0	0	0	814	1596	56	0	439	0	APOOL	23	84322155	Frame_Shift_Del	DEL	T	TCGA-FY-A3I4-01A-11D-A21A-08		84322155	70948405	8	6088											
SMARCA1	6594	broad.mit.edu	37	chrX	128649760	128649760	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctctcagtggcccccctttCacatctggtgaaaaaatgca	7	13	4	1			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chrX:128649760C>G	uc011muk.1	-	4	647	c.534G>C	c.(532-534)gtG>gtC	p.V178V	SMARCA1_uc004eun.4_Silent_p.V178V|SMARCA1_uc004eup.4_Silent_p.V178V|SMARCA1_uc011mul.1_Silent_p.V178V|SNORD112_uc022cdt.1_5'Flank	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	178					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GCCCCCCTTTCACATCTGGTG	0.343													15	66					0	0	1	0	0	G	128649760	C	G	128649760	2	3	362	1	0	0	0	0	0	0	0	1	14768	813	29	4		4	SMARCA1	23	128649760	Silent	SNP	C	TCGA-FY-A3I4-01A-11D-A21A-08	44327605	128649760	26620800	9	6089											
GBP2	2634	broad.mit.edu	37	chr1	89579760	89579760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcttcatgaagacttcaAtggcctctctctcactgtcc	6	13	5	2			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr1:89579760A>G	uc001dmz.1	-	6	1359	c.1088T>C	c.(1087-1089)aTt>aCt	p.I363T	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	363					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GAAGACTTCAATGGCCTCTCT	0.493													42	108					0	0	1	0	0	G	89579760	A	G	89579760	3	3	363	1	0	0	0	0	1	0	0	0	6274	101	4	3	707	3	GBP2	1	89579760	Missense_Mutation	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08		89579760	159670861	1	6090											
ROBO2	6092	broad.mit.edu	37	chr3	77623657	77623657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtttttcaggttgatcGccaaccccagtttatccaag	7	11	1	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr3:77623657G>A	uc003dpz.3	+	14	2634	c.1991G>A	c.(1990-1992)cGc>cAc	p.R664H	ROBO2_uc021xat.1_Missense_Mutation_p.R676H|ROBO2_uc003dpy.4_Missense_Mutation_p.R660H|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc011bgk.2_Missense_Mutation_p.R664H	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	660	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGGTTGATCGCCAACCCCAG	0.423													24	48					0	0	1	0	0	A	77623657	G	A	77623657	3	1	363	1	0	0	0	0	1	0	0	0	13514	1087	38	1	2035	1	ROBO2	3	77623657	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		77623657	120398773	2	6091											
ADPRH	141	broad.mit.edu	37	chr3	119305412	119305412	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccttgcagtggggaaaAggactgatggagctgctacc	13	11	0	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr3:119305412A>G	uc003ecs.3	+	3	877	c.579A>G	c.(577-579)aaA>aaG	p.K193K	ADPRH_uc010hqv.3_Silent_p.K193K|ADPRH_uc011bjb.2_Silent_p.K86K|ADPRH_uc003ect.3_Silent_p.K193K	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	193					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGTGGGGAAAAGGACTGATGG	0.512													3	107					0	0	1	0	0	G	119305412	A	G	119305412	2	3	363	1	0	0	0	0	0	0	0	1	331	69	3	3		3	ADPRH	3	119305412	Silent	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08	41681755	119305412	78717018	3	6092											
VDAC1	7416	broad.mit.edu	37	chr5	133311612	133311612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggctgctattccgaagcGcgtgttactgtttcctgctg	11	11	0	0			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr5:133311612G>A	uc003kyp.2	-	6	975	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	VDAC1_uc003kyq.2_Missense_Mutation_p.R218C|VDAC1_uc003kyr.2_Missense_Mutation_p.R218C	NM_003374	NP_003365	P21796	VDAC1_HUMAN	Homo sapiens voltage-dependent anion channel 1 (VDAC1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	218					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	ATTCCGAAGCGCGTGTTACTG	0.522													56	215					0	0	1	0	0	A	133311612	G	A	133311612	3	1	363	1	0	0	0	0	1	0	0	0	17143	1087	38	1	211	1	VDAC1	5	133311612	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		133311612	47603648	4	6093											
AP4M1	9179	broad.mit.edu	37	chr7	99704048	99704048	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcaggagctgagcagcCcagagcagaaggctgagctg	15	10	1	4			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr7:99704048C>A	uc003utb.4	+	13	1256	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T	AP4M1_uc010lgl.1_Missense_Mutation_p.P325T|AP4M1_uc003utd.3_Missense_Mutation_p.P350T|AP4M1_uc011kjh.2_Missense_Mutation_p.P302T|AP4M1_uc003ute.4_Missense_Mutation_p.P125T|AP4M1_uc003utf.4_Missense_Mutation_p.P222T	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	350	MHD.				intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGAGCAGCCCAGAGCAGAA	0.607													3	80					0	0	1	0	0	A	99704048	C	A	99704048	3	1	363	1	0	0	0	0	1	0	0	0	753	623	22	4	1102	4	AP4M1	7	99704048	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		99704048	59434615	5	6094											
HOOK3	84376	broad.mit.edu	37	chr8	42873627	42873627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaggccacgtgcagccgGccacagcaaggtagagaagt	13	13	0	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr8:42873627G>A	uc003xpr.3	+	21	2385	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T		NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.	715	Required for association with Golgi.|Required for interaction with MSR1.				Golgi localization|cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	FHF complex|cis-Golgi network|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CGTGCAGCCGGCCACAGCAAG	0.537			T	RET	papillary thyroid								4	129					0	0	1	0	0	A	42873627	G	A	42873627	3	1	363	1	0	0	0	0	1	0	0	0	7284	1203	42	2	2229	2	HOOK3	8	42873627	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		42873627	103490395	6	6095											
EFCAB1	79645	broad.mit.edu	37	chr8	49643961	49643961	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcacatgcaggatgtttcGaaatgcattacgatccagtc	9	9	1	0			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr8:49643961G>A	uc003xqo.2	-	1	320	c.160C>T	c.(160-162)Cga>Tga	p.R54*	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	54							calcium ion binding	p.R54Q(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGGATGTTTCGAAATGCATTA	0.393													29	88					0	0	1	0	0	A	49643961	G	A	49643961	4	1	363	1	0	0	0	0	0	1	0	0	4933	1066	37	1	495	1	EFCAB1	8	49643961	Nonsense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	6770334	49643961	96720061	7	6096											
GALNT12	79695	broad.mit.edu	37	chr9	101597558	101597558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatggctggtgggctgttTgctgtgagtaagaaatattt	13	4	0	2			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr9:101597558T>C	uc004ayz.3	+	4	945	c.945T>C	c.(943-945)ttT>ttC	p.F315F		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	315	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTGGGCTGTTTGCTGTGAGTA	0.393													75	76					0	0	1	0	0	C	101597558	T	C	101597558	2	2	363	1	0	0	0	0	0	0	0	1	6210	1809	63	3		3	GALNT12	9	101597558	Silent	SNP	T	TCGA-FY-A3I5-01B-11D-A21Z-08		101597558	39615873	8	6097											
ABCA1	19	broad.mit.edu	37	chr9	107562200	107562200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttttgcaggttggcccGgagaatggcattgttgatga	13	8	0	3			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr9:107562200G>A	uc004bcl.3	-	35	5247	c.4843C>T	c.(4843-4845)Cgg>Tgg	p.R1615W		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1615			R -> Q (associated with reduced plasma HDL cholesterol).		Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGTTGGCCCGGAGAATGGCA	0.468													3	121					0	0	1	0	0	A	107562200	G	A	107562200	3	1	363	1	0	0	0	0	1	0	0	0	28	1115	39	1	2002	1	ABCA1	9	107562200	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	5964642	107562200	33651231	9	6098											
ITGA8	8516	broad.mit.edu	37	chr10	15655758	15655758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatctacagtcacaaccGgtcttgctctgcggggagaa	13	11	4	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr10:15655758G>A	uc001ioc.1	-	14	1454	c.1454C>T	c.(1453-1455)cCg>cTg	p.P485L	ITGA8_uc010qcb.1_Missense_Mutation_p.P470L	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	485					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTCACAACCGGTCTTGCTCT	0.463													3	102					0	0	1	0	0	A	15655758	G	A	15655758	3	1	363	1	0	0	0	0	1	0	0	0	7882	1116	39	1	1801	1	ITGA8	10	15655758	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		15655758	119878989	10	6099											
CNNM1	26507	broad.mit.edu	37	chr10	101120670	101120670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtttaagctttcggacaCggagatgcgggtgaagatct	13	7	1	3			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr10:101120670C>T	uc010qpi.2	+	2	2085	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	CNNM1_uc009xwe.3_Missense_Mutation_p.T599M|CNNM1_uc001kpp.4_Missense_Mutation_p.T599M|CNNM1_uc009xwf.3_Missense_Mutation_p.T599M|CNNM1_uc009xwg.3_5'UTR	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	599					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTTTCGGACACGGAGATGCGG	0.542													4	121					0	0	1	0	0	T	101120670	C	T	101120670	3	4	363	1	0	0	0	0	1	0	0	0	3612	536	19	1	1806	1	CNNM1	10	101120670	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08	85464912	101120670	34414077	11	6100											
EFEMP2	30008	broad.mit.edu	37	chr11	65636030	65636030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccctgtgggcagtggcaGgagaaacggcctggctcgtt	15	10	0	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr11:65636030G>A	uc001ofy.4	-	7	1057	c.798C>T	c.(796-798)tcC>tcT	p.S266S	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	266	EGF-like 5; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCAGTGGCAGGAGAAACGGC	0.622													3	64					0	0	1	0	0	A	65636030	G	A	65636030	2	1	363	1	0	0	0	0	0	0	0	1	4942	987	35	2		2	EFEMP2	11	65636030	Silent	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		65636030	69370486	12	6101											
ZW10	9183	broad.mit.edu	37	chr11	113631247	113631247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttagtacctcttccagacgCtgagcaccagtgacatactt	7	12	1	3			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr11:113631247C>A	uc001poe.3	-	3	505	c.408G>T	c.(406-408)caG>caT	p.Q136H	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	136	Interaction with RINT1.				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CTTCCAGACGCTGAGCACCAG	0.323													81	223					0	0	1	0	0	A	113631247	C	A	113631247	3	1	363	1	0	0	0	0	1	0	0	0	18244	796	28	4	1983	4	ZW10	11	113631247	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08	47995217	113631247	21375269	13	6102											
TCHP	84260	broad.mit.edu	37	chr12	110353299	110353299	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgagcagctctcagatgCcctgctgcagcaggaggcgg	16	12	1	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr12:110353299C>G	uc001tpn.3	+	11	1565	c.1412C>G	c.(1411-1413)gCc>gGc	p.A471G	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.A471G	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	471	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CTCTCAGATGCCCTGCTGCAG	0.637													25	21					0	0	1	0	0	G	110353299	C	G	110353299	3	3	363	1	0	0	0	0	1	0	0	0	15699	739	26	4	1454	4	TCHP	12	110353299	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		110353299	23498596	14	6103											
DAAM1	23002	broad.mit.edu	37	chr14	59797945	59797945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagggccgtctgtgcttcaAtcccaggtggaccctcgcct	12	14	2	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr14:59797945A>G	uc001xdz.1	+	13	1704	c.1579A>G	c.(1579-1581)Atc>Gtc	p.I527V	DAAM1_uc001xea.1_Missense_Mutation_p.I527V	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	527					actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGTGCTTCAATCCCAGGTGG	0.502													17	179					0	0	1	0	0	G	59797945	A	G	59797945	3	3	363	1	0	0	0	0	1	0	0	0	4215	101	4	3	1629	3	DAAM1	14	59797945	Missense_Mutation	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08		59797945	47551595	15	6104											
RBL2	5934	broad.mit.edu	37	chr16	53504454	53504454	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaacaactttgcaagtccCtggtcaagtggccattcaac	9	11	2	0			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr16:53504454C>G	uc002ehi.4	+	15	2523	c.2405C>G	c.(2404-2406)cCt>cGt	p.P802R	RBL2_uc002ehj.3_Missense_Mutation_p.P512R|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	802	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTGCAAGTCCCTGGTCAAGTG	0.552													5	105					0	0	1	0	0	G	53504454	C	G	53504454	3	3	363	1	0	0	0	0	1	0	0	0	13110	681	24	4	2467	4	RBL2	16	53504454	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		53504454	36850299	16	6105											
WDR59	79726	broad.mit.edu	37	chr16	74990380	74990380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaataagctcaccgaagccGcaaaatagtgtgcaaagctg	9	9	1	0			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr16:74990380G>A	uc002fdh.1	-	2	335	c.233C>T	c.(232-234)gCg>gTg	p.A78V	WDR59_uc002fdi.3_Missense_Mutation_p.A78V|WDR59_uc021tli.1_Missense_Mutation_p.A57V	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	78										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CACCGAAGCCGCAAAATAGTG	0.488													3	78					0	0	1	0	0	A	74990380	G	A	74990380	3	1	363	1	0	0	0	0	1	0	0	0	17305	1087	38	1	2787	1	WDR59	16	74990380	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	21485926	74990380	15364373	17	6106											
RUNDC1	146923	broad.mit.edu	37	chr17	41141502	41141502	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtcaaagaacagttggttGagcaactgaaaactcagatc	10	7	2	4			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr17:41141502G>T	uc002ici.1	+	2	814	c.802G>T	c.(802-804)Gag>Tag	p.E268*		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	268										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACAGTTGGTTGAGCAACTGAA	0.493													28	85					0	0	1	0	0	T	41141502	G	T	41141502	4	4	363	1	0	0	0	0	0	1	0	0	13742	1291	45	4	812	4	RUNDC1	17	41141502	Nonsense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		41141502	40053708	18	6107											
ZNF521	25925	broad.mit.edu	37	chr18	22805082	22805082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaggttcgagagcacaCgttgcacttgtaattccctt	10	9	0	2			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr18:22805082C>T	uc002kvk.2	-	3	3047	c.2800G>A	c.(2800-2802)Gtg>Atg	p.V934M	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.V934M|ZNF521_uc002kvl.2_Missense_Mutation_p.V714M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	934					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CGAGAGCACACGTTGCACTTG	0.507			T	PAX5	ALL								22	106					0	0	1	0	0	T	22805082	C	T	22805082	3	4	363	1	0	0	0	0	1	0	0	0	17962	536	19	1	1155	1	ZNF521	18	22805082	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		22805082	55272166	19	6108											
DLGAP4	22839	broad.mit.edu	37	chr20	35125295	35125295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaactcgtcggacagcctGgacagcagtacccgaccgcc	11	16	0	0			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr20:35125295G>A	uc002xff.3	+	7	2271	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	DLGAP4_uc010zvp.2_Silent_p.L612L|DLGAP4_uc002xfg.3_5'UTR|DLGAP4_uc002xfh.3_Silent_p.L73L|DLGAP4_uc002xfi.3_5'UTR|DLGAP4_uc002xfj.3_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	612					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGGACAGCCTGGACAGCAGTA	0.632													3	96					0	0	1	0	0	A	35125295	G	A	35125295	2	1	363	1	0	0	0	0	0	0	0	1	4562	1335	47	2		2	DLGAP4	20	35125295	Silent	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		35125295	27900225	20	6109											
DMC1	11144	broad.mit.edu	37	chr22	38951410	38951410	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattccacctcctagtaActtactggaaatagaaagaa	5	9	1	2			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr22:38951410A>G	uc003avz.1	-	5	506	c.331T>C	c.(331-333)Tta>Cta	p.L111L	DMC1_uc011anv.1_Silent_p.L111L|DMC1_uc003awa.1_Silent_p.L111L	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	111					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CCTCCTAGTAACTTACTGGAA	0.303								Homologous recombination					4	106					0	0	1	0	0	G	38951410	A	G	38951410	2	3	363	1	0	0	0	0	0	0	0	1	4579	40	2	3		3	DMC1	22	38951410	Silent	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08		38951410	12353156	21	6110											
GTPBP1	9567	broad.mit.edu	37	chr22	39112749	39112749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggccgaggctttgcccGccagaaactcttccgccaca	9	16	1	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr22:39112749G>A	uc003awg.3	+	3	732	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	193					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	p.R193H(2)|p.R193C(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCTTTGCCCGCCAGAAACTC	0.557													3	55					0	0	1	0	0	A	39112749	G	A	39112749	3	1	363	1	0	0	0	0	1	0	0	0	6878	1087	38	1	592	1	GTPBP1	22	39112749	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	161339	39112749	12191817	22	6111											
PHKA1	5255	broad.mit.edu	37	chrX	71864258	71864258	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atacgagctggttgtactctGatggggtatacctcagcaat	11	8	2	1			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chrX:71864258G>A	uc004eax.4	-	13	1714	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	PHKA1_uc004eay.4_Silent_p.I471I|PHKA1_uc011mqi.2_Silent_p.I471I	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	471					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTTGTACTCTGATGGGGTATA	0.433													18	51					0	0	1	0	0	A	71864258	G	A	71864258	2	1	363	1	0	0	0	0	0	0	0	1	11843	1280	45	2		2	PHKA1	23	71864258	Silent	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		71864258	83406302	23	6112											
C1orf210	149466	broad.mit.edu	37	chr1	43748745	43748745	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgggccaggggccacagcaGacgctgtggggagctccgaa	17	12	0	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:43748745G>A	uc001cit.4	-	2	287	c.53C>T	c.(52-54)tCt>tTt	p.S18F	C1orf210_uc021omn.1_Missense_Mutation_p.S18F	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	18						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCCACAGCAGACGCTGTGGG	0.627													5	21					0	0	1	0	0	A	43748745	G	A	43748745	3	1	364	1	0	0	0	0	1	0	0	0	2029	942	33	2	292	2	C1orf210	1	43748745	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		43748745	205501876	1	6113											
CENPF	1063	broad.mit.edu	37	chr1	214820611	214820611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctgacagtggaattggaGcagaagatccaagtgctaca	11	7	1	3			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:214820611G>A	uc001hkm.3	+	12	7872	c.7698G>A	c.(7696-7698)gaG>gaA	p.E2566E		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2662	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGGAATTGGAGCAGAAGATCC	0.433													3	76					0	0	1	0	0	A	214820611	G	A	214820611	2	1	364	1	0	0	0	0	0	0	0	1	3231	962	34	2		2	CENPF	1	214820611	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	171071866	214820611	34430010	2	6114											
ZNF678	339500	broad.mit.edu	37	chr1	227843206	227843206	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtttttaaacagtgctctCacctaactagccataagaga	6	9	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:227843206C>T	uc021pjy.1	+	3	1596	c.1420C>T	c.(1420-1422)Cac>Tac	p.H474Y	ZNF678_uc001hqw.2_Missense_Mutation_p.H419Y|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	474					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACAGTGCTCTCACCTAACTAG	0.368													3	57					0	0	1	0	0	T	227843206	C	T	227843206	3	4	364	1	0	0	0	0	1	0	0	0	18082	826	29	2	1434	2	ZNF678	1	227843206	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08	13022595	227843206	21407415	3	6115											
DNMT3A	1788	broad.mit.edu	37	chr2	25497865	25497865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcttgctgatgtagtagGggtcccccgcctggaaggtg	16	10	0	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:25497865G>A	uc002rgc.3	-	5	841	c.584C>T	c.(583-585)cCc>cTc	p.P195L	DNMT3A_uc002rgd.3_Missense_Mutation_p.P195L|DNMT3A_uc010eyi.3_Non-coding_Transcript	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	195					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTAGTAGGGGTCCCCCGC	0.701			"Mis, F, N, S"		AML								8	16					0	0	1	0	0	A	25497865	G	A	25497865	3	1	364	1	0	0	0	0	1	0	0	0	4676	1232	43	2	2306	2	DNMT3A	2	25497865	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		25497865	217701508	4	6116											
EVX2	344191	broad.mit.edu	37	chr2	176944986	176944988	+	In_Frame_Del	DEL	CCG	CCG	-													ctcccccggccccggcgcccCcgccgccgccgccaccacca							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:176944986_176944988delCCG	uc010zeu.2	-	2	1464_1466	c.1278_1280delCGG	c.(1276-1281)ggcggg>ggg	p.426_427GG>G		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	426	Poly-Gly.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		Cccggcgcccccgccgccgccgc	0.783													2	4	---	---	---	---						-	176944988	CCG	-	176944986	7	5	364	1	0	1	0	1	0	0	0	0	5295	623	22	0	152	0	EVX2	2	176944986	In_Frame_Del	DEL	CCG	TCGA-FY-A3NM-01A-11D-A21A-08	151447121	176944986	66254387	5	6117											
C3orf19	51244	broad.mit.edu	37	chr3	14706561	14706561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtggactctttggggcGttcccggcgctgtatgagaa	14	9	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr3:14706561G>A	uc003byw.3	+	5	603	c.512G>A	c.(511-513)cGt>cAt	p.R171H	C3orf19_uc010hei.1_Missense_Mutation_p.R171H|C3orf19_uc010hej.3_Missense_Mutation_p.R76H	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA.	171										endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	14						TCTTTGGGGCGTTCCCGGCGC	0.473													4	173					0	0	1	0	0	A	14706561	G	A	14706561	3	1	364	1	0	0	0	0	1	0	0	0	2212	1145	40	1	534	1	C3orf19	3	14706561	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		14706561	183315869	6	6118											
CNGA1	1259	broad.mit.edu	37	chr4	47939187	47939187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgtttttttgttggtccAcaggtagtcaaaccatttaa	7	7	1	0			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:47939187A>G	uc003gxu.3	-	9	1672	c.1531T>C	c.(1531-1533)Tgg>Cgg	p.W511R	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.W442R	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	442					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTGTTGGTCCACAGGTAGTCA	0.328													5	122					0	0	1	0	0	G	47939187	A	G	47939187	3	3	364	1	0	0	0	0	1	0	0	0	3596	159	6	3	752	3	CNGA1	4	47939187	Missense_Mutation	SNP	A	TCGA-FY-A3NM-01A-11D-A21A-08		47939187	143215089	7	6119											
NPFFR2	10886	broad.mit.edu	37	chr4	73013276	73013276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcatttatggtttcttcaAcgagaatttccgccgtggtt	8	9	3	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:73013276A>G	uc003hgg.2	+	3	1414	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	NPFFR2_uc010iig.2_Missense_Mutation_p.N221S|NPFFR2_uc003hgi.2_Missense_Mutation_p.N340S|NPFFR2_uc003hgh.2_Missense_Mutation_p.N337S	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	439					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGTTTCTTCAACGAGAATTTC	0.453													24	65					0	0	1	0	0	G	73013276	A	G	73013276	3	3	364	1	0	0	0	0	1	0	0	0	10578	43	2	3	1336	3	NPFFR2	4	73013276	Missense_Mutation	SNP	A	TCGA-FY-A3NM-01A-11D-A21A-08	25074089	73013276	118141000	8	6120											
SLC26A8	116369	broad.mit.edu	37	chr6	35923195	35923195	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcacttggtcttcggatgCagtttggcttgtgttcatgc	13	8	2	0			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:35923195C>G	uc003olm.3	-	16	2077	c.1966G>C	c.(1966-1968)Gca>Cca	p.A656P	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.A238P|SLC26A8_uc003oll.3_Missense_Mutation_p.A551P|SLC26A8_uc003oln.3_Missense_Mutation_p.A656P	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	656	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCGGATGCAGTTTGGCTT	0.443													49	75					0	0	1	0	0	G	35923195	C	G	35923195	3	3	364	1	0	0	0	0	1	0	0	0	14523	710	25	4	962	4	SLC26A8	6	35923195	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08		35923195	135191872	9	6121											
HEY2	23493	broad.mit.edu	37	chr6	126080274	126080274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttttaggctactttgacGcacacgctcttgccatggac	8	13	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:126080274G>A	uc003qad.3	+	4	531	c.340G>A	c.(340-342)Gca>Aca	p.A114T	HEY2_uc011ebr.2_Missense_Mutation_p.A68T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	114	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding	p.A114P(2)|p.A114T(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CTACTTTGACGCACACGCTCT	0.527													3	74					0	0	1	0	0	A	126080274	G	A	126080274	3	1	364	1	0	0	0	0	1	0	0	0	7079	1087	38	1	358	1	HEY2	6	126080274	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	90157079	126080274	45034793	10	6122											
UBE2W	55284	broad.mit.edu	37	chr8	74717937	74717937	+	Frame_Shift_Del	DEL	A	A	-													cttgttacatgttcgcacatAaaaagaattatccggtggtc							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:74717937delA	uc003xzu.3	-	5	477	c.424delT	c.(424-426)tatfs	p.Y142fs	UBE2W_uc003xzt.2_Frame_Shift_Del_p.Y131fs|UBE2W_uc003xzv.3_Frame_Shift_Del_p.Y131fs|UBE2W_uc003xzw.3_Non-coding_Transcript	NM_001001481	NP_001001481	Q96B02	UBE2W_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2W (putative) (UBE2W), transcript variant 1, mRNA.	131					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			GTTCGCACATAAAAAGAATTA	0.299													2	4	---	---	---	---						-	74717937	A	-	74717937	7	5	364	1	0	1	0	1	0	0	0	0	16874	362	13	0	72	0	UBE2W	8	74717937	Frame_Shift_Del	DEL	A	TCGA-FY-A3NM-01A-11D-A21A-08		74717937	71646085	11	6123											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457580	110457580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctctgggaaacctgactGtcagcagccccccagtagca	11	14	2	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:110457580G>A	uc003yne.3	+	37	5586	c.5482G>A	c.(5482-5484)Gtc>Atc	p.V1828I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1828	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACCTGACTGTCAGCAGCCC	0.493										HNSCC(38;0.096)			4	76					0	0	1	0	0	A	110457580	G	A	110457580	3	1	364	1	0	0	0	0	1	0	0	0	11972	1377	48	2	5632	2	PKHD1L1	8	110457580	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	35739643	110457580	35906442	12	6124											
HSF1	3297	broad.mit.edu	37	chr8	145515453	145515454	+	Frame_Shift_Ins	INS	-	-	GG													ctcgagatggatctgcccgtINSgggccccggcgcggcggggc							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:145515453_145515454insGG	uc003zbt.4	+	0	184_185	c.14_15insGG	c.(13-15)gtgfs	p.V5fs	BOP1_uc003zbr.1_5'Flank|HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	5						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GATCTGCCCGTgggccccggcg	0.728													2	4	---	---	---	---						GG	145515454	-	GG	145515453	7	5	364	1	0	1	1	0	0	0	0	0	7395	1696	59	0	16	0	HSF1	8	145515453	Frame_Shift_Ins	INS	-	TCGA-FY-A3NM-01A-11D-A21A-08	35057873	145515453	848569	13	6125											
CNTLN	54875	broad.mit.edu	37	chr9	17236415	17236415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgttctacaggacactaaGgagtgtgtacagaacaaaga	10	7	1	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr9:17236415G>A	uc003zmz.2	+	4	704	c.678G>A	c.(676-678)aaG>aaA	p.K226K	CNTLN_uc003zmx.4_Silent_p.K226K|CNTLN_uc003zmy.3_Silent_p.K226K|CNTLN_uc010mio.3_5'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	226						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGACACTAAGGAGTGTGTAC	0.368													11	45					0	0	1	0	0	A	17236415	G	A	17236415	2	1	364	1	0	0	0	0	0	0	0	1	3639	991	35	2		2	CNTLN	9	17236415	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		17236415	123977016	14	6126											
GTPBP4	23560	broad.mit.edu	37	chr10	1046805	1046805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagacctctcttcatcaaCaaggtgtgtgtggtcactca	8	11	6	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr10:1046805C>A	uc001ift.3	+	6	914	c.843C>A	c.(841-843)aaC>aaA	p.N281K	GTPBP4_uc010qac.1_Missense_Mutation_p.N72K|GTPBP4_uc010qad.2_Missense_Mutation_p.N165K|GTPBP4_uc010qae.2_Missense_Mutation_p.N234K	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	281					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.I280I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TCTTCATCAACAAGGTGTGTG	0.463													4	202					0	0	1	0	0	A	1046805	C	A	1046805	3	1	364	1	0	0	0	0	1	0	0	0	6882	477	17	4	869	4	GTPBP4	10	1046805	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08		1046805	134487942	15	6127											
SLC26A10	65012	broad.mit.edu	37	chr12	58016597	58016597	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacccctcctccccaacctGgctgagctgcccaggattct	7	19	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr12:58016597G>T	uc001spe.3	+	5	1130	c.819G>T	c.(817-819)ctG>ctT	p.L273L	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	273						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCCCAACCTGGCTGAGCTGC	0.567													6	155					0	0	1	0	0	T	58016597	G	T	58016597	2	4	364	1	0	0	0	0	0	0	0	1	14515	1335	47	4		4	SLC26A10	12	58016597	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		58016597	75835298	16	6128											
GABRB3	2562	broad.mit.edu	37	chr15	26806094	26806094	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctacccggttgctttcgctCtttgaacggtcattctttgc	8	13	3	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:26806094C>G	uc001zbb.3	-	8	1336	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N	GABRB3_uc021sgg.1_Missense_Mutation_p.K284N|GABRB3_uc021sgh.1_Missense_Mutation_p.K270N|GABRB3_uc001zaz.3_Missense_Mutation_p.K355N|GABRB3_uc001zba.3_Missense_Mutation_p.K355N	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	355					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCTTTCGCTCTTTGAACGGT	0.473													3	178					0	0	1	0	0	G	26806094	C	G	26806094	3	3	364	1	0	0	0	0	1	0	0	0	6168	912	32	4	364	4	GABRB3	15	26806094	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08		26806094	75725298	17	6129											
TJP1	7082	broad.mit.edu	37	chr15	30001016	30001016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtcgggcagaacttgTatatggttttggtgtgaatc	13	4	0	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:30001016T>C	uc010azl.3	-	23	4570	c.4561A>G	c.(4561-4563)Aca>Gca	p.T1521A	TJP1_uc001zcq.3_Missense_Mutation_p.T1457A|TJP1_uc001zcr.3_Missense_Mutation_p.T1533A|TJP1_uc001zcs.3_Missense_Mutation_p.T1453A	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1533					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAACTTGTATATGGTTTT	0.403													5	305					0	0	1	0	0	C	30001016	T	C	30001016	3	2	364	1	0	0	0	0	1	0	0	0	15926	1638	57	3	665	3	TJP1	15	30001016	Missense_Mutation	SNP	T	TCGA-FY-A3NM-01A-11D-A21A-08	3194922	30001016	72530376	18	6130											
PLA2G4F	255189	broad.mit.edu	37	chr15	42434347	42434347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgccatagggggtgtctggCctgttgatgacaaagtcccc	13	10	1	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:42434347C>A	uc001zoz.3	-	19	2477	c.2385G>T	c.(2383-2385)agG>agT	p.R795S	PLA2G4F_uc010bcq.3_Missense_Mutation_p.R92S|PLA2G4F_uc001zoy.3_Missense_Mutation_p.R427S|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R546S|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R546S|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R582S	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	795	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGTGTCTGGCCTGTTGATGA	0.567													3	64					0	0	1	0	0	A	42434347	C	A	42434347	3	1	364	1	0	0	0	0	1	0	0	0	12006	738	26	4	168	4	PLA2G4F	15	42434347	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08	12433331	42434347	60097045	19	6131											
DPP8	54878	broad.mit.edu	37	chr15	65739246	65739246	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacttttagagcagcaatAcgtgatccaaggttttcttg	8	8	2	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65739246A>C	uc002aov.3	-	19	4251	c.2673T>G	c.(2671-2673)cgT>cgG	p.R891R	DPP8_uc002aow.3_Silent_p.R891R|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.R875R|DPP8_uc002aox.3_Silent_p.R875R|DPP8_uc002aoy.3_Silent_p.R840R|DPP8_uc002aoz.3_Silent_p.R775R|DPP8_uc010bhj.3_Silent_p.R891R|DPP8_uc010bhi.3_Silent_p.R194R	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	891					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGCAGCAATACGTGATCCAA	0.388													53	61					0	0	1	0	0	C	65739246	A	C	65739246	2	2	364	1	0	0	0	0	0	0	0	1	4732	378	14	5		5	DPP8	15	65739246	Silent	SNP	A	TCGA-FY-A3NM-01A-11D-A21A-08	23304899	65739246	36792146	20	6132											
C15orf44	81556	broad.mit.edu	37	chr15	65877142	65877142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatccagacagtcacaTtctgggcataactgcgtttg	10	9	2	2			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65877142T>C	uc010uix.2	-	9	1701	c.1313A>G	c.(1312-1314)aAt>aGt	p.N438S	C15orf44_uc002apd.3_Missense_Mutation_p.N402S|C15orf44_uc010uja.2_Missense_Mutation_p.N384S|C15orf44_uc010ujb.2_Missense_Mutation_p.N345S|C15orf44_uc002ape.4_Missense_Mutation_p.N402S|C15orf44_uc010uiy.2_Missense_Mutation_p.N323S|C15orf44_uc010uiz.2_Missense_Mutation_p.N366S			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	402										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GACAGTCACATTCTGGGCATA	0.468													14	26					0	0	1	0	0	C	65877142	T	C	65877142	3	2	364	1	0	0	0	0	1	0	0	0	1798	1493	52	3	363	3	C15orf44	15	65877142	Missense_Mutation	SNP	T	TCGA-FY-A3NM-01A-11D-A21A-08	137896	65877142	36654250	21	6133											
CASC3	22794	broad.mit.edu	37	chr17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggcagcatggtggccGgtctggtgagactgttaagc	18	7	1	1	rs139973585		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr17:38319961G>A	uc010cwt.1	+	6	1308	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	CASC3_uc010cws.1_Missense_Mutation_p.R338Q|CASC3_uc002hue.3_Missense_Mutation_p.R338Q	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	338					RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552													4	228					0	0	1	0	0	A	38319961	G	A	38319961	3	1	364	1	0	0	0	0	1	0	0	0	2661	1116	39	1	1039	1	CASC3	17	38319961	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		38319961	42875249	22	6134											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913841	39913841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagaactgttttctgggaGcaatcctgggaaactgggag	15	6	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:39913841G>A	uc010xuz.2	+	17	2472	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N	PLEKHG2_uc010xuy.2_Missense_Mutation_p.S657N|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S494N	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	716					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTTCTGGGAGCAATCCTGGG	0.592													3	88					0	0	1	0	0	A	39913841	G	A	39913841	3	1	364	1	0	0	0	0	1	0	0	0	12069	971	34	2	2213	2	PLEKHG2	19	39913841	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		39913841	19215142	23	6135											
NUMBL	9253	broad.mit.edu	37	chr19	41179384	41179384	+	Frame_Shift_Del	DEL	C	C	-													acggaaggagccctggcgaaCcagctgctccaggggtgcat							TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:41179384delC	uc002oon.3	-	7	1069	c.901delG	c.(901-903)gttfs	p.V301fs	NUMBL_uc010xvq.2_Frame_Shift_Del_p.V260fs|NUMBL_uc010xvr.2_Frame_Shift_Del_p.V260fs|NUMBL_uc002ooo.3_Frame_Shift_Del_p.V300fs	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	301					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CCCTGGCGAACCAGCTGCTCC	0.657													2	4	---	---	---	---						-	41179384	C	-	41179384	7	5	364	1	0	1	0	1	0	0	0	0	10752	507	18	0	940	0	NUMBL	19	41179384	Frame_Shift_Del	DEL	C	TCGA-FY-A3NM-01A-11D-A21A-08	1265543	41179384	17949599	24	6136											
SIRPD	128646	broad.mit.edu	37	chr20	1532407	1532407	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccttttatgaacttcacGcagtaataggtgccagcatc	7	11	1	1			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:1532407G>T	uc002wfi.3	-	1	395	c.351C>A	c.(349-351)tgC>tgA	p.C117*		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	117	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGAACTTCACGCAGTAATAGG	0.493													3	98					0	0	1	0	0	T	1532407	G	T	1532407	4	4	364	1	0	0	0	0	0	1	0	0	14335	1079	38	4	254	4	SIRPD	20	1532407	Nonsense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		1532407	61493113	25	6137											
PTPRU	10076	broad.mit.edu	37	chr1	29586031	29586031	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaacgcgtcgttccagtgCatggccgcgggcagagcggc	16	13	0	2			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr1:29586031C>A	uc001bru.3	+	4	759	c.630C>A	c.(628-630)tgC>tgA	p.C210*	PTPRU_uc009vtq.3_Nonsense_Mutation_p.C210*|PTPRU_uc009vtr.3_Nonsense_Mutation_p.C210*|PTPRU_uc001brw.3_Nonsense_Mutation_p.C210*	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	210	Ig-like C2-type.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGTTCCAGTGCATGGCCGCGG	0.687													3	58					0	0	1	0	0	A	29586031	C	A	29586031	4	1	365	1	0	0	0	0	0	1	0	0	12813	718	25	4	648	4	PTPRU	1	29586031	Nonsense_Mutation	SNP	C	TCGA-FY-A3NN-01A-11D-A21A-08		29586031	219664590	1	6138											
TTC21B	79809	broad.mit.edu	37	chr2	166770121	166770121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcatcaccaaggagaagaAaagaccgagggttagccatt	11	8	1	3			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr2:166770121A>G	uc002udk.3	-	15	2307	c.2174T>C	c.(2173-2175)tTt>tCt	p.F725S		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	725						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAGGAGAAGAAAAGACCGAGG	0.323													18	51					0	0	1	0	0	G	166770121	A	G	166770121	3	3	365	1	0	0	0	0	1	0	0	0	16685	14	1	3	1832	3	TTC21B	2	166770121	Missense_Mutation	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08		166770121	76429252	2	6139											
TLR9	54106	broad.mit.edu	37	chr3	52266070	52266070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcgtccagcagtggcaGcacggccctgtcatagtcct	13	14	1	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr3:52266070G>A	uc003ddd.3	-	2	323	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	TLR9_uc003ddb.3_5'Flank|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGCAGTGGCAGCACGGCCCTG	0.662											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	41					0	0	1	0	0	A	52266070	G	A	52266070	2	1	365	1	0	0	0	0	0	0	0	1	15955	962	34	2		2	TLR9	3	52266070	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		52266070	145756360	3	6140											
DNAH1	25981	broad.mit.edu	37	chr3	52402841	52402841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtacatgttcgatgggccGgtggatgccatctggattga	15	7	1	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr3:52402841G>A	uc011bef.2	+	36	6111	c.5850G>A	c.(5848-5850)ccG>ccA	p.P1950P		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1950	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGATGGGCCGGTGGATGCCA	0.572													4	237					0	0	1	0	0	A	52402841	G	A	52402841	2	1	365	1	0	0	0	0	0	0	0	1	4597	1103	39	1		1	DNAH1	3	52402841	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08	136771	52402841	145619589	4	6141											
MTHFD2L	441024	broad.mit.edu	37	chr4	75147202	75147202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgtaattgatgtggGtatcaactatgtccacgatc	10	8	1	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr4:75147202G>A	uc011cbk.2	+	6	893	c.866G>A	c.(865-867)gGt>gAt	p.G289D	MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	231					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATTGATGTGGGTATCAACTAT	0.368													3	50					0	0	1	0	0	A	75147202	G	A	75147202	3	1	365	1	0	0	0	0	1	0	0	0	9930	1261	44	2	892	2	MTHFD2L	4	75147202	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		75147202	116007074	5	6142											
CDH12	1010	broad.mit.edu	37	chr5	21817055	21817055	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatttgtctatataccTttttcaatttgatgactccc	3	11	2	2			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr5:21817055T>C	uc010iuc.2	-	6	1460	c.1002_splice	c.e6+1	p.K334_splice	CDH12_uc011cno.1_Splice_Site_p.K294_splice|CDH12_uc003jgk.2_Splice_Site_p.K334_splice	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	334	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTATATACCTTTTTCAATTT	0.294										HNSCC(59;0.17)			3	109					0	0	1	0	0	C	21817055	T	C	21817055	5	2	365	1	0	0	0	0	0	0	1	0	3098	1623	56	3	1411	3	CDH12	5	21817055	Splice_Site	SNP	T	TCGA-FY-A3NN-01A-11D-A21A-08		21817055	159098205	6	6143											
COBL	23242	broad.mit.edu	37	chr7	51111289	51111289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcggtcgtgtcctccgaCgcaaaacagctgccaactga	9	15	0	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr7:51111289C>T	uc003tps.3	-	8	1553	c.1368G>A	c.(1366-1368)gcG>gcA	p.A456A	COBL_uc003tpr.4_Silent_p.A399A|COBL_uc011kcl.2_Silent_p.A399A|COBL_uc010kzc.3_Silent_p.A399A|COBL_uc003tpp.4_Silent_p.A185A|COBL_uc003tpq.4_Silent_p.A340A	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	399										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGTCCTCCGACGCAAAACAGC	0.607													5	93					0	0	1	0	0	T	51111289	C	T	51111289	2	4	365	1	0	0	0	0	0	0	0	1	3653	523	19	1		1	COBL	7	51111289	Silent	SNP	C	TCGA-FY-A3NN-01A-11D-A21A-08		51111289	108027374	7	6144											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	60					0	0	1	0	0	T	140453136	A	T	140453136	3	4	365	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08	89341847	140453136	18685527	8	6145											
COL22A1	169044	broad.mit.edu	37	chr8	139658912	139658912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccctggtaggcctggaGgcccagcctctccctgtatc	14	15	1	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr8:139658912G>A	uc003yvd.3	-	46	3908	c.3461C>T	c.(3460-3462)cCt>cTt	p.P1154L	COL22A1_uc011ljo.2_Missense_Mutation_p.P434L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1154	Collagen-like 10.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1154S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TAGGCCTGGAGGCCCAGCCTC	0.493										HNSCC(7;0.00092)			3	5					0	0	1	0	0	A	139658912	G	A	139658912	3	1	365	1	0	0	0	0	1	0	0	0	3681	1000	35	2	1495	2	COL22A1	8	139658912	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		139658912	6705110	9	6146											
ZNF623	9831	broad.mit.edu	37	chr8	144733418	144733418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacactggagaaaagccctAtgtgtgcagttattgtggga	12	7	1	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr8:144733418A>G	uc003yzd.2	+	0	1465	c.1376A>G	c.(1375-1377)tAt>tGt	p.Y459C	ZNF623_uc011lkp.1_Missense_Mutation_p.Y419C|ZNF623_uc003yzc.2_Missense_Mutation_p.Y419C	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAAAGCCCTATGTGTGCAGT	0.443													34	50					0	0	1	0	0	G	144733418	A	G	144733418	3	3	365	1	0	0	0	0	1	0	0	0	18044	449	16	3	1378	3	ZNF623	8	144733418	Missense_Mutation	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08	5074506	144733418	1630604	10	6147											
SLC27A4	10999	broad.mit.edu	37	chr9	131112801	131112801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgtactatggattccGcatgcggcccaacgacatcg	11	13	0	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr9:131112801G>A	uc004but.3	+	5	1109	c.824G>A	c.(823-825)cGc>cAc	p.R275H	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	275					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TATGGATTCCGCATGCGGCCC	0.607													3	36					0	0	1	0	0	A	131112801	G	A	131112801	3	1	365	1	0	0	0	0	1	0	0	0	14528	1087	38	1	842	1	SLC27A4	9	131112801	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		131112801	10100630	11	6148											
FGF3	2248	broad.mit.edu	37	chr11	69625427	69625427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtattatagcccagctcGtggatccgctccacaaactc	7	14	0	0			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr11:69625427G>A	uc001oph.3	-	2	857	c.366C>T	c.(364-366)caC>caT	p.H122H		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	122					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.H122Q(2)|p.H122N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCCCAGCTCGTGGATCCGCT	0.647													7	174					0	0	1	0	0	A	69625427	G	A	69625427	2	1	365	1	0	0	0	0	0	0	0	1	5853	1136	40	1		1	FGF3	11	69625427	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		69625427	65381089	12	6149											
F10	2159	broad.mit.edu	37	chr13	113803259	113803259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggagcaggaggagggcGgtgaggcggtgcacgaggtg	22	7	0	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr13:113803259G>A	uc001vsx.3	+	7	952	c.895G>A	c.(895-897)Ggt>Agt	p.G299S	F10_uc001vsy.3_Silent_p.A295A	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	299	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGGAGGGCGGTGAGGCGGT	0.602													6	321					0	0	1	0	0	A	113803259	G	A	113803259	3	1	365	1	0	0	0	0	1	0	0	0	5336	1116	39	1	925	1	F10	13	113803259	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		113803259	1366619	13	6150											
STON2	85439	broad.mit.edu	37	chr14	81743303	81743303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagttgaaggcatgctcGtacttggcagttcccagagt	13	8	0	2			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr14:81743303G>A	uc001xvk.1	-	5	2765	c.2352C>T	c.(2350-2352)taC>taT	p.Y784Y	STON2_uc010tvu.2_Silent_p.Y784Y|STON2_uc010tvt.2_Silent_p.Y581Y	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	784	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGCATGCTCGTACTTGGCAG	0.493													5	166					0	0	1	0	0	A	81743303	G	A	81743303	2	1	365	1	0	0	0	0	0	0	0	1	15317	1140	40	1		1	STON2	14	81743303	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		81743303	25606237	14	6151											
ITGAM	3684	broad.mit.edu	37	chr16	31336828	31336828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccttccagaaccagcGctcacagcgatcctggcgcc	9	19	1	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr16:31336828G>A	uc002ebr.3	+	20	2614	c.2516G>A	c.(2515-2517)cGc>cAc	p.R839H	ITGAM_uc002ebq.3_Missense_Mutation_p.R838H|ITGAM_uc010can.3_Missense_Mutation_p.R244H|ITGAM_uc002ebs.1_Missense_Mutation_p.R244H	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	838					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGAACCAGCGCTCACAGCGA	0.602													36	48					0	0	1	0	0	A	31336828	G	A	31336828	3	1	365	1	0	0	0	0	1	0	0	0	7887	1087	38	1	2598	1	ITGAM	16	31336828	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		31336828	59017925	15	6152											
KRT33A	3883	broad.mit.edu	37	chr17	39504836	39504836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatccaggatcctgcGcaggccattgatgtccgact	10	14	1	1			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr17:39504836G>A	uc002hwk.1	-	2	524	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	163	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGATCCTGCGCAGGCCATTG	0.607													4	170					0	0	1	0	0	A	39504836	G	A	39504836	3	1	365	1	0	0	0	0	1	0	0	0	8469	1087	38	1	747	1	KRT33A	17	39504836	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		39504836	41690374	16	6153											
PPM1D	8493	broad.mit.edu	37	chr17	58740503	58740503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtagtcataccctcaaaaGatccagaaccacttgaagaa	7	10	2	4			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr17:58740503G>A	uc002iyt.2	+	5	1640	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	470					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCCTCAAAAGATCCAGAACC	0.423											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	3	59					0	0	1	0	0	A	58740503	G	A	58740503	3	1	365	1	0	0	0	0	1	0	0	0	12337	942	33	2	1430	2	PPM1D	17	58740503	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08	19235667	58740503	22454707	17	6154											
ZNF493	284443	broad.mit.edu	37	chr19	21606565	21606565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccttactacacataaAagaattcatactggagagaa	5	9	2	2			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr19:21606565A>G	uc002npw.3	+	3	1223	c.1104A>G	c.(1102-1104)aaA>aaG	p.K368K	ZNF493_uc002npx.3_Silent_p.K240K|ZNF493_uc002npy.3_Silent_p.K240K|ZNF493_uc021urq.1_Silent_p.K240K	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTACACATAAAAGAATTCATA	0.358													3	73					0	0	1	0	0	G	21606565	A	G	21606565	2	3	365	1	0	0	0	0	0	0	0	1	17941	11	1	3		3	ZNF493	19	21606565	Silent	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08		21606565	37522418	18	6155											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			39	71					0	0	1	0	0	C	115256529	T	C	115256529	3	2	366	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-FY-A3NP-01A-11D-A21A-08		115256529	133994092	1	6156											
ATP1A2	477	broad.mit.edu	37	chr1	160106465	160106465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgactgggatgaccGgaccatgaatgatctggagg	14	11	1	3			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr1:160106465G>A	uc001fvc.3	+	18	2801	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R609Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	890					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGATGACCGGACCATGAAT	0.552													3	61					0	0	1	0	0	A	160106465	G	A	160106465	3	1	366	1	0	0	0	0	1	0	0	0	1129	1116	39	1	2743	1	ATP1A2	1	160106465	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	44849936	160106465	89144156	2	6157											
KCNH7	90134	broad.mit.edu	37	chr2	163302758	163302758	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagaatagccacattctcGtcttttctgttcttctctgt	5	11	5	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr2:163302758G>A	uc002uch.2	-	6	1553	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	KCNH7_uc002uci.3_Nonsense_Mutation_p.R435*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	442					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R442*(2)|p.R442Q(1)|p.R442P(1)|p.R435*(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCACATTCTCGTCTTTTCTGT	0.383													15	16					0	0	1	0	0	A	163302758	G	A	163302758	4	1	366	1	0	0	0	0	0	1	0	0	8037	1153	40	1	2372	1	KCNH7	2	163302758	Nonsense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		163302758	79896615	3	6158											
LETM1	3954	broad.mit.edu	37	chr4	1843468	1843468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaacagccgaggtgatcgCctctggaggatgtgtacaca	12	12	1	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr4:1843468C>A	uc003gdv.3	-	2	497	c.200G>T	c.(199-201)gGc>gTc	p.G67V	LETM1_uc010icc.3_5'Flank|LETM1_uc011bvg.2_Missense_Mutation_p.G67V	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	67					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GAGGTGATCGCCTCTGGAGGA	0.552													7	26					0	0	1	0	0	A	1843468	C	A	1843468	3	1	366	1	0	0	0	0	1	0	0	0	8734	739	26	4	2067	4	LETM1	4	1843468	Missense_Mutation	SNP	C	TCGA-FY-A3NP-01A-11D-A21A-08		1843468	189310808	4	6159											
ENPEP	2028	broad.mit.edu	37	chr4	111398204	111398204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccacctacacggagaacGgacaagtcaagtaaatatta	8	9	1	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr4:111398204G>A	uc003iab.4	+	0	976	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	212					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CACGGAGAACGGACAAGTCAA	0.453													7	32					0	0	1	0	0	A	111398204	G	A	111398204	3	1	366	1	0	0	0	0	1	0	0	0	5128	1117	39	1	636	1	ENPEP	4	111398204	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	109554736	111398204	79756072	5	6160											
PLXNC1	10154	broad.mit.edu	37	chr12	94641772	94641772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcactgtgaagctgagaGtacaagacacctacttggat	10	8	1	3			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr12:94641772G>A	uc001tdc.3	+	12	2731	c.2482G>A	c.(2482-2484)Gta>Ata	p.V828I		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	828					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAAGCTGAGAGTACAAGACAC	0.507													3	38					0	0	1	0	0	A	94641772	G	A	94641772	3	1	366	1	0	0	0	0	1	0	0	0	12126	1029	36	2	2532	2	PLXNC1	12	94641772	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		94641772	39210123	6	6161											
OAS3	4940	broad.mit.edu	37	chr12	113403801	113403801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatgctggaccagagtgtgGactttgatgtgctgccagcc	14	10	0	2			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr12:113403801G>A	uc001tug.3	+	11	2743	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	886	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCAGAGTGTGGACTTTGATGT	0.582													15	18					0	0	1	0	0	A	113403801	G	A	113403801	3	1	366	1	0	0	0	0	1	0	0	0	10801	1174	41	2	2702	2	OAS3	12	113403801	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	18762029	113403801	20448094	7	6162											
RANBP10	57610	broad.mit.edu	37	chr16	67762359	67762359	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attaacaatgcgtgtggacaTgcttcctagcacaccgttgg	10	10	0	0			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr16:67762359T>A	uc002eud.3	-	10	1524	c.1408A>T	c.(1408-1410)Atg>Ttg	p.M470L	RANBP10_uc010ceo.3_Missense_Mutation_p.M241L|RANBP10_uc010vju.2_Missense_Mutation_p.M444L|RANBP10_uc010vjv.2_Missense_Mutation_p.M383L|RANBP10_uc010vjw.1_Missense_Mutation_p.M161L	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	470										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGTGTGGACATGCTTCCTAGC	0.582													18	40					0	0	1	0	0	A	67762359	T	A	67762359	3	1	366	1	0	0	0	0	1	0	0	0	13026	1464	51	5	470	5	RANBP10	16	67762359	Missense_Mutation	SNP	T	TCGA-FY-A3NP-01A-11D-A21A-08		67762359	22592394	8	6163											
PCSK4	54760	broad.mit.edu	37	chr19	1490315	1490315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggccaagaccaggcGcagccacagcgcaatcgggg	16	14	0	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:1490315G>A	uc002ltb.1	-	0	93	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.2_5'Flank|REEP6_uc002ltc.3_5'Flank	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	11					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCAGGCGCAGCCACAGC	0.751													2	1					0	0	1	0	0	A	1490315	G	A	1490315	3	1	366	1	0	0	0	0	1	0	0	0	11602	1087	38	1	2296	1	PCSK4	19	1490315	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		1490315	57638668	9	6164											
LPHN1	22859	broad.mit.edu	37	chr19	14267930	14267930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggaagaaatagtgcaGcaggccggcgaagatggggc	17	8	0	2			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:14267930G>A	uc010xnn.2	-	15	3084	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	LPHN1_uc010xno.2_Silent_p.L925L|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	930					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAATAGTGCAGCAGGCCGGCG	0.642													3	30					0	0	1	0	0	A	14267930	G	A	14267930	2	1	366	1	0	0	0	0	0	0	0	1	8915	962	34	2		2	LPHN1	19	14267930	Silent	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	12777615	14267930	44861053	10	6165											
ZNF225	7768	broad.mit.edu	37	chr19	44635831	44635831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaaaacgcttcatttAtaggcaagatctttataagc	8	6	2	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:44635831A>G	uc002oyj.1	+	4	1307	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	ZNF225_uc010ejf.1_Missense_Mutation_p.Y355C	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGCTTCATTTATAGGCAAGAT	0.423													17	29					0	0	1	0	0	G	44635831	A	G	44635831	3	3	366	1	0	0	0	0	1	0	0	0	17776	449	16	3	1078	3	ZNF225	19	44635831	Missense_Mutation	SNP	A	TCGA-FY-A3NP-01A-11D-A21A-08	30367901	44635831	14493152	11	6166											
CLTCL1	8218	broad.mit.edu	37	chr22	19183842	19183842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtggctcatcatggtgaGcacagcattgtcatactcct	12	10	3	1			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr22:19183842G>A	uc021wle.1	-	25	4201	c.4126C>T	c.(4126-4128)Ctc>Ttc	p.L1376F	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.L1376F|CLTCL1_uc011agw.1_Missense_Mutation_p.L1355F|CLTCL1_uc011agt.2_Missense_Mutation_p.L167F|CLTCL1_uc011agu.2_Missense_Mutation_p.L167F|CLTCL1_uc010grm.1_Missense_Mutation_p.L136F|CLTCL1_uc002zpd.1_Missense_Mutation_p.L283F|CLTCL1_uc002zpe.2_3'UTR	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1376	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATCATGGTGAGCACAGCATTG	0.567			T	?	ALCL								3	46					0	0	1	0	0	A	19183842	G	A	19183842	3	1	366	1	0	0	0	0	1	0	0	0	3567	971	34	2	824	2	CLTCL1	22	19183842	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		19183842	32120724	12	6167											
LAMC1	3915	broad.mit.edu	37	chr1	183111704	183111704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacctgaataagctaaacGagattgaaggcaccctaaac	9	9	0	3	rs79826197	by1000genomes	TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr1:183111704G>A	uc001gpy.4	+	27	4866	c.4609G>A	c.(4609-4611)Gag>Aag	p.E1537K		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1537	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAAGCTAAACGAGATTGAAGG	0.448													3	66					0	0	1	0	0	A	183111704	G	A	183111704	3	1	367	1	0	0	0	0	1	0	0	0	8614	1059	37	1	4719	1	LAMC1	1	183111704	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		183111704	66138917	1	6168											
HCLS1	3059	broad.mit.edu	37	chr3	121351231	121351231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgagcacctcctcataGtccccctctggttcatcctc	7	18	3	0			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr3:121351231G>C	uc003eeh.4	-	11	1313	c.1188C>G	c.(1186-1188)gaC>gaG	p.D396E	HCLS1_uc011bjj.2_Missense_Mutation_p.D359E|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	396					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTCCTCATAGTCCCCCTCTG	0.557													8	380					0	0	1	0	0	C	121351231	G	C	121351231	3	2	367	1	0	0	0	0	1	0	0	0	6995	1020	36	4	284	4	HCLS1	3	121351231	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		121351231	76671199	2	6169											
MAP1B	4131	broad.mit.edu	37	chr5	71490028	71490028	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgaatggtttcaatatGctcatcaatggcggatcaga	11	7	4	2			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr5:71490028G>C	uc003kbw.4	+	4	1087	c.846G>C	c.(844-846)atG>atC	p.M282I	MAP1B_uc010iyw.1_Missense_Mutation_p.M299I|MAP1B_uc010iyx.1_Missense_Mutation_p.M156I|MAP1B_uc010iyy.1_Missense_Mutation_p.M156I	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	282						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTTTCAATATGCTCATCAATG	0.502													12	121					0	0	1	0	0	C	71490028	G	C	71490028	3	2	367	1	0	0	0	0	1	0	0	0	9228	1319	46	4	864	4	MAP1B	5	71490028	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		71490028	109425232	3	6170											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				49	84					0	0	1	0	0	T	140453136	A	T	140453136	3	4	367	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3ON-01A-11D-A21Z-08		140453136	18685527	4	6171											
SUFU	51684	broad.mit.edu	37	chr10	104353429	104353429	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagagctacactcagccCagcagtggaacgggcagggc	14	12	1	2			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr10:104353429C>T	uc001kvy.2	+	4	825	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	SUFU_uc001kvw.2_Nonsense_Mutation_p.Q212*|SUFU_uc001kvx.3_Nonsense_Mutation_p.Q212*	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	212					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	p.Q212K(2)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACACTCAGCCCAGCAGTGGAA	0.617			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				18	80					0	0	1	0	0	T	104353429	C	T	104353429	4	4	367	1	0	0	0	0	0	1	0	0	15367	595	21	2	652	2	SUFU	10	104353429	Nonsense_Mutation	SNP	C	TCGA-FY-A3ON-01A-11D-A21Z-08		104353429	31181318	5	6172											
RETN	56729	broad.mit.edu	37	chr19	7734285	7734285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagaccctgtgctccatgGaagaagccatcaatgagagg	12	10	1	3			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr19:7734285G>A	uc002mhg.1	+	1	110	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	RETN_uc002mhf.1_Missense_Mutation_p.E25K|RETN_uc010dvm.1_Non-coding_Transcript	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	25							hormone activity			ovary(1)	1						GTGCTCCATGGAAGAAGCCAT	0.587													11	175					0	0	1	0	0	A	7734285	G	A	7734285	3	1	367	1	0	0	0	0	1	0	0	0	13236	1175	41	2	75	2	RETN	19	7734285	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		7734285	51394698	6	6173											
RNF186	54546	broad.mit.edu	37	chr1	20141106	20141106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgaggataatgagcaaGgccagcaggagtaggtgcgc	16	8	0	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr1:20141106G>A	uc001bcr.3	-	0	666	c.489C>T	c.(487-489)gcC>gcT	p.A163A		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	163						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAATGAGCAAGGCCAGCAGGA	0.607													6	161					0	0	1	0	0	A	20141106	G	A	20141106	2	1	368	1	0	0	0	0	0	0	0	1	13469	987	35	2		2	RNF186	1	20141106	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		20141106	229109515	1	6174											
GLYCTK	132158	broad.mit.edu	37	chr3	52326848	52326848	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtggccggaaccaggaactGgccctgcgtgttggagcaga	17	10	0	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr3:52326848G>C	uc003ddo.3	+	4	1374	c.1278G>C	c.(1276-1278)ctG>ctC	p.L426L	GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.3_Silent_p.L90L	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	426					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		ACCAGGAACTGGCCCTGCGTG	0.657													30	87					0	0	1	0	0	C	52326848	G	C	52326848	2	2	368	1	0	0	0	0	0	0	0	1	6482	1335	47	4		4	GLYCTK	3	52326848	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		52326848	145695582	2	6175											
LETM1	3954	broad.mit.edu	37	chr4	1838262	1838262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacgaacacaaggaacGgcaccaggcggaagaggtca	12	13	1	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr4:1838262G>A	uc003gdv.3	-	3	929	c.632C>T	c.(631-633)cCg>cTg	p.P211L	LETM1_uc010icc.3_5'UTR|LETM1_uc011bvg.2_Missense_Mutation_p.P211L	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	211	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CACAAGGAACGGCACCAGGCG	0.562													31	125					0	0	1	0	0	A	1838262	G	A	1838262	3	1	368	1	0	0	0	0	1	0	0	0	8734	1116	39	1	1631	1	LETM1	4	1838262	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		1838262	189316014	3	6176											
ADAMTS6	11174	broad.mit.edu	37	chr5	64629869	64629869	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaccaaaaaaaacttacCcagtgttccacagggcttat	5	10	0	0			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:64629869C>T	uc003jtp.3	-	8	1931	c.1117_splice	c.e8+1	p.G373_splice	ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	373	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		aaaaaCTTACCCAGTGTTCCA	0.259													17	47					0	0	1	0	0	T	64629869	C	T	64629869	5	4	368	1	0	0	0	0	0	0	1	0	270	637	22	2	2308	2	ADAMTS6	5	64629869	Splice_Site	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08		64629869	116285391	4	6177											
FAT2	2196	broad.mit.edu	37	chr5	150925516	150925516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggattttcagctggtaagaCgagattttctcatggtccaa	10	8	2	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:150925516C>T	uc003lue.4	-	8	5185	c.5172G>A	c.(5170-5172)tcG>tcA	p.S1724S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1724	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTAAGACGAGATTTTCT	0.413													28	148					0	0	1	0	0	T	150925516	C	T	150925516	2	4	368	1	0	0	0	0	0	0	0	1	5690	523	19	1		1	FAT2	5	150925516	Silent	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08	86295647	150925516	29989744	5	6178											
PWWP2A	114825	broad.mit.edu	37	chr5	159520656	159520656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactaccttttctaatttccTttttttcagcaacaacactg	2	11	2	0			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:159520656T>C	uc011ded.2	-	1	1058	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	PWWP2A_uc003lxv.4_Missense_Mutation_p.K334R|PWWP2A_uc011dec.2_Missense_Mutation_p.K334R	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	334										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTAATTTCCTTTTTTTCAGC	0.333													3	63					0	0	1	0	0	C	159520656	T	C	159520656	3	2	368	1	0	0	0	0	1	0	0	0	12845	1609	56	3	1412	3	PWWP2A	5	159520656	Missense_Mutation	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08	8595140	159520656	21394604	6	6179											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatggcttacggatcccTttttcacttgccccctgcca	6	15	2	0			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr6:139266690T>C	uc003qii.3	-	2	1001	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_uc003qig.4_Missense_Mutation_p.K141R|REPS1_uc011edr.2_Missense_Mutation_p.K141R|REPS1_uc003qij.3_Missense_Mutation_p.K141R|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	141						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													5	351					0	0	1	0	0	C	139266690	T	C	139266690	3	2	368	1	0	0	0	0	1	0	0	0	13228	1609	56	3	2040	3	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08		139266690	31848377	7	6180											
EIF4H	7458	broad.mit.edu	37	chr7	73609165	73609165	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgcttcagagatggcccTcccctccgtggatccaacat	9	16	1	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr7:73609165T>C	uc003uad.1	+	5	572	c.564T>C	c.(562-564)ccT>ccC	p.P188P	EIF4H_uc003uae.1_Silent_p.P168P	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	188					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GAGATGGCCCTCCCCTCCGTG	0.617													3	76					0	0	1	0	0	C	73609165	T	C	73609165	2	2	368	1	0	0	0	0	0	0	0	1	5039	1538	54	3		3	EIF4H	7	73609165	Silent	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08		73609165	85529498	8	6181											
CFTR	1080	broad.mit.edu	37	chr7	117175426	117175426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgatagtccttgcccTttttcaggctgggctaggga	11	10	1	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr7:117175426T>C	uc003vjd.3	+	5	836	c.704T>C	c.(703-705)cTt>cCt	p.L235P	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	235	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTCCTTGCCCTTTTTCAGGCT	0.438									Cystic Fibrosis				3	117					0	0	1	0	0	C	117175426	T	C	117175426	3	2	368	1	0	0	0	0	1	0	0	0	3294	1609	56	3	726	3	CFTR	7	117175426	Missense_Mutation	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08	43566261	117175426	41963237	9	6182											
USP20	10868	broad.mit.edu	37	chr9	132631703	132631703	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgtctcacctgtgaccGggtgggtgccccagggatgg	17	11	1	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr9:132631703G>A	uc004bys.2	+	13	1603	c.1392_splice	c.e13+1	p.R464_splice	USP20_uc004byr.2_Splice_Site_p.R464_splice|USP20_uc004byt.1_Splice_Site_p.R464_splice	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	464					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCTGTGACCGGGTGGGTGCC	0.667													3	94					0	0	1	0	0	A	132631703	G	A	132631703	5	1	368	1	0	0	0	0	0	0	1	0	17049	1130	39	1	1433	1	USP20	9	132631703	Splice_Site	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		132631703	8581728	10	6183											
C11orf87	399947	broad.mit.edu	37	chr11	109294541	109294541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagtccttctcctccaCgctggtgctgattgtcctgg	9	15	1	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr11:109294541C>T	uc010rwb.2	+	1	585	c.182C>T	c.(181-183)aCg>aTg	p.T61M	C11orf87_uc021qqf.1_Missense_Mutation_p.T61M	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.	61						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						TTCTCCTCCACGCTGGTGCTG	0.612													13	66					0	0	1	0	0	T	109294541	C	T	109294541	3	4	368	1	0	0	0	0	1	0	0	0	1669	536	19	1	184	1	C11orf87	11	109294541	Missense_Mutation	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08		109294541	25711975	11	6184											
A2ML1	144568	broad.mit.edu	37	chr12	8988135	8988135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggattgcacagtggctGgaagtggtacctgagcaagg	15	7	0	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr12:8988135G>A	uc001quz.4	+	5	614	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	16						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACAGTGGCTGGAAGTGGTAC	0.532													4	166					0	0	1	0	0	A	8988135	G	A	8988135	2	1	368	1	0	0	0	0	0	0	0	1	5	1335	47	2		2	A2ML1	12	8988135	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		8988135	124863760	12	6185											
SIRT4	23409	broad.mit.edu	37	chr12	120741654	120741654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatggtgattttgtccGgagtgccccaatccgccagc	11	14	0	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr12:120741654G>A	uc001tyc.3	+	1	349	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	97	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATTTTGTCCGGAGTGCCCCA	0.582													3	44					0	0	1	0	0	A	120741654	G	A	120741654	3	1	368	1	0	0	0	0	1	0	0	0	14340	1116	39	1	292	1	SIRT4	12	120741654	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08	111753519	120741654	13110241	13	6186											
SLC12A4	6560	broad.mit.edu	37	chr16	67988622	67988622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagaagcacaggcccacaGcacctccaaattctggcccc	9	16	1	1			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr16:67988622G>A	uc010vkj.1	-	4	645	c.605C>T	c.(604-606)gCt>gTt	p.A202V	SLC12A4_uc010ceu.2_Missense_Mutation_p.A194V|SLC12A4_uc010vkh.1_Missense_Mutation_p.A169V|SLC12A4_uc002euz.2_Missense_Mutation_p.A200V|SLC12A4_uc010vki.1_Missense_Mutation_p.A200V|SLC12A4_uc002eva.2_Missense_Mutation_p.A200V|SLC12A4_uc002evb.2_Non-coding_Transcript|SLC12A4_uc010cew.1_Missense_Mutation_p.A83V	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	200					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGGCCCACAGCACCTCCAAA	0.552													3	100					0	0	1	0	0	A	67988622	G	A	67988622	3	1	368	1	0	0	0	0	1	0	0	0	14385	971	34	2	2734	2	SLC12A4	16	67988622	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		67988622	22366131	14	6187											
KIAA1609	57707	broad.mit.edu	37	chr16	84520509	84520509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgacgctcagggaccaggGtagtcagatcaagagacgag	14	9	3	3			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr16:84520509G>A	uc002fib.3	-	4	793	c.686C>T	c.(685-687)aCc>aTc	p.T229I	KIAA1609_uc010vod.2_Missense_Mutation_p.T202I	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	229							protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						AGGGACCAGGGTAGTCAGATC	0.562													3	69					0	0	1	0	0	A	84520509	G	A	84520509	3	1	368	1	0	0	0	0	1	0	0	0	8247	1261	44	2	700	2	KIAA1609	16	84520509	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08	16531887	84520509	5834244	15	6188											
EPB41L3	23136	broad.mit.edu	37	chr18	5395089	5395089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatggtcaatgtctgcatCccccgtgatgactattcgct	9	12	3	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr18:5395089C>T	uc002kmt.1	-	20	3216	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N	EPB41L3_uc010wzh.1_Missense_Mutation_p.D875N|EPB41L3_uc002kmu.1_Missense_Mutation_p.D822N|EPB41L3_uc010dkq.1_Missense_Mutation_p.D713N|EPB41L3_uc002kms.1_Missense_Mutation_p.D279N|EPB41L3_uc010wze.1_Missense_Mutation_p.D349N|EPB41L3_uc010wzf.1_Missense_Mutation_p.D341N|EPB41L3_uc010wzg.1_Missense_Mutation_p.D316N|EPB41L3_uc010dkr.2_Missense_Mutation_p.D436N	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1044	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G1043W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGTCTGCATCCCCCGTGATG	0.443													21	100					0	0	1	0	0	T	5395089	C	T	5395089	3	4	368	1	0	0	0	0	1	0	0	0	5154	855	30	2	141	2	EPB41L3	18	5395089	Missense_Mutation	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08		5395089	72682159	16	6189											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021268	46021268	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgtgcccacctgctcTgatgattccggttcatgctg	11	12	2	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr21:46021268T>G	uc002zfn.4	+	1	757	c.732T>G	c.(730-732)tcT>tcG	p.S244S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	249	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCACCTGCTCTGATGATTCCG	0.642													52	243					0	0	1	0	0	G	46021268	T	G	46021268	2	3	368	1	0	0	0	0	0	0	0	1	8514	1567	55	5		5	KRTAP10-7	21	46021268	Silent	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08		46021268	2108627	17	6190											
PRMT2	3275	broad.mit.edu	37	chr21	48069639	48069639	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtgtctgagtggatgggGacctgcctgctggtgagggc	19	8	1	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr21:48069639G>A	uc002zjx.3	+	6	976	c.642G>A	c.(640-642)ggG>ggA	p.G214G	PRMT2_uc021wkc.1_Silent_p.G214G|PRMT2_uc002zjw.3_Silent_p.G214G|PRMT2_uc002zjy.3_Silent_p.G214G|PRMT2_uc010gqm.3_Silent_p.G214G|PRMT2_uc011aga.2_Silent_p.G214G|PRMT2_uc011agb.2_Silent_p.G214G|PRMT2_uc011agc.2_Silent_p.G214G|PRMT2_uc002zjz.1_Silent_p.G100G	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	214	Interaction with ESR1.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AGTGGATGGGGACCTGCCTGC	0.657													3	37					0	0	1	0	0	A	48069639	G	A	48069639	2	1	368	1	0	0	0	0	0	0	0	1	12537	1161	41	2		2	PRMT2	21	48069639	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08	2048371	48069639	60256	18	6191											
CARD10	29775	broad.mit.edu	37	chr22	37888680	37888680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacttggaagtccagccggGagctgggcaggtctagcagg	16	10	1	0			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr22:37888680G>A	uc003asx.1	-	16	2623	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asu.1_5'Flank|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.S187F|CARD10_uc003asw.1_Missense_Mutation_p.S583F|CARD10_uc003asy.1_Missense_Mutation_p.S869F	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	869					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GTCCAGCCGGGAGCTGGGCAG	0.682													6	32					0	0	1	0	0	A	37888680	G	A	37888680	3	1	368	1	0	0	0	0	1	0	0	0	2644	1174	41	2	508	2	CARD10	22	37888680	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		37888680	13415886	19	6192											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912899	77912899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgaggtggaagtgggttGctacatgaccctccccttgg	13	10	0	2			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chrX:77912899G>T	uc004edc.1	-	1	1315	c.1019C>A	c.(1018-1020)gCa>gAa	p.A340E	ZCCHC5_uc022bzi.1_Missense_Mutation_p.A340E	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	340							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GAAGTGGGTTGCTACATGACC	0.453													8	43					0	0	1	0	0	T	77912899	G	T	77912899	3	4	368	1	0	0	0	0	1	0	0	0	17588	1319	46	4	412	4	ZCCHC5	23	77912899	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		77912899	77357661	20	6193											
ASH1L	55870	broad.mit.edu	37	chr1	155491013	155491013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagttctccaagttctttgGaggttttttagttctcttag	8	6	3	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:155491013G>A	uc009wqq.3	-	1	778	c.298C>T	c.(298-300)Cca>Tca	p.P100S	ASH1L_uc001fkt.3_Missense_Mutation_p.P100S|ASH1L_uc009wqr.1_Missense_Mutation_p.P100S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	100					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGTTCTTTGGAGGTTTTTTA	0.373													6	220					0	0	1	0	0	A	155491013	G	A	155491013	3	1	369	1	0	0	0	0	1	0	0	0	1041	1174	41	2	8704	2	ASH1L	1	155491013	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		155491013	93759608	1	6194											
C2orf42	54980	broad.mit.edu	37	chr2	70402827	70402827	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttttaacgaggaagcAaccacaggctttttcaggcc	9	11	1	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:70402827A>C	uc002sgh.3	-	4	1345	c.1017T>G	c.(1015-1017)gtT>gtG	p.V339V		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	339										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACGAGGAAGCAACCACAGGCT	0.438													7	363					0	0	1	0	0	C	70402827	A	C	70402827	2	2	369	1	0	0	0	0	0	0	0	1	2166	117	5	5		5	C2orf42	2	70402827	Silent	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08		70402827	172796546	2	6195											
THSD7B	80731	broad.mit.edu	37	chr2	138414527	138414527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacaggttctagaaacaCgcccttgtacaggtaccaag	8	13	1	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:138414527C>T	uc002tva.1	+	21	4177	c.4177C>T	c.(4177-4179)Cgc>Tgc	p.R1393C	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTAGAAACACGCCCTTGTAC	0.408													23	215					0	0	1	0	0	T	138414527	C	T	138414527	3	4	369	1	0	0	0	0	1	0	0	0	15877	536	19	1	4265	1	THSD7B	2	138414527	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	68011700	138414527	104784846	3	6196											
CDC23	8697	broad.mit.edu	37	chr5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaagcaggtaggaaaaAgggagcaggcacctcggtgg	18	6	0	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:137524750A>G	uc003lcl.3	-	15	1742	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	571					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532													3	100					0	0	1	0	0	G	137524750	A	G	137524750	3	3	369	1	0	0	0	0	1	0	0	0	3061	72	3	3	86	3	CDC23	5	137524750	Missense_Mutation	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08		137524750	43390510	4	6197											
GALNT10	55568	broad.mit.edu	37	chr5	153789197	153789197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctccgctggggatgtcGcagtccagaaaaagctccgc	11	14	1	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:153789197G>A	uc003lvh.3	+	8	1393	c.1261G>A	c.(1261-1263)Gca>Aca	p.A421T	GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.A262T|FLJ38109_uc003lvi.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	421						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			tggggatgtcgcagtccagaa	0.542													5	192					0	0	1	0	0	A	153789197	G	A	153789197	3	1	369	1	0	0	0	0	1	0	0	0	6208	1087	38	1	1295	1	GALNT10	5	153789197	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08	16264447	153789197	27126063	5	6198											
C6orf221	154288	broad.mit.edu	37	chr6	74073506	74073506	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaagtcggggacccagCgatcccccgaagctgccagc	11	17	0	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr6:74073506C>T	uc003pgt.4	+	2	630	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	193										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						GGGGACCCAGCGATCCCCCGA	0.642													4	74					0	0	1	0	0	T	74073506	C	T	74073506	4	4	369	1	0	0	0	0	0	1	0	0	2355	760	27	1	587	1	C6orf221	6	74073506	Nonsense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		74073506	97041561	6	6199											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652207	121652207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaacatctgtgtttggtgAtgataataaggcgctttcta	9	6	2	2			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:121652207A>G	uc003vjy.3	+	11	3502	c.3107A>G	c.(3106-3108)gAt>gGt	p.D1036G	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1036					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGTTTGGTGATGATAATAAG	0.363													4	120					0	0	1	0	0	G	121652207	A	G	121652207	3	3	369	1	0	0	0	0	1	0	0	0	12814	333	12	3	3153	3	PTPRZ1	7	121652207	Missense_Mutation	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08		121652207	37486456	7	6200											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	113					0	0	1	0	0	T	140453136	A	T	140453136	3	4	369	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08	18800929	140453136	18685527	8	6201											
VDAC3	7419	broad.mit.edu	37	chr8	42259489	42259489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaactgtcacagaataatttCgccctgggttacaaggctgc	9	10	1	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:42259489C>T	uc022aul.1	+	5	512	c.510C>T	c.(508-510)ttC>ttT	p.F170F	VDAC3_uc010lxk.3_3'UTR|VDAC3_uc003xpc.3_Silent_p.F169F|VDAC3_uc011lct.2_Silent_p.F169F	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	169					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGAATAATTTCGCCCTGGGTT	0.463													4	77					0	0	1	0	0	T	42259489	C	T	42259489	2	4	369	1	0	0	0	0	0	0	0	1	17145	883	31	1		1	VDAC3	8	42259489	Silent	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		42259489	104104533	9	6202											
NECAB1	64168	broad.mit.edu	37	chr8	91804128	91804128	+	Frame_Shift_Del	DEL	A	A	-													cccgaggatggaagattcccAggagacatcgccgtcctcca							TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:91804128delA	uc011lgg.2	+	0	208	c.14delA	c.(13-15)cagfs	p.Q5fs	TMEM64_uc003yeo.2_5'Flank	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA.	5					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAGATTCCCAGGAGACATCG	0.647													2	4	---	---	---	---						-	91804128	A	-	91804128	7	5	369	1	0	1	0	1	0	0	0	0	10304	188	7	0	16	0	NECAB1	8	91804128	Frame_Shift_Del	DEL	A	TCGA-FY-A3R7-01A-11D-A21Z-08	49544639	91804128	54559894	10	6203											
SLC2A14	144195	broad.mit.edu	37	chr12	7984255	7984255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccgatcatacccccgaCggaaaatatggccacagaca	10	13	1	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:7984255C>T	uc010sgh.2	-	2	352	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	SLC2A14_uc001qtk.3_Missense_Mutation_p.V96I|SLC2A14_uc001qtl.3_Missense_Mutation_p.V73I|SLC2A14_uc001qtm.3_Missense_Mutation_p.V73I|SLC2A14_uc010sgg.2_Intron|SLC2A14_uc001qtn.3_Missense_Mutation_p.V96I|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	96					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATACCCCCGACGGAAAATATG	0.493											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	134					0	0	1	0	0	T	7984255	C	T	7984255	3	4	369	1	0	0	0	0	1	0	0	0	14543	536	19	1	1308	1	SLC2A14	12	7984255	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		7984255	125867640	11	6204											
OAS2	4939	broad.mit.edu	37	chr12	113447028	113447028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggactggaaacccaataCcaccttggaaagtgccggta	11	10	0	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:113447028C>A	uc001tuj.3	+	9	2172	c.2032C>A	c.(2032-2034)Cca>Aca	p.P678T	OAS2_uc001tui.1_Missense_Mutation_p.P678T	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	678	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAACCCAATACCACCTTGGAA	0.493													10	356					0	0	1	0	0	A	113447028	C	A	113447028	3	1	369	1	0	0	0	0	1	0	0	0	10800	507	18	4	2141	4	OAS2	12	113447028	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	105462773	113447028	20404867	12	6205											
DHX37	57647	broad.mit.edu	37	chr12	125459964	125459964	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggaagtagagccctcaCcgctgggacagattcatctc	11	13	3	2			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:125459964C>T	uc001ugy.3	-	6	1079	c.980_splice	c.e6+1	p.R327_splice		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	327	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGAGCCCTCACCGCTGGGACA	0.652													7	118					0	0	1	0	0	T	125459964	C	T	125459964	5	4	369	1	0	0	0	0	0	0	1	0	4510	521	18	2	2580	2	DHX37	12	125459964	Splice_Site	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	12012936	125459964	8391931	13	6206											
MDGA2	161357	broad.mit.edu	37	chr14	47426730	47426730	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taataatttattgcccaagcGccactcataggtcagcaccc	6	13	2	0			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr14:47426730G>C	uc001wwj.4	-	8	2094	c.1936C>G	c.(1936-1938)Cgc>Ggc	p.R646G	MDGA2_uc001wwi.4_Missense_Mutation_p.R348G|MDGA2_uc010ani.3_Missense_Mutation_p.R137G|SNORA25_uc021rsl.1_5'Flank	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	577					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGCCCAAGCGCCACTCATAG	0.453													5	125					0	0	1	0	0	C	47426730	G	C	47426730	3	2	369	1	0	0	0	0	1	0	0	0	9407	1087	38	4	1177	4	MDGA2	14	47426730	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		47426730	59922810	14	6207											
KIAA0513	9764	broad.mit.edu	37	chr16	85100875	85100875	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgccctcgcacccgtcctgGgaccaagaccgccgttcctc	9	20	0	1			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr16:85100875G>C	uc002fiu.3	+	1	418	c.198G>C	c.(196-198)tgG>tgC	p.W66C	KIAA0513_uc010voj.2_Missense_Mutation_p.W66C|KIAA0513_uc002fit.3_Missense_Mutation_p.W66C	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	66						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCCGTCCTGGGACCAAGACC	0.617													5	69					0	0	1	0	0	C	85100875	G	C	85100875	3	2	369	1	0	0	0	0	1	0	0	0	8181	1241	43	4	200	4	KIAA0513	16	85100875	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		85100875	5253878	15	6208											
ZNF610	162963	broad.mit.edu	37	chr19	52869879	52869879	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcaaattatacctaacCaaccatcagagaattcatac	6	11	2	1	rs139676524		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr19:52869879C>A	uc002pyx.4	+	5	1654	c.1248C>A	c.(1246-1248)acC>acA	p.T416T	ZNF610_uc002pyy.4_Silent_p.T416T|ZNF610_uc002pyz.4_Silent_p.T373T|ZNF610_uc002pza.3_Silent_p.T416T	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TATACCTAACCAACCATCAGA	0.423													3	86					0	0	1	0	0	A	52869879	C	A	52869879	2	1	369	1	0	0	0	0	0	0	0	1	18033	581	21	4		4	ZNF610	19	52869879	Silent	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		52869879	6259104	16	6209											
SHROOM2	357	broad.mit.edu	37	chrX	9841718	9841718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcagtaaagccgcggcGgtcgacaagttactggctgg	17	9	0	0	rs139542964		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:9841718G>A	uc004csu.1	+	1	282	c.192G>A	c.(190-192)gcG>gcA	p.A64A		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	64	PDZ.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.A63T(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAGCCGCGGCGGTCGACAAGT	0.537											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	134					0	0	1	0	0	A	9841718	G	A	9841718	2	1	369	1	0	0	0	0	0	0	0	1	14294	1103	39	1		1	SHROOM2	23	9841718	Silent	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		9841718	145428842	17	6210											
MAMLD1	10046	broad.mit.edu	37	chrX	149631107	149631107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcagcccaggaagaaagCatcaggtaagcataagctta	11	8	1	2			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:149631107C>T	uc004fee.2	+	1	229	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	MAMLD1_uc011mxt.1_Missense_Mutation_p.H18Y|MAMLD1_uc011mxu.2_Intron|MAMLD1_uc011mxv.2_Intron	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 2, mRNA.	56					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAAAGCATCAGGTAAG	0.517													9	61					0	0	1	0	0	T	149631107	C	T	149631107	3	4	369	1	0	0	0	0	1	0	0	0	9208	710	25	2	172	2	MAMLD1	23	149631107	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	139789389	149631107	5639453	18	6211											
SLC2A5	6518	broad.mit.edu	37	chr1	9117665	9117665	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcattgtaaaattgttgcatGagctaggagacaaagcaaaa	9	5	1	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:9117665G>C	uc001apo.3	-	2	427	c.135C>G	c.(133-135)ctC>ctG	p.L45L	SLC2A5_uc010nzz.2_Intron|SLC2A5_uc010oaa.2_Intron|SLC2A5_uc010oac.2_Silent_p.L45L|SLC2A5_uc001app.4_Silent_p.L45L|SLC2A5_uc021ofv.1_Non-coding_Transcript	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	45					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTTGCATGAGCTAGGAGA	0.423													13	16					0	0	1	0	0	C	9117665	G	C	9117665	2	2	370	1	0	0	0	0	0	0	0	1	14548	1277	45	4		4	SLC2A5	1	9117665	Silent	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08		9117665	240132956	1	6212											
AKR7L	246181	broad.mit.edu	37	chr1	19597040	19597040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggagaggccaagctccaCgaacttgccctgctcgggtg	14	12	0	1	rs114623957	by1000genomes	TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:19597040C>T	uc021oho.1	-	2	412	c.75G>A	c.(73-75)tcG>tcA	p.S25S	AKR7L_uc021ohn.1_5'UTR					Homo sapiens aldo-keto reductase family 7-like (AKR7L), transcript variant 2, non-coding RNA.											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617													3	40					0	0	1	0	0	T	19597040	C	T	19597040	2	4	370	1	0	0	0	0	0	0	0	1	477	536	19	1		1	AKR7L	1	19597040	Silent	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08	10479375	19597040	229653581	2	6213											
FLG	2312	broad.mit.edu	37	chr1	152285714	152285714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagaccttccctgggatgTggtgtggctgtgatgggaac	15	8	1	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:152285714T>C	uc001ezu.1	-	2	1684	c.1648A>G	c.(1648-1650)Aca>Gca	p.T550A	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	550	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGGATGTGGTGTGGCTG	0.567									Ichthyosis				56	315					0	0	1	0	0	C	152285714	T	C	152285714	3	2	370	1	0	0	0	0	1	0	0	0	5922	1696	59	3	10541	3	FLG	1	152285714	Missense_Mutation	SNP	T	TCGA-FY-A3R8-01A-11D-A21Z-08	132688674	152285714	96964907	3	6214											
PAQR6	79957	broad.mit.edu	37	chr1	156215632	156215632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagatgtggcgcatgcggGgcgacatggagctgaaggtg	19	7	0	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:156215632G>T	uc001fnz.1	-	2	624	c.8C>A	c.(7-9)cCc>cAc	p.P3H	PAQR6_uc001fnv.1_Missense_Mutation_p.P85H|PAQR6_uc010phg.1_Missense_Mutation_p.P106H|PAQR6_uc001fnx.1_Missense_Mutation_p.P3H|PAQR6_uc001fnu.1_Missense_Mutation_p.P109H|PAQR6_uc010phf.1_5'UTR|PAQR6_uc001fny.1_5'UTR|PAQR6_uc010phh.1_Missense_Mutation_p.P109H|PAQR6_uc001foa.1_Missense_Mutation_p.P3H|PAQR6_uc001fob.1_Non-coding_Transcript	NM_024897	NP_079173	Q6TCH4	PAQR6_HUMAN	Homo sapiens progestin and adipoQ receptor family member VI (PAQR6), transcript variant 1, mRNA.	109						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCGCATGCGGGGCGACATGGA	0.697													3	7					0	0	1	0	0	T	156215632	G	T	156215632	3	4	370	1	0	0	0	0	1	0	0	0	11439	1232	43	4	1067	4	PAQR6	1	156215632	Missense_Mutation	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08	3929918	156215632	93034989	4	6215											
ITIH1	3697	broad.mit.edu	37	chr3	52820397	52820397	+	Frame_Shift_Del	DEL	C	C	-													cgtggccacatgctggagaaCcacgtcgagcgcctctgggc							TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:52820397delC	uc003dfs.3	+	12	1710	c.1680delC	c.(1678-1680)aacfs	p.N560fs	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Frame_Shift_Del_p.N418fs|ITIH1_uc021wzg.1_Frame_Shift_Del_p.N272fs|ITIH1_uc021wzh.1_Frame_Shift_Del_p.N272fs|ITIH1_uc003dft.3_Frame_Shift_Del_p.N161fs	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	560	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCTGGAGAACCACGTCGAGC	0.602													4	2	---	---	---	---						-	52820397	C	-	52820397	7	5	370	1	0	1	0	1	0	0	0	0	7903	506	18	0	1730	0	ITIH1	3	52820397	Frame_Shift_Del	DEL	C	TCGA-FY-A3R8-01A-11D-A21Z-08		52820397	145202033	5	6216											
RYK	6259	broad.mit.edu	37	chr3	133894572	133894572	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggaacaagtctctggagaGggcattgtctgtgatcttaa	14	6	3	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:133894572G>C	uc003eqc.1	-	13	1551	c.1453C>G	c.(1453-1455)Ctc>Gtc	p.L485V	RYK_uc003eqd.1_Missense_Mutation_p.L482V	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	483	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TCTCTGGAGAGGGCATTGTCT	0.408													10	60					0	0	1	0	0	C	133894572	G	C	133894572	3	2	370	1	0	0	0	0	1	0	0	0	13767	1000	35	4	379	4	RYK	3	133894572	Missense_Mutation	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08	81074175	133894572	64127858	6	6217											
CORIN	10699	broad.mit.edu	37	chr4	47644047	47644047	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcagaaaggaagaggagttCacatttatagagagggtcac	12	5	3	3			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:47644047C>A	uc003gxm.3	-	15	2181	c.2088G>T	c.(2086-2088)gtG>gtT	p.V696V	CORIN_uc011bzf.2_Silent_p.V557V|CORIN_uc011bzg.2_Silent_p.V629V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	696	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGAGGAGTTCACATTTATAG	0.448													9	31					0	0	1	0	0	A	47644047	C	A	47644047	2	1	370	1	0	0	0	0	0	0	0	1	3752	813	29	4		4	CORIN	4	47644047	Silent	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		47644047	143510229	7	6218											
BMP3	651	broad.mit.edu	37	chr4	81967362	81967362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaagcttacagggacacCggaattttcccactggaact	8	11	1	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:81967362C>T	uc003hmg.4	+	1	1107	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	263					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACAGGGACACCGGAATTTTCC	0.498													4	59					0	0	1	0	0	T	81967362	C	T	81967362	3	4	370	1	0	0	0	0	1	0	0	0	1461	643	23	1	793	1	BMP3	4	81967362	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08	34323315	81967362	109186914	8	6219											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239340	5239340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaacgggaataactcagCctgcacgattcacaggggtc	12	10	2	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr5:5239340C>A	uc003jdl.3	+	14	2369	c.2231C>A	c.(2230-2232)gCc>gAc	p.A744D	ADAMTS16_uc003jdk.1_Missense_Mutation_p.A744D|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	744	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AATAACTCAGCCTGCACGATT	0.522													23	83					0	0	1	0	0	A	5239340	C	A	5239340	3	1	370	1	0	0	0	0	1	0	0	0	261	739	26	4	2289	4	ADAMTS16	5	5239340	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		5239340	175675920	9	6220											
MRAP2	112609	broad.mit.edu	37	chr6	84799015	84799015	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacagtgacgtccaactcCaggaagccatcagaagcagt	10	11	1	3			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr6:84799015C>T	uc003pkg.4	+	3	623	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	MRAP2_uc010kbo.3_Nonsense_Mutation_p.Q59*	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	145					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CGTCCAACTCCAGGAAGCCAT	0.522													25	25					0	0	1	0	0	T	84799015	C	T	84799015	4	4	370	1	0	0	0	0	0	1	0	0	9754	595	21	2	443	2	MRAP2	6	84799015	Nonsense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		84799015	86316052	10	6221											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	53					0	0	1	0	0	T	140453136	A	T	140453136	3	4	370	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3R8-01A-11D-A21Z-08		140453136	18685527	11	6222											
COL22A1	169044	broad.mit.edu	37	chr8	139662001	139662001	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcctggggggccaggAgggcagtcattgcacacatc	18	10	1	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr8:139662001A>G	uc003yvd.3	-	45	3801	c.3354T>C	c.(3352-3354)ccT>ccC	p.P1118P	COL22A1_uc011ljo.2_Silent_p.P398P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1118	Collagen-like 10.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCCAGGAGGGCAGTCAT	0.527										HNSCC(7;0.00092)			5	29					0	0	1	0	0	G	139662001	A	G	139662001	2	3	370	1	0	0	0	0	0	0	0	1	3681	291	11	3		3	COL22A1	8	139662001	Silent	SNP	A	TCGA-FY-A3R8-01A-11D-A21Z-08		139662001	6702021	12	6223											
ZNF488	118738	broad.mit.edu	37	chr10	48371510	48371510	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctgtgtgccaggagcacttCcgggagcgccaccacctctc	11	17	1	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:48371510C>G	uc001jex.3	+	1	1140	c.978C>G	c.(976-978)ttC>ttG	p.F326L	ZNF488_uc021ppx.1_Missense_Mutation_p.F326L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGGAGCACTTCCGGGAGCGCC	0.622													14	71					0	0	1	0	0	G	48371510	C	G	48371510	3	3	370	1	0	0	0	0	1	0	0	0	17937	854	30	4	980	4	ZNF488	10	48371510	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		48371510	87163237	13	6224											
PIK3AP1	118788	broad.mit.edu	37	chr10	98416610	98416610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcccaggtgaagtcaccGtcggcaggttctgctgcttc	13	12	2	1			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:98416610G>A	uc001kmq.3	-	2	640	c.512C>T	c.(511-513)aCg>aTg	p.T171M	PIK3AP1_uc001kmp.3_5'UTR	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	171						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGAAGTCACCGTCGGCAGGTT	0.577													4	63					0	0	1	0	0	A	98416610	G	A	98416610	3	1	370	1	0	0	0	0	1	0	0	0	11908	1145	40	1	1965	1	PIK3AP1	10	98416610	Missense_Mutation	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08	50045100	98416610	37118137	14	6225											
DCLRE1A	9937	broad.mit.edu	37	chr10	115595057	115595057	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctaggtagctgctgtgttCactgtaaggaattcctgtaa	10	7	2	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:115595057C>T	uc001law.2	-	8	3895	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	993					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTGCTGTGTTCACTGTAAGGA	0.353								Other identified genes with known or suspected DNA repair function					6	34					0	0	1	0	0	T	115595057	C	T	115595057	3	4	370	1	0	0	0	0	1	0	0	0	4294	835	29	2	149	2	DCLRE1A	10	115595057	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08	17178447	115595057	19939690	15	6226											
LGR4	55366	broad.mit.edu	37	chr11	27390293	27390293	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagcaacccggaactgtttGagatgattgctcttcccatt	9	11	1	2			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:27390293G>A	uc001mrj.4	-	17	2462	c.1977C>T	c.(1975-1977)ctC>ctT	p.L659L	LGR4_uc001mrk.4_Silent_p.L635L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	659						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGAACTGTTTGAGATGATTGC	0.413													13	62					0	0	1	0	0	A	27390293	G	A	27390293	2	1	370	1	0	0	0	0	0	0	0	1	8756	1277	45	2		2	LGR4	11	27390293	Silent	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08		27390293	107616223	16	6227											
OPCML	4978	broad.mit.edu	37	chr11	132812836	132812836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgagggtggcgctcTccccctgccggaccgtcacg	12	18	2	1			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:132812836T>C	uc010sck.2	-	0	202	c.152A>G	c.(151-153)gAg>gGg	p.E51G	OPCML_uc001qgu.3_Missense_Mutation_p.E44G|OPCML_uc001qgs.3_Missense_Mutation_p.E51G|OPCML_uc001qgt.3_Missense_Mutation_p.E51G|OPCML_uc010scl.2_Missense_Mutation_p.E10G	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	51	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGTGGCGCTCTCCCCCTGCCG	0.667													3	31					0	0	1	0	0	C	132812836	T	C	132812836	3	2	370	1	0	0	0	0	1	0	0	0	10874	1551	54	3	913	3	OPCML	11	132812836	Missense_Mutation	SNP	T	TCGA-FY-A3R8-01A-11D-A21Z-08	105422543	132812836	2193680	17	6228											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654786	31654786	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactcttggataagcagttAagttgtccaaagcagttgga	10	6	1	0			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr21:31654786A>G	uc002ynv.3	-	0	491	c.465T>C	c.(463-465)ctT>ctC	p.L155L		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	155						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAAGCAGTTAAGTTGTCCAA	0.458													6	89					0	0	1	0	0	G	31654786	A	G	31654786	2	3	370	1	0	0	0	0	0	0	0	1	8542	349	13	3		3	KRTAP24-1	21	31654786	Silent	SNP	A	TCGA-FY-A3R8-01A-11D-A21Z-08		31654786	16475109	18	6229											
FGD1	2245	broad.mit.edu	37	chrX	54492189	54492189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtccaggtgttgaccagCtccacggcccggtcaaagtt	11	13	2	1			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chrX:54492189C>A	uc004dtg.3	-	6	2171	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D	FGD1_uc011moi.1_Missense_Mutation_p.E237D	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	479	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTTGACCAGCTCCACGGCCC	0.547													13	24					0	0	1	0	0	A	54492189	C	A	54492189	3	1	370	1	0	0	0	0	1	0	0	0	5832	796	28	4	1496	4	FGD1	23	54492189	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		54492189	100778371	19	6230											
COL11A1	1301	broad.mit.edu	37	chr1	103496733	103496733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagagtcacagtctggaCtataatgctcacagtagtca	9	9	4	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:103496733C>A	uc001dum.3	-	4	1037	c.719G>T	c.(718-720)aGt>aTt	p.S240I	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.S240I|COL11A1_uc001dun.3_Missense_Mutation_p.S240I|COL11A1_uc009weh.3_Missense_Mutation_p.S240I	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	240	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTCTGGACTATAATGCTC	0.453													5	34					0	0	1	0	0	A	103496733	C	A	103496733	3	1	371	1	0	0	0	0	1	0	0	0	3667	565	20	4	5110	4	COL11A1	1	103496733	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		103496733	145753888	1	6231											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	8	11	2	0	rs121913254		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			83	128					0	0	1	0	0	T	115256530	G	T	115256530	3	4	371	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	11759797	115256530	133994091	2	6232											
HMCN1	83872	broad.mit.edu	37	chr1	186114607	186114607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacggagggcagatgcggcGgtaccgcacatgtgataacc	14	10	0	2	rs111360184		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186114607G>A	uc001grq.1	+	91	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R349Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4780	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4780W(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557													25	50					0	0	1	0	0	A	186114607	G	A	186114607	3	1	371	1	0	0	0	0	1	0	0	0	7220	1116	39	1	14705	1	HMCN1	1	186114607	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	70858077	186114607	63136014	3	6233											
C1orf27	54953	broad.mit.edu	37	chr1	186359875	186359875	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagattggaagtatcaAagtggattatcatcctcatg	9	8	3	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186359875A>G	uc021pgj.1	+	5	526	c.507A>G	c.(505-507)caA>caG	p.Q169Q	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Silent_p.Q169Q|C1orf27_uc021pgh.1_Silent_p.Q169Q|C1orf27_uc021pgi.1_Silent_p.Q137Q|C1orf27_uc021pgk.1_Silent_p.Q169Q|C1orf27_uc021pgl.1_Silent_p.Q137Q	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.	169						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAAGTATCAAAGTGGATTAT	0.373													27	34					0	0	1	0	0	G	186359875	A	G	186359875	2	3	371	1	0	0	0	0	0	0	0	1	2036	11	1	3		3	C1orf27	1	186359875	Silent	SNP	A	TCGA-FY-A3R9-01A-11D-A21Z-08	245268	186359875	62890746	4	6234											
RYR2	6262	broad.mit.edu	37	chr1	237791321	237791321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcccttggtcagattcgGtccctgctgagtgtgagaat	12	10	1	3			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:237791321G>A	uc001hyl.1	+	40	6501	c.6381G>A	c.(6379-6381)cgG>cgA	p.R2127R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2127	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCAGATTCGGTCCCTGCTGA	0.483													3	70					0	0	1	0	0	A	237791321	G	A	237791321	2	1	371	1	0	0	0	0	0	0	0	1	13769	1248	44	2		2	RYR2	1	237791321	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	51431446	237791321	11459300	5	6235											
OR2M5	127059	broad.mit.edu	37	chr1	248309215	248309215	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtactatggagcaggtTtgttcatgtacatacggccc	11	8	1	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:248309215T>A	uc010pze.2	+	0	766	c.766T>A	c.(766-768)Ttg>Atg	p.L256M		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGAGCAGGTTTGTTCATGTA	0.507													82	202					0	0	1	0	0	A	248309215	T	A	248309215	3	1	371	1	0	0	0	0	1	0	0	0	11013	1838	64	5	768	5	OR2M5	1	248309215	Missense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08	10517894	248309215	941406	6	6236											
SEPSECS	51091	broad.mit.edu	37	chr4	25125832	25125832	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactcacagtttgcatggaCccaagaggcacaaccctgaa	8	14	1	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:25125832C>A	uc003grg.3	-	10	1440	c.1227G>T	c.(1225-1227)ggG>ggT	p.G409G	SEPSECS_uc003gri.3_Silent_p.G408G|SEPSECS_uc003grh.3_Silent_p.G330G	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	409					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TTTGCATGGACCCAAGAGGCA	0.388													7	46					0	0	1	0	0	A	25125832	C	A	25125832	2	1	371	1	0	0	0	0	0	0	0	1	14058	494	18	4		4	SEPSECS	4	25125832	Silent	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		25125832	166028444	7	6237											
AASDH	132949	broad.mit.edu	37	chr4	57215792	57215792	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttggtctgtgaaactgagtCagaaggacaggctgaagagc	15	6	2	5			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:57215792C>G	uc003hbn.3	-	10	2278	c.2125G>C	c.(2125-2127)Gac>Cac	p.D709H	AASDH_uc010ihb.3_Missense_Mutation_p.D224H|AASDH_uc003hbo.3_Missense_Mutation_p.D609H|AASDH_uc011caa.2_Missense_Mutation_p.D556H|AASDH_uc011cab.2_Missense_Mutation_p.D224H|AASDH_uc010ihc.3_Missense_Mutation_p.D709H|AASDH_uc003hbp.3_Missense_Mutation_p.D709H	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	709					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAAACTGAGTCAGAAGGACAG	0.378													4	81					0	0	1	0	0	G	57215792	C	G	57215792	3	3	371	1	0	0	0	0	1	0	0	0	22	826	29	4	1191	4	AASDH	4	57215792	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08	32089960	57215792	133938484	8	6238											
PCDHB7	56129	broad.mit.edu	37	chr5	140553586	140553586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatccaggacgatgtcccCttcatcctgaagccatctgt	7	15	2	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140553586C>T	uc003lit.3	+	0	1344	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P390S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGATGTCCCCTTCATCCTGA	0.473													8	63					0	0	1	0	0	T	140553586	C	T	140553586	2	4	371	1	0	0	0	0	0	0	0	1	11547	668	24	2		2	PCDHB7	5	140553586	Silent	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		140553586	40361674	9	6239											
PCDHGC5	56097	broad.mit.edu	37	chr5	140778384	140778384	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaccactgagctccggatCcaggtaaccgacgccaatga	11	14	0	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140778384C>T	uc003lkf.2	+	0	690	c.690C>T	c.(688-690)atC>atT	p.I230I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.I230I	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	230	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCCGGATCCAGGTAACCG	0.547													34	201					0	0	1	0	0	T	140778384	C	T	140778384	2	4	371	1	0	0	0	0	0	0	0	1	11571	845	30	2		2	PCDHGC5	5	140778384	Silent	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08	224798	140778384	40136876	10	6240											
ZNF187	7741	broad.mit.edu	37	chr6	28244794	28244794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaaccctatcagtgtaGtgaatgtggagaagccttca	10	7	2	3			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:28244794G>T	uc011dlc.2	+	4	1628	c.1358G>T	c.(1357-1359)aGt>aTt	p.S453I	ZNF187_uc003nku.4_Missense_Mutation_p.S319I|ZNF187_uc003nkw.4_Missense_Mutation_p.S300I|ZNF187_uc011dle.2_Missense_Mutation_p.S300I|ZNF187_uc011dlf.2_Missense_Mutation_p.S245I|ZNF187_uc011dld.2_Missense_Mutation_p.S452I|ZNF187_uc011dlg.2_Missense_Mutation_p.S300I	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	453					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TATCAGTGTAGTGAATGTGGA	0.423													5	97					0	0	1	0	0	T	28244794	G	T	28244794	3	4	371	1	0	0	0	0	1	0	0	0	17750	1029	36	4	1370	4	ZNF187	6	28244794	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		28244794	142870273	11	6241											
ZBTB9	221504	broad.mit.edu	37	chr6	33423522	33423522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaggtggaagaagaagaGgaggaggaggaagatgatga	18	1	1	6			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:33423522G>A	uc003oeq.3	+	1	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ZBTB9_uc021ywp.1_Silent_p.E215E	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552													3	97					0	0	1	0	0	A	33423522	G	A	33423522	2	1	371	1	0	0	0	0	0	0	0	1	17555	991	35	2		2	ZBTB9	6	33423522	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	5178728	33423522	137691545	12	6242											
CSMD3	114788	broad.mit.edu	37	chr8	113267520	113267520	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaccactccaagtgccatcTgcttgacatattctggtgct	8	12	2	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr8:113267520T>A	uc003ynu.3	-	61	10158	c.9999A>T	c.(9997-9999)gcA>gcT	p.A3333A	CSMD3_uc003yns.3_Silent_p.A2535A|CSMD3_uc003ynt.3_Silent_p.A3293A|CSMD3_uc011lhx.2_Silent_p.A3164A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3333	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTGCCATCTGCTTGACATA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			34	72					0	0	1	0	0	A	113267520	T	A	113267520	2	1	371	1	0	0	0	0	0	0	0	1	3946	1567	55	5		5	CSMD3	8	113267520	Silent	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08		113267520	33096502	13	6243											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112811016	112811033	+	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	CCCCCGGAGTCTCCTGGA	-													ccggggctgccgctcgccttCccccggagtctcctggaccc					rs72207945		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	uc011lwi.2	+	0	139_156	c.37_54delCCCCCGGAGTCTCCTGGA	c.(37-54)cccccggagtctcctggadel	p.PPESPG19del	PALM2-AKAP2_uc004bei.2_Intron|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron|PALM2-AKAP2_uc004bem.3_In_Frame_Del_p.PPESPG19del	NM_001198656	NP_001185585	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 3, mRNA.	373							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT	0.789													3	5	---	---	---	---						-	112811033	CCCCCGGAGTCTCCTGGA	-	112811016	7	5	371	1	0	1	0	1	0	0	0	0	11410	855	30	0		0	PALM2-AKAP2	9	112811016	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	TCGA-FY-A3R9-01A-11D-A21Z-08		112811016	28402415	14	6244											
MAMDC4	158056	broad.mit.edu	37	chr9	139751442	139751442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccccaggtgccagcaGcacccacggagtgtctcagc	12	17	1	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:139751442G>A	uc004cjs.3	+	15	1971	c.1921G>A	c.(1921-1923)Gca>Aca	p.A641T	MAMDC4_uc011mej.2_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	720	MAM 3.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGTGCCAGCAGCACCCACGGA	0.687													3	62					0	0	1	0	0	A	139751442	G	A	139751442	3	1	371	1	0	0	0	0	1	0	0	0	9204	971	34	2	1983	2	MAMDC4	9	139751442	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	26940426	139751442	1461989	15	6245											
SIDT2	51092	broad.mit.edu	37	chr11	117058406	117058406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactggggacctctcttacGgttaccagggtgagtgggcc	15	11	1	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr11:117058406G>A	uc001pqg.2	+	11	1191	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	SIDT2_uc010rxe.1_Missense_Mutation_p.G384S|SIDT2_uc001pqh.1_Missense_Mutation_p.G384S|SIDT2_uc001pqi.1_Missense_Mutation_p.G388S	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	384						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTCTCTTACGGTTACCAGGG	0.592													16	81					0	0	1	0	0	A	117058406	G	A	117058406	3	1	371	1	0	0	0	0	1	0	0	0	14303	1116	39	1	1196	1	SIDT2	11	117058406	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		117058406	17948110	16	6246											
KRR1	11103	broad.mit.edu	37	chr12	75902108	75902108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactctttcaagtaagcttcCctgtattttgggaacaaagt	7	9	2	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:75902108C>A	uc001sxt.3	-	1	245	c.204G>T	c.(202-204)agG>agT	p.R68S	KRR1_uc009zsc.3_Missense_Mutation_p.R68S|KRR1_uc010stx.2_Missense_Mutation_p.R68S	NM_007043	NP_008974	Q13601	KRR1_HUMAN	Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.	68					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTAAGCTTCCCTGTATTTTG	0.413													13	60					0	0	1	0	0	A	75902108	C	A	75902108	3	1	371	1	0	0	0	0	1	0	0	0	8446	622	22	4	977	4	KRR1	12	75902108	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		75902108	57949787	17	6247											
PRDM4	11108	broad.mit.edu	37	chr12	108128006	108128006	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttatttatgtgcagaaagaGactcatccgctgaatacaca	7	8	1	3			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:108128006G>T	uc001tmp.3	-	11	2824	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y	PRDM4_uc001tmq.3_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	796					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCAGAAAGAGACTCATCCGC	0.378													13	138					0	0	1	0	0	T	108128006	G	T	108128006	3	4	371	1	0	0	0	0	1	0	0	0	12459	942	33	4	22	4	PRDM4	12	108128006	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	32225898	108128006	25723889	18	6248											
TBC1D4	9882	broad.mit.edu	37	chr13	75930351	75930351	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctctggagactcccGgcagataaagccaaagtgat	11	11	1	3			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:75930351G>T	uc001vjl.1	-	3	1554	c.1207C>A	c.(1207-1209)Cgg>Agg	p.R403R	TBC1D4_uc010aer.2_Silent_p.R403R|TBC1D4_uc010aes.2_Silent_p.R403R	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	403	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAGACTCCCGGCAGATAAAG	0.413													5	45					0	0	1	0	0	T	75930351	G	T	75930351	2	4	371	1	0	0	0	0	0	0	0	1	15619	1115	39	4		4	TBC1D4	13	75930351	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		75930351	39239527	19	6249											
EXD2	55218	broad.mit.edu	37	chr14	69707775	69707775	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaccacaaccatcagaagctGctccggaaattcggggaaga	11	11	1	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr14:69707775G>C	uc001xky.3	+	9	2070	c.1824G>C	c.(1822-1824)ctG>ctC	p.L608L	EXD2_uc001xkt.3_Silent_p.L483L|EXD2_uc001xkv.3_Silent_p.L608L|EXD2_uc001xkw.3_Silent_p.L483L|EXD2_uc001xku.3_Silent_p.L353L|EXD2_uc001xkx.3_Silent_p.L483L|EXD2_uc010aqt.3_Silent_p.L608L|EXD2_uc010tte.2_Silent_p.L608L	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	483					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCAGAAGCTGCTCCGGAAAT	0.567													3	61					0	0	1	0	0	C	69707775	G	C	69707775	2	2	371	1	0	0	0	0	0	0	0	1	5298	1306	46	4		4	EXD2	14	69707775	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		69707775	37641765	20	6250											
SLCO3A1	28232	broad.mit.edu	37	chr15	92706034	92706034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggcatcgactccacctGcctgttctggagcacgttct	11	14	2	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:92706034G>A	uc002bqx.2	+	9	2003	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	SLCO3A1_uc002bqy.2_Missense_Mutation_p.C601Y|SLCO3A1_uc002bqz.1_Missense_Mutation_p.C543Y	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	601					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GACTCCACCTGCCTGTTCTGG	0.572													4	90					0	0	1	0	0	A	92706034	G	A	92706034	3	1	371	1	0	0	0	0	1	0	0	0	14728	1319	46	2	1840	2	SLCO3A1	15	92706034	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		92706034	9825358	21	6251											
PHLPP2	23035	broad.mit.edu	37	chr16	71683236	71683236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagttctccagatcccTccccctgcagcagtggatgt	12	13	1	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr16:71683236T>C	uc002fax.3	-	17	3535	c.3529A>G	c.(3529-3531)Agg>Ggg	p.R1177G	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.R1110G|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1177						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCAGATCCCTCCCCCTGCAG	0.542													3	108					0	0	1	0	0	C	71683236	T	C	71683236	3	2	371	1	0	0	0	0	1	0	0	0	11855	1550	54	3	446	3	PHLPP2	16	71683236	Missense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08		71683236	18671517	22	6252											
SREBF1	6720	broad.mit.edu	37	chr17	17721595	17721595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttgtggacagcagtgcGcagacttaggttctcctgct	12	10	1	1			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:17721595G>A	uc002grt.2	-	6	1446	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	SREBF1_uc002grp.2_5'UTR|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.R134C|SREBF1_uc002grs.2_Missense_Mutation_p.R364C|SREBF1_uc002gru.2_Missense_Mutation_p.R388C|SREBF1_uc010cpp.1_Missense_Mutation_p.R364C|SREBF1_uc010cpq.1_Missense_Mutation_p.R388C	NM_001005291	NP_001005291	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 1, mRNA.	388	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	p.L417L(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						ACAGCAGTGCGCAGACTTAGG	0.542													4	121					0	0	1	0	0	A	17721595	G	A	17721595	3	1	371	1	0	0	0	0	1	0	0	0	15140	1087	38	1	2337	1	SREBF1	17	17721595	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		17721595	63473615	23	6253											
RAB5C	5878	broad.mit.edu	37	chr17	40282394	40282394	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgtgaaactgtccctTgacaaagcggaggacgaggc	13	10	0	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:40282394T>G	uc010cxx.3	-	2	583	c.226A>C	c.(226-228)Aag>Cag	p.K76Q	RAB5C_uc002hyz.3_Missense_Mutation_p.K43Q|RAB5C_uc002hza.3_Missense_Mutation_p.K43Q	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	43					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AACTGTCCCTTGACAAAGCGG	0.547													23	94					0	0	1	0	0	G	40282394	T	G	40282394	3	3	371	1	0	0	0	0	1	0	0	0	12950	1821	63	5	543	5	RAB5C	17	40282394	Missense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08	22560799	40282394	40912816	24	6254											
FMNL1	752	broad.mit.edu	37	chr17	43318854	43318854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggccctggagctgaagGtggaggagctggaggagaag	19	8	0	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:43318854G>A	uc002iin.3	+	13	1638	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	FMNL1_uc002iiq.3_Missense_Mutation_p.V58M|FMNL1_uc010dag.3_5'Flank|FMNL1_uc021tyj.1_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	480	Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGAGCTGAAGGTGGAGGAGCT	0.682													3	4					0	0	1	0	0	A	43318854	G	A	43318854	3	1	371	1	0	0	0	0	1	0	0	0	5951	1261	44	2	1492	2	FMNL1	17	43318854	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	3036460	43318854	37876356	25	6255											
SIGLEC6	946	broad.mit.edu	37	chr19	52023341	52023341	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctttggacaattcctcactTgtgtatcttgatttctgagt	8	8	3	2			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr19:52023341T>A	uc002pwy.3	-	7	1565	c.1357A>T	c.(1357-1359)Aag>Tag	p.K453*	SIGLEC6_uc002pwz.3_Nonsense_Mutation_p.K437*|SIGLEC6_uc010ydb.2_Nonsense_Mutation_p.K401*|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	453					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATTCCTCACTTGTGTATCTTG	0.478													8	114					0	0	1	0	0	A	52023341	T	A	52023341	4	1	371	1	0	0	0	0	0	1	0	0	14312	1821	63	5	8	5	SIGLEC6	19	52023341	Nonsense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08		52023341	7105642	26	6256											
PCSK2	5126	broad.mit.edu	37	chr20	17445952	17445952	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttgcccttgccctcttgctCtctgcttcctgtatccagcc	6	17	2	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr20:17445952C>G	uc002wpn.3	+	0	1875	c.146C>G	c.(145-147)tCt>tGt	p.S49C	PCSK2_uc002wpl.3_Intron|PCSK2_uc002wpm.3_Intron|PCSK2_uc010zrm.2_Intron	NM_001201529	NP_001188458	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 2, mRNA.	397					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTCTTGCTCTCTGCTTCCT	0.522													6	21					0	0	1	0	0	G	17445952	C	G	17445952	3	3	371	1	0	0	0	0	1	0	0	0	11601	928	32	4		4	PCSK2	20	17445952	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		17445952	45579568	27	6257											
FHL1	2273	broad.mit.edu	37	chrX	135288575	135288575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccgcaggtccctccaGctacaaggtgggcaccatgg	12	16	0	0			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:135288575G>T	uc011mwa.1	+	1	120	c.71G>T	c.(70-72)aGc>aTc	p.S24I	FHL1_uc010nrz.2_5'UTR|FHL1_uc004ezq.2_5'UTR|FHL1_uc004ezo.3_5'UTR|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_5'UTR|FHL1_uc011mvy.1_5'UTR|FHL1_uc004ezn.2_5'UTR|FHL1_uc022ceu.1_5'UTR|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.S11I|FHL1_uc004ezr.2_5'Flank	NM_001159701	NP_001153173	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 5, mRNA.	0					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCTCCAGCTACAAGGTG	0.592													14	251					0	0	1	0	0	T	135288575	G	T	135288575	3	4	371	1	0	0	0	0	1	0	0	0	5878	971	34	4	103	4	FHL1	23	135288575	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		135288575	19981985	28	6258											
NEUROD6	63974	broad.mit.edu	37	chr7	31378167	31378167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatagaaggattcatacGcactgcaataattgtagggt	9	6	2	1			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr7:31378167G>A	uc003tch.3	-	1	1069	c.716C>T	c.(715-717)gCg>gTg	p.A239V	NEUROD6_uc022abi.1_Missense_Mutation_p.A239V	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	239					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGATTCATACGCACTGCAATA	0.483													4	115					0	0	1	0	0	A	31378167	G	A	31378167	3	1	372	1	0	0	0	0	1	0	0	0	10351	1087	38	1	301	1	NEUROD6	7	31378167	Missense_Mutation	SNP	G	TCGA-FY-A3RA-01A-11D-A21Z-08		31378167	127760496	1	6259											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				68	83					0	0	1	0	0	T	140453136	A	T	140453136	3	4	372	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3RA-01A-11D-A21Z-08	109074969	140453136	18685527	2	6260											
SBNO1	55206	broad.mit.edu	37	chr12	123805029	123805029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgataagttcatccagggTattaggggggaggtcttcag	14	6	3	0			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr12:123805029T>C	uc010tap.2	-	17	2617	c.2617A>G	c.(2617-2619)Acc>Gcc	p.T873A	SBNO1_uc010tao.2_Missense_Mutation_p.T872A|SBNO1_uc010taq.2_Intron	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	873							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCATCCAGGGTATTAGGGGGG	0.453													6	146					0	0	1	0	0	C	123805029	T	C	123805029	3	2	372	1	0	0	0	0	1	0	0	0	13862	1638	57	3	1620	3	SBNO1	12	123805029	Missense_Mutation	SNP	T	TCGA-FY-A3RA-01A-11D-A21Z-08		123805029	10046866	3	6261											
MYH6	4624	broad.mit.edu	37	chr14	23855756	23855756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccttctctgccagcttcCgctcgatctctgccttgatc	7	17	2	1			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr14:23855756C>T	uc001wjv.3	-	32	4798	c.4727G>A	c.(4726-4728)cGg>cAg	p.R1576Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1576					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGCCAGCTTCCGCTCGATCTC	0.647													133	212					0	0	1	0	0	T	23855756	C	T	23855756	3	4	372	1	0	0	0	0	1	0	0	0	10038	652	23	1	1120	1	MYH6	14	23855756	Missense_Mutation	SNP	C	TCGA-FY-A3RA-01A-11D-A21Z-08		23855756	83493784	4	6262											
MTMR8	55613	broad.mit.edu	37	chrX	63445422	63445422	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcttgattgagagcctGcttctcctctgtgtcagtgt	10	11	3	2			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chrX:63445422G>A	uc011mou.2	-	9	1324	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	MTMR8_uc004dvq.2_Nonsense_Mutation_p.Q28*|MTMR8_uc004dvr.2_Nonsense_Mutation_p.Q37*	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTGAGAGCCTGCTTCTCCTCT	0.507													3	31					0	0	1	0	0	A	63445422	G	A	63445422	4	1	372	1	0	0	0	0	0	1	0	0	9949	1328	46	2		2	MTMR8	23	63445422	Nonsense_Mutation	SNP	G	TCGA-FY-A3RA-01A-11D-A21Z-08		63445422	91825138	5	6263											
FBXO44	93611	broad.mit.edu	37	chr1	11718892	11718892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttccagccagacccggcGaccatccagcagaagagcga	10	16	0	3			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:11718892G>A	uc010oar.2	+	4	685	c.559G>A	c.(559-561)Gac>Aac	p.D187N	FBXO44_uc001ask.3_Missense_Mutation_p.D155N|FBXO44_uc010oas.2_Silent_p.A56A|FBXO44_uc001asm.3_Silent_p.A196A|FBXO44_uc001asl.3_Silent_p.A196A|FBXO44_uc001asn.3_Missense_Mutation_p.D155N	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACCCGGCGACCATCCAGC	0.672													53	42					0	0	1	0	0	A	11718892	G	A	11718892	3	1	373	1	0	0	0	0	1	0	0	0	5753	1058	37	1	602	1	FBXO44	1	11718892	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		11718892	237531729	1	6264											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			81	96					0	0	1	0	0	C	115256529	T	C	115256529	3	2	373	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08	103537637	115256529	133994092	2	6265											
PHGDH	26227	broad.mit.edu	37	chr1	120286533	120286533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggcagaggcaggcgtgcGgctgctgtcctaccagactt	14	13	0	2			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:120286533G>T	uc001ehz.3	+	11	1699	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	PHGDH_uc009whm.3_Missense_Mutation_p.R389L|PHGDH_uc001eib.3_Missense_Mutation_p.R457L	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	491					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GCAGGCGTGCGGCTGCTGTCC	0.582											OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	128					0	0	1	0	0	T	120286533	G	T	120286533	3	4	373	1	0	0	0	0	1	0	0	0	11841	1116	39	4	1518	4	PHGDH	1	120286533	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	5030004	120286533	128964088	3	6266											
SUSD4	55061	broad.mit.edu	37	chr1	223441914	223441914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatattgtgtaggtcgggGtaccggatcttgaatccttc	11	9	1	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:223441914G>A	uc001hnx.3	-	2	1099	c.465C>T	c.(463-465)taC>taT	p.Y155Y	SUSD4_uc001hny.4_Silent_p.Y155Y|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.Y155Y|SUSD4_uc010pux.1_Silent_p.Y84Y	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	155	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTAGGTCGGGGTACCGGATCT	0.448													3	76					0	0	1	0	0	A	223441914	G	A	223441914	2	1	373	1	0	0	0	0	0	0	0	1	15407	1256	44	2		2	SUSD4	1	223441914	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	103155381	223441914	25808707	4	6267											
CHRM3	1131	broad.mit.edu	37	chr1	240071606	240071606	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactttgtccaccccacgggCagttctcgaagctgcagcag	10	14	1	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:240071606C>A	uc001hyp.3	+	4	1634	c.855C>A	c.(853-855)ggC>ggA	p.G285G	CHRM3_uc021plc.1_Silent_p.G285G	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	285					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCCCACGGGCAGTTCTCGAA	0.517													16	21					0	0	1	0	0	A	240071606	C	A	240071606	2	1	373	1	0	0	0	0	0	0	0	1	3378	697	25	4		4	CHRM3	1	240071606	Silent	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	16629692	240071606	9179015	5	6268											
CNGA3	1261	broad.mit.edu	37	chr2	98999896	98999896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaacaccagcaacaacacGgaggaggagtaagtacccac	9	12	0	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:98999896G>A	uc010fij.3	+	4	594	c.453G>A	c.(451-453)acG>acA	p.T151T	CNGA3_uc002syt.3_Silent_p.T147T|CNGA3_uc002syu.3_Intron			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	147					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCAACAACACGGAGGAGGAGT	0.587													15	81					0	0	1	0	0	A	98999896	G	A	98999896	2	1	373	1	0	0	0	0	0	0	0	1	3598	1103	39	1		1	CNGA3	2	98999896	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		98999896	144199477	6	6269											
CCDC108	255101	broad.mit.edu	37	chr2	219890815	219890815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtggcctcgtgcccGcaccgtcaggcaccaggatg	13	14	1	0	rs141456868	by1000genomes	TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:219890815G>A	uc002vjl.1	-	13	2362	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	760						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGTGCCCGCACCGTCAGG	0.592													4	89					0	0	1	0	0	A	219890815	G	A	219890815	3	1	373	1	0	0	0	0	1	0	0	0	2743	1086	38	1	3587	1	CCDC108	2	219890815	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	120890919	219890815	23308558	7	6270											
COL6A3	1293	broad.mit.edu	37	chr2	238280890	238280890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaggtagtcaaccagcCtctctatgagggtgcgaacg	12	12	2	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:238280890C>T	uc002vwl.2	-	8	4055	c.3770G>A	c.(3769-3771)aGg>aAg	p.R1257K	COL6A3_uc002vwo.2_Missense_Mutation_p.R1051K|COL6A3_uc010znj.1_Missense_Mutation_p.R650K|COL6A3_uc002vwq.3_Missense_Mutation_p.R1051K|COL6A3_uc002vwr.3_Missense_Mutation_p.R850K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1257	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCAACCAGCCTCTCTATGAG	0.582													5	52					0	0	1	0	0	T	238280890	C	T	238280890	3	4	373	1	0	0	0	0	1	0	0	0	3701	681	24	2	5954	2	COL6A3	2	238280890	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	18390075	238280890	4918483	8	6271											
WDFY3	23001	broad.mit.edu	37	chr4	85639709	85639709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggactcgagcacagcgGtacatgtgttggatctataa	11	10	1	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr4:85639709G>A	uc003hpd.3	-	47	8028	c.7620C>T	c.(7618-7620)taC>taT	p.Y2540Y	WDFY3_uc003hpe.1_Silent_p.Y151Y	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2540						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGCACAGCGGTACATGTGTT	0.408													3	56					0	0	1	0	0	A	85639709	G	A	85639709	2	1	373	1	0	0	0	0	0	0	0	1	17267	1256	44	2		2	WDFY3	4	85639709	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		85639709	105514567	9	6272											
KIAA0947	23379	broad.mit.edu	37	chr5	5462371	5462371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagacattgtgagagaagCtgcagtgcagggagatgggc	16	7	0	4			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:5462371C>T	uc003jdm.4	+	12	3146	c.2924C>T	c.(2923-2925)gCt>gTt	p.A975V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	975										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTGAGAGAAGCTGCAGTGCAG	0.478													9	11					0	0	1	0	0	T	5462371	C	T	5462371	3	4	373	1	0	0	0	0	1	0	0	0	8202	797	28	2	2974	2	KIAA0947	5	5462371	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08		5462371	175452889	10	6273											
DDX4	54514	broad.mit.edu	37	chr5	55088550	55088550	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttttggtccagaaatgaagAagttaatttcttgcccagga	10	6	1	3			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:55088550A>T	uc003jqg.4	+	16	1483	c.1384A>T	c.(1384-1386)Aag>Tag	p.K462*	DDX4_uc010ivz.3_Nonsense_Mutation_p.K442*|DDX4_uc003jqh.4_Nonsense_Mutation_p.K428*|DDX4_uc003jqj.3_Nonsense_Mutation_p.K313*	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	462	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAAATGAAGAAGTTAATTTC	0.368													31	34					0	0	1	0	0	T	55088550	A	T	55088550	4	4	373	1	0	0	0	0	0	1	0	0	4360	247	9	5	1487	5	DDX4	5	55088550	Nonsense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08	49626179	55088550	125826710	11	6274											
KIF4B	285643	broad.mit.edu	37	chr5	154394056	154394056	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actcccagtcgtcccgatctCatgccatctttacaatctcc	4	17	3	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:154394056C>T	uc010jih.1	+	0	797	c.637C>T	c.(637-639)Cat>Tat	p.H213Y		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	213	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.S212S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCCCGATCTCATGCCATCTT	0.468													40	34					0	0	1	0	0	T	154394056	C	T	154394056	3	4	373	1	0	0	0	0	1	0	0	0	8304	826	29	2	639	2	KIF4B	5	154394056	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	99305506	154394056	26521204	12	6275											
ADAMTS2	9509	broad.mit.edu	37	chr5	178579222	178579222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggttgtcaggatggctgCaccacagctgcttgcagggg	17	9	1	0			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:178579222C>T	uc003mjw.3	-	9	1652	c.1550G>A	c.(1549-1551)tGc>tAc	p.C517Y	ADAMTS2_uc011dgm.2_Missense_Mutation_p.C517Y	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	517	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGATGGCTGCACCACAGCTG	0.607													15	19					0	0	1	0	0	T	178579222	C	T	178579222	3	4	373	1	0	0	0	0	1	0	0	0	265	710	25	2	2212	2	ADAMTS2	5	178579222	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	24185166	178579222	2336038	13	6276											
CRISP2	7180	broad.mit.edu	37	chr6	49665595	49665595	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggacaatattggcaaacatAgtagtattttagactatctt	7	5	1	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:49665595A>T	uc003ozm.2	-	6	692	c.493T>A	c.(493-495)Tat>Aat	p.Y165N	CRISP2_uc003ozn.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozr.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozo.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozp.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozq.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozl.2_Missense_Mutation_p.Y165N	NM_003296	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 1, mRNA.	165						extracellular space		p.Y165C(1)|p.Y164C(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGGCAAACATAGTAGTATTTT	0.328													62	92					0	0	1	0	0	T	49665595	A	T	49665595	3	4	373	1	0	0	0	0	1	0	0	0	3880	420	15	5	250	5	CRISP2	6	49665595	Missense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		49665595	121449472	14	6277											
CYB5R4	51167	broad.mit.edu	37	chr6	84634311	84634311	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattccaaggaaagatacaGgtatgctgtgttcttttgtt	9	5	1	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:84634311G>A	uc003pkf.3	+	10	946	c.814_splice	c.e10+1	p.G272_splice		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	272					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GAAAGATACAGGTATGCTGTG	0.348													68	98					0	0	1	0	0	A	84634311	G	A	84634311	5	1	373	1	0	0	0	0	0	0	1	0	4129	1014	35	2	852	2	CYB5R4	6	84634311	Splice_Site	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	34968716	84634311	86480756	15	6278											
HBS1L	10767	broad.mit.edu	37	chr6	135287541	135287541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctctttaaagtcttTatatagctcaagagctattg	6	10	3	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:135287541T>C	uc003qez.2	-	16	2176	c.1969A>G	c.(1969-1971)Aaa>Gaa	p.K657E	HBS1L_uc003qey.2_Missense_Mutation_p.K493E|HBS1L_uc011ecy.1_Missense_Mutation_p.K381E|HBS1L_uc011ecz.1_Missense_Mutation_p.K493E|HBS1L_uc011eda.1_Missense_Mutation_p.K615E	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	657					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTAAAGTCTTTATATAGCTCA	0.363													6	160					0	0	1	0	0	C	135287541	T	C	135287541	3	2	373	1	0	0	0	0	1	0	0	0	6987	1763	61	3	93	3	HBS1L	6	135287541	Missense_Mutation	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08	50653230	135287541	35827526	16	6279											
ESCO2	157570	broad.mit.edu	37	chr8	27634109	27634109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaataagtggtacctcaAtccactggagagaaagctga	9	9	1	2			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:27634109A>G	uc003xgg.3	+	2	367	c.284A>G	c.(283-285)aAt>aGt	p.N95S	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Missense_Mutation_p.N95S	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	95					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGGTACCTCAATCCACTGGAG	0.358									SC Phocomelia syndrome				7	44					0	0	1	0	0	G	27634109	A	G	27634109	3	3	373	1	0	0	0	0	1	0	0	0	5249	101	4	3	290	3	ESCO2	8	27634109	Missense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		27634109	118729913	17	6280											
CA13	377677	broad.mit.edu	37	chr8	86178909	86178909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgaaccagatggactgGctgtcttgggagtgttttta	12	7	2	2			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:86178909G>A	uc003ydg.2	+	3	769	c.427G>A	c.(427-429)Gct>Act	p.A143T	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	143					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						AGATGGACTGGCTGTCTTGGG	0.418													38	38					0	0	1	0	0	A	86178909	G	A	86178909	3	1	373	1	0	0	0	0	1	0	0	0	2514	1203	42	2	441	2	CA13	8	86178909	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	58544800	86178909	60185113	18	6281											
TUBGCP2	10844	broad.mit.edu	37	chr10	135098942	135098942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagatctggcaggtgccCgagcagccgacccgcacctg	14	14	1	2			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr10:135098942C>T	uc009ybk.1	-	11	2097	c.1740G>A	c.(1738-1740)tcG>tcA	p.S580S	TUBGCP2_uc001lmf.1_Intron|TUBGCP2_uc001lmg.1_Intron|TUBGCP2_uc010qvc.1_Intron|TUBGCP2_uc010qvd.1_Intron|TUBGCP2_uc001lmh.1_Intron	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	580					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGCAGGTGCCCGAGCAGCCGA	0.647													13	14					0	0	1	0	0	T	135098942	C	T	135098942	2	4	373	1	0	0	0	0	0	0	0	1	16763	667	23	1		1	TUBGCP2	10	135098942	Silent	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08		135098942	435805	19	6282											
CALCB	797	broad.mit.edu	37	chr11	15096620	15096620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggtctgccctggagAgcagcccagacccggccaca	11	17	1	2			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:15096620A>G	uc001mlx.1	+	2	173	c.100A>G	c.(100-102)Agc>Ggc	p.S34G	CALCB_uc009ygr.1_Missense_Mutation_p.S34G	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	34					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGCCCTGGAGAGCAGCCCAGA	0.617											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	57					0	0	1	0	0	G	15096620	A	G	15096620	3	3	373	1	0	0	0	0	1	0	0	0	2576	304	11	3	106	3	CALCB	11	15096620	Missense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		15096620	119909896	20	6283											
KDM2A	22992	broad.mit.edu	37	chr11	66995593	66995593	+	Frame_Shift_Del	DEL	C	C	-													gtactgcataaccaaccgttCccacctaactaaggaatttc							TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:66995593delC	uc001ojw.3	+	10	1907	c.1043delC	c.(1042-1044)tccfs	p.S348fs	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Frame_Shift_Del_p.S42fs	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACCAACCGTTCCCACCTAACT	0.453													70	88	---	---	---	---						-	66995593	C	-	66995593	7	5	373	1	0	1	0	1	0	0	0	0	8124	855	30	0	1081	0	KDM2A	11	66995593	Frame_Shift_Del	DEL	C	TCGA-FY-A3W9-01A-11D-A22D-08	51898973	66995593	68010923	21	6284											
SACS	26278	broad.mit.edu	37	chr13	23904954	23904954	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatttcattctgcaaaTgtttaaaaacttcattggca	6	6	3	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr13:23904954T>A	uc001uon.2	-	9	13650	c.13061A>T	c.(13060-13062)cAt>cTt	p.H4354L	SACS_uc001uoo.2_Missense_Mutation_p.H4207L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4354	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTCTGCAAATGTTTAAAAAC	0.383													40	6					0	0	1	0	0	A	23904954	T	A	23904954	3	1	373	1	0	0	0	0	1	0	0	0	13804	1464	51	5	682	5	SACS	13	23904954	Missense_Mutation	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08		23904954	91264924	22	6285											
SNX22	79856	broad.mit.edu	37	chr15	64446231	64446231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctagatatggggctacaGggctgggttgtgggctttgc	17	7	0	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr15:64446231G>A	uc002amz.1	+	4	465	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_Intron|SNX22_uc002anc.1_Intron|SNX22_uc021sow.1_5'Flank	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	Homo sapiens sorting nexin 22 (SNX22), mRNA.	163					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						TGGGGCTACAGGGCTGGGTTG	0.612											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	103					0	0	1	0	0	A	64446231	G	A	64446231	3	1	373	1	0	0	0	0	1	0	0	0	14894	1015	35	2		2	SNX22	15	64446231	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		64446231	38085161	23	6286											
PKD1	5310	broad.mit.edu	37	chr16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgacgagcccccgcacgcGccgcttcaccgtcacattga	10	18	2	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr16:2160529G>A	uc002cos.1	-	14	4848	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1547C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1547	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647													3	104					0	0	1	0	0	A	2160529	G	A	2160529	3	1	373	1	0	0	0	0	1	0	0	0	11963	1087	38	1	8400	1	PKD1	16	2160529	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		2160529	88194224	24	6287											
SPHK1	8877	broad.mit.edu	37	chr17	74383472	74383472	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatgcccctacttggtAtatgtgcccgtggtcgcctt	10	11	0	1			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr17:74383472A>G	uc002jrj.2	+	5	1715	c.1218A>G	c.(1216-1218)gtA>gtG	p.V406V	SPHK1_uc002jrf.1_Silent_p.V320V|SPHK1_uc002jrg.1_Silent_p.V269V|SPHK1_uc002jrh.2_Silent_p.V334V|SPHK1_uc002jri.2_Silent_p.V320V|SPHK1_uc002jrk.3_Silent_p.V320V	NM_182965	NP_001136074	Q9NYA1	SPHK1_HUMAN	Homo sapiens sphingosine kinase 1 (SPHK1), transcript variant 2, mRNA.	320					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|D-erythro-sphingosine kinase activity|DNA binding|calmodulin binding|diacylglycerol kinase activity|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						CCTACTTGGTATATGTGCCCG	0.592													25	31					0	0	1	0	0	G	74383472	A	G	74383472	2	3	373	1	0	0	0	0	0	0	0	1	15045	436	16	3		3	SPHK1	17	74383472	Silent	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		74383472	6811738	25	6288											
DBP	1628	broad.mit.edu	37	chr19	49139149	49139149	+	Frame_Shift_Del	DEL	C	C	-													ggaccctccgcccaccactgCcccagccggggcatccgccg							TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr19:49139149delC	uc002pjx.4	-	1	626	c.238delG	c.(238-240)gcafs	p.A80fs	SEC1_uc010xzv.2_5'Flank|SEC1_uc002pka.3_5'Flank|SEC1_uc010xzw.2_5'Flank|SEC1_uc010ema.3_5'Flank|DBP_uc002pjy.2_Frame_Shift_Del_p.A80fs|DBP_uc010elz.1_Frame_Shift_Del_p.A80fs	NM_001352	NP_001343	Q10586	DBP_HUMAN	Homo sapiens D site of albumin promoter (albumin D-box) binding protein (DBP), mRNA.	80					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCCACCACTGCCCCAGCCGGG	0.761													2	4	---	---	---	---						-	49139149	C	-	49139149	7	5	373	1	0	1	0	1	0	0	0	0	4256	739	26	0	751	0	DBP	19	49139149	Frame_Shift_Del	DEL	C	TCGA-FY-A3W9-01A-11D-A22D-08		49139149	9989834	26	6289											
RRBP1	6238	broad.mit.edu	37	chr20	17639352	17639352	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccctggacagaagctgactCtgtctttttaccctgattgg	10	11	2	3			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr20:17639352C>A	uc021waw.1	-	0	1801	c.1801G>T	c.(1801-1803)Gag>Tag	p.E601*	RRBP1_uc002wpu.3_5'UTR|RRBP1_uc002wpw.1_Intron|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Intron			Q9P2E9	RRBP1_HUMAN	SubName: Full=RRBP1 protein; Flags: Fragment;	601	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GAAGCTGACTCTGTCTTTTTA	0.517													4	49					0	0	1	0	0	A	17639352	C	A	17639352	4	1	373	1	0	0	0	0	0	1	0	0	13678	928	32	4		4	RRBP1	20	17639352	Nonsense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08		17639352	45386168	27	6290											
GGA1	26088	broad.mit.edu	37	chr22	38013055	38013055	+	Frame_Shift_Del	DEL	G	G	-													ccgccatgtgacgacaccaaGggaggccaagactgaggttc							TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr22:38013055delG	uc003atb.3	+	2	642	c.255delG	c.(253-255)aagfs	p.K85fs	GGA1_uc003atc.3_Intron|GGA1_uc003ate.3_Intron|GGA1_uc003atd.3_Intron|GGA1_uc003atf.3_Intron	NM_001001561	NP_001001561	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 3, mRNA.	0	VHS.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACGACACCAAGGGAGGCCAAG	0.622													2	4	---	---	---	---						-	38013055	G	-	38013055	7	5	373	1	0	1	0	1	0	0	0	0	6352	991	35	0	265	0	GGA1	22	38013055	Frame_Shift_Del	DEL	G	TCGA-FY-A3W9-01A-11D-A22D-08		38013055	13291511	28	6291											
POLQ	10721	broad.mit.edu	37	chr3	121179063	121179063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaagctgagagtagtcaGcagccagtattgaaccacct	10	10	2	2			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr3:121179063G>A	uc003eee.4	-	24	7115	c.6986C>T	c.(6985-6987)gCt>gTt	p.A2329V	POLQ_uc003eed.3_Missense_Mutation_p.A1501V	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2329					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAGTAGTCAGCAGCCAGTAT	0.393								DNA polymerases (catalytic subunits)					3	67					0	0	1	0	0	A	121179063	G	A	121179063	3	1	374	1	0	0	0	0	1	0	0	0	12208	971	34	2	810	2	POLQ	3	121179063	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		121179063	76843367	1	6292											
TBC1D14	57533	broad.mit.edu	37	chr4	7032081	7032081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcattgcagaaagacagcCgggaaatggagaagggaagt	15	6	0	3			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr4:7032081C>T	uc011bwg.2	+	13	2123	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	TBC1D14_uc003gjs.4_Missense_Mutation_p.R682W|TBC1D14_uc010idh.3_Missense_Mutation_p.R402W|TBC1D14_uc011bwh.2_Missense_Mutation_p.R329W|TBC1D14_uc003gju.4_Missense_Mutation_p.R173W	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	682						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GAAAGACAGCCGGGAAATGGA	0.577													29	58					0	0	1	0	0	T	7032081	C	T	7032081	3	4	374	1	0	0	0	0	1	0	0	0	15600	643	23	1	2101	1	TBC1D14	4	7032081	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		7032081	184122195	2	6293											
TRAF1	7185	broad.mit.edu	37	chr9	123673658	123673658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccacaggccgactcatggCaccgcctggtgacattggtg	13	13	1	1			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr9:123673658C>A	uc004bku.2	-	5	1411	c.839G>T	c.(838-840)tGc>tTc	p.C280F	TRAF1_uc011lyg.2_Missense_Mutation_p.C158F|TRAF1_uc010mvl.2_Missense_Mutation_p.C280F	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	280	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CGACTCATGGCACCGCCTGGT	0.637													3	37					0	0	1	0	0	A	123673658	C	A	123673658	3	1	374	1	0	0	0	0	1	0	0	0	16434	710	25	4	423	4	TRAF1	9	123673658	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		123673658	17539773	3	6294											
LYZL2	119180	broad.mit.edu	37	chr10	30915131	30915131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgtagtcgatgctgccGtcatccaggaccgtctgggc	13	13	2	0			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr10:30915131G>A	uc001ivk.3	-	2	352	c.339C>T	c.(337-339)gaC>gaT	p.D113D		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	Homo sapiens lysozyme-like 2 (LYZL2), mRNA.	67					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CGATGCTGCCGTCATCCAGGA	0.587													24	53					0	0	1	0	0	A	30915131	G	A	30915131	2	1	374	1	0	0	0	0	0	0	0	1	9132	1136	40	1		1	LYZL2	10	30915131	Silent	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		30915131	104619616	4	6295											
PIAS2	9063	broad.mit.edu	37	chr18	44470887	44470887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggattttaatctgaaccGcagggctgcagccgctcttc	10	13	2	1			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:44470887G>A	uc002lck.3	-	1	342	c.155C>T	c.(154-156)gCg>gTg	p.A52V	PIAS2_uc010dnp.3_5'UTR|PIAS2_uc010xda.2_Intron|PIAS2_uc002lcl.3_Missense_Mutation_p.A52V|PIAS2_uc002lcm.3_Missense_Mutation_p.A52V|PIAS2_uc002lcn.1_Missense_Mutation_p.A56V	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	52					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AATCTGAACCGCAGGGCTGCA	0.448													3	53					0	0	1	0	0	A	44470887	G	A	44470887	3	1	374	1	0	0	0	0	1	0	0	0	11876	1087	38	1	1837	1	PIAS2	18	44470887	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		44470887	33606361	5	6296											
SERPINB3	6317	broad.mit.edu	37	chr18	61309020	61309020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattgatacgtcttttctcCgaagagcttgttggcgatct	9	8	3	2			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:61309020C>T	uc002ljf.3	-	3	411	c.325G>A	c.(325-327)Gga>Aga	p.G109R	SERPINB3_uc002lje.3_Missense_Mutation_p.G109R|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	109					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.G109*(1)|p.G109V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTCTTTTCTCCGAAGAGCTTG	0.413													74	116					0	0	1	0	0	T	61309020	C	T	61309020	3	4	374	1	0	0	0	0	1	0	0	0	14102	661	23	1		1	SERPINB3	18	61309020	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08	16838133	61309020	16768228	6	6297											
BCL2L12	83596	broad.mit.edu	37	chr19	50170383	50170383	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgagtcccctcggccttgctCtctgcccatccgcccctgct	8	20	1	1			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:50170383C>G	uc002ppa.3	+	2	1149	c.467C>G	c.(466-468)tCt>tGt	p.S156C	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_5'Flank|IRF3_uc021uxq.1_5'Flank|IRF3_uc002pot.2_5'Flank|IRF3_uc021uxr.1_5'Flank|IRF3_uc021uxs.1_5'Flank|IRF3_uc002pow.3_5'Flank|IRF3_uc021uxo.1_5'Flank|IRF3_uc002pou.3_5'Flank|IRF3_uc010end.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.S155C	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	156					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CGGCCTTGCTCTCTGCCCATC	0.567													20	343					0	0	1	0	0	G	50170383	C	G	50170383	3	3	374	1	0	0	0	0	1	0	0	0	1370	913	32	4	477	4	BCL2L12	19	50170383	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		50170383	8958600	7	6298											
CLIC6	54102	broad.mit.edu	37	chr21	36088676	36088676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgactggcatctggAgatacttgaataatgcttat	9	6	1	4			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr21:36088676A>G	uc010gmt.1	+	6	2011	c.2011A>G	c.(2011-2013)Aga>Gga	p.R671G	CLIC6_uc002yuf.1_Missense_Mutation_p.R653G	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	671	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGGCATCTGGAGATACTTGAA	0.363													6	93					0	0	1	0	0	G	36088676	A	G	36088676	3	3	374	1	0	0	0	0	1	0	0	0	3530	296	11	3	1979	3	CLIC6	21	36088676	Missense_Mutation	SNP	A	TCGA-FY-A3WA-01A-11D-A22D-08		36088676	12041219	8	6299											
CD38	952	broad.mit.edu	37	chr4	15841656	15841656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttctattttagcacttttGggagtgtggaagtccataat	9	6	2	0			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr4:15841656G>T	uc003gol.1	+	5	774	c.667G>T	c.(667-669)Ggg>Tgg	p.G223W	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	223					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TAGCACTTTTGGGAGTGTGGA	0.463													19	178					0	0	1	0	0	T	15841656	G	T	15841656	3	4	375	1	0	0	0	0	1	0	0	0	3009	1348	47	4	689	4	CD38	4	15841656	Missense_Mutation	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08		15841656	175312620	1	6300											
MMD2	221938	broad.mit.edu	37	chr7	4947083	4947083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaggtacctccagatggCatagtagtgggtaccagcac	12	9	0	2			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr7:4947083C>T	uc003sno.4	-	6	953	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Missense_Mutation_p.A229T|MMD2_uc010ksq.3_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	253						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CTCCAGATGGCATAGTAGTGG	0.552													10	68					0	0	1	0	0	T	4947083	C	T	4947083	3	4	375	1	0	0	0	0	1	0	0	0	9644	710	25	2	59	2	MMD2	7	4947083	Missense_Mutation	SNP	C	TCGA-FY-A40K-01A-11D-A23M-08		4947083	154191580	2	6301											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	48					0	0	1	0	0	T	140453136	A	T	140453136	3	4	375	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A40K-01A-11D-A23M-08	135506053	140453136	18685527	3	6302											
CYP2C19	1557	broad.mit.edu	37	chr10	96535189	96535189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatggaaggagatccggcGtttctccctcatgacgctgc	13	11	2	3	rs141774245	byFrequency	TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr10:96535189G>A	uc010qnz.2	+	2	374	c.374G>A	c.(373-375)cGt>cAt	p.R125H	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R103H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	125					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R125H(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGATCCGGCGTTTCTCCCTC	0.507													49	90					0	0	1	0	0	A	96535189	G	A	96535189	3	1	375	1	0	0	0	0	1	0	0	0	4166	1145	40	1	384	1	CYP2C19	10	96535189	Missense_Mutation	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08		96535189	38999558	4	6303											
RTTN	25914	broad.mit.edu	37	chr18	67872889	67872889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgatgagccctgccagGaccatctcgtcccgtcaatc	8	16	2	2			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr18:67872889G>A	uc002lkp.2	-	0	74	c.6C>T	c.(4-6)gtC>gtT	p.V2V	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.V2V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	2							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCCCTGCCAGGACCATCTCGT	0.602													17	27					0	0	1	0	0	A	67872889	G	A	67872889	2	1	375	1	0	0	0	0	0	0	0	1	13737	1161	41	2		2	RTTN	18	67872889	Silent	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08		67872889	10204359	5	6304											
ZC3H15	55854	broad.mit.edu	37	chr2	187351112	187351113	+	Frame_Shift_Ins	INS	-	-	C													tgccatctgtctccgcaatgINSccccccaagaaacaggctca							TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr2:187351112_187351113insC	uc002upo.3	+	0	228_229	c.3_4insC	c.(1-6)atgcccfs	p.M1fs		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	1						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TCTCCGCAATGCCCCCCAAGAA	0.609													2	4	---	---	---	---						C	187351113	-	C	187351112	7	5	376	1	0	1	1	0	0	0	0	0	17564	1319	46	0	5	0	ZC3H15	2	187351112	Frame_Shift_Ins	INS	-	TCGA-FY-A4B3-01A-11D-A23U-08		187351112	55848261	1	6305											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237086	5237086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttctttttaagatcaGgacttatgcaaactctactg	6	7	3	1			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr5:5237086G>A	uc003jdl.3	+	13	2166	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q	ADAMTS16_uc003jdk.1_Silent_p.Q676Q|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	676	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q676E(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTTAAGATCAGGACTTATGCA	0.353													7	31					0	0	1	0	0	A	5237086	G	A	5237086	2	1	376	1	0	0	0	0	0	0	0	1	261	991	35	2		2	ADAMTS16	5	5237086	Silent	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		5237086	175678174	2	6306											
CDH6	1004	broad.mit.edu	37	chr5	31305327	31305327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatacccttaaagtggaagCctccaatccttatgttgagc	8	10	0	1			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr5:31305327C>A	uc003jhe.2	+	6	1406	c.1046C>A	c.(1045-1047)gCc>gAc	p.A349D	CDH6_uc003jhd.2_Missense_Mutation_p.A349D	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	349	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAAGTGGAAGCCTCCAATCCT	0.463													18	27					0	0	1	0	0	A	31305327	C	A	31305327	3	1	376	1	0	0	0	0	1	0	0	0	3114	739	26	4	1068	4	CDH6	5	31305327	Missense_Mutation	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08	26068241	31305327	149609933	3	6307											
GPR116	221395	broad.mit.edu	37	chr6	46826302	46826302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatgaaaaccaggcgaTagaacagcatgaggcccagt	12	9	0	4			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr6:46826302T>C	uc003oyo.3	-	16	3627	c.3338A>G	c.(3337-3339)tAt>tGt	p.Y1113C	GPR116_uc011dwj.1_Missense_Mutation_p.Y668C|GPR116_uc011dwk.1_Missense_Mutation_p.Y542C|GPR116_uc003oyp.3_Missense_Mutation_p.Y971C|GPR116_uc003oyq.3_Missense_Mutation_p.Y1113C|GPR116_uc010jzi.1_Missense_Mutation_p.Y785C	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AACCAGGCGATAGAACAGCAT	0.517													3	35					0	0	1	0	0	C	46826302	T	C	46826302	3	2	376	1	0	0	0	0	1	0	0	0	6633	1406	49	3	722	3	GPR116	6	46826302	Missense_Mutation	SNP	T	TCGA-FY-A4B3-01A-11D-A23U-08		46826302	124288765	4	6308											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				6	21					0	0	1	0	0	T	140453136	A	T	140453136	3	4	376	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A4B3-01A-11D-A23U-08		140453136	18685527	5	6309											
EIF3E	3646	broad.mit.edu	37	chr8	109215251	109215251	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaagtttcttctcaatattCatggccaacatctggcttct	5	10	5	0			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr8:109215251C>T	uc003ymu.3	-	11	1288	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	EIF3E_uc003ymt.3_Missense_Mutation_p.M371I	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	420	Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TCTCAATATTCATGGCCAACA	0.398													13	20					0	0	1	0	0	T	109215251	C	T	109215251	3	4	376	1	0	0	0	0	1	0	0	0	5015	826	29	2	85	2	EIF3E	8	109215251	Missense_Mutation	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08		109215251	37148771	6	6310											
C9orf9	11092	broad.mit.edu	37	chr9	135763731	135763731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggcccggaaccactaCggcggcgtggtcagcctcat	14	14	2	0			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr9:135763731C>T	uc004cbx.1	+	3	513	c.402C>T	c.(400-402)taC>taT	p.Y134Y	C9orf9_uc004cby.1_Silent_p.Y134Y|C9orf9_uc004cbz.1_Silent_p.Y134Y	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA.	134								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GGAACCACTACGGCGGCGTGG	0.607													18	48					0	0	1	0	0	T	135763731	C	T	135763731	2	4	376	1	0	0	0	0	0	0	0	1	2504	547	19	1		1	C9orf9	9	135763731	Silent	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08		135763731	5449700	7	6311											
AGPAT2	10555	broad.mit.edu	37	chr9	139581702	139581702	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggcggacaccgtgaagcaCagcgcgcagtacagggcgac	15	13	0	1			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr9:139581702C>A	uc004cii.1	-	0	210	c.108G>T	c.(106-108)ctG>ctT	p.L36L	AGPAT2_uc004cij.1_Silent_p.L36L	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	36					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.L36Q(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CCGTGAAGCACAGCGCGCAGT	0.726													7	35					0	0	1	0	0	A	139581702	C	A	139581702	2	1	376	1	0	0	0	0	0	0	0	1	387	465	17	4		4	AGPAT2	9	139581702	Silent	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08	3817971	139581702	1631729	8	6312											
CCDC67	159989	broad.mit.edu	37	chr11	93088558	93088558	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acttctccttgtgaggctgaGcttcaggaattaatggaaca	10	8	2	2			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr11:93088558G>C	uc001pdq.3	+	2	151	c.51G>C	c.(49-51)gaG>gaC	p.E17D	CCDC67_uc001pdo.1_Missense_Mutation_p.E17D|CCDC67_uc001pdp.3_Missense_Mutation_p.E17D	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	17										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GTGAGGCTGAGCTTCAGGAAT	0.378													8	52					0	0	1	0	0	C	93088558	G	C	93088558	3	2	376	1	0	0	0	0	1	0	0	0	2839	962	34	4	57	4	CCDC67	11	93088558	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		93088558	41917958	9	6313											
PPL	5493	broad.mit.edu	37	chr16	4935111	4935111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcactttccgccttgGggtctggccgcacgatctcc	9	17	3	0			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr16:4935111G>A	uc002cyd.1	-	21	3635	c.3545C>T	c.(3544-3546)cCc>cTc	p.P1182L		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1182					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTCCGCCTTGGGGTCTGGCCG	0.622													31	64					0	0	1	0	0	A	4935111	G	A	4935111	3	1	376	1	0	0	0	0	1	0	0	0	12334	1232	43	2	1729	2	PPL	16	4935111	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		4935111	85419642	10	6314											
PRR12	57479	broad.mit.edu	37	chr19	50097869	50097869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagtccttcctggcaaAcaggtaagcccagcgccggc	11	16	0	0			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr19:50097869A>G	uc002poo.4	+	2	358	c.358A>G	c.(358-360)Aca>Gca	p.T120A		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	534	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCCTGGCAAACAGGTAAGCC	0.667													16	36					0	0	1	0	0	G	50097869	A	G	50097869	3	3	376	1	0	0	0	0	1	0	0	0	12584	43	2	3	368	3	PRR12	19	50097869	Missense_Mutation	SNP	A	TCGA-FY-A4B3-01A-11D-A23U-08		50097869	9031114	11	6315											
KCNC3	3748	broad.mit.edu	37	chr19	50827018	50827018	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttggagctgaggcccgagaGgcccacctcgagatagaagg	15	11	0	4			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr19:50827018G>C	uc002pru.1	-	1	1487	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	KCNC3_uc002prt.1_Missense_Mutation_p.L34V	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	398					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AGGCCCGAGAGGCCCACCTCG	0.597													5	46					0	0	1	0	0	C	50827018	G	C	50827018	3	2	376	1	0	0	0	0	1	0	0	0	8016	1000	35	4	1093	4	KCNC3	19	50827018	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08	729149	50827018	8301965	12	6316											
UNC5A	90249	broad.mit.edu	37	chr5	176304656	176304656	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggagcccagccctgaCagctggagcctgcgcctcaa	14	14	1	1			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr5:176304656C>G	uc003mey.3	+	9	1779	c.1587C>G	c.(1585-1587)gaC>gaG	p.D529E		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	529	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCCCTGACAGCTGGAGCC	0.647													3	35					0	0	1	0	0	G	176304656	C	G	176304656	3	3	377	1	0	0	0	0	1	0	0	0	16988	477	17	4	1625	4	UNC5A	5	176304656	Missense_Mutation	SNP	C	TCGA-GE-A2C6-01A-11D-A17V-08		176304656	4610604	1	6317											
TRERF1	55809	broad.mit.edu	37	chr6	42236552	42236552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcatctgttgcatgtgCtgtgacagcatctgtggggc	14	9	2	1			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr6:42236552C>T	uc003ose.2	-	4	1340	c.777G>A	c.(775-777)caG>caA	p.Q259Q	TRERF1_uc011duq.1_Silent_p.Q259Q|TRERF1_uc003osb.2_Silent_p.Q98Q|TRERF1_uc003osc.2_Silent_p.Q98Q|TRERF1_uc003osd.2_Silent_p.Q259Q	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	259	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTGCATGTGCTGTGACAGCA	0.582													3	52					0	0	1	0	0	T	42236552	C	T	42236552	2	4	377	1	0	0	0	0	0	0	0	1	16472	796	28	2		2	TRERF1	6	42236552	Silent	SNP	C	TCGA-GE-A2C6-01A-11D-A17V-08		42236552	128878515	2	6318											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	26					0	0	1	0	0	T	140453136	A	T	140453136	3	4	377	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-GE-A2C6-01A-11D-A17V-08		140453136	18685527	3	6319											
C10orf140	387640	broad.mit.edu	37	chr10	21805472	21805473	+	In_Frame_Ins	INS	-	-	CCTCCT													ggccccgctgcccccctcctINScctcctcttcctcctcctcc							TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr10:21805472_21805473insCCTCCT	uc009xkd.3	-	3	3532_3533	c.1279_1280insAGGAGG	c.(1279-1281)gag>gAGGAGGag	p.427_427E>EEE	AK055656_uc001iqp.1_Non-coding_Transcript|C10orf140_uc021pnx.1_In_Frame_Ins_p.427_427E>EEE	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	346						nucleus	nucleotide binding			kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						GCccccctcctcctcctcttcc	0.614													2	4	---	---	---	---						CCTCCT	21805473	-	CCTCCT	21805472	7	5	377	1	0	1	1	0	0	0	0	0	1595	1551	54	0	1450	0	C10orf140	10	21805472	In_Frame_Ins	INS	-	TCGA-GE-A2C6-01A-11D-A17V-08		21805472	113729275	4	6320											
RTN3	10313	broad.mit.edu	37	chr11	63487681	63487681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcatcaagatcagccTgatattcttggaaggagtcc	11	9	3	2			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr11:63487681T>C	uc001nxq.3	+	2	1894	c.1707T>C	c.(1705-1707)ccT>ccC	p.P569P	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.P457P|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.P550P|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	569					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGATCAGCCTGATATTCTTG	0.413													3	47					0	0	1	0	0	C	63487681	T	C	63487681	2	2	377	1	0	0	0	0	0	0	0	1	13727	1567	55	3		3	RTN3	11	63487681	Silent	SNP	T	TCGA-GE-A2C6-01A-11D-A17V-08		63487681	71518835	5	6321											
INTS3	65123	broad.mit.edu	37	chr1	153719545	153719545	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatacctgccgtactcAggtaaggccagaaagaaaag	12	9	1	2			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr1:153719545A>G	uc009wom.3	+	5	653	c.432_splice	c.e5+1	p.Q144_splice	INTS3_uc001fct.3_Splice_Site_p.Q144_splice|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	144					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCGTACTCAGGTAAGGCCA	0.463													4	76					0	0	1	0	0	G	153719545	A	G	153719545	5	3	378	1	0	0	0	0	0	0	1	0	7779	202	7	3	445	3	INTS3	1	153719545	Splice_Site	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		153719545	95531076	1	6322											
RBM6	10180	broad.mit.edu	37	chr3	50005666	50005666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaggactgatcaggattttAggggcagagagatgggatct	15	5	2	3			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr3:50005666A>G	uc003cyc.3	+	2	1056	c.808A>G	c.(808-810)Agg>Ggg	p.R270G	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	270					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCAGGATTTTAGGGGCAGAGA	0.453													3	78					0	0	1	0	0	G	50005666	A	G	50005666	3	3	378	1	0	0	0	0	1	0	0	0	13144	411	15	3	814	3	RBM6	3	50005666	Missense_Mutation	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		50005666	148016764	2	6323											
LAMA4	3910	broad.mit.edu	37	chr6	112469364	112469364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttctaagtgatacctgcaTccctagcagagttcactgca	7	11	2	2			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr6:112469364T>A	uc003pvu.2	-	17	2657	c.2348A>T	c.(2347-2349)gAt>gTt	p.D783V	LAMA4_uc003pvv.2_Missense_Mutation_p.D776V|LAMA4_uc003pvt.2_Missense_Mutation_p.D776V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	783	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GATACCTGCATCCCTAGCAGA	0.393													17	40					0	0	1	0	0	A	112469364	T	A	112469364	3	1	378	1	0	0	0	0	1	0	0	0	8608	1435	50	5	3211	5	LAMA4	6	112469364	Missense_Mutation	SNP	T	TCGA-H2-A26U-01A-11D-A16O-08		112469364	58645703	3	6324											
CUX1	1523	broad.mit.edu	37	chr7	101847718	101847718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgacatgctgtcccgaccGaagccatggagcaagctgac	12	13	0	1			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr7:101847718G>A	uc003uys.4	+	18	3115	c.2988G>A	c.(2986-2988)ccG>ccA	p.P996P	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.P985P	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	985					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGTCCCGACCGAAGCCATGGA	0.622													7	108					0	0	1	0	0	A	101847718	G	A	101847718	2	1	378	1	0	0	0	0	0	0	0	1	4064	1045	37	1		1	CUX1	7	101847718	Silent	SNP	G	TCGA-H2-A26U-01A-11D-A16O-08		101847718	57290945	4	6325											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	47					0	0	1	0	0	T	140453136	A	T	140453136	3	4	378	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08	38605418	140453136	18685527	5	6326											
FZD3	7976	broad.mit.edu	37	chr8	28409258	28409258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttttttcatggtcgtAggaaaaaagagtaagttgaa	10	4	1	2			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr8:28409258A>G	uc003xgx.3	+	5	2072	c.1543A>G	c.(1543-1545)Agg>Ggg	p.R515G	FZD3_uc010lvb.3_Missense_Mutation_p.R515G	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	515					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCATGGTCGTAGGAAAAAAGA	0.358													3	43					0	0	1	0	0	G	28409258	A	G	28409258	3	3	378	1	0	0	0	0	1	0	0	0	6131	411	15	3	1557	3	FZD3	8	28409258	Missense_Mutation	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		28409258	117954764	6	6327											
OR8I2	120586	broad.mit.edu	37	chr11	55861326	55861326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttttttgtgacaccacAgctcttttagcactctcctg	5	12	2	1			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr11:55861326A>G	uc010rix.2	+	0	543	c.543A>G	c.(541-543)acA>acG	p.T181T		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGACACCACAGCTCTTTTAG	0.433													4	105					0	0	1	0	0	G	55861326	A	G	55861326	2	3	378	1	0	0	0	0	0	0	0	1	11240	175	7	3		3	OR8I2	11	55861326	Silent	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		55861326	79145190	7	6328											
HIF3A	64344	broad.mit.edu	37	chr19	46825036	46825036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgtgtcctgcagacaCccctggcccccggatccttg	9	18	0	1			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr19:46825036C>T	uc002peh.3	+	9	1179	c.1148C>T	c.(1147-1149)aCc>aTc	p.T383I	HIF3A_uc002peg.4_Missense_Mutation_p.T383I|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.T327I|HIF3A_uc002pej.2_Missense_Mutation_p.T314I|HIF3A_uc010xxy.2_Missense_Mutation_p.T314I|HIF3A_uc002pel.3_Missense_Mutation_p.T381I|HIF3A_uc010xxz.2_Missense_Mutation_p.T332I	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.G383C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTGCAGACACCCCTGGCCCC	0.662													38	93					0	0	1	0	0	T	46825036	C	T	46825036	3	4	378	1	0	0	0	0	1	0	0	0	7105	507	18	2	1210	2	HIF3A	19	46825036	Missense_Mutation	SNP	C	TCGA-H2-A26U-01A-11D-A16O-08		46825036	12303947	8	6329											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			59	81					0	0	1	0	0	C	115256529	T	C	115256529	3	2	379	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-H2-A2K9-01A-11D-A17V-08		115256529	133994092	1	6330											
NR4A2	4929	broad.mit.edu	37	chr2	157182823	157182823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgcaaaagatgagtttaCcctccactgggttggacctg	10	10	0	2			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr2:157182823C>T	uc002tyz.4	-	6	1801	c.1379G>A	c.(1378-1380)gGt>gAt	p.G460D	NR4A2_uc021vri.1_Missense_Mutation_p.G435D|NR4A2_uc002tyx.4_Missense_Mutation_p.G397D|NR4A2_uc010zcf.2_Missense_Mutation_p.G460D|NR4A2_uc010zcg.1_Intron	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	460					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GATGAGTTTACCCTCCACTGG	0.428													23	26					0	0	1	0	0	T	157182823	C	T	157182823	3	4	379	1	0	0	0	0	1	0	0	0	10633	507	18	2	425	2	NR4A2	2	157182823	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		157182823	86016550	2	6331											
ARAP3	64411	broad.mit.edu	37	chr5	141041612	141041612	+	Frame_Shift_Del	DEL	G	G	-													cagggatcttaggaataccaGcagcctccctccagcgaggc							TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr5:141041612delG	uc003llm.3	-	19	3089	c.3011delC	c.(3010-3012)gctfs	p.A1004fs	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Frame_Shift_Del_p.A666fs|ARAP3_uc003lln.3_Intron	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1004	Rho-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.A1004V(2)|p.A1004S(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGAATACCAGCAGCCTCCCT	0.577													38	30	---	---	---	---						-	141041612	G	-	141041612	7	5	379	1	0	1	0	1	0	0	0	0	840	971	34	0	1679	0	ARAP3	5	141041612	Frame_Shift_Del	DEL	G	TCGA-H2-A2K9-01A-11D-A17V-08		141041612	39873648	3	6332											
PENK	5179	broad.mit.edu	37	chr8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagtaactttcgccttcttCgtcggagggcagagcctcgg	14	11	1	1			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:57353902C>T	uc003xsz.2	-	1	814	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_uc003xta.3_Missense_Mutation_p.E245K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	245					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498													23	86					0	0	1	0	0	T	57353902	C	T	57353902	3	4	379	1	0	0	0	0	1	0	0	0	11727	893	31	1	74	1	PENK	8	57353902	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		57353902	89010120	4	6333											
ESRP1	54845	broad.mit.edu	37	chr8	95683762	95683762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactacctcagcaatttgtgCcccctacaaatgttagagac	6	12	1	1			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:95683762C>T	uc003ygq.4	+	10	1498	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	ESRP1_uc003ygr.4_Missense_Mutation_p.P439S|ESRP1_uc003ygs.4_Missense_Mutation_p.P439S|ESRP1_uc003ygt.4_Missense_Mutation_p.P439S|ESRP1_uc003ygu.4_Missense_Mutation_p.P439S|ESRP1_uc003ygv.3_Missense_Mutation_p.P279S|ESRP1_uc003ygw.3_Missense_Mutation_p.P279S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	439					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCAATTTGTGCCCCCTACAAA	0.493													5	64					0	0	1	0	0	T	95683762	C	T	95683762	3	4	379	1	0	0	0	0	1	0	0	0	5258	739	26	2	1357	2	ESRP1	8	95683762	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08	38329860	95683762	50680260	5	6334											
DAPK1	1612	broad.mit.edu	37	chr9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcttcatccagcagctcCgacccacacagaacctgcag	7	17	2	1			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:90296352C>T	uc004apc.3	+	19	2173	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_uc004apd.3_Nonsense_Mutation_p.R679*|DAPK1_uc011ltg.2_Nonsense_Mutation_p.R679*|DAPK1_uc011lth.2_Nonsense_Mutation_p.R416*|DAPK1_uc004apf.1_Nonsense_Mutation_p.R233*	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	679					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of				63	86					0	0	1	0	0	T	90296352	C	T	90296352	4	4	379	1	0	0	0	0	0	1	0	0	4235	644	23	1	2109	1	DAPK1	9	90296352	Nonsense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		90296352	50917079	6	6335											
TBC1D2	55357	broad.mit.edu	37	chr9	100973003	100973003	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccactgcagtgcctcctgGacaagctgcctcagcagctc	9	17	1	0			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:100973003G>A	uc011lvb.2	-	7	1788	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	TBC1D2_uc004ayp.3_Silent_p.V76V|TBC1D2_uc004ayq.3_Silent_p.V536V|TBC1D2_uc004ayr.3_Silent_p.V318V	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	536						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTGCCTCCTGGACAAGCTGCC	0.637													4	3					0	0	1	0	0	A	100973003	G	A	100973003	2	1	379	1	0	0	0	0	0	0	0	1	15605	1161	41	2		2	TBC1D2	9	100973003	Silent	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08	10676651	100973003	40240428	7	6336											
CST6	1474	broad.mit.edu	37	chr11	65780827	65780827	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccttgtggttccctggCagaactcctctcagctccta	9	14	1	1			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr11:65780827C>T	uc001ogr.3	+	2	460	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	CST6_uc001ogs.1_3'UTR	NM_001323	NP_001314	Q15828	CYTM_HUMAN	Homo sapiens cystatin E/M (CST6), mRNA.	136					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						GGTTCCCTGGCAGAACTCCTC	0.582													8	85					0	0	1	0	0	T	65780827	C	T	65780827	4	4	379	1	0	0	0	0	0	1	0	0	3976	711	25	2	416	2	CST6	11	65780827	Nonsense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		65780827	69225689	8	6337											
ANO2	57101	broad.mit.edu	37	chr12	5916525	5916525	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatattgtttgcgatcagaGagttaatacctacggaagaa	10	5	1	3			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr12:5916525G>C	uc001qnm.2	-	7	962	c.890C>G	c.(889-891)tCt>tGt	p.S297C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	302						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGCGATCAGAGAGTTAATACC	0.403													4	3					0	0	1	0	0	C	5916525	G	C	5916525	3	2	379	1	0	0	0	0	1	0	0	0	697	942	33	4	2182	4	ANO2	12	5916525	Missense_Mutation	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08		5916525	127935370	9	6338											
CATSPERB	79820	broad.mit.edu	37	chr14	92126274	92126274	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttctttatgatatcatcatGaaagttagctattaattgaa	5	5	3	3			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr14:92126274G>C	uc001xzs.1	-	14	1479	c.1339C>G	c.(1339-1341)Cat>Gat	p.H447D	CATSPERB_uc010aub.1_Intron	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	447					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATCATCATGAAAGTTAGCT	0.353													3	70					0	0	1	0	0	C	92126274	G	C	92126274	3	2	379	1	0	0	0	0	1	0	0	0	2691	1290	45	4	2063	4	CATSPERB	14	92126274	Missense_Mutation	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08		92126274	15223266	10	6339											
DMXL2	23312	broad.mit.edu	37	chr15	51837864	51837864	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagtggtagtctcacaaatCtgctcacccaaaagacagtc	8	11	3	1			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr15:51837864C>A	uc010ufy.2	-	7	1071	c.846G>T	c.(844-846)caG>caT	p.Q282H	DMXL2_uc002abf.3_Missense_Mutation_p.Q282H|DMXL2_uc010bfa.3_Missense_Mutation_p.Q282H	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	282						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCACAAATCTGCTCACCCA	0.433													63	48					0	0	1	0	0	A	51837864	C	A	51837864	3	1	379	1	0	0	0	0	1	0	0	0	4595	912	32	4	8411	4	DMXL2	15	51837864	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		51837864	50693528	11	6340											
MYCBPAP	84073	broad.mit.edu	37	chr17	48596401	48596401	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacctacagacggatccaggAggagcgggagctcattgact	14	10	1	2			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr17:48596401A>T	uc010wmr.2	+	5	1010	c.848A>T	c.(847-849)gAg>gTg	p.E283V	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	246					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CGGATCCAGGAGGAGCGGGAG	0.602													26	38					0	0	1	0	0	T	48596401	A	T	48596401	3	4	379	1	0	0	0	0	1	0	0	0	10019	304	11	5	870	5	MYCBPAP	17	48596401	Missense_Mutation	SNP	A	TCGA-H2-A2K9-01A-11D-A17V-08		48596401	32598809	12	6341											
FUZ	80199	broad.mit.edu	37	chr19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggacctgtcatggaagcTtttccacaccacagtcgtgt	11	11	1	0			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr19:50315885T>C	uc002ppq.2	-	1	424	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Intron|FUZ_uc010ybd.2_Missense_Mutation_p.S74G	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	74					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572													3	62					0	0	1	0	0	C	50315885	T	C	50315885	3	2	379	1	0	0	0	0	1	0	0	0	6112	1609	56	3	1076	3	FUZ	19	50315885	Missense_Mutation	SNP	T	TCGA-H2-A2K9-01A-11D-A17V-08		50315885	8813098	13	6342											
PKDREJ	10343	broad.mit.edu	37	chr22	46653016	46653016	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcgtagaagaatctggaAtacctgagggtcttcaaaat	9	7	3	3			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr22:46653016A>C	uc003bhh.3	-	0	6204	c.6204T>G	c.(6202-6204)taT>taG	p.Y2068*		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2068					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAATCTGGAATACCTGAGGG	0.463													12	16					0	0	1	0	0	C	46653016	A	C	46653016	4	2	379	1	0	0	0	0	0	1	0	0	11970	108	4	5	561	5	PKDREJ	22	46653016	Nonsense_Mutation	SNP	A	TCGA-H2-A2K9-01A-11D-A17V-08		46653016	4651550	14	6343											
SMARCAL1	50485	broad.mit.edu	37	chr2	217332707	217332707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagtggaagagagaagTttttagtatttgcacaccat	11	4	0	2			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:217332707T>C	uc002vgc.4	+	13	2512	c.2182T>C	c.(2182-2184)Ttt>Ctt	p.F728L	SMARCAL1_uc002vgd.4_Missense_Mutation_p.F728L|SMARCAL1_uc010fvg.3_Missense_Mutation_p.F706L	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	728	Helicase C-terminal.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AAGAGAGAAGTTTTTAGTATT	0.393									Schimke Immuno-Osseous Dysplasia				4	106					0	0	1	0	0	C	217332707	T	C	217332707	3	2	380	1	0	0	0	0	1	0	0	0	14773	1725	60	3	2228	3	SMARCAL1	2	217332707	Missense_Mutation	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08		217332707	25866666	1	6344											
GRM4	2914	broad.mit.edu	37	chr6	34003992	34003992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatagcacaggaagatgCctgccagcagcacgtagctc	12	12	0	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:34003992C>T	uc003oir.4	-	7	2258	c.1895G>A	c.(1894-1896)gGc>gAc	p.G632D	GRM4_uc011dsn.2_Missense_Mutation_p.G585D|GRM4_uc010jvh.3_Missense_Mutation_p.G632D|GRM4_uc010jvi.3_Missense_Mutation_p.G324D|GRM4_uc003oio.3_Missense_Mutation_p.G324D|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.G492D|GRM4_uc003oiq.3_Missense_Mutation_p.G499D|GRM4_uc011dsm.2_Missense_Mutation_p.G463D	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	632					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CAGGAAGATGCCTGCCAGCAG	0.597													3	44					0	0	1	0	0	T	34003992	C	T	34003992	3	4	380	1	0	0	0	0	1	0	0	0	6799	739	26	2	855	2	GRM4	6	34003992	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		34003992	137111075	2	6345											
PHF3	23469	broad.mit.edu	37	chr6	64394725	64394725	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggtttgcctagttgtgtaGatgaagtgactgaatgtaat	12	3	0	4			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:64394725G>A	uc003pep.1	+	2	1127	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	PHF3_uc010kaf.1_Missense_Mutation_p.D368N|PHF3_uc003pem.2_Missense_Mutation_p.D321N|PHF3_uc010kag.1_Missense_Mutation_p.D280N|PHF3_uc010kah.1_Missense_Mutation_p.D182N|PHF3_uc003pen.2_Missense_Mutation_p.D280N|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.D368N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	368					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	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)			TAGTTGTGTAGATGAAGTGAC	0.373													32	67					0	0	1	0	0	A	64394725	G	A	64394725	3	1	380	1	0	0	0	0	1	0	0	0	11836	942	33	2	1112	2	PHF3	6	64394725	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08	30390733	64394725	106720342	3	6346											
EEF1A1	1915	broad.mit.edu	37	chr6	74228155	74228158	+	Frame_Shift_Del	DEL	GACA	GACA	-													ttgccacgacgaacatccttGacagacacattcttgacatt							TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:74228155_74228158delGACA	uc003phi.3	-	4	1940_1943	c.948_951delTGTC	c.(946-951)tctgtcfs	p.S316fs	EEF1A1_uc003phj.3_Frame_Shift_Del_p.S316fs|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_Non-coding_Transcript	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	316						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GAACATCCTTGACAGACACATTCT	0.446											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	35	43	---	---	---	---						-	74228158	GACA	-	74228155	7	5	380	1	0	1	0	1	0	0	0	0	4923	1277	45	0	449	0	EEF1A1	6	74228155	Frame_Shift_Del	DEL	GACA	TCGA-H2-A3RH-01A-11D-A21Z-08	9833430	74228155	96886912	4	6347											
IQCE	23288	broad.mit.edu	37	chr7	2613074	2613074	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgtccctgggactcctgtCtacagagaaaaagaagatat	9	9	1	3			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:2613074C>A	uc003sml.1	+	5	601	c.417C>A	c.(415-417)gtC>gtA	p.V139V	IQCE_uc010ksm.1_Silent_p.V139V|IQCE_uc011jvy.1_Silent_p.V123V|IQCE_uc011jvz.1_Silent_p.V74V|IQCE_uc003smo.4_Silent_p.V139V|IQCE_uc003smk.4_Silent_p.V123V|IQCE_uc003smn.4_Silent_p.V74V	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	139										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGACTCCTGTCTACAGAGAAA	0.348													3	53					0	0	1	0	0	A	2613074	C	A	2613074	2	1	380	1	0	0	0	0	0	0	0	1	7806	900	32	4		4	IQCE	7	2613074	Silent	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		2613074	156525589	5	6348											
FAM71F1	84691	broad.mit.edu	37	chr7	128359074	128359074	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaccaccaaagacccTaggattcttgtcacgcactg	6	15	3	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:128359074T>A	uc003vno.1	+	2	677	c.624T>A	c.(622-624)ccT>ccA	p.P208P	FAM71F1_uc010llo.1_Silent_p.P109P|FAM71F1_uc011koq.1_Silent_p.P100P|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Silent_p.P109P|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P208P	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	208										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCAAAGACCCTAGGATTCTTG	0.532													69	85					0	0	1	0	0	A	128359074	T	A	128359074	2	1	380	1	0	0	0	0	0	0	0	1	5612	1509	53	5		5	FAM71F1	7	128359074	Silent	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08	125746000	128359074	30779589	6	6349											
ANK1	286	broad.mit.edu	37	chr8	41530362	41530362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccagtactggtctgcacGtagcggagaggaaagtgcac	13	9	1	1	rs146416859	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr8:41530362G>A	uc003xom.3	-	38	5011	c.4729C>T	c.(4729-4731)Cgt>Tgt	p.R1577C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.R1536C|ANK1_uc003xoj.3_Missense_Mutation_p.R1536C|ANK1_uc003xok.3_Missense_Mutation_p.R1536C|ANK1_uc003xol.3_Intron	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.	1536	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGTCTGCACGTAGCGGAGAG	0.607													11	19					0	0	1	0	0	A	41530362	G	A	41530362	3	1	380	1	0	0	0	0	1	0	0	0	620	1145	40	1	1385	1	ANK1	8	41530362	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		41530362	104833660	7	6350											
DLG5	9231	broad.mit.edu	37	chr10	79595529	79595529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctctgctacaatcttgtctCgctcctggaaggcccagtcc	9	15	3	0			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:79595529C>A	uc001jzk.3	-	7	1659	c.1589G>T	c.(1588-1590)cGa>cTa	p.R530L	DLG5_uc001jzj.3_Missense_Mutation_p.R285L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.R134L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	530					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AATCTTGTCTCGCTCCTGGAA	0.622													19	22					0	0	1	0	0	A	79595529	C	A	79595529	3	1	380	1	0	0	0	0	1	0	0	0	4558	884	31	4	4270	4	DLG5	10	79595529	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		79595529	55939218	8	6351											
OR8K5	219453	broad.mit.edu	37	chr11	55926983	55926983	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacacagaagccattttatCagtatcaaagaagtgagtgg	9	6	2	3			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:55926983C>A	uc010rja.2	-	0	811	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T270N(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCATTTTATCAGTATCAAAG	0.398													3	72					0	0	1	0	0	A	55926983	C	A	55926983	3	1	380	1	0	0	0	0	1	0	0	0	11245	826	29	4	115	4	OR8K5	11	55926983	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		55926983	79079533	9	6352											
FLI1	2313	broad.mit.edu	37	chr11	128680730	128680730	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggtgaactttgtcccTccccatccatcctccatgcc	6	17	0	2			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:128680730T>C	uc010sbu.2	+	8	1549	c.1206T>C	c.(1204-1206)ccT>ccC	p.P402P	FLI1_uc010sbt.2_Silent_p.P209P|FLI1_uc010sbv.2_Silent_p.P369P|FLI1_uc009zci.3_Silent_p.P336P	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	402					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACTTTGTCCCTCCCCATCCAT	0.567			T	EWSR1	Ewing sarcoma								3	64					0	0	1	0	0	C	128680730	T	C	128680730	2	2	380	1	0	0	0	0	0	0	0	1	5924	1538	54	3		3	FLI1	11	128680730	Silent	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08	72753747	128680730	6325786	10	6353											
KRAS	3845	broad.mit.edu	37	chr12	25380277	25380278	+	Missense_Mutation	DNP	GA	GA	TT													cattgcactgtactcctcttGacctgctgtgtcgagaatat					rs121913238		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr12:25380277_25380278GA>TT	uc001rgp.1	-	2	361_362	c.180_181TC>AA	c.(178-183)ggtcaa>ggAAaa	p.Q61K	KRAS_uc001rgq.1_Missense_Mutation_p.Q61K	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(71)|p.Q61K(64)|p.Q61R(56)|p.Q61E(20)|p.Q61P(12)|p.G60G(2)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			TACTCCTCTTGACCTGCTGTGT	0.411	Q61K(CALU6_LUNG)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			24	47					0	0	1	0	0	TT	25380278	GA	TT	25380277	3	4	380	1	0	0	0	0	1	0	0	0	8438	1299	45	4	521	4	KRAS	12	25380277	Missense_Mutation	DNP	GA	TCGA-H2-A3RH-01A-11D-A21Z-08		25380277	108471618	11	6354											
SERPINE3	647174	broad.mit.edu	37	chr13	51915403	51915403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgctggtgtgtcccTccccctggagatcctgcagt	10	16	1	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr13:51915403T>C	uc001vfh.2	+	0	236	c.176T>C	c.(175-177)cTc>cCc	p.L59P	SERPINE3_uc010tgp.2_Missense_Mutation_p.L59P	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	59					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GGTGTGTCCCTCCCCCTGGAG	0.557													3	51					0	0	1	0	0	C	51915403	T	C	51915403	3	2	380	1	0	0	0	0	1	0	0	0	14113	1551	54	3	178	3	SERPINE3	13	51915403	Missense_Mutation	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08		51915403	63254475	12	6355											
TUBG1	7283	broad.mit.edu	37	chr17	40762598	40762599	+	Missense_Mutation	DNP	GA	GA	CG													tggcaacaactgggccagcgGattctcccaggtcgtttcct							TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:40762598_40762599GA>CG	uc002ian.3	+	2	718_719	c.320_321GA>CG	c.(319-321)gga>gCG	p.G107A	FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_5'UTR	NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	107					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGGGCCAGCGGATTCTCCCAGG	0.569													8	78					0	0	1	0	0	CG	40762599	GA	CG	40762598	3	2	380	1	0	0	0	0	1	0	0	0	16761	1174	41	4	330	4	TUBG1	17	40762598	Missense_Mutation	DNP	GA	TCGA-H2-A3RH-01A-11D-A21Z-08		40762598	40432612	13	6356											
MRPL10	124995	broad.mit.edu	37	chr17	45904011	45904011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgctcacctagcagcGgcaggaatggcacagtcctt	12	12	1	0			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:45904011G>A	uc002ily.3	-	4	652	c.554C>T	c.(553-555)cCg>cTg	p.P185L	MRPL10_uc002ilz.3_Missense_Mutation_p.P175L|MRPL10_uc010wky.2_Missense_Mutation_p.P136L	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN	Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	175					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						ACCTAGCAGCGGCAGGAATGG	0.557													7	119					0	0	1	0	0	A	45904011	G	A	45904011	3	1	380	1	0	0	0	0	1	0	0	0	9775	1116	39	1	269	1	MRPL10	17	45904011	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08	5141413	45904011	35291199	14	6357											
GRAMD1A	57655	broad.mit.edu	37	chr19	35500211	35500211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagagcctaggcagccGgaacttcatccgcaacagca	9	16	1	1			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr19:35500211G>A	uc010xsf.1	+	1	212	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	GRAMD1A_uc002nxi.1_Missense_Mutation_p.R153Q|GRAMD1A_uc010xse.1_Missense_Mutation_p.R66Q|GRAMD1A_uc002nxk.2_Missense_Mutation_p.R66Q|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	66						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTAGGCAGCCGGAACTTCATC	0.637													3	69					0	0	1	0	0	A	35500211	G	A	35500211	3	1	380	1	0	0	0	0	1	0	0	0	6747	1116	39	1	203	1	GRAMD1A	19	35500211	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		35500211	23628772	15	6358											
AOX1	316	broad.mit.edu	37	chr2	201485429	201485429	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccccatcatgcatctGtctggtgtgaagcatgccac	10	14	3	1			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr2:201485429G>C	uc002uvx.3	+	16	1862	c.1761G>C	c.(1759-1761)ctG>ctC	p.L587L	AOX1_uc010zhf.2_Silent_p.L143L|AOX1_uc010fsu.3_Intron	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	587					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCATGCATCTGTCTGGTGTGA	0.443													4	97					0	0	1	0	0	C	201485429	G	C	201485429	2	2	381	1	0	0	0	0	0	0	0	1	729	1364	48	4		4	AOX1	2	201485429	Silent	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		201485429	41713944	1	6359											
NOP16	51491	broad.mit.edu	37	chr5	175815258	175815258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttacggaggggcaccGccctgttggggtccacagcc	13	14	1	0			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr5:175815258G>A	uc003mee.3	-	1	194	c.194C>T	c.(193-195)gCg>gTg	p.A65V	NOP16_uc003med.3_Missense_Mutation_p.A65V|NOP16_uc011dfl.2_Missense_Mutation_p.A65V|NOP16_uc011dfm.1_Missense_Mutation_p.A65V|HIGD2A_uc003meg.3_5'Flank			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	65						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGGGGCACCGCCCTGTTGGG	0.587													4	114					0	0	1	0	0	A	175815258	G	A	175815258	3	1	381	1	0	0	0	0	1	0	0	0	10537	1087	38	1	357	1	NOP16	5	175815258	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		175815258	5100002	2	6360											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				43	70					0	0	1	0	0	T	140453136	A	T	140453136	3	4	381	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A3RI-01A-11D-A21Z-08		140453136	18685527	3	6361											
PIWIL2	55124	broad.mit.edu	37	chr8	22138985	22138985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatccaaaagtgttggcgGctggggacagcaagatggca	17	7	0	1			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr8:22138985G>A	uc003xbn.2	+	3	530	c.382G>A	c.(382-384)Gct>Act	p.A128T	PIWIL2_uc011kzf.1_Missense_Mutation_p.A128T|PIWIL2_uc010ltv.2_Missense_Mutation_p.A128T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	128					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGTGTTGGCGGCTGGGGACAG	0.488													4	130					0	0	1	0	0	A	22138985	G	A	22138985	3	1	381	1	0	0	0	0	1	0	0	0	11958	1203	42	2	392	2	PIWIL2	8	22138985	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		22138985	124225037	4	6362											
UNC5B	219699	broad.mit.edu	37	chr10	73055692	73055692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccccatgcccattggaGgagcaagctgctggccaaat	10	15	0	0			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:73055692G>A	uc001jro.3	+	13	2751	c.2300G>A	c.(2299-2301)aGg>aAg	p.R767K	UNC5B_uc001jrp.3_Missense_Mutation_p.R756K	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	767					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCCATTGGAGGAGCAAGCTG	0.632													3	111					0	0	1	0	0	A	73055692	G	A	73055692	3	1	381	1	0	0	0	0	1	0	0	0	16989	1000	35	2	2354	2	UNC5B	10	73055692	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		73055692	62479055	5	6363											
SEC23IP	11196	broad.mit.edu	37	chr10	121658138	121658138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcccctgactgctctcccTtttacaactggatcccaaga	6	15	1	2	rs1063732		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:121658138T>C	uc001leu.2	+	1	573	c.363T>C	c.(361-363)ccT>ccC	p.P121P	SEC23IP_uc010qtc.2_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	121	Interaction with SEC23A.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTGCTCTCCCTTTTACAACTG	0.473													4	173					0	0	1	0	0	C	121658138	T	C	121658138	2	2	381	1	0	0	0	0	0	0	0	1	13993	1596	56	3		3	SEC23IP	10	121658138	Silent	SNP	T	TCGA-H2-A3RI-01A-11D-A21Z-08	48602446	121658138	13876609	6	6364											
ITGAD	3681	broad.mit.edu	37	chr16	31425789	31425789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgacatccaaagctctGtcaggtttgatctggcactg	11	10	3	2	rs139794241	by1000genomes	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr16:31425789G>A	uc010cap.1	+	16	2066	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	ITGAD_uc002ebv.1_Missense_Mutation_p.V672I	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	672					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAAAGCTCTGTCAGGTTTGA	0.443													6	273					0	0	1	0	0	A	31425789	G	A	31425789	3	1	381	1	0	0	0	0	1	0	0	0	7884	1377	48	2	2080	2	ITGAD	16	31425789	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		31425789	58928964	7	6365											
DNAH9	1770	broad.mit.edu	37	chr17	11872791	11872791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcaacctgaagactaagGaaaacccatccaagtgggtt	8	10	1	2			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr17:11872791G>A	uc002gne.3	+	68	13476	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	DNAH9_uc010coo.3_Missense_Mutation_p.E3688K|DNAH9_uc002gnf.3_Missense_Mutation_p.E782K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4470					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGACTAAGGAAAACCCATC	0.512													4	44					0	0	1	0	0	A	11872791	G	A	11872791	3	1	381	1	0	0	0	0	1	0	0	0	4608	1175	41	2	13682	2	DNAH9	17	11872791	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		11872791	69322419	8	6366											
CYB5A	1528	broad.mit.edu	37	chr18	71930661	71930661	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccgacatcctcaaagttctCagtagcgtcacctccagctt	6	16	3	0			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr18:71930661C>G	uc002lli.3	-	1	322	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CYB5A_uc021ull.1_Missense_Mutation_p.E61Q|CYB5A_uc002llh.3_Missense_Mutation_p.E61Q	NM_148923	NP_683725	P00167	CYB5_HUMAN	Homo sapiens cytochrome b5 type A (microsomal) (CYB5A), transcript variant 1, mRNA.	61	Cytochrome b5 heme-binding.				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	TCAAAGTTCTCAGTAGCGTCA	0.443													3	143					0	0	1	0	0	G	71930661	C	G	71930661	3	3	381	1	0	0	0	0	1	0	0	0	4122	835	29	4	252	4	CYB5A	18	71930661	Missense_Mutation	SNP	C	TCGA-H2-A3RI-01A-11D-A21Z-08		71930661	6146587	9	6367											
MEGF8	1954	broad.mit.edu	37	chr19	42848949	42848949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcctgcacttgctcacCtttcagcagccgcccaatac	7	18	2	0			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:42848949C>T	uc002otl.4	+	11	2696	c.2061C>T	c.(2059-2061)acC>acT	p.T687T	MEGF8_uc002otm.4_Silent_p.T228T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	755						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTTGCTCACCTTTCAGCAGC	0.617													4	110					0	0	1	0	0	T	42848949	C	T	42848949	2	4	381	1	0	0	0	0	0	0	0	1	9463	668	24	2		2	MEGF8	19	42848949	Silent	SNP	C	TCGA-H2-A3RI-01A-11D-A21Z-08		42848949	16280034	10	6368											
ZNF432	9668	broad.mit.edu	37	chr19	52537330	52537330	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggtttctctccagtatgAgttcgctggtgtacaacaag	11	8	1	1			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:52537330A>G	uc002pyk.3	-	4	1920	c.1602T>C	c.(1600-1602)acT>acC	p.T534T		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTCCAGTATGAGTTCGCTGGT	0.398													3	147					0	0	1	0	0	G	52537330	A	G	52537330	2	3	381	1	0	0	0	0	0	0	0	1	17903	291	11	3		3	ZNF432	19	52537330	Silent	SNP	A	TCGA-H2-A3RI-01A-11D-A21Z-08	9688381	52537330	6591653	11	6369											
ADNP	23394	broad.mit.edu	37	chr20	49508575	49508575	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcaaaaacagggtcaaaAgggctaccactttcattgga	8	9	3	0			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr20:49508575A>G	uc002xvt.1	-	4	3021	c.2676T>C	c.(2674-2676)ccT>ccC	p.P892P	ADNP_uc002xvu.1_Silent_p.P892P	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	892						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CAGGGTCAAAAGGGCTACCAC	0.408													3	196					0	0	1	0	0	G	49508575	A	G	49508575	2	3	381	1	0	0	0	0	0	0	0	1	323	59	3	3		3	ADNP	20	49508575	Silent	SNP	A	TCGA-H2-A3RI-01A-11D-A21Z-08		49508575	13516945	12	6370											
RYR2	6262	broad.mit.edu	37	chr1	237993860	237993860	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatctgtgggataggcaatGattacttcgacacagtgcca	10	9	2	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr1:237993860G>A	uc001hyl.1	+	102	14806	c.14686G>A	c.(14686-14688)Gat>Aat	p.D4896N	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4896					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATAGGCAATGATTACTTCGA	0.423													18	176					0	0	1	0	0	A	237993860	G	A	237993860	3	1	382	1	0	0	0	0	1	0	0	0	13769	1290	45	2	15096	2	RYR2	1	237993860	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		237993860	11256761	1	6371											
PLA2R1	22925	broad.mit.edu	37	chr2	160798656	160798656	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctttttctggcagcgcctCtgcagtgtgaatatctaaaa	8	10	3	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr2:160798656C>T	uc002ube.2	-	28	4371	c.4159G>A	c.(4159-4161)Gag>Aag	p.E1387K	PLA2R1_uc010zcp.2_Missense_Mutation_p.E1385K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1387					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGCAGCGCCTCTGCAGTGTGA	0.299													7	65					0	0	1	0	0	T	160798656	C	T	160798656	3	4	382	1	0	0	0	0	1	0	0	0	12010	922	32	2	240	2	PLA2R1	2	160798656	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		160798656	82400717	2	6372											
LRIG1	26018	broad.mit.edu	37	chr3	66434551	66434551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgacatgcatgcgtcgCtcacgggcagcggggaaatc	15	11	1	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:66434551C>T	uc003dmx.3	-	13	1949	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Silent_p.E265E|LRIG1_uc003dmw.3_Silent_p.E311E|LRIG1_uc010hnz.3_Silent_p.E361E|LRIG1_uc010hoa.3_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	645	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCATGCGTCGCTCACGGGCAG	0.567													11	176					0	0	1	0	0	T	66434551	C	T	66434551	2	4	382	1	0	0	0	0	0	0	0	1	8944	796	28	2		2	LRIG1	3	66434551	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		66434551	131587879	3	6373											
HPS3	84343	broad.mit.edu	37	chr3	148889914	148889914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgctgtggaactagaaCtgaaggatttcatgaatgtt	11	4	1	3			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:148889914C>T	uc003ewu.1	+	16	3060	c.2920C>T	c.(2920-2922)Ctg>Ttg	p.L974L	CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Silent_p.L809L|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	974						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGAACTAGAACTGAAGGATTT	0.343									Hermansky-Pudlak syndrome				20	51					0	0	1	0	0	T	148889914	C	T	148889914	2	4	382	1	0	0	0	0	0	0	0	1	7340	564	20	2		2	HPS3	3	148889914	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	82455363	148889914	49132516	4	6374											
THBS4	7060	broad.mit.edu	37	chr5	79354580	79354580	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgacacaattaaaccaactCctgggagaggtgaaggacct	10	9	0	3			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:79354580C>T	uc021yaw.1	+	4	890	c.699C>T	c.(697-699)ctC>ctT	p.L233L		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	233					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TAAACCAACTCCTGGGAGAGG	0.483													5	66					0	0	1	0	0	T	79354580	C	T	79354580	2	4	382	1	0	0	0	0	0	0	0	1	15853	842	30	2		2	THBS4	5	79354580	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		79354580	101560680	5	6375											
HTR4	3360	broad.mit.edu	37	chr5	147863844	147863844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagacaggcttccttgcaGtcaaacatctaatgctcaat	6	12	3	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:147863844G>T	uc021yfj.1	-	5	1222	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N	HTR4_uc021yfg.1_Intron|HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Intron|HTR4_uc021yfi.1_Intron|HTR4_uc011dby.1_Intron|HTR4_uc003lpn.3_Intron|HTR4_uc010jgv.3_Intron	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	cttccttgcagtcaaacatcT	0.413													11	38					0	0	1	0	0	T	147863844	G	T	147863844	3	4	382	1	0	0	0	0	1	0	0	0	7449	1029	36	4	287	4	HTR4	5	147863844	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08	68509264	147863844	33051416	6	6376											
FLT4	2324	broad.mit.edu	37	chr5	180048157	180048157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccacacgatgctgggcgCgtgcgctccggccaccaagc	13	16	0	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:180048157C>T	uc003mlz.4	-	13	2195	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	FLT4_uc003mma.4_Missense_Mutation_p.A706T|FLT4_uc003mmb.1_Missense_Mutation_p.A239T|FLT4_uc011dgy.2_Missense_Mutation_p.A706T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	706	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A706E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGCTGGGCGCGTGCGCTCCG	0.667													7	80					0	0	1	0	0	T	180048157	C	T	180048157	3	4	382	1	0	0	0	0	1	0	0	0	5944	768	27	1	2051	1	FLT4	5	180048157	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	32184313	180048157	867103	7	6377											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				34	71					0	0	1	0	0	T	140453136	A	T	140453136	3	4	382	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		140453136	18685527	8	6378											
NSMAF	8439	broad.mit.edu	37	chr8	59511805	59511805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acataccattatgggccccaActgcatcactccctttttgt	5	14	1	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr8:59511805A>C	uc011lee.2	-	18	1725	c.1664T>G	c.(1663-1665)gTt>gGt	p.V555G	NSMAF_uc003xtt.3_Missense_Mutation_p.V524G	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	524	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ATGGGCCCCAACTGCATCACT	0.338													24	192					0	0	1	0	0	C	59511805	A	C	59511805	3	2	382	1	0	0	0	0	1	0	0	0	10674	43	2	5	1234	5	NSMAF	8	59511805	Missense_Mutation	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		59511805	86852217	9	6379											
PCDH15	65217	broad.mit.edu	37	chr10	55587219	55587219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcgggggcGctgccactggtgcaggagcc	22	13	0	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:55587219G>A	uc010qhy.1	-	32	4711	c.4316C>T	c.(4315-4317)gCg>gTg	p.A1439V	PCDH15_uc010qhq.2_Missense_Mutation_p.A1439V|PCDH15_uc010qhr.2_Missense_Mutation_p.A1434V|PCDH15_uc021pqv.1_Missense_Mutation_p.A1434V|PCDH15_uc021pqw.1_Missense_Mutation_p.A1446V|PCDH15_uc010qht.2_Missense_Mutation_p.A1441V|PCDH15_uc021pqx.1_Missense_Mutation_p.A1434V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.A1434V|PCDH15_uc021pqz.1_Missense_Mutation_p.A1409V|PCDH15_uc010qhv.1_Missense_Mutation_p.A1431V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1394V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1363V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1434V|PCDH15_uc010qia.1_Missense_Mutation_p.A1412V|PCDH15_uc001jju.1_Missense_Mutation_p.A1434V|PCDH15_uc010qib.1_Missense_Mutation_p.A1409V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1434	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				cggcgggggcgCTGCCACTGG	0.577										HNSCC(58;0.16)			20	130					0	0	1	0	0	A	55587219	G	A	55587219	3	1	382	1	0	0	0	0	1	0	0	0	11511	1087	38	1	3193	1	PCDH15	10	55587219	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		55587219	79947528	10	6380											
EIF3A	8661	broad.mit.edu	37	chr10	120797843	120797843	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcccgatcttgattaTctctgtccctttctttttct	3	14	5	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:120797843T>A	uc001ldu.3	-	19	3781	c.3635A>T	c.(3634-3636)gAt>gTt	p.D1212V	EIF3A_uc010qsu.2_Missense_Mutation_p.D1178V|EIF3A_uc009xzg.1_Missense_Mutation_p.D251V	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1212	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		atcttgattatctctgtccct	0.488													8	179					0	0	1	0	0	A	120797843	T	A	120797843	3	1	382	1	0	0	0	0	1	0	0	0	5012	1435	50	5	525	5	EIF3A	10	120797843	Missense_Mutation	SNP	T	TCGA-H2-A421-01A-11D-A23M-08	65210624	120797843	14736904	11	6381											
GPR152	390212	broad.mit.edu	37	chr11	67219491	67219491	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtcctggccacacgggcGaagccccggcaggctgcggg	17	14	0	0	rs78290792		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr11:67219491G>A	uc001olm.3	-	0	710	c.705C>T	c.(703-705)ttC>ttT	p.F235F	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	235						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACACGGGCGAAGCCCCGGC	0.662													5	48					0	0	1	0	0	A	67219491	G	A	67219491	2	1	382	1	0	0	0	0	0	0	0	1	6658	1049	37	1		1	GPR152	11	67219491	Silent	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		67219491	67787025	12	6382											
C1R	715	broad.mit.edu	37	chr12	7188364	7188364	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggggtgatttcctagcttCatgagctcttccacatttgt	9	9	2	2			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:7188364C>A	uc010sfy.2	-	8	1415	c.1356G>T	c.(1354-1356)atG>atT	p.M452I		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	530					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCCTAGCTTCATGAGCTCTT	0.567													16	184					0	0	1	0	0	A	7188364	C	A	7188364	3	1	382	1	0	0	0	0	1	0	0	0	1972	826	29	4	531	4	C1R	12	7188364	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		7188364	126663531	13	6383											
ABCC9	10060	broad.mit.edu	37	chr12	21970200	21970200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccatctggacctccagGtcagccaagttcctcacaac	7	17	3	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:21970200G>A	uc001rfh.3	-	30	3833	c.3813C>T	c.(3811-3813)gaC>gaT	p.D1271D	ABCC9_uc001rfi.1_Silent_p.D1271D	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1271	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGACCTCCAGGTCAGCCAAGT	0.368													16	179					0	0	1	0	0	A	21970200	G	A	21970200	2	1	382	1	0	0	0	0	0	0	0	1	59	1252	44	2		2	ABCC9	12	21970200	Silent	SNP	G	TCGA-H2-A421-01A-11D-A23M-08	14781836	21970200	111881695	14	6384											
F10	2159	broad.mit.edu	37	chr13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttccgcatgaacgtggCgcctgcctgcctccccgagc	10	19	0	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr13:113803380C>T	uc001vsx.3	+	7	1073	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	339	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGAACGTGGCGCCTGCCTGC	0.637													47	118					0	0	1	0	0	T	113803380	C	T	113803380	3	4	382	1	0	0	0	0	1	0	0	0	5336	768	27	1	1046	1	F10	13	113803380	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		113803380	1366498	15	6385											
CLEC16A	23274	broad.mit.edu	37	chr16	11217709	11217709	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccatcctccaggccaccttCatcttctcagaccacatccg	4	20	3	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr16:11217709C>T	uc021tcy.1	+	20	2609	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	CLEC16A_uc002dan.4_Silent_p.F775F|CLEC16A_uc002dao.3_Silent_p.F791F|CLEC16A_uc002dap.3_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	793								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGCCACCTTCATCTTCTCAG	0.602													9	88					0	0	1	0	0	T	11217709	C	T	11217709	2	4	382	1	0	0	0	0	0	0	0	1	3500	825	29	2		2	CLEC16A	16	11217709	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		11217709	79137044	16	6386											
DNAH9	1770	broad.mit.edu	37	chr17	11872643	11872643	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcattacagaggcaaagctGaaggatctgacaccccctat	8	11	2	3			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:11872643G>A	uc002gne.3	+	68	13328	c.13260G>A	c.(13258-13260)ctG>ctA	p.L4420L	DNAH9_uc010coo.3_Silent_p.L3638L|DNAH9_uc002gnf.3_Silent_p.L732L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4420					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCAAAGCTGAAGGATCTGA	0.512													12	152					0	0	1	0	0	A	11872643	G	A	11872643	2	1	382	1	0	0	0	0	0	0	0	1	4608	1277	45	2		2	DNAH9	17	11872643	Silent	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		11872643	69322567	17	6387											
MYO15A	51168	broad.mit.edu	37	chr17	18022676	18022676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcctgggggccggctcCggaggttcccccgcagccgc	17	17	0	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:18022676C>T	uc021trm.1	+	0	781	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	MYO15A_uc021trl.1_Missense_Mutation_p.R188W	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	188	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCGGCTCCGGAGGTTCCC	0.711													25	44					0	0	1	0	0	T	18022676	C	T	18022676	3	4	382	1	0	0	0	0	1	0	0	0	10063	643	23	1	564	1	MYO15A	17	18022676	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	6150033	18022676	63172534	18	6388											
EXOC7	23265	broad.mit.edu	37	chr17	74084631	74084631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcttgttctttgtgcTggcagccgtgccctgaggaa	14	10	1	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:74084631T>C	uc002jqs.3	-	10	1461	c.1366A>G	c.(1366-1368)Agc>Ggc	p.S456G	EXOC7_uc010dgv.2_Missense_Mutation_p.S352G|EXOC7_uc010wsv.2_Missense_Mutation_p.S364G|EXOC7_uc010wsw.2_Missense_Mutation_p.S428G|EXOC7_uc002jqq.3_Missense_Mutation_p.S405G|EXOC7_uc010wsx.2_Missense_Mutation_p.S397G|EXOC7_uc002jqr.3_Missense_Mutation_p.S374G	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	456					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCTTTGTGCTGGCAGCCGTG	0.597													5	35					0	0	1	0	0	C	74084631	T	C	74084631	3	2	382	1	0	0	0	0	1	0	0	0	5310	1580	55	3	881	3	EXOC7	17	74084631	Missense_Mutation	SNP	T	TCGA-H2-A421-01A-11D-A23M-08	56061955	74084631	7110579	19	6389											
LAMA3	3909	broad.mit.edu	37	chr18	21501533	21501533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatctgggaggaattccaAttgcaatcagggaaaggtaa	11	5	2	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr18:21501533A>G	uc002kuq.3	+	61	8247	c.8161A>G	c.(8161-8163)Att>Gtt	p.I2721V	LAMA3_uc002kur.3_Missense_Mutation_p.I2665V|LAMA3_uc002kus.4_Missense_Mutation_p.I1112V|LAMA3_uc002kut.4_Missense_Mutation_p.I1056V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2721	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAATTCCAATTGCAATCAG	0.333													9	121					0	0	1	0	0	G	21501533	A	G	21501533	3	3	382	1	0	0	0	0	1	0	0	0	8607	101	4	3	8582	3	LAMA3	18	21501533	Missense_Mutation	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		21501533	56575715	20	6390											
TTC9B	148014	broad.mit.edu	37	chr19	40722102	40722102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccgagtctgggacccagCcccactgtcttcccgctgga	10	17	2	0			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr19:40722102C>T	uc002onc.3	-	2	706	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN	Homo sapiens tetratricopeptide repeat domain 9B (TTC9B), mRNA.	230							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGGGACCCAGCCCCACTGTCT	0.602													10	148					0	0	1	0	0	T	40722102	C	T	40722102	3	4	382	1	0	0	0	0	1	0	0	0	16713	739	26	2	35	2	TTC9B	19	40722102	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		40722102	18406881	21	6391											
MYBL2	4605	broad.mit.edu	37	chr20	42331451	42331451	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggctctgtcccctgtcactGagaatagcaccagtctgtcc	9	14	3	1			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:42331451G>A	uc002xlb.1	+	7	1488	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MYBL2_uc010zwj.1_Missense_Mutation_p.E401K	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	425						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGTCACTGAGAATAGCAC	0.612													13	98					0	0	1	0	0	A	42331451	G	A	42331451	3	1	382	1	0	0	0	0	1	0	0	0	10010	1291	45	2	1303	2	MYBL2	20	42331451	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		42331451	20694069	22	6392											
PLTP	5360	broad.mit.edu	37	chr20	44539816	44539816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgtagtagaagtggcCttctttgccccgcaggtccg	13	10	1	1	rs139898818	byFrequency	TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:44539816C>A	uc002xqm.2	-	1	770	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C	PLTP_uc002xql.2_5'Flank|PLTP_uc010zxj.2_Missense_Mutation_p.G59C|PLTP_uc002xqq.2_Missense_Mutation_p.G28C|PLTP_uc002xqn.2_Missense_Mutation_p.G59C|PLTP_uc002xqo.2_Missense_Mutation_p.G59C	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	59					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TAGAAGTGGCCTTCTTTGCCC	0.617													15	158					0	0	1	0	0	A	44539816	C	A	44539816	3	1	382	1	0	0	0	0	1	0	0	0	12114	681	24	4	1362	4	PLTP	20	44539816	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	2208365	44539816	18485704	23	6393											
MAGEC1	9947	broad.mit.edu	37	chrX	140996442	140996442	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcattaagaggaaagtAgtagagtttttggccatgct	12	4	1	2			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chrX:140996442A>G	uc004fbt.3	+	3	3576	c.3252A>G	c.(3250-3252)gtA>gtG	p.V1084V	MAGEC1_uc010nsl.2_Silent_p.V151V|MAGEC1_uc022cfi.1_Silent_p.V743V	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1084	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGAAAGTAGTAGAGTTTT	0.458										HNSCC(15;0.026)			100	233					0	0	1	0	0	G	140996442	A	G	140996442	2	3	382	1	0	0	0	0	0	0	0	1	9180	407	15	3		3	MAGEC1	23	140996442	Silent	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		140996442	14274118	24	6394											
SHC1	6464	broad.mit.edu	37	chr1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacctgtttgcagtctgCggccatgaggttgaggctgc	13	11	1	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:154940985C>T	uc001ffw.3	-	3	957	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_uc001ffv.3_Missense_Mutation_p.A246T|SHC1_uc001ffx.3_Missense_Mutation_p.A136T|SHC1_uc001ffy.3_Missense_Mutation_p.A136T|SHC1_uc001ffz.1_Missense_Mutation_p.A17T	NM_001130040	NP_003020	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 3, mRNA.	246	PID.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													5	469					0	0	1	0	0	T	154940985	C	T	154940985	3	4	383	1	0	0	0	0	1	0	0	0	14270	768	27	1	1054	1	SHC1	1	154940985	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		154940985	94309636	1	6395											
PGBD2	267002	broad.mit.edu	37	chr1	249211398	249211398	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttctgggaaacctctccCgattcacatcatcatcttgt	6	12	6	0			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:249211398C>A	uc001ifh.3	+	2	762	c.615C>A	c.(613-615)ccC>ccA	p.P205P	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Silent_p.P202P|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	205								p.P205P(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAACCTCTCCCGATTCACATC	0.398													4	203					0	0	1	0	0	A	249211398	C	A	249211398	2	1	383	1	0	0	0	0	0	0	0	1	11781	639	23	4		4	PGBD2	1	249211398	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	94270413	249211398	39223	2	6396											
PLA2R1	22925	broad.mit.edu	37	chr2	160869870	160869870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caattttgtaacagaatccaCcatgtctctcccatccctta	3	14	1	1			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr2:160869870C>A	uc002ube.2	-	9	1780	c.1568G>T	c.(1567-1569)gGt>gTt	p.G523V	PLA2R1_uc010zcp.2_Missense_Mutation_p.G523V|PLA2R1_uc002ubf.3_Missense_Mutation_p.G523V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	523	C-type lectin 3.			RHG -> ETC (in Ref. 1; AAA70110/ AAC50163).	endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACAGAATCCACCATGTCTCTC	0.378													16	43					0	0	1	0	0	A	160869870	C	A	160869870	3	1	383	1	0	0	0	0	1	0	0	0	12010	507	18	4	2915	4	PLA2R1	2	160869870	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		160869870	82329503	3	6397											
TTN	7273	broad.mit.edu	37	chr2	179529585	179529585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtgacttgtacctttaaCtgatgggggttctctttttt	10	6	1	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr2:179529585C>A	uc010zfk.1	-	10	1098	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsy.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11394	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G183E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCTTTAACTGATGGGGGT	0.383													5	15					0	0	1	0	0	A	179529585	C	A	179529585	3	1	383	1	0	0	0	0	1	0	0	0	16732	580	20	4		4	TTN	2	179529585	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	18659715	179529585	63669788	4	6398											
LRPAP1	4043	broad.mit.edu	37	chr4	3534117	3534117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggagcccgcgcagaaacGacctgaccctccgcggcgcc	13	19	0	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:3534117G>A	uc003ghh.4	-	0	108	c.23C>T	c.(22-24)tCg>tTg	p.S8L		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	8					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCAGAAACGACCTGACCCT	0.711													3	4					0	0	1	0	0	A	3534117	G	A	3534117	3	1	383	1	0	0	0	0	1	0	0	0	8964	1059	37	1	1082	1	LRPAP1	4	3534117	Missense_Mutation	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		3534117	187620159	5	6399											
ANXA3	306	broad.mit.edu	37	chr4	79525503	79525503	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaattgaccttttggacattCgaacagagttcaagaagcat	8	7	1	3			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:79525503C>A	uc003hld.3	+	11	1172	c.862C>A	c.(862-864)Cga>Aga	p.R288R		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	288					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTTGGACATTCGAACAGAGTT	0.368													3	94					0	0	1	0	0	A	79525503	C	A	79525503	2	1	383	1	0	0	0	0	0	0	0	1	719	876	31	4		4	ANXA3	4	79525503	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	75991386	79525503	111628773	6	6400											
RGMB	285704	broad.mit.edu	37	chr5	98115491	98115491	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgggtatcagtgaccTcatgagccagaggaattgtt	13	7	2	3			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr5:98115491T>A	uc003knc.3	+	3	869	c.467T>A	c.(466-468)cTc>cAc	p.L156H	RGMB_uc003knb.2_Missense_Mutation_p.L156H	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	115					BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ATCAGTGACCTCATGAGCCAG	0.557													3	65					0	0	1	0	0	A	98115491	T	A	98115491	3	1	383	1	0	0	0	0	1	0	0	0	13281	1551	54	5	477	5	RGMB	5	98115491	Missense_Mutation	SNP	T	TCGA-IM-A3EB-01A-11D-A202-08		98115491	82799769	7	6401											
HS3ST5	222537	broad.mit.edu	37	chr6	114379018	114379018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaattgtgatttgctgAgggtaggaaaaaggcatctt	11	4	2	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:114379018A>G	uc003pwh.4	-	4	964	c.444T>C	c.(442-444)ccT>ccC	p.P148P	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwg.4_Silent_p.P148P	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	148					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGATTTGCTGAGGGTAGGAAA	0.373													67	133					0	0	1	0	0	G	114379018	A	G	114379018	2	3	383	1	0	0	0	0	0	0	0	1	7368	291	11	3		3	HS3ST5	6	114379018	Silent	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08		114379018	56736049	8	6402											
LAMA2	3908	broad.mit.edu	37	chr6	129588337	129588337	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctttggtcatgcggagtcCtgtgatgacgtcactggaga	14	8	2	3			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:129588337C>A	uc021zfb.1	+	15	2400	c.2295C>A	c.(2293-2295)tcC>tcA	p.S765S	LAMA2_uc003qbn.3_Silent_p.S765S|LAMA2_uc003qbo.3_Silent_p.S765S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	765	Laminin EGF-like 6.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S765Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCGGAGTCCTGTGATGACG	0.488													4	227					0	0	1	0	0	A	129588337	C	A	129588337	2	1	383	1	0	0	0	0	0	0	0	1	8606	668	24	4		4	LAMA2	6	129588337	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	15209319	129588337	41526730	9	6403											
C7orf42	55069	broad.mit.edu	37	chr7	66410130	66410130	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctggaggactcgggcccGgtgaatatctcagtctcaat	12	12	2	1			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:66410130G>T	uc003tvk.3	+	2	591	c.327G>T	c.(325-327)ccG>ccT	p.P109P	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	109						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						ACTCGGGCCCGGTGAATATCT	0.582													3	88					0	0	1	0	0	T	66410130	G	T	66410130	2	4	383	1	0	0	0	0	0	0	0	1	2392	1103	39	4		4	C7orf42	7	66410130	Silent	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		66410130	92728533	10	6404											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	59					0	0	1	0	0	T	140453136	A	T	140453136	3	4	383	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08	74043006	140453136	18685527	11	6405											
OR1K1	392392	broad.mit.edu	37	chr9	125563190	125563190	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgcagtctacttccaggcCacatcccgacgcgaggcaga	10	14	1	1			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr9:125563190C>A	uc011lze.2	+	0	789	c.789C>A	c.(787-789)gcC>gcA	p.A263A		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ACTTCCAGGCCACATCCCGAC	0.612													4	146					0	0	1	0	0	A	125563190	C	A	125563190	2	1	383	1	0	0	0	0	0	0	0	1	10962	581	21	4		4	OR1K1	9	125563190	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		125563190	15650241	12	6406											
NAP1L4	4676	broad.mit.edu	37	chr11	2981037	2981037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaccttcaaaggaaaAgggatcagccttatctggtt	10	9	4	0			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:2981037A>G	uc010qxm.2	-	9	993	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	NAP1L4_uc001lxc.3_Missense_Mutation_p.F237L|NAP1L4_uc010qxn.2_Missense_Mutation_p.F237L	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	237					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCAAAGGAAAAGGGATCAGCC	0.373													3	69					0	0	1	0	0	G	2981037	A	G	2981037	3	3	383	1	0	0	0	0	1	0	0	0	10159	72	3	3	446	3	NAP1L4	11	2981037	Missense_Mutation	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08		2981037	132025479	13	6407											
C11orf65	160140	broad.mit.edu	37	chr11	108332225	108332225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaacttttccaggccTgctgaatgactctggcagcc	10	12	1	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:108332225T>C	uc001pkh.3	-	1	132	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	C11orf65_uc010rvx.1_Missense_Mutation_p.Q21R|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	21										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTTCCAGGCCTGCTGAATGAC	0.299													3	79					0	0	1	0	0	C	108332225	T	C	108332225	3	2	383	1	0	0	0	0	1	0	0	0	1655	1580	55	3	911	3	C11orf65	11	108332225	Missense_Mutation	SNP	T	TCGA-IM-A3EB-01A-11D-A202-08	105351188	108332225	26674291	14	6408											
CSRNP2	81566	broad.mit.edu	37	chr12	51467752	51467752	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgcccagagagctaccacCctggctgggcacactggtaa	11	14	0	1			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr12:51467752C>G	uc021qxx.1	-	2	777	c.265G>C	c.(265-267)Ggt>Cgt	p.G89R	CSRNP2_uc001rxu.2_Missense_Mutation_p.G89R	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	89					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GAGCTACCACCCTGGCTGGGC	0.552													9	118					0	0	1	0	0	G	51467752	C	G	51467752	3	3	383	1	0	0	0	0	1	0	0	0	3964	623	22	4	1378	4	CSRNP2	12	51467752	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		51467752	82384143	15	6409											
OR6S1	341799	broad.mit.edu	37	chr14	21109731	21109731	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaacacattgcctgtcagAttcaggagatagacaagaag	9	8	3	4			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr14:21109731A>T	uc001vxv.1	-	0	120	c.120T>A	c.(118-120)aaT>aaA	p.N40K		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCCTGTCAGATTCAGGAGAT	0.473													19	119					0	0	1	0	0	T	21109731	A	T	21109731	3	4	383	1	0	0	0	0	1	0	0	0	11209	330	12	5	879	5	OR6S1	14	21109731	Missense_Mutation	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08		21109731	86239809	16	6410											
CASP14	23581	broad.mit.edu	37	chr19	15166255	15166255	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggatacatcgcctacCgacatgatcagaaaggctca	8	13	2	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr19:15166255C>T	uc010dzv.2	+	5	747	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	179					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.R179*(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CATCGCCTACCGACATGATCA	0.537													3	105					0	0	1	0	0	T	15166255	C	T	15166255	4	4	383	1	0	0	0	0	0	1	0	0	2670	644	23	1	553	1	CASP14	19	15166255	Nonsense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		15166255	43962728	17	6411											
SAMSN1	64092	broad.mit.edu	37	chr21	15893509	15893509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgataaagaattattccGaaaacgatcgaaattcccaa	5	7	0	2			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr21:15893509G>A	uc002yjv.1	-	2	470	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	SAMSN1_uc002yju.1_Missense_Mutation_p.R31W|SAMSN1_uc010gky.1_Intron	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	31					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAATTATTCCGAAAACGATCG	0.299													5	29					0	0	1	0	0	A	15893509	G	A	15893509	3	1	383	1	0	0	0	0	1	0	0	0	13830	1057	37	1	1058	1	SAMSN1	21	15893509	Missense_Mutation	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		15893509	32236386	18	6412											
SYNPO2	171024	broad.mit.edu	37	chr4	119944646	119944646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagatgaagtggtttccaTcaatggcaacccttgtgcag	13	8	1	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr4:119944646T>G	uc010inb.3	+	1	363	c.167T>G	c.(166-168)aTc>aGc	p.I56S	SYNPO2_uc010ina.3_Missense_Mutation_p.I56S|SYNPO2_uc003icm.4_Missense_Mutation_p.I56S|SYNPO2_uc011cgh.2_Missense_Mutation_p.I56S|SYNPO2_uc010inc.3_5'UTR	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	56	PDZ.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.I56I(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGGTTTCCATCAATGGCAAC	0.438													3	80					0	0	1	0	0	G	119944646	T	G	119944646	3	3	384	1	0	0	0	0	1	0	0	0	15454	1435	50	5	173	5	SYNPO2	4	119944646	Missense_Mutation	SNP	T	TCGA-IM-A3ED-01A-11D-A202-08		119944646	71209630	1	6413											
SLC7A11	23657	broad.mit.edu	37	chr4	139163108	139163108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgactttcctcttcagcTgcactttctcctgcccaggt	7	14	3	1			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr4:139163108T>C	uc021xrw.1	-	0	396	c.116A>G	c.(115-117)cAg>cGg	p.Q39R		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	39					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CCTCTTCAGCTGCACTTTCTC	0.527													3	91					0	0	1	0	0	C	139163108	T	C	139163108	3	2	384	1	0	0	0	0	1	0	0	0	14694	1580	55	3	1437	3	SLC7A11	4	139163108	Missense_Mutation	SNP	T	TCGA-IM-A3ED-01A-11D-A202-08	19218462	139163108	51991168	2	6414											
PRDM9	56979	broad.mit.edu	37	chr5	23527796	23527796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtctgcagggagtgtgggCggggctttagcgataggtca	18	7	2	0			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr5:23527796C>T	uc003jgo.3	+	10	2781	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	867					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.562										HNSCC(3;0.000094)			34	82					0	0	1	0	0	T	23527796	C	T	23527796	3	4	384	1	0	0	0	0	1	0	0	0	12463	759	27	1	2637	1	PRDM9	5	23527796	Missense_Mutation	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		23527796	157387464	3	6415											
CLIC5	53405	broad.mit.edu	37	chr6	45917096	45917096	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgcgtgccgggggctaGgttgtgcaggtcagctggct	20	9	1	0			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr6:45917096G>C	uc003oxv.3	-	2	779	c.673C>G	c.(673-675)Cta>Gta	p.L225V	CLIC5_uc003oxu.3_Missense_Mutation_p.L66V|CLIC5_uc003oxx.3_Missense_Mutation_p.L66V	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	225					female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCGGGGGCTAGGTTGTGCAGG	0.542													48	80					0	0	1	0	0	C	45917096	G	C	45917096	3	2	384	1	0	0	0	0	1	0	0	0	3529	991	35	4	575	4	CLIC5	6	45917096	Missense_Mutation	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08		45917096	125197971	4	6416											
LCA5	167691	broad.mit.edu	37	chr6	80228599	80228599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagtacctggacttcctgCtctttcccccattgttttga	6	13	2	1			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr6:80228599C>T	uc003piy.3	-	2	625	c.13G>A	c.(13-15)Gca>Aca	p.A5T	LCA5_uc003pix.3_Missense_Mutation_p.A5T|LCA5_uc011dyr.2_Missense_Mutation_p.A5T	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	5					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGACTTCCTGCTCTTTCCCCC	0.388													65	174					0	0	1	0	0	T	80228599	C	T	80228599	3	4	384	1	0	0	0	0	1	0	0	0	8656	797	28	2	2108	2	LCA5	6	80228599	Missense_Mutation	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08	34311503	80228599	90886468	5	6417											
KLHL32	114792	broad.mit.edu	37	chr6	97561919	97561919	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctgtatatcattggtggGaaaaagcgcgaggtctgcaa	12	7	3	0			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr6:97561919G>A	uc010kcm.1	+	6	1360	c.888G>A	c.(886-888)ggG>ggA	p.G296G	KLHL32_uc003poy.3_Silent_p.G296G|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Silent_p.G260G|KLHL32_uc011eae.1_Silent_p.G227G|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	296										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCATTGGTGGGAAAAAGCGCG	0.517													18	44					0	0	1	0	0	A	97561919	G	A	97561919	2	1	384	1	0	0	0	0	0	0	0	1	8386	1161	41	2		2	KLHL32	6	97561919	Silent	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08	17333320	97561919	73553148	6	6418											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	61					0	0	1	0	0	T	140453136	A	T	140453136	3	4	384	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3ED-01A-11D-A202-08		140453136	18685527	7	6419											
EPHB6	2051	broad.mit.edu	37	chr7	142565403	142565403	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccggaaagactctccttggtGatcggctccatcctgggggc	13	13	1	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr7:142565403G>C	uc011kst.2	+	11	2575	c.1788G>C	c.(1786-1788)gtG>gtC	p.V596V	EPHB6_uc011ksu.2_Silent_p.V596V|EPHB6_uc003wbs.3_Silent_p.V304V|EPHB6_uc003wbt.3_Silent_p.V70V|EPHB6_uc003wbu.3_Silent_p.V304V|EPHB6_uc003wbv.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	596						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCTCCTTGGTGATCGGCTCCA	0.637													10	12					0	0	1	0	0	C	142565403	G	C	142565403	2	2	384	1	0	0	0	0	0	0	0	1	5178	1277	45	4		4	EPHB6	7	142565403	Silent	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08	2112267	142565403	16573260	8	6420											
GRIN3A	116443	broad.mit.edu	37	chr9	104432410	104432410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacagcagccaagtttgCcgtgtatgtggaaaggcaaa	12	8	0	1			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr9:104432410C>T	uc004bbp.2	-	2	2885	c.2284G>A	c.(2284-2286)Gca>Aca	p.A762T	GRIN3A_uc004bbq.1_Missense_Mutation_p.A762T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	762					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCCAAGTTTGCCGTGTATGTG	0.418													3	78					0	0	1	0	0	T	104432410	C	T	104432410	3	4	384	1	0	0	0	0	1	0	0	0	6783	739	26	2	1091	2	GRIN3A	9	104432410	Missense_Mutation	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		104432410	36781021	9	6421											
CACNA1B	774	broad.mit.edu	37	chr9	140953611	140953611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgttctccatggaatgCgtgctgaagatcatcgcctt	9	11	2	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr9:140953611C>T	uc004cog.3	+	29	4699	c.4554C>T	c.(4552-4554)tgC>tgT	p.C1518C	CACNA1B_uc022bqn.1_Silent_p.C1518C|CACNA1B_uc011mfd.2_Silent_p.C1119C|CACNA1B_uc004coi.3_Silent_p.C732C	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1518					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATGGAATGCGTGCTGAAGA	0.507													13	15					0	0	1	0	0	T	140953611	C	T	140953611	2	4	384	1	0	0	0	0	0	0	0	1	2539	776	27	1		1	CACNA1B	9	140953611	Silent	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08	36521201	140953611	259820	10	6422											
ANK3	288	broad.mit.edu	37	chr10	61835632	61835632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaaggtgaagatattagCggtgctgctgatgtaataat	11	3	0	3			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr10:61835632C>T	uc001jky.3	-	36	5345	c.5007G>A	c.(5005-5007)ccG>ccA	p.P1669P	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1669	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGATATTAGCGGTGCTGCTG	0.393													27	77					0	0	1	0	0	T	61835632	C	T	61835632	2	4	384	1	0	0	0	0	0	0	0	1	622	755	27	1		1	ANK3	10	61835632	Silent	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		61835632	73699115	11	6423											
TMEM132A	54972	broad.mit.edu	37	chr11	60694815	60694815	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctcccgatctgagacCtttctgctcctacagccctg	8	16	2	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr11:60694815C>A	uc001nqi.3	+	1	433	c.240C>A	c.(238-240)acC>acA	p.T80T	TMEM132A_uc001nqj.3_Silent_p.T80T|TMEM132A_uc001nqk.3_Silent_p.T93T|TMEM132A_uc001nql.1_Silent_p.T93T	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	80						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GATCTGAGACCTTTCTGCTCC	0.647													4	127					0	0	1	0	0	A	60694815	C	A	60694815	2	1	384	1	0	0	0	0	0	0	0	1	16042	668	24	4		4	TMEM132A	11	60694815	Silent	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		60694815	74311701	12	6424											
FBXW8	26259	broad.mit.edu	37	chr12	117402520	117402520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agatatacatcaggggatgtGagagtgtgggacacccgcac	14	8	1	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr12:117402520G>A	uc001twg.1	+	4	778	c.696G>A	c.(694-696)gtG>gtA	p.V232V	FBXW8_uc001twf.1_Silent_p.V166V	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	232							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CAGGGGATGTGAGAGTGTGGG	0.522													75	183					0	0	1	0	0	A	117402520	G	A	117402520	2	1	384	1	0	0	0	0	0	0	0	1	5770	1277	45	2		2	FBXW8	12	117402520	Silent	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08		117402520	16449375	13	6425											
MIA2	117153	broad.mit.edu	37	chr14	39716388	39716388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtagttgttgaaagtAtggaacaggatcgtattcca	11	4	0	2			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr14:39716388A>G	uc001wux.3	+	3	804	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	MIA2_uc010amy.2_Missense_Mutation_p.M135V	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	204						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGTTGAAAGTATGGAACAGGA	0.433													3	79					0	0	1	0	0	G	39716388	A	G	39716388	3	3	384	1	0	0	0	0	1	0	0	0	9564	449	16	3	624	3	MIA2	14	39716388	Missense_Mutation	SNP	A	TCGA-IM-A3ED-01A-11D-A202-08		39716388	67633152	14	6426											
NOTCH3	4854	broad.mit.edu	37	chr19	15289709	15289709	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactggcctccatgctggcaTggctgggactcgcagggaga	15	12	0	1			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr19:15289709T>A	uc002nan.3	-	22	3838	c.3762A>T	c.(3760-3762)ccA>ccT	p.P1254P	NOTCH3_uc002nao.1_Silent_p.P1202P	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1254	EGF-like 32.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATGCTGGCATGGCTGGGACT	0.652													5	12					0	0	1	0	0	A	15289709	T	A	15289709	2	1	384	1	0	0	0	0	0	0	0	1	10550	1451	51	5		5	NOTCH3	19	15289709	Silent	SNP	T	TCGA-IM-A3ED-01A-11D-A202-08		15289709	43839274	15	6427											
ERRFI1	54206	broad.mit.edu	37	chr1	8074413	8074413	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagatggaccattttcTgcaaagcagtggccattcat	9	8	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:8074413T>A	uc001aoz.3	-	3	495	c.246A>T	c.(244-246)gcA>gcT	p.A82A	ERRFI1_uc001apa.1_Silent_p.A7A	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	82					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GACCATTTTCTGCAAAGCAGT	0.443													4	256					0	0	1	0	0	A	8074413	T	A	8074413	2	1	385	1	0	0	0	0	0	0	0	1	5244	1567	55	5		5	ERRFI1	1	8074413	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		8074413	241176208	1	6428											
ELOVL1	64834	broad.mit.edu	37	chr1	43830608	43830608	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccctacttaccctaagtgcCtcagggctgttggaatagtc	9	13	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:43830608C>G	uc001cjb.3	-	3	437	c.309G>C	c.(307-309)gaG>gaC	p.E103D	ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Intron	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.	103					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTAAGTGCCTCAGGGCTGT	0.557													15	30					0	0	1	0	0	G	43830608	C	G	43830608	3	3	385	1	0	0	0	0	1	0	0	0	5073	680	24	4	550	4	ELOVL1	1	43830608	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	35756195	43830608	205420013	2	6429											
ADAM30	11085	broad.mit.edu	37	chr1	120436924	120436924	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgacgagggaatcgcccctCtgagcagtcctggaggccca	13	13	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:120436924C>A	uc001eij.3	-	0	2224	c.2036G>T	c.(2035-2037)aGa>aTa	p.R679I		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	679					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATCGCCCCTCTGAGCAGTCC	0.468													3	98					0	0	1	0	0	A	120436924	C	A	120436924	3	1	385	1	0	0	0	0	1	0	0	0	248	913	32	4	340	4	ADAM30	1	120436924	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	76606316	120436924	128813697	3	6430											
NUDT17	200035	broad.mit.edu	37	chr1	145588735	145588735	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctccagtggacacagaggGagttgcagtcccttgtgact	12	12	0	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:145588735G>A	uc001eof.1	-	0	1727	c.693C>T	c.(691-693)ctC>ctT	p.L231L	NUDT17_uc001eoe.3_Intron			P0C025	NUD17_HUMAN	Homo sapiens cDNA FLJ34433 fis, clone HLUNG2000926.	0	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACACAGAgggagttgcagtc	0.537											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0	A	145588735	G	A	145588735	2	1	385	1	0	0	0	0	0	0	0	1	10734	1189	41	2		2	NUDT17	1	145588735	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	25151811	145588735	103661886	4	6431											
SETDB1	9869	broad.mit.edu	37	chr1	150936158	150936158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgccaattctatgatggcGaggagtcttgctacatcatt	9	10	3	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:150936158G>A	uc001evu.2	+	19	3800	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	SETDB1_uc001evv.2_Missense_Mutation_p.E1204K|SETDB1_uc009wmg.2_Missense_Mutation_p.E1204K	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	1204	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATGATGGCGAGGAGTCTTG	0.517													129	148					0	0	1	0	0	A	150936158	G	A	150936158	3	1	385	1	0	0	0	0	1	0	0	0	14138	1059	37	1	3684	1	SETDB1	1	150936158	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	5347423	150936158	98314463	5	6432											
FLG	2312	broad.mit.edu	37	chr1	152275908	152275908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggagccgtctcctgaCtgttcctcattacgtgtttc	9	13	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:152275908C>T	uc001ezu.1	-	2	11490	c.11454G>A	c.(11452-11454)caG>caA	p.Q3818Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3818	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTCCTGACTGTTCCTCAT	0.582									Ichthyosis				5	611					0	0	1	0	0	T	152275908	C	T	152275908	2	4	385	1	0	0	0	0	0	0	0	1	5922	564	20	2		2	FLG	1	152275908	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	1339750	152275908	96974713	6	6433											
ASH1L	55870	broad.mit.edu	37	chr1	155307970	155307970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgttcctcaggggtacaggTtgactggggttcttgactac	13	9	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:155307970T>C	uc009wqq.3	-	26	9208	c.8728A>G	c.(8728-8730)Acc>Gcc	p.T2910A	ASH1L_uc001fkt.3_Missense_Mutation_p.T2905A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2910					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGGTACAGGTTGACTGGGGT	0.488													34	89					0	0	1	0	0	C	155307970	T	C	155307970	3	2	385	1	0	0	0	0	1	0	0	0	1041	1725	60	3	189	3	ASH1L	1	155307970	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	3032062	155307970	93942651	7	6434											
HEATR1	55127	broad.mit.edu	37	chr1	236729279	236729279	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attcatcaagctttgtatctGatgctggacactaaactcac	6	10	4	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:236729279G>C	uc001hyd.2	-	30	4527	c.4375C>G	c.(4375-4377)Cag>Gag	p.Q1459E	HEATR1_uc009xgh.2_Missense_Mutation_p.Q621E	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1459					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGTATCTGATGCTGGACA	0.378													34	58					0	0	1	0	0	C	236729279	G	C	236729279	3	2	385	1	0	0	0	0	1	0	0	0	7027	1299	45	4	2119	4	HEATR1	1	236729279	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	81421309	236729279	12521342	8	6435											
IL1R1	3554	broad.mit.edu	37	chr2	102781357	102781357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttggtataaagatgacaGcaagacacctgtatctacag	8	8	1	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:102781357G>A	uc002tbq.3	+	3	503	c.185G>A	c.(184-186)aGc>aAc	p.S62N	IL1R1_uc010fix.3_Missense_Mutation_p.S62N|IL1R1_uc002tbr.3_Missense_Mutation_p.S62N	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	62	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AAAGATGACAGCAAGACACCT	0.383													3	92					0	0	1	0	0	A	102781357	G	A	102781357	3	1	385	1	0	0	0	0	1	0	0	0	7658	971	34	2	191	2	IL1R1	2	102781357	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		102781357	140418016	9	6436											
ZNF804A	91752	broad.mit.edu	37	chr2	185801992	185801992	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgctgcaaaatggaagcagaGaatagttacactgaaaatgc	10	7	0	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:185801992G>C	uc002uph.3	+	3	2463	c.1869G>C	c.(1867-1869)gaG>gaC	p.E623D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	623						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGAAGCAGAGAATAGTTACA	0.338													5	262					0	0	1	0	0	C	185801992	G	C	185801992	3	2	385	1	0	0	0	0	1	0	0	0	18167	933	33	4	1883	4	ZNF804A	2	185801992	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	83020635	185801992	57397381	10	6437											
COL4A4	1286	broad.mit.edu	37	chr2	227945177	227945177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaggtcctggatccccTttttctccagcatgtccatc	8	14	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:227945177T>C	uc021vxr.1	-	22	1886	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_uc021vxs.1_Silent_p.K595K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	595	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463													3	221					0	0	1	0	0	C	227945177	T	C	227945177	2	2	385	1	0	0	0	0	0	0	0	1	3693	1606	56	3		3	COL4A4	2	227945177	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	42143185	227945177	15254196	11	6438											
FANCD2	2177	broad.mit.edu	37	chr3	10106529	10106529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactttgcaaaagatggggGtccggtgacctcacaggaat	14	8	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr3:10106529G>A	uc003buw.3	+	22	2216	c.2138G>A	c.(2137-2139)gGt>gAt	p.G713D	FANCD2_uc003bux.1_Missense_Mutation_p.G713D|FANCD2_uc003buy.1_Missense_Mutation_p.G713D|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	713					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGATGGGGGTCCGGTGACC	0.463			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	243					0	0	1	0	0	A	10106529	G	A	10106529	3	1	385	1	0	0	0	0	1	0	0	0	5665	1261	44	2	2224	2	FANCD2	3	10106529	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		10106529	187915901	12	6439											
CPZ	8532	broad.mit.edu	37	chr4	8605771	8605771	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatccgcttcagccaccacTcctacgcccagatggtgcgt	8	17	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:8605771T>A	uc003glm.3	+	3	739	c.565T>A	c.(565-567)Tcc>Acc	p.S189T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.S178T|CPZ_uc003gln.3_Missense_Mutation_p.S52T	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	189					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCCACCACTCCTACGCCCA	0.697													5	67					0	0	1	0	0	A	8605771	T	A	8605771	3	1	385	1	0	0	0	0	1	0	0	0	3839	1551	54	5	579	5	CPZ	4	8605771	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		8605771	182548505	13	6440											
POLR2B	5431	broad.mit.edu	37	chr4	57889901	57889901	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagggtacttgtggtaTtcagtatagacaagaggtag	12	4	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:57889901T>G	uc003hcl.1	+	19	2883	c.2840T>G	c.(2839-2841)aTt>aGt	p.I947S	POLR2B_uc011cae.1_Missense_Mutation_p.I940S|POLR2B_uc011caf.1_Missense_Mutation_p.I872S|POLR2B_uc003hcm.1_Missense_Mutation_p.I440S	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	947					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACTTGTGGTATTCAGTATAGA	0.333													60	98					0	0	1	0	0	G	57889901	T	G	57889901	3	3	385	1	0	0	0	0	1	0	0	0	12215	1493	52	5	2918	5	POLR2B	4	57889901	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	49284130	57889901	133264375	14	6441											
DMXL1	1657	broad.mit.edu	37	chr5	118556676	118556676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatgctcgtgatgatttaaCagctgttcaaggtacaactc	8	9	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:118556676C>A	uc010jcl.1	+	36	8358	c.8177C>A	c.(8176-8178)aCa>aAa	p.T2726K	DMXL1_uc003ksd.2_Missense_Mutation_p.T2705K|DMXL1_uc021ycw.1_Missense_Mutation_p.T2532K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2705										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GATGATTTAACAGCTGTTCAA	0.388													3	100					0	0	1	0	0	A	118556676	C	A	118556676	3	1	385	1	0	0	0	0	1	0	0	0	4594	478	17	4	8256	4	DMXL1	5	118556676	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		118556676	62358584	15	6442											
PSD2	84249	broad.mit.edu	37	chr5	139216458	139216458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaagttcgggacaggcaCgaagaaggtgacgcgaatcc	14	9	0	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:139216458C>T	uc003leu.1	+	9	1671	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	489					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGGCACGAAGAAGGTG	0.592													6	201					0	0	1	0	0	T	139216458	C	T	139216458	3	4	385	1	0	0	0	0	1	0	0	0	12647	536	19	1	1500	1	PSD2	5	139216458	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	20659782	139216458	41698802	16	6443											
DBN1	1627	broad.mit.edu	37	chr5	176893991	176893991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgctcctgctccatccGctcctgctcgaacctgagcc	8	20	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:176893991G>A	uc003mgx.2	-	7	916	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	DBN1_uc003mgy.2_Missense_Mutation_p.R210W|DBN1_uc010jkn.1_Missense_Mutation_p.R160W|DBN1_uc003mgz.1_Missense_Mutation_p.R147W	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	210					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			TGCTCCATCCGCTCCTGCTCG	0.667													3	70					0	0	1	0	0	A	176893991	G	A	176893991	3	1	385	1	0	0	0	0	1	0	0	0	4252	1086	38	1	1353	1	DBN1	5	176893991	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	37677533	176893991	4021269	17	6444											
DNAH8	1769	broad.mit.edu	37	chr6	38749066	38749066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatgacccccctcttgctCgcaacatgccccctatagca	6	17	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:38749066C>T	uc021yzh.1	+	15	2285	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	DNAH8_uc003ooe.2_Missense_Mutation_p.R509C	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCTCTTGCTCGCAACATGCC	0.383													50	108					0	0	1	0	0	T	38749066	C	T	38749066	3	4	385	1	0	0	0	0	1	0	0	0	4607	884	31	1	1571	1	DNAH8	6	38749066	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		38749066	132366001	18	6445											
ARID1B	57492	broad.mit.edu	37	chr6	157528133	157528133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtccaatattgtccGtagcttgtcattcgtgcctg	10	10	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:157528133G>A	uc003qqn.3	+	19	5978	c.5978G>A	c.(5977-5979)cGt>cAt	p.R1993H	ARID1B_uc003qqo.3_Missense_Mutation_p.R1953H|ARID1B_uc003qqp.3_Missense_Mutation_p.R1940H	NM_020732	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.	1940					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1935H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AATATTGTCCGTAGCTTGTCA	0.557													5	263					0	0	1	0	0	A	157528133	G	A	157528133	3	1	385	1	0	0	0	0	1	0	0	0	914	1145	40	1	5936	1	ARID1B	6	157528133	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	118779067	157528133	13586934	19	6446											
SYTL3	94120	broad.mit.edu	37	chr6	159178397	159178397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacacagtccttccgctggcAtccgctccgggccaaggtga	11	15	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:159178397A>G	uc003qrp.3	+	14	1691	c.1292A>G	c.(1291-1293)cAt>cGt	p.H431R	SYTL3_uc003qrr.3_Missense_Mutation_p.H431R|SYTL3_uc003qro.3_Missense_Mutation_p.H363R|SYTL3_uc003qrs.3_Missense_Mutation_p.H363R|SYTL3_uc011efq.2_Missense_Mutation_p.H157R	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	431					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTCCGCTGGCATCCGCTCCGG	0.527													18	83					0	0	1	0	0	G	159178397	A	G	159178397	3	3	385	1	0	0	0	0	1	0	0	0	15481	217	8	3	1122	3	SYTL3	6	159178397	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	1650264	159178397	11936670	20	6447											
SLC22A2	6582	broad.mit.edu	37	chr6	160679691	160679691	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcccacgtagatgggcgcGaaggtagccgagagcagagc	16	10	0	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:160679691G>A	uc003qtf.3	-	0	273	c.99C>T	c.(97-99)ttC>ttT	p.F33F	SLC22A2_uc003qth.2_Silent_p.F33F	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	33					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AGATGGGCGCGAAGGTAGCCG	0.612													33	71					0	0	1	0	0	A	160679691	G	A	160679691	2	1	385	1	0	0	0	0	0	0	0	1	14450	1049	37	1		1	SLC22A2	6	160679691	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	1501294	160679691	10435376	21	6448											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				52	83					0	0	1	0	0	T	140453136	A	T	140453136	3	4	385	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		140453136	18685527	22	6449											
FUT10	84750	broad.mit.edu	37	chr8	33247184	33247184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctgctgaacgtggcaGtgtagttgaacaaggtgatc	13	7	0	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:33247184G>A	uc011lbi.2	-	3	825	c.659C>T	c.(658-660)aCt>aTt	p.T220I	FUT10_uc003xjc.3_Missense_Mutation_p.T177I|FUT10_uc003xjd.3_Missense_Mutation_p.T142I|FUT10_uc003xje.3_Missense_Mutation_p.T170I|FUT10_uc003xjf.3_Missense_Mutation_p.T108I|FUT10_uc003xjg.3_Missense_Mutation_p.T142I|FUT10_uc003xjh.3_Missense_Mutation_p.T170I			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	170					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.D220N(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GAACGTGGCAGTGTAGTTGAA	0.463													3	154					0	0	1	0	0	A	33247184	G	A	33247184	3	1	385	1	0	0	0	0	1	0	0	0	6102	1029	36	2	938	2	FUT10	8	33247184	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		33247184	113116838	23	6450											
ARMC1	55156	broad.mit.edu	37	chr8	66525624	66525624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggactgaagaatgtcaTagatttcagaggccagaagt	13	5	2	5			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:66525624T>C	uc003xvl.3	-	3	575	c.320A>G	c.(319-321)tAt>tGt	p.Y107C	ARMC1_uc011leo.2_Intron	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	107					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGAATGTCATAGATTTCAGA	0.348													52	77					0	0	1	0	0	C	66525624	T	C	66525624	3	2	385	1	0	0	0	0	1	0	0	0	949	1406	49	3	544	3	ARMC1	8	66525624	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	33278440	66525624	79838398	24	6451											
BNC2	54796	broad.mit.edu	37	chr9	16436640	16436640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgctatgacaggggtggCagctcctgaggtggcccgaa	15	10	0	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:16436640C>T	uc003zml.3	-	5	1692	c.1552G>A	c.(1552-1554)Gcc>Acc	p.A518T	BNC2_uc011lmw.2_Missense_Mutation_p.A423T|BNC2_uc003zmm.3_Missense_Mutation_p.A476T|BNC2_uc003zmq.1_Missense_Mutation_p.A532T|BNC2_uc003zmr.1_Missense_Mutation_p.A555T|BNC2_uc003zmp.1_Missense_Mutation_p.A546T|BNC2_uc010mij.1_Missense_Mutation_p.A440T|BNC2_uc011lmv.2_Missense_Mutation_p.A344T|BNC2_uc003zmo.1_Missense_Mutation_p.A440T|BNC2_uc003zmj.3_Missense_Mutation_p.A283T|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.A283T|BNC2_uc003zmn.1_Missense_Mutation_p.A283T	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACAGGGGTGGCAGCTCCTGAG	0.512													49	102					0	0	1	0	0	T	16436640	C	T	16436640	3	4	385	1	0	0	0	0	1	0	0	0	1475	710	25	2	1755	2	BNC2	9	16436640	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		16436640	124776791	25	6452											
TSTD2	158427	broad.mit.edu	37	chr9	100364973	100364973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttgacaggcagggcaGgtcaaaacgagctggcggca	15	10	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:100364973G>A	uc004axn.3	-	9	1817	c.1329C>T	c.(1327-1329)acC>acT	p.T443T	TSTD2_uc004axo.3_Silent_p.T217T	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	443										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGGCAGGGCAGGTCAAAACGA	0.527													3	126					0	0	1	0	0	A	100364973	G	A	100364973	2	1	385	1	0	0	0	0	0	0	0	1	16672	987	35	2		2	TSTD2	9	100364973	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	83928333	100364973	40848458	26	6453											
KIAA1958	158405	broad.mit.edu	37	chr9	115337082	115337082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacccaagcctcagactcAcgctggtccctcctgtgtag	8	15	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:115337082A>G	uc011lwx.1	+	1	897	c.722A>G	c.(721-723)cAc>cGc	p.H241R	KIAA1958_uc004bgf.1_Missense_Mutation_p.H241R	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	241										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCAGACTCACGCTGGTCCC	0.532													50	132					0	0	1	0	0	G	115337082	A	G	115337082	3	3	385	1	0	0	0	0	1	0	0	0	8264	159	6	3	724	3	KIAA1958	9	115337082	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	14972109	115337082	25876349	27	6454											
PDCD11	22984	broad.mit.edu	37	chr10	105165806	105165806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggacattggtgttgatgGgaccagagcttttctgccac	13	8	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr10:105165806G>A	uc001kwy.1	+	5	716	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	210	S1 motif 2.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGTGTTGATGGGACCAGAGCT	0.512													3	176					0	0	1	0	0	A	105165806	G	A	105165806	3	1	385	1	0	0	0	0	1	0	0	0	11617	1232	43	2	647	2	PDCD11	10	105165806	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		105165806	30368941	28	6455											
NAV2	89797	broad.mit.edu	37	chr11	19955323	19955323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaagagagcctctgtgacGgagaggctggacctcaagga	15	10	2	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:19955323G>A	uc010rdm.2	+	7	1963	c.1602G>A	c.(1600-1602)acG>acA	p.T534T	NAV2_uc001mpp.3_Silent_p.T447T|NAV2_uc001mpr.4_Silent_p.T511T|NAV2_uc021qew.1_Silent_p.T511T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	534						nucleus	ATP binding|helicase activity	p.T534T(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCTGTGACGGAGAGGCTGG	0.517													3	102					0	0	1	0	0	A	19955323	G	A	19955323	2	1	385	1	0	0	0	0	0	0	0	1	10184	1103	39	1		1	NAV2	11	19955323	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		19955323	115051193	29	6456											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62494174	62494174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgggttcgtcttcctccCtcttgccgaggccctgctct	9	18	3	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:62494174C>T	uc001nuw.3	-	0	684	c.455G>A	c.(454-456)aGg>aAg	p.R152K	HNRNPUL2_uc001nuu.2_Non-coding_Transcript|TTC9C_uc001nux.3_5'Flank|TTC9C_uc001nuy.3_5'Flank	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	152	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTCTTCCTCCCTCTTGCCGAG	0.706													17	34					0	0	1	0	0	T	62494174	C	T	62494174	3	4	385	1	0	0	0	0	1	0	0	0	7275	681	24	2	1844	2	HNRNPUL2	11	62494174	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	42538851	62494174	72512342	30	6457											
KDM2A	22992	broad.mit.edu	37	chr11	67012703	67012703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgggttcctaccatccCcattacgaagcctcacacta	8	15	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67012703C>T	uc001ojw.3	+	13	2471	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.P230L|KDM2A_uc010rpn.2_Missense_Mutation_p.P97L|KDM2A_uc001ojz.1_5'UTR	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCTACCATCCCCATTACGAAG	0.527													109	203					0	0	1	0	0	T	67012703	C	T	67012703	3	4	385	1	0	0	0	0	1	0	0	0	8124	623	22	2	1657	2	KDM2A	11	67012703	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	4518529	67012703	67993813	31	6458											
SUV420H1	51111	broad.mit.edu	37	chr11	67925361	67925361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcctcatactgactatAgtcatccacctccattcgag	4	14	3	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67925361A>G	uc001onm.1	-	10	2708	c.2452T>C	c.(2452-2454)Tat>Cat	p.Y818H	SUV420H1_uc009yse.1_Missense_Mutation_p.Y404H|SUV420H1_uc001onn.1_Missense_Mutation_p.Y646H|SUV420H1_uc009ysf.2_Missense_Mutation_p.Y578H	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACTGACTATAGTCATCCACC	0.448													62	106					0	0	1	0	0	G	67925361	A	G	67925361	3	3	385	1	0	0	0	0	1	0	0	0	15411	420	15	3	209	3	SUV420H1	11	67925361	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	912658	67925361	67081155	32	6459											
POU2AF1	5450	broad.mit.edu	37	chr11	111228348	111228348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggctgcagggtggccGgggtgggctgggagagccag	23	9	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:111228348G>A	uc001plg.4	-	3	533	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	93					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CAGGGTGGCCGGGGTGGGCTG	0.627			T	BCL6	NHL								3	68					0	0	1	0	0	A	111228348	G	A	111228348	3	1	385	1	0	0	0	0	1	0	0	0	12270	1116	39	1	500	1	POU2AF1	11	111228348	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	43302987	111228348	23778168	33	6460											
LGR5	8549	broad.mit.edu	37	chr12	71978313	71978313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaagcaaacctacgtctgGacaagatcaaaacacccaag	7	11	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr12:71978313G>A	uc001swl.3	+	17	2571	c.2523G>A	c.(2521-2523)tgG>tgA	p.W841*	LGR5_uc001swm.3_Nonsense_Mutation_p.W817*|LGR5_uc021rar.1_Nonsense_Mutation_p.W769*|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	841						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTACGTCTGGACAAGATCAA	0.448													25	51					0	0	1	0	0	A	71978313	G	A	71978313	4	1	385	1	0	0	0	0	0	1	0	0	8757	1183	41	2	2593	2	LGR5	12	71978313	Nonsense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		71978313	61873582	34	6461											
SNAPC5	10302	broad.mit.edu	37	chr15	66782756	66782756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcacaagctctagaccTgaaactcttggattttcctt	7	11	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr15:66782756T>C	uc002apt.1	-	1	367	c.327A>G	c.(325-327)tcA>tcG	p.S109S	MAP2K1_uc010bhq.3_Intron|MAP2K1_uc010ujp.2_Intron|SNAPC5_uc002apu.1_3'UTR			O75971	SNPC5_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 5, 19kDa (SNAPC5), mRNA.	16					transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)	2						GCTCTAGACCTGAAACTCTTG	0.493													11	19					0	0	1	0	0	C	66782756	T	C	66782756	2	2	385	1	0	0	0	0	0	0	0	1	14838	1595	55	3		3	SNAPC5	15	66782756	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		66782756	35748636	35	6462											
ARHGDIG	398	broad.mit.edu	37	chr16	332688	332688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgtgactccggtggaGgaagcgccgaggggtgcgct	19	8	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:332688G>A	uc002cgm.1	+	5	627	c.552G>A	c.(550-552)gaG>gaA	p.E184E	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgn.1_5'UTR|PDIA2_uc002cgo.1_5'UTR|PDIA2_uc010bqt.1_5'UTR	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) gamma (ARHGDIG), mRNA.	184					Rho protein signal transduction|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTCCGGTGGAGGAAGCGCCGA	0.642													3	36					0	0	1	0	0	A	332688	G	A	332688	2	1	385	1	0	0	0	0	0	0	0	1	892	991	35	2		2	ARHGDIG	16	332688	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		332688	90022065	36	6463											
C16orf11	146325	broad.mit.edu	37	chr16	613508	613508	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctgctgctagactccCcagactgggcgtgccgccgt	12	16	0	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:613508C>G	uc002chk.3	+	1	493	c.214C>G	c.(214-216)Cca>Gca	p.P72A		NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	72										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GCTAGACTCCCCAGACTGGGC	0.662													15	35					0	0	1	0	0	G	613508	C	G	613508	3	3	385	1	0	0	0	0	1	0	0	0	1810	623	22	4	216	4	C16orf11	16	613508	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	280820	613508	89741245	37	6464											
LCMT1	51451	broad.mit.edu	37	chr16	25175977	25175977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgactccagagcagtccGcaaacctcctgaagtgggca	10	13	0	3			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:25175977G>A	uc002dnx.1	+	6	786	c.628G>A	c.(628-630)Gca>Aca	p.A210T	LCMT1_uc002dny.1_Missense_Mutation_p.A155T	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	210							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGAGCAGTCCGCAAACCTCCT	0.428													3	131					0	0	1	0	0	A	25175977	G	A	25175977	3	1	385	1	0	0	0	0	1	0	0	0	8678	1087	38	1	654	1	LCMT1	16	25175977	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	24562469	25175977	65178776	38	6465											
NFAT5	10725	broad.mit.edu	37	chr16	69726422	69726422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacgttatctaatcaacaGcagcagcagcagcagcaaca	7	12	2	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:69726422G>A	uc002exl.2	+	12	3030	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q	NFAT5_uc002exj.2_Silent_p.Q804Q|NFAT5_uc002exk.2_Silent_p.Q804Q|NFAT5_uc002exn.2_Silent_p.Q897Q|NFAT5_uc002exm.2_Silent_p.Q880Q|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Silent_p.Q804Q	NM_138713	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.	880					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTAATcaacagcagcagcagc	0.478													3	63					0	0	1	0	0	A	69726422	G	A	69726422	2	1	385	1	0	0	0	0	0	0	0	1	10360	962	34	2		2	NFAT5	16	69726422	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	44550445	69726422	20628331	39	6466											
ZNHIT3	9326	broad.mit.edu	37	chr17	34842567	34842567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcgctcaaatgtagcacCgtcgtctgcgtgatctgctt	11	12	3	1	rs139241535	byFrequency	TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34842567C>T	uc002hms.1	+	0	95	c.24C>T	c.(22-24)acC>acT	p.T8T	ZNHIT3_uc010cus.1_Silent_p.T8T|ZNHIT3_uc002hmt.1_Non-coding_Transcript|ZNHIT3_uc010cut.1_Non-coding_Transcript	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.	8					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	p.S7I(1)		lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		AATGTAGCACCGTCGTCTGCG	0.657													11	401					0	0	1	0	0	T	34842567	C	T	34842567	2	4	385	1	0	0	0	0	0	0	0	1	18205	639	23	1		1	ZNHIT3	17	34842567	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		34842567	46352643	40	6467											
MYO19	80179	broad.mit.edu	37	chr17	34870998	34870998	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttcccaaagcgactgctgTtgttattcctcagtgtacac	7	12	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34870998T>A	uc010wcy.2	-	8	1567	c.575A>T	c.(574-576)aAc>aTc	p.N192I	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.N192I|MYO19_uc010wcz.1_Intron|MYO19_uc010wda.1_Missense_Mutation_p.N58I|MYO19_uc002hmx.2_Missense_Mutation_p.N192I	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	192	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGACTGCTGTTGTTATTCCT	0.517													10	34					0	0	1	0	0	A	34870998	T	A	34870998	3	1	385	1	0	0	0	0	1	0	0	0	10067	1725	60	5	2473	5	MYO19	17	34870998	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	28431	34870998	46324212	41	6468											
GRB7	2886	broad.mit.edu	37	chr17	37901566	37901566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatccatcttgtttgggctCcccacccttggtgagtgtgc	11	13	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:37901566C>T	uc021twu.1	+	9	1286	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	GRB7_uc002hsr.3_Missense_Mutation_p.S361F|GRB7_uc002hss.3_Missense_Mutation_p.S361F|GRB7_uc010cwc.3_Missense_Mutation_p.S361F|GRB7_uc002hst.3_Missense_Mutation_p.S361F	NM_001242442	NP_001229371	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 4, mRNA.	361					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGTTTGGGCTCCCCACCCTTG	0.592													21	90					0	0	1	0	0	T	37901566	C	T	37901566	3	4	385	1	0	0	0	0	1	0	0	0	6759	855	30	2	1116	2	GRB7	17	37901566	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	3030568	37901566	43293644	42	6469											
AP3D1	8943	broad.mit.edu	37	chr19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccagctcgcagatgacaTtgacggcagccgactgaacc	12	13	0	4			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:2129435T>C	uc002lva.3	-	6	837	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_uc002luy.3_Intron|AP3D1_uc002luz.3_Missense_Mutation_p.N205S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	205					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGATGACATTGACGGCAGC	0.577													11	82					0	0	1	0	0	C	2129435	T	C	2129435	3	2	385	1	0	0	0	0	1	0	0	0	746	1493	52	3	3101	3	AP3D1	19	2129435	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		2129435	56999548	43	6470											
FBN3	84467	broad.mit.edu	37	chr19	8146248	8146248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggacatcacctttgcAggtcctgccatcctcctcca	7	15	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8146248A>G	uc002mjf.3	-	56	7347	c.7330T>C	c.(7330-7332)Tgc>Cgc	p.C2444R	FBN3_uc002mje.3_Missense_Mutation_p.C283R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2444	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCACCTTTGCAGGTCCTGCCA	0.587													3	54					0	0	1	0	0	G	8146248	A	G	8146248	3	3	385	1	0	0	0	0	1	0	0	0	5704	188	7	3	1127	3	FBN3	19	8146248	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	6016813	8146248	50982735	44	6471											
OR2Z1	284383	broad.mit.edu	37	chr19	8842269	8842269	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccttatctacagtctgagGaatccggaggtgtggatggc	13	10	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8842269G>A	uc010xkg.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAGTCTGAGGAATCCGGAGG	0.522													5	119					0	0	1	0	0	A	8842269	G	A	8842269	2	1	385	1	0	0	0	0	0	0	0	1	11036	1165	41	2		2	OR2Z1	19	8842269	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	696021	8842269	50286714	45	6472											
MUC16	94025	broad.mit.edu	37	chr19	9065420	9065420	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggttgatgtgtctaaTgtaaaggtactctctgatgt	13	4	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:9065420T>G	uc002mkp.3	-	2	22230	c.22026A>C	c.(22024-22026)acA>acC	p.T7342T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7344	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCTAATGTAAAGGTAC	0.458													33	57					0	0	1	0	0	G	9065420	T	G	9065420	2	3	385	1	0	0	0	0	0	0	0	1	9973	1451	51	5		5	MUC16	19	9065420	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	223151	9065420	50063563	46	6473											
MRPL4	51073	broad.mit.edu	37	chr19	10369175	10369175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcactaccgccgctggggGgactccgtactcctcgtgga	14	15	0	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:10369175G>A	uc002mnm.3	+	7	793	c.639G>A	c.(637-639)ggG>ggA	p.G213G	MRPL4_uc002mnn.3_Silent_p.G213G|MRPL4_uc002mno.3_Silent_p.G213G	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	213					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G213G(2)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GCCGCTGGGGGGACTCCGTAC	0.647													3	124					0	0	1	0	0	A	10369175	G	A	10369175	2	1	385	1	0	0	0	0	0	0	0	1	9803	1219	43	2		2	MRPL4	19	10369175	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	1303755	10369175	48759808	47	6474											
ATP4A	495	broad.mit.edu	37	chr19	36045884	36045884	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgaggggcaggggcacgctGacggtgatgtagatgaggta	19	7	0	4			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:36045884G>A	uc002oal.1	-	15	2450	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	807					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGGGCACGCTGACGGTGATGT	0.547													47	59					0	0	1	0	0	A	36045884	G	A	36045884	2	1	385	1	0	0	0	0	0	0	0	1	1145	1277	45	2		2	ATP4A	19	36045884	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	25676709	36045884	23083099	48	6475											
PSG8	440533	broad.mit.edu	37	chr19	43269731	43269731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggctgagaggagcccCatggtctctgctgtctgtgt	17	9	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:43269731C>T	uc002ouo.2	-	0	101	c.3G>A	c.(1-3)atG>atA	p.M1I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.M1I|PSG8_uc010ein.3_Missense_Mutation_p.M1I|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	1						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGAGGAGCCCCATGGTCTCTG	0.597													34	52					0	0	1	0	0	T	43269731	C	T	43269731	3	4	385	1	0	0	0	0	1	0	0	0	12661	594	21	2	1318	2	PSG8	19	43269731	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	7223847	43269731	15859252	49	6476											
SLC1A5	6510	broad.mit.edu	37	chr19	47281988	47281988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatgccccacaggaagcgGtaggggtttttgcgggtgaa	16	8	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:47281988G>A	uc002pfs.3	-	4	1622	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	SLC1A5_uc010xyh.2_Silent_p.Y132Y|SLC1A5_uc002pfq.3_Silent_p.Y158Y|SLC1A5_uc002pfr.3_Silent_p.Y106Y	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	334					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACAGGAAGCGGTAGGGGTTTT	0.597													3	63					0	0	1	0	0	A	47281988	G	A	47281988	2	1	385	1	0	0	0	0	0	0	0	1	14435	1256	44	2		2	SLC1A5	19	47281988	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	4012257	47281988	11846995	50	6477											
CPT1C	126129	broad.mit.edu	37	chr19	50215184	50215184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgctgtacatcgtgtcccGattcctccacctgcagtcgc	9	16	0	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:50215184G>A	uc010eng.3	+	16	2301	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	CPT1C_uc002ppl.4_3'UTR|CPT1C_uc002ppi.3_Missense_Mutation_p.R579Q|CPT1C_uc002ppk.3_Missense_Mutation_p.R651Q|CPT1C_uc010enh.3_Missense_Mutation_p.R662Q|CPT1C_uc002ppj.3_Missense_Mutation_p.R662Q|CPT1C_uc010ybc.1_3'UTR|CPT1C_uc010eni.1_Intron	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	662					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATCGTGTCCCGATTCCTCCAC	0.607													24	104					0	0	1	0	0	A	50215184	G	A	50215184	3	1	385	1	0	0	0	0	1	0	0	0	3833	1058	37	1	2043	1	CPT1C	19	50215184	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	2933196	50215184	8913799	51	6478											
ZNF160	90338	broad.mit.edu	37	chr19	53572532	53572532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggtttttctccagtgtGgattgtctgatggattgcta	12	5	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:53572532G>A	uc010eqk.3	-	6	1671	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	ZNF160_uc002qaq.4_Missense_Mutation_p.H419Y|ZNF160_uc002qar.4_Missense_Mutation_p.H419Y	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	419					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCTCCAGTGTGGATTGTCTGA	0.428													5	196					0	0	1	0	0	A	53572532	G	A	53572532	3	1	385	1	0	0	0	0	1	0	0	0	17736	1348	47	2	1205	2	ZNF160	19	53572532	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	3357348	53572532	5556451	52	6479											
SIGLEC1	6614	broad.mit.edu	37	chr20	3675022	3675022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgggagagctgccttcGggtccccccacaccttgtag	12	15	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:3675022G>A	uc002wja.3	-	11	3102	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P	SIGLEC1_uc002wiz.4_Silent_p.P1034P|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1034	Ig-like C2-type 10.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCTGCCTTCGGGTCCCCCCA	0.652													39	92					0	0	1	0	0	A	3675022	G	A	3675022	2	1	385	1	0	0	0	0	0	0	0	1	14305	1103	39	1		1	SIGLEC1	20	3675022	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		3675022	59350498	53	6480											
MYH7B	57644	broad.mit.edu	37	chr20	33582119	33582119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcgaggggcgctggctgCggccgaggccaagcgccagg	20	12	0	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:33582119C>T	uc002xbi.2	+	26	3058	c.2741C>T	c.(2740-2742)gCg>gTg	p.A914V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	872						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCGCTGGCTGCGGCCGAGGCC	0.672													3	66					0	0	1	0	0	T	33582119	C	T	33582119	3	4	385	1	0	0	0	0	1	0	0	0	10040	768	27	1	2839	1	MYH7B	20	33582119	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	29907097	33582119	29443401	54	6481											
DNTTIP1	116092	broad.mit.edu	37	chr20	44432018	44432018	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccgggaaggccccaagGtatgattatgtgagcatggc	14	9	0	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:44432018G>A	uc002xpk.3	+	8	671	c.603_splice	c.e8+1	p.K201_splice		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	201						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCCCCAAGGTATGATTATG	0.507													15	47					0	0	1	0	0	A	44432018	G	A	44432018	5	1	385	1	0	0	0	0	0	0	1	0	4681	1275	44	2	634	2	DNTTIP1	20	44432018	Splice_Site	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	10849899	44432018	18593502	55	6482											
GNAS	2778	broad.mit.edu	37	chr20	57428474	57428474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccgaagagatggagaccGaaccgcctcacaacgagccc	11	15	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:57428474G>A	uc002xzw.3	+	0	439	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GATGGAGACCGAACCGCCTCA	0.652			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			2	6					0	0	1	0	0	A	57428474	G	A	57428474	3	1	385	1	0	0	0	0	1	0	0	0	6510	1059	37	1	898	1	GNAS	20	57428474	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	12996456	57428474	5597046	56	6483											
COL20A1	57642	broad.mit.edu	37	chr20	61947922	61947922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtttgacctgatggtgGccttcagcctggtggaaaag	15	8	1	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:61947922G>A	uc011aau.2	+	20	2642	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	COL20A1_uc011aav.2_Missense_Mutation_p.A669T	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	848	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGATGGTGGCCTTCAGCCT	0.652													7	10					0	0	1	0	0	A	61947922	G	A	61947922	3	1	385	1	0	0	0	0	1	0	0	0	3679	1203	42	2	2620	2	COL20A1	20	61947922	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	4519448	61947922	1077598	57	6484											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007755	32007755	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgcccatcttgctatggaaGatactggtcctgtggcttct	10	12	2	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr21:32007755G>T	uc011adg.2	+	0	173	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	58						intermediate filament		p.R58T(2)|p.G57G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGCTATGGAAGATACTGGTCC	0.507													8	192					0	0	1	0	0	T	32007755	G	T	32007755	3	4	385	1	0	0	0	0	1	0	0	0	8537	942	33	4	175	4	KRTAP20-2	21	32007755	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		32007755	16122140	58	6485											
DEPDC5	9681	broad.mit.edu	37	chr22	32215193	32215193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccaacagaaggcgctggAtgcacacttttcctgtgggt	12	11	0	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:32215193A>G	uc011alu.2	+	21	2054	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	DEPDC5_uc011als.2_Missense_Mutation_p.M618V|DEPDC5_uc003als.3_Missense_Mutation_p.M618V|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.M618V|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.M58V|DEPDC5_uc011alt.2_Missense_Mutation_p.M590V	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	618					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGGCGCTGGATGCACACTTT	0.557													26	100					0	0	1	0	0	G	32215193	A	G	32215193	3	3	385	1	0	0	0	0	1	0	0	0	4442	333	12	3	1952	3	DEPDC5	22	32215193	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		32215193	19089373	59	6486											
CRELD2	79174	broad.mit.edu	37	chr22	50315381	50315381	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacggctacttcagctcgctCcggaacgagacccacagcat	10	15	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:50315381C>T	uc010hal.2	+	4	699	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CRELD2_uc003biz.3_Silent_p.L188L|CRELD2_uc010haj.3_Silent_p.L188L|CRELD2_uc003bja.2_Silent_p.L188L|CRELD2_uc010hak.2_Silent_p.L188L|CRELD2_uc010ham.2_Silent_p.L188L	NM_001135101	NP_001128573	Q6UXH1	CREL2_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA.	188						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCTCGCTCCGGAACGAGA	0.677													6	177					0	0	1	0	0	T	50315381	C	T	50315381	2	4	385	1	0	0	0	0	0	0	0	1	3867	842	30	2		2	CRELD2	22	50315381	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	18100188	50315381	989185	60	6487											
MAGEB10	139422	broad.mit.edu	37	chrX	27839566	27839566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgcttgtttgaaggAtgttttccagagttcacttg	10	8	2	2			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:27839566A>G	uc004dbw.3	+	2	388	c.143A>G	c.(142-144)gAt>gGt	p.D48G	MAGEB10_uc022bud.1_Missense_Mutation_p.D48G	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	48										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGTTTGAAGGATGTTTTCCAG	0.522													13	30					0	0	1	0	0	G	27839566	A	G	27839566	3	3	385	1	0	0	0	0	1	0	0	0	9173	333	12	3	145	3	MAGEB10	23	27839566	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		27839566	127430994	61	6488											
FOXR2	139628	broad.mit.edu	37	chrX	55650393	55650393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgtggatgtgggtggaCcccaatatcctgtgccccct	11	12	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:55650393C>T	uc004duo.3	+	0	561	c.249C>T	c.(247-249)gaC>gaT	p.D83D		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	83					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGTGGGTGGACCCCAATATCC	0.552													32	50					0	0	1	0	0	T	55650393	C	T	55650393	2	4	385	1	0	0	0	0	0	0	0	1	6032	506	18	2		2	FOXR2	23	55650393	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	27810827	55650393	99620167	62	6489											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424816	69424816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcatagttggggaaccccttCcaattcccaggattaagagg	10	10	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:69424816C>A	uc004dxx.1	+	6	971	c.874C>A	c.(874-876)Cca>Aca	p.P292T		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	292					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGAACCCCTTCCAATTCCCAG	0.463													7	21					0	0	1	0	0	A	69424816	C	A	69424816	3	1	385	1	0	0	0	0	1	0	0	0	4459	855	30	4	900	4	DGAT2L6	23	69424816	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	13774423	69424816	85845744	63	6490											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698774	111698774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccccagccaaacgagcccGccagcaagaaactcagttgt	8	16	1	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:111698774G>A	uc004epo.1	+	2	1259	c.818G>A	c.(817-819)cGc>cAc	p.R273H	ZCCHC16_uc022cct.1_Missense_Mutation_p.R273H	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	273							nucleic acid binding|zinc ion binding	p.A272A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAACGAGCCCGCCAGCAAGAA	0.552													4	161					0	0	1	0	0	A	111698774	G	A	111698774	3	1	385	1	0	0	0	0	1	0	0	0	17581	1087	38	1	820	1	ZCCHC16	23	111698774	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	42273958	111698774	43571786	64	6491											
SEPT6	23157	broad.mit.edu	37	chrX	118771054	118771054	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcttacagcggcgatAcagctcatagtgccgggtgt	12	12	1	0			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:118771054A>C	uc011mtw.1	-	7	1055	c.982T>G	c.(982-984)Tat>Gat	p.Y328D	SEPT6_uc010nqk.3_Intron|SEPT6_uc004ers.3_Missense_Mutation_p.Y298D|SEPT6_uc004ert.3_Missense_Mutation_p.Y298D|SEPT6_uc004eru.3_Missense_Mutation_p.Y298D|SEPT6_uc004erv.3_Missense_Mutation_p.Y298D|SEPT6_uc004erw.3_Missense_Mutation_p.Y240D|SEPT6_uc011mtv.1_Missense_Mutation_p.Y240D	NM_145800	NP_665799	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant III, mRNA.	298					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.R328R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CAGCGGCGATACAGCTCATAG	0.612			T	MLL	AML								50	137					0	0	1	0	0	C	118771054	A	C	118771054	3	2	385	1	0	0	0	0	1	0	0	0	14068	391	14	5	450	5	SEPT6	23	118771054	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	7072280	118771054	36499506	65	6492											
IGSF1	3547	broad.mit.edu	37	chrX	130416966	130416966	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcttaccagtcacccagaTtttcaggacatcactaagga	6	12	4	1			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:130416966T>A	uc004ewe.4	-	5	1223	c.940A>T	c.(940-942)Atc>Ttc	p.I314F	IGSF1_uc004ewd.3_Missense_Mutation_p.I314F|IGSF1_uc022cdv.1_Missense_Mutation_p.I305F|IGSF1_uc004ewf.2_Missense_Mutation_p.I294F	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	314					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCACCCAGATTTTCAGGACA	0.433													49	89					0	0	1	0	0	A	130416966	T	A	130416966	3	1	385	1	0	0	0	0	1	0	0	0	7596	1493	52	5	3145	5	IGSF1	23	130416966	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	11645912	130416966	24853594	66	6493											
VPS13D	55187	broad.mit.edu	37	chr1	12387912	12387912	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaactcaccttttcccGtgagtgttgtactggttttc	9	11	1	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:12387912G>A	uc001atv.3	+	36	8338	c.8197_splice	c.e36+1	p.R2733_splice	VPS13D_uc001atw.3_Splice_Site_p.R2733_splice|VPS13D_uc001atx.3_Splice_Site_p.R1921_splice|VPS13D_uc001aty.1_Splice_Site_p.R471_splice	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2733					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCTTTTCCCGTGAGTGTTGT	0.403													3	38					0	0	1	0	0	A	12387912	G	A	12387912	5	1	386	1	0	0	0	0	0	0	1	0	17189	1159	40	1	8336	1	VPS13D	1	12387912	Splice_Site	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		12387912	236862709	1	6494											
ADC	113451	broad.mit.edu	37	chr1	33583639	33583639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctttgacaacatgggcgCctacactgtgggcatgggtt	14	9	1	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:33583639C>T	uc009vug.3	+	7	1298	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	ADC_uc001bwr.3_Missense_Mutation_p.A389V|ADC_uc001bws.3_Missense_Mutation_p.A389V|ADC_uc009vue.3_Missense_Mutation_p.A389V|ADC_uc001bwt.1_Missense_Mutation_p.A294V|ADC_uc001bwu.3_Missense_Mutation_p.A294V|ADC_uc001bwv.3_Missense_Mutation_p.A294V|ADC_uc001bwx.1_Missense_Mutation_p.A366V	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	389					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	AACATGGGCGCCTACACTGTG	0.632													13	56					0	0	1	0	0	T	33583639	C	T	33583639	3	4	386	1	0	0	0	0	1	0	0	0	287	739	26	2	1196	2	ADC	1	33583639	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	21195727	33583639	215666982	2	6495											
ATPAF1	64756	broad.mit.edu	37	chr1	47110844	47110844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacctacctgaatatttaTaagtgcagtgaagtggagtt	10	7	0	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:47110844T>C	uc001cqh.3	-	6	778	c.673A>G	c.(673-675)Ata>Gta	p.I225V	ATPAF1_uc009vyk.3_Missense_Mutation_p.I74V|ATPAF1_uc010omg.2_Missense_Mutation_p.I137V|ATPAF1_uc001cqi.3_Intron	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	225					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TGAATATTTATAAGTGCAGTG	0.443													48	117					0	0	1	0	0	C	47110844	T	C	47110844	3	2	386	1	0	0	0	0	1	0	0	0	1200	1406	49	3	325	3	ATPAF1	1	47110844	Missense_Mutation	SNP	T	TCGA-IM-A3U3-01A-11D-A22D-08	13527205	47110844	202139777	3	6496											
HIPK1	204851	broad.mit.edu	37	chr1	114499825	114499825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgagtcagatcaagagtCccttcactacacatgttgcc	8	12	3	3			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:114499825C>T	uc001eem.3	+	6	1833	c.1672C>T	c.(1672-1674)Ccc>Tcc	p.P558S	HIPK1_uc001eel.3_Missense_Mutation_p.P558S|HIPK1_uc001een.3_Missense_Mutation_p.P558S|HIPK1_uc001eeo.3_Missense_Mutation_p.P184S|HIPK1_uc001eep.3_Missense_Mutation_p.P164S	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCAAGAGTCCCTTCACTAC	0.388													6	122					0	0	1	0	0	T	114499825	C	T	114499825	3	4	386	1	0	0	0	0	1	0	0	0	7116	855	30	2	1712	2	HIPK1	1	114499825	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	67388981	114499825	134750796	4	6497											
FAM161A	84140	broad.mit.edu	37	chr2	62081111	62081111	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgggcgacccgcgctccagtGatgggatttaccggggtctg	16	11	1	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:62081111G>C	uc002sbm.4	-	0	168	c.66C>G	c.(64-66)atC>atG	p.I22M	FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Missense_Mutation_p.I22M|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_5'UTR	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	22					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGCTCCAGTGATGGGATTTA	0.672													15	20					0	0	1	0	0	C	62081111	G	C	62081111	3	2	386	1	0	0	0	0	1	0	0	0	5472	1280	45	4	1940	4	FAM161A	2	62081111	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		62081111	181118262	5	6498											
HK2	3099	broad.mit.edu	37	chr2	75113626	75113626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattggcaggcacgggcaGcaatgcctgctacatggagg	16	9	0	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:75113626G>A	uc002snd.3	+	14	3971	c.2045G>A	c.(2044-2046)aGc>aAc	p.S682N		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	682	Catalytic.|Substrate 2 binding.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGCACGGGCAGCAATGCCTGC	0.592													3	92					0	0	1	0	0	A	75113626	G	A	75113626	3	1	386	1	0	0	0	0	1	0	0	0	7191	971	34	2	2103	2	HK2	2	75113626	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	13032515	75113626	168085747	6	6499											
ABCB11	8647	broad.mit.edu	37	chr2	169781177	169781177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacacttaccttttcacttTctgtgtctaaggcagaagtg	7	10	3	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:169781177T>C	uc002ueo.1	-	26	3881	c.3755A>G	c.(3754-3756)gAa>gGa	p.E1252G	ABCB11_uc010zda.1_Missense_Mutation_p.E670G|ABCB11_uc010zdb.1_Missense_Mutation_p.E728G	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1252	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTTTCACTTTCTGTGTCTAA	0.363													6	72					0	0	1	0	0	C	169781177	T	C	169781177	3	2	386	1	0	0	0	0	1	0	0	0	42	1783	62	3	218	3	ABCB11	2	169781177	Missense_Mutation	SNP	T	TCGA-IM-A3U3-01A-11D-A22D-08	94667551	169781177	73418196	7	6500											
TTN	7273	broad.mit.edu	37	chr2	179598614	179598614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tactttctttacaaaggttgGaggttctagttaaggaaaga	10	4	2	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:179598614G>T	uc021vsy.1	-	49	11995	c.11770C>A	c.(11770-11772)Cca>Aca	p.P3924T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P585T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4851							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAAGGTTGGAGGTTCTAGT	0.368													6	34					0	0	1	0	0	T	179598614	G	T	179598614	3	4	386	1	0	0	0	0	1	0	0	0	16732	1174	41	4	89267	4	TTN	2	179598614	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	9817437	179598614	63600759	8	6501											
CHRND	1144	broad.mit.edu	37	chr2	233398945	233398945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgtaggccggcccccaGcaagctctgagcaggcccag	13	16	2	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:233398945G>A	uc002vsw.3	+	10	1268	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T	CHRND_uc010zmg.2_Missense_Mutation_p.A407T|CHRND_uc010zmh.2_Missense_Mutation_p.A228T	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	422					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.P421Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CCGGCCCCCAGCAAGCTCTGA	0.592													3	59					0	0	1	0	0	A	233398945	G	A	233398945	3	1	386	1	0	0	0	0	1	0	0	0	3394	971	34	2	1306	2	CHRND	2	233398945	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	53800331	233398945	9800428	9	6502											
DUSP7	1849	broad.mit.edu	37	chr3	52084880	52084880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggttgtggttggtgggcGtggaaaagtagagctgctca	17	5	1	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:52084880G>A	uc003dct.3	-	2	1290	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M		NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	404					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	p.T353M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGGTGGGCGTGGAAAAGTA	0.622													3	53					0	0	1	0	0	A	52084880	G	A	52084880	3	1	386	1	0	0	0	0	1	0	0	0	4830	1145	40	1	52	1	DUSP7	3	52084880	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		52084880	145937550	10	6503											
CCDC66	285331	broad.mit.edu	37	chr3	56597934	56597934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagactgtcttcatatccagAaagagatttcacctgcaacc	6	11	3	3			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:56597934A>G	uc003dhz.3	+	3	412	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Missense_Mutation_p.K75E|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dhv.2_Non-coding_Transcript|CCDC66_uc003dhw.2_Missense_Mutation_p.K109E	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	109										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TCATATCCAGAAAGAGATTTC	0.358													4	22					0	0	1	0	0	G	56597934	A	G	56597934	3	3	386	1	0	0	0	0	1	0	0	0	2838	247	9	3	339	3	CCDC66	3	56597934	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08	4513054	56597934	141424496	11	6504											
CBLB	868	broad.mit.edu	37	chr3	105464772	105464772	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtcttaccttccgggtttGgtgctatatttctgtagtcg	10	8	2	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:105464772G>T	uc003dwc.3	-	5	1156	c.834C>A	c.(832-834)acC>acA	p.T278T	CBLB_uc011bhi.2_Silent_p.T300T|CBLB_uc003dwd.2_Silent_p.T278T|CBLB_uc003dwe.2_Silent_p.T278T|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	278	Cbl-PTB.|SH2-like.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTCCGGGTTTGGTGCTATATT	0.373			Mis S		AML								10	169					0	0	1	0	0	T	105464772	G	T	105464772	2	4	386	1	0	0	0	0	0	0	0	1	2701	1335	47	4		4	CBLB	3	105464772	Silent	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	48866838	105464772	92557658	12	6505											
DZIP3	9666	broad.mit.edu	37	chr3	108405390	108405390	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatcatgaattgggagagAattacagacaggctgaaaac	10	7	1	4			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:108405390A>G	uc003dxd.3	+	27	3530	c.3108A>G	c.(3106-3108)agA>agG	p.R1036R	DZIP3_uc003dxf.1_Silent_p.R1036R|DZIP3_uc011bhm.2_Silent_p.R487R	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	1036					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTGGGAGAGAATTACAGACA	0.498													20	129					0	0	1	0	0	G	108405390	A	G	108405390	2	3	386	1	0	0	0	0	0	0	0	1	4865	243	9	3		3	DZIP3	3	108405390	Silent	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08	2940618	108405390	89617040	13	6506											
KIAA2018	205717	broad.mit.edu	37	chr3	113377559	113377559	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggtttgcattgtatcTgatgaatcttgctcaactct	8	9	4	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:113377559T>C	uc003eam.3	-	6	3381	c.2970A>G	c.(2968-2970)tcA>tcG	p.S990S	KIAA2018_uc003eal.3_Silent_p.S934S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	990					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCATTGTATCTGATGAATCTT	0.393													3	105					0	0	1	0	0	C	113377559	T	C	113377559	2	2	386	1	0	0	0	0	0	0	0	1	8268	1567	55	3		3	KIAA2018	3	113377559	Silent	SNP	T	TCGA-IM-A3U3-01A-11D-A22D-08	4972169	113377559	84644871	14	6507											
SLC41A3	54946	broad.mit.edu	37	chr3	125786908	125786908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaggctcagtctccagtGgcttgggggtcacgctttgg	15	10	3	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:125786908G>A	uc003eij.3	-	1	381	c.155C>T	c.(154-156)cCa>cTa	p.P52L	SLC41A3_uc003eil.3_Missense_Mutation_p.P52L|SLC41A3_uc003eik.3_Missense_Mutation_p.P52L|SLC41A3_uc011bkh.2_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.P52L	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	52						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGTCTCCAGTGGCTTGGGGGT	0.632													13	126					0	0	1	0	0	A	125786908	G	A	125786908	3	1	386	1	0	0	0	0	1	0	0	0	14631	1348	47	2	1709	2	SLC41A3	3	125786908	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	12409349	125786908	72235522	15	6508											
GOLPH3	64083	broad.mit.edu	37	chr5	32126343	32126343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaacgccgccaccaccGcccacagaacctcattggtg	10	16	1	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:32126343G>A	uc003jhp.1	-	3	1157	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	291					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.W290L(1)|p.A291A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CGCCACCACCGCCCACAGAAC	0.498													10	179					0	0	1	0	0	A	32126343	G	A	32126343	3	1	386	1	0	0	0	0	1	0	0	0	6568	1087	38	1	28	1	GOLPH3	5	32126343	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		32126343	148788917	16	6509											
PCDHAC2	56134	broad.mit.edu	37	chr5	140249717	140249717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaaatcttggacaccaaCgataactctcctgaagtcgc	9	11	2	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:140249717C>T	uc003lia.2	+	0	1887	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.N343N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	359	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACACCAACGATAACTCTC	0.512													3	97					0	0	1	0	0	T	140249717	C	T	140249717	2	4	386	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140249717	Silent	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	108123374	140249717	40665543	17	6510											
CD74	972	broad.mit.edu	37	chr5	149782174	149782174	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccagaagacgggtcctCcagttccagtgactctgcaa	10	14	1	3	rs139226964		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:149782174C>T	uc003lse.3	-	4	643	c.456G>A	c.(454-456)tgG>tgA	p.W152*	CD74_uc003lsc.3_Missense_Mutation_p.E278K|CD74_uc003lsd.3_Missense_Mutation_p.E214K	NM_001025158	NP_001020329	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 3, mRNA.	0					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGGTCCTCCAGTTCCAGT	0.602			T	ROS1	NSCLC								4	183					0	0	1	0	0	T	149782174	C	T	149782174	4	4	386	1	0	0	0	0	0	1	0	0	3035	865	30	2	66	2	CD74	5	149782174	Nonsense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	9532457	149782174	31133086	18	6511											
CFB	629	broad.mit.edu	37	chr6	31911265	31911265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagcagctcattgcttcCgcgatggcaacgaccactcc	9	15	1	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr6:31911265C>T	uc011dor.2	+	8	1333	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	CFB_uc003nyc.2_Missense_Mutation_p.R297C|CFB_uc011doo.2_Missense_Mutation_p.R264C|CFB_uc011dop.2_Missense_Mutation_p.R296C|CFB_uc003nyf.3_Missense_Mutation_p.R510C|CFB_uc010jtk.3_Missense_Mutation_p.R378C|CFB_uc011doq.2_Missense_Mutation_p.R481C|CFB_uc003nyh.2_Missense_Mutation_p.R161C|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.4_5'Flank	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	529	VWFA.			KK -> EE (in Ref. 10; AAA36225).	complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCATTGCTTCCGCGATGGCAA	0.597													21	174					0	0	1	0	0	T	31911265	C	T	31911265	3	4	386	1	0	0	0	0	1	0	0	0	3278	652	23	1		1	CFB	6	31911265	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		31911265	139203802	19	6512											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73927266	73927266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgttcctgaatgcccGgaaggagctacagtcagact	12	9	1	3			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:73927266G>A	uc010lbq.3	+	2	623	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	GTF2IRD1_uc003uap.3_Missense_Mutation_p.R77Q|GTF2IRD1_uc003uaq.3_Missense_Mutation_p.R77Q|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R77Q	NM_001199207	NP_001186136	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 3, mRNA.	77						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A76V(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGAATGCCCGGAAGGAGCTA	0.637													3	98					0	0	1	0	0	A	73927266	G	A	73927266	3	1	386	1	0	0	0	0	1	0	0	0	6868	1116	39	1	236	1	GTF2IRD1	7	73927266	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		73927266	85211397	20	6513											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	56					0	0	1	0	0	T	140453136	A	T	140453136	3	4	386	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08	66525870	140453136	18685527	21	6514											
TMEM71	137835	broad.mit.edu	37	chr8	133740227	133740227	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagaagaacagtctaaatCatctgctgaaaaagcagagg	10	7	3	4			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr8:133740227C>T	uc003ytn.3	-	5	665	c.436G>A	c.(436-438)Gat>Aat	p.D146N	TMEM71_uc003ytm.2_5'UTR|TMEM71_uc003yto.3_Intron	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	165						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAGTCTAAATCATCTGCTGAA	0.478													9	60					0	0	1	0	0	T	133740227	C	T	133740227	3	4	386	1	0	0	0	0	1	0	0	0	16197	826	29	2	414	2	TMEM71	8	133740227	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		133740227	12623795	22	6515											
GOLGA1	2800	broad.mit.edu	37	chr9	127651460	127651460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcttcggcctgcaatgGgccccgcagcctcagcaggt	14	14	1	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr9:127651460G>A	uc004bpc.3	-	17	2065	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	575						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GCCTGCAATGGGCCCCGCAGC	0.647													5	87					0	0	1	0	0	A	127651460	G	A	127651460	3	1	386	1	0	0	0	0	1	0	0	0	6551	1232	43	2	604	2	GOLGA1	9	127651460	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		127651460	13561971	23	6516											
ANK3	288	broad.mit.edu	37	chr10	61835974	61835974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaactgaagatgtagttgaCgcgcctaatgtggatttgat	11	5	0	4			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr10:61835974C>T	uc001jky.3	-	36	5003	c.4665G>A	c.(4663-4665)gcG>gcA	p.A1555A	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1555	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.A1555T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGTAGTTGACGCGCCTAATG	0.418													6	212					0	0	1	0	0	T	61835974	C	T	61835974	2	4	386	1	0	0	0	0	0	0	0	1	622	523	19	1		1	ANK3	10	61835974	Silent	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		61835974	73698773	24	6517											
STT3A	3703	broad.mit.edu	37	chr11	125476246	125476246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacttaattcctctccaCgtcctcgtgctgatgctcac	5	15	3	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr11:125476246C>T	uc001qcd.2	+	7	776	c.666C>T	c.(664-666)caC>caT	p.H222H	STT3A_uc009zbm.2_Silent_p.H222H|STT3A_uc001qce.2_Silent_p.H222H|STT3A_uc010sbg.1_Silent_p.H130H|STT3A_uc009zbn.2_5'UTR	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	222					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCCTCTCCACGTCCTCGTGC	0.478													4	170					0	0	1	0	0	T	125476246	C	T	125476246	2	4	386	1	0	0	0	0	0	0	0	1	15332	535	19	1		1	STT3A	11	125476246	Silent	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		125476246	9530270	25	6518											
NAV3	89795	broad.mit.edu	37	chr12	78400935	78400935	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagttccaacagtaaagcaAaccatttcacctggcagcac	6	12	1	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr12:78400935A>C	uc001syp.3	+	7	1790	c.1617A>C	c.(1615-1617)caA>caC	p.Q539H	NAV3_uc001syo.3_Missense_Mutation_p.Q539H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	539						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTAAAGCAAACCATTTCAC	0.468										HNSCC(70;0.22)			6	48					0	0	1	0	0	C	78400935	A	C	78400935	3	2	386	1	0	0	0	0	1	0	0	0	10185	11	1	5	1647	5	NAV3	12	78400935	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08		78400935	55450960	26	6519											
CAB39L	81617	broad.mit.edu	37	chr13	49925022	49925022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcagcataatcccacaaCgtaaggcaatctgtggggct	9	12	2	0	rs149022536		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr13:49925022C>T	uc001vcw.3	-	4	920	c.422G>A	c.(421-423)cGt>cAt	p.R141H	CAB39L_uc001vcx.3_Missense_Mutation_p.R141H|CAB39L_uc010adf.3_Missense_Mutation_p.R138H	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	141					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	p.R141H(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AATCCCACAACGTAAGGCAAT	0.358													9	78					0	0	1	0	0	T	49925022	C	T	49925022	3	4	386	1	0	0	0	0	1	0	0	0	2526	536	19	1	611	1	CAB39L	13	49925022	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		49925022	65244856	27	6520											
ARFGEF2	10564	broad.mit.edu	37	chr20	47611096	47611096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagggagcctgaagggcCacacattggcaggagaagag	17	7	0	4			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr20:47611096C>T	uc002xtx.4	+	21	3234	c.3082C>T	c.(3082-3084)Cac>Tac	p.H1028Y	ARFGEF2_uc010zyf.2_Missense_Mutation_p.H321Y	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1028					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTGAAGGGCCACACATTGGC	0.572													5	37					0	0	1	0	0	T	47611096	C	T	47611096	3	4	386	1	0	0	0	0	1	0	0	0	853	594	21	2	3168	2	ARFGEF2	20	47611096	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		47611096	15414424	28	6521											
NAP1L3	4675	broad.mit.edu	37	chrX	92928233	92928233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagaatcactagtcgagCtagccatctcctcttcggca	7	16	3	1			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:92928233C>T	uc004efq.3	-	0	450	c.71G>A	c.(70-72)aGc>aAc	p.S24N	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	24	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ACTAGTCGAGCTAGCCATCTC	0.542													23	67					0	0	1	0	0	T	92928233	C	T	92928233	3	4	386	1	0	0	0	0	1	0	0	0	10158	797	28	2	1453	2	NAP1L3	23	92928233	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		92928233	62342327	29	6522											
TBC1D8B	54885	broad.mit.edu	37	chrX	106108793	106108793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaatctttttaaagttgcGtgttgtatcacaagatgtga	8	4	2	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:106108793G>A	uc004emo.3	+	14	2522	c.2357G>A	c.(2356-2358)cGt>cAt	p.R786H	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	786						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAAAGTTGCGTGTTGTATCA	0.303													6	65					0	0	1	0	0	A	106108793	G	A	106108793	3	1	386	1	0	0	0	0	1	0	0	0	15623	1145	40	1	2481	1	TBC1D8B	23	106108793	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	13180560	106108793	49161767	30	6523											
ABCD1	215	broad.mit.edu	37	chrX	152991293	152991293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatggacgggcggcttcGcaaccctgaccagtctctga	11	14	1	2			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:152991293G>A	uc004fif.2	+	0	971	c.572G>A	c.(571-573)cGc>cAc	p.R191H	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	191	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCGGCTTCGCAACCCTGAC	0.647													15	103					0	0	1	0	0	A	152991293	G	A	152991293	3	1	386	1	0	0	0	0	1	0	0	0	60	1087	38	1	574	1	ABCD1	23	152991293	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	46882500	152991293	2279267	31	6524											
RENBP	5973	broad.mit.edu	37	chrX	153207421	153207421	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgggttctgctgtctccCcaggcagccaggaagttcct	11	14	2	0			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:153207421C>G	uc004fjo.2	-	6	921	c.751G>C	c.(751-753)Ggg>Cgg	p.G251R	RENBP_uc011mzh.1_Intron	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	251					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGCTGTCTCCCCAGGCAGCCA	0.627													56	195					0	0	1	0	0	G	153207421	C	G	153207421	3	3	386	1	0	0	0	0	1	0	0	0	13225	623	22	4	552	4	RENBP	23	153207421	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	216128	153207421	2063139	32	6525											
GJA4	2701	broad.mit.edu	37	chr1	35260771	35260771	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcagaatggccaaaaaccCccaagtcgtcccagcagctc	7	17	1	1			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:35260771C>G	uc009vul.3	+	1	1209	c.1185C>G	c.(1183-1185)ccC>ccG	p.P395P	GJA4_uc001bya.3_Silent_p.P319P|GJA4_uc009vum.1_Silent_p.P319P|GJA4_uc021olb.1_Silent_p.P319P	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	319					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCAAAAACCCCCAAGTCGTC	0.587													13	51					0	0	1	0	0	G	35260771	C	G	35260771	2	3	387	1	0	0	0	0	0	0	0	1	6403	610	22	4		4	GJA4	1	35260771	Silent	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		35260771	213989850	1	6526											
NBPF10	100132406	broad.mit.edu	37	chr1	145328378	145328378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaatgtattgcaggaaTtaaaaaggaccaagaagagg	12	4	1	3			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:145328378T>C	uc021oul.1	+	32	4261	c.4226T>C	c.(4225-4227)aTt>aCt	p.I1409T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1409										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTGCAGGAATTAAAAAGGAC	0.463													3	51					0	0	1	0	0	C	145328378	T	C	145328378	3	2	387	1	0	0	0	0	1	0	0	0	10193	1493	52	3	4356	3	NBPF10	1	145328378	Missense_Mutation	SNP	T	TCGA-J8-A3NZ-01A-11D-A21A-08	110067607	145328378	103922243	2	6527											
SCN3A	6328	broad.mit.edu	37	chr2	165952089	165952089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcagagtgaagaatgaccCaaagatgataaagatgacaa	9	5	1	8			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr2:165952089C>A	uc002ucx.3	-	24	4855	c.4363G>T	c.(4363-4365)Ggg>Tgg	p.G1455W	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.G1406W|SCN3A_uc002ucz.3_Missense_Mutation_p.G1406W	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1455						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1454S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAGAATGACCCAAAGATGATA	0.284													3	56					0	0	1	0	0	A	165952089	C	A	165952089	3	1	387	1	0	0	0	0	1	0	0	0	13918	594	21	4	1655	4	SCN3A	2	165952089	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		165952089	77247284	3	6528											
C3orf15	89876	broad.mit.edu	37	chr3	119462867	119462867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggactggaaggaagggcaCtagcagacatgtttgacttc	13	9	0	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:119462867C>T	uc003ede.4	+	13	1803	c.1726C>T	c.(1726-1728)Cta>Tta	p.L576L	C3orf15_uc010hqz.3_Silent_p.L514L|C3orf15_uc011bjd.2_Silent_p.L450L|C3orf15_uc011bje.2_Silent_p.L556L	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	412						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AGGAAGGGCACTAGCAGACAT	0.488													54	60					0	0	1	0	0	T	119462867	C	T	119462867	2	4	387	1	0	0	0	0	0	0	0	1	2209	564	20	2		2	C3orf15	3	119462867	Silent	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		119462867	78559563	4	6529											
PODXL2	50512	broad.mit.edu	37	chr3	127379384	127379384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagaggaagaggaGgagagggagaaggaagaggt	22	0	0	6			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127379384G>A	uc003ejq.2	+	2	537	c.513G>A	c.(511-513)gaG>gaA	p.E171E		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	171	Glu-rich.				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						aggaagaggaggagagggaga	0.557													3	71					0	0	1	0	0	A	127379384	G	A	127379384	2	1	387	1	0	0	0	0	0	0	0	1	12181	991	35	2		2	PODXL2	3	127379384	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	7916517	127379384	70643046	5	6530											
SEC61A1	29927	broad.mit.edu	37	chr3	127779461	127779461	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actaacatctgtgaaaccatCgtatggaaggcattcagccc	8	11	2	1			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127779461C>A	uc003ekb.3	+	6	757	c.573C>A	c.(571-573)atC>atA	p.I191I	SEC61A1_uc003ekc.3_Silent_p.I138I|SEC61A1_uc003ekd.3_Silent_p.I71I	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	191					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GTGAAACCATCGTATGGAAGG	0.478													3	58					0	0	1	0	0	A	127779461	C	A	127779461	2	1	387	1	0	0	0	0	0	0	0	1	14000	874	31	4		4	SEC61A1	3	127779461	Silent	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	400077	127779461	70242969	6	6531											
SOX14	8403	broad.mit.edu	37	chr3	137484265	137484265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgcctccaccctgcaGccccccgtcgcctacatcct	7	21	1	0			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:137484265G>A	uc003erm.2	+	0	1132	c.639G>A	c.(637-639)caG>caA	p.Q213Q		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	213					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCACCCTGCAGCCCCCCGTCG	0.657													4	72					0	0	1	0	0	A	137484265	G	A	137484265	2	1	387	1	0	0	0	0	0	0	0	1	14945	962	34	2		2	SOX14	3	137484265	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	9704804	137484265	60538165	7	6532											
BDH1	622	broad.mit.edu	37	chr3	197238954	197238954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaggtctccatcttggCgatcttttcatcaaagtact	8	10	5	0	rs145598252		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:197238954C>T	uc003fxr.3	-	7	1246	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	BDH1_uc003fxs.3_Missense_Mutation_p.A282T|BDH1_uc003fxu.3_Missense_Mutation_p.A282T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	282					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TCCATCTTGGCGATCTTTTCA	0.582													71	107					0	0	1	0	0	T	197238954	C	T	197238954	3	4	387	1	0	0	0	0	1	0	0	0	1390	768	27	1	191	1	BDH1	3	197238954	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	59754689	197238954	783476	8	6533											
KIAA1244	57221	broad.mit.edu	37	chr6	138584107	138584107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacgccgtgggagtcagGgaacgagaggagccttgaca	15	10	1	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:138584107G>A	uc003qhu.3	+	11	1658	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	496					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAGTCAGGGAACGAGAGG	0.592													3	3					0	0	1	0	0	A	138584107	G	A	138584107	3	1	387	1	0	0	0	0	1	0	0	0	8217	1232	43	2	1533	2	KIAA1244	6	138584107	Missense_Mutation	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08		138584107	32530960	9	6534											
UTRN	7402	broad.mit.edu	37	chr6	145021242	145021242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcccatttggaggccagcGctgagaagtggaacaggttg	17	8	0	1			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:145021242G>T	uc003qkt.3	+	51	7764	c.7672G>T	c.(7672-7674)Gct>Tct	p.A2558S		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2558					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGGCCAGCGCTGAGAAGTG	0.373													3	54					0	0	1	0	0	T	145021242	G	T	145021242	3	4	387	1	0	0	0	0	1	0	0	0	17100	1087	38	4	7878	4	UTRN	6	145021242	Missense_Mutation	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	6437135	145021242	26093825	10	6535											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	44					0	0	1	0	0	T	140453136	A	T	140453136	3	4	387	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08		140453136	18685527	11	6536											
OR52N2	390077	broad.mit.edu	37	chr11	5841775	5841775	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcctggccctgctctccttCactgatgtcaccttgtgcac	7	16	3	1			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr11:5841775C>G	uc010qzp.2	+	0	210	c.210C>G	c.(208-210)ttC>ttG	p.F70L	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F70F(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTCTCCTTCACTGATGTCA	0.537													3	203					0	0	1	0	0	G	5841775	C	G	5841775	3	3	387	1	0	0	0	0	1	0	0	0	11128	825	29	4	212	4	OR52N2	11	5841775	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		5841775	129164741	12	6537											
OR56A5	390084	broad.mit.edu	37	chr11	5989487	5989487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggaccttggggatgaCggtgaggcagagtacgatgt	18	7	0	3			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr11:5989487C>T	uc010qzu.2	-	0	238	c.238G>A	c.(238-240)Gtc>Atc	p.V80I		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	80						integral to membrane|plasma membrane	olfactory receptor activity										TTGGGGATGACGGTGAGGCAG	0.532													40	72					0	0	1	0	0	T	5989487	C	T	5989487	3	4	387	1	0	0	0	0	1	0	0	0	11136	536	19	1	705	1	OR56A5	11	5989487	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	147712	5989487	129017029	13	6538											
TAS2R46	259292	broad.mit.edu	37	chr12	11214130	11214130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacaggtttgttttccAgactctcaaaactccaaact	6	10	1	3			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:11214130A>G	uc001qzp.1	-	0	764	c.764T>C	c.(763-765)cTg>cCg	p.L255P	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	255					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGTTTTCCAGACTCTCAAA	0.418													6	122					0	0	1	0	0	G	11214130	A	G	11214130	3	3	387	1	0	0	0	0	1	0	0	0	15579	188	7	3	169	3	TAS2R46	12	11214130	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08		11214130	122637765	14	6539											
DTX1	1840	broad.mit.edu	37	chr12	113533162	113533162	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaaccccgggaagaagttCaccgcaagaggattccctcg	10	15	1	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:113533162C>A	uc001tuk.1	+	7	1917	c.1581C>A	c.(1579-1581)ttC>ttA	p.F527L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	527					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAAGAAGTTCACCGCAAGAG	0.597													5	173					0	0	1	0	0	A	113533162	C	A	113533162	3	1	387	1	0	0	0	0	1	0	0	0	4793	825	29	4	1611	4	DTX1	12	113533162	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	102319032	113533162	20318733	15	6540											
ULK3	25989	broad.mit.edu	37	chr15	75134762	75134762	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accacttcacgagtgtccttCtgcgagacaggagatttggg	12	10	2	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr15:75134762C>G	uc010ulq.1	-	2	139	c.136_splice	c.e2-1	p.K46_splice	ULK3_uc010ulp.1_Splice_Site|ULK3_uc010ulr.1_Splice_Site|ULK3_uc010bkf.1_Splice_Site_p.K35_splice|ULK3_uc002ayv.2_Splice_Site_p.K35_splice|ULK3_uc010uls.1_Splice_Site|ULK3_uc010ult.1_Splice_Site|ULK3_uc010ulu.1_Splice_Site	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	Homo sapiens unc-51-like kinase 3 (C. elegans) (ULK3), mRNA.	35	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GAGTGTCCTTCTGCGAGACAG	0.557													65	168					0	0	1	0	0	G	75134762	C	G	75134762	5	3	387	1	0	0	0	0	0	0	1	0	16974	927	32	4	1376	4	ULK3	15	75134762	Splice_Site	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		75134762	27396630	16	6541											
LRRC36	55282	broad.mit.edu	37	chr16	67401213	67401213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggaagtcttggtaaaAggcctcagagaagcaagaac	12	7	2	2			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr16:67401213A>G	uc002esv.3	+	7	1067	c.1048A>G	c.(1048-1050)Agg>Ggg	p.R350G	LRRC36_uc002esw.3_Intron|LRRC36_uc010ceh.3_Intron|LRRC36_uc002esx.3_Missense_Mutation_p.R229G|LRRC36_uc010vjk.2_Missense_Mutation_p.R229G|LRRC36_uc010vjl.2_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	350										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTTGGTAAAAGGCCTCAGAG	0.403													3	122					0	0	1	0	0	G	67401213	A	G	67401213	3	3	387	1	0	0	0	0	1	0	0	0	8990	63	3	3	1106	3	LRRC36	16	67401213	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08		67401213	22953540	17	6542											
HAP1	9001	broad.mit.edu	37	chr17	39888235	39888237	+	In_Frame_Del	DEL	CTT	CTT	-													acactgcaggtcttcctctgCttcttcttcttcctgttcct					rs150945451	byFrequency	TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr17:39888235_39888237delCTT	uc002hxm.1	-	3	860_862	c.848_850delAAG	c.(847-852)gaagca>gca	p.E283del	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_In_Frame_Del_p.E283del|HAP1_uc002hxo.1_In_Frame_Del_p.E291del|HAP1_uc002hxp.1_In_Frame_Del_p.E283del	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	283	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			tcttcctctgcttcttcttcttc	0.507													2	4	---	---	---	---						-	39888237	CTT	-	39888235	7	5	387	1	0	1	0	1	0	0	0	0	6953	797	28	0	1041	0	HAP1	17	39888235	In_Frame_Del	DEL	CTT	TCGA-J8-A3NZ-01A-11D-A21A-08		39888235	41306975	18	6543											
RAVER1	125950	broad.mit.edu	37	chr19	10431412	10431412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggggctgagcaggcgGgacttgagctggaaggcttt	19	7	0	3			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:10431412G>A	uc002moa.3	-	8	1820	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S	RAVER1_uc002mnz.3_5'Flank	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	433						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGAGCAGGCGGGACTTGAGCT	0.697													3	19					0	0	1	0	0	A	10431412	G	A	10431412	2	1	387	1	0	0	0	0	0	0	0	1	13094	1219	43	2		2	RAVER1	19	10431412	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08		10431412	48697571	19	6544											
BCAM	4059	broad.mit.edu	37	chr19	45317503	45317503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagctgctctgccggggGgacggcagccccagcccgga	16	16	1	0			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:45317503G>A	uc002ozu.3	+	6	923	c.879G>A	c.(877-879)ggG>ggA	p.G293G	BCAM_uc002ozt.1_Silent_p.G293G	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	293	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCTGCCGGGGGGACGGCAGCC	0.672													83	82					0	0	1	0	0	A	45317503	G	A	45317503	2	1	387	1	0	0	0	0	0	0	0	1	1344	1219	43	2		2	BCAM	19	45317503	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	34886091	45317503	13811480	20	6545											
ABCB7	22	broad.mit.edu	37	chrX	74296488	74296488	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaccacaatattcatgGcctaaaaacataaaaacatc	5	9	1	0			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:74296488G>A	uc004ebz.3	-	5	482	c.457_splice	c.e5-1	p.A153_splice	ABCB7_uc010nlt.3_Splice_Site_p.A112_splice|ABCB7_uc004eca.3_Splice_Site_p.A152_splice|ABCB7_uc011mqn.2_Splice_Site_p.A126_splice|ABCB7_uc010nls.3_Splice_Site_p.A113_splice	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	152	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AATATTCATGGCCTAAAAACA	0.318													3	35					0	0	1	0	0	A	74296488	G	A	74296488	5	1	387	1	0	0	0	0	0	0	1	0	46	1217	42	2	1851	2	ABCB7	23	74296488	Splice_Site	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08		74296488	80974072	21	6546											
DCX	1641	broad.mit.edu	37	chrX	110654079	110654079	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgactaacagttgtaaatgAatccatagcctgacaaaatt	6	7	0	3			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:110654079A>C	uc011msv.2	-	0	296	c.124T>G	c.(124-126)Tca>Gca	p.S42A	DCX_uc004epd.3_Missense_Mutation_p.S42A|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	NM_178152	NP_835365	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 2, mRNA.	42					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTTGTAAATGAATCCATAGCC	0.423													7	174					0	0	1	0	0	C	110654079	A	C	110654079	3	2	387	1	0	0	0	0	1	0	0	0	4318	246	9	5	1244	5	DCX	23	110654079	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08	36357591	110654079	44616481	22	6547											
DNAJC11	55735	broad.mit.edu	37	chr1	6696245	6696245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacgccccggaactgaTagagcactttcaggttcttc	11	12	2	2			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:6696245T>C	uc001aof.2	-	14	1692	c.1586A>G	c.(1585-1587)tAt>tGt	p.Y529C	DNAJC11_uc001aog.2_Missense_Mutation_p.Y477C|DNAJC11_uc010nzu.1_Missense_Mutation_p.Y439C	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	529					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGAACTGATAGAGCACTTT	0.547													22	55					0	0	1	0	0	C	6696245	T	C	6696245	3	2	388	1	0	0	0	0	1	0	0	0	4630	1406	49	3	101	3	DNAJC11	1	6696245	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08		6696245	242554376	1	6548											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			62	78					0	0	1	0	0	C	115256529	T	C	115256529	3	2	388	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08	108560284	115256529	133994092	2	6549											
NBPF14	25832	broad.mit.edu	37	chr1	148012561	148012562	+	Frame_Shift_Del	DEL	AT	AT	-													aatgcataaaaggaacttccAtagggctggcaggagtcagg							TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:148012561_148012562delAT	uc001eqq.3	-	11	1429_1430	c.1397_1398delAT	c.(1396-1398)tatfs	p.Y466fs	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Frame_Shift_Del_p.Y377fs|NBPF14_uc021owc.1_Frame_Shift_Del_p.Y133fs|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Non-coding_Transcript|NBPF14_uc021owg.1_Frame_Shift_Del_p.Y621fs|NBPF14_uc021owh.1_Frame_Shift_Del_p.Y377fs|NBPF14_uc010pad.1_5'Flank|NBPF14_uc021owd.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	466	NBPF 5.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGGAACTTCCATAGGGCTGGCA	0.47													2	4	---	---	---	---						-	148012562	AT	-	148012561	7	5	388	1	0	1	0	1	0	0	0	0	10194	224	8	0	1411	0	NBPF14	1	148012561	Frame_Shift_Del	DEL	AT	TCGA-J8-A3O0-01A-11D-A21A-08	32756032	148012561	101238060	3	6550											
FN1	2335	broad.mit.edu	37	chr2	216285470	216285470	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtgcccctcttcatgaCgcttgtggaatgtgtcgttc	11	11	2	1	rs142165052		TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr2:216285470C>G	uc002vfa.3	-	10	1867	c.1601G>C	c.(1600-1602)cGt>cCt	p.R534P	FN1_uc002vfc.3_Missense_Mutation_p.R534P|FN1_uc002vfe.3_Missense_Mutation_p.R534P|FN1_uc002vff.3_Missense_Mutation_p.R534P|FN1_uc002vfg.3_Missense_Mutation_p.R534P|FN1_uc002vfh.3_Missense_Mutation_p.R534P|FN1_uc002vfi.3_Missense_Mutation_p.R534P|FN1_uc002vfj.3_Missense_Mutation_p.R534P|FN1_uc002vfb.3_Missense_Mutation_p.R534P|FN1_uc002vfl.3_Missense_Mutation_p.R534P	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	534	Collagen-binding.|Fibronectin type-I 8.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTTCATGACGCTTGTGGAA	0.478													23	46					0	0	1	0	0	G	216285470	C	G	216285470	3	3	388	1	0	0	0	0	1	0	0	0	5962	536	19	4	6009	4	FN1	2	216285470	Missense_Mutation	SNP	C	TCGA-J8-A3O0-01A-11D-A21A-08		216285470	26913903	4	6551											
FANCD2	2177	broad.mit.edu	37	chr3	10106101	10106101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtagtggactcctgtgTtgttccggaagggtaggtat	14	7	0	0			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr3:10106101T>C	uc003buw.3	+	21	2087	c.2009T>C	c.(2008-2010)gTt>gCt	p.V670A	FANCD2_uc003bux.1_Missense_Mutation_p.V670A|FANCD2_uc003buy.1_Missense_Mutation_p.V670A|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	670					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GACTCCTGTGTTGTTCCGGAA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				28	68					0	0	1	0	0	C	10106101	T	C	10106101	3	2	388	1	0	0	0	0	1	0	0	0	5665	1725	60	3	2091	3	FANCD2	3	10106101	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08		10106101	187916329	5	6552											
BMP3	651	broad.mit.edu	37	chr4	81952594	81952594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggactccgagctgcagccGcaagacaaggtctctgaaca	11	14	1	2			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr4:81952594G>A	uc003hmg.4	+	0	476	c.156G>A	c.(154-156)ccG>ccA	p.P52P		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	52					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGCTGCAGCCGCAAGACAAGG	0.672													3	44					0	0	1	0	0	A	81952594	G	A	81952594	2	1	388	1	0	0	0	0	0	0	0	1	1461	1074	38	1		1	BMP3	4	81952594	Silent	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08		81952594	109201682	6	6553											
SAAL1	113174	broad.mit.edu	37	chr11	18111042	18111042	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacaacctcccccaccTtcaccagcaagtcaactgca	4	19	2	0			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr11:18111042T>G	uc001mnq.3	-	6	655	c.605A>C	c.(604-606)aAg>aCg	p.K202T	SAAL1_uc001mnr.3_Missense_Mutation_p.K202T	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.	202					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						CTCCCCCACCTTCACCAGCAA	0.418													11	29					0	0	1	0	0	G	18111042	T	G	18111042	3	3	388	1	0	0	0	0	1	0	0	0	13801	1609	56	5	843	5	SAAL1	11	18111042	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08		18111042	116895474	7	6554											
LTBP3	4054	broad.mit.edu	37	chr11	65319868	65319868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacaggctcttctcctccGgtttgtctgctgcaggggcc	11	14	3	0			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr11:65319868G>A	uc001oej.3	-	6	1465	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L	LTBP3_uc010roi.2_Missense_Mutation_p.P282L|LTBP3_uc001oei.3_Missense_Mutation_p.P399L|LTBP3_uc010roj.2_Missense_Mutation_p.P100L|LTBP3_uc010rok.1_Missense_Mutation_p.P310L|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	399						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CTTCTCCTCCGGTTTGTCTGC	0.667											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	68					0	0	1	0	0	A	65319868	G	A	65319868	3	1	388	1	0	0	0	0	1	0	0	0	9075	1116	39	1	2803	1	LTBP3	11	65319868	Missense_Mutation	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08	47208826	65319868	69686648	8	6555											
HEXA	3073	broad.mit.edu	37	chr15	72640388	72640388	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccctccttccttcctcaCgtctggatgtagaaggactc	7	16	2	1	rs76173977	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr15:72640388C>T	uc010ukn.2	-	9	1313	c.1106_splice	c.e9+1	p.T369_splice	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Intron|HEXA_uc002aun.4_Splice_Site_p.T358_splice|HEXA_uc010bix.3_Splice_Site_p.T358_splice|HEXA_uc010biy.2_Splice_Site_p.T221_splice|HEXA_uc010uko.1_Splice_Site_p.T184_splice	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	358					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCCTTCCTCACGTCTGGATGT	0.577													8	22					0	0	1	0	0	T	72640388	C	T	72640388	5	4	388	1	0	0	0	0	0	0	1	0	7073	550	19	1	539	1	HEXA	15	72640388	Splice_Site	SNP	C	TCGA-J8-A3O0-01A-11D-A21A-08		72640388	29891004	9	6556											
OTOA	146183	broad.mit.edu	37	chr16	21726416	21726416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaggtcctgagaagtgcCgtctcccagtatgtatccga	11	12	1	1			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr16:21726416C>T	uc002djh.3	+	12	1432	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.A398A|OTOA_uc002dji.3_Silent_p.A153A|OTOA_uc010vbk.2_Silent_p.A125A	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	491					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGAGAAGTGCCGTCTCCCAGT	0.577													8	355					0	0	1	0	0	T	21726416	C	T	21726416	2	4	388	1	0	0	0	0	0	0	0	1	11302	639	23	1		1	OTOA	16	21726416	Silent	SNP	C	TCGA-J8-A3O0-01A-11D-A21A-08		21726416	68628337	10	6557											
SETD6	79918	broad.mit.edu	37	chr16	58549787	58549787	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggagctgagtcccaaggtGagcgagcgagccggcgggcg	19	11	0	2			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr16:58549787G>A	uc002ens.3	+	1	179	c.120G>A	c.(118-120)gtG>gtA	p.V40V	SETD6_uc010cdl.2_Silent_p.V40V|SETD6_uc021tjh.1_Intron|SETD6_uc002enr.3_Intron|SETD6_uc010cdm.3_Intron|SETD6_uc010vij.1_Intron	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA.	40	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GTCCCAAGGTGAGCGAGCGAg	0.756													4	13					0	0	1	0	0	A	58549787	G	A	58549787	2	1	388	1	0	0	0	0	0	0	0	1	14135	1277	45	2		2	SETD6	16	58549787	Silent	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08	36823371	58549787	31804966	11	6558											
SERTAD3	29946	broad.mit.edu	37	chr19	40947564	40947564	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaggccagagtcccccaAgtaccgggagctcagagctt	11	14	1	2			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr19:40947564A>C	uc002onu.4	-	1	702	c.424T>G	c.(424-426)Ttg>Gtg	p.L142V	SERTAD3_uc002onv.4_Missense_Mutation_p.L142V|SERTAD3_uc021uut.1_Missense_Mutation_p.L142V	NM_013368	NP_976219	Q9UJW9	SRTD3_HUMAN	Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA.	142					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTCCCCCAAGTACCGGGAG	0.572													27	44					0	0	1	0	0	C	40947564	A	C	40947564	3	2	388	1	0	0	0	0	1	0	0	0	14122	69	3	5	170	5	SERTAD3	19	40947564	Missense_Mutation	SNP	A	TCGA-J8-A3O0-01A-11D-A21A-08		40947564	18181419	12	6559											
NKRF	55922	broad.mit.edu	37	chrX	118724002	118724002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatactcaactgtcattcgGttaaactgagctgtgtcgtt	8	9	2	1			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chrX:118724002G>A	uc022cdk.1	-	3	1653	c.1431C>T	c.(1429-1431)aaC>aaT	p.N477N	NKRF_uc004erq.3_Silent_p.N462N|NKRF_uc004err.3_Silent_p.N462N	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	462					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CTGTCATTCGGTTAAACTGAG	0.433													3	32					0	0	1	0	0	A	118724002	G	A	118724002	2	1	388	1	0	0	0	0	0	0	0	1	10447	1252	44	2		2	NKRF	23	118724002	Silent	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08		118724002	36546558	13	6560											
ATP2B4	493	broad.mit.edu	37	chr1	203680123	203680123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggactccggactatctgcAtagcttaccgggacttcgat	10	11	1	0			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr1:203680123A>G	uc001gzw.3	+	11	2815	c.1918A>G	c.(1918-1920)Ata>Gta	p.I640V	ATP2B4_uc001gzv.3_Missense_Mutation_p.I640V|ATP2B4_uc009xaq.3_Missense_Mutation_p.I640V	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	640					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACTATCTGCATAGCTTACCG	0.532													42	82					0	0	1	0	0	G	203680123	A	G	203680123	3	3	389	1	0	0	0	0	1	0	0	0	1142	217	8	3	1960	3	ATP2B4	1	203680123	Missense_Mutation	SNP	A	TCGA-J8-A3O1-01A-11D-A21A-08		203680123	45570498	1	6561											
CKAP2L	150468	broad.mit.edu	37	chr2	113513632	113513632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttgtgacatcagcttgaGttttgggagctgtcttgttc	13	7	2	2			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr2:113513632G>A	uc002tie.2	-	3	1395	c.1316C>T	c.(1315-1317)aCt>aTt	p.T439I	CKAP2L_uc002tif.2_Missense_Mutation_p.T28I|CKAP2L_uc010yxp.1_Missense_Mutation_p.T274I|CKAP2L_uc010yxq.1_Missense_Mutation_p.T274I	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	439						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATCAGCTTGAGTTTTGGGAGC	0.408													62	70					0	0	1	0	0	A	113513632	G	A	113513632	3	1	389	1	0	0	0	0	1	0	0	0	3443	1029	36	2	945	2	CKAP2L	2	113513632	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		113513632	129685741	2	6562											
CCDC108	255101	broad.mit.edu	37	chr2	219886587	219886587	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttgccgtcattcaggagGacaaggaacctggactgctt	12	10	2	0			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr2:219886587G>A	uc002vjl.1	-	17	3129	c.3045C>T	c.(3043-3045)gtC>gtT	p.V1015V	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1015						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCAGGAGGACAAGGAACC	0.607													66	137					0	0	1	0	0	A	219886587	G	A	219886587	2	1	389	1	0	0	0	0	0	0	0	1	2743	1161	41	2		2	CCDC108	2	219886587	Silent	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	106372955	219886587	23312786	3	6563											
LTF	4057	broad.mit.edu	37	chr3	46484938	46484938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacagactcaccggaaaGccccagtgtagccgtagtat	10	12	2	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr3:46484938G>A	uc003cpq.3	-	12	1890	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	LTF_uc003fzr.3_Missense_Mutation_p.A506V|LTF_uc010hjh.3_Missense_Mutation_p.A548V|LTF_uc003cpr.3_Missense_Mutation_p.A537V	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	550	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TCACCGGAAAGCCCCAGTGTA	0.532													80	108					0	0	1	0	0	A	46484938	G	A	46484938	3	1	389	1	0	0	0	0	1	0	0	0	9079	971	34	2	503	2	LTF	3	46484938	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		46484938	151537492	4	6564											
ALCAM	214	broad.mit.edu	37	chr3	105252457	105252457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattttgcagttgggtgactGcatttcagaagacagttatc	10	6	1	3			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr3:105252457G>A	uc003dvx.3	+	4	1166	c.470G>A	c.(469-471)tGc>tAc	p.C157Y	ALCAM_uc003dvw.2_Missense_Mutation_p.C157Y|ALCAM_uc003dvy.3_Missense_Mutation_p.C157Y|ALCAM_uc011bhh.1_Missense_Mutation_p.C106Y|ALCAM_uc010hpp.3_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	157	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGGGTGACTGCATTTCAGAA	0.443													45	49					0	0	1	0	0	A	105252457	G	A	105252457	3	1	389	1	0	0	0	0	1	0	0	0	487	1319	46	2	488	2	ALCAM	3	105252457	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	58767519	105252457	92769973	5	6565											
TRIO	7204	broad.mit.edu	37	chr5	14297305	14297305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagtggaaggcgtttgCggcagccctggatgagcgga	19	8	0	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr5:14297305C>T	uc003jff.3	+	6	1307	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.A385V|TRIO_uc003jfh.1_Missense_Mutation_p.A83V	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	434					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGGCGTTTGCGGCAGCCCTG	0.602													3	46					0	0	1	0	0	T	14297305	C	T	14297305	3	4	389	1	0	0	0	0	1	0	0	0	16549	768	27	1	1327	1	TRIO	5	14297305	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		14297305	166617955	6	6566											
GNL1	2794	broad.mit.edu	37	chr6	30513930	30513931	+	Frame_Shift_Del	DEL	AT	AT	-													gccgaggttggggtctcctcAtccccttctccctcctcatc							TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr6:30513930_30513931delAT	uc003nqh.3	-	11	3133_3134	c.1742_1743delAT	c.(1741-1743)gatfs	p.D581fs	GNL1_uc011dmi.2_Frame_Shift_Del_p.D378fs|GNL1_uc011dmj.2_Frame_Shift_Del_p.D579fs|GNL1_uc011dmk.2_Frame_Shift_Del_p.D236fs	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	581	Asp/Glu-rich (highly acidic).				T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGGTctcctcatccccttctcc	0.639													2	4	---	---	---	---						-	30513931	AT	-	30513930	7	5	389	1	0	1	0	1	0	0	0	0	6535	214	8	0	84	0	GNL1	6	30513930	Frame_Shift_Del	DEL	AT	TCGA-J8-A3O1-01A-11D-A21A-08		30513930	140601137	7	6567											
ZNF713	349075	broad.mit.edu	37	chr7	56006963	56006963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcaaaccttatgcagcagaGaattccttccattaaaatac	4	11	1	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr7:56006963G>A	uc003tra.2	+	6	1403	c.596G>A	c.(595-597)aGa>aAa	p.R199K	ZNF713_uc003trc.1_Missense_Mutation_p.R186K	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGCAGCAGAGAATTCCTTCC	0.368													13	28					0	0	1	0	0	A	56006963	G	A	56006963	3	1	389	1	0	0	0	0	1	0	0	0	18114	942	33	2	571	2	ZNF713	7	56006963	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		56006963	103131700	8	6568											
THAP5	168451	broad.mit.edu	37	chr7	108204990	108204990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtttagaattttcaGcaggtacaaaaatggcaata	10	5	1	2			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr7:108204990G>A	uc003vfm.3	-	2	987	c.833C>T	c.(832-834)gCt>gTt	p.A278V	THAP5_uc003vfl.3_Missense_Mutation_p.A236V	NM_001130475	NP_872335	Q7Z6K1	THAP5_HUMAN	Homo sapiens THAP domain containing 5 (THAP5), transcript variant 1, mRNA.	278					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AGAATTTTCAGCAGGTACAAA	0.328													3	33					0	0	1	0	0	A	108204990	G	A	108204990	3	1	389	1	0	0	0	0	1	0	0	0	15844	971	34	2	358	2	THAP5	7	108204990	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	52198027	108204990	50933673	9	6569											
LDHA	3939	broad.mit.edu	37	chr11	18427040	18427040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctacacatcctgggctaTtggactctctgtagcagatt	10	10	1	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr11:18427040T>C	uc010rdd.2	+	6	1124	c.842T>C	c.(841-843)aTt>aCt	p.I281T	LDHA_uc001mok.3_Missense_Mutation_p.I252T|LDHA_uc009yho.2_Missense_Mutation_p.I79T|LDHA_uc001mol.3_Intron|LDHA_uc010rdc.1_Missense_Mutation_p.I194T|LDHA_uc021qep.1_Intron	NM_001165414	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 3, mRNA.	252					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	p.Y281C(1)		central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	TCCTGGGCTATTGGACTCTCT	0.443													4	72					0	0	1	0	0	C	18427040	T	C	18427040	3	2	389	1	0	0	0	0	1	0	0	0	8698	1493	52	3	868	3	LDHA	11	18427040	Missense_Mutation	SNP	T	TCGA-J8-A3O1-01A-11D-A21A-08		18427040	116579476	10	6570											
TSFM	10102	broad.mit.edu	37	chr12	58176601	58176601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagatgtcgctgctgcggtCgctgcgcgtgtttctggtcg	16	10	1	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr12:58176601C>T	uc001sqh.3	+	0	74	c.17C>T	c.(16-18)tCg>tTg	p.S6L	TSFM_uc021qzq.1_Missense_Mutation_p.S6L|TSFM_uc001sqi.3_Missense_Mutation_p.S6L|TSFM_uc010ssf.2_Missense_Mutation_p.S6L|TSFM_uc010sse.2_5'UTR	NM_001172696	NP_001166167	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	6					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTGCTGCGGTCGCTGCGCGTG	0.652											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	1	0	0	T	58176601	C	T	58176601	3	4	389	1	0	0	0	0	1	0	0	0	16612	893	31	1	19	1	TSFM	12	58176601	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		58176601	75675294	11	6571											
PRKD1	5587	broad.mit.edu	37	chr14	30105538	30105538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtctgggtctggatctTgcatctcgccactgtcgttc	12	12	4	0			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:30105538T>C	uc001wqh.3	-	6	1329	c.1148A>G	c.(1147-1149)cAa>cGa	p.Q383R	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	383					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GTCTGGATCTTGCATCTCGCC	0.537													102	120					0	0	1	0	0	C	30105538	T	C	30105538	3	2	389	1	0	0	0	0	1	0	0	0	12518	1812	63	3	1638	3	PRKD1	14	30105538	Missense_Mutation	SNP	T	TCGA-J8-A3O1-01A-11D-A21A-08		30105538	77244002	12	6572											
CATSPERB	79820	broad.mit.edu	37	chr14	92088170	92088170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcactttcaggcatggtaGcaatggctaatgcattctta	10	8	2	0			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:92088170G>A	uc001xzs.1	-	18	2182	c.2042C>T	c.(2041-2043)gCt>gTt	p.A681V	CATSPERB_uc010aub.1_Missense_Mutation_p.A203V	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	681					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGGCATGGTAGCAATGGCTAA	0.393													3	47					0	0	1	0	0	A	92088170	G	A	92088170	3	1	389	1	0	0	0	0	1	0	0	0	2691	971	34	2	1344	2	CATSPERB	14	92088170	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	61982632	92088170	15261370	13	6573											
MYH2	4620	broad.mit.edu	37	chr17	10432293	10432293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcttcttccagcctctcgCtgatctcctccagctcccgg	8	19	3	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr17:10432293C>A	uc010coi.3	-	26	3586	c.3458G>T	c.(3457-3459)aGc>aTc	p.S1153I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1153I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1153					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGCCTCTCGCTGATCTCCTC	0.617													90	96					0	0	1	0	0	A	10432293	C	A	10432293	3	1	389	1	0	0	0	0	1	0	0	0	10035	797	28	4	2423	4	MYH2	17	10432293	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		10432293	70762917	14	6574											
PTPRS	5802	broad.mit.edu	37	chr19	5206842	5206842	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgcctggtaacagaaCtggtactcatcctgggggag	14	10	1	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr19:5206842C>G	uc002mbv.3	-	37	6024	c.5790G>C	c.(5788-5790)caG>caC	p.Q1930H	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Missense_Mutation_p.Q1472H|PTPRS_uc002mbw.3_Missense_Mutation_p.Q1892H|PTPRS_uc002mbx.3_Missense_Mutation_p.Q1487H|PTPRS_uc002mby.3_Missense_Mutation_p.Q1483H	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1930	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGTAACAGAACTGGTACTCAT	0.612													7	99					0	0	1	0	0	G	5206842	C	G	5206842	3	3	389	1	0	0	0	0	1	0	0	0	12811	564	20	4	60	4	PTPRS	19	5206842	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		5206842	53922141	15	6575											
PLP1	5354	broad.mit.edu	37	chrX	103041545	103041545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggcaagggcctgagcGcaacggtaacagggggccag	17	11	1	1			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chrX:103041545G>A	uc010nov.3	+	3	623	c.343G>A	c.(343-345)Gca>Aca	p.A115T	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.A115T|PLP1_uc004elj.3_Missense_Mutation_p.A115T|PLP1_uc011msf.2_Missense_Mutation_p.A60T|PLP1_uc010now.1_Missense_Mutation_p.A119T|PLP1_uc010nox.3_Missense_Mutation_p.A69T	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	115					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GGGCCTGAGCGCAACGGTAAC	0.582													4	171					0	0	1	0	0	A	103041545	G	A	103041545	3	1	389	1	0	0	0	0	1	0	0	0	12104	1087	38	1	353	1	PLP1	23	103041545	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		103041545	52229015	16	6576											
CASZ1	54897	broad.mit.edu	37	chr1	10714637	10714637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgctcgtgtacaccttGttacagcccacctgcacagg	10	14	0	0			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr1:10714637G>T	uc001aro.3	-	9	1997	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K	CASZ1_uc001arp.1_Missense_Mutation_p.N559K|CASZ1_uc009vmx.2_Missense_Mutation_p.N583K	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGTACACCTTGTTACAGCCCA	0.607													12	190					0	0	1	0	0	T	10714637	G	T	10714637	3	4	390	1	0	0	0	0	1	0	0	0	2685	1368	48	4	3654	4	CASZ1	1	10714637	Missense_Mutation	SNP	G	TCGA-J8-A3YE-01A-12D-A23M-08		10714637	238535984	1	6577											
SPTA1	6708	broad.mit.edu	37	chr1	158646045	158646045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggtgcatctgaaggatggGaaagtgtcagcttctctgct	14	7	3	1			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr1:158646045G>A	uc001fst.1	-	7	1197	c.998C>T	c.(997-999)tCc>tTc	p.S333F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	333					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L332R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAAGGATGGGAAAGTGTCAG	0.478													108	161					0	0	1	0	0	A	158646045	G	A	158646045	3	1	390	1	0	0	0	0	1	0	0	0	15115	1174	41	2	6441	2	SPTA1	1	158646045	Missense_Mutation	SNP	G	TCGA-J8-A3YE-01A-12D-A23M-08	147931408	158646045	90604576	2	6578											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	51					0	0	1	0	0	T	140453136	A	T	140453136	3	4	390	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3YE-01A-12D-A23M-08		140453136	18685527	3	6579											
EFR3A	23167	broad.mit.edu	37	chr8	132999878	132999878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactttctgaccaacaagaTtgcagagtcgctaggtggaa	11	8	1	3			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr8:132999878T>C	uc003yte.3	+	17	2198	c.1994T>C	c.(1993-1995)aTt>aCt	p.I665T		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	665						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ACCAACAAGATTGCAGAGTCG	0.368													5	5					0	0	1	0	0	C	132999878	T	C	132999878	3	2	390	1	0	0	0	0	1	0	0	0	4958	1493	52	3	2064	3	EFR3A	8	132999878	Missense_Mutation	SNP	T	TCGA-J8-A3YE-01A-12D-A23M-08		132999878	13364144	4	6580											
KIAA1432	57589	broad.mit.edu	37	chr9	5720735	5720735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttattacaccagtgtcaagTagatttactgcagaggtatg	9	6	1	2			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr9:5720735T>C	uc003zjl.4	+	5	896	c.705T>C	c.(703-705)agT>agC	p.S235S	KIAA1432_uc003zjh.3_Silent_p.S156S|KIAA1432_uc003zji.3_Silent_p.S156S|KIAA1432_uc003zjj.1_5'UTR	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	235						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CAGTGTCAAGTAGATTTACTG	0.328													73	98					0	0	1	0	0	C	5720735	T	C	5720735	2	2	390	1	0	0	0	0	0	0	0	1	8233	1635	57	3		3	KIAA1432	9	5720735	Silent	SNP	T	TCGA-J8-A3YE-01A-12D-A23M-08		5720735	135492696	5	6581											
ATM	472	broad.mit.edu	37	chr11	108196147	108196147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctatcatggctctacgcaCagtcattttggagatcctga	9	11	3	2			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr11:108196147C>T	uc001pkb.1	+	45	7068	c.6683C>T	c.(6682-6684)aCa>aTa	p.T2228I	ATM_uc009yxr.1_Missense_Mutation_p.T2228I|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.T880I|ATM_uc001pkg.1_Missense_Mutation_p.T585I	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2228	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCTCTACGCACAGTCATTTTG	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			53	81					0	0	1	0	0	T	108196147	C	T	108196147	3	4	390	1	0	0	0	0	1	0	0	0	1109	478	17	2	6861	2	ATM	11	108196147	Missense_Mutation	SNP	C	TCGA-J8-A3YE-01A-12D-A23M-08		108196147	26810369	6	6582											
ADSSL1	122622	broad.mit.edu	37	chr14	105211154	105211154	+	Frame_Shift_Del	DEL	C	C	-													cttggctttccacaggctggCcctgacgaagctggacatcc							TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr14:105211154delC	uc001ype.3	+	10	1210	c.1208delC	c.(1207-1209)gccfs	p.A403fs	ADSSL1_uc001ypd.3_Frame_Shift_Del_p.A360fs|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_199165	NP_954634	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 1, mRNA.	360					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CACAGGCTGGCCCTGACGAAG	0.532													27	46	---	---	---	---						-	105211154	C	-	105211154	7	5	390	1	0	1	0	1	0	0	0	0	348	739	26	0	1446	0	ADSSL1	14	105211154	Frame_Shift_Del	DEL	C	TCGA-J8-A3YE-01A-12D-A23M-08		105211154	2138386	7	6583											
LYST	1130	broad.mit.edu	37	chr1	235952076	235952076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatcccagtgaaattataTgaatacatccttcttctatg	6	8	2	2			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr1:235952076T>C	uc001hxj.2	-	12	4788	c.4613A>G	c.(4612-4614)cAt>cGt	p.H1538R	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1538					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAAATTATATGAATACATCC	0.413													3	25					0	0	1	0	0	C	235952076	T	C	235952076	3	2	391	1	0	0	0	0	1	0	0	0	9128	1464	51	3	6956	3	LYST	1	235952076	Missense_Mutation	SNP	T	TCGA-J8-A4HW-01A-11D-A257-08		235952076	13298545	1	6584											
STAT4	6775	broad.mit.edu	37	chr2	191926496	191926496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagggttttaagtaccaaCggcctctgagggtgggttgg	15	6	1	1			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:191926496C>T	uc002usm.2	-	9	1308	c.993G>A	c.(991-993)ccG>ccA	p.P331P	STAT4_uc002usn.2_Silent_p.P331P|STAT4_uc010zgk.1_Silent_p.P176P|STAT4_uc002uso.2_Silent_p.P331P	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	331					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TAAGTACCAACGGCCTCTGAG	0.393													13	154					0	0	1	0	0	T	191926496	C	T	191926496	2	4	391	1	0	0	0	0	0	0	0	1	15266	523	19	1		1	STAT4	2	191926496	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		191926496	51272877	2	6585											
ANKMY1	51281	broad.mit.edu	37	chr2	241468502	241468502	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaacaaaggggtctcaTtgattatgaaccatggttct	9	8	2	3			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:241468502T>A	uc010fzd.1	-	4	1030	c.905A>T	c.(904-906)aAt>aTt	p.N302I	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.N213I|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	213							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGGTCTCATTGATTATGAA	0.512													29	47					0	0	1	0	0	A	241468502	T	A	241468502	3	1	391	1	0	0	0	0	1	0	0	0	634	1493	52	5	2243	5	ANKMY1	2	241468502	Missense_Mutation	SNP	T	TCGA-J8-A4HW-01A-11D-A257-08	49542006	241468502	1730871	3	6586											
ODZ2	57451	broad.mit.edu	37	chr5	167645509	167645509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggagatgatgcctacgCgactgatgccatcttgaatt	10	9	2	4			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr5:167645509C>T	uc010jjd.3	+	22	4586	c.4586C>T	c.(4585-4587)gCg>gTg	p.A1529V	ODZ2_uc003lzr.4_Missense_Mutation_p.A1299V|ODZ2_uc003lzt.4_Missense_Mutation_p.A902V|ODZ2_uc010jje.3_Missense_Mutation_p.A793V	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GATGCCTACGCGACTGATGCC	0.502													55	101					0	0	1	0	0	T	167645509	C	T	167645509	3	4	391	1	0	0	0	0	1	0	0	0	10835	768	27	1	4676	1	ODZ2	5	167645509	Missense_Mutation	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		167645509	13269751	4	6587											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056142	26056142	+	Missense_Mutation	SNP	T	T	C													ccttggccttctttgggctcTtagccactttcttggttaca							TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr6:26056142T>C	uc003nfw.3	-	0	558	c.515A>G	c.(514-516)aAg>aGg	p.K172R		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	172					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTTTGGGCTCTTAGCCACTTT	0.562													5	83					0	0	1	0	0	C	26056142	T	C	26056142	3	2	391	1	0	0	0	0	1	0	0	0	7124	1609	56	3	130	3	HIST1H1C	6	26056142	Missense_Mutation	SNP	T	TCGA-J8-A4HW-01A-11D-A257-08		26056142	145058925	5	6588	6	2									
HIST1H1C	3006	broad.mit.edu	37	chr6	26056144	26056144	+	Silent	SNP	A	A	G													ttggccttctttgggctcttAgccactttcttggttacagt							TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr6:26056144A>G	uc003nfw.3	-	0	556	c.513T>C	c.(511-513)gcT>gcC	p.A171A		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	171					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTGGGCTCTTAGCCACTTTCT	0.567													5	87					0	0	1	0	0	G	26056144	A	G	26056144	2	3	391	1	0	0	0	0	0	0	0	1	7124	407	15	3		3	HIST1H1C	6	26056144	Silent	SNP	A	TCGA-J8-A4HW-01A-11D-A257-08	2	26056144	145058923	6	6589	6	2									
ABCA2	20	broad.mit.edu	37	chr9	139904529	139904529	+	Frame_Shift_Del	DEL	G	G	-													cgaacagcgcgtcacactgcGggcagtagccgaggctctgc							TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr9:139904529delG	uc004ckm.1	-	41	6538	c.6488delC	c.(6487-6489)ccgfs	p.P2163fs	ABCA2_uc022bpy.1_Frame_Shift_Del_p.P2064fs|ABCA2_uc022bpz.1_Frame_Shift_Del_p.P2134fs|ABCA2_uc011mem.1_Frame_Shift_Del_p.P2133fs|ABCA2_uc004ckl.1_Frame_Shift_Del_p.P2064fs|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	2133	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCACACTGCGGGCAGTAGCC	0.706													2	4	---	---	---	---						-	139904529	G	-	139904529	7	5	391	1	0	1	0	1	0	0	0	0	32	1116	39	0	941	0	ABCA2	9	139904529	Frame_Shift_Del	DEL	G	TCGA-J8-A4HW-01A-11D-A257-08		139904529	1308902	7	6590											
NUDT5	11164	broad.mit.edu	37	chr10	12228270	12228270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccattctgagaagattcCgttggttcttggctctccat	9	10	3	2			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr10:12228270C>T	uc001ilj.3	-	1	437	c.21G>A	c.(19-21)acG>acA	p.T7T		NM_014142	NP_054861	Q9UKK9	NUDT5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 5 (NUDT5), mRNA.	7					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GAGAAGATTCCGTTGGTTCTT	0.398													8	45					0	0	1	0	0	T	12228270	C	T	12228270	2	4	391	1	0	0	0	0	0	0	0	1	10742	639	23	1		1	NUDT5	10	12228270	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		12228270	123306477	8	6591											
OR5L1	219437	broad.mit.edu	37	chr11	55579307	55579307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtgatggcctatgaccGctttgtggccatctgtaacc	12	12	1	2	rs112907233	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr11:55579307G>A	uc001nhw.1	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTATGACCGCTTTGTGGCC	0.522													40	88					0	0	1	0	0	A	55579307	G	A	55579307	3	1	391	1	0	0	0	0	1	0	0	0	11170	1087	38	1	367	1	OR5L1	11	55579307	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08		55579307	79427209	9	6592											
OAS2	4939	broad.mit.edu	37	chr12	113425106	113425106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgctggccgccttcaaCgctctgagtaagcattgctg	13	11	2	1			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:113425106C>T	uc001tuj.3	+	1	581	c.441C>T	c.(439-441)aaC>aaT	p.N147N	OAS2_uc001tuh.3_Silent_p.N147N|OAS2_uc001tui.1_Silent_p.N147N	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	147	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGCCTTCAACGCTCTGAGTA	0.493													21	19					0	0	1	0	0	T	113425106	C	T	113425106	2	4	391	1	0	0	0	0	0	0	0	1	10800	535	19	1		1	OAS2	12	113425106	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		113425106	20426789	10	6593											
DNAH10	196385	broad.mit.edu	37	chr12	124332605	124332605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagccttgggcttgctctGtgttgtcaccaactgtggcg	13	10	2	0			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:124332605G>T	uc001uft.4	+	31	5583	c.5558G>T	c.(5557-5559)tGt>tTt	p.C1853F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1853	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCTTGCTCTGTGTTGTCACC	0.587													33	51					0	0	1	0	0	T	124332605	G	T	124332605	3	4	391	1	0	0	0	0	1	0	0	0	4598	1377	48	4	5684	4	DNAH10	12	124332605	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08	10907499	124332605	9519290	11	6594											
CYP19A1	1588	broad.mit.edu	37	chr15	51520089	51520089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgctgccgaatcgagagCtgtaatgattgtgcttcatt	11	7	1	2			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr15:51520089C>A	uc001zyz.4	-	4	589	c.338G>T	c.(337-339)aGc>aTc	p.S113I	CYP19A1_uc001zza.4_Missense_Mutation_p.S113I|CYP19A1_uc001zzb.2_Missense_Mutation_p.S113I|CYP19A1_uc001zzd.3_Missense_Mutation_p.S113I|CYP19A1_uc010bey.1_Missense_Mutation_p.S113I	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	113					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GAATCGAGAGCTGTAATGATT	0.443													14	27					0	0	1	0	0	A	51520089	C	A	51520089	3	1	391	1	0	0	0	0	1	0	0	0	4148	797	28	4	1201	4	CYP19A1	15	51520089	Missense_Mutation	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		51520089	51011303	12	6595											
DNAH17	8632	broad.mit.edu	37	chr17	76565292	76565292	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaatttatcctggaaaAggcaagagaagaagggaatt	13	3	0	2			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr17:76565292A>T	uc010dhp.2	-	8	1365	c.1240T>A	c.(1240-1242)Ttt>Att	p.F414I	DNAH17_uc002jvv.2_Missense_Mutation_p.F116I	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCCTGGAAAAGGCAAGAGAA	0.478													4	11					0	0	1	0	0	T	76565292	A	T	76565292	3	4	391	1	0	0	0	0	1	0	0	0	4601	72	3	5	12440	5	DNAH17	17	76565292	Missense_Mutation	SNP	A	TCGA-J8-A4HW-01A-11D-A257-08		76565292	4629918	13	6596											
C21orf2	755	broad.mit.edu	37	chr21	45753014	45753014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgggttctcggccagccacAgcacccgcagacgcggcagc	13	17	1	1			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr21:45753014A>G	uc002zeq.2	-	3	483	c.275T>C	c.(274-276)cTg>cCg	p.L92P	C21orf2_uc002zeo.1_Missense_Mutation_p.L51P|C21orf2_uc002zep.2_Missense_Mutation_p.L92P|C21orf2_uc002zer.2_Missense_Mutation_p.L92P	NM_004928	NP_004919	O43822	CU002_HUMAN	Homo sapiens chromosome 21 open reading frame 2 (C21orf2), mRNA.	92										endometrium(2)	2				Colorectal(79;0.0806)		GGCCAGCCACAGCACCCGCAG	0.687													3	11					0	0	1	0	0	G	45753014	A	G	45753014	3	3	391	1	0	0	0	0	1	0	0	0	2123	188	7	3	511	3	C21orf2	21	45753014	Missense_Mutation	SNP	A	TCGA-J8-A4HW-01A-11D-A257-08		45753014	2376881	14	6597											
ADARB1	104	broad.mit.edu	37	chr21	46591540	46591540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagacagaaacagtctccGccagtcaagaaaccctcaaa	6	13	4	3			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr21:46591540G>A	uc011afo.1	+	1	117	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_5'UTR|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_5'UTR|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_5'UTR|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc002zgy.2_5'UTR	NM_001160230	NP_001153702	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 7, mRNA.	84					RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AACAGTCTCCGCCAGTCAAGA	0.358													6	22					0	0	1	0	0	A	46591540	G	A	46591540	3	1	391	1	0	0	0	0	1	0	0	0	282	1102	38	1		1	ADARB1	21	46591540	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08	838526	46591540	1538355	15	6598											
MED15	51586	broad.mit.edu	37	chr22	20891439	20891439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctggtgtggcacacaGtaaatccagcaaggatatgg	13	7	0	0			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr22:20891439G>T	uc002zsp.3	+	1	184	c.104G>T	c.(103-105)aGt>aTt	p.S35I	MED15_uc002zsn.1_5'UTR|MED15_uc002zso.2_Missense_Mutation_p.S35I|MED15_uc002zsq.3_Missense_Mutation_p.S35I|MED15_uc010gso.3_Missense_Mutation_p.S35I|MED15_uc002zsr.3_Missense_Mutation_p.S9I|MED15_uc011ahs.2_Missense_Mutation_p.S9I|MED15_uc011aht.1_Missense_Mutation_p.S9I	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	35	Interaction with SREBF1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGGCACACAGTAAATCCAGC	0.552													14	27					0	0	1	0	0	T	20891439	G	T	20891439	3	4	391	1	0	0	0	0	1	0	0	0	9433	1029	36	4	110	4	MED15	22	20891439	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08		20891439	30413127	16	6599											
ZFP36L2	678	broad.mit.edu	37	chr2	43452123	43452123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcagcggcgactcgaGgccgcccgggggctgatggt	19	12	0	1			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:43452123G>A	uc002rsv.4	-	1	1111	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	274					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCGACTCGAGGCCGCCCGGG	0.731													26	17					0	0	1	0	0	A	43452123	G	A	43452123	3	1	392	1	0	0	0	0	1	0	0	0	17644	1000	35	2	668	2	ZFP36L2	2	43452123	Missense_Mutation	SNP	G	TCGA-KS-A41J-01A-11D-A23M-08		43452123	199747250	1	6600											
ATP6V1B1	525	broad.mit.edu	37	chr2	71187160	71187160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgaacagcattgcccgCggccagaagatccccatctt	9	14	2	3			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:71187160C>T	uc002shj.3	+	5	624	c.537C>T	c.(535-537)cgC>cgT	p.R179R	ATP6V1B1_uc002shi.1_Silent_p.R179R|ATP6V1B1_uc010fdx.3_Silent_p.R137R	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	179					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.R179R(2)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCATTGCCCGCGGCCAGAAGA	0.627													27	55					0	0	1	0	0	T	71187160	C	T	71187160	2	4	392	1	0	0	0	0	0	0	0	1	1178	755	27	1		1	ATP6V1B1	2	71187160	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08	27735037	71187160	172012213	2	6601											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	42					0	0	1	0	0	T	140453136	A	T	140453136	3	4	392	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A41J-01A-11D-A23M-08		140453136	18685527	3	6602											
OR5T2	219464	broad.mit.edu	37	chr11	56000210	56000210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgcagccaagagaaagCattctgtggttccaaaacta	8	10	1	1			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr11:56000210C>T	uc010rjc.2	-	0	452	c.452G>A	c.(451-453)tGc>tAc	p.C151Y		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAGAGAAAGCATTCTGTGGT	0.418													59	85					0	0	1	0	0	T	56000210	C	T	56000210	3	4	392	1	0	0	0	0	1	0	0	0	11182	710	25	2	626	2	OR5T2	11	56000210	Missense_Mutation	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08		56000210	79006306	4	6603											
MSLN	10232	broad.mit.edu	37	chr16	818804	818804	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggagcaggcacgggtggtCcccgttccaccccaagagaa	13	14	0	1			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr16:818804C>T	uc002cjy.1	+	5	1127	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V	MSLN_uc002cju.1_3'UTR|MSLN_uc002cjt.1_3'UTR|MSLN_uc010brd.1_3'UTR|MSLN_uc002cjw.2_3'UTR|MIR662_uc021tac.1_5'Flank			Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 3, mRNA.	268					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CACGGGTGGTCCCCGTTCCAC	0.672													3	13					0	0	1	0	0	T	818804	C	T	818804	2	4	392	1	0	0	0	0	0	0	0	1	9881	870	30	2		2	MSLN	16	818804	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08		818804	89535949	5	6604											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45244819	45244819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgtgtgcagggaagccCgtgaactttgacgactacgg	15	8	0	2			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:45244819C>T	uc003bfd.3	+	14	1663	c.1386C>T	c.(1384-1386)ccC>ccT	p.P462P	PRR5-ARHGAP8_uc011aqi.2_Silent_p.P374P|PRR5-ARHGAP8_uc011aqj.2_Silent_p.P288P|PRR5-ARHGAP8_uc003bfi.3_Silent_p.P252P|PRR5-ARHGAP8_uc010gzv.3_Silent_p.P252P|PRR5-ARHGAP8_uc003bfj.3_Silent_p.P283P|PRR5-ARHGAP8_uc003bfk.3_Silent_p.P252P|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CAGGGAAGCCCGTGAACTTTG	0.617													66	97					0	0	1	0	0	T	45244819	C	T	45244819	2	4	392	1	0	0	0	0	0	0	0	1	12601	639	23	1		1	PRR5-ARHGAP8	22	45244819	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08		45244819	6059747	6	6605											
HDAC10	83933	broad.mit.edu	37	chr22	50686833	50686833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgacaggggtggggcCgggtcacccagcagcgtctg	18	13	2	1			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:50686833C>T	uc003bkg.3	-	10	1348	c.975G>A	c.(973-975)ccG>ccA	p.P325P	HDAC10_uc010hav.3_Silent_p.P305P|HDAC10_uc003bkh.3_Intron|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_5'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	325					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGTGGGGCCGGGTCACCCA	0.657													8	52					0	0	1	0	0	T	50686833	C	T	50686833	2	4	392	1	0	0	0	0	0	0	0	1	7005	639	23	1		1	HDAC10	22	50686833	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08	5442014	50686833	617733	7	6606											
SPTA1	6708	broad.mit.edu	37	chr1	158583518	158583518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcttgttcctacctccctgGatccacagcatccaggaact	7	15	1	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr1:158583518G>T	uc001fst.1	-	49	7181	c.6982C>A	c.(6982-6984)Cca>Aca	p.P2328T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2328	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TACCTCCCTGGATCCACAGCA	0.493													14	34					0	0	1	0	0	T	158583518	G	T	158583518	3	4	393	1	0	0	0	0	1	0	0	0	15115	1174	41	4	289	4	SPTA1	1	158583518	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		158583518	90667103	1	6607											
FAM124B	79843	broad.mit.edu	37	chr2	225266211	225266211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggtagcactgccatggcGaatgctggagagagtccagg	17	8	0	1			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr2:225266211G>A	uc002vnx.3	-	0	501	c.275C>T	c.(274-276)tCg>tTg	p.S92L	FAM124B_uc002vnw.3_Missense_Mutation_p.S92L	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	92							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGCCATGGCGAATGCTGGAG	0.582													13	36					0	0	1	0	0	A	225266211	G	A	225266211	3	1	393	1	0	0	0	0	1	0	0	0	5426	1059	37	1	1191	1	FAM124B	2	225266211	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		225266211	17933162	2	6608											
BDH1	622	broad.mit.edu	37	chr3	197239158	197239158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccgagaaagcctctacccCgaacttggtgatgcagtacg	11	12	1	2			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr3:197239158C>A	uc003fxr.3	-	7	1042	c.640G>T	c.(640-642)Ggg>Tgg	p.G214W	BDH1_uc003fxs.3_Missense_Mutation_p.G214W|BDH1_uc003fxu.3_Missense_Mutation_p.G214W	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	214					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	p.F213L(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GCCTCTACCCCGAACTTGGTG	0.632													20	36					0	0	1	0	0	A	197239158	C	A	197239158	3	1	393	1	0	0	0	0	1	0	0	0	1390	652	23	4	395	4	BDH1	3	197239158	Missense_Mutation	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08		197239158	783272	3	6609											
PCDHGC5	56097	broad.mit.edu	37	chr5	140725487	140725487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcgaggtgcgcacggcGcgagccctgctggacagaga	18	12	0	1			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr5:140725487G>A	uc003ljm.2	+	0	1887	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.A629A	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	631	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A629A(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.701													33	67					0	0	1	0	0	A	140725487	G	A	140725487	2	1	393	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHGC5	5	140725487	Silent	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		140725487	40189773	4	6610											
RREB1	6239	broad.mit.edu	37	chr6	7231362	7231362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacagcccctgcagggCcctgttcagctggcggtccc	12	18	1	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr6:7231362C>T	uc003mxb.3	+	9	3522	c.3030C>T	c.(3028-3030)ggC>ggT	p.G1010G	RREB1_uc021yky.1_Silent_p.G1010G|RREB1_uc003mxc.3_Silent_p.G1010G|RREB1_uc010jnx.3_Silent_p.G1010G|RREB1_uc021ykz.1_Silent_p.G1010G|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1010	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCTGCAGGGCCCTGTTCAGC	0.667													5	40					0	0	1	0	0	T	7231362	C	T	7231362	2	4	393	1	0	0	0	0	0	0	0	1	13679	726	26	2		2	RREB1	6	7231362	Silent	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08		7231362	163883705	5	6611											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				21	40					0	0	1	0	0	T	140453136	A	T	140453136	3	4	393	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4I5-01A-11D-A257-08		140453136	18685527	6	6612											
DLC1	10395	broad.mit.edu	37	chr8	13251080	13251080	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgtagtcttgggtttggtTccagaattggctactggagt	13	7	1	1			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr8:13251080T>G	uc003wwm.2	-	3	1740	c.1296A>C	c.(1294-1296)ggA>ggC	p.G432G	DLC1_uc003wwn.3_Silent_p.G432G|DLC1_uc011kxy.2_Silent_p.G432G	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	432					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGGGTTTGGTTCCAGAATTGG	0.413													47	49					0	0	1	0	0	G	13251080	T	G	13251080	2	3	393	1	0	0	0	0	0	0	0	1	4550	1770	62	5		5	DLC1	8	13251080	Silent	SNP	T	TCGA-KS-A4I5-01A-11D-A257-08		13251080	133112942	7	6613											
COL22A1	169044	broad.mit.edu	37	chr8	139668161	139668161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagccaagagatttatgtcCcctggagacagtagtgaaga	11	7	0	4			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr8:139668161C>T	uc003yvd.3	-	44	3759	c.3312G>A	c.(3310-3312)ggG>ggA	p.G1104G	COL22A1_uc011ljo.2_Silent_p.G384G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1104	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GATTTATGTCCCCTGGAGACA	0.388										HNSCC(7;0.00092)			7	131					0	0	1	0	0	T	139668161	C	T	139668161	2	4	393	1	0	0	0	0	0	0	0	1	3681	610	22	2		2	COL22A1	8	139668161	Silent	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08	126417081	139668161	6695861	8	6614											
MUC6	4588	broad.mit.edu	37	chr11	1030583	1030583	+	Frame_Shift_Del	DEL	G	G	-													ctggactcacagcacaggccGgggctccgccagcggcggac							TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr11:1030583delG	uc001lsw.2	-	6	933	c.882delC	c.(880-882)cccfs	p.P294fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	294					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCACAGGCCGGGGCTCCGCC	0.706													2	4	---	---	---	---						-	1030583	G	-	1030583	7	5	393	1	0	1	0	1	0	0	0	0	9980	1103	39	0	6545	0	MUC6	11	1030583	Frame_Shift_Del	DEL	G	TCGA-KS-A4I5-01A-11D-A257-08		1030583	133975933	9	6615											
FAT3	120114	broad.mit.edu	37	chr11	92568204	92568204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttcagccaagacgtctacaGtgcggttatcagtgaagacg	12	9	3	3			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr11:92568204G>C	uc001pdj.4	+	13	10057	c.10040G>C	c.(10039-10041)aGt>aCt	p.S3347T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3347	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACGTCTACAGTGCGGTTATC	0.517										TCGA Ovarian(4;0.039)			7	10					0	0	1	0	0	C	92568204	G	C	92568204	3	2	393	1	0	0	0	0	1	0	0	0	5691	1029	36	4	10094	4	FAT3	11	92568204	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08	91537621	92568204	42438312	10	6616											
HTR3B	9177	broad.mit.edu	37	chr11	113815463	113815463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggaacccagggcccaacGtgctgtggtaacaggtgtgt	15	9	0	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr11:113815463G>A	uc001pok.3	+	7	1214	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H	HTR3B_uc001pol.3_Missense_Mutation_p.R348H	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	359					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AGGGCCCAACGTGCTGTGGTA	0.532													29	44					0	0	1	0	0	A	113815463	G	A	113815463	3	1	393	1	0	0	0	0	1	0	0	0	7445	1145	40	1	1106	1	HTR3B	11	113815463	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08	21247259	113815463	21191053	11	6617											
PSMA4	5685	broad.mit.edu	37	chr15	78837982	78837982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttgttaaaggaaaacGtccctttggtgtttcattgc	8	7	2	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr15:78837982G>A	uc002bdu.4	+	6	541	c.383G>A	c.(382-384)cGt>cAt	p.R128H	PSMA4_uc010blf.3_Missense_Mutation_p.R128H|PSMA4_uc002bdv.4_Missense_Mutation_p.R57H|PSMA4_uc002bdw.4_Missense_Mutation_p.R104H|PSMA4_uc002bdx.4_Missense_Mutation_p.R57H	NM_002789	NP_001096138	P25789	PSA4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA.	128					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AAAGGAAAACGTCCCTTTGGT	0.408													46	62					0	0	1	0	0	A	78837982	G	A	78837982	3	1	393	1	0	0	0	0	1	0	0	0	12669	1145	40	1	405	1	PSMA4	15	78837982	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		78837982	23693410	12	6618											
C17orf59	54785	broad.mit.edu	37	chr17	8093098	8093098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acggcagtccctcccggaggAgggcttgccctcgggcggcg	17	15	0	0			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr17:8093098A>C	uc010vut.2	-	0	467	c.361T>G	c.(361-363)Tcc>Gcc	p.S121A		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.	121										large_intestine(2)|lung(3)|urinary_tract(1)	6						CTCCCGGAGGAGGGCTTGCCC	0.731													6	12					0	0	1	0	0	C	8093098	A	C	8093098	3	2	393	1	0	0	0	0	1	0	0	0	1867	304	11	5	716	5	C17orf59	17	8093098	Missense_Mutation	SNP	A	TCGA-KS-A4I5-01A-11D-A257-08		8093098	73102112	13	6619											
MED9	55090	broad.mit.edu	37	chr17	17380300	17380300	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcgcggtggtgacgtGtagagtgcgcgacgcttttg	19	8	0	2			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr17:17380300G>A	uc002grh.1	+	1	1	c.-55_splice	c.e1-1			NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTGGTGACGTGTAGAGTGCGC	0.711													6	34					0	0	1	0	0	A	17380300	G	A	17380300	5	1	393	1	0	0	0	0	0	0	1	0	9454	1391	48	2		2	MED9	17	17380300	Splice_Site	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08	9287202	17380300	63814910	14	6620											
SLCO4C1	353189	broad.mit.edu	37	chr5	101599455	101599455	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatacatagccaatagcagGgcctaagattgacatagcat	8	9	0	2			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr5:101599455G>C	uc003knm.3	-	3	1119	c.832C>G	c.(832-834)Cct>Gct	p.P278A		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	278					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCAATAGCAGGGCCTAAGATT	0.373													21	41					0	0	1	0	0	C	101599455	G	C	101599455	3	2	394	1	0	0	0	0	1	0	0	0	14730	1232	43	4	1382	4	SLCO4C1	5	101599455	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08		101599455	79315805	1	6621											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				12	50					0	0	1	0	0	T	140453136	A	T	140453136	3	4	394	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4I9-01A-11D-A257-08		140453136	18685527	2	6622											
STAR	6770	broad.mit.edu	37	chr8	38005761	38005761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttggttgctaaggatgCccaaggccttctgcatggcc	11	13	2	0			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr8:38005761C>T	uc003xkv.1	-	2	527	c.263G>A	c.(262-264)gGc>gAc	p.G88D		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	88	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCTAAGGATGCCCAAGGCCTT	0.582													13	25					0	0	1	0	0	T	38005761	C	T	38005761	3	4	394	1	0	0	0	0	1	0	0	0	15253	739	26	2	614	2	STAR	8	38005761	Missense_Mutation	SNP	C	TCGA-KS-A4I9-01A-11D-A257-08		38005761	108358261	3	6623											
ZFP41	286128	broad.mit.edu	37	chr8	144332178	144332178	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccctgcctgagtcctgaAgacgaagagcacgtctttga	12	11	1	5			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr8:144332178A>C	uc003yxw.3	+	1	523	c.165A>C	c.(163-165)gaA>gaC	p.E55D	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.E55D	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	55					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P54P(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGAGTCCTGAAGACGAAGAGC	0.547													18	27					0	0	1	0	0	C	144332178	A	C	144332178	3	2	394	1	0	0	0	0	1	0	0	0	17646	69	3	5	167	5	ZFP41	8	144332178	Missense_Mutation	SNP	A	TCGA-KS-A4I9-01A-11D-A257-08	106326417	144332178	2031844	4	6624											
STARD3	10948	broad.mit.edu	37	chr17	37809863	37809863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccctgggctcctcactgTcccacagccagagcctctcc	7	21	2	1			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr17:37809863T>G	uc010wei.2	+	1	282	c.79T>G	c.(79-81)Tcc>Gcc	p.S27A	STARD3_uc010weg.2_Missense_Mutation_p.S27A|STARD3_uc002hsd.3_Missense_Mutation_p.S27A|STARD3_uc002hse.3_Missense_Mutation_p.S27A|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_5'UTR	NM_001165937	NP_001159409	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 2, mRNA.	27					cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTCCTCACTGTCCCACAGCCA	0.662											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	23					0	0	1	0	0	G	37809863	T	G	37809863	3	3	394	1	0	0	0	0	1	0	0	0	15256	1667	58	5	81	5	STARD3	17	37809863	Missense_Mutation	SNP	T	TCGA-KS-A4I9-01A-11D-A257-08		37809863	43385347	5	6625											
SMURF2	64750	broad.mit.edu	37	chr17	62542046	62542046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatagctttcatagggtgGaatgtctattcgattgaagc	10	6	3	1			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr17:62542046G>A	uc002jep.1	-	18	2555	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	SMURF2_uc002jeq.1_Missense_Mutation_p.P482S|SMURF2_uc002jer.1_Missense_Mutation_p.P482S	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	723	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCATAGGGTGGAATGTCTATT	0.368													19	26					0	0	1	0	0	A	62542046	G	A	62542046	3	1	394	1	0	0	0	0	1	0	0	0	14820	1174	41	2	83	2	SMURF2	17	62542046	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08	24732183	62542046	18653164	6	6626											
FBLN1	2192	broad.mit.edu	37	chr22	45970525	45970525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttccgcgagttcacccGccctgaaggtgagtgggatg	13	12	1	2			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr22:45970525G>A	uc003bgj.1	+	14	1979	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H		NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	611					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGTTCACCCGCCCTGAAGGT	0.627													5	15					0	0	1	0	0	A	45970525	G	A	45970525	3	1	394	1	0	0	0	0	1	0	0	0	5698	1087	38	1	2370	1	FBLN1	22	45970525	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08		45970525	5334041	7	6627											
PLEKHN1	84069	broad.mit.edu	37	chr1	902110	902113	+	Frame_Shift_Del	DEL	GCCT	GCCT	-													cagcgcgcggatgtcggccgGcctgccgggccccgaggctg							TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:902110_902113delGCCT	uc001ace.3	+	1	145_148	c.110_113delGCCT	c.(109-114)ggcctgfs	p.G37fs	PLEKHN1_uc001acd.3_Frame_Shift_Del_p.G37fs|PLEKHN1_uc001acf.3_Frame_Shift_Del_p.G37fs	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	37										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ATGTCGGCCGGCCTGCCGGGCCCC	0.74													5	1	---	---	---	---						-	902113	GCCT	-	902110	7	5	395	1	0	1	0	1	0	0	0	0	12083	1203	42	0	116	0	PLEKHN1	1	902110	Frame_Shift_Del	DEL	GCCT	TCGA-KS-A4IB-01A-11D-A257-08		902110	248348511	1	6628											
PDE4B	5142	broad.mit.edu	37	chr1	66379023	66379023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcaggagtgtgatgaCggtgatggctgatgatgtaa	16	3	0	5			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:66379023C>T	uc001dcn.3	+	1	217	c.26C>T	c.(25-27)aCg>aTg	p.T9M	PDE4B_uc009war.3_5'UTR|PDE4B_uc001dco.3_Missense_Mutation_p.T9M	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	9					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AGTGTGATGACGGTGATGGCT	0.403													14	24					0	0	1	0	0	T	66379023	C	T	66379023	3	4	395	1	0	0	0	0	1	0	0	0	11640	536	19	1	28	1	PDE4B	1	66379023	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08	65476913	66379023	182871598	2	6629											
FCRL2	79368	broad.mit.edu	37	chr1	157718364	157718364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctttctggctgctgcaTgctccagacctgagaataaa	10	10	1	3			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:157718364T>C	uc001fre.2	-	9	1497	c.1438A>G	c.(1438-1440)Atg>Gtg	p.M480V	FCRL2_uc001frd.2_Missense_Mutation_p.M227V|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	480					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCTGCTGCATGCTCCAGACC	0.458													47	31					0	0	1	0	0	C	157718364	T	C	157718364	3	2	395	1	0	0	0	0	1	0	0	0	5795	1464	51	3	100	3	FCRL2	1	157718364	Missense_Mutation	SNP	T	TCGA-KS-A4IB-01A-11D-A257-08	91339341	157718364	91532257	3	6630											
BSN	8927	broad.mit.edu	37	chr3	49691756	49691756	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacctactgaaacccagccCaccacccatggctacagcca	5	19	1	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr3:49691756C>G	uc003cxe.4	+	4	4881	c.4767C>G	c.(4765-4767)ccC>ccG	p.P1589P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1589					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAACCCAGCCCACCACCCATG	0.627													26	50					0	0	1	0	0	G	49691756	C	G	49691756	2	3	395	1	0	0	0	0	0	0	0	1	1530	581	21	4		4	BSN	3	49691756	Silent	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		49691756	148330674	4	6631											
TFR2	7036	broad.mit.edu	37	chr7	100230955	100230955	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgacccagtgcagggtgttgGggtgagccctggggagcggg	21	9	0	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:100230955G>C	uc003uvv.1	-	4	692	c.623C>G	c.(622-624)cCc>cGc	p.P208R	TFR2_uc010lhc.1_5'Flank|TFR2_uc003uvu.1_Missense_Mutation_p.P37R	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	208					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGGGTGTTGGGGTGAGCCCT	0.731													13	15					0	0	1	0	0	C	100230955	G	C	100230955	3	2	395	1	0	0	0	0	1	0	0	0	15808	1232	43	4	1838	4	TFR2	7	100230955	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		100230955	58907708	5	6632											
CUX1	1523	broad.mit.edu	37	chr7	101877481	101877481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaacgaccccaacaatGtggagaagctgatggacatg	13	9	0	3			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:101877481G>T	uc003uys.4	+	21	3743	c.3616G>T	c.(3616-3618)Gtg>Ttg	p.V1206L	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.V1195L	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1195					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCCAACAATGTGGAGAAGCT	0.577													30	42					0	0	1	0	0	T	101877481	G	T	101877481	3	4	395	1	0	0	0	0	1	0	0	0	4064	1377	48	4	3736	4	CUX1	7	101877481	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08	1646526	101877481	57261182	6	6633											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	37					0	0	1	0	0	T	140453136	A	T	140453136	3	4	395	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4IB-01A-11D-A257-08	38575655	140453136	18685527	7	6634											
TTPA	7274	broad.mit.edu	37	chr8	63985561	63985561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggactccatggtagccagcCtttaggaggccaataatact	10	10	0	0			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr8:63985561C>A	uc003xux.2	-	1	323	c.291G>T	c.(289-291)aaG>aaT	p.K97N		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	97	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GGTAGCCAGCCTTTAGGAGGC	0.383													27	35					0	0	1	0	0	A	63985561	C	A	63985561	3	1	395	1	0	0	0	0	1	0	0	0	16733	680	24	4	561	4	TTPA	8	63985561	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		63985561	82378461	8	6635											
NSUN6	221078	broad.mit.edu	37	chr10	18840835	18840835	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgtttggtctctgtcCcattccactacagggtgcat	10	12	1	0			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr10:18840835C>A	uc010qcp.1	-	8	1406	c.988G>T	c.(988-990)Gga>Tga	p.G330*		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	330							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGTCTCTGTCCCATTCCACTA	0.428													24	56					0	0	1	0	0	A	18840835	C	A	18840835	4	1	395	1	0	0	0	0	0	1	0	0	10682	632	22	4	433	4	NSUN6	10	18840835	Nonsense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		18840835	116693912	9	6636											
RET	5979	broad.mit.edu	37	chr10	43601916	43601916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacaagcacgctgctcccCggggacacctgggcccagca	11	17	0	0			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr10:43601916C>T	uc001jal.3	+	4	1150	c.960C>T	c.(958-960)ccC>ccT	p.P320P	RET_uc001jak.1_Silent_p.P320P|RET_uc010qez.1_Silent_p.P66P	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	320					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCTGCTCCCCGGGGACACCT	0.657		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				13	16					0	0	1	0	0	T	43601916	C	T	43601916	2	4	395	1	0	0	0	0	0	0	0	1	13235	639	23	1		1	RET	10	43601916	Silent	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08	24761081	43601916	91932831	10	6637											
NYNRIN	57523	broad.mit.edu	37	chr14	24880401	24880401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagctgaagaagaaccGgagggtgagaggtgaggtgt	19	5	0	5			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr14:24880401G>A	uc001wpf.4	+	4	2852	c.2534G>A	c.(2533-2535)cGg>cAg	p.R845Q		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	845					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGAAGAACCGGAGGGTGAGA	0.597											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	141					0	0	1	0	0	A	24880401	G	A	24880401	3	1	395	1	0	0	0	0	1	0	0	0	10796	1116	39	1	2548	1	NYNRIN	14	24880401	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		24880401	82469139	11	6638											
HIF1A	3091	broad.mit.edu	37	chr14	62203750	62203750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcctctttgacaaacttaAgaaggaacctgatgctttaa	7	8	1	3			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr14:62203750A>G	uc021rua.1	+	8	1473	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	HIF1A_uc001xfq.2_Missense_Mutation_p.K391R|HIF1A_uc001xfr.2_Missense_Mutation_p.K391R|HIF1A_uc001xfs.2_Missense_Mutation_p.K392R	NM_001243084	NP_001230013	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 3, mRNA.	391	N-terminal VHL recognition site.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GACAAACTTAAGAAGGAACCT	0.393													19	25					0	0	1	0	0	G	62203750	A	G	62203750	3	3	395	1	0	0	0	0	1	0	0	0	7103	72	3	3	1206	3	HIF1A	14	62203750	Missense_Mutation	SNP	A	TCGA-KS-A4IB-01A-11D-A257-08	37323349	62203750	45145790	12	6639											
NIPA1	123606	broad.mit.edu	37	chr15	23048861	23048861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	catattagatttgttcatctCcccaaggttgaaattgaact	6	8	2	3			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr15:23048861C>G	uc001yvc.3	-	4	983	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	NIPA1_uc001yvd.3_Missense_Mutation_p.E150Q|NIPA1_uc001yve.3_Missense_Mutation_p.E245Q	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	320					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTGTTCATCTCCCCAAGGTTG	0.478													12	31					0	0	1	0	0	G	23048861	C	G	23048861	3	3	395	1	0	0	0	0	1	0	0	0	10422	864	30	4	35	4	NIPA1	15	23048861	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		23048861	79482531	13	6640											
LRRC49	54839	broad.mit.edu	37	chr15	71300716	71300716	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattatactttgggttttccAggcctctagactcaggactc	8	10	2	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr15:71300716A>G	uc010ukf.2	+	12	1491	c.1185_splice	c.e12-2	p.G395_splice	LRRC49_uc002asu.3_Splice_Site_p.G380_splice|LRRC49_uc002asx.3_Splice_Site_p.G346_splice|LRRC49_uc002asw.3_Splice_Site_p.G390_splice|LRRC49_uc002asy.3_Splice_Site_p.G96_splice|LRRC49_uc002asz.3_Splice_Site_p.G362_splice	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	390						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGGGTTTTCCAGGCCTCTAGA	0.363													4	37					0	0	1	0	0	G	71300716	A	G	71300716	5	3	395	1	0	0	0	0	0	0	1	0	9006	202	7	3	1214	3	LRRC49	15	71300716	Splice_Site	SNP	A	TCGA-KS-A4IB-01A-11D-A257-08	48251855	71300716	31230676	14	6641											
DNAH9	1770	broad.mit.edu	37	chr17	11687720	11687720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctcggaaacttcccggCgtccctgcagaaatccatcc	9	15	0	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr17:11687720C>T	uc002gne.3	+	40	7993	c.7925C>T	c.(7924-7926)gCg>gTg	p.A2642V	DNAH9_uc010coo.3_Missense_Mutation_p.A1936V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2642	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A2642V(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTCCCGGCGTCCCTGCAG	0.547													76	99					0	0	1	0	0	T	11687720	C	T	11687720	3	4	395	1	0	0	0	0	1	0	0	0	4608	768	27	1	8087	1	DNAH9	17	11687720	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		11687720	69507490	15	6642											
CHEK2	11200	broad.mit.edu	37	chr22	29121246	29121246	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctaccctgaaaatccgaaaGtgtttcttgctgtatgttcg	8	10	1	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr22:29121246G>C	uc003adt.1	-	3	630	c.558C>G	c.(556-558)caC>caG	p.H186Q	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.H143Q|CHEK2_uc003adu.1_Missense_Mutation_p.H143Q|CHEK2_uc003adv.1_Missense_Mutation_p.H143Q|CHEK2_uc003adx.1_5'UTR	NM_001005735	NP_001005735	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.	143					DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAATCCGAAAGTGTTTCTTGC	0.373			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					39	5					0	0	1	0	0	C	29121246	G	C	29121246	3	2	395	1	0	0	0	0	1	0	0	0	3335	1020	36	4	1254	4	CHEK2	22	29121246	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		29121246	22183320	16	6643											
ZNF275	10838	broad.mit.edu	37	chrX	152613380	152613380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcagccagtgtggccgcGtgttcaagaggcgctcggca	15	11	1	1			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chrX:152613380G>A	uc011myn.2	+	1	1950	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	ZNF275_uc004fhg.2_3'UTR|ZNF275_uc022cht.1_Missense_Mutation_p.V350M|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	301						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGGCCGCGTGTTCAAGAG	0.682													5	5					0	0	1	0	0	A	152613380	G	A	152613380	3	1	395	1	0	0	0	0	1	0	0	0	17807	1160	40	1		1	ZNF275	23	152613380	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		152613380	2657180	17	6644											
ANKRD53	79998	broad.mit.edu	37	chr2	71206350	71206350	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagcaaggagtccgaccaGacggcaatcgaccagacggc	12	15	0	2			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:71206350G>A	uc002shl.4	+	1	495	c.294G>A	c.(292-294)caG>caA	p.Q98Q	ANKRD53_uc002shk.4_Silent_p.Q98Q	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.	98										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AGTCCGACCAGACGGCAATCG	0.682													9	66					0	0	1	0	0	A	71206350	G	A	71206350	2	1	396	1	0	0	0	0	0	0	0	1	679	933	33	2		2	ANKRD53	2	71206350	Silent	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08		71206350	171993023	1	6645											
SF3B1	23451	broad.mit.edu	37	chr2	198265531	198265531	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctcccaaattacccaTaattttctcaattgtctcca	3	13	2	0			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:198265531T>A	uc002uue.3	-	17	2674	c.2626A>T	c.(2626-2628)Atg>Ttg	p.M876L	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	876					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAATTACCCATAATTTTCTCA	0.368			Mis		myelodysplastic syndrome								17	32					0	0	1	0	0	A	198265531	T	A	198265531	3	1	396	1	0	0	0	0	1	0	0	0	14149	1406	49	5	1320	5	SF3B1	2	198265531	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08	127059181	198265531	44933842	2	6646											
NDUFS1	4719	broad.mit.edu	37	chr2	207011657	207011657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggccgggcagtaaaggcaTagggcttagaggttagggca	17	6	0	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:207011657T>C	uc010ziq.2	-	7	810	c.749A>G	c.(748-750)tAt>tGt	p.Y250C	NDUFS1_uc002vbe.3_Missense_Mutation_p.Y236C|NDUFS1_uc010zir.2_Missense_Mutation_p.Y200C|NDUFS1_uc010zis.2_Missense_Mutation_p.Y179C|NDUFS1_uc010zit.2_Missense_Mutation_p.Y125C|NDUFS1_uc010ziu.2_Missense_Mutation_p.Y120C	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	236					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AGTAAAGGCATAGGGCTTAGA	0.363													8	63					0	0	1	0	0	C	207011657	T	C	207011657	3	2	396	1	0	0	0	0	1	0	0	0	10291	1406	49	3	1524	3	NDUFS1	2	207011657	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08	8746126	207011657	36187716	3	6647											
NKIRAS1	28512	broad.mit.edu	37	chr3	23942418	23942418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgaaaaataatgctTtggcagctccacgccttcct	7	11	0	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr3:23942418T>C	uc003cck.3	-	3	596	c.217A>G	c.(217-219)Aag>Gag	p.K73E	NKIRAS1_uc003ccj.3_Missense_Mutation_p.K73E	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.	73	Interactions with NFKBIA and NFKBIB.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						AAATAATGCTTTGGCAGCTCC	0.408													6	76					0	0	1	0	0	C	23942418	T	C	23942418	3	2	396	1	0	0	0	0	1	0	0	0	10444	1850	64	3	369	3	NKIRAS1	3	23942418	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08		23942418	174080012	4	6648											
ATG12	9140	broad.mit.edu	37	chr5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgcaacacagactgcGgctcctccgccatcttgctt	9	15	1	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr5:115177236G>A	uc003krh.3	-	0	313	c.14C>T	c.(13-15)cCg>cTg	p.P5L	AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Missense_Mutation_p.P52L	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	5					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607													9	101					0	0	1	0	0	A	115177236	G	A	115177236	3	1	396	1	0	0	0	0	1	0	0	0	1090	1116	39	1	424	1	ATG12	5	115177236	Missense_Mutation	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08		115177236	65738024	5	6649											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				20	29					0	0	1	0	0	T	140453136	A	T	140453136	3	4	396	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4EP-01A-11D-A257-08		140453136	18685527	6	6650											
OR2AT4	341152	broad.mit.edu	37	chr11	74800178	74800178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggggggtggtgtcagagCaggaggcctggaccacagcc	18	10	2	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr11:74800178C>T	uc010rro.2	-	0	581	c.581G>A	c.(580-582)tGc>tAc	p.C194Y		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGTGTCAGAGCAGGAGGCCTG	0.567													8	52					0	0	1	0	0	T	74800178	C	T	74800178	3	4	396	1	0	0	0	0	1	0	0	0	10987	710	25	2	384	2	OR2AT4	11	74800178	Missense_Mutation	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		74800178	60206338	7	6651											
YLPM1	56252	broad.mit.edu	37	chr14	75265980	75265980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacagtttcgtgaacgggAtattccatctcttccacctt	6	12	2	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr14:75265980A>G	uc001xqj.4	+	4	4104	c.3980A>G	c.(3979-3981)gAt>gGt	p.D1327G	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CGTGAACGGGATATTCCATCT	0.448													5	70					0	0	1	0	0	G	75265980	A	G	75265980	3	3	396	1	0	0	0	0	1	0	0	0	17483	333	12	3	3998	3	YLPM1	14	75265980	Missense_Mutation	SNP	A	TCGA-L6-A4EP-01A-11D-A257-08		75265980	32083560	8	6652											
OSGIN1	29948	broad.mit.edu	37	chr16	83998897	83998897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttctcgctgtgggcccGcaacgtggtcctcgccacag	12	17	1	0			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr16:83998897G>A	uc002fha.3	+	6	968	c.968G>A	c.(967-969)cGc>cAc	p.R323H	OSGIN1_uc002fhb.3_Missense_Mutation_p.R240H|OSGIN1_uc002fhc.3_Missense_Mutation_p.R240H	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	323					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGTGGGCCCGCAACGTGGTC	0.697													4	55					0	0	1	0	0	A	83998897	G	A	83998897	3	1	396	1	0	0	0	0	1	0	0	0	11289	1087	38	1	994	1	OSGIN1	16	83998897	Missense_Mutation	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08		83998897	6355856	9	6653											
GFAP	2670	broad.mit.edu	37	chr17	42987560	42987560	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcctgtattggtataaCtcgtattgtgaggcttttga	12	5	0	3			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr17:42987560C>G	uc002ihr.3	-	7	1306	c.1240G>C	c.(1240-1242)Gtt>Ctt	p.V414L	GFAP_uc002ihq.3_Intron|GFAP_uc021tyh.1_3'UTR|GFAP_uc021tyg.1_5'Flank	NM_001131019	NP_001124491	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 2, mRNA.	412	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATTGGTATAACTCGTATTGTG	0.493													36	55					0	0	1	0	0	G	42987560	C	G	42987560	3	3	396	1	0	0	0	0	1	0	0	0	6337	565	20	4	195	4	GFAP	17	42987560	Missense_Mutation	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		42987560	38207650	10	6654											
PRPF6	24148	broad.mit.edu	37	chr20	62631011	62631011	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcgggagacgaaccctcatCacccgccagcctggattgca	10	15	2	1			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr20:62631011C>T	uc002yho.3	+	7	1090	c.922C>T	c.(922-924)Cac>Tac	p.H308Y	PRPF6_uc002yhp.3_Missense_Mutation_p.H308Y	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	308					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GAACCCTCATCACCCGCCAGC	0.567													7	75					0	0	1	0	0	T	62631011	C	T	62631011	3	4	396	1	0	0	0	0	1	0	0	0	12574	826	29	2	952	2	PRPF6	20	62631011	Missense_Mutation	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		62631011	394509	11	6655											
HUWE1	10075	broad.mit.edu	37	chrX	53654447	53654447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacaaacggacattcttttCggcacaaatctacttcatgc	5	12	4	0			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chrX:53654447C>T	uc004dsp.3	-	16	1805	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	468					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACATTCTTTTCGGCACAAATC	0.308													27	47					0	0	1	0	0	T	53654447	C	T	53654447	3	4	396	1	0	0	0	0	1	0	0	0	7461	884	31	1	11993	1	HUWE1	23	53654447	Missense_Mutation	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		53654447	101616113	12	6656											
KYNU	8942	broad.mit.edu	37	chr2	143790821	143790821	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaactgcagttaatcccTggggtctgtggattccgaat	11	9	2	1			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr2:143790821T>G	uc010fnm.3	+	12	1188	c.972T>G	c.(970-972)ccT>ccG	p.P324P	KYNU_uc002tvl.3_Silent_p.P324P	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	324					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGTTAATCCCTGGGGTCTGTG	0.378													54	97					0	0	1	0	0	G	143790821	T	G	143790821	2	3	397	1	0	0	0	0	0	0	0	1	8587	1567	55	5		5	KYNU	2	143790821	Silent	SNP	T	TCGA-L6-A4ET-01A-11D-A257-08		143790821	99408552	1	6657											
ZFYVE20	64145	broad.mit.edu	37	chr3	15124046	15124046	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcggcgggagccatggAcactgttgggtgactggctg	17	10	0	1			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr3:15124046A>T	uc003bzm.1	-	8	1282	c.668T>A	c.(667-669)gTc>gAc	p.V223D	ZFYVE20_uc010hek.1_Missense_Mutation_p.V223D|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	223	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGAGCCATGGACACTGTTGGG	0.592													5	57					0	0	1	0	0	T	15124046	A	T	15124046	3	4	397	1	0	0	0	0	1	0	0	0	17663	275	10	5	1710	5	ZFYVE20	3	15124046	Missense_Mutation	SNP	A	TCGA-L6-A4ET-01A-11D-A257-08		15124046	182898384	2	6658											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	32					0	0	1	0	0	T	140453136	A	T	140453136	3	4	397	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4ET-01A-11D-A257-08		140453136	18685527	3	6659											
PDSS1	23590	broad.mit.edu	37	chr10	27035361	27035361	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccccagaaagagatgccCtcattcagctttcagaaatt	6	12	3	3			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr10:27035361C>A	uc001isv.3	+	11	1253	c.1207C>A	c.(1207-1209)Ctc>Atc	p.L403I	PDSS1_uc001isw.3_3'UTR|PDSS1_uc010qdf.2_Missense_Mutation_p.L141I	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	403					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAGAGATGCCCTCATTCAGCT	0.433													20	40					0	0	1	0	0	A	27035361	C	A	27035361	3	1	397	1	0	0	0	0	1	0	0	0	11693	681	24	4	1253	4	PDSS1	10	27035361	Missense_Mutation	SNP	C	TCGA-L6-A4ET-01A-11D-A257-08		27035361	108499386	4	6660											
UBE4A	9354	broad.mit.edu	37	chr11	118240215	118240215	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaatggcagtagagctagaaGatcaagactggcttgatatg	12	5	1	5			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr11:118240215G>C	uc001psv.3	+	3	508	c.373G>C	c.(373-375)Gat>Cat	p.D125H	UBE4A_uc001psw.3_Missense_Mutation_p.D125H	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 1, mRNA.	125					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGCTAGAAGATCAAGACTG	0.428													5	42					0	0	1	0	0	C	118240215	G	C	118240215	3	2	397	1	0	0	0	0	1	0	0	0	16879	942	33	4	383	4	UBE4A	11	118240215	Missense_Mutation	SNP	G	TCGA-L6-A4ET-01A-11D-A257-08		118240215	16766301	5	6661											
PAQR4	124222	broad.mit.edu	37	chr16	3019765	3019765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgctgaccgggtaccgGcccgccagcagcggctcggg	16	15	0	1			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr16:3019765G>A	uc002csj.4	+	0	424	c.90G>A	c.(88-90)cgG>cgA	p.R30R	PAQR4_uc002csk.4_Silent_p.R30R|PAQR4_uc002csl.4_Silent_p.R30R|PAQR4_uc010uwm.2_5'Flank	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	30						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCGGGTACCGGCCCGCCAGCA	0.692													10	22					0	0	1	0	0	A	3019765	G	A	3019765	2	1	397	1	0	0	0	0	0	0	0	1	11437	1190	42	2		2	PAQR4	16	3019765	Silent	SNP	G	TCGA-L6-A4ET-01A-11D-A257-08		3019765	87334988	6	6662											
SMCHD1	23347	broad.mit.edu	37	chr18	2728543	2728543	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcaggtggaagttttAgatgaatcagacaacataac	8	7	2	3			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr18:2728543A>G	uc002klm.4	+	22	3051	c.2862A>G	c.(2860-2862)ttA>ttG	p.L954L	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	954					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGGAAGTTTTAGATGAATCAG	0.358													21	27					0	0	1	0	0	G	2728543	A	G	2728543	2	3	397	1	0	0	0	0	0	0	0	1	14788	417	15	3		3	SMCHD1	18	2728543	Silent	SNP	A	TCGA-L6-A4ET-01A-11D-A257-08		2728543	75348705	7	6663											
DNALI1	7802	broad.mit.edu	37	chr1	38022591	38022591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggttgctactctcgcctCcgccatgattccgcccgcag	10	17	1	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:38022591C>T	uc001cbj.3	+	0	72	c.62C>T	c.(61-63)tCc>tTc	p.S21F	SNIP1_uc010oid.2_5'Flank|SNIP1_uc001cbi.3_5'Flank|DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	0					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACTCTCGCCTCCGCCATGATT	0.637													6	58					0	0	1	0	0	T	38022591	C	T	38022591	3	4	398	1	0	0	0	0	1	0	0	0	4659	855	30	2	64	2	DNALI1	1	38022591	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		38022591	211228030	1	6664											
MACF1	23499	broad.mit.edu	37	chr1	39799522	39799522	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaacgaggcaaaaaagtttCagtaactttggcctcaactc	8	9	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:39799522C>T	uc021olw.1	+	0	2582	c.2582C>T	c.(2581-2583)tCa>tTa	p.S861L	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2426					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAAAAGTTTCAGTAACTTTG	0.433													5	87					0	0	1	0	0	T	39799522	C	T	39799522	3	4	398	1	0	0	0	0	1	0	0	0	9144	838	29	2	7353	2	MACF1	1	39799522	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	1776931	39799522	209451099	2	6665											
CACNA1E	777	broad.mit.edu	37	chr1	181767468	181767468	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagctccatcccctctgtctCtgacaccagcaccccaagaa	6	18	2	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:181767468C>G	uc009wxt.3	+	47	6635	c.6440C>G	c.(6439-6441)tCt>tGt	p.S2147C	CACNA1E_uc001gow.3_Missense_Mutation_p.S2104C|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2085C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2147					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCTCTGTCTCTGACACCAGC	0.592													13	182					0	0	1	0	0	G	181767468	C	G	181767468	3	3	398	1	0	0	0	0	1	0	0	0	2542	913	32	4	6497	4	CACNA1E	1	181767468	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	141967946	181767468	67483153	3	6666											
DPYSL5	56896	broad.mit.edu	37	chr2	27165613	27165613	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaagaagctggtccagagaGagaaggtgaggtgggaggag	19	4	0	4			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:27165613G>C	uc002rhu.4	+	10	1593	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	DPYSL5_uc002rhv.4_Missense_Mutation_p.E479Q|DPYSL5_uc021vev.1_Missense_Mutation_p.E479Q	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	479					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCAGAGAGAGAAGGTGAG	0.562											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	48					0	0	1	0	0	C	27165613	G	C	27165613	3	2	398	1	0	0	0	0	1	0	0	0	4750	943	33	4	1473	4	DPYSL5	2	27165613	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		27165613	216033760	4	6667											
LRPPRC	10128	broad.mit.edu	37	chr2	44174896	44174896	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagtctaaattcttactctCaaccaacaagtgagcatcct	4	11	3	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:44174896C>G	uc002rtr.2	-	18	1997	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q	LRPPRC_uc010yob.1_Missense_Mutation_p.E547Q	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	647					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCTTACTCTCAACCAACAAG	0.294													4	19					0	0	1	0	0	G	44174896	C	G	44174896	3	3	398	1	0	0	0	0	1	0	0	0	8965	835	29	4	2325	4	LRPPRC	2	44174896	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	17009283	44174896	199024477	5	6668											
C2orf73	129852	broad.mit.edu	37	chr2	54562140	54562141	+	Frame_Shift_Ins	INS	-	-	A													catttccctacatagatcccINSaaaaaagggccagaaataca							TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:54562140_54562141insA	uc002rxt.1	+	1	255_256	c.213_214insA	c.(211-216)cccaaafs	p.P71fs	C2orf73_uc010yor.1_Intron|C2orf73_uc002rxs.1_Intron|C2orf73_uc010yos.1_Intron	NM_001100396	NP_001093866	Q8N5S3	CB073_HUMAN	Homo sapiens chromosome 2 open reading frame 73 (C2orf73), mRNA.	71										breast(2)	2						ACATAGATCCCAAAAAAGGGCC	0.332													2	4	---	---	---	---						A	54562141	-	A	54562140	7	5	398	1	0	1	1	0	0	0	0	0	2192	581	21	0	219	0	C2orf73	2	54562140	Frame_Shift_Ins	INS	-	TCGA-L6-A4EU-01A-11D-A257-08	10387244	54562140	188637233	6	6669											
FSIP2	401024	broad.mit.edu	37	chr2	186672259	186672259	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgtagaaaccttacaatctGatgatgatgaaattattcaa	6	5	2	5			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:186672259G>C	uc002upl.3	+	16	18493	c.18493G>C	c.(18493-18495)Gat>Cat	p.D6165H	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTACAATCTGATGATGATGA	0.328													7	101					0	0	1	0	0	C	186672259	G	C	186672259	3	2	398	1	0	0	0	0	1	0	0	0	6075	1290	45	4	18559	4	FSIP2	2	186672259	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	132110119	186672259	56527114	7	6670											
UBP1	7342	broad.mit.edu	37	chr3	33450189	33450189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagtcccttacactgcctCgctttgccagagaatcaccg	8	14	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:33450189C>T	uc003cfq.4	-	7	1450	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	UBP1_uc003cfr.4_Intron|UBP1_uc010hga.3_Missense_Mutation_p.R307Q	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	307					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TACACTGCCTCGCTTTGCCAG	0.448													5	63					0	0	1	0	0	T	33450189	C	T	33450189	3	4	398	1	0	0	0	0	1	0	0	0	16892	884	31	1	738	1	UBP1	3	33450189	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		33450189	164572241	8	6671											
KLHDC8B	200942	broad.mit.edu	37	chr3	49210251	49210251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaagtgttcccccccAtgcccacttgccgggtctat	9	16	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49210251A>G	uc003cwh.3	+	1	284	c.49A>G	c.(49-51)Atg>Gtg	p.M17V	KLHDC8B_uc003cwi.1_5'Flank	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	17						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTCCCCCCCATGCCCACTTG	0.632													22	57					0	0	1	0	0	G	49210251	A	G	49210251	3	3	398	1	0	0	0	0	1	0	0	0	8363	217	8	3	51	3	KLHDC8B	3	49210251	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	15760062	49210251	148812179	9	6672											
MST1R	4486	broad.mit.edu	37	chr3	49933541	49933541	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgcccagcccaatataCtgcagagagggtcatgagga	12	11	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49933541C>T	uc003cxy.4	-	11	2914	c.2650_splice	c.e11-1	p.Y884_splice	MST1R_uc011bdc.2_Intron	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	884					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCAATATACTGCAGAGAGG	0.577													55	127					0	0	1	0	0	T	49933541	C	T	49933541	5	4	398	1	0	0	0	0	0	0	1	0	9891	579	20	2	1593	2	MST1R	3	49933541	Splice_Site	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	723290	49933541	148088889	10	6673											
CARD6	84674	broad.mit.edu	37	chr5	40854171	40854171	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaaactaagacctgcttctCagcaaggagtccagatgaag	9	9	1	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854171C>T	uc003jmg.3	+	2	2812	c.2737C>T	c.(2737-2739)Cag>Tag	p.Q913*		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	913					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACCTGCTTCTCAGCAAGGAGT	0.478													11	190					0	0	1	0	0	T	40854171	C	T	40854171	4	4	398	1	0	0	0	0	0	1	0	0	2650	827	29	2	2747	2	CARD6	5	40854171	Nonsense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		40854171	140061089	11	6674											
CARD6	84674	broad.mit.edu	37	chr5	40854298	40854298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccatccacagtcaaacactCccagcctaaacccttccatt	2	19	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854298C>G	uc003jmg.3	+	2	2939	c.2864C>G	c.(2863-2865)tCc>tGc	p.S955C		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	955					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTCAAACACTCCCAGCCTAAA	0.502													24	282					0	0	1	0	0	G	40854298	C	G	40854298	3	3	398	1	0	0	0	0	1	0	0	0	2650	855	30	4	2874	4	CARD6	5	40854298	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	127	40854298	140060962	12	6675											
PELO	53918	broad.mit.edu	37	chr5	52097426	52097426	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcaggtggagaaggccaatGaagccatggcaattgacaca	13	8	0	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:52097426G>T	uc003jos.3	+	2	1895	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	304					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GAAGGCCAATGAAGCCATGGC	0.502													20	48					0	0	1	0	0	T	52097426	G	T	52097426	4	4	398	1	0	0	0	0	0	1	0	0	11724	1291	45	4	916	4	PELO	5	52097426	Nonsense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	11243128	52097426	128817834	13	6676											
LOX	4015	broad.mit.edu	37	chr5	121413255	121413255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcgctgtctggttctcCgcgcgcgaggcgccagcttc	14	17	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:121413255C>T	uc003ksu.3	-	0	801	c.426G>A	c.(424-426)gcG>gcA	p.A142A	LOX_uc010jcq.3_5'Flank|LOX_uc010jcr.3_5'Flank|LOX_uc011cwk.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.	142					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCTGGTTCTCCGCGCGCGAGG	0.682													28	38					0	0	1	0	0	T	121413255	C	T	121413255	2	4	398	1	0	0	0	0	0	0	0	1	8898	639	23	1		1	LOX	5	121413255	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	69315829	121413255	59502005	14	6677											
DST	667	broad.mit.edu	37	chr6	56496024	56496024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catacttatctatgtaagtgGaagacatagaatagacttgg	9	5	1	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:56496024G>A	uc003pcy.4	-	15	2624	c.2516C>T	c.(2515-2517)tCc>tTc	p.S839F	DST_uc021zay.1_Missense_Mutation_p.S1205F|DST_uc021zax.1_Missense_Mutation_p.S839F|DST_uc003pdc.4_Missense_Mutation_p.S839F|DST_uc003pdd.4_Missense_Mutation_p.S839F	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1165					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTAAGTGGAAGACATAGA	0.318													7	23					0	0	1	0	0	A	56496024	G	A	56496024	3	1	398	1	0	0	0	0	1	0	0	0	4783	1174	41	2	17915	2	DST	6	56496024	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		56496024	114619043	15	6678											
CPA1	1357	broad.mit.edu	37	chr7	130027837	130027837	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accatcatggagcacaccctGaatcacccctactgagctga	7	15	2	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:130027837G>C	uc003vpx.3	+	9	1317	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L		NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	415					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGCACACCCTGAATCACCCCT	0.567													14	278					0	0	1	0	0	C	130027837	G	C	130027837	2	2	398	1	0	0	0	0	0	0	0	1	3789	1277	45	4		4	CPA1	7	130027837	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		130027837	29110826	16	6679											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	26					0	0	1	0	0	T	140453136	A	T	140453136	3	4	398	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	10425299	140453136	18685527	17	6680											
KEL	3792	broad.mit.edu	37	chr7	142650897	142650897	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcccacctgcggcgaacctCtgctttagcagcatctcctc	7	17	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:142650897C>G	uc003wcb.3	-	8	1281	c.1071G>C	c.(1069-1071)caG>caC	p.Q357H		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	357					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGGCGAACCTCTGCTTTAGCA	0.547													22	345					0	0	1	0	0	G	142650897	C	G	142650897	3	3	398	1	0	0	0	0	1	0	0	0	8142	912	32	4	1171	4	KEL	7	142650897	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	2197761	142650897	16487766	18	6681											
FER1L6	654463	broad.mit.edu	37	chr8	125072866	125072866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggctctcattgagtgCggaggacaaggtgtgaagtc	14	9	2	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr8:125072866C>T	uc003yqw.3	+	23	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1021						integral to membrane		p.C1021C(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547													26	56					0	0	1	0	0	T	125072866	C	T	125072866	2	4	398	1	0	0	0	0	0	0	0	1	5815	776	27	1		1	FER1L6	8	125072866	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		125072866	21291156	19	6682											
DDX58	23586	broad.mit.edu	37	chr9	32457322	32457322	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcacagaatatctttgctCttttttcaaaacttgaaaac	6	8	3	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:32457322C>T	uc003zra.3	-	17	2734	c.2576G>A	c.(2575-2577)aGa>aAa	p.R859K	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mji.3_Missense_Mutation_p.R788K	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	859	Repressor domain.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TATCTTTGCTCTTTTTTCAAA	0.398													10	54					0	0	1	0	0	T	32457322	C	T	32457322	3	4	398	1	0	0	0	0	1	0	0	0	4375	913	32	2	205	2	DDX58	9	32457322	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		32457322	108756109	20	6683											
TMEM2	23670	broad.mit.edu	37	chr9	74360334	74360334	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccaaatgttggcatactttCaccttcatctgacttgccat	6	12	3	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:74360334C>T	uc011lsa.1	-	3	1174	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	TMEM2_uc010mos.2_Missense_Mutation_p.E212K|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	212	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGCATACTTTCACCTTCATCT	0.483													31	72					0	0	1	0	0	T	74360334	C	T	74360334	3	4	398	1	0	0	0	0	1	0	0	0	16118	835	29	2	3601	2	TMEM2	9	74360334	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	41903012	74360334	66853097	21	6684											
C9orf152	401546	broad.mit.edu	37	chr9	112963659	112963662	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													ctccagcctcccctccacctCagaatctgcctcttccaggg							TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:112963659_112963662delCAGA	uc011lwk.2	-	1	840_843	c.286_289delTCTG	c.(286-291)tctgagfs	p.S96fs	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	96								p.E76Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCCTCCACCTCAGAATCTGCCTCT	0.554													29	54	---	---	---	---						-	112963662	CAGA	-	112963659	7	5	398	1	0	1	0	1	0	0	0	0	2463	835	29	0	434	0	C9orf152	9	112963659	Frame_Shift_Del	DEL	CAGA	TCGA-L6-A4EU-01A-11D-A257-08	38603325	112963659	28249772	22	6685											
BEND7	222389	broad.mit.edu	37	chr10	13541899	13541899	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acaccacgtgaagacgggtgGaggctttgcggggcctcagc	16	11	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13541899G>C	uc001imm.2	-	2	468	c.171C>G	c.(169-171)ctC>ctG	p.L57L	BEND7_uc001imo.4_Silent_p.L57L	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	109							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AAGACGGGTGGAGGCTTTGCG	0.562													8	115					0	0	1	0	0	C	13541899	G	C	13541899	2	2	398	1	0	0	0	0	0	0	0	1	1403	1161	41	4		4	BEND7	10	13541899	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		13541899	121992848	23	6686											
FRMD4A	55691	broad.mit.edu	37	chr10	13708199	13708199	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtttcttcagtgcattcaGatacgaggttttcctttgtt	8	8	3	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13708199G>A	uc001ims.3	-	17	1853	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L	FRMD4A_uc009xjf.1_Silent_p.L501L|FRMD4A_uc001imt.1_Silent_p.L534L	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	501						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGTGCATTCAGATACGAGGTT	0.493													27	87					0	0	1	0	0	A	13708199	G	A	13708199	2	1	398	1	0	0	0	0	0	0	0	1	6051	933	33	2		2	FRMD4A	10	13708199	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	166300	13708199	121826548	24	6687											
OPN4	94233	broad.mit.edu	37	chr10	88419672	88419672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctctccagaccttcggggCctgcaagggcaatggcgagt	15	12	1	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:88419672C>A	uc010qmk.1	+	6	1081	c.854C>A	c.(853-855)gCc>gAc	p.A285D	OPN4_uc001kdp.3_Missense_Mutation_p.A285D|OPN4_uc001kdq.3_Missense_Mutation_p.A274D|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	274					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						ACCTTCGGGGCCTGCAAGGGC	0.637													5	61					0	0	1	0	0	A	88419672	C	A	88419672	3	1	398	1	0	0	0	0	1	0	0	0	10882	739	26	4	880	4	OPN4	10	88419672	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	74711473	88419672	47115075	25	6688											
C10orf62	414157	broad.mit.edu	37	chr10	99349675	99349675	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgctgtgggttcagagaaaGaggagaagaaaggaaacctc	14	5	1	4			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:99349675G>C	uc001koa.3	+	0	226	c.21G>C	c.(19-21)aaG>aaC	p.K7N	PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.	7							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TTCAGAGAAAGAGGAGAAGAA	0.498													5	88					0	0	1	0	0	C	99349675	G	C	99349675	3	2	398	1	0	0	0	0	1	0	0	0	1611	933	33	4	23	4	C10orf62	10	99349675	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	10930003	99349675	36185072	26	6689											
FAM53B	9679	broad.mit.edu	37	chr10	126312016	126312016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggggaagaggctcagggAccggggtcccagcgggggtc	21	9	1	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:126312016A>C	uc001lhv.1	-	4	1587	c.1064T>G	c.(1063-1065)gTc>gGc	p.V355G	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	355										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGCTCAGGGACCGGGGTCCC	0.706													13	11					0	0	1	0	0	C	126312016	A	C	126312016	3	2	398	1	0	0	0	0	1	0	0	0	5580	275	10	5	208	5	FAM53B	10	126312016	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	26962341	126312016	9222731	27	6690											
CBX5	23468	broad.mit.edu	37	chr12	54651351	54651351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttgtcccttaaccacgcgCctgtctagcaccttctccac	5	18	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:54651351C>A	uc001sfk.4	-	1	250	c.84G>T	c.(82-84)agG>agT	p.R28S	CBX5_uc001sfh.4_Missense_Mutation_p.R28S|CBX5_uc001sfj.4_Missense_Mutation_p.R28S	NM_012117	NP_036249	P45973	CBX5_HUMAN	Homo sapiens chromobox homolog 5 (CBX5), transcript variant 3, mRNA.	28	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	p.R28M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TAACCACGCGCCTGTCTAGCA	0.488													41	63					0	0	1	0	0	A	54651351	C	A	54651351	3	1	398	1	0	0	0	0	1	0	0	0	2721	738	26	4	507	4	CBX5	12	54651351	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		54651351	79200544	28	6691											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057031	72057031	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcggacagtgagctcgaAggcatccgtacagaaggcgg	14	10	0	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:72057031A>C	uc001swo.2	-	0	719	c.360T>G	c.(358-360)ccT>ccG	p.P120P	ZFC3H1_uc010sts.2_Silent_p.P120P|ZFC3H1_uc001swp.3_Silent_p.P120P|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	120	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTGAGCTCGAAGGCATCCGTA	0.657													57	95					0	0	1	0	0	C	72057031	A	C	72057031	2	2	398	1	0	0	0	0	0	0	0	1	17630	59	3	5		5	ZFC3H1	12	72057031	Silent	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	17405680	72057031	61794864	29	6692											
MTERFD3	80298	broad.mit.edu	37	chr12	107372093	107372093	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaagattctggaaactgctCtattaacttgattaactctt	6	7	3	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:107372093C>T	uc001tme.1	-	1	2219	c.400G>A	c.(400-402)Gag>Aag	p.E134K	MTERFD3_uc001tmf.1_Missense_Mutation_p.E134K|MTERFD3_uc001tmg.1_Missense_Mutation_p.E134K|MTERFD3_uc021rdh.1_Missense_Mutation_p.E134K|MTERFD3_uc001tmh.1_Missense_Mutation_p.E134K	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGAAACTGCTCTATTAACTTG	0.403													45	85					0	0	1	0	0	T	107372093	C	T	107372093	3	4	398	1	0	0	0	0	1	0	0	0	9921	922	32	2	761	2	MTERFD3	12	107372093	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	35315062	107372093	26479802	30	6693											
EPSTI1	94240	broad.mit.edu	37	chr13	43462494	43462494	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagaagccagtcactcctGactgcacggtcaagtgtgtg	13	10	2	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr13:43462494G>A	uc001uyw.1	-	12	1201	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	EPSTI1_uc001uyx.1_3'UTR	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	0								p.V375V(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AGTCACTCCTGACTGCACGGT	0.418													30	54					0	0	1	0	0	A	43462494	G	A	43462494	2	1	398	1	0	0	0	0	0	0	0	1	5198	1277	45	2		2	EPSTI1	13	43462494	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		43462494	71707384	31	6694											
HMOX2	3163	broad.mit.edu	37	chr16	4557905	4557905	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtgccccaaggctgcccaGaagtacgtggagcggatcca	13	13	0	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:4557905G>A	uc010bts.3	+	3	567	c.396G>A	c.(394-396)caG>caA	p.Q132Q	HMOX2_uc002cwr.4_Silent_p.Q132Q|HMOX2_uc002cwq.4_Silent_p.Q132Q|HMOX2_uc010btt.3_Silent_p.Q132Q|HMOX2_uc002cwt.3_Silent_p.Q132Q	NM_001127206	NP_002125	P30519	HMOX2_HUMAN	Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 4, mRNA.	132					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AGGCTGCCCAGAAGTACGTGG	0.607													6	69					0	0	1	0	0	A	4557905	G	A	4557905	2	1	398	1	0	0	0	0	0	0	0	1	7244	933	33	2		2	HMOX2	16	4557905	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		4557905	85796848	32	6695											
C16orf62	57020	broad.mit.edu	37	chr16	19711771	19711771	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catctgacggagctggccctCagactccctctgcaaacaag	9	15	3	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:19711771C>T	uc002dgn.2	+	30	3180	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L	C16orf62_uc002dgo.2_Silent_p.L951L|C16orf62_uc002dgp.2_Silent_p.L704L	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	955						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGCTGGCCCTCAGACTCCCTC	0.522													20	35					0	0	1	0	0	T	19711771	C	T	19711771	2	4	398	1	0	0	0	0	0	0	0	1	1825	813	29	2		2	C16orf62	16	19711771	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	15153866	19711771	70642982	33	6696											
NUP93	9688	broad.mit.edu	37	chr16	56782199	56782199	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgagctccttcagcaagctGaacagcttgctgctgagact	11	11	1	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:56782199G>A	uc002eka.3	+	1	161	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	14					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.E14K(6)|p.A13A(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCAGCAAGCTGAACAGCTTGC	0.517													6	74					0	0	1	0	0	A	56782199	G	A	56782199	3	1	398	1	0	0	0	0	1	0	0	0	10772	1291	45	2	42	2	NUP93	16	56782199	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	37070428	56782199	33572554	34	6697											
ELMO3	79767	broad.mit.edu	37	chr16	67233140	67233140	+	Frame_Shift_Del	DEL	C	C	-													gtctcggaaagggaggacctCctcgtccccaggggccccag							TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:67233140delC	uc002esa.3	+	0	113	c.70delC	c.(70-72)cctfs	p.P24fs	ELMO3_uc002esb.3_Frame_Shift_Del_p.P24fs|ELMO3_uc002esc.3_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	0					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGGAGGACCTCCTCGTCCCCA	0.701													14	17	---	---	---	---						-	67233140	C	-	67233140	7	5	398	1	0	1	0	1	0	0	0	0	5067	855	30	0	72	0	ELMO3	16	67233140	Frame_Shift_Del	DEL	C	TCGA-L6-A4EU-01A-11D-A257-08	10450941	67233140	23121613	35	6698											
ZFHX3	463	broad.mit.edu	37	chr16	72821420	72821420	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggcagactgcgaggtAgatgcggtgctaggatcggg	19	7	0	3			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:72821420A>C	uc002fck.3	-	9	11428	c.10755T>G	c.(10753-10755)tcT>tcG	p.S3585S	AK021563_uc002fcj.1_Intron|ZFHX3_uc002fcl.3_Silent_p.S2671S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3585					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTGCGAGGTAGATGCGGTGC	0.617													48	80					0	0	1	0	0	C	72821420	A	C	72821420	2	2	398	1	0	0	0	0	0	0	0	1	17631	407	15	5		5	ZFHX3	16	72821420	Silent	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	5588280	72821420	17533333	36	6699											
CLEC3A	10143	broad.mit.edu	37	chr16	78064504	78064504	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctccaagactatggtaaaagGagcctgccaggtgtcaatga	11	9	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:78064504G>C	uc002ffh.4	+	2	441	c.360G>C	c.(358-360)agG>agC	p.R120S	CLEC3A_uc021tlr.1_Missense_Mutation_p.R68S	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	120	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ATGGTAAAAGGAGCCTGCCAG	0.488													36	167					0	0	1	0	0	C	78064504	G	C	78064504	3	2	398	1	0	0	0	0	1	0	0	0	3510	1165	41	4	370	4	CLEC3A	16	78064504	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	5243084	78064504	12290249	37	6700											
DHX40	79665	broad.mit.edu	37	chr17	57642992	57642992	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctttcccctcccatctcctCagatcggtggacgtgctcgc	8	17	3	1			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr17:57642992C>T	uc002ixo.1	+	1	1	c.-355_splice	c.e1-1		DHX40_uc002ixn.2_5'UTR|DHX40_uc010woe.2_5'UTR			Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.								ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCCATCTCCTCAGATCGGTGG	0.662													12	11					0	0	1	0	0	T	57642992	C	T	57642992	5	4	398	1	0	0	0	0	0	0	1	0	4512	841	29	2		2	DHX40	17	57642992	Splice_Site	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		57642992	23552218	38	6701											
TMEM38A	79041	broad.mit.edu	37	chr19	16799102	16799102	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcggtggtgggccaggagctCagcattcggccatgcccgcc	16	14	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:16799102C>G	uc002nes.3	+	5	911	c.820C>G	c.(820-822)Cag>Gag	p.Q274E		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	274						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCCAGGAGCTCAGCATTCGGC	0.647													8	170					0	0	1	0	0	G	16799102	C	G	16799102	3	3	398	1	0	0	0	0	1	0	0	0	16156	827	29	4	842	4	TMEM38A	19	16799102	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		16799102	42329881	39	6702											
SERTAD3	29946	broad.mit.edu	37	chr19	40947970	40947970	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaaatcagagtgtttcctCttcaagcctcccaccatgat	5	14	3	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:40947970C>T	uc002onu.4	-	1	296	c.18G>A	c.(16-18)aaG>aaA	p.K6K	SERTAD3_uc002onv.4_Silent_p.K6K|SERTAD3_uc021uut.1_Silent_p.K6K	NM_013368	NP_976219	Q9UJW9	SRTD3_HUMAN	Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA.	6					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTGTTTCCTCTTCAAGCCTC	0.562													15	19					0	0	1	0	0	T	40947970	C	T	40947970	2	4	398	1	0	0	0	0	0	0	0	1	14122	912	32	2		2	SERTAD3	19	40947970	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	24148868	40947970	18181013	40	6703											
RALGAPB	57148	broad.mit.edu	37	chr20	37153437	37153437	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctagattttacatgcttttaAttcaaggtttgcagataaat	6	5	1	2			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr20:37153437A>T	uc010zvz.1	+	9	1691	c.1434A>T	c.(1432-1434)taA>taT	p.*478Y	RALGAPB_uc002xiw.3_Missense_Mutation_p.I546F|RALGAPB_uc002xix.3_Missense_Mutation_p.I546F|RALGAPB_uc002xiy.1_Missense_Mutation_p.I546F|RALGAPB_uc002xiz.3_Missense_Mutation_p.I324F|RALGAPB_uc002xja.1_Missense_Mutation_p.I273F			Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	0					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATGCTTTTAATTCAAGGTTT	0.328													42	53					0	0	1	0	0	T	37153437	A	T	37153437	4	4	398	1	0	0	0	0	0	0	0	0	13015	101	4	5	1674	5	RALGAPB	20	37153437	Nonstop_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08		37153437	25872083	41	6704											
LARGE	9215	broad.mit.edu	37	chr22	34046477	34046477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtcttggagtggttgcctCggcgatgggatggggctcgg	20	7	1	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:34046477C>T	uc003and.4	-	3	863	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LARGE_uc003ane.4_Missense_Mutation_p.R95Q|LARGE_uc010gwp.3_Missense_Mutation_p.R95Q|LARGE_uc011ame.2_Missense_Mutation_p.R27Q|LARGE_uc011amf.2_Missense_Mutation_p.R95Q	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	95					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGGTTGCCTCGGCGATGGGA	0.682													8	120					0	0	1	0	0	T	34046477	C	T	34046477	3	4	398	1	0	0	0	0	1	0	0	0	8627	884	31	1	2038	1	LARGE	22	34046477	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		34046477	17258089	42	6705											
COL4A5	1287	broad.mit.edu	37	chrX	107834385	107834385	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttccattcctggaccTcctggacttgacggacagcc	10	13	0	1	rs104886109		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:107834385T>G	uc022ccg.1	+	19	1465	c.1263T>G	c.(1261-1263)ccT>ccG	p.P421P	COL4A5_uc004enz.1_Silent_p.P421P|COL4A5_uc004eob.1_Silent_p.P29P	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	421	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTCCTGGACCTCCTGGACTTG	0.557									Alport syndrome with Diffuse Leiomyomatosis				26	65					0	0	1	0	0	G	107834385	T	G	107834385	2	3	398	1	0	0	0	0	0	0	0	1	3694	1538	54	5		5	COL4A5	23	107834385	Silent	SNP	T	TCGA-L6-A4EU-01A-11D-A257-08		107834385	47436175	43	6706											
UBE2A	7319	broad.mit.edu	37	chrX	118708873	118708873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcccgaaggttgcaggaGgatcctccagccggagtcag	13	12	2	0			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:118708873G>A	uc004erl.3	+	1	230	c.54G>A	c.(52-54)gaG>gaA	p.E18E	UBE2A_uc004erm.3_Silent_p.E18E	NM_003336	NP_861442	P49459	UBE2A_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 1, mRNA.	18					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein autoubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GGTTGCAGGAGGATCCTCCAG	0.692								Rad6 pathway					29	46					0	0	1	0	0	A	118708873	G	A	118708873	2	1	398	1	0	0	0	0	0	0	0	1	16841	991	35	2		2	UBE2A	23	118708873	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	10874488	118708873	36561687	44	6707											
SRGAP3	9901	broad.mit.edu	37	chr3	9101882	9101882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagccctggtgtgggcCctgctcagtcccagactccc	12	17	1	1			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr3:9101882C>T	uc003brk.3	-	5	1510	c.834G>A	c.(832-834)agG>agA	p.R278R	SRGAP3_uc003brf.1_Intron|SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_Intron|SRGAP3_uc003brj.1_Intron			O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 2, mRNA.	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGGTGTGGGCCCTGCTCAGTC	0.547			T	RAF1	pilocytic astrocytoma								24	32					0	0	1	0	0	T	9101882	C	T	9101882	2	4	399	1	0	0	0	0	0	0	0	1	15146	638	22	2		2	SRGAP3	3	9101882	Silent	SNP	C	TCGA-MK-A4N6-01A-11D-A257-08		9101882	188920548	1	6708											
SEL1L3	23231	broad.mit.edu	37	chr4	25769225	25769225	+	Frame_Shift_Del	DEL	C	C	-													aacacccaagtatctcctggCcaggtcctaaggggtaaagg							TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr4:25769225delC	uc003gru.4	-	18	2919	c.2767delG	c.(2767-2769)gccfs	p.A923fs	SEL1L3_uc003grv.3_Frame_Shift_Del_p.A330fs	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	923						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TATCTCCTGGCCAGGTCCTAA	0.388													2	4	---	---	---	---						-	25769225	C	-	25769225	7	5	399	1	0	1	0	1	0	0	0	0	14012	739	26	0	655	0	SEL1L3	4	25769225	Frame_Shift_Del	DEL	C	TCGA-MK-A4N6-01A-11D-A257-08		25769225	165385051	2	6709											
SLCO6A1	133482	broad.mit.edu	37	chr5	101794169	101794169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatgaagctgtttacGtttcctagcttttatccgtg	7	7	0	1			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr5:101794169G>A	uc003knn.3	-	5	1220	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.R350C|SLCO6A1_uc003knq.3_Missense_Mutation_p.R288C	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	350						integral to membrane|plasma membrane	transporter activity	p.R350H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTGTTTACGTTTCCTAGCT	0.294													19	25					0	0	1	0	0	A	101794169	G	A	101794169	3	1	399	1	0	0	0	0	1	0	0	0	14732	1145	40	1	1143	1	SLCO6A1	5	101794169	Missense_Mutation	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08		101794169	79121091	3	6710											
KIF4B	285643	broad.mit.edu	37	chr5	154395925	154395925	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaggagtgctcagattgctGacctacagcagaagctgctg	12	10	2	3			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr5:154395925G>A	uc010jih.1	+	0	2666	c.2506G>A	c.(2506-2508)Gac>Aac	p.D836N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	836	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAGATTGCTGACCTACAGCA	0.443													13	29					0	0	1	0	0	A	154395925	G	A	154395925	3	1	399	1	0	0	0	0	1	0	0	0	8304	1290	45	2	2508	2	KIF4B	5	154395925	Missense_Mutation	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08	52601756	154395925	26519335	4	6711											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	44					0	0	1	0	0	T	140453136	A	T	140453136	3	4	399	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		140453136	18685527	5	6712											
BMP1	649	broad.mit.edu	37	chr8	22054270	22054270	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggagtacccccccaacAagaactgcatctggcagctg	9	15	1	1			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr8:22054270A>T	uc003xbg.3	+	13	2109	c.1843A>T	c.(1843-1845)Aag>Tag	p.K615*	BMP1_uc003xbf.3_Nonsense_Mutation_p.K364*|BMP1_uc003xbb.3_Nonsense_Mutation_p.K615*|BMP1_uc003xbc.3_Nonsense_Mutation_p.K364*|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Nonsense_Mutation_p.K364*|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	615	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCCCCCAACAAGAACTGCAT	0.607													13	23					0	0	1	0	0	T	22054270	A	T	22054270	4	4	399	1	0	0	0	0	0	1	0	0	1456	131	5	5	1897	5	BMP1	8	22054270	Nonsense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		22054270	124309752	6	6713											
CREBZF	58487	broad.mit.edu	37	chr11	85375047	85375047	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctctgaagagcgaggtggtCagccgcagtcccacgccgct	13	14	2	2			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr11:85375047C>T	uc001pas.2	-	0	1136	c.873G>A	c.(871-873)ctG>ctA	p.L291L	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	291					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCGAGGTGGTCAGCCGCAGTC	0.652											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	112					0	0	1	0	0	T	85375047	C	T	85375047	2	4	399	1	0	0	0	0	0	0	0	1	3863	813	29	2		2	CREBZF	11	85375047	Silent	SNP	C	TCGA-MK-A4N6-01A-11D-A257-08		85375047	49631469	7	6714											
MLL	4297	broad.mit.edu	37	chr11	118374951	118374951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccacaaaaatgagccaAagatggataactgccattct	8	9	1	2			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr11:118374951A>G	uc001ptb.3	+	26	8367	c.8344A>G	c.(8344-8346)Aag>Gag	p.K2782E	MLL_uc001pta.3_Missense_Mutation_p.K2779E	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.	2779					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAATGAGCCAAAGATGGATAA	0.433			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								23	78					0	0	1	0	0	G	118374951	A	G	118374951	3	3	399	1	0	0	0	0	1	0	0	0	9620	15	1	3	8441	3	MLL	11	118374951	Missense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08	32999904	118374951	16631565	8	6715											
KLHL26	55295	broad.mit.edu	37	chr19	18779952	18779952	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcgtacaggtgtacaAcacggacaccgacgagtggg	15	10	0	0			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr19:18779952A>T	uc002njz.1	+	2	1772	c.1745A>T	c.(1744-1746)aAc>aTc	p.N582I		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	582										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGGTGTACAACACGGACACC	0.657													17	36					0	0	1	0	0	T	18779952	A	T	18779952	3	4	399	1	0	0	0	0	1	0	0	0	8381	43	2	5	1755	5	KLHL26	19	18779952	Missense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		18779952	40349031	9	6716											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45210582	45210582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttgaaggccctctacgtGgtgcaccccaccagcttcat	8	15	2	1			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr22:45210582G>A	uc003bfd.3	+	9	1237	c.960G>A	c.(958-960)gtG>gtA	p.V320V	PRR5-ARHGAP8_uc011aqi.2_Silent_p.V232V|PRR5-ARHGAP8_uc011aqj.2_Silent_p.V146V|PRR5-ARHGAP8_uc003bfi.3_Silent_p.V110V|PRR5-ARHGAP8_uc010gzv.3_Silent_p.V110V|PRR5-ARHGAP8_uc003bfj.3_Silent_p.V141V|PRR5-ARHGAP8_uc003bfk.3_Silent_p.V110V|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CCCTCTACGTGGTGCACCCCA	0.577													7	68					0	0	1	0	0	A	45210582	G	A	45210582	2	1	399	1	0	0	0	0	0	0	0	1	12601	1335	47	2		2	PRR5-ARHGAP8	22	45210582	Silent	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08		45210582	6093984	10	6717											
GLOD5	392465	broad.mit.edu	37	chrX	48631755	48631755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccctattgaggaggggccAgtccccagaacaggggcaaa	14	11	0	2			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chrX:48631755A>G	uc011mmh.2	+	3	428	c.387A>G	c.(385-387)ccA>ccG	p.P129P		NM_001080489	NP_001073958			Homo sapiens glyoxalase domain containing 5 (GLOD5), mRNA.											endometrium(1)|lung(2)	3						AGGAGGGGCCAGTCCCCAGAA	0.473													16	11					0	0	1	0	0	G	48631755	A	G	48631755	2	3	399	1	0	0	0	0	0	0	0	1	6451	175	7	3		3	GLOD5	23	48631755	Silent	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		48631755	106638805	11	6718											
ACOT7	11332	broad.mit.edu	37	chr1	6341211	6341211	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggctcagcgacacgTaggtgaagaaggcactggcg	14	11	1	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr1:6341211T>A	uc001ams.3	-	7	1152	c.995A>T	c.(994-996)tAc>tTc	p.Y332F	ACOT7_uc001amt.3_Missense_Mutation_p.Y322F|ACOT7_uc001amu.3_Non-coding_Transcript|ACOT7_uc001amq.3_Missense_Mutation_p.Y281F|ACOT7_uc001amr.3_Missense_Mutation_p.Y302F	NM_181864	NP_863654	O00154	BACH_HUMAN	Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHb, mRNA.	332						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CAGCGACACGTAGGTGAAGAA	0.642											OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	34					0	0	1	0	0	A	6341211	T	A	6341211	3	1	400	1	0	0	0	0	1	0	0	0	155	1638	57	5	155	5	ACOT7	1	6341211	Missense_Mutation	SNP	T	TCGA-MK-A4N7-01A-11D-A257-08		6341211	242909410	1	6719											
SIKE1	80143	broad.mit.edu	37	chr1	115321764	115321764	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttattcaaagtttcttactGcagagtgagactggtgagct	10	6	2	3			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr1:115321764G>A	uc001efp.4	-	3	500	c.420_splice	c.e3+1	p.A140_splice	SIKE1_uc001efo.4_Splice_Site_p.A136_splice	NM_001102396	NP_001095866	Q9BRV8	SIKE1_HUMAN	Homo sapiens suppressor of IKBKE 1 (SIKE1), transcript variant 1, mRNA.	136						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GTTTCTTACTGCAGAGTGAGA	0.378													18	32					0	0	1	0	0	A	115321764	G	A	115321764	5	1	400	1	0	0	0	0	0	0	1	0	14320	1333	46	2	228	2	SIKE1	1	115321764	Splice_Site	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	108980553	115321764	133928857	2	6720											
MYT1L	23040	broad.mit.edu	37	chr2	1915828	1915828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgctgttgacatgcccgCgccccgtgcagcccggagtg	14	14	0	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr2:1915828C>T	uc002qxe.3	-	11	2500	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	MYT1L_uc002qxd.3_Missense_Mutation_p.R556H|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	558					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACATGCCCGCGCCCCGTGCA	0.597													10	9					0	0	1	0	0	T	1915828	C	T	1915828	3	4	400	1	0	0	0	0	1	0	0	0	10107	768	27	1	1943	1	MYT1L	2	1915828	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		1915828	241283545	3	6721											
MAP2	4133	broad.mit.edu	37	chr2	210559316	210559316	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatggcacctgaccttcctGaaatgctagatctggcaggc	10	12	2	3			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr2:210559316G>T	uc002vde.1	+	6	2670	c.2422G>T	c.(2422-2424)Gaa>Taa	p.E808*	MAP2_uc002vdc.1_Nonsense_Mutation_p.E808*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.E804*	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	808					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGACCTTCCTGAAATGCTAGA	0.463													11	100					0	0	1	0	0	T	210559316	G	T	210559316	4	4	400	1	0	0	0	0	0	1	0	0	9235	1291	45	4	2436	4	MAP2	2	210559316	Nonsense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	208643488	210559316	32640057	4	6722											
FBXL5	26234	broad.mit.edu	37	chr4	15629584	15629584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatatggtagaacgttaTgaattaagccatggagtaaa	9	5	0	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr4:15629584T>C	uc003goc.2	-	6	1090	c.965A>G	c.(964-966)cAt>cGt	p.H322R	FBXL5_uc010idw.2_Missense_Mutation_p.H235R|FBXL5_uc003gob.2_Missense_Mutation_p.H184R|FBXL5_uc010idx.2_Missense_Mutation_p.H321R|FBXL5_uc003god.2_Missense_Mutation_p.H305R|FBXL5_uc010idy.2_Missense_Mutation_p.H322R	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	322					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis	SCF ubiquitin ligase complex|perinuclear region of cytoplasm	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TAGAACGTTATGAATTAAGCC	0.348													9	10					0	0	1	0	0	C	15629584	T	C	15629584	3	2	400	1	0	0	0	0	1	0	0	0	5722	1464	51	3	1130	3	FBXL5	4	15629584	Missense_Mutation	SNP	T	TCGA-MK-A4N7-01A-11D-A257-08		15629584	175524692	5	6723											
AKAP12	9590	broad.mit.edu	37	chr6	151671522	151671522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcgtggaagagccaaagCcggaagaaccaaagcgcaag	15	9	0	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr6:151671522C>A	uc011eep.2	+	3	2236	c.1996C>A	c.(1996-1998)Ccg>Acg	p.P666T	AKAP12_uc003qoe.3_Missense_Mutation_p.P666T|AKAP12_uc003qof.3_Missense_Mutation_p.P568T|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.P561T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	666					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGCCAAAGCCGGAAGAACC	0.493													17	40					0	0	1	0	0	A	151671522	C	A	151671522	3	1	400	1	0	0	0	0	1	0	0	0	448	739	26	4	2035	4	AKAP12	6	151671522	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		151671522	19443545	6	6724											
RELN	5649	broad.mit.edu	37	chr7	103202062	103202062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatacacttcaggccaaaGgtcaggatgtaaattcccat	7	11	2	0			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr7:103202062G>T	uc022ajr.1	-	35	5606	c.5446C>A	c.(5446-5448)Ctt>Att	p.L1816I	RELN_uc022ajq.1_Missense_Mutation_p.L1816I|RELN_uc010liz.3_Missense_Mutation_p.L1816I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1816					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCAGGCCAAAGGTCAGGATGT	0.443													12	32					0	0	1	0	0	T	103202062	G	T	103202062	3	4	400	1	0	0	0	0	1	0	0	0	13220	1000	35	4	5056	4	RELN	7	103202062	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		103202062	55936601	7	6725											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				12	20					0	0	1	0	0	T	140453136	A	T	140453136	3	4	400	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-MK-A4N7-01A-11D-A257-08	37251074	140453136	18685527	8	6726											
LOXL2	4017	broad.mit.edu	37	chr8	23167321	23167321	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctgcgcggctgaggccgaGaggcagttctcctccatggc	15	13	2	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr8:23167321G>A	uc003xdh.1	-	9	2079	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L	LOXL2_uc010lty.1_Silent_p.L119L	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	580	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTGAGGCCGAGAGGCAGTTCT	0.652													4	41					0	0	1	0	0	A	23167321	G	A	23167321	2	1	400	1	0	0	0	0	0	0	0	1	8900	929	33	2		2	LOXL2	8	23167321	Silent	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		23167321	123196701	9	6727											
PPAPDC2	403313	broad.mit.edu	37	chr9	4662753	4662753	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgggagagagctcgtcGtggggcagcgtgcgacccct	18	12	0	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr9:4662753G>C	uc003zin.3	+	0	456	c.378G>C	c.(376-378)tcG>tcC	p.S126S	SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA.	126						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		AGAGCTCGTCGTGGGGCAGCG	0.657											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	37					0	0	1	0	0	C	4662753	G	C	4662753	2	2	400	1	0	0	0	0	0	0	0	1	12295	1132	40	4		4	PPAPDC2	9	4662753	Silent	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		4662753	136550678	10	6728											
SVEP1	79987	broad.mit.edu	37	chr9	113234582	113234582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagtaatccagcctattaGctgcaccccagccacctggt	8	14	0	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr9:113234582G>A	uc010mtz.3	-	14	2958	c.2621C>T	c.(2620-2622)gCt>gTt	p.A874V	SVEP1_uc010mua.1_Missense_Mutation_p.A874V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	874					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGCCTATTAGCTGCACCCCA	0.493													7	59					0	0	1	0	0	A	113234582	G	A	113234582	3	1	400	1	0	0	0	0	1	0	0	0	15417	971	34	2	8230	2	SVEP1	9	113234582	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	108571829	113234582	27978849	11	6729											
FGFR2	2263	broad.mit.edu	37	chr10	123279544	123279544	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcccgtatttactgccgttCttttccacgtgcttgatcca	8	13	1	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr10:123279544C>G	uc021pzy.1	-	6	1535	c.888G>C	c.(886-888)aaG>aaC	p.K296N	FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Missense_Mutation_p.K181N|FGFR2_uc021pzx.1_Missense_Mutation_p.K207N|FGFR2_uc021pzz.1_Missense_Mutation_p.K296N|FGFR2_uc010qtl.2_Missense_Mutation_p.K296N|FGFR2_uc010qtm.2_Missense_Mutation_p.K181N|FGFR2_uc021qaa.1_Missense_Mutation_p.K296N|FGFR2_uc021qab.1_Missense_Mutation_p.K207N|FGFR2_uc021qac.1_Missense_Mutation_p.K226N|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.K315N|FGFR2_uc010qto.2_Missense_Mutation_p.K200N|FGFR2_uc001lfo.1_Missense_Mutation_p.K315N|FGFR2_uc010qtp.2_Missense_Mutation_p.K315N|FGFR2_uc001lfg.4_5'Flank	NM_022970	NP_075259	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 2, mRNA.	296	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TACTGCCGTTCTTTTCCACGT	0.537		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				8	72					0	0	1	0	0	G	123279544	C	G	123279544	3	3	400	1	0	0	0	0	1	0	0	0	5866	912	32	4	1881	4	FGFR2	10	123279544	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		123279544	12255203	12	6730											
VPS11	55823	broad.mit.edu	37	chr11	118951865	118951865	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gccttggagttgccctcagtCcacttcctgtgtggccactc	10	15	1	0			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr11:118951865C>G	uc010ryx.2	+	15	2538	c.2496C>G	c.(2494-2496)gtC>gtG	p.V832V	VPS11_uc010ryy.2_Silent_p.V680V	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	834					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGCCCTCAGTCCACTTCCTGT	0.507													12	174					0	0	1	0	0	G	118951865	C	G	118951865	2	3	400	1	0	0	0	0	0	0	0	1	17185	842	30	4		4	VPS11	11	118951865	Silent	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		118951865	16054651	13	6731											
DNAJC7	7266	broad.mit.edu	37	chr17	40135606	40135606	+	Frame_Shift_Del	DEL	T	T	-													gttttctctgtctggtatacTttttcatagtctcgtactgc							TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr17:40135606delT	uc002hyo.3	-	9	1340	c.1059delA	c.(1057-1059)aaafs	p.K353fs	DNAJC7_uc010wgb.2_Frame_Shift_Del_p.K297fs|DNAJC7_uc002hyp.3_Frame_Shift_Del_p.K297fs|DNAJC7_uc010wgc.2_Frame_Shift_Del_p.K211fs	NM_003315	NP_001138238	Q99615	DNJC7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA.	353					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TCTGGTATACTTTTTCATAGT	0.368													2	4	---	---	---	---						-	40135606	T	-	40135606	7	5	400	1	0	1	0	1	0	0	0	0	4654	1606	56	0	445	0	DNAJC7	17	40135606	Frame_Shift_Del	DEL	T	TCGA-MK-A4N7-01A-11D-A257-08		40135606	41059604	14	6732											
ZFR2	23217	broad.mit.edu	37	chr19	3821446	3821446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccggctgctgggctccGtggcaatgggaaggtccggg	19	11	0	0			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr19:3821446G>A	uc002lyw.2	-	9	1535	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	508						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCTGGGCTCCGTGGCAATGGG	0.642													18	25					0	0	1	0	0	A	3821446	G	A	3821446	3	1	400	1	0	0	0	0	1	0	0	0	17657	1145	40	1	1336	1	ZFR2	19	3821446	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		3821446	55307537	15	6733											
MCM8	84515	broad.mit.edu	37	chr20	5965510	5965510	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcatcatgatcacttactctCtgaacatgtgattgcaataa	6	9	3	3			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr20:5965510C>G	uc002wmk.3	+	14	2314	c.1937C>G	c.(1936-1938)tCt>tGt	p.S646C	MCM8_uc002wmi.3_Missense_Mutation_p.S606C|MCM8_uc002wmj.3_Missense_Mutation_p.S590C|MCM8_uc002wml.3_Missense_Mutation_p.S606C|MCM8_uc010gbp.3_Missense_Mutation_p.S559C|MCM8_uc002wmm.3_Missense_Mutation_p.S144C	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	606					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.P646L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CACTTACTCTCTGAACATGTG	0.393													4	29					0	0	1	0	0	G	5965510	C	G	5965510	3	3	400	1	0	0	0	0	1	0	0	0	9393	913	32	4	1871	4	MCM8	20	5965510	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		5965510	57060010	16	6734											
ZNRF3	84133	broad.mit.edu	37	chr22	29446145	29446145	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccctcgggggatcaggtgtCcacctgcagcctggagatga	14	12	1	2			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr22:29446145C>G	uc003aeg.3	+	7	1976	c.1976C>G	c.(1975-1977)tCc>tGc	p.S659C	ZNRF3_uc021wnq.1_Missense_Mutation_p.S559C	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	659						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GATCAGGTGTCCACCTGCAGC	0.682													9	91					0	0	1	0	0	G	29446145	C	G	29446145	3	3	400	1	0	0	0	0	1	0	0	0	18210	855	30	4	1702	4	ZNRF3	22	29446145	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		29446145	21858421	17	6735											
HUWE1	10075	broad.mit.edu	37	chrX	53575049	53575049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactggcactgacttcacGgagttcttgcctttccggct	9	14	3	1			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chrX:53575049G>A	uc004dsp.3	-	67	10623	c.10221C>T	c.(10219-10221)tcC>tcT	p.S3407S	HUWE1_uc004dsn.3_Silent_p.S2215S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3407					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.A3406S(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGACTTCACGGAGTTCTTGC	0.547													16	37					0	0	1	0	0	A	53575049	G	A	53575049	2	1	400	1	0	0	0	0	0	0	0	1	7461	1103	39	1		1	HUWE1	23	53575049	Silent	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		53575049	101695511	18	6736											
GABRQ	55879	broad.mit.edu	37	chrX	151806720	151806720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcaggacctggctcgcgGagggcaactaccccagtccc	11	16	2	0			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chrX:151806720G>A	uc004ffp.1	+	0	84	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	22						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity	p.A21V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCTCGCGGAGGGCAACTA	0.647													7	85					0	0	1	0	0	A	151806720	G	A	151806720	3	1	400	1	0	0	0	0	1	0	0	0	6175	1175	41	2	66	2	GABRQ	23	151806720	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	98231671	151806720	3463840	19	6737											
TGFBI	7045	broad.mit.edu	37	chr5	135389735	135389735	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctctggaagtgagcggttGaccctcctggctcccctgaa	11	14	1	3			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr5:135389735G>A	uc003lbf.4	+	8	1391	c.1230G>A	c.(1228-1230)ttG>ttA	p.L410L	TGFBI_uc003lbg.4_Silent_p.L143L|TGFBI_uc003lbh.4_Silent_p.L236L|TGFBI_uc011cyb.2_Silent_p.L236L	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	410	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGAGCGGTTGACCCTCCTGG	0.532													15	90					0	0	1	0	0	A	135389735	G	A	135389735	2	1	401	1	0	0	0	0	0	0	0	1	15817	1281	45	2		2	TGFBI	5	135389735	Silent	SNP	G	TCGA-MK-A4N9-01A-11D-A257-08		135389735	45525525	1	6738											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	17					0	0	1	0	0	T	140453136	A	T	140453136	3	4	401	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-MK-A4N9-01A-11D-A257-08		140453136	18685527	2	6739											
CSMD1	64478	broad.mit.edu	37	chr8	4494931	4494931	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatatcaaaatcttcttcaaGagcaaaggtatggaaggaca	8	6	4	1			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr8:4494931G>C	uc022aqr.1	-	1	625	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	79	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTCTTCAAGAGCAAAGGTA	0.423													4	84					0	0	1	0	0	C	4494931	G	C	4494931	3	2	401	1	0	0	0	0	1	0	0	0	3944	942	33	4	10548	4	CSMD1	8	4494931	Missense_Mutation	SNP	G	TCGA-MK-A4N9-01A-11D-A257-08		4494931	141869091	3	6740											
PEX5	5830	broad.mit.edu	37	chr12	7343014	7343014	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccgaatgcgggggtgCcaacccgctcatgaagctcg	16	12	1	1			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr12:7343014C>G	uc010sgd.2	+	1	193	c.104C>G	c.(103-105)gCc>gGc	p.A35G	PEX5_uc009zfu.2_Missense_Mutation_p.A14G|PEX5_uc001qsw.3_Missense_Mutation_p.A14G|PEX5_uc010sgc.2_Missense_Mutation_p.A14G|PEX5_uc001qsu.3_Missense_Mutation_p.A14G|PEX5_uc001qsv.3_Missense_Mutation_p.A14G	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	14					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TGCGGGGGTGCCAACCCGCTC	0.667													5	141					0	0	1	0	0	G	7343014	C	G	7343014	3	3	401	1	0	0	0	0	1	0	0	0	11748	739	26	4	43	4	PEX5	12	7343014	Missense_Mutation	SNP	C	TCGA-MK-A4N9-01A-11D-A257-08		7343014	126508881	4	6741											
NTN4	59277	broad.mit.edu	37	chr12	96180969	96180969	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatcttttctctgtgcacAtcctccgcagactgccacca	7	15	2	1			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr12:96180969A>C	uc001tei.3	-	1	782	c.333T>G	c.(331-333)gaT>gaG	p.D111E	NTN4_uc009ztf.3_Missense_Mutation_p.D111E|NTN4_uc009ztg.3_Missense_Mutation_p.D74E	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	111	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTCTGTGCACATCCTCCGCAG	0.542													4	70					0	0	1	0	0	C	96180969	A	C	96180969	3	2	401	1	0	0	0	0	1	0	0	0	10702	214	8	5	1589	5	NTN4	12	96180969	Missense_Mutation	SNP	A	TCGA-MK-A4N9-01A-11D-A257-08	88837955	96180969	37670926	5	6742											
RSPH6A	81492	broad.mit.edu	37	chr19	46308064	46308064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcctcctctgcctcctCctcgccctcccggaattcca	4	23	1	0			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr19:46308064C>T	uc002pdm.3	-	2	1270	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E103K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	367	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tctgcctcctcctcgccctcc	0.652													12	56					0	0	1	0	0	T	46308064	C	T	46308064	3	4	401	1	0	0	0	0	1	0	0	0	13707	864	30	2	1070	2	RSPH6A	19	46308064	Missense_Mutation	SNP	C	TCGA-MK-A4N9-01A-11D-A257-08		46308064	12820919	6	6743											
